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Download Human Gene
Unique ID
Gene Symbol
Gene Name
Chromosome Loc
Genetic Category
Gene Ranking
Biallelic
# of Variants
Associated Disorders
# of Reports
Primary Reference
Display
GEN268
ABAT
4-aminobutyrate aminotransferase
16p13.2
Genetic Association
2
7
7
Barnby G , et al. 2005
Edit
GEN749
ABCA10
ATP-binding cassette, sub-family A (ABC1), member 10
17q24.3
Rare single gene variant
2
Yes
8
3
Lim ET , et al. 2013
Edit
GEN988
ABCA13
ATP binding cassette subfamily A member 13
7p12.3
Rare single gene variant
3
30
11
Neale BM , et al. 2012
Edit
GEN590
ABCA7
ATP-binding cassette, sub-family A (ABC1), member 7
19p13.3
Rare single gene variant
3
20
6
He Z , et al. 2013
Edit
GEN1379
ABCE1
ATP binding cassette subfamily E member 1
4q31.21
Rare single gene variant
2
3
3
Satterstrom FK et al. 2020
Edit
GEN1316
ABL2
ABL proto-oncogene 2, non-receptor tyrosine kinase
1q25.2
Functional
3
10
10
Iossifov I et al. 2014
Edit
GEN822
ACE
angiotensin I converting enzyme
17q23.3
Rare single gene variant
2
9
5
Firouzabadi N et al. 2016
Edit
GEN771
ACHE
Acetylcholinesterase (Yt blood group)
7q22.1
Rare single gene variant
3
6
7
Sanders SJ , et al. 2015
Edit
GEN1133
ACTB
actin beta
7p22.1
Syndromic
3
36
9
De Rubeis S , et al. 2014
Edit
GEN1087
ACTL6B
actin like 6B
7q22.1
Rare single gene variant
2
Yes
43
14
Bell S , et al. 2019
Edit
GEN672
ACTN4
actinin alpha 4
19q13.2
Rare single gene variant
2
6
6
Li J , et al. 2015
Edit
GEN573
ACY1
aminoacylase 1
3p21.2
Syndromic
2
Yes
16
12
Tylki-Szymanska A , et al. 2010
Edit
GEN567
ADAMTS18
ADAM metallopeptidase with thrombospondin type 1 motif 18
16q23.1
Rare single gene variant
2
Yes
10
7
Peluso I , et al. 2013
Edit
GEN407
ADARB1
Adenosine deaminase, RNA-specific, B1
21q22.3
Functional
2
11
6
Eran A , et al. 2012
Edit
GEN890
ADCY3
adenylate cyclase 3
2p23.3
Rare single gene variant
3
7
4
De Rubeis S , et al. 2014
Edit
GEN470
ADCY5
Adenylate cyclase 5
3q21.1
Rare Single Gene variant
3
16
10
O'Roak BJ , et al. 2012
Edit
GEN1340
ADGRL1
adhesion G protein-coupled receptor L1
19p13.12
Rare single gene variant
3
13
5
De Rubeis S , et al. 2014
Edit
GEN274
ADK
adenosine kinase
10q22.2
Rare Single Gene variant
Yes
2
2
Najmabadi H , et al. 2011
Edit
GEN471
ADNP
Activity-dependent neuroprotector homeobox
20q13.13
Rare Single Gene variant
5
170
78
O'Roak BJ , et al. 2012
Edit
GEN003
ADORA2A
adenosine A2a receptor
22q11.23
Genetic association
2
7
Freitag CM , et al. 2009
Edit
GEN562
ADORA3
Adenosine A3 receptor
1p13.2
Functional
3
8
4
Campbell NG , et al. 2013
Edit
GEN004
ADRB2
adrenergic, beta-2-, receptor, surface
5q32
Genetic Association
4
10
Cheslack-Postava K , et al. 2007
Edit
GEN005
ADSL
adenylosuccinate lyase
22q13.1
Rare Single Gene variant
2
10
9
Sivendran S , et al. 2004
Edit
GEN1108
ADSS2
adenylosuccinate synthase 2
1q44
Rare single gene variant
2
2
3
De Rubeis S , et al. 2014
Edit
GEN289
AFF2
AF4/FMR2 family, member 2
Xq28
Syndromic
3
46
21
Abrams MT , et al. 1997
Edit
GEN006
AFF4
AF4/FMR2 family, member 4
5q31.1
Rare Single Gene variant
2
7
9
Sanders SJ , et al. 2012
Edit
GEN047
AGAP1
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
2q37.2
Rare Single Gene variant, Genetic Association
2
17
10
Wassink TH , et al. 2005
Edit
GEN889
AGAP2
ArfGAP with GTPase domain, ankyrin repeat and PH domain 2
12q14.1
Rare single gene variant
3
16
6
De Rubeis S , et al. 2014
Edit
GEN1214
AGAP5
ArfGAP with GTPase domain, ankyrin repeat and PH domain 5
10q22.2
Rare single gene variant
2
4
2
Luo Y et al. 2020
Edit
GEN333
AGBL4
ATP/GTP binding protein-like 4
1p33
Rare Single Gene variant
16
3
Pinto D , et al. 2010
Edit
GEN253
AGMO
alkylglycerol monooxygenase
7p21.2
Genetic Association
2
14
8
Sebat J , et al. 2007
Edit
GEN1003
AGO1
argonaute 1, RISC catalytic component
1p34.3
Rare single gene variant
3
45
14
Iossifov I et al. 2014
Edit
GEN1222
AGO2
argonaute RISC catalytic component 2
8q24.3
Syndromic
3
20
2
Lessel D et al. 2020
Edit
GEN1066
AGO3
argonaute RISC catalytic component 3
1p34.3
Rare single gene variant
3
8
7
De Rubeis S , et al. 2014
Edit
GEN1062
AGO4
argonaute RISC catalytic component 4
1p34.3
Rare single gene variant
2
6
5
De Rubeis S , et al. 2014
Edit
GEN007
AGTR2
angiotensin II receptor, type 2
Xq23
Rare Single Gene variant
2
8
5
Vervoort VS , et al. 2002
Edit
GEN824
AHDC1
AT-hook DNA binding motif containing 1
1p36.11-p35.3
Syndromic
5
108
27
Iossifov I et al. 2014
Edit
GEN008
AHI1
Abelson helper integration site 1
6q23.3
Rare Single Gene variant
2
31
22
Alvarez Retuerto AI , et al. 2008
Edit
GEN1227
AHNAK
AHNAKnucleoprotein
11q12.3
Rare single gene variant
4
55
6
Wang T et al. 2020
Edit
GEN761
AKAP9
A kinase (PRKA) anchor protein 9
7q21.2
Rare single gene variant
3
17
8
Sanders SJ , et al. 2015
Edit
GEN510
ALDH1A3
aldehyde dehydrogenase 1 family member A3
15q26.3
Syndromic
2
Yes
22
7
Fares-Taie L , et al. 2013
Edit
GEN1317
ALDH1L1
aldehyde dehydrogenase 1 family member L1
3q21.3
Rare single gene variant
3
11
7
Iossifov I et al. 2014
Edit
GEN009
ALDH5A1
aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase )
6p22.3
Syndromic
2
Yes
15
15
Pearl PL , et al. 2003
Edit
GEN830
ALG6
ALG6, alpha-1,3-glucosyltransferase
1p31.3
Syndromic
1
2
Morava E , et al. 2016
Edit
GEN010
ALOX5AP
arachidonate 5-lipoxygenase-activating protein
13q12.3
Functional
0
4
Hu VW , et al. 2006
Edit
GEN981
AMBRA1
autophagy and beclin 1 regulator 1
11p11.2
Functional
2
6
8
Dere E , et al. 2014
Edit
GEN631
AMPD1
Adenosine monophosphate deaminase 1
1p13.2
Genetic association
3
13
5
Xia K , et al. 2013
Edit
GEN526
AMT
Aminomethyltransferase
3p21.31
Rare single gene variant
2
Yes
3
2
Yu TW , et al. 2013
Edit
GEN587
ANK2
Ankyrin 2, neuronal
4q25-q26
Rare Single Gene variant
5
198
32
Iossifov I , et al. 2012
Edit
GEN406
ANK3
ankyrin 3
10q21.2
Genetic Association
3
49
32
Bi C , et al. 2012
Edit
GEN011
ANKRD11
ankyrin repeat domain 11
16q24.3
Rare Single Gene variant
5
254
70
Marshall CR , et al. 2008
Edit
GEN1250
ANKRD17
ankyrin repeat domain 17
4q13.3
Rare single gene variant
4
41
6
De Rubeis S , et al. 2014
Edit
GEN673
ANKS1B
ankyrin repeat and sterile alpha motif domain containing 1B
12q23.1
Rare single gene variant
2
25
5
Li J , et al. 2015
Edit
GEN1376
ANP32A
acidic nuclear phosphoprotein 32 family member A
15q23
Functional
3
2
4
Satterstrom FK et al. 2020
Edit
GEN609
ANXA1
Annexin A1
9q21.13
Rare single gene variant
0
12
2
Correia CT , et al. 2014
Edit
GEN1258
AP1G1
adaptor related protein complex 1 subunit gamma 1
16q22.2
Rare single gene variant
3
18
4
Usmani MA et al. 2021
Edit
GEN531
AP1S2
adaptor related protein complex 1 sigma 2 subunit
Xp22.2
Syndromic
2
11
7
Borck G , et al. 2008
Edit
GEN1408
AP2M1
adaptor related protein complex 2 subunit mu 1
3q27.1
Multigenic CNV
3
13
9
Rolland T et al. 2023
Edit
GEN1148
AP2S1
adaptor related protein complex 2 subunit sigma 1
19q13.32
Rare single gene variant
2
3
3
Iossifov I et al. 2014
Edit
GEN012
APBA2
amyloid beta (A4) precursor protein-binding, family A, member 2
15q13.1
Rare Single Gene variant
3
12
8
Babatz TD , et al. 2009
Edit
GEN1014
APBB1
amyloid beta precursor protein binding family B member 1
11p15.4
Functional
3
6
4
Iossifov I et al. 2014
Edit
GEN013
APC
adenomatosis polyposis coli
5q22.2
Genetic Association
2
5
12
Barber JC , et al. 1994
Edit
GEN655
APH1A
APH1A gamma secretase subunit
1q21.2
Rare single gene variant
2
3
3
De Rubeis S , et al. 2014
Edit
GEN570
APP
Amyloid beta (A4) precursor protein
21q21.3
Functional
2
2
5
Bailey AR , et al. 2013
Edit
GEN014
AR
androgen receptor
Xq12
Genetic Association
3
6
Henningsson S , et al. 2009
Edit
GEN1382
ARF3
ADP ribosylation factor 3
12q13.12
Rare single gene variant
2
11
5
Feliciano P et al. 2019
Edit
GEN1261
ARFGEF1
ADP ribosylation factor guanine nucleotide exchange factor 1
8q13.2
Rare single gene variant
3
21
5
Thomas Q et al. 2021
Edit
GEN317
ARHGAP11B
Rho GTPase activating protein 11B
15q13.2
Rare Single Gene variant
3
3
Leblond CS , et al. 2012
Edit
GEN015
ARHGAP15
Rho GTPase activating protein 15
2q22.2-q22.3
Rare Single Gene variant
2
5
9
O'Roak BJ , et al. 2011
Edit
GEN424
ARHGAP24
Rho GTPase activating protein 24
4q21.23-q21.3
Rare single gene variant
2
2
2
Winiowiecka-Kowalnik B , et al. 2012
Edit
GEN1267
ARHGAP31
Rho GTPase activating protein 31
3q13.32-q13.33
Rare single gene variant
2
8
3
Wilfert AB et al. 2021
Edit
GEN816
ARHGAP32
Rho GTPase activating protein 32
11q24.3
Multigenic CNV
3
29
10
Akshoomoff N , et al. 2014
Edit
GEN1002
ARHGAP5
Rho GTPase activating protein 5
14q12
Rare single gene variant
3
10
6
Iossifov I et al. 2014
Edit
GEN1007
ARHGEF10
Rho guanine nucleotide exchange factor 10
8p23.3
Rare single gene variant
2
12
6
Lu DH , et al. 2018
Edit
GEN1341
ARHGEF2
Rho/Rac guanine nucleotide exchange factor 2
1q22
Rare single gene variant
3
7
7
De Rubeis S , et al. 2014
Edit
GEN715
ARHGEF9
Cdc42 guanine nucleotide exchange factor (GEF) 9
Xq11.1-q11.2
Rare single gene variant
4
45
17
Machado CO , et al. 2015
Edit
GEN357
ARID1B
AT-rich interaction domain 1B
6q25.3
Rare single gene variant
5
211
83
Nord AS , et al. 2011
Edit
GEN1089
ARID2
AT-rich interaction domain 2
12q12
Rare single gene variant
4
40
15
Iossifov I et al. 2014
Edit
GEN016
ARNT2
aryl-hydrocarbon receptor nuclear translocator 2
15q25.1
Syndromic
2
11
15
Chakrabarti B , et al. 2009
Edit
GEN017
ARX
aristaless related homeobox
Xp21.3
Rare single gene variant
3
62
27
Sherr EH 2003
Edit
GEN1039
ASAP2
ArfGAP with SH3 domain, ankyrin repeat and PH domain 2
2p25.1
Rare single gene variant
2
10
5
De Rubeis S , et al. 2014
Edit
GEN1109
ASB14
ankyrin repeat and SOCS box containing 14
3p14.3
Rare single gene variant
2
5
5
Iossifov I et al. 2014
Edit
GEN642
ASH1L
Ash1 (absent, small, or homeotic)-like (Drosophila)
1q22
Rare single gene variant
5
146
33
Willsey AJ , et al. 2013
Edit
GEN018
ASMT
acetylserotonin O-methyltransferase
Xp22.33
Rare Single Gene variant, Genetic Association
3
22
11
Melke J , et al. 2007
Edit
GEN939
ASPM
abnormal spindle microtubule assembly
1q31.3
Syndromic
4
70
13
Iossifov I et al. 2014
Edit
GEN019
ASS1
argininosuccinate synthetase
9q34.11
Functional
0
3
Hu VW , et al. 2006
Edit
GEN020
ASTN2
astrotactin 2
9q33.1
Rare Single Gene variant
2
37
20
Glessner JT , et al. 2009
Edit
GEN577
ASXL3
Additional sex combs like 3 (Drosophila)
18q12.1
Syndromic
5
108
49
Dinwiddie DL , et al. 2013
Edit
GEN623
ATG7
Autophagy related 7
3p25.3
Functional
2
Yes
18
10
Tang G , et al. 2014
Edit
GEN021
ATP10A
Probable phospholipid-transporting ATPase VA
15q12
Genetic Association
2
12
10
Nurmi EL , et al. 2003
Edit
GEN1046
ATP1A1
ATPase Na+/K+ transporting subunit alpha 1
1p13.1
Rare single gene variant
3
12
8
De Rubeis S , et al. 2014
Edit
GEN829
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
19q13.2
Syndromic
3
62
24
Demos MK , et al. 2014
Edit
GEN1313
ATP2B1
ATPase plasma membrane Ca2+ transporting 1
12q21.33
Syndromic
3
13
2
Rahimi MJ et al. 2022
Edit
GEN273
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
3p25.3
Genetic Association
4
31
15
Carayol J , et al. 2011
Edit
GEN941
ATP6V0A2
ATPase H+ transporting V0 subunit a2
12q24.31
Rare single gene variant
2
23
5
Krumm N , et al. 2015
Edit
GEN411
ATRNL1
Attractin-like 1
10q25.3
Rare single gene variant
2
6
5
Stark Z , et al. 2010
Edit
GEN288
ATRX
alpha thalassemia/mental retardation syndrome X-linked
Xq21.1
Syndromic
3
45
33
Gibbons R 2006
Edit
GEN384
ATXN7
Ataxin 7
3p14.1
Rare single gene variant
2
3
2
van Daalen E , et al. 2011
Edit
GEN022
AUTS2
activator of transcription and developmental regulatorAUTS2
7q11.22
Rare Single Gene variant
4
116
62
Sultana R , et al. 2002
Edit
GEN788
AVP
Arginine vasopressin
20p13
Functional
2
4
Feifel D , et al. 2009
Edit
GEN023
AVPR1A
arginine vasopressin receptor 1A
12q14.2
Rare Single Gene variant, Genetic Association
2
37
24
Yirmiya N , et al. 2006
Edit
GEN862
AVPR1B
arginine vasopressin receptor 1B
1q32.1
Functional
5
8
Francis SM , et al. 2016
Edit
GEN924
AZGP1
alpha-2-glycoprotein 1, zinc-binding
7q22.1
Rare single gene variant
2
5
4
Lim ET , et al. 2017
Edit
GEN1343
BACE1
beta-secretase 1
11q23.3
Functional
2
2
4
Kim IB et al. 2022
Edit
GEN024
BAIAP2
BAI1-associated protein 2
17q25.3
Genetic Association
2
11
15
Toma C , et al. 2010
Edit
GEN1318
BAIAP2L1
BAR/IMD domain containing adaptor protein 2 like 1
7q21.3-q22.1
Rare single gene variant
3
9
6
Iossifov I et al. 2014
Edit
GEN975
BAZ2B
bromodomain adjacent to zinc finger domain 2B
2q24.2
Rare single gene variant
4
26
8
Iossifov I et al. 2014
Edit
GEN515
BBS4
Bardet-Biedl syndrome 4
15q24.1
Rare single gene variant
2
8
6
Girirajan S , et al. 2013
Edit
GEN674
BCAS1
breast carcinoma amplified sequence 1
20q13.2
Rare single gene variant
2
8
5
Li J , et al. 2015
Edit
GEN423
BCKDK
Branched chain ketoacid dehydrogenase kinase
16p11.2
Rare single gene variant
2
Yes
21
8
Novarino G , et al. 2012
Edit
GEN643
BCL11A
B-cell CLL/lymphoma 11A (zinc finger protein)
2p16.1
Rare single gene variant
4
42
26
Iossifov I , et al. 2012
Edit
GEN1423
BCL11B
BCL11 transcription factor B
14q32.2
Syndromic/Functional
3
40
4
et al.
Edit
GEN025
BCL2
B-cell CLL/lymphoma 2
18q21.33
Functional
0
10
Nguyen A , et al. 2010
Edit
GEN1084
BCORL1
BCL6 corepressor like 1
Xq26.1
Rare single gene variant
3
14
8
Shukla A , et al. 2019
Edit
GEN625
BDNF
Brain-derived neurotrophic factor
11p14.1
Functional
2
13
Kyzar EJ , et al. 2012
Edit
GEN040
BICDL1
BICD family like cargo adaptor 1
12q24.23
Genetic Association
2
2
Wang K , et al. 2009
Edit
GEN1224
BICRA
BRD4 interacting chromatin remodeling complex associated protein
19q13.33
Syndromic
3
15
2
Barish S et al. 2020
Edit
GEN425
BIN1
bridging integrator 1
2q14.3
Rare single gene variant
2
6
5
Connolly JJ , et al. 2012
Edit
GEN702
BIRC6
Baculoviral IAP repeat containing 6
2p22.3
Rare single gene variant
4
50
13
Iossifov I , et al. 2012
Edit
GEN1268
BMPR1B
bone morphogenetic protein receptor type 1B
4q22.3
Rare single gene variant
2
6
3
Wilfert AB et al. 2021
Edit
GEN595
BRAF
v-raf murine sarcoma viral oncogene homolog B
7q34
Syndromic
3
48
17
Alfieri P , et al. 2014
Edit
GEN337
BRCA2
breast cancer 2, early onset
13q13.1
Rare Single Gene variant
2
13
8
Neale BM , et al. 2012
Edit
GEN1279
BRD1
bromodomain containing 1
22q13.33
Genetic association
3
11
6
Wilfert AB et al. 2021
Edit
GEN970
BRD4
bromodomain containing 4
19p13.12
Rare single gene variant
3
31
11
Iossifov I , et al. 2012
Edit
GEN820
BRINP1
BMP/retinoic acid inducible neural specific 1
9q33.1
Functional
0
1
3
Kobayashi M , et al. 2014
Edit
GEN1219
BRINP3
BMP/retinoic acid inducible neural specific 3
1q31.1
Functional
2
Yes
3
3
Schmitz-Abe K et al. 2020
Edit
GEN1080
BRSK2
BR serine/threonine kinase 2
11p15.5
Rare single gene variant
5
33
12
De Rubeis S , et al. 2014
Edit
GEN1132
BRWD3
bromodomain and WD repeat domain containing 3
Xq21.1
Syndromic
3
26
9
Field M , et al. 2007
Edit
GEN902
BST1
bone marrow stromal cell antigen 1
4p15.32
Multigenic CNV
0
5
6
Yokoyama S , et al. 2015
Edit
GEN298
BTAF1
RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae)
10q23.32
Rare Single Gene variant
3
16
9
Salyakina D , et al. 2011
Edit
GEN1095
BTRC
beta-transducin repeat containing E3 ubiquitin protein ligase
10q24.32
Rare single gene variant
2
4
4
De Rubeis S , et al. 2014
Edit
GEN544
C12orf57
Chromosome 12 open reading frame 57
12p13.31
Syndromic
2
45
15
Akizu N , et al. 2013
Edit
GEN955
C15orf62
chromosome 15 open reading frame 62
15q15.1
Rare single gene variant
2
3
3
O'Roak BJ , et al. 2012
Edit
GEN029
C4B
complement component 4B
6p21.33
Genetic Association
0
2
6
Odell D , et al. 2005
Edit
GEN030
CA6
carbonic anhydrase VI
1p36.23
Rare Single Gene variant
0
5
7
Bucan M , et al. 2009
Edit
GEN707
CACNA1A
Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
19p13.13
Rare single gene variant
4
119
37
Damaj L , et al. 2015
Edit
GEN408
CACNA1B
calcium voltage-gated channel subunit alpha1 B
9q34.3
Genetic association
3
36
13
Yatsenko SA , et al. 2012
Edit
GEN031
CACNA1C
calcium channel, voltage-dependent, L type, alpha 1C subunit
12p13.33
Syndromic
4
85
62
Splawski I , et al. 2004
Edit
GEN032
CACNA1D
calcium channel, voltage-dependent, L type, alpha 1D
3p21.1
Functional
4
68
31
Jinnah HA , et al. 1999
Edit
GEN813
CACNA1E
calcium voltage-gated channel subunit alpha1 E
1q25.3
Rare single gene variant
4
69
22
O'Roak BJ , et al. 2012
Edit
GEN033
CACNA1F
calcium channel, voltage-dependent, alpha 1F
Xp11.23
Genetic Association
2
9
9
Strom TM , et al. 1998
Edit
GEN034
CACNA1G
calcium channel, voltage-dependent, T type, alpha 1G subunit
17q21.33
Genetic Association
3
48
25
Strom SP , et al. 2009
Edit
GEN035
CACNA1H
calcium channel, voltage-dependent, alpha 1H subunit
16p13.3
Rare Single Gene variant
4
64
33
Splawski I , et al. 2006
Edit
GEN488
CACNA1I
Calcium channel, voltage-dependent, T type, alpha 1I subunit
22q13.1
Genetic association
3
22
10
Lu AT , et al. 2012
Edit
GEN1031
CACNA2D1
calcium voltage-gated channel auxiliary subunit alpha2delta 1
7q21.11
Rare single gene variant
2
11
8
Iossifov I et al. 2014
Edit
GEN656
CACNA2D3
Calcium channel, voltage-dependent, alpha 2/delta subunit 3
3p21.1-p14.3
Rare single gene variant
4
48
13
Iossifov I , et al. 2012
Edit
GEN1200
CACNB1
calcium voltage-gated channel auxiliary subunit beta 1
17q12
Rare single gene variant
2
10
3
Trost B et al. 2020
Edit
GEN612
CACNB2
Calcium channel, voltage-dependent, beta 2 subunit
10p12.33-p12.31
Genetic association
3
16
12
Breitenkamp AF , et al. 2014
Edit
GEN1409
CACNG2
calcium voltage-gated channel auxiliary subunit gamma 2
22q12.3
Rare single gene variant/Functional
2
4
6
Rolland T et al. 2023
Edit
GEN1269
CAD
carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
2p23.3
Rare single gene variant
2
8
6
Wilfert AB et al. 2021
Edit
GEN036
CADM1
cell adhesion molecule 1
11q23.3
Rare Single Gene variant
2
6
10
Zhiling Y , et al. 2008
Edit
GEN670
CADM2
Cell adhesion molecule 2
3p12.1
Genetic association
2
5
6
Casey JP , et al. 2011
Edit
GEN1079
CADPS
calcium dependent secretion activator
3p14.2
Genetic association
2
5
5
Grove J , et al. 2019
Edit
GEN037
CADPS2
Ca2+-dependent activator protein for secretion 2
7q31.32
Rare Single Gene variant
2
24
13
Cisternas FA , et al. 2003
Edit
GEN864
CAMK2A
calcium/calmodulin dependent protein kinase II alpha
5q32
Rare single gene variant
3
25
12
Iossifov I et al. 2014
Edit
GEN985
CAMK2B
calcium/calmodulin dependent protein kinase II beta
7p13
Syndromic
2
19
10
Kry S , et al. 2017
Edit
GEN594
CAMK4
calcium/calmodulin dependent protein kinase IV
5q22.1
Genetic association
3
6
6
Waltes R , et al. 2014
Edit
GEN322
CAMSAP2
calmodulin regulated spectrin-associated protein family, member 2
1q32.1
Rare Single Gene variant
0
2
2
Leblond CS , et al. 2012
Edit
GEN291
CAMTA1
calmodulin binding transcription activator 1
1p36.31-p36.23
Rare single gene variant
3
22
12
Mikhail FM , et al. 2011
Edit
GEN1373
CAMTA2
calmodulin binding transcription activator 2
17p13.2
Syndromic
2
3
3
Zhou X et al. 2022
Edit
GEN772
CAPN12
Calpain 12
19q13.2
Rare single gene variant
3
38
7
Sanders SJ , et al. 2015
Edit
GEN555
CAPRIN1
Cell cycle associated protein 1
11p13
Functional
4
17
6
Jiang YH , et al. 2013
Edit
GEN928
CARD11
caspase recruitment domain family member 11
7p22.2
Rare single gene variant
2
4
2
Lim ET , et al. 2017
Edit
GEN876
CASK
calcium/calmodulin dependent serine protein kinase
Xp11.4
Syndromic
3
44
27
Iossifov I et al. 2014
Edit
GEN1350
CASKIN1
CASK interacting protein 1
16p13.3
Functional
3
14
8
Zhou X et al. 2022
Edit
GEN1060
CASZ1
castor zinc finger 1
1p36.22
Rare single gene variant
4
54
7
C Yuen RK et al. 2017
Edit
GEN1319
CAT
catalase
11p13
Functional
2
5
4
Iossifov I et al. 2014
Edit
GEN897
CBLN1
cerebellin 1 precursor
16q12.1
Functional
1
6
Krishnan V , et al. 2017
Edit
GEN039
CBS
cystathionine beta-synthase
21q22.3
Functional, Negative association
2
9
10
Levy HL , et al. 2002
Edit
GEN1396
CBX1
chromobox 1
17q21.32
Rare single gene variant
3
6
3
Kuroda Y et al. 2023
Edit
GEN621
CC2D1A
Coiled-coil and C2 domain containing 1A
19p13.12
Rare single gene variant
2
Yes
27
17
Manzini MC , et al. 2014
Edit
GEN735
CCDC88C
Coiled-coil domain containing 88C
14q32.11-q32.12
Rare single gene variant
3
13
9
Krumm N , et al. 2015
Edit
GEN799
CCDC91
coiled-coil domain containing 91
12p11.22
Rare single gene variant
2
5
6
Shen Y , et al. 2010
Edit
GEN1110
CCIN
calicin
9p13.3
Rare single gene variant
2
2
2
De Rubeis S , et al. 2014
Edit
GEN1040
CCNG1
cyclin G1
5q34
Rare single gene variant
0
7
2
Kushima I , et al. 2018
Edit
GEN1035
CCNK
cyclin K
14q32.2
Syndromic
2
8
5
Fan Y , et al. 2018
Edit
GEN1097
CCSER1
coiled-coil serine rich protein 1
4q22.1
Rare single gene variant
2
5
4
De Rubeis S , et al. 2014
Edit
GEN752
CCT4
Chaperonin containing TCP1, subunit 4 (delta)
2p15
Rare single gene variant
2
2
3
Iossifov I et al. 2014
Edit
GEN969
CD276
CD276molecule
15q24.1
Rare single gene variant
2
8
4
Li J , et al. 2017
Edit
GEN328
CD38
CD38 molecule
4p15.32
Genetic Association
2
13
10
Munesue T , et al. 2010
Edit
GEN041
CD44
CD44 molecule (Indian blood group)
11p13
Functional
2
2
5
Hu VW , et al. 2006
Edit
GEN380
CD99L2
CD99 molecule like 2
Xq28
Genetic association
2
1
Ramos PS , et al. 2012
Edit
GEN657
CDC42BPB
CDC42 binding protein kinase beta (DMPK-like)
14q32.32
Rare single gene variant
3
37
11
O'Roak BJ , et al. 2012
Edit
GEN042
CDH10
cadherin 10, type 2 (T2-cadherin)
5p14.2-p14.1
Genetic Association
3
20
11
Wang K , et al. 2009
Edit
GEN615
CDH11
cadherin 11
16q21
Rare Single Gene variant/genetic association
3
19
8
Crepel A , et al. 2014
Edit
GEN1041
CDH13
cadherin 13
16q23.3
Rare single gene variant
2
13
6
Iossifov I et al. 2014
Edit
GEN1403
CDH2
cadherin 2
18q12.1
Rare single gene variant
3
14
8
Miyake N et al. 2023
Edit
GEN043
CDH22
cadherin-like 22
20q13.12
Genetic Association
2
4
Wang K , et al. 2009
Edit
GEN044
CDH8
cadherin 8, type 2
16q21
Rare Single Gene variant
2
11
12
Pagnamenta AT , et al. 2010
Edit
GEN045
CDH9
cadherin 9, type 2 (T1-cadherin)
5p14.1
Genetic Association
2
14
7
Wang K , et al. 2009
Edit
GEN982
CDK13
cyclin dependent kinase 13
7p14.1
Rare single gene variant
4
100
20
Hamilton MJ , et al. 2017
Edit
GEN1365
CDK16
cyclin dependent kinase 16
Xp11.3
Rare single gene variant
2
4
3
Satterstrom FK et al. 2020
Edit
GEN1233
CDK19
cyclin dependent kinase 19
6q21
Rare single gene variant
4
19
7
Iossifov I et al. 2014
Edit
GEN1342
CDK5RAP2
CDK5 regulatory subunit associated protein 2
9q33.2
Syndromic
3
23
14
Kim IB et al. 2022
Edit
GEN1081
CDK8
cyclin dependent kinase 8
13q12.13
Syndromic
3
18
5
Calpena E , et al. 2019
Edit
GEN046
CDKL5
cyclin-dependent kinase-like 5
Xp22.13
Syndromic
4
Yes
124
57
Weaving LS , et al. 2004
Edit
GEN532
CDKN1B
cyclin dependent kinase inhibitor 1B
12p13.1
Multigenic CNV/rare single gene variant
2
Yes
2
1
Grey W , et al. 2013
Edit
GEN1201
CDON
cell adhesion associated, oncogene regulated
11q24.2
Rare single gene variant
2
15
4
Trost B et al. 2020
Edit
GEN507
CECR2
CECR2, histone acetyl-lysine reader
22q11.1-q11.21
Rare single gene variant
2
8
3
Prasad A , et al. 2013
Edit
GEN1289
CELF2
CUGBP Elav-like family member 2
10p14
Rare single gene variant
3
9
4
C Yuen RK et al. 2017
Edit
GEN487
CELF4
CUGBP, Elav-like family member 4
18q12.2
Functional
3
15
15
Halgren C , et al. 2012
Edit
GEN523
CELF6
CUGBP, Elav-like family member 6
15q23
Genetic association/Rare single gene variant/Functional
2
7
5
Dougherty JD , et al. 2013
Edit
GEN958
CEP135
centrosomal protein 135
4q12
Syndromic
3
30
7
De Rubeis S , et al. 2014
Edit
GEN583
CEP290
Centrosomal protein 290kDa
12q21.32
Syndromic
3
23
13
Coppieters F , et al. 2010
Edit
GEN257
CEP41
testis specific, 14
7q32.2
Rare Single Gene variant
3
14
6
Korvatska O , et al. 2011
Edit
GEN718
CGNL1
Cingulin-like 1
15q21.3
Rare single gene variant
2
8
7
Krumm N , et al. 2015
Edit
GEN1134
CHAMP1
chromosome alignment maintaining phosphoprotein 1
13q34
Syndromic
4
47
16
Hempel M , et al. 2015
Edit
GEN971
CHD1
chromodomain helicase DNA binding protein 1
5q15-q21.1
Rare single gene variant
3
17
11
Neale BM , et al. 2012
Edit
GEN548
CHD2
Chromodomain helicase DNA binding protein 2
15q26.1
Syndromic
5
201
75
Carvill GL , et al. 2013
Edit
GEN1048
CHD3
chromodomain helicase DNA binding protein 3
17p13.1
Rare single gene variant
4
111
16
Iossifov I et al. 2014
Edit
GEN912
CHD5
chromodomain helicase DNA binding protein 5
1p36.31
Rare single gene variant
3
30
11
Pisansky MT , et al. 2017
Edit
GEN280
CHD7
chromodomain helicase DNA binding protein 7
8q12.2
Syndromic
4
62
45
Vissers LE , et al. 2004
Edit
GEN334
CHD8
chromodomain helicase DNA binding protein 8
14q11.2
Multigenic CNV
5
309
99
O'Roak BJ , et al. 2012
Edit
GEN1303
CHD9
chromodomain helicase DNA binding protein 9
16q12.2
Rare single gene variant
3
15
8
Iossifov I et al. 2014
Edit
GEN741
CHKB
Choline kinase beta
22q13.33
Syndromic
2
Yes
39
9
Haliloglu G , et al. 2015
Edit
GEN1186
CHM
CHMRab escort protein
Xq21.2
Rare single gene variant
3
12
7
C Yuen RK et al. 2017
Edit
GEN949
CHMP1A
charged multivesicular body protein 1A
16q24.3
Syndromic
2
8
5
De Rubeis S , et al. 2014
Edit
GEN490
CHRM3
cholinergic receptor muscarinic 3
1q43
Multigenic CNV
2
8
7
Petersen AK , et al. 2012
Edit
GEN292
CHRNA7
cholinergic receptor, nicotinic, alpha 7
15q13.3
Multigenic CNV
2
35
16
Mikhail FM , et al. 2011
Edit
GEN498
CHRNB3
cholinergic receptor nicotinic beta 3 subunit
8p11.21
Rare single gene variant
0
5
3
Prasad A , et al. 2013
Edit
GEN1320
CHST2
carbohydrate sulfotransferase 2
3q24
Rare single gene variant
2
2
3
Iossifov I et al. 2014
Edit
GEN048
CHST5
carbohydrate sulfotransferase 5
16q23.1
Rare Single Gene variant
2
2
6
O'Roak BJ , et al. 2011
Edit
GEN500
CIB2
Calcium and integrin binding family member 2
15q25.1
Rare single gene variant
0
4
2
Prasad A , et al. 2013
Edit
GEN720
CIBAR2
CBY1 interacting BAR domain containing 2
16q24.1
Rare single gene variant
2
3
3
Krumm N , et al. 2015
Edit
GEN882
CIC
capicua transcriptional repressor
19q13.2
Rare single gene variant
4
25
13
Iossifov I et al. 2014
Edit
GEN891
CLASP1
cytoplasmic linker associated protein 1
2q14.2-q14.3
Rare single gene variant
2
5
4
De Rubeis S , et al. 2014
Edit
GEN1259
CLCN3
chloride voltage-gated channel 3
4q33
Rare single gene variant
3
Yes
15
5
Engeland CE et al. 2020
Edit
GEN1118
CLCN4
chloride voltage-gated channel 4
Xp22.2
Syndromic
4
71
11
Feliciano P et al. 2019
Edit
GEN1195
CLIP2
CAP-Gly domain containing linker protein 2
7q11.23
Genetic association
2
1
Yousaf A et al. 2020
Edit
GEN710
CLN8
Ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
8p23.3
Syndromic
2
10
5
Egawa J , et al. 2015
Edit
GEN917
CLSTN2
calsyntenin 2
3q23
Functional
2
Yes
3
5
Monies D , et al. 2017
Edit
GEN579
CLSTN3
Calsyntenin 3
12p13.31
Functional
2
6
7
Pettem KL , et al. 2013
Edit
GEN349
CLTCL1
clathrin, heavy chain-like 1
22q11.21
Rare single gene variant
2
Yes
27
8
Chahrour MH , et al. 2012
Edit
GEN382
CMIP
c-Maf inducing protein
16q23.2-q23.3
Genetic Association
0
20
6
Van der Aa N , et al. 2012
Edit
GEN1098
CMPK2
cytidine/uridine monophosphate kinase 2
2p25.2
Rare single gene variant
2
4
4
Iossifov I et al. 2014
Edit
GEN925
CNGB3
cyclic nucleotide gated channel beta 3
8q21.3
Rare single gene variant
3
13
6
De Rubeis S , et al. 2014
Edit
GEN865
CNKSR2
connector enhancer of kinase suppressor of Ras 2
Xp22.12
Syndromic
4
32
13
et al. 2017
Edit
GEN1191
CNOT1
CCR4-NOT transcription complex subunit 1
16q21
Rare single gene variant
3
46
8
Iossifov I et al. 2014
Edit
GEN866
CNOT3
CCR4-NOT transcription complex subunit 3
19q13.42
Rare single gene variant
4
43
19
et al. 2017
Edit
GEN049
CNR1
cannabinoid receptor 1 (brain)
6q15
Genetic Association
2
34
8
Chakrabarti B , et al. 2006
Edit
GEN537
CNR2
Cannabinoid receptor 2 (macrophage)
1p36.11
Genetic association
0
7
7
Siniscalco D , et al. 2013
Edit
GEN306
CNTN3
contactin 3
3p12.3
Rare Single Gene variant
2
6
6
Vaags AK , et al. 2012
Edit
GEN050
CNTN4
contactin 4
3p26.3-p26.2
Syndromic
3
29
27
Roohi J , et al. 2008
Edit
GEN385
CNTN5
Contactin 5
11q22.1
Rare single gene variant
3
36
11
van Daalen E , et al. 2011
Edit
GEN386
CNTN6
Contactin 6
3p26.3
Rare single gene variant
3
69
17
van Daalen E , et al. 2011
Edit
GEN051
CNTNAP2
contactin associated protein-like 2
7q35-q36.1
Syndromic
4
174
96
Arking DE , et al. 2008
Edit
GEN307
CNTNAP3
contactin associated protein-like 3
9p12
Rare Single Gene variant
3
10
7
Vaags AK , et al. 2012
Edit
GEN616
CNTNAP4
Contactin associated protein-like 4
16q23.1
Rare Single Gene variant
3
32
15
Karayannis T , et al. 2014
Edit
GEN052
CNTNAP5
contactin associated protein-like 5
2q14.3
Genetic Association
3
24
16
Pagnamenta AT , et al. 2010
Edit
GEN964
COL28A1
collagen type XXVIII alpha 1 chain
7p21.3
Rare single gene variant
3
44
5
Krumm N , et al. 2015
Edit
GEN214
COP1
COP1 E3 ubiquitin ligase
1q25.1-q25.2
Genetic Association
2
3
10
Glessner JT , et al. 2009
Edit
GEN1169
CORO1A
coronin 1A
16p11.2
Rare single gene variant
2
4
3
Satterstrom FK et al. 2020
Edit
GEN1033
CPEB4
cytoplasmic polyadenylation element binding protein 4
5q35.2
Functional
2
2
3
Parras A , et al. 2018
Edit
GEN1375
CPSF7
cleavage and polyadenylation specific factor 7
11q12.2
Rare single gene variant
2
8
7
C Yuen RK et al. 2017
Edit
GEN963
CPT2
carnitine palmitoyltransferase 2
1p32.3
Rare single gene variant
3
8
4
Li J , et al. 2017
Edit
GEN1121
CPZ
carboxypeptidase Z
4p16.1
Rare single gene variant
2
12
5
De Rubeis S , et al. 2014
Edit
GEN285
CREBBP
CREB binding protein
16p13.3
Syndromic
4
117
39
Barnby G , et al. 2005
Edit
GEN844
CRHR2
corticotropin releasing hormone receptor 2
7p14.3
Functional
2
2
5
Shemesh Y , et al. 2016
Edit
GEN1130
CSDE1
cold shock domain containing E1
1p13.2
Rare single gene variant
4
31
7
Iossifov I et al. 2014
Edit
GEN596
CSMD1
CUB and Sushi multiple domains 1
8p23.2
Rare Single Gene variant
4
40
19
Cukier HN , et al. 2014
Edit
GEN1309
CSMD3
CUB and Sushi multiple domains 3
8q23.3
Rare single gene variant
3
33
10
Floris C et al. 2008
Edit
GEN330
CSNK1D
casein kinase 1, delta
17q25.3
Rare Single Gene variant
2
4
3
Pinto D , et al. 2010
Edit
GEN996
CSNK1E
casein kinase 1 epsilon
22q13.1
Functional
3
7
8
De Rubeis S , et al. 2014
Edit
GEN1221
CSNK1G1
casein kinase 1 gamma 1
15q22.31
Rare single gene variant
3
6
3
Gold NB et al. 2020
Edit
GEN1196
CSNK2A1
casein kinase 2 alpha 1
20p13
Rare single gene variant
4
45
16
Iossifov I et al. 2014
Edit
GEN1254
CSNK2B
casein kinase 2 beta
6p21.33
Syndromic
2
62
11
Poirier K et al. 2017
Edit
GEN549
CTCF
CCCTC-binding factor
16q22.1
Functional
4
83
24
Ishihara K , et al. 2006
Edit
GEN1023
CTNNA2
catenin alpha 2
2p12
Syndromic
2
10
5
Schaffer AE , et al. 2018
Edit
GEN053
CTNNA3
catenin (cadherin-associated protein), alpha 3
10q21.3
Genetic Association
3
Yes
62
19
Wang K , et al. 2009
Edit
GEN472
CTNNB1
catenin beta 1
3p22.1
Rare Single Gene variant
4
124
37
O'Roak BJ , et al. 2012
Edit
GEN711
CTNND2
Catenin (cadherin-associated protein), delta 2
5p15.2
Rare single gene variant
3
28
15
Turner TN , et al. 2015
Edit
GEN1334
CTR9
CTR9homolog, Paf1/RNA polymerase II complex component
11p15.4
Rare single gene variant
3
29
9
De Rubeis S , et al. 2014
Edit
GEN054
CTTNBP2
cortactin binding protein 2
7q31.31
Rare Single Gene variant
3
45
15
Cheung J , et al. 2001
Edit
GEN409
CUL3
Cullin 3
2q36.2
Rare single gene variant
4
56
34
O'Roak BJ , et al. 2012
Edit
GEN719
CUL7
Cullin 7
6p21.1
Rare single gene variant
3
27
8
Iossifov I et al. 2014
Edit
GEN847
CUX1
cut like homeobox 1
7q22.1
Functional
3
Yes
46
14
Doan RN , et al. 2016
Edit
GEN1011
CUX2
cut like homeobox 2
12q24.11-q24.12
Rare single gene variant
3
28
13
De Rubeis S , et al. 2014
Edit
GEN599
CX3CR1
Chemokine (C-X3-C motif) receptor 1
3p22.2
Functional
2
9
4
Zhan Y , et al. 2014
Edit
GEN055
CXCR3
chemokine (C-X-C motif) receptor 3
Xq13.1
Rare Single Gene variant
2
4
9
Piton A , et al. 2010
Edit
GEN320
CYFIP1
cytoplasmic FMR1 interacting protein 1
15q11.2
Multigenic CNV
3
15
22
Leblond CS , et al. 2012
Edit
GEN801
CYLC2
cylicin, basic protein of sperm head cytoskeleton 2
9q31.1
Rare single gene variant
2
3
4
Levy D , et al. 2011
Edit
GEN056
CYP11B1
cytochrome P450, family 11, subfamily B, polypeptide 1
8q24.3
Syndromic
2
4
Chakrabarti B , et al. 2009
Edit
GEN1017
CYP27A1
cytochrome P450 family 27 subfamily A member 1
2q35
Syndromic
0
15
6
Stelten BML , et al. 2017
Edit
GEN057
DAB1
disabled homolog 1 (Drosophila)
1p32.2-p32.1
Functional
1
7
Fatemi SH , et al. 2005
Edit
GEN508
DAGLA
diacylglycerol lipase alpha
11q12.2
Rare single gene variant
3
42
7
Prasad A , et al. 2013
Edit
GEN058
DAPK1
death-associated protein kinase 1
9q21.33
Functional
3
14
10
Hu VW , et al. 2006
Edit
GEN494
DAPP1
Dual adaptor of phosphotyrosine and 3-phosphoinositides
4q23
Rare single gene variant
2
4
3
Prasad A , et al. 2013
Edit
GEN1193
DCC
DCCnetrin 1 receptor
18q21.2
Genetic association
2
6
5
Wu Y et al. 2020
Edit
GEN059
DCTN5
dynactin 5
16p12.2
Rare Single Gene variant
2
2
4
O'Roak BJ , et al. 2011
Edit
GEN060
DCUN1D1
DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)
3q26.33
Functional
0
3
Mas C , et al. 2000
Edit
GEN061
DCX
doublecortin
Xq23
Rare Single Gene variant
2
13
13
Vourc'h P , et al. 2002
Edit
GEN378
DDC
dopa decarboxylase
7p12.2-p12.1
Genetic association
2
6
7
Toma C , et al. 2012
Edit
GEN1204
DDHD2
DDHD domain containing 2
8p11.23
Rare single gene variant
2
6
6
Matoba N et al. 2020
Edit
GEN062
DDX11
DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11
12p11.21
Functional
0
3
Hu VW , et al. 2006
Edit
GEN1253
DDX23
DEAD-box helicase 23
12q13.12
Rare single gene variant
2
10
2
Burns W et al. 2021
Edit
GEN745
DDX3X
DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
Xp11.4
Rare single gene variant
5
335
50
Snijders Blok L , et al. 2015
Edit
GEN332
DDX53
DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
Xp22.11
Rare Single Gene variant
2
9
5
Pinto D , et al. 2010
Edit
GEN610
DEAF1
DEAF1 transcription factor
11p15.5
Rare single gene variant
5
88
30
Vulto-van Silfhout AT , et al. 2014
Edit
GEN825
DENR
density-regulated protein
12q24.31
Rare single gene variant
3
3
4
Neale BM , et al. 2012
Edit
GEN541
DEPDC5
DEP domain containing 5
22q12.2-q12.3
Syndromic
3
104
21
Dibbens LM , et al. 2013
Edit
GEN1389
DGKI
diacylglycerol kinase iota
7q33
Genetic association
2
3
4
Ruzzo EK , et al. 2019
Edit
GEN833
DGKK
diacylglycerol kinase kappa
Xp11.22
Functional
0
1
Tabet R , et al. 2016
Edit
GEN675
DGKZ
diacylglycerol kinase zeta
11p11.2
Rare single gene variant
2
5
3
Li J , et al. 2015
Edit
GEN063
DHCR7
7-dehydrocholesterol reductase
11q13.4
Syndromic
2
36
19
Tierney E , et al. 2001
Edit
GEN987
DHX30
DExH-box helicase 30
3p21.31
Syndromic
3
49
11
Lessel D , et al. 2017
Edit
GEN1405
DHX9
DExH-box helicase 9
1q25.3
Rare single gene variant
3
25
5
Yamada M et al. 2023
Edit
GEN064
DIAPH3
Diaphanous-related formin 3
13q21.2
Rare Single Gene variant
2
Yes
11
16
Vorstman JA , et al. 2010
Edit
GEN644
DIP2A
DIP2 disco-interacting protein 2 homolog A (Drosophila)
21q22.3
Rare single gene variant
3
18
13
Iossifov I , et al. 2012
Edit
GEN883
DIP2C
disco interacting protein 2 homolog C
10p15.3
Rare single gene variant
3
10
5
Iossifov I et al. 2014
Edit
GEN028
DIPK2A
divergent protein kinase domain 2A
3q24
Rare Single Gene variant
3
3
Morrow EM , et al. 2008
Edit
GEN065
DISC1
disrupted in schizophrenia 1
1q42.2
Syndromic
2
36
37
Kilpinen H , et al. 2007
Edit
GEN852
DIXDC1
DIX domain containing 1
11q23.1
Functional
4
48
6
Martin PM , et al. 2016
Edit
GEN676
DLG1
discs large MAGUK scaffold protein 1
3q29
Rare single gene variant
3
12
6
Li J , et al. 2015
Edit
GEN1107
DLG2
discs large MAGUK scaffold protein 2
11q14.1
Rare single gene variant
2
26
14
De Rubeis S , et al. 2014
Edit
GEN412
DLG4
discs large MAGUK scaffold protein 4
17p13.1
Functional
5
82
23
Feyder M , et al. 2010
Edit
GEN677
DLGAP1
DLG associated protein 1
18p11.31
Rare single gene variant
3
18
13
Li J , et al. 2015
Edit
GEN066
DLGAP2
discs, large (Drosophila) homolog-associated protein 2
8p23.3
Rare Single Gene variant
3
36
18
Marshall CR , et al. 2008
Edit
GEN550
DLGAP3
DLG associated protein 3
1p34.3
Functional
2
15
12
Welch JM , et al. 2007
Edit
GEN1078
DLGAP4
DLG associated protein 4
20q11.23
Functional
2
4
4
Schob C , et al. 2019
Edit
GEN1094
DLL1
delta like canonical Notch ligand 1
6q27
Rare single gene variant
3
19
6
O'Roak BJ , et al. 2014
Edit
GEN067
DLX1
distal-less homeobox 1
2q31.1
Genetic Association
2
5
9
Liu X , et al. 2008
Edit
GEN068
DLX2
distal-less homeobox 2
2q31.1
Genetic Association
2
11
Liu X , et al. 2008
Edit
GEN1063
DLX3
distal-less homeobox 3
17q21.33
Rare single gene variant
2
7
4
Iossifov I et al. 2014
Edit
GEN069
DLX6
distal-less homeobox 6
7q21.3
Rare Single Gene variant
2
4
10
Nakashima N , et al. 2009
Edit
GEN070
DMD
dystrophin (muscular dystrophy, Duchenne and Becker types)
Xp21.2-p21.1
Syndromic
3
49
46
Wu JY , et al. 2006
Edit
GEN071
DMPK
dystrophia myotonica-protein kinase
19q13.32
Syndromic
3
16
12
Ekstrm AB , et al. 2008
Edit
GEN1120
DMWD
DM1 locus, WD repeat containing
19q13.32
Rare single gene variant
2
5
4
C Yuen RK et al. 2017
Edit
GEN736
DMXL2
Dmx-like 2
15q21.2
Rare single gene variant
3
8
8
Iossifov I et al. 2014
Edit
GEN703
DNAH10
Dynein, axonemal, heavy chain 10
12q24.31
Rare single gene variant
4
101
10
Iossifov I , et al. 2012
Edit
GEN937
DNAH17
dynein axonemal heavy chain 17
17q25.3
Rare single gene variant
3
20
9
De Rubeis S , et al. 2014
Edit
GEN966
DNAH3
dynein axonemal heavy chain 3
16p12.3
Rare single gene variant
4
147
8
Krumm N , et al. 2015
Edit
GEN426
DNAJC19
DnaJ heat shock protein family (Hsp40) member C19
3q26.33
Functional
0
1
Anitha A , et al. 2012
Edit
GEN395
DNER
Delta/notch-like EGF repeat containing
2q36.3
Genetic association
2
4
3
Anney R , et al. 2012
Edit
GEN1426
DNM1
dynamin 1
9q34.11
Rare single gene variant
3
34
9
et al.
Edit
GEN427
DNM1L
Dynamin 1-like
12p11.21
Functional
2
10
9
Anitha A , et al. 2012
Edit
GEN762
DNMT3A
DNA (cytosine-5-)-methyltransferase 3 alpha
2p23.3
Rare single gene variant
4
115
31
Sanders SJ , et al. 2015
Edit
GEN748
DOCK1
Dedicator of cytokinesis 1
10q26.2
Rare single gene variant
2
3
3
Griswold AJ , et al. 2015
Edit
GEN539
DOCK10
Dedicator of cytokinesis 10
2q36.2
Rare single gene variant
2
Yes
4
2
Nava C , et al. 2013
Edit
GEN603
DOCK4
Dedicator of cytokinesis 4
7q31.1
Genetic association/multigenic CNV
2
13
11
Maestrini E , et al. 2009
Edit
GEN853
DOCK8
dedicator of cytokinesis 8
9p24.3
Rare single gene variant
3
33
12
De Rubeis S , et al. 2014
Edit
GEN557
DOLK
dolichol kinase
9q34.11
Syndromic
0
Yes
4
4
Helander A , et al. 2013
Edit
GEN072
DPP10
Dipeptidyl-peptidase 10
2q14.1
Rare Single Gene variant
2
16
13
Marshall CR , et al. 2008
Edit
GEN1111
DPP3
dipeptidyl peptidase 3
11q13.2
Rare single gene variant
2
6
4
De Rubeis S , et al. 2014
Edit
GEN750
DPP4
Dipeptidyl-peptidase 4
2q24.2
Rare single gene variant
2
Yes
6
6
Lim ET , et al. 2013
Edit
GEN073
DPP6
dipeptidyl-peptidase 6
7q36.2
Genetic Association
3
28
28
Marshall CR , et al. 2008
Edit
GEN074
DPYD
dihydropyrimidine dehydrogenase
1p21.3
Rare Single Gene variant
2
30
15
Marshall CR , et al. 2008
Edit
GEN998
DPYSL2
dihydropyrimidinase like 2
8p21.2
Genetic association
2
6
17
De Rubeis S , et al. 2014
Edit
GEN991
DPYSL3
dihydropyrimidinase like 3
5q32
Rare single gene variant
2
3
3
Iossifov I et al. 2014
Edit
GEN576
DRD1
Dopamine receptor D1
5q35.2
Genetic association
4
4
Hettinger JA , et al. 2008
Edit
GEN358
DRD2
Dopamine receptor D2
11q23.2
Rare single gene variant
2
11
7
Hettinger JA , et al. 2012
Edit
GEN075
DRD3
dopamine receptor D3
3q13.31
Genetic Association
2
6
9
de Krom M , et al. 2008
Edit
GEN645
DSCAM
Down syndrome cell adhesion molecule
21q22.2
Rare single gene variant
4
102
17
Iossifov I et al. 2014
Edit
GEN581
DST
Dystonin
6p12.1
Rare single gene variant
3
27
11
Kenny EM , et al. 2013
Edit
GEN836
DUSP15
dual specificity phosphatase 15
20q11.21
Rare single gene variant
2
10
7
Tian Y , et al. 2016
Edit
GEN323
DUSP22
dual specificity phosphatase 22
6p25.3
Rare Single Gene variant
1
1
Leblond CS , et al. 2012
Edit
GEN796
DVL1
Dishevelled segment polarity protein 1
1p36.33
Functional
0
3
Lijam N , et al. 1997
Edit
GEN797
DVL3
Dishevelled segment polarity protein 3
3q27.1
Rare single gene variant
2
4
6
Dong S , et al. 2014
Edit
GEN516
DYDC1
DPY30 domain containing 1
10q23.1
Multigenic CNV
2
8
2
Girirajan S , et al. 2013
Edit
GEN517
DYDC2
DPY30 domain containing 2
10q23.1
Multigenic CNV
7
1
Girirajan S , et al. 2013
Edit
GEN888
DYNC1H1
dynein cytoplasmic 1 heavy chain 1
14q32.31
Rare single gene variant
4
69
32
De Rubeis S , et al. 2014
Edit
GEN367
DYRK1A
Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
21q22.13
Syndromic
5
270
75
O'Roak BJ , et al. 2012
Edit
GEN989
EBF3
early B-cell factor 3
10q26.3
Rare single gene variant
4
106
22
Tanaka AJ , et al. 2017
Edit
GEN1351
ECPAS
Ecm29 proteasome adaptor and scaffold
9q31.3
Rare single gene variant
3
6
4
Zhou X et al. 2022
Edit
GEN608
EEF1A2
Eukaryotic translation elongation factor 1 alpha 2
20q13.33
Syndromic
3
41
19
Nakajima J , et al. 2014
Edit
GEN613
EFR3A
EFR3 homolog A (S. cerevisiae)
8q24.22
Rare Single Gene variant
3
24
9
Gupta AR , et al. 2014
Edit
GEN076
EGR2
early growth response 2 (Krox-20 homolog, Drosophila)
10q21.3
Functional
0
1
5
Hu VW , et al. 2006
Edit
GEN1123
EGR3
early growth response 3
8p21.3
Rare single gene variant
2
5
3
De Rubeis S , et al. 2014
Edit
GEN344
EHMT1
Euchromatic histone-lysine N-methyltransferase 1
9q34.3
Syndromic
4
55
39
Talkowski ME , et al. 2012
Edit
GEN808
EIF3G
eukaryotic translation initiation factor 3 subunit G
19p13.2
Rare single gene variant
2
7
5
Iossifov I , et al. 2012
Edit
GEN077
EIF4E
eukaryotic translation initiation factor 4E
4q23
Rare single gene variant
2
9
13
Neves-Pereira M , et al. 2009
Edit
GEN479
EIF4EBP2
Eukaryotic translation initiation factor 4E binding protein 2
10q22.1
Functional
0
1
Gkogkas CG , et al. 2012
Edit
GEN1171
EIF4G1
eukaryotic translation initiation factor 4 gamma 1
3q27.1
Rare single gene variant
2
5
4
Gonatopoulos-Pournatzis T , et al. 2020
Edit
GEN1425
EIF5A
eukaryotic translation initiation factor 5A
17p13.1
Rare single gene variant
2
10
4
et al.
Edit
GEN826
ELAVL2
ELAV like neuron-specific RNA binding protein 2
9p21.3
Rare single gene variant
2
7
7
Iossifov I et al. 2014
Edit
GEN753
ELAVL3
ELAV like neuron-specific RNA binding protein 3
19p13.2
Rare single gene variant
2
5
6
Iossifov I et al. 2014
Edit
GEN1038
ELOVL2
ELOVL fatty acid elongase 2
6p24.2
Genetic association
5
2
Sun C , et al. 2018
Edit
GEN1252
ELP2
elongator acetyltransferase complex subunit 2
18q12.2
Syndromic
Yes
17
6
Cohen JS et al. 2015
Edit
GEN733
ELP4
Elongator acetyltransferase complex subunit 4
11p13
Multigenic CNV
2
19
7
Addis L , et al. 2015
Edit
GEN282
EML1
echinoderm microtubule associated protein like 1
14q32.2
Rare Single Gene variant
2
9
4
Schaaf CP , et al. 2011
Edit
GEN669
EMSY
EMSY, BRCA2 interacting transcriptional repressor
11q13.5
Rare single gene variant
3
14
5
Gupta S , et al. 2014
Edit
GEN078
EN2
engrailed homolog 2
7q36.3
Genetic Association
2
12
26
Gharani N , et al. 2004
Edit
GEN1183
ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
6q23.2
Rare single gene variant
3
10
5
Tran KT et al. 2020
Edit
GEN308
EP300
E1A binding protein p300
22q13.2
Syndromic
4
55
26
Vaags AK , et al. 2012
Edit
GEN353
EP400
E1A binding protein p400
12q24.33
Rare single gene variant
4
Yes
71
10
Chahrour MH , et al. 2012
Edit
GEN365
EPC2
Enhancer of polycomb homolog 2 (Drosophila)
2q23.1
Rare single gene variant
2
7
6
Jaillard S , et al. 2008
Edit
GEN1321
EPHA1
EPH receptor A1
7q34-q35
Rare single gene variant
3
11
8
Iossifov I et al. 2014
Edit
GEN079
EPHA6
EPH receptor A6
3q11.2
Rare Single Gene variant
2
9
9
Pinto D , et al. 2010
Edit
GEN1322
EPHB1
EPH receptor B1
3q22.2
Rare single gene variant
4
32
10
Iossifov I et al. 2014
Edit
GEN410
EPHB2
EPH receptor B2
1p36.12
Rare single gene variant
4
61
9
Sanders SJ , et al. 2012
Edit
GEN080
EPHB6
EPH receptor B6
7q34
Rare Single Gene variant
2
3
7
O'Roak BJ , et al. 2011
Edit
GEN927
EPPK1
epiplakin 1
8q24.3
Rare single gene variant
3
22
8
Lim ET , et al. 2017
Edit
GEN1270
EPS15L1
epidermal growth factor receptor pathway substrate 15 like 1
19p13.11
Rare single gene variant
2
5
3
Wilfert AB et al. 2021
Edit
GEN574
EPS8
epidermal growth factor receptor pathway substrate 8
12p12.3
Functional
0
1
Menna E , et al. 2013
Edit
GEN081
ERBB4
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
2q34
Rare Single Gene variant
2
15
18
Pinto D , et al. 2010
Edit
GEN678
ERBIN
erbb2 interacting protein
5q12.3
Rare single gene variant
3
6
9
Li J , et al. 2015
Edit
GEN404
ERG
ERG, ETS transcription factor
21q22.2
Genetic association
1
1
Anney R , et al. 2012
Edit
GEN838
ERMN
ermin
2q24.1
Rare single gene variant
3
8
1
Homs A , et al. 2016
Edit
GEN082
ESR1
estrogen receptor 1
6q25.1-q25.2
Syndromic
0
5
11
Chakrabarti B , et al. 2009
Edit
GEN083
ESR2
estrogen receptor 2 (ER beta)
14q23.2-q23.3
Syndromic
0
5
9
Chakrabarti B , et al. 2009
Edit
GEN084
ESRRB
estrogen-related receptor beta
14q24.3
Genetic Association
0
6
9
Wang K , et al. 2009
Edit
GEN658
ETFB
Electron-transfer-flavoprotein, beta polypeptide
19q13.41
Rare single gene variant
2
12
5
O'Roak BJ , et al. 2012
Edit
GEN679
EXOC3
exocyst complex component 3
5p15.33
Rare single gene variant
2
7
3
Li J , et al. 2015
Edit
GEN680
EXOC5
exocyst complex component 5
14q22.3
Rare single gene variant
2
2
2
Li J , et al. 2015
Edit
GEN681
EXOC6
exocyst complex component 6
10q23.33
Rare single gene variant
2
8
3
Li J , et al. 2015
Edit
GEN525
EXOC6B
exocyst complex component 6B
2p13.2
Rare single gene variant
2
7
5
Frhmesser A , et al. 2013
Edit
GEN361
EXT1
Exostosin 1
8q24.11
Rare single gene variant
3
8
7
Li H , et al. 2002
Edit
GEN085
F13A1
coagulation factor XIII, A1 polypeptide
6p25.1
Functional
2
7
8
Hu VW , et al. 2006
Edit
GEN620
FABP3
Fatty acid binding protein 3, muscle and heart (mammary-derived growth inhibitor)
1p35.2
Functional/rare single gene variant
0
1
2
Shimamoto C , et al. 2014
Edit
GEN1223
FABP4
fatty acid binding protein 4
8q21.13
Rare single gene variant
2
4
3
Maekawa M et al. 2020
Edit
GEN086
FABP5
fatty acid binding protein 5 (psoriasis-associated)
8q21.13
Rare Single Gene variant, Genetic Association
2
5
8
Maekawa M , et al. 2010
Edit
GEN087
FABP7
fatty acid binding protein 7, brain
6q22.31
Genetic Association
0
10
7
Maekawa M , et al. 2010
Edit
GEN428
FAM135B
family with sequence similarity 135 member B
8q24.23
Genetic association
2
7
3
Connolly JJ , et al. 2012
Edit
GEN895
FAM47A
family with sequence similarity 47 member A
Xp21.1
Rare single gene variant
2
4
1
C Yuen RK et al. 2017
Edit
GEN1099
FAM98C
family with sequence similarity 98 member C
19q13.2
Rare single gene variant
2
4
3
De Rubeis S , et al. 2014
Edit
GEN589
FAN1
FANCD2/FANCI-associated nuclease 1
15q13.3
Rare single gene variant
2
6
4
Ionita-Laza I , et al. 2013
Edit
GEN338
FAT1
FAT atypical cadherin 1
4q35.2
Rare Single Gene variant
3
25
13
Neale BM , et al. 2012
Edit
GEN754
FBN1
Fibrillin 1
15q21.1
Rare single gene variant
3
24
14
Iossifov I , et al. 2012
Edit
GEN1177
FBRSL1
fibrosin like 1
12q24.33
Syndromic
2
5
3
Ufartes R et al. 2020
Edit
GEN1410
FBXL13
F-box and leucine rich repeat protein 13
7q22.1
Rare single gene variant
2
6
2
Cirnigliaro M et al. 2023
Edit
GEN1027
FBXO11
F-box protein 11
2p16.3
Rare single gene variant
4
80
12
Krumm N , et al. 2015
Edit
GEN315
FBXO15
F-box protein 15
18q22.3
Rare Single Gene variant
2
6
5
Christian SL , et al. 2008
Edit
GEN088
FBXO33
F-box protein 33
14q21.1
Genetic Association
0
3
4
Wang K , et al. 2009
Edit
GEN089
FBXO40
F-box protein 40
3q13.33
Genetic Association
2
5
6
Glessner JT , et al. 2009
Edit
GEN946
FCRL6
Fc receptor like 6
1q23.2
Rare single gene variant
2
29
4
Sanders SJ , et al. 2012
Edit
GEN429
FER
FERtyrosine kinase
5q21.3
Genetic association
0
3
2
Connolly JJ , et al. 2012
Edit
GEN090
FEZF2
FEZ family zinc finger 2
3p14.2
Genetic Association
2
5
9
Wang K , et al. 2009
Edit
GEN585
FGA
Fibrinogen alpha chain
4q31.3
Genetic association
0
7
5
Ro M , et al. 2013
Edit
GEN287
FGD1
FYVE, RhoGEF and PH domain containing 1
Xp11.22
Rare Single Gene variant
0
6
5
Orrico A , et al. 2005
Edit
GEN1237
FGF13
fibroblast growth factor 13
Xq26.3
Syndromic
2
6
2
Fry AE et al. 2021
Edit
GEN1199
FGF14
fibroblast growth factor 14
13q33.1
Rare single gene variant
0
8
2
Trost B et al. 2020
Edit
GEN299
FGFBP3
fibroblast growth factor binding protein 3
10q23.32
Rare Single Gene variant
1
1
Salyakina D , et al. 2011
Edit
GEN1205
FGFR1
fibroblast growth factor receptor 1
8p11.23
Genetic association
1
1
Matoba N et al. 2020
Edit
GEN1030
FGFR2
fibroblast growth factor receptor 2
10q26.13
Functional
3
9
8
Szczurkowska J , et al. 2018
Edit
GEN091
FHIT
fragile histidine triad gene
3p14.2
Genetic Association
0
19
12
Sebat J , et al. 2007
Edit
GEN1402
FLNA
filamin A
Xq28
Multigenic CNV/Functional
2
8
9
Miyake N et al. 2023
Edit
GEN1271
FLNC
filamin C
7q32.1
Rare single gene variant
3
8
3
Wilfert AB et al. 2021
Edit
GEN092
FLT1
fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular perme ability factor receptor)
13q12.3
Functional
2
5
6
Hu VW , et al. 2006
Edit
GEN093
FMR1
fragile X mental retardation 1
Xq27.3
Functional
3
50
66
Rogers SJ , et al. 2002
Edit
GEN413
FOLH1
folate hydrolase 1
11p11.12
Functional
0
2
Han L , et al. 2009
Edit
GEN094
FOXG1
Forkhead box G1
14q12
Syndromic
3
85
55
Kortm F , et al. 2011
Edit
GEN095
FOXP1
forkhead box P1
3p13
Rare Single Gene variant
5
191
71
O'Roak BJ , et al. 2011
Edit
GEN096
FOXP2
forkhead box P2
7q31.1
Rare single gene variant
3
95
56
Gong X , et al. 2004
Edit
GEN1234
FRG1
FSHD region gene 1
4q35.2
Rare single gene variant
2
3
2
Alonso-Gonzalez A et al. 2021
Edit
GEN097
FRK
fyn-related kinase
6q22.1
Genetic Association
2
3
3
Wang K , et al. 2009
Edit
GEN098
FRMPD4
FERM and PDZ domain containing 4
Xp22.2
Rare Single Gene variant
2
9
8
Piton A , et al. 2010
Edit
GEN1198
FXN
frataxin
9q21.11
Rare single gene variant
2
9
2
Trost B et al. 2020
Edit
GEN1361
G3BP2
G3BP stress granule assembly factor 2
4q21.1
Rare single gene variant
3
8
6
Iossifov I et al. 2014
Edit
GEN1272
GAB2
GRB2 associated binding protein 2
11q14.1
Rare single gene variant
2
5
2
Wilfert AB et al. 2021
Edit
GEN1264
GABBR1
gamma-aminobutyric acid type B receptor subunit 1
6p22.1
Functional
3
8
10
Satterstrom FK et al. 2020
Edit
GEN1010
GABBR2
gamma-aminobutyric acid type B receptor subunit 2
9q22.33
Functional
4
19
14
EuroEPINOMICS-RES Consortium , et al. 2014
Edit
GEN624
GABRA1
Gamma-aminobutyric acid (GABA) A receptor, alpha 1
5q34
Functional
3
11
12
Fatemi SH , et al. 2008
Edit
GEN481
GABRA3
Gamma-aminobutyric acid (GABA) A receptor, alpha 3
Xq28
Rare Single Gene variant
0
9
3
Piton A , et al. 2012
Edit
GEN099
GABRA4
gamma-aminobutyric acid (GABA) A receptor, alpha 4
4p12
Genetic Association
2
11
9
Ma DQ , et al. 2005
Edit
GEN827
GABRA5
gamma-aminobutyric acid type A receptor alpha5 subunit
15q12
Genetic association
2
6
11
Fatemi SH , et al. 2010
Edit
GEN100
GABRB1
gamma-aminobutyric acid (GABA) A receptor, beta 1
4p12
Genetic Association
2
9
9
Ma DQ , et al. 2005
Edit
GEN1166
GABRB2
gamma-aminobutyric acid type A receptor subunit beta2
5q34
Rare single gene variant
2
6
5
Iossifov I et al. 2014
Edit
GEN101
GABRB3
gamma-aminobutyric acid (GABA) A receptor, beta 3
15q12
Genetic Association
4
Yes
147
50
Cook EH Jr , et al. 1998
Edit
GEN1401
GABRG2
gamma-aminobutyric acid type A receptor subunit gamma 2
5q34
Genetic association
3
24
9
Miyake N et al. 2023
Edit
GEN1032
GABRG3
gamma-aminobutyric acid type A receptor gamma3 subunit
15q12
Genetic association
3
21
13
Menold MM , et al. 2002
Edit
GEN480
GABRQ
Gamma-aminobutyric acid (GABA) A receptor, theta
Xq28
Rare Single Gene variant
2
4
4
Piton A , et al. 2012
Edit
GEN606
GAD1
Glutamate decarboxylase 1 (brain, 67kDa)
2q31.1
Functional
2
4
7
Yip J , et al. 2007
Edit
GEN742
GADD45B
Growth arrest and DNA-damage-inducible, beta
19p13.3
Functional
2
2
5
Garbett K , et al. 2008
Edit
GEN1194
GALNT10
polypeptide N-acetylgalactosaminyltransferase 10
5q33.2
Genetic association
2
9
7
Wu Y et al. 2020
Edit
GEN102
GALNT13
polypeptide N-acetylgalactosaminyltransferase 13
2q23.3-q24.1
Rare Single Gene variant
2
7
5
Bucan M , et al. 2009
Edit
GEN396
GALNT14
polypeptide N-acetylgalactosaminyltransferase 14
2p23.1
Genetic association
2
11
7
Anney R , et al. 2012
Edit
GEN1174
GALNT2
polypeptide N-acetylgalactosaminyltransferase 2
1q42.13
Syndromic
2
9
5
Zilmer M et al. 2020
Edit
GEN1042
GALNT8
polypeptide N-acetylgalactosaminyltransferase 8
12p13.32
Rare single gene variant
2
10
3
Kushima I , et al. 2018
Edit
GEN383
GAN
Gigaxonin
16q23.2
Rare single gene variant
2
3
3
Van der Aa N , et al. 2012
Edit
GEN414
GAP43
Growth associated protein 43
3q13.31
Functional
2
1
2
Zaccaria KJ , et al. 2010
Edit
GEN373
GAS2
Growth arrest-specific 2
11p14.3
Genetic association
2
1
Weiss LA , et al. 2009
Edit
GEN617
GATM
Glycine amidinotransferase (L-arginine:glycine amidinotransferase)
15q21.1
Syndromic
27
2
Mercimek-Mahmutoglu S , et al. 2006
Edit
GEN1288
GBE1
1,4-alpha-glucan branching enzyme 1
3p12.2
Rare single gene variant
2
9
4
Fanjul-Fernández M et al. 2021
Edit
GEN682
GDA
guanine deaminase
9q21.13
Rare single gene variant
0
3
3
Li J , et al. 2015
Edit
GEN1158
GFAP
glial fibrillary acidic protein
17q21.31
Rare single gene variant
2
3
1
Satterstrom FK et al. 2020
Edit
GEN997
GGNBP2
gametogenetin binding protein 2
17q12
Rare single gene variant
3
4
3
De Rubeis S , et al. 2014
Edit
GEN646
GIGYF1
GRB10 interacting GYF protein 1
7q22.1
Rare single gene variant
4
98
20
Iossifov I et al. 2014
Edit
GEN721
GIGYF2
GRB10 interacting GYF protein 2
2q37.1
Rare single gene variant
3
26
9
De Rubeis S , et al. 2014
Edit
GEN1273
GLG1
golgi glycoprotein 1
16q23.1
Rare single gene variant
2
5
2
Wilfert AB et al. 2021
Edit
GEN781
GLIS1
GLIS family zinc finger 1
1p32.3
Genetic association
0
4
3
Kuo PH , et al. 2015
Edit
GEN103
GLO1
glyoxalase I
6p21.2
Genetic Association
2
7
10
Junaid MA , et al. 2004
Edit
GEN104
GLRA2
glycine receptor, alpha 2
Xp22.2
Rare Single Gene variant
3
21
17
Piton A , et al. 2010
Edit
GEN347
GNA14
Guanine nucleotide binding protein (G protein), alpha 14
9q21.2
Rare Single Gene variant
0
2
2
Talkowski ME , et al. 2012
Edit
GEN1154
GNAI1
G protein subunit alpha i1
7q21.11
Rare single gene variant
3
30
5
De Rubeis S , et al. 2014
Edit
GEN105
GNAS
GNAS complex locus
20q13.32
Rare Single Gene variant, Genetic Association
2
14
9
Kim SJ , et al. 2000
Edit
GEN304
GNB1L
guanine nucleotide binding protein (G protein), beta polypeptide 1-like
22q11.21
Rare Single Gene variant
2
8
3
Chen YZ , et al. 2011
Edit
GEN1286
GNB2
G protein subunit beta 2
7q22.1
Rare single gene variant
2
18
6
Tan NB et al. 2021
Edit
GEN849
GPC4
glypican 4
Xq26.2
Rare single gene variant
Yes
2
2
Doan RN , et al. 2016
Edit
GEN1323
GPC5
glypican 5
13q31.3
Rare single gene variant
4
31
9
Iossifov I et al. 2014
Edit
GEN106
GPC6
glypican 6
13q31.3-q32.1
Rare Single Gene variant
14
8
Pinto D , et al. 2010
Edit
GEN535
GPD2
glycerol-3-phosphate dehydrogenase 2
2q24.1
Rare single gene variant
2
Yes
6
5
Barge-Schaapveld DQ , et al. 2013
Edit
GEN505
GPHN
Gephyrin
14q23.3
Rare single gene variant
2
18
10
Prasad A , et al. 2013
Edit
GEN107
GPR139
G protein-coupled receptor 139
16p12.3
Rare Single Gene variant
2
2
6
O'Roak BJ , et al. 2011
Edit
GEN489
GPR37
G protein-coupled receptor 37
7q31.33
Rare single gene variant
3
12
3
Fujita-Jimbo E , et al. 2012
Edit
GEN709
GPR85
G protein-coupled receptor 85
7q31.1
Genetic association, functional
2
5
5
Fujita-Jimbo E , et al. 2015
Edit
GEN1083
GPRASP2
G protein-coupled receptor associated sorting protein 2
Xq22.1
Rare single gene variant
0
2
3
Edfawy M , et al. 2019
Edit
GEN108
GPX1
glutathione peroxidase 1
3p21.31
Genetic Association
2
2
6
Ming X , et al. 2009
Edit
GEN1344
GRB10
growth factor receptor bound protein 10
7p12.1
Functional
3
23
11
Kim IB et al. 2022
Edit
GEN915
GRIA1
glutamate ionotropic receptor AMPA type subunit 1
5q33.2
Rare single gene variant
4
21
12
De Rubeis S , et al. 2014
Edit
GEN1093
GRIA2
glutamate ionotropic receptor AMPA type subunit 2
4q32.1
Rare single gene variant
4
43
12
De Rubeis S , et al. 2014
Edit
GEN1295
GRIA3
glutamate ionotropic receptor AMPA type subunit 3
Xq25
Syndromic
2
23
15
Wu Y et al. 2007
Edit
GEN415
GRID1
Glutamate receptor, ionotropic, delta 1
10q23.1-q23.2
Genetic association
2
7
7
Glessner JT , et al. 2009
Edit
GEN283
GRID2
glutamate receptor, ionotropic, delta 2
4q22.1-q22.2
Rare Single Gene variant
2
25
11
Schaaf CP , et al. 2011
Edit
GEN683
GRID2IP
Grid2 interacting protein
7p22.1
Rare single gene variant
2
7
5
Li J , et al. 2015
Edit
GEN109
GRIK2
glutamate ionotropic receptor kainate type subunit 2
6q16.3
Genetic Association
3
38
22
Jamain S , et al. 2002
Edit
GEN684
GRIK3
glutamate ionotropic receptor kainate type subunit 3
1p34.3
Genetic association
2
5
7
Li J , et al. 2015
Edit
GEN775
GRIK4
Glutamate receptor, ionotropic, kainate 4
11q23.3
Rare single gene variant
2
9
7
Aller MI , et al. 2015
Edit
GEN722
GRIK5
Glutamate receptor, ionotropic, kainate 5
19q13.2
Rare single gene variant
3
11
10
De Rubeis S , et al. 2014
Edit
GEN626
GRIN1
Glutamate receptor, ionotropic, N-methyl D-aspartate 1
9q34.3
Functional
3
Yes
79
25
Gandal MJ , et al. 2012
Edit
GEN110
GRIN2A
glutamate receptor, ionotropic, N-methyl D-aspartate 2A
16p13.2
Genetic Association
4
211
59
Barnby G , et al. 2005
Edit
GEN111
GRIN2B
glutamate receptor, inotropic, N-methyl D-apartate 2B
12p13.1
Genetic Association
5
241
84
O'Roak BJ , et al. 2011
Edit
GEN112
GRIP1
glutamate receptor interacting protein 1
12q14.3
Rare Single Gene variant, Genetic Association
3
14
14
Mejias R , et al. 2011
Edit
GEN1324
GRK4
G protein-coupled receptor kinase 4
4p16.3
Rare single gene variant
3
5
6
Iossifov I et al. 2014
Edit
GEN593
GRM1
glutamate metabotropic receptor 1
6q24.3
Rare single gene variant
2
9
9
Waltes R , et al. 2014
Edit
GEN559
GRM4
Glutamate receptor, metabotropic 4
6p21.31
Functional
0
1
Iscru E , et al. 2013
Edit
GEN355
GRM5
glutamate metabotropic receptor 5
11q14.2-q14.3
Rare single gene variant
3
25
11
Iossifov I , et al. 2012
Edit
GEN716
GRM7
Glutamate receptor, metabotropic 7
3p26.1
Genetic association
2
25
18
Yang Y and Pan C 2012
Edit
GEN113
GRM8
glutamate receptor, metabotropic 8
7q31.33
Genetic Association
2
14
11
Serajee FJ , et al. 2003
Edit
GEN114
GRPR
Gastrin-releasing peptide receptor
Xp22.2
Genetic Association
2
6
8
Ishikawa-Brush Y , et al. 1997
Edit
GEN416
GSK3B
Glycogen synthase kinase 3 beta
3q13.33
Functional
3
3
5
Mines MA , et al. 2010
Edit
GEN387
GSN
gelsolin
9q33.2
Rare single gene variant
2
5
3
Awadalla P , et al. 2010
Edit
GEN115
GSTM1
glutathione S-transferase M1
1p13.3
Genetic Association
1
3
Buyske S , et al. 2006
Edit
GEN116
GTF2I
general transcription factor IIi
7q11.23
Rare Single Gene variant
2
5
10
Malenfant P , et al. 2011
Edit
GEN400
GUCY1A2
guanylate cyclase 1 soluble subunit alpha 2
11q22.3
Genetic association
2
3
3
Anney R , et al. 2012
Edit
GEN1301
HACE1
HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1
6q16.3
Rare single gene variant
3
17
12
Iossifov I et al. 2014
Edit
GEN430
HCFC1
host cell factor C1
Xq28
Syndromic
2
23
12
Huang L , et al. 2012
Edit
GEN611
HCN1
Hyperpolarization activated cyclic nucleotide-gated potassium channel 1
5p12
Rare single gene variant
3
53
14
Nava C , et al. 2014
Edit
GEN843
HDAC3
histone deacetylase 3
5q31.3
Rare single gene variant
2
3
6
Nott A , et al. 2016
Edit
GEN117
HDAC4
histone deacetylase 4
2q37.3
Syndromic
3
19
18
Williams SR , et al. 2010
Edit
GEN482
HDAC6
histone deacetylase 6
Xp11.23
Rare Single Gene variant
2
2
7
Piton A , et al. 2012
Edit
GEN1024
HDAC8
histone deacetylase 8
Xq13.1
Syndromic
2
6
11
Deardorff MA , et al. 2012
Edit
GEN1280
HDAC9
histone deacetylase 9
7p21.1
Rare single gene variant
3
8
6
Wilfert AB et al. 2021
Edit
GEN881
HDC
histidine decarboxylase
15q21.2
Functional
2
3
9
Castellan Baldan L , et al. 2014
Edit
GEN1004
HDLBP
high density lipoprotein binding protein
2q37.3
Multigenic CNV
3
8
6
O'Roak BJ , et al. 2012
Edit
GEN900
HECTD4
HECT domain E3 ubiquitin protein ligase 4
12q24.13
Rare single gene variant
4
27
10
De Rubeis S , et al. 2014
Edit
GEN737
HECW2
HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2
2q32.3
Rare single gene variant
3
50
18
Krumm N , et al. 2015
Edit
GEN118
HEPACAM
hepatic and glial cell adhesion molecule
11q24.2
Syndromic
2
33
11
Lpez-Hernndez T , et al. 2011
Edit
GEN1294
HERC1
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
15q22.31
Rare single gene variant
4
18
14
Hashimoto R , et al. 2015
Edit
GEN431
HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
15q13.1
Rare single gene variant
3
Yes
19
10
Puffenberger EG , et al. 2012
Edit
GEN1135
HIVEP2
HIVEP zinc finger 2
6q24.2
Functional
3
23
13
Steinfeld H , et al. 2016
Edit
GEN870
HIVEP3
human immunodeficiency virus type I enhancer binding protein 3
1p34.2
Rare single gene variant
3
9
9
Iossifov I et al. 2014
Edit
GEN119
HLA-A
major histocompatibility complex, class I, A
6p22.1
Genetic Association
7
10
Torres AR , et al. 2006
Edit
GEN795
HLA-B
Major histocompatibility complex, class I, B
6p21.33
Genetic association
7
5
Al-Hakbany M , et al. 2014
Edit
GEN1086
HLA-DPB1
major histocompatibility complex, class II, DP beta 1
6p21.32
Genetic association
2
3
2
Nudel R , et al. 2019
Edit
GEN120
HLA-DRB1
major histocompatibility complex, class II, DR beta 1
6p21.32
Genetic association
9
11
Warren RP , et al. 1996
Edit
GEN973
HLA-G
major histocompatibility complex, class I, G
6p22.1
Genetic association
3
4
Guerini FR , et al. 2014
Edit
GEN303
HMGN1
high mobility group nucleosome binding domain 1
21q22.2
Genetic Association
11
1
Abuhatzira L , et al. 2011
Edit
GEN1245
HNRNPD
heterogeneous nuclear ribonucleoprotein D
4q21.22
Rare single gene variant
4
15
5
Iossifov I et al. 2014
Edit
GEN1246
HNRNPF
heterogeneous nuclear ribonucleoprotein F
10q11.21
Rare single gene variant
2
4
4
Iossifov I et al. 2014
Edit
GEN121
HNRNPH2
heterogeneous nuclear ribonucleoprotein H2
Xq22.1
Rare Single Gene variant
4
69
19
Piton A , et al. 2010
Edit
GEN1247
HNRNPK
heterogeneous nuclear ribonucleoprotein K
9q21.32
Syndromic
3
32
11
Gillentine MA et al. 2021
Edit
GEN926
HNRNPU
heterogeneous nuclear ribonucleoprotein U
1q44
Rare single gene variant
4
129
39
Lim ET , et al. 2017
Edit
GEN1249
HNRNPUL2
heterogeneous nuclear ribonucleoprotein U like 2
11q12.3
Rare single gene variant
3
20
4
Gillentine MA et al. 2021
Edit
GEN356
HOMER1
Homer homolog 1 (Drosophila)
5q14.1
Rare single gene variant
3
8
6
Kelleher RJ 3rd , et al. 2012
Edit
GEN122
HOXA1
homeobox A1
7p15.2
Genetic Association
3
22
16
Ingram JL , et al. 2000
Edit
GEN123
HOXB1
homeobox B1
17q21.32
Genetic Association
0
1
9
Ingram JL , et al. 2000
Edit
GEN124
HRAS
v-Ha-ras Harvey rat sarcoma viral oncogene homolog
11p15.5
Rare Single Gene variant
2
18
12
Hrault J , et al. 1993
Edit
GEN125
HS3ST5
heparan sulfate (glucosamine) 3-O-sulfotransferase 5
6q21-q22.1
Genetic Association
2
5
8
Wang K , et al. 2009
Edit
GEN126
HSD11B1
hydroxysteroid (11-beta) dehydrogenase 1
1q32.2
Syndromic
0
2
9
Chakrabarti B , et al. 2009
Edit
GEN127
HTR1B
5-hydroxytryptamine (serotonin) receptor 1B
6q14.1
Genetic Association
0
2
6
Orabona GM , et al. 2008
Edit
GEN128
HTR2A
5-hydroxytryptamine (serotonin) receptor 2A
13q14.2
Genetic Association
2
13
11
Veenstra-VanderWeele J , et al. 2002
Edit
GEN129
HTR3A
5-hydroxytryptamine (serotonin) receptor 3A
11q23.2
Functional
2
9
9
Anderson BM , et al. 2009
Edit
GEN130
HTR3C
5-hydroxytryptamine (serotonin) receptor 3, family member C
3q27.1
Genetic Association
2
10
8
Rehnstrm K , et al. 2008
Edit
GEN131
HTR7
5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)
10q23.31
Genetic Association
2
6
5
Lassig JP , et al. 1999
Edit
GEN432
HUWE1
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
Xp11.22
Syndromic
4
52
26
Nava C , et al. 2012
Edit
GEN514
HYDIN
HYDIN, axonemal central pair apparatus protein
16q22.2
Multigenic CNV
2
12
5
Girirajan S , et al. 2013
Edit
GEN296
ICA1
islet cell autoantigen 1
7p21.3
Rare single gene variant
2
15
10
Salyakina D , et al. 2011
Edit
GEN840
IFNG
interferon gamma
12q15
Functional
0
13
Singh VK 1996
Edit
GEN841
IFNGR1
interferon gamma receptor 1
6q23.3
Functional
0
1
Filiano AJ , et al. 2016
Edit
GEN1182
IGF1
insulin like growth factor 1
12q23.2
Functional
3
20
8
Tran KT et al. 2020
Edit
GEN1345
IKZF1
IKAROS family zinc finger 1
7p12.2
Rare single gene variant
3
9
6
De Rubeis S , et al. 2014
Edit
GEN685
IL16
interleukin 16
15q25.1
Rare single gene variant
2
6
3
Li J , et al. 2015
Edit
GEN974
IL17RA
interleukin 17 receptor A
22q11.1
Rare single gene variant
2
5
6
Choi GB , et al. 2016
Edit
GEN132
IL1R2
interleukin 1 receptor, type II
2q11.2
Rare Single Gene variant
2
5
8
O'Roak BJ , et al. 2011
Edit
GEN133
IL1RAPL1
interleukin 1 receptor accessory protein-like 1
Xp21.3-p21.2
Rare single gene variant
3
33
27
Bhat SS , et al. 2007
Edit
GEN302
IL1RAPL2
interleukin 1 receptor accessory protein-like 2
Xq22.3
Genetic Association
4
2
Chung RH , et al. 2011
Edit
GEN804
IL6
interleukin 6
7p15.3
Functional
0
6
Smith SE , et al. 2007
Edit
GEN759
ILF2
Interleukin enhancer binding factor 2
1q21.3
Rare single gene variant
3
6
6
Sanders SJ , et al. 2015
Edit
GEN134
IMMP2L
IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
7q31.1
Rare single gene variant
2
31
17
Petek E , et al. 2001
Edit
GEN135
INPP1
inositol polyphosphate-1-phosphatase
2q32.2
Genetic Association
2
4
5
Serajee FJ , et al. 2003
Edit
GEN1056
INTS1
integrator complex subunit 1
7p22.3
Syndromic
3
Yes
27
9
Krall M , et al. 2019
Edit
GEN755
INTS6
Integrator complex subunit 6
13q14.3
Rare single gene variant
3
4
6
Iossifov I et al. 2014
Edit
GEN874
IQGAP3
IQ motif containing GTPase activating protein 3
1q22
Rare single gene variant
3
12
6
Stessman HA , et al. 2017
Edit
GEN542
IQSEC2
IQ motif and Sec7 domain 2
Xp11.22
Syndromic
5
157
50
Shoubridge C , et al. 2010
Edit
GEN763
IRF2BPL
Interferon regulatory factor 2 binding protein-like
14q24.3
Rare single gene variant
4
34
14
Sanders SJ , et al. 2015
Edit
GEN136
ITGA4
integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
2q31.3
Genetic Association
2
11
7
Ramoz N , et al. 2008
Edit
GEN1325
ITGA8
integrin subunit alpha 8
10p13
Rare single gene variant
3
15
7
Iossifov I et al. 2014
Edit
GEN137
ITGB3
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
17q21.32
Genetic association
2
16
22
Weiss LA , et al. 2006
Edit
GEN138
ITGB7
integrin, beta 7
12q13.13
Functional
2
4
5
Hu VW , et al. 2006
Edit
GEN880
ITPR1
inositol 1,4,5-trisphosphate receptor type 1
3p26.1
Rare single gene variant
3
25
16
De Rubeis S , et al. 2014
Edit
GEN1119
ITSN1
intersectin 1
21q22.11
Rare single gene variant
4
44
9
De Rubeis S , et al. 2014
Edit
GEN790
JAKMIP1
Janus kinase and microtubule interacting protein 1
4p16.1
Functional
2
9
10
Berg JM , et al. 2015
Edit
GEN374
JARID2
jumonji and AT-rich interaction domain containing 2
6p22.3
Genetic association
3
38
18
Weiss LA , et al. 2009
Edit
GEN139
JMJD1C
jumonji domain containing 1C
10q21.3
Rare single gene variant
3
22
10
Castermans D , et al. 2007
Edit
GEN1274
JMY
junction mediating and regulatory protein, p53 cofactor
5q14.1
Rare single gene variant
2
5
2
Wilfert AB et al. 2021
Edit
GEN530
KANK1
KN motif and ankyrin repeat domains 1
9p24.3
Rare single gene variant
2
19
12
Vanzo RJ , et al. 2013
Edit
GEN1136
KANSL1
KAT8 regulatory NSL complex subunit 1
17q21.31
Rare single gene variant
3
31
11
Koolen DA , et al. 2015
Edit
GEN764
KAT2B
K(lysine) acetyltransferase 2B
3p24.3
Rare single gene variant
3
8
8
Sanders SJ , et al. 2015
Edit
GEN747
KAT6A
K(lysine) acetyltransferase 6A
8p11.21
Rare single gene variant
4
163
30
Iossifov I et al. 2014
Edit
GEN1231
KAT6B
lysine acetyltransferase 6B
10q22.2
Rare single gene variant
3
66
8
Wang T et al. 2020
Edit
GEN904
KATNAL1
katanin catalytic subunit A1 like 1
13q12.3
Rare single gene variant
2
3
4
C Yuen RK et al. 2017
Edit
GEN369
KATNAL2
Katanin p60 subunit A-like 2
18q21.1
Rare Single Gene variant
3
55
15
Sanders SJ , et al. 2012
Edit
GEN1290
KCNA2
potassium voltage-gated channel subfamily A member 2
1p13.3
Rare single gene variant
3
23
11
Qaiser F et al. 2021
Edit
GEN1420
KCNA3
potassium voltage-gated channel subfamily A member 3
1p13.3
Rare single gene variant
3
15
2
et al.
Edit
GEN938
KCNB1
potassium voltage-gated channel subfamily B member 1
20q13.13
Rare single gene variant
4
117
25
de Kovel CGF , et al. 2017
Edit
GEN1074
KCNC1
potassium voltage-gated channel subfamily C member 1
11p15.1
Rare single gene variant
2
7
9
Iossifov I et al. 2014
Edit
GEN1314
KCNC2
potassium voltage-gated channel subfamily C member 2
12q21.1
Rare single gene variant
3
41
12
Satterstrom FK et al. 2020
Edit
GEN433
KCND2
potassium voltage-gated channel subfamily D member 2
7q31.31
Rare single gene variant
3
19
9
Connolly JJ , et al. 2012
Edit
GEN999
KCND3
potassium voltage-gated channel subfamily D member 3
1p13.2
Genetic association
2
6
13
Iossifov I et al. 2014
Edit
GEN1392
KCNH5
potassium voltage-gated channel subfamily H member 5
14q23.2
Rare single gene variant
2
4
5
Veeramah KR , et al. 2013
Edit
GEN140
KCNJ10
potassium voltage-gated channel subfamily J member 10
1q23.2
Genetic Association
3
16
12
Sicca F , et al. 2011
Edit
GEN686
KCNJ12
potassium voltage-gated channel subfamily J member 12
17p11.2
Rare single gene variant
0
4
2
Li J , et al. 2015
Edit
GEN687
KCNJ15
potassium voltage-gated channel subfamily J member 15
21q22.13-q22.2
Rare single gene variant
2
3
3
Li J , et al. 2015
Edit
GEN614
KCNJ2
Potassium inwardly-rectifying channel, subfamily J, member 2
17q24.3
Rare Single Gene variant
3
4
4
Ambrosini E , et al. 2014
Edit
GEN967
KCNK7
potassium two pore domain channel subfamily K member 7
11q13.1
Rare single gene variant
2
6
3
Li J , et al. 2017
Edit
GEN141
KCNMA1
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
10q22.3
Rare single gene variant
4
39
31
Laumonnier F , et al. 2006
Edit
GEN553
KCNQ2
potassium voltage-gated channel subfamily Q member 2
20q13.33
Genetic association
4
122
52
Jiang YH , et al. 2013
Edit
GEN536
KCNQ3
potassium voltage-gated channel subfamily Q member 3
8q24.22
Genetic association
4
54
20
Gilling M , et al. 2013
Edit
GEN1058
KCNS3
potassium voltage-gated channel modifier subfamily S member 3
2p24.2
Rare single gene variant
2
5
6
De Rubeis S , et al. 2014
Edit
GEN434
KCNT1
potassium sodium-activated channel subfamily T member 1
9q34.3
Rare single gene variant
2
40
20
Heron SE , et al. 2012
Edit
GEN363
KCTD13
Potassium channel tetramerisation domain containing 13
16p11.2
Rare single gene variant
0
4
9
Golzio C , et al. 2012
Edit
GEN1124
KDM1B
lysine demethylase 1B
6p22.3
Rare single gene variant
2
4
3
De Rubeis S , et al. 2014
Edit
GEN1326
KDM2A
lysine demethylase 2A
11q13.2
Rare single gene variant
4
23
8
Iossifov I et al. 2014
Edit
GEN1364
KDM2B
lysine demethylase 2B
12q24.31
Syndromic
3
28
10
Iossifov I et al. 2014
Edit
GEN1386
KDM3A
lysine demethylase 3A
2p11.2
Rare single gene variant
3
18
4
De Rubeis S , et al. 2014
Edit
GEN1137
KDM3B
lysine demethylase 3B
5q31.2
Syndromic
3
21
4
Diets IJ , et al. 2019
Edit
GEN819
KDM4B
lysine demethylase 4B
19p13.3
Rare single gene variant
3
25
6
De Rubeis S , et al. 2014
Edit
GEN1043
KDM4C
lysine demethylase 4C
9p24.1
Rare single gene variant
2
14
4
Kushima I , et al. 2018
Edit
GEN1232
KDM5A
lysine demethylase 5A
12p13.33
Rare single gene variant/Functional
2
Yes
10
5
El Hayek L et al. 2020
Edit
GEN647
KDM5B
Lysine (K)-specific demethylase 5B
1q32.1
Rare single gene variant
4
80
24
Iossifov I et al. 2014
Edit
GEN435
KDM5C
lysine demethylase 5C
Xp11.22
Syndromic
3
57
38
Adegbola A , et al. 2008
Edit
GEN896
KDM6A
lysine demethylase 6A
Xp11.3
Syndromic
3
18
14
C Yuen RK et al. 2017
Edit
GEN648
KDM6B
Lysine (K)-specific demethylase 6B
17p13.1
Rare single gene variant
5
131
21
Iossifov I , et al. 2012
Edit
GEN294
KHDRBS2
KH domain containing, RNA binding, signal transduction associated 2
6q11.1
Rare Single Gene variant
2
6
4
Salyakina D , et al. 2011
Edit
GEN834
KHDRBS3
KH RNA binding domain containing, signal transduction associated 3
8q24.23
Functional
0
2
Traunmller L , et al. 2014
Edit
GEN1156
KIAA0232
KIAA0232
4p16.1
Rare single gene variant
3
5
4
Iossifov I et al. 2014
Edit
GEN142
KIAA1586
KIAA1586
6p12.1
Rare Single Gene variant
2
20
6
Bucan M , et al. 2009
Edit
GEN688
KIF13B
Kinesin family member 13B
8p12
Rare single gene variant
2
9
4
Li J , et al. 2015
Edit
GEN1044
KIF14
kinesin family member 14
1q32.1
Rare single gene variant
2
9
6
Krumm N , et al. 2015
Edit
GEN1243
KIF1A
kinesin family member 1A
2q37.3
Rare single gene variant
3
20
14
Tomaselli PJ et al. 2017
Edit
GEN1018
KIF21B
kinesin family member 21B
1q32.1
Functional
2
6
7
Gromova KV , et al. 2018
Edit
GEN389
KIF5C
Kinesin family member 5C
2q23.1-q23.2
Rare single gene variant
3
36
14
Awadalla P , et al. 2010
Edit
GEN789
KIRREL3
Kin of IRRE like 3 (Drosophila)
11q24.2
Rare single gene variant
3
33
19
Talkowski ME , et al. 2012
Edit
GEN522
KIT
KIT proto-oncogene receptor tyrosine kinase
4q12
Syndromic
0
2
2
Kilsby AJ , et al. 2013
Edit
GEN1240
KIZ
kizuna centrosomal protein
20p11.23
Genetic association
1
2
Grove J , et al. 2019
Edit
GEN388
KLC2
Kinesin light chain 2
11q13.2
Rare single gene variant
2
4
3
Awadalla P , et al. 2010
Edit
GEN920
KLF16
Kruppel like factor 16
19p13.3
Rare single gene variant
2
2
1
Lim ET , et al. 2017
Edit
GEN1311
KLF7
Kruppel like factor 7
2q33.3
Multigenic CNV
3
18
14
Powis Z et al. 2018
Edit
GEN1363
KLHL20
kelch like family member 20
1q25.1
Functional
2
15
4
Satterstrom FK et al. 2020
Edit
GEN571
KMO
kynurenine 3-monooxygenase
1q43
Functional
2
2
3
McFarlane HG , et al. 2007
Edit
GEN700
KMT2A
Lysine (K)-specific methyltransferase 2A
11q23.3
Syndromic
5
213
48
De Rubeis S , et al. 2014
Edit
GEN659
KMT2C
Lysine (K)-specific methyltransferase 2C
7q36.1
Rare single gene variant
5
89
35
O'Roak BJ , et al. 2012
Edit
GEN636
KMT2E
Lysine (K)-specific methyltransferase 2E
7q22.3
Rare single gene variant
4
92
18
Dong S , et al. 2014
Edit
GEN336
KMT5B
lysine methyltransferase 5B
11q13.2
Rare Single Gene variant
5
97
26
Sanders SJ , et al. 2012
Edit
GEN1210
KNG1
kininogen 1
3q27.3
Rare single gene variant
2
2
2
Luo Y et al. 2020
Edit
GEN586
KPTN
kaptin, actin binding protein
19q13.32
Syndromic
2
18
9
Baple EL , et al. 2013
Edit
GEN779
KRR1
KRR1, small subunit (SSU) processome component, homolog (yeast)
12q21.2
Genetic association
2
5
3
Kuo PH , et al. 2015
Edit
GEN956
KRT26
keratin 26
17q21.2
Rare single gene variant
3
40
4
Krumm N , et al. 2015
Edit
GEN403
LAMA1
Laminin, alpha 1
18p11.31
Genetic association
3
17
11
Anney R , et al. 2012
Edit
GEN143
LAMB1
laminin, beta 1
7q31.1
Genetic Association
3
21
11
Hutcheson HB , et al. 2004
Edit
GEN144
LAMC3
laminin, gamma 3
9q34.12
Rare Single Gene variant
3
28
12
O'Roak BJ , et al. 2011
Edit
GEN1185
LAS1L
LAS1 like ribosome biogenesis factor
Xq12
Syndromic
0
4
5
Tran KT et al. 2020
Edit
GEN979
LAT
linker for activation of T-cells
16p11.2
Functional
0
2
Loviglio MN , et al. 2017
Edit
GEN1155
LDB1
LIM domain binding 1
10q24.32
Rare single gene variant
3
3
3
De Rubeis S , et al. 2014
Edit
GEN1208
LDLR
low density lipoprotein receptor
19p13.2
Rare single gene variant
2
8
3
Luo Y et al. 2020
Edit
GEN1352
LEMD3
LEM domain containing 3
12q14.3
Rare single gene variant
2
3
3
Zhou X et al. 2022
Edit
GEN1013
LEO1
LEO1 homolog, Paf1/RNA polymerase II complex component
15q21.2
Rare single gene variant
3
23
4
De Rubeis S , et al. 2014
Edit
GEN496
LEP
Leptin
7q32.1
Rare single gene variant
2
1
Prasad A , et al. 2013
Edit
GEN1399
LHX2
LIM homeobox 2
9q33.3
Rare single gene variant
3
19
4
Schmid CM et al. 2023
Edit
GEN968
LILRB2
leukocyte immunoglobulin like receptor B2
19q13.42
Rare single gene variant
2
8
3
Krumm N , et al. 2015
Edit
GEN632
LIN7B
lin-7 homolog B, crumbs cell polarity complex component
19q13.33
Multigenic CNV/rare single gene variant
2
3
3
Mizuno M , et al. 2014
Edit
GEN1357
LMTK3
lemur tyrosine kinase 3
19q13.33
Functional
3
8
6
Zhou X et al. 2022
Edit
GEN272
LMX1B
LIM homeobox transcription factor 1 beta
9q33.3
Genetic association/Functional
2
1
Thanseem I , et al. 2011
Edit
GEN1026
LNPK
lunapark, ER junction formation factor
2q31.1
Syndromic
15
4
Breuss MW , et al. 2018
Edit
GEN689
LPL
lipoprotein lipase
8p21.3
Rare single gene variant
2
7
3
Li J , et al. 2015
Edit
GEN802
LRBA
LPS-responsive vesicle trafficking, beach and anchor containing
4q31.3
Rare single gene variant
3
21
9
Gai X , et al. 2011
Edit
GEN911
LRFN2
leucine rich repeat and fibronectin type III domain containing 2
6p21.2-p21.1
Rare single gene variant
3
18
6
Morimura N , et al. 2017
Edit
GEN145
LRFN5
leucine rich repeat and fibronectin type III domain containing 5
14q21.1
Genetic Association
2
7
7
Wang K , et al. 2009
Edit
GEN1088
LRP1
LDL receptor related protein 1
12q13.3
Rare single gene variant
4
45
10
De Rubeis S , et al. 2014
Edit
GEN1275
LRP12
LDL receptor related protein 12
8q22.3
Rare single gene variant
2
4
2
Wilfert AB et al. 2021
Edit
GEN362
LRP2
LDL receptor related protein 2
2q31.1
Rare single gene variant
4
68
19
Ionita-Laza I , et al. 2012
Edit
GEN690
LRP2BP
LRP2 binding protein
4q35.1
Rare single gene variant
2
2
2
Li J , et al. 2015
Edit
GEN436
LRPPRC
leucine rich pentatricopeptide repeat containing
2p21
Functional
2
6
6
Anitha A , et al. 2012
Edit
GEN1020
LRRC4
leucine rich repeat containing 4
7q32.1
Rare single gene variant
3
6
5
Jiang YH , et al. 2013
Edit
GEN1163
LRRC4C
leucine rich repeat containing 4C
11p12
Rare single gene variant
2
4
2
Satterstrom FK et al. 2020
Edit
GEN417
LRRC7
Leucine rich repeat containing 7
1p31.1
Functional
2
4
5
Carlisle HJ , et al. 2011
Edit
GEN730
LZTR1
Leucine-zipper-like transcription regulator 1
22q11.21
Rare single gene variant
3
26
18
Krumm N , et al. 2015
Edit
GEN147
LZTS2
leucine zipper, putative tumor suppressor 2
10q24.31
Genetic Association
2
4
Wang K , et al. 2009
Edit
GEN1390
MACF1
microtubule actin crosslinking factor 1
1p34.3
Rare single gene variant
3
22
9
Iossifov I et al. 2014
Edit
GEN148
MACROD2
MACRO domain containing 2
20p12.1
Genetic Association
2
19
22
Anney R , et al. 2010
Edit
GEN405
MAGED1
MAGE family member D1
Xp11.22
Functional
2
2
3
Dombret C , et al. 2012
Edit
GEN578
MAGEL2
MAGE-like 2
15q11.2
Syndromic
4
55
24
Schaaf CP , et al. 2013
Edit
GEN668
MAL
mal, T-cell differentiation protein
2q11.1
Functional
0
2
Gupta S , et al. 2014
Edit
GEN149
MAOA
monoamine oxidase A
Xp11.3
Genetic Association
2
17
20
Cohen IL , et al. 2003
Edit
GEN524
MAOB
monoamine oxidase B
Xp11.3
Multigenic CNV
0
7
6
Saito M , et al. 2013
Edit
GEN1150
MAP1A
microtubule associated protein 1A
15q15.3
Rare single gene variant
0
1
4
Myers RA , et al. 2011
Edit
GEN1394
MAP1B
microtubule associated protein 1B
5q13.2
Functional
4
17
13
Spataro N et al. 2023
Edit
GEN150
MAP2
microtubule-associated protein 2
2q34
Rare Single Gene variant
2
5
7
Mukaetova-Ladinska EB , et al. 2004
Edit
GEN1327
MAP4K1
mitogen-activated protein kinase kinase kinase kinase 1
19q13.2
Rare single gene variant
2
4
5
Iossifov I et al. 2014
Edit
GEN1369
MAP4K4
mitogen-activated protein kinase kinase kinase kinase 4
2q11.2
Rare single gene variant
3
4
2
Zhou X et al. 2022
Edit
GEN418
MAPK1
Mitogen-activated protein kinase 1
22q11.22
Functional
2
11
5
Satoh Y , et al. 2011
Edit
GEN691
MAPK12
mitogen-activated protein kinase 12
22q13.33
Rare single gene variant
0
3
2
Li J , et al. 2015
Edit
GEN284
MAPK3
mitogen-activated protein kinase 3
16p11.2
Rare Single Gene variant
3
13
6
Schaaf CP , et al. 2011
Edit
GEN1300
MAPK8IP1
mitogen-activated protein kinase 8 interacting protein 1
11p11.2
Rare single gene variant
2
3
4
Iossifov I et al. 2014
Edit
GEN419
MAPK8IP2
Mitogen-activated protein kinase 8 interacting protein 2
22q13.33
Functional
0
1
Giza J , et al. 2010
Edit
GEN1239
MAPT
microtubule associated protein tau
17q21.31
Genetic association
2
2
4
Grove J , et al. 2019
Edit
GEN1206
MAPT-AS1
MAPT antisense RNA 1
17q21.31
Genetic association
1
1
Matoba N et al. 2020
Edit
GEN151
MARK1
microtubule affinity regulating kinase 1
1q41
Genetic association/Functional
2
15
12
Maussion G , et al. 2008
Edit
GEN1302
MAST3
microtubule associated serine/threonine kinase 3
19p13.11
Functional
4
20
7
Spinelli E et al. 2021
Edit
GEN152
MBD1
methyl-CpG binding domain protein 1
18q21.1
Rare Single Gene variant
2
13
8
Li H , et al. 2005
Edit
GEN153
MBD3
methyl-CpG binding domain protein 3
19p13.3
Rare Single Gene variant, Genetic Association
2
18
4
Cukier HN , et al. 2009
Edit
GEN345
MBD5
Methyl-CpG binding domain protein 5
2q23.1
Rare single gene variant
4
125
43
Wagenstaller J , et al. 2007
Edit
GEN437
MBD6
Methyl-CpG binding domain protein 6
12q13.3
Rare single gene variant
3
17
3
Cukier HN , et al. 2012
Edit
GEN846
MBOAT7
membrane bound O-acyltransferase domain containing 7
19q13.42
Rare single gene variant
2
Yes
41
17
Johansen A , et al. 2016
Edit
GEN551
MC4R
Melanocortin 4 receptor
18q21.32
Functional
0
4
Xu P , et al. 2013
Edit
GEN325
MCC
MCC, WNT signaling pathway regulator
5q22.2
Rare single gene variant
2
12
7
Barber JC , et al. 1994
Edit
GEN811
MCM4
minichromosome maintenance complex component 4
8q11.21
Rare single gene variant
2
4
4
Fromer M , et al. 2014
Edit
GEN1000
MCM6
minichromosome maintenance complex component 6
2q21.3
Rare single gene variant
3
10
4
Iossifov I et al. 2014
Edit
GEN155
MCPH1
microcephalin 1
8p23.1
Rare Single Gene variant
3
22
19
Ozgen HM , et al. 2009
Edit
GEN156
MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
14q21.3
Genetic Association
2
21
9
Bucan M , et al. 2009
Edit
GEN157
MECP2
Methyl CpG binding protein 2
Xq28
Syndromic
5
278
122
Amir RE , et al. 1999
Edit
GEN158
MED12
mediator complex subunit 12
Xq13.1
Genetic Association
3
47
31
Beyer KS , et al. 2002
Edit
GEN1090
MED12L
mediator complex subunit 12L
3q25.1
Rare single gene variant
3
16
7
Iossifov I et al. 2014
Edit
GEN884
MED13
mediator complex subunit 13
17q23.2
Rare single gene variant
4
37
12
Iossifov I et al. 2014
Edit
GEN649
MED13L
Mediator complex subunit 13-like
12q24.21
Rare single gene variant
4
125
53
Iossifov I , et al. 2012
Edit
GEN1359
MED23
mediator complex subunit 23
6q23.2
Rare single gene variant
2
4
4
Fu JM et al. 2022
Edit
GEN159
MEF2C
myocyte enhancer factor 2C
5q14.3
Rare Single Gene variant
4
Yes
97
49
Novara F , et al. 2010
Edit
GEN906
MEGF10
multiple EGF like domains 10
5q23.2
Genetic association
2
9
8
Wu Z , et al. 2017
Edit
GEN930
MEGF11
multiple EGF like domains 11
15q22.31
Rare single gene variant
3
8
9
Sanders SJ , et al. 2012
Edit
GEN1028
MEIS2
Meis homeobox 2
15q14
Syndromic
4
39
12
Louw JJ , et al. 2015
Edit
GEN1091
MEMO1
mediator of cell motility 1
2p22.3
Rare single gene variant
2
1
2
Iossifov I et al. 2014
Edit
GEN160
MET
met proto-oncogene (hepatocyte growth factor receptor)
7q31.2
Genetic Association
2
27
41
Campbell DB , et al. 2006
Edit
GEN1096
METTL26
methyltransferase like 26
16p13.3
Rare single gene variant
2
2
2
Iossifov I et al. 2014
Edit
GEN765
MFRP
Membrane frizzled-related protein
11q23.3
Rare single gene variant
3
12
8
Sanders SJ , et al. 2015
Edit
GEN660
MIB1
Mindbomb E3 ubiquitin protein ligase 1
18q11.2
Rare single gene variant
3
31
10
De Rubeis S , et al. 2014
Edit
GEN1328
MINK1
misshapen like kinase 1
17p13.2
Rare single gene variant
3
17
8
Iossifov I et al. 2014
Edit
GEN1049
MIR137
microRNA 137
1p21.3
Rare single gene variant
0
11
10
Carter MT , et al. 2010
Edit
GEN1149
MKX
mohawk homeobox
10p12.1
Rare single gene variant
2
4
3
Satterstrom FK et al. 2020
Edit
GEN1100
MLANA
melan-A
9p24.1
Rare single gene variant
2
3
4
Iossifov I et al. 2014
Edit
GEN780
MNT
MAX network transcriptional repressor
17p13.3
Genetic association
2
1
Kuo PH , et al. 2015
Edit
GEN746
MOCOS
Molybdenum cofactor sulfurase
18q12.2
Rare single gene variant
2
6
6
Fron F , et al. 2015
Edit
GEN161
MRTFB
myocardin related transcription factor B
16p13.12
Genetic Association
3
13
12
Holt R , et al. 2010
Edit
GEN921
MSANTD2
Myb/SANT DNA binding domain containing 2
11q24.2
Rare single gene variant
2
3
2
Lim ET , et al. 2017
Edit
GEN1404
MSL2
MSL complex subunit 2
3q22.3
Rare single gene variant
3
9
5
Costa CIS et al. 2023
Edit
GEN1225
MSL3
MSL complex subunit 3
Xp22.2
Rare single gene variant
4
36
6
Brunet T et al. 2020
Edit
GEN379
MSN
Moesin
Xq12
Functional
1
3
Kerin T , et al. 2012
Edit
GEN335
MSR1
macrophage scavenger receptor 1
8p22
Rare Single Gene variant
2
8
5
O'Roak BJ , et al. 2012
Edit
GEN1238
MSRA
methionine sulfoxide reductase A
8p23.1
Genetic association
2
7
13
Huang K et al. 2021
Edit
GEN1190
MSX2
msh homeobox 2
5q35.2
Rare single gene variant
2
5
2
C Yuen RK et al. 2017
Edit
GEN163
MTHFR
methylenetetrahydrofolate reductase (NAD(P)H)
1p36.22
Genetic Association
2
18
23
James SJ , et al. 2006
Edit
GEN785
MTOR
mechanistic target of rapamycin kinase
1p36.22
Rare single gene variant
4
69
33
Mroske C , et al. 2015
Edit
GEN529
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase
1q43
Functional
2
9
8
Muratore CR , et al. 2013
Edit
GEN1391
MTSS2
MTSS I-BAR domain containing 2
16q22.1
Rare single gene variant
4
13
5
Satterstrom FK et al. 2020
Edit
GEN438
MTX2
Metaxin 2
2q31.1
Functional
0
1
Anitha A , et al. 2012
Edit
GEN934
MUC12
mucin 12, cell surface associated
7q22.1
Rare single gene variant
2
12
4
De Rubeis S , et al. 2014
Edit
GEN943
MUC4
mucin 4, cell surface associated
3q29
Rare single gene variant
3
96
9
Iossifov I , et al. 2012
Edit
GEN1362
MYCBP2
MYC binding protein 2
13q22.3
Rare single gene variant
4
29
9
De Rubeis S , et al. 2014
Edit
GEN1036
MYH10
myosin heavy chain 10
17p13.1
Rare single gene variant
3
12
8
Willsey AJ , et al. 2013
Edit
GEN502
MYH4
Myosin, heavy chain 4, skeletal muscle
17p13.1
Rare single gene variant
2
10
7
Prasad A , et al. 2013
Edit
GEN1230
MYH9
myosin heavy chain 9
22q12.3
Rare single gene variant
4
62
8
Wang T et al. 2020
Edit
GEN1209
MYLK
myosin light chain kinase
3q21.1
Rare single gene variant
2
5
4
Luo Y et al. 2020
Edit
GEN164
MYO16
myosin XVI
13q33.3
Genetic Association
2
19
10
Wang K , et al. 2009
Edit
GEN165
MYO1A
myosin IA
12q13.3
Rare Single Gene variant
2
22
12
O'Roak BJ , et al. 2011
Edit
GEN1001
MYO1E
myosin IE
15q22.2
Rare single gene variant
3
11
6
Iossifov I et al. 2014
Edit
GEN892
MYO5A
myosin VA
15q21.2
Rare single gene variant
3
15
7
De Rubeis S , et al. 2014
Edit
GEN932
MYO5C
myosin VC
15q21.2
Rare single gene variant
2
7
5
Iossifov I et al. 2014
Edit
GEN661
MYO9B
Myosin IXB
19p13.11
Rare single gene variant
3
34
6
De Rubeis S , et al. 2014
Edit
GEN1202
MYOCD
myocardin
17p12
Rare single gene variant
2
8
3
Trost B et al. 2020
Edit
GEN693
MYOZ1
myozenin 1
10q22.2
Rare single gene variant
2
1
1
Li J , et al. 2015
Edit
GEN533
MYT1L
Myelin transcription factor 1-like
2p25.3
Multigenic CNV
5
146
38
Meyer KJ , et al. 2011
Edit
GEN1397
NAA10
N-alpha-acetyltransferase 10, NatA catalytic subunit
Xq28
Syndromic/Functional
4
83
13
Lyon GJ et al. 2023
Edit
GEN662
NAA15
N(alpha)-acetyltransferase 15, NatA auxiliary subunit
4q31.1
Rare single gene variant
4
96
22
De Rubeis S , et al. 2014
Edit
GEN777
NAALADL2
N-acetylated alpha-linked acidic dipeptidase-like 2
3q26.31
Genetic association
2
6
4
Kuo PH , et al. 2015
Edit
GEN868
NACC1
nucleus accumbens associated 1
19p13.13
Rare single gene variant
3
16
10
Schoch K , et al. 2017
Edit
GEN814
NAV2
neuron navigator 2
11p15.1
Rare single gene variant
3
26
13
Sanders SJ , et al. 2012
Edit
GEN1347
NAV3
neuron navigator 3
12q21.2
Rare single gene variant
4
44
5
Zhou X et al. 2022
Edit
GEN166
NBEA
neurobeachin
13q13.3
Rare single gene variant
4
38
25
Castermans D , et al. 2003
Edit
GEN1212
NCAPH2
non-SMC condensin II complex subunit H2
22q13.33
Rare single gene variant
2
2
1
Luo Y et al. 2020
Edit
GEN650
NCKAP1
NCK-associated protein 1
2q32.1
Rare single gene variant
4
39
15
Iossifov I , et al. 2012
Edit
GEN492
NCKAP5
NCK-associated protein 5
2q21.2
Rare single gene variant
2
10
3
Prasad A , et al. 2013
Edit
GEN350
NCKAP5L
NCK-associated protein 5-like
12q13.12
Rare single gene variant
2
Yes
12
4
Chahrour MH , et al. 2012
Edit
GEN1170
NCOA1
nuclear receptor coactivator 1
2p23.3
Rare single gene variant
3
7
4
Iossifov I et al. 2014
Edit
GEN855
NCOR1
nuclear receptor corepressor 1
17p12-p11.2
Rare single gene variant
4
59
11
Iossifov I , et al. 2012
Edit
GEN168
NDUFA5
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
7q31.32
Genetic Association
2
3
Marui T , et al. 2010
Edit
GEN439
NEFL
Neurofilament, light polypeptide
8p21.2
Genetic association/functional
0
2
2
Anitha A , et al. 2012
Edit
GEN1029
NEGR1
neuronal growth regulator 1
1p31.1
Rare single gene variant
2
6
Singh K , et al. 2018
Edit
GEN440
NELL1
neural EGFL like 1
11p15.1
Genetic association
3
2
Connolly JJ , et al. 2012
Edit
GEN782
NEO1
Neogenin 1
15q24.1
Multigenic CNV, rare single gene variant
2
Yes
10
3
Siu WK , et al. 2015
Edit
GEN1256
NEUROD2
neuronal differentiation 2
17q12
Rare single gene variant
4
10
4
Sega AG et al. 2019
Edit
GEN538
NEXMIF
neurite extension and migration factor
Xq13.3
Rare single gene variant
4
112
34
Cantagrel V , et al. 2004
Edit
GEN169
NF1
neurofibromin 1 (neurofibromatosis, von Recklinghausen disease, Watson disease)
17q11.2
Rare Single Gene variant, Genetic Association
5
48
39
Marui T , et al. 2004
Edit
GEN1059
NFE2L3
nuclear factor, erythroid 2 like 3
7p15.2
Rare single gene variant
2
4
4
Iossifov I et al. 2014
Edit
GEN290
NFIA
nuclear factor I/A
1p31.3
Rare Single Gene variant
3
29
17
Mikhail FM , et al. 2011
Edit
GEN1047
NFIB
nuclear factor I B
9p23-p22.3
Rare single gene variant
3
18
6
Iossifov I et al. 2014
Edit
GEN805
NFIX
nuclear factor I/X (CCAAT-binding transcription factor)
19p13.13
Syndromic
2
70
18
Malan V , et al. 2010
Edit
GEN766
NINL
Ninein-like
20p11.21
Rare single gene variant
2
11
10
Sanders SJ , et al. 2015
Edit
GEN318
NIPA1
non imprinted in Prader-Willi/Angelman syndrome 1
15q11.2
Rare single gene variant
2
6
6
Leblond CS , et al. 2012
Edit
GEN319
NIPA2
non imprinted in Prader-Willi/Angelman syndrome 2
15q11.2
Multigenic CNV
2
3
3
Leblond CS , et al. 2012
Edit
GEN278
NIPBL
Nipped-B homolog (Drosophila)
5p13.2
Syndromic
2
24
18
Krantz ID , et al. 2004
Edit
GEN1241
NKX2-2
NK2 homeobox 2
20p11.22
Genetic association
1
2
Grove J , et al. 2019
Edit
GEN170
NLGN1
neuroligin 1
3q26.31
Genetic Association
3
17
21
Glessner JT , et al. 2009
Edit
GEN627
NLGN2
Neuroligin 2
17p13.1
Rare single gene variant
3
7
12
Whr M , et al. 2012
Edit
GEN171
NLGN3
neuroligin 3
Xq13.1
Rare Single Gene variant
3
37
46
Jamain S , et al. 2003
Edit
GEN172
NLGN4X
neuroligin 4, X-linked
Xp22.32-p22.31
Rare Single Gene variant
4
54
43
Jamain S , et al. 2003
Edit
GEN173
NLGN4Y
neuroligin 4, Y-linked
Yq11.221
Genetic Association
2
14
6
Ylisaukko-oja T , et al. 2005
Edit
GEN694
NOS1
nitric oxide synthase 1
12q24.22
Rare single gene variant
2
7
6
Li J , et al. 2015
Edit
GEN174
NOS1AP
nitric oxide synthase 1 (neuronal) adaptor protein
1q23.3
Rare single Gene variant
2
3
7
Delorme R , et al. 2010
Edit
GEN175
NOS2
nitric oxide synthase 2
17q11.2
Genetic Association
2
8
10
Kim HW , et al. 2008
Edit
GEN1019
NOTCH2NLA
notch 2 N-terminal like A
1q21.1
Functional/Multigenic CNV
0
1
Fiddes IT , et al. 2018
Edit
GEN1172
NOVA2
NOVA alternative splicing regulator 2
19q13.32
Syndromic
3
16
3
Mattioli F et al. 2020
Edit
GEN176
NPAS2
neuronal PAS domain protein 2
2q11.2
Genetic Association
3
4
Nicholas B , et al. 2007
Edit
GEN1329
NPFFR2
neuropeptide FF receptor 2
4q13.3
Rare single gene variant
3
9
7
Iossifov I et al. 2014
Edit
GEN898
NR1D1
nuclear receptor subfamily 1 group D member 1
17q21.1
Rare single gene variant
2
8
4
Yang Z , et al. 2015
Edit
GEN1009
NR1H2
nuclear receptor subfamily 1 group H member 2
19q13.33
Functional
2
1
2
Cai Y , et al. 2018
Edit
GEN817
NR2F1
nuclear receptor subfamily 2 group F member 1
5q15
Rare single gene variant
4
83
26
Bosch DG , et al. 2014
Edit
GEN663
NR3C2
Nuclear receptor subfamily 3, group C, member 2
4q31.23
Rare single gene variant
3
22
12
De Rubeis S , et al. 2014
Edit
GEN1016
NR4A2
nuclear receptor subfamily 4 group A member 2
2q24.1
Rare single gene variant
3
20
10
Lvy J , et al. 2018
Edit
GEN177
NRCAM
neuronal cell adhesion molecule
7q31.1
Genetic Association
2
9
6
Marui T , et al. 2008
Edit
GEN628
NRG1
Neuregulin 1
8p12
Functional
0
4
Ehrlichman RS , et al. 2009
Edit
GEN178
NRP2
neuropilin 2
2q33.3
Genetic Association
2
6
10
Wu S , et al. 2007
Edit
GEN179
NRXN1
neurexin 1
2p16.3
Rare Single Gene variant
5
Yes
361
112
Feng J , et al. 2006
Edit
GEN271
NRXN2
neurexin 2
11q13.1
Rare Single Gene variant
3
28
17
Gauthier J , et al. 2011
Edit
GEN305
NRXN3
neurexin 3
14q24.3-q31.1
Rare Single Gene variant
3
36
27
Vaags AK , et al. 2012
Edit
GEN279
NSD1
nuclear receptor binding SET domain protein 1
5q35.3
Syndromic
4
60
33
Kurotaki N , et al. 2002
Edit
GEN1229
NSD2
nuclear receptor binding SET domain protein 2
4p16.3
Rare single gene variant
4
37
12
Wang T et al. 2020
Edit
GEN167
NSMCE3
NSE3 homolog, SMC5-SMC6 complex component
15q13.1
Functional
0
3
5
Chibuk TK , et al. 2002
Edit
GEN180
NTNG1
netrin G1
1p13.3
Syndromic
2
5
8
Borg I , et al. 2005
Edit
GEN1117
NTNG2
netrin G2
9q34.13
Syndromic
2
Yes
16
6
Abu-Libdeh B , et al. 2019
Edit
GEN181
NTRK1
neurotrophic tyrosine kinase, receptor, type 1
1q23.1
Rare Single Gene variant
2
15
9
Chakrabarti B , et al. 2009
Edit
GEN986
NTRK2
neurotrophic receptor tyrosine kinase 2
9q21.33
Syndromic
3
23
8
Hamdan FF , et al. 2017
Edit
GEN182
NTRK3
neurotrophic tyrosine kinase, receptor, type 3
15q25.3
Rare Single Gene variant, Genetic Association
2
11
15
Chakrabarti B , et al. 2009
Edit
GEN756
NUAK1
NUAK family, SNF1-like kinase, 1
12q23.3
Rare single gene variant
2
4
6
Iossifov I , et al. 2012
Edit
GEN1045
NUDCD2
NudC domain containing 2
5q34
Rare single gene variant
2
11
4
C Yuen RK et al. 2017
Edit
GEN812
NUP133
nucleoporin 133kDa
1q42.13
Rare single gene variant
2
4
5
Iossifov I , et al. 2012
Edit
GEN1164
NUP155
nucleoporin 155
5p13.2
Rare single gene variant
2
4
4
Satterstrom FK et al. 2020
Edit
GEN1207
NXF1
nuclear RNA export factor 1
11q12.3
Rare single gene variant
0
2
2
Luo Y et al. 2020
Edit
GEN483
NXF5
nuclear RNA export factor 5
Xq22.1
Rare Single Gene variant
0
2
4
Piton A , et al. 2012
Edit
GEN297
NXPH1
neurexophilin 1
7p21.3
Rare Single Gene variant
2
10
6
Salyakina D , et al. 2011
Edit
GEN818
OCRL
oculocerebrorenal syndrome of Lowe
Xq26.1
Syndromic
2
7
10
Kenworthy L , et al. 1993
Edit
GEN961
OFD1
OFD1, centriole and centriolar satellite protein
Xp22.2
Rare single gene variant
3
6
5
Krumm N , et al. 2015
Edit
GEN547
OGT
O-linked N-acetylglucosamine (GlcNAc) transferase
Xq13.1
Functional
0
4
5
Howerton CL , et al. 2013
Edit
GEN184
OPHN1
oligophrenin 1
Xq12
Rare Single Gene variant
2
22
18
Piton A , et al. 2010
Edit
GEN185
OPRM1
opioid receptor, mu 1
6q25.2
Functional
2
3
6
Moles A , et al. 2004
Edit
GEN186
OR1C1
olfactory receptor, family 1, subfamily C, member 1
1q44
Rare Single Gene variant
2
6
4
Bucan M , et al. 2009
Edit
GEN776
OR2M4
Olfactory receptor, family 2, subfamily M, member 4
1q44
Genetic association
4
1
Kuo PH , et al. 2015
Edit
GEN800
OR2T10
olfactory receptor family 2 subfamily T member 10
1q44
Rare single gene variant
2
3
4
Iossifov I et al. 2014
Edit
GEN767
OR52M1
Olfactory receptor, family 52, subfamily M, member 1
11p15.4
Rare single gene variant
2
2
3
Sanders SJ , et al. 2015
Edit
GEN1005
OTUD7A
OTU deubiquitinase 7A
15q13.3
Multigenic CNV
2
6
7
Uddin M , et al. 2018
Edit
GEN376
OTX1
orthodenticle homeobox 1
2p15
Genetic association
4
3
Liu X , et al. 2011
Edit
GEN828
OXT
oxytocin/neurophysin I prepropeptide
20p13
Genetic association
2
9
5
Ebstein RP , et al. 2009
Edit
GEN187
OXTR
oxytocin receptor
3p25.3
Genetic Association
0
53
50
Wu S , et al. 2005
Edit
GEN629
P2RX4
Purinergic receptor P2X, ligand-gated ion channel, 4
12q24.31
Functional
0
1
Wyatt LR , et al. 2013
Edit
GEN768
P2RX5
Purinergic receptor P2X, ligand gated ion channel, 5
17p13.2
Rare single gene variant
2
4
5
Sanders SJ , et al. 2015
Edit
GEN723
P4HA2
Prolyl 4-hydroxylase, alpha polypeptide II
5q31.1
Rare single gene variant
3
14
5
De Rubeis S , et al. 2014
Edit
GEN1336
PABPC1
poly(A) binding protein cytoplasmic 1
8q22.3
Rare single gene variant
3
10
6
De Rubeis S , et al. 2014
Edit
GEN803
PACS1
phosphofurin acidic cluster sorting protein 1
11q13.1-q13.2
Syndromic
4
53
18
Schuurs-Hoeijmakers JH , et al. 2016
Edit
GEN1012
PACS2
phosphofurin acidic cluster sorting protein 2
14q32.33
Rare single gene variant
4
40
10
Olson HE , et al. 2018
Edit
GEN630
PAFAH1B1
Platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
17p13.3
Functional
0
10
9
Sudarov A , et al. 2013
Edit
GEN1113
PAFAH1B2
platelet activating factor acetylhydrolase 1b catalytic subunit 2
11q23.3
Rare single gene variant
2
4
4
Iossifov I et al. 2014
Edit
GEN527
PAH
Phenylalanine hydroxylase
12q23.2
Rare single gene variant
2
Yes
20
11
Yu TW , et al. 2013
Edit
GEN1127
PAK1
p21 (RAC1) activated kinase 1
11q13.5-q14.1
Syndromic
3
13
7
Kernohan KD , et al. 2019
Edit
GEN1037
PAK2
p21 (RAC1) activated kinase 2
3q29
Rare single gene variant/Functional
2
4
5
Wang Y , et al. 2018
Edit
GEN1067
PAPOLG
poly(A) polymerase gamma
2p16.1
Rare single gene variant
3
10
6
De Rubeis S , et al. 2014
Edit
GEN391
PARD3B
Par-3 partitioning defective 3 homolog B (C. elegans)
2q33.3
Genetic association
2
13
9
Anney R , et al. 2012
Edit
GEN580
PATJ
PATJ, crumbs cell polarity complex component
1p31.3
Rare single gene variant
2
10
6
Kenny EM , et al. 2013
Edit
GEN667
PAX5
Paired box 5
9p13.2
Rare Single Gene variant
4
25
10
Iossifov I , et al. 2012
Edit
GEN743
PAX6
Paired box 6
11p13
Multigenic CNV
2
6
9
Umeda T , et al. 2011
Edit
GEN1073
PBX1
PBX homeobox 1
1q23.3
Rare single gene variant
4
14
7
De Rubeis S , et al. 2014
Edit
GEN1330
PC
pyruvate carboxylase
11q13.2
Rare single gene variant
3
18
8
Iossifov I et al. 2014
Edit
GEN857
PCCA
propionyl-CoA carboxylase alpha subunit
13q32.3
Syndromic
2
7
12
Al-Owain M , et al. 2013
Edit
GEN858
PCCB
propionyl-CoA carboxylase beta subunit
3q22.3
Syndromic
2
9
11
Witters P , et al. 2016
Edit
GEN189
PCDH10
protocadherin 10
4q28.3
Rare Single Gene variant
2
7
11
Morrow EM , et al. 2008
Edit
GEN894
PCDH11X
protocadherin 11 X-linked
Xq21.31
Rare single gene variant
2
5
4
Lim ET , et al. 2013
Edit
GEN399
PCDH15
protocadherin related 15
10q21.1
Genetic association
3
45
11
Anney R , et al. 2012
Edit
GEN190
PCDH19
protocadherin 19
Xq22.1
Syndromic
4
237
56
Piton A , et al. 2010
Edit
GEN324
PCDH8
protocadherin 8
13q14.3
Rare Single Gene variant
2
2
2
Leblond CS , et al. 2012
Edit
GEN191
PCDH9
protocadherin 9
13q21.32
Rare Single Gene variant
2
13
11
Marshall CR , et al. 2008
Edit
GEN441
PCDHA1
Protocadherin alpha 1
5q31.3
Rare single gene variant
2
7
4
Anitha A , et al. 2012
Edit
GEN450
PCDHA10
Protocadherin alpha 10
5q31.3
Rare single gene variant
2
11
6
Anitha A , et al. 2012
Edit
GEN451
PCDHA11
Protocadherin alpha 11
5q31.3
Rare single gene variant
2
10
6
Anitha A , et al. 2012
Edit
GEN452
PCDHA12
Protocadherin alpha 12
5q31.3
Rare single gene variant
2
8
5
Anitha A , et al. 2012
Edit
GEN453
PCDHA13
Protocadherin alpha 13
5q31.3
Rare single gene variant
2
7
5
Anitha A , et al. 2012
Edit
GEN442
PCDHA2
Protocadherin alpha 2
5q31.3
Rare single gene variant
2
9
5
Anitha A , et al. 2012
Edit
GEN443
PCDHA3
Protocadherin alpha 3
5q31.3
Rare single gene variant
2
8
5
Anitha A , et al. 2012
Edit
GEN444
PCDHA4
Protocadherin alpha 4
5q31.3
Rare single gene variant
2
10
6
Anitha A , et al. 2012
Edit
GEN445
PCDHA5
Protocadherin alpha 5
5q31.3
Rare single gene variant
2
11
7
Anitha A , et al. 2012
Edit
GEN446
PCDHA6
Protocadherin alpha 6
5q31.3
Rare single gene variant
2
8
4
Anitha A , et al. 2012
Edit
GEN447
PCDHA7
Protocadherin alpha 7
5q31.3
Rare single gene variant
2
10
7
Anitha A , et al. 2012
Edit
GEN448
PCDHA8
Protocadherin alpha 8
5q31.3
Rare single gene variant
2
10
5
Anitha A , et al. 2012
Edit
GEN449
PCDHA9
Protocadherin alpha 9
5q31.3
Rare single gene variant
2
7
4
Anitha A , et al. 2012
Edit
GEN454
PCDHAC1
Protocadherin alpha subfamily C, 1
5q31.3
Genetic association
2
6
5
Anitha A , et al. 2012
Edit
GEN455
PCDHAC2
Protocadherin alpha subfamily C, 2
5q31.3
Genetic association
2
4
4
Anitha A , et al. 2012
Edit
GEN342
PCDHGA11
protocadherin gamma subfamily A, 11
5q31.3
Rare Single Gene variant
2
5
4
Sato D , et al. 2012
Edit
GEN1393
PCLO
piccolo presynaptic cytomatrix protein
7q21.11
Genetic association
3
15
11
Liu D et al. 2023
Edit
GEN1101
PCM1
pericentriolar material 1
8p22
Rare single gene variant
2
7
6
Iossifov I et al. 2014
Edit
GEN948
PDCD1
programmed cell death 1
2q37.3
Rare single gene variant
2
3
4
O'Roak BJ , et al. 2012
Edit
GEN309
PDE1C
phosphodiesterase 1C
7p14.3
Rare Single Gene variant
2
3
3
Vaags AK , et al. 2012
Edit
GEN1346
PDE3B
phosphodiesterase 3B
11p15.2
Rare single gene variant
3
24
8
Kim IB et al. 2022
Edit
GEN311
PDE4A
phosphodiesterase 4A
19p13.2
Functional
2
5
5
Braun NN , et al. 2007
Edit
GEN312
PDE4B
phosphodiesterase 4B, cAMP-specific
1p31.3
Functional
2
6
7
Braun NN , et al. 2007
Edit
GEN1068
PDK2
pyruvate dehydrogenase kinase 2
17q21.33
Rare single gene variant
2
4
6
Iossifov I et al. 2014
Edit
GEN192
PDZD4
PDZ domain containing 4
Xq28
Rare Single Gene variant
0
4
5
Piton A , et al. 2010
Edit
GEN1308
PDZD8
PDZ domain containing 8
10q25.3-q26.11
Functional
2
5
3
Al-Amri AH et al. 2022
Edit
GEN1215
PEBP4
phosphatidylethanolamine binding protein 4
8p21.3
Rare single gene variant
2
2
2
Luo Y et al. 2020
Edit
GEN276
PECR
peroxisomal trans-2-enoyl-CoA reductase
2q35
Rare Single Gene variant
0
Yes
4
3
Najmabadi H , et al. 2011
Edit
GEN193
PER1
period homolog 1 (Drosophila)
17p13.1
Genetic Association
2
12
9
Nicholas B , et al. 2007
Edit
GEN899
PER2
period circadian clock 2
2q37.3
Rare single gene variant
3
14
8
Iossifov I et al. 2014
Edit
GEN326
PEX7
peroxisomal biogenesis factor 7
6q23.3
Genetic Association
2
Yes
6
5
Ro M , et al. 2012
Edit
GEN859
PGLYRP2
peptidoglycan recognition protein 2
19p13.12
Rare single gene variant
2
5
6
Arentsen T , et al. 2016
Edit
GEN1151
PHF12
PHD finger protein 12
17q11.2
Rare single gene variant
4
24
4
Satterstrom FK et al. 2020
Edit
GEN1298
PHF14
PHD finger protein 14
7p21.3
Rare single gene variant
3
20
6
Feliciano P et al. 2019
Edit
GEN651
PHF2
PHD finger protein 2
9q22.31
Rare single gene variant
3
9
8
Iossifov I , et al. 2012
Edit
GEN1070
PHF21A
PHD finger protein 21A
11p11.2
Syndromic
4
27
15
Iossifov I et al. 2014
Edit
GEN885
PHF3
PHD finger protein 3
6q12
Rare single gene variant
3
11
5
Iossifov I et al. 2014
Edit
GEN1228
PHF7
PHD finger protein 7
3p21.1
Rare single gene variant
2
15
4
Wang T et al. 2020
Edit
GEN456
PHF8
PHD finger protein 8
Xp11.22
Syndromic
3
33
13
Nava C , et al. 2012
Edit
GEN856
PHIP
pleckstrin homology domain interacting protein
6q14.1
Rare single gene variant
4
132
25
Iossifov I et al. 2014
Edit
GEN1388
PHLPP1
PH domain and leucine rich repeat protein phosphatase 1
18q21.33
Rare single gene variant
2
9
5
Wilfert AB et al. 2021
Edit
GEN738
PHRF1
PHD and ring finger domains 1
11p15.5
Rare single gene variant
2
6
5
De Rubeis S , et al. 2014
Edit
GEN1260
PIDD1
p53-induced death domain protein 1
11p15.5
Syndromic
2
Yes
9
3
Zaki MS et al. 2021
Edit
GEN1255
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
3q26.32
Rare single gene variant
3
12
8
Turner TN et al. 2016
Edit
GEN194
PIK3CG
phosphoinositide-3-kinase, catalytic, gamma polypeptide
7q22.3
Genetic Association
2
2
5
Serajee FJ , et al. 2003
Edit
GEN552
PIK3R2
phosphoinositide-3-kinase regulatory subunit 2
19p13.11
Syndromic
2
12
10
Rivire JB , et al. 2012
Edit
GEN195
PINX1
PIN2/TERF1 interacting, telomerase inhibitor 1
8p23.1
Rare Single Gene variant
2
4
7
Pinto D , et al. 2010
Edit
GEN196
PITX1
paired-like homeodomain 1
5q31.1
Genetic Association
2
9
6
Philippi A , et al. 2007
Edit
GEN1189
PJA1
praja ring finger ubiquitin ligase 1
Xq13.1
Syndromic
2
7
1
Suzuki T et al. 2020
Edit
GEN371
PLAUR
Plasminogen activator, urokinase receptor
19q13.31
Genetic association
2
4
3
Campbell DB , et al. 2009
Edit
GEN316
PLCB1
phospholipase C, beta 1 (phosphoinositide-specific)
20p12.3
Rare Single Gene variant
2
18
9
Christian SL , et al. 2008
Edit
GEN197
PLCD1
phospholipase C, delta 1
3p22.2
Rare Single Gene variant
2
6
11
O'Roak BJ , et al. 2011
Edit
GEN1114
PLCD4
phospholipase C delta 4
2q35
Rare single gene variant
2
4
5
De Rubeis S , et al. 2014
Edit
GEN1411
PLEKHA8
pleckstrin homology domain containing A8
7p14.3
Rare single gene variant
2
3
2
Cirnigliaro M et al. 2023
Edit
GEN198
PLN
phospholamban
6q22.31
Rare Single Gene variant
1
4
Marshall CR , et al. 2008
Edit
GEN972
PLPPR4
phospholipid phosphatase related 4
1p21.3-p21.2
Functional
2
7
7
Vogt J , et al. 2015
Edit
GEN1257
PLXNA1
plexin A1
3q21.3
Rare single gene variant
3
Yes
24
9
De Rubeis S , et al. 2014
Edit
GEN962
PLXNA3
plexin A3
Xq28
Rare single gene variant
3
26
8
Krumm N , et al. 2015
Edit
GEN497
PLXNA4
Plexin A4
7q32.3
Functional
2
5
6
Prasad A , et al. 2013
Edit
GEN872
PLXNB1
plexin B1
3p21.31
Rare single gene variant
3
9
5
De Rubeis S , et al. 2014
Edit
GEN1015
PNPLA7
patatin like phospholipase domain containing 7
9q34.3
Rare single gene variant
2
11
6
O'Roak BJ , et al. 2012
Edit
GEN368
POGZ
Pogo transposable element with ZNF domain
1q21.3
Rare single gene variant
5
208
61
Neale BM , et al. 2012
Edit
GEN922
POLA2
DNA polymerase alpha 2, accessory subunit
11q13.1
Rare single gene variant
2
7
7
Iossifov I et al. 2014
Edit
GEN1312
POLR2A
RNA polymerase II subunit A
17p13.1
Rare single gene variant
3
39
11
Neale BM , et al. 2012
Edit
GEN1187
POLR3A
RNA polymerase III subunit A
10q22.3
Syndromic
3
Yes
14
11
C Yuen RK et al. 2017
Edit
GEN528
POMGNT1
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
1p34.1
Syndromic
2
Yes
22
10
Yu TW , et al. 2013
Edit
GEN942
POMT1
protein O-mannosyltransferase 1
9q34.13
Rare single gene variant
2
17
4
Krumm N , et al. 2015
Edit
GEN199
PON1
paraoxonase 1
7q21.3
Genetic Association
2
5
D'Amelio M , et al. 2005
Edit
GEN495
POT1
Protection of telomeres 1 homolog (S. pombe)
7q31.33
Rare single gene variant
2
4
3
Prasad A , et al. 2013
Edit
GEN806
POU3F2
POU class 3 homeobox 2
6q16.1
Functional
2
22
9
Belinson H , et al. 2016
Edit
GEN1092
POU3F3
POU class 3 homeobox 3
2q12.1
Syndromic
3
41
4
Snijders Blok L , et al. 2019
Edit
GEN512
PPFIA1
PTPRF interacting protein alpha 1
11q13.3
Rare single gene variant
2
6
5
Schluth-Bolard C , et al. 2013
Edit
GEN901
PPM1D
protein phosphatase, Mg2+/Mn2+ dependent 1D
17q23.2
Rare single gene variant
2
64
10
Sanders SJ , et al. 2012
Edit
GEN359
PPP1R1B
Protein phosphatase 1, regulatory (inhibitor) subunit 1B
17q12
Genetic association
2
4
2
Hettinger JA , et al. 2012
Edit
GEN200
PPP1R3F
protein phosphatase 1, regulatory (inhibitor) subunit 3F
Xp11.23
Rare Single Gene variant
2
18
7
Piton A , et al. 2010
Edit
GEN1165
PPP1R9B
protein phosphatase 1 regulatory subunit 9B
17q21.33
Rare single gene variant
2
8
4
Satterstrom FK et al. 2020
Edit
GEN1055
PPP2CA
protein phosphatase 2 catalytic subunit alpha
5q31.1
Syndromic
3
20
4
Reynhout S , et al. 2019
Edit
GEN810
PPP2R1B
protein phosphatase 2 regulatory subunit A, beta
11q23.1
Rare single gene variant
2
8
8
Sanders SJ , et al. 2012
Edit
GEN786
PPP2R5D
Protein phosphatase 2, regulatory subunit B', delta
6p21.1
Rare single gene variant
4
71
31
Shang L , et al. 2015
Edit
GEN1251
PPP3CA
protein phosphatase 3 catalytic subunit alpha
4q24
Syndromic
3
28
12
Myers CT et al. 2017
Edit
GEN1161
PPP5C
protein phosphatase 5 catalytic subunit
19q13.32
Rare single gene variant
2
4
3
Iossifov I et al. 2014
Edit
GEN791
PREX1
Phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1
20q13.13
Genetic association/Rare single gene variant/Functional
2
11
5
Li J , et al. 2015
Edit
GEN588
PRICKLE1
Prickle homolog 1 (Drosophila)
12q12
Syndromic
2
9
7
Paemka L , et al. 2013
Edit
GEN545
PRICKLE2
prickle planar cell polarity protein 2
3p14.1
Rare single gene variant/multigenic CNV
3
14
7
Sowers LP , et al. 2013
Edit
GEN1102
PRKAR1B
protein kinase cAMP-dependent type I regulatory subunit beta
7p22.3
Rare single gene variant
4
20
7
De Rubeis S , et al. 2014
Edit
GEN1072
PRKCA
protein kinase C alpha
17q24.2
Rare single gene variant
2
6
6
De Rubeis S , et al. 2014
Edit
GEN201
PRKCB
protein kinase C beta
16p12.2-p12.1
Genetic Association
2
7
8
Philippi A , et al. 2005
Edit
GEN457
PRKD1
Protein kinase D1
14q12
Syndromic
2
11
7
Ellaway CJ , et al. 2012
Edit
GEN1128
PRKD2
protein kinase D2
19q13.32
Rare single gene variant
3
4
4
De Rubeis S , et al. 2014
Edit
GEN839
PRKDC
protein kinase, DNA-activated, catalytic polypeptide
8q11.21
Syndromic
3
17
9
Filiano AJ , et al. 2016
Edit
GEN188
PRKN
parkin RBR E3 ubiquitin protein ligase
6q26
Genetic Association
2
49
19
Glessner JT , et al. 2009
Edit
GEN639
PRODH
Proline dehydrogenase (oxidase) 1
22q11.21
Syndromic
24
8
Afenjar A , et al. 2007
Edit
GEN1421
PRPF19
pre-mRNA processing factor 19
11q12.2
Rare single gene variant
3
9
3
et al.
Edit
GEN953
PRPF39
pre-mRNA processing factor 39
14q21.2
Rare single gene variant
2
4
3
De Rubeis S , et al. 2014
Edit
GEN1337
PRPF8
pre-mRNA processing factor 8
17p13.3
Rare single gene variant
3
25
9
Iossifov I et al. 2014
Edit
GEN1008
PRR12
proline rich 12
19q13.33
Syndromic
4
35
7
Leduc MS , et al. 2018
Edit
GEN1378
PRR14L
proline rich 14 like
22q12.2
Rare single gene variant
3
5
5
C Yuen RK et al. 2017
Edit
GEN1412
PRR25
proline rich 25
16p13.3
Rare single gene variant
2
6
2
Cirnigliaro M et al. 2023
Edit
GEN458
PRSS38
serine protease 38
1q42.13
Genetic association
2
5
4
Connolly JJ , et al. 2012
Edit
GEN310
PRUNE2
prune homolog 2
9q21.2
Rare Single Gene variant
3
15
12
Vaags AK , et al. 2012
Edit
GEN329
PSD3
pleckstrin and Sec7 domain containing 3
8p22
Rare Single Gene variant
2
11
7
Pinto D , et al. 2010
Edit
GEN202
PSMD10
proteasome (prosome, macropain) 26S subunit, non-ATPase, 10
Xq22.3
Rare Single Gene variant
2
2
7
Piton A , et al. 2010
Edit
GEN1372
PSMD11
proteasome 26S subunit, non-ATPase 11
17q11.2
Rare single gene variant
2
4
2
Zhou X et al. 2022
Edit
GEN867
PSMD12
proteasome 26S subunit, non-ATPase 12
17q24.2
Syndromic
3
16
5
Kry S , et al. 2017
Edit
GEN1374
PSMD6
proteasome 26S subunit, non-ATPase 6
3p14.1
Rare single gene variant
2
3
3
Satterstrom FK et al. 2020
Edit
GEN848
PTBP2
polypyrimidine tract binding protein 2
1p21.3
Rare single gene variant
2
Yes
6
8
Doan RN , et al. 2016
Edit
GEN203
PTCHD1
patched domain containing 1
Xp22.11
Rare Single Gene variant
3
64
18
Marshall CR , et al. 2008
Edit
GEN1129
PTCHD1-AS
PTCHD1antisense RNA (head to head)
Xp22.11
Rare single gene variant
3
3
Noor A , et al. 2010
Edit
GEN1307
PTDSS1
phosphatidylserine synthase 1
8q22.1
Syndromic
2
5
6
Yuen RK , et al. 2015
Edit
GEN204
PTEN
phosphatase and tensin homolog (mutated in multiple advanced cancers 1)
10q23.31
Syndromic
5
174
97
Goffin A , et al. 2001
Edit
GEN540
PTGER3
prostaglandin E receptor 3
1p31.1
Rare single gene variant
2
Yes
2
2
Nava C , et al. 2013
Edit
GEN205
PTGS2
prostaglandin-endoperoxide synthase 2
1q31.1
Genetic Association
2
3
8
Yoo HJ , et al. 2008
Edit
GEN769
PTK7
Protein tyrosine kinase 7 (inactive)
6p21.1
Rare single gene variant
3
9
8
Sanders SJ , et al. 2015
Edit
GEN277
PTPN11
protein tyrosine phosphatase, non-receptor type 11
12q24.13
Syndromic
3
42
26
Tartaglia M , et al. 2001
Edit
GEN1293
PTPN4
protein tyrosine phosphatase non-receptor type 4
2q14.2
Syndromic
2
10
5
Chmielewska JJ et al. 2021
Edit
GEN605
PTPRB
protein tyrosine phosphatase, receptor type B
12q15
Genetic association
2
6
6
Wittkowski KM , et al. 2014
Edit
GEN206
PTPRC
protein tyrosine phosphatase, receptor type, C
1q31.3-q32.1
Genetic Association
2
10
11
Pinto D , et al. 2010
Edit
GEN314
PTPRT
protein tyrosine phosphatase, receptor type, T
20q12-q13.11
Rare Single Gene variant
2
13
11
Christian SL , et al. 2008
Edit
GEN734
PVALB
Parvalbumin
22q12.3
Functional
0
2
Whr M , et al. 2015
Edit
GEN534
PXDN
peroxidasin
2p25.3
Multigenic CNV
2
12
8
Meyer KJ , et al. 2011
Edit
GEN724
PYHIN1
Pyrin and HIN domain family, member 1
1q23.1
Rare single gene variant
2
4
4
De Rubeis S , et al. 2014
Edit
GEN919
QRICH1
glutamine rich 1
3p21.31
Rare single gene variant
4
57
13
De Rubeis S , et al. 2014
Edit
GEN370
RAB11FIP5
RAB11 family interacting protein 5
2p13.2
Rare single gene variant
2
5
6
Roohi J , et al. 2008
Edit
GEN511
RAB19
RAB19, member RAS oncogene family
7q34
Rare single gene variant
2
3
3
Schluth-Bolard C , et al. 2013
Edit
GEN807
RAB2A
RAB2A, member RAS oncogene family
8q12.1-q12.2
Rare single gene variant
2
5
8
Sanders SJ , et al. 2012
Edit
GEN207
RAB39B
RAB39B, member RAS oncogene family
Xq28
Rare Single Gene variant
3
17
19
Giannandrea M , et al. 2010
Edit
GEN725
RAB43
RAB43, member RAS oncogene family
3q21.3
Rare single gene variant
2
2
2
Krumm N , et al. 2015
Edit
GEN984
RAC1
Rac family small GTPase 1
7p22.1
Functional
2
18
10
Duffney LJ , et al. 2015
Edit
GEN1025
RAD21
RAD21cohesin complex component
8q24.11
Syndromic
0
2
6
Deardorff MA , et al. 2012
Edit
GEN951
RAD21L1
RAD21 cohesin complex component like 1
20p13
Rare single gene variant
2
4
3
Iossifov I , et al. 2012
Edit
GEN208
RAI1
retinoic acid induced 1
17p11.2
Syndromic
4
30
34
Nakamine A , et al. 2007
Edit
GEN1075
RALA
RAS like proto-oncogene A
7p14.1
Rare single gene variant
3
15
6
Hiatt SM , et al. 2018
Edit
GEN1054
RALGAPB
Ral GTPase activating protein non-catalytic beta subunit
20q11.23
Rare single gene variant
4
16
6
De Rubeis S , et al. 2014
Edit
GEN760
RANBP17
RAN binding protein 17
5q35.1
Rare single gene variant
3
11
9
Sanders SJ , et al. 2015
Edit
GEN209
RAPGEF4
Rap guanine nucleotide exchange factor (GEF) 4
2q31.1
Rare Single Gene variant, Genetic Association
3
10
18
Bacchelli E , et al. 2003
Edit
GEN560
RASD1
ras related dexamethasone induced 1
17p11.2
Functional
0
1
Lacaria M , et al. 2013
Edit
GEN394
RASSF5
Ras association domain family member 5
1q32.1
Genetic association
2
4
4
Anney R , et al. 2012
Edit
GEN210
RB1CC1
RB1-inducible coiled-coil 1
8q11.23
Rare Single Gene variant
3
11
7
Marshall CR , et al. 2008
Edit
GEN1358
RBBP5
RB binding protein 5, histone lysine methyltransferase complex subunit
1q32.1
Functional
2
4
5
Zhou X et al. 2022
Edit
GEN001
RBFOX1
RNA binding protein, fox-1 homolog (C. elegans) 1
16p13.3
Genetic Association
2
86
43
Sebat J , et al. 2007
Edit
GEN1276
RBL2
RB transcriptional corepressor like 2
16q12.2
Syndromic
3
9
5
Wilfert AB et al. 2021
Edit
GEN726
RBM27
RNA binding motif protein 27
5q32
Rare single gene variant
2
4
4
Krumm N , et al. 2015
Edit
GEN519
RBM8A
RNA binding motif protein 8A
1q21.1
Multigenic CNV
2
2
6
Nguyen LS , et al. 2013
Edit
GEN211
RBMS3
RNA binding motif, single stranded interacting protein 3
3p24.1
Rare Single Gene variant
2
2
3
O'Roak BJ , et al. 2011
Edit
GEN212
REEP3
receptor accessory protein 3
10q21.3
Rare single gene variant
1
3
Castermans D , et al. 2007
Edit
GEN213
RELN
Reelin
7q22.1
Genetic Association
4
238
64
Persico AM , et al. 2001
Edit
GEN491
RERE
Arginine-glutamic acid dipeptide (RE) repeats
1p36.23
Rare single gene variant
4
36
15
Prasad A , et al. 2013
Edit
GEN940
RFX3
regulatory factor X3
9p24.2
Rare single gene variant
4
31
11
De Rubeis S , et al. 2014
Edit
GEN1235
RFX4
regulatory factor X4
12q23.3
Rare single gene variant
2
Yes
5
2
Harris HK et al. 2021
Edit
GEN1236
RFX7
regulatory factor X7
15q21.3
Rare single gene variant
4
21
4
De Rubeis S , et al. 2014
Edit
GEN215
RGS7
regulator of G-protein signaling 7
1q43
Rare Single Gene variant
Yes
6
6
Pinto D , et al. 2010
Edit
GEN983
RHEB
Ras homolog, mTORC1 binding
7q36.1
Syndromic
0
3
2
Reijnders MRF , et al. 2017
Edit
GEN216
RHOXF1
Rhox homeobox family, member 1
Xq24
Genetic Association
2
3
Wang K , et al. 2009
Edit
GEN1266
RIF1
replication timing regulatory factor 1
2q23.3
Rare single gene variant
3
13
3
Wilfert AB et al. 2021
Edit
GEN637
RIMS1
Regulating synaptic membrane exocytosis 1
6q13
Rare single gene variant
3
16
10
Dong S , et al. 2014
Edit
GEN1180
RIMS2
regulating synaptic membrane exocytosis 2
8q22.3
Genetic association
3
14
6
Mechaussier S et al. 2020
Edit
GEN217
RIMS3
regulating synaptic membrane exocytosis 3
1p34.2
Rare single gene variant
3
7
4
Kumar RA , et al. 2009
Edit
GEN815
RIT2
Ras-like without CAAX 2
18q12.3
Genetic association
6
3
Liu X , et al. 2015
Edit
GEN708
RLIM
Ring finger protein, LIM domain interacting
Xq13.2
Rare single gene variant
2
19
6
Tnne E , et al. 2015
Edit
GEN774
RNF135
Ring finger protein 135
17q11.2
Syndromic
0
11
5
Tastet J , et al. 2015
Edit
GEN1122
RNF25
ring finger protein 25
2q35
Rare single gene variant
2
3
3
Iossifov I et al. 2014
Edit
GEN960
RNF38
ring finger protein 38
9p13.2
Rare single gene variant
2
2
2
Sanders SJ , et al. 2012
Edit
GEN521
RNPS1
RNA binding protein with serine rich domain 1
16p13.3
Multigenic CNV
1
1
Nguyen LS , et al. 2013
Edit
GEN218
ROBO1
roundabout, axon guidance receptor, homolog 1 (Drosophila)
3p12.3
Functional
3
15
15
Hu VW , et al. 2006
Edit
GEN493
ROBO2
roundabout guidance receptor 2
3p12.3
Functional
2
11
10
Prasad A , et al. 2013
Edit
GEN219
RORA
RAR-related orphan receptor A
15q22.2
Functional
4
27
25
Nguyen A , et al. 2010
Edit
GEN1138
RORB
RAR related orphan receptor B
9q21.13
Functional
4
24
13
Iossifov I et al. 2014
Edit
GEN1407
RPH3A
rabphilin 3A
12q24.13
Rare single gene variant
3
13
7
Pavinato L et al. 2023
Edit
GEN220
RPL10
ribosomal protein L10
Xq28
Rare single gene variant
3
10
14
Klauck SM , et al. 2006
Edit
GEN375
RPP25
ribonuclease P and MRP subunit p25
15q24.2
Functional
0
1
2
Huang HS , et al. 2010
Edit
GEN221
RPS6KA2
ribosomal protein S6 kinase, 90kDa, polypeptide 2
6q27
Rare Single Gene variant
2
4
5
Marshall CR , et al. 2008
Edit
GEN591
RPS6KA3
Ribosomal protein S6 kinase, 90kDa, polypeptide 3
Xp22.12
Syndromic
3
16
18
O'Roak BJ , et al. 2012
Edit
GEN1173
RSRC1
arginine and serine rich coiled-coil 1
3q25.32
Syndromic
Yes
13
7
Perez Y et al. 2018
Edit
GEN1381
RUNX1T1
RUNX1 partner transcriptional co-repressor 1
8q21.3
Rare single gene variant
3
3
3
Satterstrom FK et al. 2020
Edit
GEN1265
RUSC2
RUN and SH3 domain containing 2
9p13.3
Rare single gene variant
3
18
5
Wilfert AB et al. 2021
Edit
GEN1419
SACS
sacsin molecular chaperone
13q12.12
Rare single gene variant
3
10
7
et al.
Edit
GEN503
SAE1
SUMO1 activating enzyme subunit 1
19q13.32
Rare single gene variant
0
7
4
Prasad A , et al. 2013
Edit
GEN1050
SAMD11
sterile alpha motif domain containing 11
1p36.33
Rare single gene variant
2
11
4
Chapman NH , et al. 2015
Edit
GEN931
SASH1
SAM and SH3 domain containing 1
6q24.3-q25.1
Rare single gene variant
3
7
4
Iossifov I et al. 2014
Edit
GEN1160
SATB1
SATB homeobox 1
3p24.3
Rare single gene variant
4
40
4
Satterstrom FK et al. 2020
Edit
GEN346
SATB2
SATB homeobox 2
2q33.1
Syndromic
4
228
44
Talkowski ME , et al. 2012
Edit
GEN473
SBF1
SET binding factor 1
22q13.33
Rare Single Gene variant
3
12
11
O'Roak BJ , et al. 2012
Edit
GEN1349
SCAF1
SR-related CTD associated factor 1
19q13.33
Rare single gene variant
3
26
4
Zhou X et al. 2022
Edit
GEN1203
SCAF4
SR-related CTD associated factor 4
21q22.11
Rare single gene variant
3
18
6
Fliedner A et al. 2020
Edit
GEN222
SCFD2
sec1 family domain containing 2
4q12
Rare Single Gene variant
0
6
4
Pinto D , et al. 2010
Edit
GEN1384
SCGN
secretagogin, EF-hand calcium binding protein
6p22.2
Functional
2
3
4
Liu Z et al. 2023
Edit
GEN1263
SCN10A
sodium voltage-gated channel alpha subunit 10
3p22.2
Rare single gene variant
2
Yes
26
7
Kambouris M et al. 2016
Edit
GEN223
SCN1A
sodium channel, voltage-gated, type I, alpha subunit
2q24.3
Rare Single Gene variant
4
256
94
Weiss LA , et al. 2003
Edit
GEN224
SCN2A
sodium channel, voltage-gated, type II, alpha subunit
2q24.3
Rare Single Gene variant
5
414
114
Weiss LA , et al. 2003
Edit
GEN739
SCN4A
Sodium channel, voltage gated, type IV alpha subunit
17q23.3
Rare single gene variant
2
6
5
Iossifov I et al. 2014
Edit
GEN695
SCN5A
sodium voltage-gated channel alpha subunit 5
3p22.2
Rare single gene variant
2
8
5
Li J , et al. 2015
Edit
GEN485
SCN7A
sodium voltage-gated channel alpha subunit 7
2q24.3
Rare Single Gene variant
3
Yes
10
7
Morrow EM , et al. 2008
Edit
GEN327
SCN8A
sodium channel, voltage gated, type VIII, alpha subunit
12q13.13
Rare single gene variant
4
218
59
Veeramah KR , et al. 2012
Edit
GEN861
SCN9A
sodium voltage-gated channel alpha subunit 9
2q24.3
Rare single gene variant
3
33
8
Rubinstein M , et al. 2016
Edit
GEN954
SCP2
sterol carrier protein 2
1p32.3
Rare single gene variant
2
5
3
Sanders SJ , et al. 2012
Edit
GEN225
SDC2
syndecan 2 (heparan sulfate proteoglycan 1, cell surface-associated, fibroglycan )
8q22.1
Genetic association
2
4
Ishikawa-Brush Y , et al. 1997
Edit
GEN459
SDK1
sidekick cell adhesion molecule 1
7p22.2
Genetic association
3
18
10
Connolly JJ , et al. 2012
Edit
GEN1077
SEMA3F
semaphorin 3F
3p21.31
Functional
2
5
4
Li Z , et al. 2019
Edit
GEN226
SEMA5A
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
5p15.31
Functional
2
17
19
Melin M , et al. 2006
Edit
GEN1296
SENP1
SUMO specific peptidase 1
12q13.11
Rare single gene variant
2
3
3
Yang K et al. 2021
Edit
GEN372
SERPINE1
serpin family E member 1
7q22.1
Genetic association
1
2
Campbell DB , et al. 2009
Edit
GEN1057
SET
SETnuclear proto-oncogene
9q34.11
Rare single gene variant
3
12
6
C Yuen RK et al. 2017
Edit
GEN640
SETBP1
SET binding protein 1
18q12.3
Rare single gene variant
4
98
31
O'Roak BJ , et al. 2012
Edit
GEN1176
SETD1A
SET domain containing 1A, histone lysine methyltransferase
16p11.2
Rare single gene variant
3
31
11
C Yuen RK et al. 2017
Edit
GEN994
SETD1B
SET domain containing 1B
12q24.31
Syndromic
4
59
19
Iossifov I et al. 2014
Edit
GEN474
SETD2
SET domain containing 2
3p21.31
Rare Single Gene variant
4
83
25
O'Roak BJ , et al. 2012
Edit
GEN607
SETD5
SET domain containing 5
3p25.3
Rare Single Gene variant
4
137
37
Grozeva D , et al. 2014
Edit
GEN460
SETDB1
SET domain, bifurcated 1
1q21.3
Rare single gene variant
3
16
5
Cukier HN , et al. 2012
Edit
GEN461
SETDB2
SET domain, bifurcated 2
13q14.2
Syndromic
3
11
3
Cukier HN , et al. 2012
Edit
GEN227
SEZ6L2
SEZ6L2 seizure related 6 homolog (mouse)-like 2
16p11.2
Rare Single Gene variant
2
11
7
Kumar RA , et al. 2009
Edit
GEN1071
SF3B1
splicing factor 3b subunit 1
2q33.1
Rare single gene variant
3
10
6
De Rubeis S , et al. 2014
Edit
GEN601
SGSH
N-sulfoglucosamine sulfohydrolase
17q25.3
Syndromic
0
8
8
Rumsey RK , et al. 2014
Edit
GEN475
SGSM3
Small G protein signaling modulator 3
22q13.1
Rare Single Gene variant
2
17
8
O'Roak BJ , et al. 2012
Edit
GEN228
SH3KBP1
SH3-domain kinase binding protein 1
Xp22.12
Rare Single Gene variant
2
3
5
Piton A , et al. 2010
Edit
GEN1315
SH3RF1
SH3 domain containing ring finger 1
4q32.3-q33
Rare single gene variant
3
21
5
Satterstrom FK et al. 2020
Edit
GEN1076
SH3RF2
SH3 domain containing ring finger 2
5q32
Functional
2
6
5
Wang S , et al. 2018
Edit
GEN1125
SH3RF3
SH3 domain containing ring finger 3
2q13
Rare single gene variant
2
3
3
Iossifov I et al. 2014
Edit
GEN340
SHANK1
SH3 and multiple ankyrin repeat domains 1
19q13.33
Rare Single Gene variant
4
60
16
Sato D , et al. 2012
Edit
GEN229
SHANK2
SH3 and multiple ankyrin repeat domains 2
11q13.3-q13.4
Rare Single Gene variant
4
141
52
Berkel S , et al. 2010
Edit
GEN230
SHANK3
SH3 and multiple ankyrin repeat domains 3
22q13.33
Rare Single Gene variant
5
417
146
Durand CM , et al. 2006
Edit
GEN821
SHOX
short stature homeobox
Yp11.2
Rare single gene variant
2
28
3
Tropeano M , et al. 2016
Edit
GEN712
SIK1
Salt-inducible kinase 1
21q22.3
Rare single gene variant
2
10
8
Hansen J , et al. 2015
Edit
GEN837
SIN3A
SIN3 transcription regulator family member A
15q24.2
Rare single gene variant
4
77
17
Witteveen JS , et al. 2016
Edit
GEN1242
SIN3B
SIN3 transcription regulator family member B
19p13.11
Rare single gene variant
3
15
6
Iossifov I et al. 2014
Edit
GEN1281
SIPA1L1
signal induced proliferation associated 1 like 1
14q24.2
Rare single gene variant
3
8
5
Wilfert AB et al. 2021
Edit
GEN1153
SKI
SKIproto-oncogene
1p36.33-p36.32
Rare single gene variant
4
9
6
De Rubeis S , et al. 2014
Edit
GEN783
SLC12A5
Solute carrier family 12 (potassium/chloride transporter), member 5
20q13.12
Rare single gene variant
3
18
9
Merner ND , et al. 2015
Edit
GEN1085
SLC13A4
solute carrier family 13 member 4
7q33
Functional
2
4
3
Zhang Z , et al. 2019
Edit
GEN331
SLC16A3
solute carrier family 16, member 3 (monocarboxylic acid transporter 4)
17q25.3
Rare Single Gene variant
2
5
3
Pinto D , et al. 2010
Edit
GEN462
SLC16A7
Solute carrier family 16, member 7 (monocarboxylic acid transporter 2)
12q14.1
Rare single gene variant
2
4
4
Winiowiecka-Kowalnik B , et al. 2012
Edit
GEN231
SLC1A1
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
9p24.2
Genetic association
2
Yes
15
14
Brune CW , et al. 2009
Edit
GEN706
SLC1A2
Solute carrier family 1 (glial high affinity glutamate transporter), member 2
11p13
Multigenic CNV
2
26
10
Aida T , et al. 2015
Edit
GEN393
SLC22A15
Solute carrier family 22, member 15
1p13.1
Genetic association
1
1
Anney R , et al. 2012
Edit
GEN1052
SLC22A3
solute carrier family 22 member 3
6q25.3
Functional
0
1
4
Garbarino VR , et al. 2018
Edit
GEN809
SLC22A9
solute carrier family 22 member 9
11q12.3
Rare single gene variant
2
6
6
Sanders SJ , et al. 2012
Edit
GEN1331
SLC23A1
solute carrier family 23 member 1
5q31.2
Rare single gene variant
2
7
5
Iossifov I et al. 2014
Edit
GEN506
SLC24A2
solute carrier family 24 member 2
9p22.1
Rare single gene variant
2
3
4
Prasad A , et al. 2013
Edit
GEN232
SLC25A12
solute carrier family 25 (mitochondrial carrier, Aralar), member 12
2q31.1
Genetic Association
0
19
25
Ramoz N , et al. 2004
Edit
GEN463
SLC25A14
Solute carrier family 25 (mitochondrial carrier, brain), member 14
Xq26.1
Functional
2
2
3
Anitha A , et al. 2012
Edit
GEN464
SLC25A24
Solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
1p13.3
Functional
2
5
4
Anitha A , et al. 2012
Edit
GEN952
SLC25A39
solute carrier family 25 member 39
17q21.31
Rare single gene variant
2
12
3
Iossifov I , et al. 2012
Edit
GEN784
SLC27A4
Solute carrier family 27 (fatty acid transporter), member 4
9q34.11
Rare single gene variant, genetic association
2
5
3
Maekawa M , et al. 2015
Edit
GEN622
SLC29A4
solute carrier family 29 member 4
7p22.1
Rare single gene variant
2
5
2
Adamsen D , et al. 2014
Edit
GEN835
SLC30A3
solute carrier family 30 member 3
2p23.3
Functional
0
2
Yoo MH , et al. 2016
Edit
GEN233
SLC30A5
solute carrier family 30
5q13.1-q13.2
Rare Single Gene variant
2
3
5
O'Roak BJ , et al. 2011
Edit
GEN832
SLC33A1
solute carrier family 33 member 1
3q25.31
Functional
0
4
Hullinger R , et al. 2016
Edit
GEN575
SLC35A3
solute carrier family 35 member A3
1p21.2
Rare single gene variant
2
Yes
3
3
Edvardson S , et al. 2013
Edit
GEN908
SLC35B1
solute carrier family 35 member B1
17q21.33
Genetic association
2
1
Cantor RM , et al. 2017
Edit
GEN1406
SLC35G1
solute carrier family 35 member G1
10q23.33
Rare single gene variant
2
5
4
Wang J et al. 2023
Edit
GEN270
SLC38A10
solute carrier family 38, member 10
17q25.3
Rare Single Gene variant
2
5
3
Celestino-Soper PB , et al. 2011
Edit
GEN402
SLC39A11
solute carrier family 39 member 11
17q24.3-q25.1
Genetic association
2
2
2
Anney R , et al. 2012
Edit
GEN905
SLC45A1
solute carrier family 45 member 1
1p36.23
Rare single gene variant
2
Yes
7
5
Srour M , et al. 2017
Edit
GEN234
SLC4A10
solute carrier family 4, sodium bicarbonate transporter-like, member 10
2q24.2
Genetic Association
3
9
8
Sebat J , et al. 2007
Edit
GEN714
SLC6A1
Solute carrier family 6 (neurotransmitter transporter), member 1
3p25.3
Rare single gene variant
5
169
55
Sanders SJ , et al. 2012
Edit
GEN568
SLC6A3
Solute carrier family 6 (neurotransmitter transporter), member 3
5p15.33
Rare single gene variant
3
14
16
Hamilton PJ , et al. 2013
Edit
GEN235
SLC6A4
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
17q11.2
Genetic Association
2
51
31
Cook EH Jr , et al. 1997
Edit
GEN236
SLC6A8
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Xq28
Rare Single Gene variant
3
28
25
Po-Argelles P , et al. 2006
Edit
GEN744
SLC7A3
Solute carrier family 7 (cationic amino acid transporter, y+ system), member 3
Xq13.1
Rare single gene variant
2
4
2
Nava C , et al. 2015
Edit
GEN860
SLC7A5
solute carrier family 7 member 5
16q24.2
Functional/syndromic
2
Yes
10
6
Tafrlungeanu DC , et al. 2016
Edit
GEN957
SLC7A7
solute carrier family 7 member 7
14q11.2
Rare single gene variant
2
7
6
O'Roak BJ , et al. 2012
Edit
GEN237
SLC9A6
solute carrier family 9 (sodium/hydrogen exchanger), member 6
Xq26.3
Syndromic
2
36
22
Garbern JY , et al. 2010
Edit
GEN238
SLC9A9
solute carrier family 9 (sodium/hydrogen exchanger), member 9
3q24
Rare Single Gene variant
3
23
17
Morrow EM , et al. 2008
Edit
GEN704
SLCO1B3
Solute carrier organic anion transporter family, member 1B3
12p12.2
Rare single gene variant
3
21
6
De Rubeis S , et al. 2014
Edit
GEN1413
SLFN5
schlafen family member 5
17q12
Rare single gene variant
2
9
4
Cirnigliaro M et al. 2023
Edit
GEN597
SLIT3
slit guidance ligand 3
5q34-q35.1
Multigenic CNV
2
8
5
Cukier HN , et al. 2014
Edit
GEN1339
SLITRK2
SLIT and NTRK like family member 2
Xq27.3
Rare single gene variant
3
15
7
El Chehadeh S et al. 2022
Edit
GEN558
SLITRK5
SLIT and NTRK like family member 5
13q31.2
Functional
3
12
10
Shmelkov SV , et al. 2010
Edit
GEN916
SMAD4
SMAD family member 4
18q21.2
Rare single gene variant
3
12
9
Iossifov I et al. 2014
Edit
GEN731
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
9p24.3
Genetic association/functional
3
44
28
Wolff D , et al. 2012
Edit
GEN923
SMARCA4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
19p13.2
Syndromic
4
58
22
De Rubeis S , et al. 2014
Edit
GEN1282
SMARCC1
SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 1
3p21.31
Rare single gene variant
2
7
4
Wilfert AB et al. 2021
Edit
GEN732
SMARCC2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
12q13.2
Functional
4
87
18
Neale BM , et al. 2012
Edit
GEN913
SMC1A
structural maintenance of chromosomes 1A
Xp11.22
Syndromic
2
33
17
Huisman S , et al. 2017
Edit
GEN877
SMC3
structural maintenance of chromosomes 3
10q25.2
Syndromic
3
14
13
Iossifov I et al. 2014
Edit
GEN520
SMG6
SMG6, nonsense mediated mRNA decay factor
17p13.3
Multigenic CNV
3
9
4
Nguyen LS , et al. 2013
Edit
GEN1103
SMURF1
SMAD specific E3 ubiquitin protein ligase 1
7q22.1
Rare single gene variant
2
2
2
De Rubeis S , et al. 2014
Edit
GEN701
SNAP25
Synaptosomal-associated protein, 25kDa
20p12.2
Genetic association
0
10
10
Braida D , et al. 2015
Edit
GEN1414
SNCAIP
synuclein alpha interacting protein
5q23.2
Rare single gene variant
2
5
3
Cirnigliaro M et al. 2023
Edit
GEN239
SND1
staphylococcal nuclease and tudor domain containing 1
7q32.1
Genetic Association
2
4
10
Holt R , et al. 2010
Edit
GEN343
SNRPN
small nuclear ribonucleoprotein polypeptide N
15q11.2
Rare Single Gene variant
6
5
Talkowski ME , et al. 2012
Edit
GEN360
SNTG2
syntrophin gamma 2
2p25.3
Rare single gene variant
2
6
7
Rosenfeld JA , et al. 2010
Edit
GEN717
SNX14
Sorting nexin 14
6q14.3
Syndromic
2
27
9
Akizu N , et al. 2015
Edit
GEN466
SNX19
sorting nexin 19
11q24.3-q25
Rare single gene variant
0
3
3
Winiowiecka-Kowalnik B , et al. 2012
Edit
GEN1064
SNX5
sorting nexin 5
20p11.23
Rare single gene variant
2
4
5
Iossifov I et al. 2014
Edit
GEN604
SOD1
superoxide dismutase 1
21q22.11
Functional
2
3
3
Kova J , et al. 2013
Edit
GEN1139
SON
SONDNA binding protein
21q22.11
Rare single gene variant
4
85
24
Iossifov I et al. 2014
Edit
GEN1192
SORCS3
sortilin related VPS10 domain containing receptor 3
10q25.1
Rare single gene variant
0
6
6
Wu Y et al. 2020
Edit
GEN1283
SOS2
SOS Ras/Rho guanine nucleotide exchange factor 2
14q21.3
Syndromic
2
5
6
Wilfert AB et al. 2021
Edit
GEN366
SOX5
SRY-box 5
12p12.1
Rare single gene variant
4
80
22
Rosenfeld JA , et al. 2010
Edit
GEN1178
SOX6
SRY-box transcription factor 6
11p15.2
Syndromic
2
19
3
Tolchin D et al. 2020
Edit
GEN793
SPARCL1
SPARC like 1
4q22.1
Functional
2
15
5
De Rubeis S , et al. 2014
Edit
GEN348
SPAST
Spastin
2p22.3
Rare Single Gene variant
3
16
17
Talkowski ME , et al. 2012
Edit
GEN1061
SPEN
spenfamily transcriptional repressor
1p36.21-p36.13
Rare single gene variant
5
96
15
Iossifov I et al. 2014
Edit
GEN947
SPP2
secreted phosphoprotein 2
2q37.1
Rare single gene variant
2
5
4
Neale BM , et al. 2012
Edit
GEN1356
SPRY2
sprouty RTK signaling antagonist 2
13q31.1
Functional
3
3
3
Zhou X et al. 2022
Edit
GEN1244
SPTBN1
spectrin beta, non-erythrocytic 1
2p16.2
Rare single gene variant
4
55
11
Iossifov I et al. 2014
Edit
GEN871
SRCAP
Snf2 related CREBBP activator protein
16p11.2
Rare single gene variant
5
65
14
Iossifov I et al. 2014
Edit
GEN556
SRD5A2
steroid 5 alpha-reductase 2
2p23.1
Genetic association
2
2
3
Zettergren A , et al. 2013
Edit
GEN879
SRGAP3
SLIT-ROBO Rho GTPase activating protein 3
3p25.3
Rare single gene variant
3
8
6
Iossifov I et al. 2014
Edit
GEN1147
SRPRA
SRP receptor subunit alpha
11q24.2
Rare single gene variant
3
6
3
Iossifov I et al. 2014
Edit
GEN1338
SRRM2
serine/arginine repetitive matrix 2
16p13.3
Rare single gene variant
4
41
13
De Rubeis S , et al. 2014
Edit
GEN671
SRRM4
Serine/arginine repetitive matrix 4
12q24.23
Functional
2
3
7
Irimia M , et al. 2014
Edit
GEN1395
SRSF1
serine and arginine rich splicing factor 1
17q22
Rare single gene variant
2
19
4
Bogaert E et al. 2023
Edit
GEN886
SRSF11
serine and arginine rich splicing factor 11
1p31.1
Rare single gene variant
2
7
6
De Rubeis S , et al. 2014
Edit
GEN740
SSPOP
SCO-spondin, pseudogene
7q36.1
Rare single gene variant
2
13
7
Krumm N , et al. 2015
Edit
GEN977
SSRP1
structure specific recognition protein 1
11q12.1
Rare single gene variant
2
3
3
Iossifov I et al. 2014
Edit
GEN240
ST7
suppression of tumorigenicity 7
7q31.2
Rare Single Gene variant
2
5
4
Vincent JB , et al. 2000
Edit
GEN420
ST8SIA2
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
15q26.1
Genetic association
2
13
12
Anney R , et al. 2010
Edit
GEN863
STAG1
stromal antigen 1
3q22.3
Syndromic
3
25
10
Lehalle D , et al. 2017
Edit
GEN842
STAT1
signal transducer and activator of transcription 1
2q32.2
Rare single gene variant
2
1
2
Filiano AJ , et al. 2016
Edit
GEN241
STK39
serine threonine kinase 39 (STE20/SPS1 homolog, yeast)
2q24.3
Genetic Association
3
5
Ramoz N , et al. 2008
Edit
GEN600
STX1A
Syntaxin 1A (brain)
7q11.23
Genetic association
2
15
7
Nakamura K , et al. 2008
Edit
GEN390
STXBP1
Syntaxin binding protein 1
9q34.11
Syndromic
5
314
70
Campbell IM , et al. 2012
Edit
GEN598
STXBP5
Syntaxin binding protein 5 (tomosyn)
6q24.3
Rare single gene variant
3
20
7
Cukier HN , et al. 2014
Edit
GEN778
STYK1
Serine/threonine/tyrosine kinase 1
12p13.2
Genetic association
2
7
4
Kuo PH , et al. 2015
Edit
GEN242
SUCLG2
succinate-CoA ligase, GDP-forming, beta subunit
3p14.1
Rare Single Gene variant
2
6
6
Bucan M , et al. 2009
Edit
GEN1145
SUPT16H
SPT16 homolog, facilitates chromatin remodeling subunit
14q11.2
Rare single gene variant
2
9
8
Iossifov I et al. 2014
Edit
GEN504
SYAP1
Synapse associated protein 1
Xp22.2
Rare single gene variant
3
2
Prasad A , et al. 2013
Edit
GEN1175
SYBU
syntabulin
8q23.2
Rare single gene variant/Functional
2
1
1
Xiong GJ et al. 2020
Edit
GEN1213
SYCE1
synaptonemal complex central element protein 1
10q26.3
Rare single gene variant
2
7
3
Luo Y et al. 2020
Edit
GEN243
SYN1
Synapsin 1
Xp11.3-p11.23
Rare Single Gene variant
4
42
28
Fassio A , et al. 2011
Edit
GEN563
SYN2
Synapsin II
3p25.2
Genetic association
2
5
7
Corradi A , et al. 2013
Edit
GEN564
SYN3
Synapsin III
22q12.3
Functional
2
6
5
Greco B , et al. 2013
Edit
GEN1053
SYNCRIP
synaptotagmin binding cytoplasmic RNA interacting protein
6q14.3
Rare single gene variant
4
32
9
Krumm N , et al. 2015
Edit
GEN244
SYNE1
spectrin repeat containing, nuclear envelope 1
6q25.2
Rare Single Gene variant
3
46
23
O'Roak BJ , et al. 2011
Edit
GEN245
SYNGAP1
synaptic Ras GTPase activating protein 1
6p21.32
Rare Single Gene variant
5
233
98
Hamdan FF , et al. 2011
Edit
GEN929
SYNJ1
synaptojanin 1
21q22.11
Rare single gene variant
2
7
3
Lim ET , et al. 2017
Edit
GEN1184
SYP
synaptophysin
Xp11.23
Rare single gene variant
2
3
4
Satterstrom FK et al. 2020
Edit
GEN1034
SYT1
synaptotagmin 1
12q21.2
Rare single gene variant
3
31
8
De Rubeis S , et al. 2014
Edit
GEN246
SYT17
synaptotagmin XVII
16p12.3
Genetic Association
2
2
Wang K , et al. 2009
Edit
GEN341
SYT3
synaptotagmin 3
19q13.33
Rare Single Gene variant
2
4
3
Sato D , et al. 2012
Edit
GEN792
TAF1
TATA-box binding protein associated factor 1
Xq13.1
Rare single gene variant
3
66
17
O'Rawe JA , et al. 2015
Edit
GEN392
TAF1C
TATA-box binding protein associated factor, RNA polymerase I subunit C
16q24.1
Genetic association
2
3
3
Anney R , et al. 2012
Edit
GEN247
TAF1L
TAF1 RNA polymerase II
9p21.1
Rare Single Gene variant
2
9
6
O'Roak BJ , et al. 2011
Edit
GEN1353
TAF4
TATA-box binding protein associated factor 4
20q13.33
Rare single gene variant
4
17
5
Zhou X et al. 2022
Edit
GEN1277
TAF5
TATA-box binding protein associated factor 5
10q24.33
Rare single gene variant
2
7
3
Wilfert AB et al. 2021
Edit
GEN893
TAF6
TATA-box binding protein associated factor 6
7q22.1
Rare single gene variant
3
12
7
Iossifov I et al. 2014
Edit
GEN878
TANC2
etratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
17q23.2-q23.3
Rare single gene variant
4
42
16
Iossifov I et al. 2014
Edit
GEN1140
TAOK1
TAO kinase 1
17q11.2
Rare single gene variant
4
53
11
De Rubeis S , et al. 2014
Edit
GEN1006
TAOK2
TAO kinase 2
16p11.2
Rare single gene variant
4
25
8
C Yuen RK et al. 2017
Edit
GEN980
TBC1D23
TBC1 domain family member 23
3q12.1-q12.2
Syndromic
2
10
5
Marin-Valencia I , et al. 2017
Edit
GEN727
TBC1D31
TBC1 domain family, member 31
8q24.13
Rare single gene variant
3
7
7
Iossifov I et al. 2014
Edit
GEN248
TBC1D5
TBC1 domain family, member 5
3p24.3
Rare Single Gene variant
2
8
10
Pinto D , et al. 2010
Edit
GEN543
TBC1D7
TBC1 domain family member 7
6p24.1
Functional
3
5
Dibble CC , et al. 2012
Edit
GEN1371
TBCEL
tubulin folding cofactor E like
11q23.3
Rare single gene variant
3
3
3
Satterstrom FK et al. 2020
Edit
GEN1141
TBCK
TBC1 domain containing kinase
4q24
Syndromic
2
17
4
Bhoj EJ , et al. 2016
Edit
GEN301
TBL1X
transducin (beta)-like 1X-linked
Xp22.31-p22.2
Genetic Association
3
1
Chung RH , et al. 2011
Edit
GEN476
TBL1XR1
transducin beta like 1 X-linked receptor 1
3q26.32
Rare Single Gene variant
4
51
34
O'Roak BJ , et al. 2012
Edit
GEN477
TBR1
T-box, brain, 1
2q24.2
Rare Single Gene variant
5
79
42
O'Roak BJ , et al. 2012
Edit
GEN286
TBX1
T-box 1
22q11.21
Syndromic
2
4
7
Paylor R , et al. 2006
Edit
GEN1181
TBX22
T-box transcription factor 22
Xq21.1
Rare single gene variant
2
3
2
Iossifov I et al. 2014
Edit
GEN1367
TCEAL1
transcription elongation factor A like 1
Xq22.2
Rare single gene variant
2
9
2
Hijazi H et al. 2022
Edit
GEN633
TCF20
Transcription factor 20 (AR1)
22q13.2
Rare single gene variant
5
100
25
Babbs C , et al. 2014
Edit
GEN592
TCF4
Transcription factor 4
18q21.2
Syndromic
4
75
69
Van Balkom ID , et al. 2012
Edit
GEN652
TCF7L2
Transcription factor 7-like 2 (T-cell specific, HMG-box)
10q25.2-q25.3
Rare single gene variant
4
37
13
Iossifov I et al. 2014
Edit
GEN249
TDO2
tryptophan 2,3-dioxygenase
4q32.1
Genetic Association
5
4
Nabi R , et al. 2004
Edit
GEN933
TECTA
tectorin alpha
11q23.3
Rare single gene variant
3
12
9
Sanders SJ , et al. 2012
Edit
GEN1168
TEK
TEKreceptortyrosine kinase
9p21.2
Rare single gene variant
2
5
3
Satterstrom FK et al. 2020
Edit
GEN027
TERB2
telomere repeat binding bouquet formation protein 2
15q21.1
Rare Single Gene variant
1
1
Pinto D , et al. 2010
Edit
GEN757
TERF2
Telomeric repeat binding factor 2
16q22.1
Rare single gene variant
3
7
8
Iossifov I et al. 2014
Edit
GEN823
TERT
telomerase reverse transcriptase
5p15.33
Rare single gene variant
2
2
3
Kim KC , et al. 2015
Edit
GEN728
TET2
Tet methylcytosine dioxygenase 2
4q24
Rare single gene variant
3
9
7
Iossifov I et al. 2014
Edit
GEN1144
TET3
tet methylcytosine dioxygenase 3
2p13.1
Rare single gene variant
3
20
7
Beck DB , et al. 2020
Edit
GEN1179
TFB2M
transcription factor B2, mitochondrial
1q44
Rare single gene variant
Yes
1
1
Park CB et al. 2018
Edit
GEN1291
TFE3
transcription factor binding to IGHM enhancer 3
Xp11.23
Syndromic
3
21
5
Villegas F et al. 2019
Edit
GEN1415
TGM1
transglutaminase 1
14q12
Rare single gene variant
3
24
3
Cirnigliaro M et al. 2023
Edit
GEN250
TGM3
transglutaminase 3
20p13
Rare Single Gene variant
2
8
9
O'Roak BJ , et al. 2011
Edit
GEN251
TH
tyrosine hydroxylase
11p15.5
Genetic Association
2
8
21
Comings DE , et al. 1995
Edit
GEN638
THBS1
Thrombospondin 1
15q14
Genetic association/rare single gene variant
3
10
5
Lu L , et al. 2014
Edit
GEN421
THRA
thyroid hormone receptor alpha
17q21.1
Functional
2
3
5
Pilhatsch M , et al. 2010
Edit
GEN1380
TLE3
TLE family member 3, transcriptional corepressor
15q23
Rare single gene variant
3
5
5
Iossifov I et al. 2014
Edit
GEN252
TLK2
tousled-like kinase 2
17q23.2
Rare Single Gene variant
4
65
21
O'Roak BJ , et al. 2011
Edit
GEN959
TM4SF19
transmembrane 4 L six family member 19
3q29
Rare single gene variant
2
3
4
Iossifov I , et al. 2012
Edit
GEN566
TM4SF20
Transmembrane 4 L six family member 20
2q36.3
Rare single gene variant
2
18
4
Wiszniewski W , et al. 2013
Edit
GEN1152
TM9SF4
transmembrane 9 superfamily member 4
20q11.21
Rare single gene variant
2
3
4
De Rubeis S , et al. 2014
Edit
GEN1278
TMEM132D
transmembrane protein 132D
12q24.33
Genetic association/Functional
2
6
4
Wilfert AB et al. 2021
Edit
GEN1217
TMEM134
transmembrane protein 134
11q13.2
Rare single gene variant
2
3
3
Luo Y et al. 2020
Edit
GEN467
TMEM231
transmembrane protein 231
16q23.1
Syndromic
2
9
5
Srour M , et al. 2012
Edit
GEN1104
TMEM39B
transmembrane protein 39B
1p35.2
Rare single gene variant
2
4
5
De Rubeis S , et al. 2014
Edit
GEN269
TMLHE
trimethyllysine hydroxylase, epsilon
Xq28
Rare Single Gene variant
3
14
10
Celestino-Soper PB , et al. 2011
Edit
GEN295
TNIP2
TNFAIP3 interacting protein 2
4p16.3
Rare Single Gene variant
2
3
2
Salyakina D , et al. 2011
Edit
GEN697
TNN
tenascin N
1q25.1
Rare single gene variant
2
9
6
Li J , et al. 2015
Edit
GEN1262
TNPO2
transportin 2
19p13.13
Rare single gene variant
3
21
4
Goodman LD et al. 2021
Edit
GEN1355
TNPO3
transportin 3
7q32.1
Rare single gene variant
3
10
8
Zhou X et al. 2022
Edit
GEN653
TNRC6B
Trinucleotide repeat containing 6B
22q13.1
Rare single gene variant
4
56
17
Dong S , et al. 2014
Edit
GEN1299
TNRC6C
trinucleotide repeat containing adaptor 6C
17q25.3
Rare single gene variant
3
16
6
Iossifov I et al. 2014
Edit
GEN1216
TNS2
tensin 2
12q13.13
Rare single gene variant
2
8
4
Luo Y et al. 2020
Edit
GEN468
TOMM20
Translocase of outer mitochondrial membrane 20 homolog (yeast)
1q42.3
Functional
0
1
Anitha A , et al. 2012
Edit
GEN569
TOP1
Topoisomerase (DNA) I
20q12
Rare Single Gene variant
2
3
7
King IF , et al. 2013
Edit
GEN1354
TOP2B
DNA topoisomerase II beta
3p24.2
Functional
3
6
6
Zhou X et al. 2022
Edit
GEN561
TOP3B
Topoisomerase (DNA) III beta
22q11.22
Rare single gene variant
3
9
7
Xu D , et al. 2013
Edit
GEN1284
TP53BP1
tumor protein p53 binding protein 1
15q15.3
Rare single gene variant
3
6
4
Wilfert AB et al. 2021
Edit
GEN254
TPH2
tryptophan hydroxylase 2
12q21.1
Genetic Association
2
12
15
Coon H , et al. 2005
Edit
GEN381
TPO
Thyroid peroxidase
2p25.3
Genetic association
2
1
Ramos PS , et al. 2012
Edit
GEN1022
TRAF7
TNF receptor associated factor 7
16p13.3
Rare single gene variant
4
68
10
Neale BM , et al. 2012
Edit
GEN1218
TRAPPC2L
trafficking protein particle complex 2 like
16q24.3
Syndromic
2
9
4
Luo Y et al. 2020
Edit
GEN914
TRAPPC6B
trafficking protein particle complex 6B
14q21.1
Rare single gene variant
2
30
9
Marin-Valencia I , et al. 2017
Edit
GEN945
TRAPPC9
trafficking protein particle complex 9
8q24.3
Rare single gene variant
3
66
23
De Rubeis S , et al. 2014
Edit
GEN1162
TRIM23
tripartite motif containing 23
5q12.3
Rare single gene variant
3
6
8
De Rubeis S , et al. 2014
Edit
GEN1142
TRIM32
tripartite motif containing 32
9q33.1
Rare single gene variant/multigenic CNV
0
30
5
Zhu JW , et al. 2019
Edit
GEN584
TRIM33
Tripartite motif containing 33
1p13.2
Genetic association/Functional
0
5
2
Xia K , et al. 2013
Edit
GEN1400
TRIM8
tripartite motif containing 8
10q24.32
Rare single gene variant
4
20
5
Miyake N et al. 2023
Edit
GEN664
TRIO
Trio Rho guanine nucleotide exchange factor
5p15.2
Rare Single Gene variant
4
177
44
De Rubeis S , et al. 2014
Edit
GEN354
TRIP12
Thyroid hormone receptor interactor 12
2q36.3
Rare single gene variant
4
Yes
130
37
Chahrour MH , et al. 2012
Edit
GEN1366
TRPC5
transient receptor potential cation channel subfamily C member 5
Xq23
Rare single gene variant
2
8
7
de Ligt J , et al. 2012
Edit
GEN666
TRPC6
Transient receptor potential cation channel, subfamily C, member 6
11q22.1
Rare single gene variant/functional
3
19
6
Griesi-Oliveira K , et al. 2014
Edit
GEN513
TRPM1
transient receptor potential cation channel subfamily M member 1
15q13.3
Rare single gene variant
2
14
6
Girirajan S , et al. 2013
Edit
GEN1385
TRPM3
transient receptor potential cation channel subfamily M member 3
9q21.12
Rare single gene variant
3
37
14
Dyment DA et al. 2019
Edit
GEN1332
TRPM6
transient receptor potential cation channel subfamily M member 6
9q21.13
Rare single gene variant
3
13
6
Iossifov I et al. 2014
Edit
GEN1069
TRRAP
transformation/transcription domain associated protein
7q22.1
Rare single gene variant
4
61
14
Iossifov I et al. 2014
Edit
GEN255
TSC1
tuberous sclerosis 1
9q34.13
Rare Single Gene variant
4
53
35
Smalley SL 1998
Edit
GEN256
TSC2
tuberous sclerosis 2
16p13.3
Genetic Association
5
116
51
Smalley SL 1998
Edit
GEN1370
TSHZ1
teashirt zinc finger homeobox 1
18q22.3
Syndromic
3
9
6
C Yuen RK et al. 2017
Edit
GEN850
TSHZ3
teashirt zinc finger homeobox 3
19
Rare single gene variant
2
10
5
Caubit X , et al. 2016
Edit
GEN258
TSN
translin
2q14.3
Functional
0
3
Stein JM , et al. 2006
Edit
GEN950
TSPAN17
tetraspanin 17
5q35.2
Rare single gene variant
2
7
4
O'Roak BJ , et al. 2012
Edit
GEN1105
TSPAN4
tetraspanin 4
11p15.5
Rare single gene variant
2
4
4
Iossifov I et al. 2014
Edit
GEN259
TSPAN7
tetraspanin 7
Xp11.4
Rare Single Gene variant
2
9
9
Piton A , et al. 2010
Edit
GEN026
TSPOAP1
TSPO associated protein 1
17q22
Rare Single Gene variant
2
15
7
Bucan M , et al. 2009
Edit
GEN565
TTI2
TELO2 interacting protein 2
8p12
Syndromic
2
3
3
Langout M , et al. 2013
Edit
GEN260
TTN
titin
2q31.2
Rare Single Gene variant
4
162
31
O'Roak BJ , et al. 2011
Edit
GEN321
TUBGCP5
tubulin, gamma complex associated protein 5
15q11.2
Multigenic CNV
2
8
6
Leblond CS , et al. 2012
Edit
GEN422
TYR
tyrosinase
11q14.3
Functional
3
3
Hamilton SM , et al. 2010
Edit
GEN1422
U2AF2
U2 small nuclear RNA auxiliary factor 2
19q13.42
Rare single gene variant
3
52
7
et al.
Edit
GEN546
UBA6
Ubiquitin-like modifier activating enzyme 6
4q13.2
Functional
2
6
5
Lee PC , et al. 2013
Edit
GEN1360
UBAP2L
ubiquitin associated protein 2 like
1q21.3
Rare single gene variant
3
15
5
Iossifov I et al. 2014
Edit
GEN261
UBE2H
ubiquitin-conjugating enzyme E2H (UBC8 homolog, yeast)
7q32.2
Genetic Association
2
2
Vourc'h P , et al. 2003
Edit
GEN262
UBE3A
ubiquitin protein ligase E3A
15q11.2
Genetic Association
4
43
44
Nurmi EL , et al. 2001
Edit
GEN351
UBE3B
ubiquitin protein ligase E3B
12q24.11
Rare single gene variant
2
Yes
29
10
Chahrour MH , et al. 2012
Edit
GEN478
UBE3C
Ubiquitin protein ligase E3C
7q36.3
Rare Single Gene variant
2
7
6
O'Roak BJ , et al. 2012
Edit
GEN300
UBL7
ubiquitin-like 7 (bone marrow stromal cell-derived)
15q24.1
Rare Single Gene variant
1
1
Salyakina D , et al. 2011
Edit
GEN887
UBN2
ubinuclein 2
7q34
Rare single gene variant
3
25
5
Iossifov I et al. 2014
Edit
GEN1167
UBR1
ubiquitin protein ligase E3 component n-recognin 1
15q15.2
Rare single gene variant
2
2
3
Satterstrom FK et al. 2020
Edit
GEN469
UBR5
ubiquitin protein ligase E3 component n-recognin 5
8q22.3
Rare single gene variant
4
15
11
Kato T , et al. 2012
Edit
GEN275
UBR7
ubiquitin protein ligase E3 component n-recognin 7 (putative)
14q32.12
Rare Single Gene variant
2
Yes
4
3
Najmabadi H , et al. 2011
Edit
GEN845
UCN3
urocortin 3
10p15.1
Functional
0
1
Shemesh Y , et al. 2016
Edit
GEN1106
UIMC1
ubiquitin interaction motif containing 1
5q35.2
Rare single gene variant
3
28
6
Iossifov I et al. 2014
Edit
GEN869
UNC13A
unc-13 homolog A
19p13.11
Rare single gene variant
3
15
10
Lipstein N , et al. 2017
Edit
GEN1220
UNC5D
unc-5 netrin receptor D
8p12
Rare single gene variant
2
Yes
9
5
Schmitz-Abe K et al. 2020
Edit
GEN976
UNC79
unc-79 homolog, NALCN channel complex subunit
14q32.12
Rare single gene variant
4
22
9
Iossifov I et al. 2014
Edit
GEN873
UNC80
unc-80 homolog, NALCN activator
2q34
Rare single gene variant
3
22
12
Iossifov I et al. 2014
Edit
GEN509
UPB1
beta-ureidopropionase 1
22q11.23
Rare single gene variant
2
3
3
Prasad A , et al. 2013
Edit
GEN518
UPF2
UPF2, regulator of nonsense mediated mRNA decay
10p14
Multigenic CNV
3
13
10
Nguyen LS , et al. 2013
Edit
GEN364
UPF3B
UPF3B, regulator of nonsense mediated mRNA decay
Xq24
Syndromic
3
28
17
Tarpey PS , et al. 2007
Edit
GEN935
USH2A
usherin
1q41
Rare single gene variant
3
24
10
Neale BM , et al. 2012
Edit
GEN903
USP15
ubiquitin specific peptidase 15
12q14.1
Rare single gene variant
3
4
4
O'Roak BJ , et al. 2012
Edit
GEN1333
USP30
ubiquitin specific peptidase 30
12q24.11
Rare single gene variant
2
3
3
Iossifov I et al. 2014
Edit
GEN770
USP45
Ubiquitin specific peptidase 45
6q16.2
Rare single gene variant
2
7
6
Sanders SJ , et al. 2015
Edit
GEN758
USP7
Ubiquitin specific peptidase 7 (herpes virus-associated)
16p13.2
Rare single gene variant
2
36
13
Hao YH , et al. 2015
Edit
GEN1126
USP9X
ubiquitin specific peptidase 9 X-linked
Xp11.4
Syndromic
3
70
15
Homan CC , et al. 2014
Edit
GEN313
USP9Y
ubiquitin specific peptidase 9, Y-linked
Yq11.221
Genetic Association
2
2
2
Wang K , et al. 2009
Edit
GEN698
UTRN
utrophin
6q24.2
Rare single gene variant
3
16
7
Li J , et al. 2015
Edit
GEN1082
VAMP2
vesicle associated membrane protein 2
17p13.1
Rare single gene variant
2
8
4
Salpietro V , et al. 2019
Edit
GEN263
VASH1
vasohibin 1
14q24.3
Genetic Association
2
4
Wang K , et al. 2009
Edit
GEN1418
VCP
valosin containing protein
9p13.3
Rare single gene variant
3
16
4
et al.
Edit
GEN1051
VDR
vitamin D receptor
12q13.11
Genetic association
12
10
Schmidt RJ , et al. 2015
Edit
GEN1157
VEZF1
vascular endothelial zinc finger 1
17q22
Rare single gene variant
2
2
3
De Rubeis S , et al. 2014
Edit
GEN665
VIL1
Villin 1
2q35
Rare single gene variant
2
19
4
De Rubeis S , et al. 2014
Edit
GEN554
VIP
vasoactive intestinal peptide
6q25.2
Functional
2
3
7
Hill JM , et al. 2007
Edit
GEN787
VLDLR
Very low density lipoprotein receptor
9p24.2
Functional
2
8
6
Fatemi SH , et al. 2005
Edit
GEN281
VPS13B
vacuolar protein sorting 13 homolog B (yeast)
8q22.2
Syndromic
4
Yes
85
29
Kolehmainen J , et al. 2003
Edit
GEN1416
VPS54
VPS54subunit of GARP complex
2p15-p14
Rare single gene variant
2
4
3
Cirnigliaro M et al. 2023
Edit
GEN978
VRK3
vaccinia related kinase 3
19q13.33
Functional
1
2
Kang MS , et al. 2017
Edit
GEN751
VSIG4
V-set and immunoglobulin domain containing 4
Xq12
Rare single gene variant
2
3
3
Lim ET , et al. 2013
Edit
GEN1211
VWA7
von Willebrand factor A domain containing 7
6p21.33
Rare single gene variant
2
9
3
Luo Y et al. 2020
Edit
GEN654
WAC
WW domain containing adaptor with coiled-coil
10p12.1
Syndromic
4
67
29
Iossifov I et al. 2014
Edit
GEN1021
WASF1
WAS protein family member 1
6q21
Syndromic
2
12
4
Ito Y , et al. 2018
Edit
GEN635
WDFY3
WD repeat and FYVE domain containing 3
4q21.23
Rare Single Gene variant
5
75
24
Iossifov I , et al. 2012
Edit
GEN1065
WDFY4
WDFY family member 4
10q11.23
Rare single gene variant
3
16
11
Iossifov I et al. 2014
Edit
GEN918
WDR26
WD repeat domain 26
1q42.11-q42.12
Rare single gene variant
3
32
9
Skraban CM , et al. 2017
Edit
GEN1424
WDR37
WD repeat domain 37
10p15.3
Rare single gene variant
2
15
6
et al.
Edit
GEN1368
WDR5
WD repeat domain 5
9q34.2
Rare single gene variant
2
14
3
Snijders Blok L et al. 2022
Edit
GEN699
WDR93
WD repeat domain 93
15q26.1
Rare single gene variant
0
Yes
3
3
Alazami AM , et al. 2015
Edit
GEN264
WNK3
WNK lysine deficient protein kinase 3
Xp11.22
Rare Single Gene variant
2
3
7
Piton A , et al. 2010
Edit
GEN572
WNT1
Wingless-type MMTV integration site family, member 1
12q13.12
Genetic association
2
5
6
Martin PM , et al. 2013
Edit
GEN265
WNT2
wingless-type MMTV integration site family member 2
7q31.2
Genetic Association
0
15
11
Wassink TH , et al. 2001
Edit
GEN851
WWOX
WW domain containing oxidoreductase
16
Rare single gene variant
2
40
13
Leppa VM , et al. 2016
Edit
GEN1197
WWP1
WW domain containing E3 ubiquitin protein ligase 1
8q21.3
Rare single gene variant
2
10
2
Novelli G et al. 2020
Edit
GEN266
XIRP1
xin actin-binding repeat containing 1
3p22.2
Rare Single Gene variant
3
14
11
O'Roak BJ , et al. 2011
Edit
GEN267
XPC
xeroderma pigmentosum, complementation group C
3p25.1
Rare Single Gene variant
2
8
12
Khan SG , et al. 1998
Edit
GEN377
XPO1
exportin 1
2p15
Genetic association
2
10
8
Liu X , et al. 2011
Edit
GEN1188
XRCC6
X-ray repair cross complementing 6
22q13.2
Rare single gene variant
2
5
2
Sjaarda CP et al. 2020
Edit
GEN397
YEATS2
YEATS domain containing 2
3q27.1
Genetic association
3
7
4
Anney R , et al. 2012
Edit
GEN339
YTHDC2
YTH domain containing 2
5q22.2
Rare Single Gene variant
3
10
7
O'Roak BJ , et al. 2012
Edit
GEN501
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon
17p13.3
Multigenic CNV
3
5
Prasad A , et al. 2013
Edit
GEN1146
YWHAG
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma
7q11.23
Syndromic
2
18
12
De Rubeis S , et al. 2014
Edit
GEN1335
YWHAZ
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
8q22.3
Genetic association
3
18
16
Toma C , et al. 2013
Edit
GEN910
YY1
YY1transcription factor
14q32.2
Functional
3
40
9
Gabriele M , et al. 2017
Edit
GEN401
ZBTB16
Zinc finger and BTB domain containing 16
11q23.2
Genetic association
2
2
3
Anney R , et al. 2012
Edit
GEN1387
ZBTB18
zinc finger and BTB domain containing 18
1q44
Rare single gene variant
3
29
12
Feliciano P et al. 2019
Edit
GEN619
ZBTB20
Zinc finger and BTB domain containing 20
3q13.31
Multigenic CNV
4
69
29
Cordeddu V , et al. 2014
Edit
GEN1377
ZBTB21
zinc finger and BTB domain containing 21
21q22.3
Rare single gene variant
3
4
4
Iossifov I et al. 2014
Edit
GEN1417
ZBTB47
zinc finger and BTB domain containing 47
3p22.1
Rare single gene variant
2
U
5
1
et al.
Edit
GEN1287
ZBTB7A
zinc finger and BTB domain containing 7A
19p13.3
Syndromic
3
13
2
von der Lippe C et al. 2022
Edit
GEN1115
ZC3H11A
zinc finger CCCH-type containing 11A
1q32.1
Rare single gene variant
2
4
4
De Rubeis S , et al. 2014
Edit
GEN875
ZC3H4
zinc finger CCCH-type containing 4
19q13.32
Rare single gene variant
3
27
6
Iossifov I et al. 2014
Edit
GEN1116
ZFYVE26
zinc finger FYVE-type containing 26
14q24.1
Rare single gene variant
3
9
7
De Rubeis S , et al. 2014
Edit
GEN1143
ZMIZ1
zinc finger MIZ-type containing 1
10q22.3
Syndromic
3
27
11
Liu Y , et al. 2018
Edit
GEN1226
ZMYM2
zinc finger MYM-type containing 2
13q12.11
Rare single gene variant
3
46
10
Connaughton DM et al. 2020
Edit
GEN1383
ZMYM3
zinc finger MYM-type containing 3
Xq13.1
Syndromic
3
29
8
Hiatt SM et al. 2023
Edit
GEN641
ZMYND11
Zinc finger, MYND-type containing 11
10p15.3
Rare single gene variant
4
53
14
Iossifov I , et al. 2012
Edit
GEN1159
ZMYND8
zinc finger MYND-type containing 8
20q13.12
Rare single gene variant
4
20
8
Iossifov I et al. 2014
Edit
GEN352
ZNF18
zinc finger protein 18
17p12
Rare single gene variant
2
Yes
7
2
Chahrour MH , et al. 2012
Edit
GEN854
ZNF292
zinc finger protein 292
6q14.3
Rare single gene variant
4
50
11
Neale BM , et al. 2012
Edit
GEN602
ZNF385B
Zinc finger protein 385B
2q31.2-q31.3
Genetic association
2
8
3
Maestrini E , et al. 2009
Edit
GEN484
ZNF407
zinc finger protein 407
18q22.3
Rare Single Gene variant
2
24
8
Ren CM , et al. 2012
Edit
GEN729
ZNF462
Zinc finger protein 462
9q31.2
Rare single gene variant
4
35
12
De Rubeis S , et al. 2014
Edit
GEN499
ZNF517
Zinc finger protein 517
8q24.3
Rare single gene variant
2
7
5
Prasad A , et al. 2013
Edit
GEN965
ZNF548
zinc finger protein 548
19q13.43
Rare single gene variant
2
11
4
Krumm N , et al. 2015
Edit
GEN773
ZNF559
Zinc finger protein 559
19p13.2
Rare single gene variant
3
33
9
Sanders SJ , et al. 2015
Edit
GEN944
ZNF626
zinc finger protein 626
19p12
Rare single gene variant
2
28
4
Krumm N , et al. 2015
Edit
GEN1285
ZNF638
zinc finger protein 638
2p13.2
Rare single gene variant
3
8
4
Wilfert AB et al. 2021
Edit
GEN1297
ZNF711
zinc finger protein 711
Xq21.1
Rare single gene variant
2
10
5
van der Werf IM et al. 2017
Edit
GEN634
ZNF713
Zinc finger protein 713
7p11.2
Rare single gene variant
2
4
3
Metsu S , et al. 2014
Edit
GEN705
ZNF774
Zinc finger protein 774
15q26.1
Rare single gene variant
2
15
4
De Rubeis S , et al. 2014
Edit
GEN618
ZNF804A
Zinc finger protein 804A
2q32.1
Genetic association
2
24
16
Anitha A , et al. 2014
Edit
GEN398
ZNF827
Zinc finger protein 827
4q31.21-q31.22
Genetic association
2
4
3
Anney R , et al. 2012
Edit
GEN293
ZSWIM5
zinc finger, SWIM-type containing 5
1p34.1
Rare Single Gene variant
2
4
3
Salyakina D , et al. 2011
Edit
GEN990
ZSWIM6
zinc finger SWIM-type containing 6
5q12.1
Syndromic
3
12
6
Palmer EE , et al. 2017
Edit
GEN798
ZWILCH
zwilchkinetochore protein
15q22.31
Rare single gene variant
2
6
5
Iossifov I et al. 2014
Edit
CNV Search Results
Download CNV
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
10
10p11.1
Deletion-Duplication
3
10
10p11.1-q11.1
Deletion-Duplication
1
10
10p11.1-q11.21
Duplication
1
10
10p11.21
Deletion-Duplication
16
10
10p11.21-p11.1
Deletion-Duplication
2
10
10p11.22
Duplication
7
10
10p11.23
Deletion-Duplication
7
10
10p11.23-p11.22
Deletion
2
10
10p12.1
Deletion-Duplication
17
10
10p12.1-p11.21
Duplication
1
10
10p12.1-p11.23
Deletion-Duplication
2
10
10p12.2
Deletion
2
10
10p12.31
Deletion-Duplication
9
10
10p12.31-p11.22
Deletion
2
10
10p12.33
Deletion-Duplication
9
10
10p12.33-p12.1
Deletion
1
10
10p12.33-p12.32
Deletion
3
10
10p13
Deletion-Duplication
18
10
10p14
Deletion-Duplication
14
10
10p14-p12.31
Deletion-Duplication
1
10
10p15.1
Deletion-Duplication
14
10
10p15.1-p12.33
Deletion
1
10
10p15.1-p13
Deletion
1
10
10p15.1-p14
Deletion
4
10
10p15.2
Deletion
7
10
10p15.2-p15.1
Duplication
1
10
10p15.3
Deletion-Duplication
23
10
10p15.3-p11.23
Duplication
2
10
10p15.3-p12.2
Duplication
1
10
10p15.3-p12.31
Duplication
1
10
10p15.3-p12.33
Duplication
1
10
10p15.3-p13
Deletion
2
10
10p15.3-p14
Deletion-Duplication
3
10
10p15.3-p15.1
Deletion
4
10
10p15.3-p15.2
Duplication
6
10
10pter-p15.3
Deletion
1
10
10q11.1
Deletion-Duplication
1
10
10q11.1-q11.21
Duplication
2
10
10q11.21
Deletion-Duplication
14
10
10q11.21-q11.22
Duplication
4
10
10q11.21-q11.23
Duplication
4
10
10q11.21-q21.2
Deletion
1
10
10q11.22
Deletion-Duplication
23
10
10q11.22-q11.23
Duplication
17
10
10q11.23
Deletion-Duplication
13
10
10q11.23-q21.1
Duplication
5
10
10q11.23-q21.2
Duplication
3
10
10q21.1
Deletion-Duplication
28
10
10q21.1-q22.2
Deletion
1
10
10q21.1-q26.13
Duplication
1
10
10q21.2
Deletion-Duplication
5
10
10q21.2-q21.3
Deletion
2
10
10q21.2-q22.2
Deletion
1
10
10q21.3
Deletion-Duplication
44
10
10q21.3-q22.1
Duplication
2
10
10q22.1
Deletion
9
10
10q22.1-q22.2
Deletion
1
10
10q22.1-q22.3
Deletion
1
10
10q22.2
Deletion-Duplication
11
10
10q22.2-q22.3
Deletion
2
10
10q22.3
Deletion-Duplication
16
10
10q22.3-q23.1
Deletion
1
10
10q22.3-q23.2
Deletion-Duplication
5
10
10q22.3-q23.31
Deletion
1
10
10q23.1
Deletion-Duplication
25
10
10q23.1-q23.31
Deletion
2
10
10q23.2
Deletion
10
10
10q23.2-q23.31
Deletion
1
10
10q23.31
Deletion
8
10
10q23.31-q23.32
Duplication
1
10
10q23.31-q26.3
Duplication
1
10
10q23.32
Deletion
3
10
10q23.32-q23.33
Duplication
2
10
10q23.33
Deletion-Duplication
15
10
10q23.33-q24.1
Deletion
1
10
10q23.33-q24.2
Deletion
1
10
10q23.33-q24.32
Deletion
1
10
10q23.33-q25.3
Duplication
1
10
10q24.1
Duplication
7
10
10q24.2
Deletion
11
10
10q24.2-q24.31
Duplication
1
10
10q24.2-q26.3
Duplication
2
10
10q24.31
Deletion
1
10
10q24.31-q24.32
Duplication
2
10
10q24.32
Deletion-Duplication
12
10
10q24.32-q24.33
Deletion
1
10
10q24.33
Duplication
6
10
10q24.33-q26.3
Duplication
1
10
10q25.1
Deletion-Duplication
10
10
10q25.1-q26.11
Deletion
1
10
10q25.1-q26.3
Duplication
2
10
10q25.2
Deletion-Duplication
6
10
10q25.2-q26.3
Duplication
1
10
10q25.2-qter
Duplication
1
10
10q25.3
Deletion-Duplication
13
10
10q26.11
Deletion-Duplication
7
10
10q26.11-q26.13
Duplication
1
10
10q26.11-q26.3
Deletion
4
10
10q26.12
Deletion-Duplication
7
10
10q26.12-q26.3
Deletion
2
10
10q26.13
Deletion-Duplication
10
10
10q26.13-q26.2
Deletion
1
10
10q26.13-q26.3
Deletion
6
10
10q26.2
Deletion-Duplication
10
10
10q26.2-q26.3
Deletion-Duplication
16
10
10q26.3
Deletion-Duplication
43
11
11p11.11
Deletion-Duplication
1
11
11p11.12
Deletion-Duplication
13
11
11p11.12-p11.11
Deletion
1
11
11p11.2
Deletion-Duplication
15
11
11p11.2-p11.12
Deletion-Duplication
4
11
11p11.2-q11
Duplication
1
11
11p12
Deletion-Duplication
15
11
11p12-p11.2
Deletion
2
11
11p13
Deletion-Duplication
29
11
11p13-p11.2
Deletion
2
11
11p13-p12
Deletion-Duplication
4
11
11p14.1
Deletion-Duplication
5
11
11p14.1-p11.2
Deletion
1
11
11p14.1-p12
Deletion
3
11
11p14.1-p13
Deletion
4
11
11p14.2
Deletion
2
11
11p14.2-p12
Deletion
1
11
11p14.2-p13
Deletion
1
11
11p14.2-p14.1
Duplication
1
11
11p14.3
Deletion-Duplication
18
11
11p14.3-p11.2
Deletion
1
11
11p14.3-p12
Deletion
2
11
11p14.3-p13
Deletion
2
11
11p14.3-p14.1
Deletion
1
11
11p14.3-p14.2
Duplication
4
11
11p15.1
Deletion-Duplication
20
11
11p15.1-p11.2
Deletion
1
11
11p15.1-p12
Deletion
1
11
11p15.1-p13
Deletion
1
11
11p15.2
Duplication
11
11
11p15.2-p15.1
Deletion
2
11
11p15.3
Deletion-Duplication
5
11
11p15.3-p15.2
Duplication
1
11
11p15.4
Deletion-Duplication
34
11
11p15.5
Deletion-Duplication
23
11
11p15.5-p13
Duplication
1
11
11p15.5-p15.4
Duplication
1
11
11q11
Deletion-Duplication
18
11
11q11-q12.1
Deletion
3
11
11q12.1
Deletion-Duplication
11
11
11q12.1-q12.2
Duplication
5
11
11q12.2
Deletion-Duplication
7
11
11q12.3
Deletion-Duplication
11
11
11q12.3-q13.1
Deletion
1
11
11q13
Deletion
1
11
11q13.1
Deletion
12
11
11q13.1-q13.2
Deletion-Duplication
1
11
11q13.2
Deletion-Duplication
18
11
11q13.2-q13.3
Deletion
1
11
11q13.2-q13.4
Deletion
2
11
11q13.2-q25
Duplication
1
11
11q13.3
Deletion
7
11
11q13.3-q13.4
Duplication
3
11
11q13.4
Deletion-Duplication
17
11
11q13.4-q13.5
Deletion
1
11
11q13.4-q14.1
Deletion
1
11
11q13.5
Duplication
7
11
11q14
Deletion
1
11
11q14.1
Deletion-Duplication
34
11
11q14.1-q14.2
Duplication
2
11
11q14.1-q22.2
Deletion
1
11
11q14.1-q22.3
Deletion
1
11
11q14.2
Deletion-Duplication
10
11
11q14.2-q14.3
Deletion
3
11
11q14.3
Deletion-Duplication
9
11
11q21
Deletion-Duplication
11
11
11q21-q22.1
Deletion-Duplication
2
11
11q21-q22.3
Deletion
1
11
11q22.1
Deletion-Duplication
18
11
11q22.1-q22.2
Duplication
1
11
11q22.1-q25
Duplication
1
11
11q22.2
Deletion-Duplication
4
11
11q22.3
Deletion-Duplication
26
11
11q22.3-q23.1
Deletion
1
11
11q23.1
Deletion-Duplication
5
11
11q23.2
Deletion
3
11
11q23.2-q23.3
Duplication
2
11
11q23.3
Deletion-Duplication
19
11
11q23.3-q24.1
Duplication
1
11
11q23.3-q25
Deletion
8
11
11q24.1
Deletion-Duplication
6
11
11q24.1-q24.2
Deletion
1
11
11q24.1-q24.3
Duplication
1
11
11q24.1-q25
Deletion-Duplication
4
11
11q24.2
Deletion-Duplication
13
11
11q24.2-q24.3
Deletion
2
11
11q24.2-q25
Deletion
9
11
11q24.3
Deletion-Duplication
11
11
11q24.3-q25
Deletion
9
11
11q25
Deletion-Duplication
23
12
12p11.1
Deletion-Duplication
11
12
12p11.1-q12
Duplication
1
12
12p11.21
Deletion-Duplication
9
12
12p11.21-p11.1
Duplication
1
12
12p11.21-q11
Deletion
1
12
12p11.22
Deletion-Duplication
10
12
12p11.22-p11.21
Deletion
3
12
12p11.23
Duplication
9
12
12p12.1
Deletion-Duplication
15
12
12p12.1-p11.1
Deletion
1
12
12p12.1-p11.21
Deletion
1
12
12p12.1-p11.22
Deletion
2
12
12p12.1-p11.23
Deletion
1
12
12p12.2
Deletion-Duplication
10
12
12p12.2-p11.23
Deletion
1
12
12p12.2-p12.1
Deletion
11
12
12p12.3
Deletion-Duplication
18
12
12p12.3-p11.22
Deletion
4
12
12p12.3-p11.23
Deletion
2
12
12p12.3-p12.1
Duplication
1
12
12p13.1
Deletion
11
12
12p13.1-p11.23
Deletion
1
12
12p13.1-p12.1
Deletion
1
12
12p13.1-p12.3
Deletion
1
12
12p13.2
Deletion-Duplication
15
12
12p13.2-p12.3
Deletion
1
12
12p13.2-p13.1
Deletion
4
12
12p13.31
Deletion-Duplication
27
12
12p13.32
Deletion-Duplication
12
12
12p13.32-p13.31
Duplication
1
12
12p13.33
Deletion-Duplication
36
12
12p13.33-p11.1
Duplication
4
12
12p13.33-p11.22
Deletion
1
12
12p13.33-p12.1
Duplication
1
12
12p13.33-p12.2
Duplication
1
12
12p13.33-p13.31
Duplication
2
12
12p13.33-p13.32
Deletion
7
12
12p13.33-q12
Duplication
1
12
12q11
Deletion-Duplication
3
12
12q11-q12
Duplication
3
12
12q11-q13.11
Duplication
1
12
12q12
Deletion-Duplication
20
12
12q12-q13.11
Deletion
2
12
12q12-q24.33
Duplication
1
12
12q13.11
Deletion-Duplication
7
12
12q13.12
Deletion-Duplication
8
12
12q13.12-q13.13
Duplication
1
12
12q13.13
Deletion-Duplication
16
12
12q13.13-q13.2
Deletion
1
12
12q13.2
Deletion
7
12
12q13.2-q13.3
Duplication
3
12
12q13.2-q14.1
Duplication
2
12
12q13.3
Deletion-Duplication
9
12
12q13.3-q14.1
Deletion
3
12
12q13.3-q14.2
Deletion
2
12
12q13.3-q14.3
Deletion
1
12
12q13.3-q15
Deletion
1
12
12q14.1
Deletion-Duplication
13
12
12q14.1-q14.2
Duplication
1
12
12q14.2
Deletion-Duplication
7
12
12q14.2-q15
Deletion
1
12
12q14.3
Deletion-Duplication
9
12
12q14.3-q15
Deletion
2
12
12q15
Deletion-Duplication
10
12
12q15-q21.1
Deletion
1
12
12q15-q21.2
Duplication
3
12
12q15-q21.31
Deletion
1
12
12q21.1
Deletion-Duplication
11
12
12q21.1-q21.2
Duplication
2
12
12q21.2
Deletion-Duplication
10
12
12q21.2-q21.31
Duplication
6
12
12q21.31
Deletion-Duplication
17
12
12q21.31-q21.32
Duplication
1
12
12q21.31-q21.33
Deletion
2
12
12q21.32
Deletion-Duplication
6
12
12q21.32-q22
Deletion
1
12
12q21.33
Deletion-Duplication
9
12
12q22
Deletion-Duplication
7
12
12q22-q23.1
Duplication
1
12
12q23.1
Deletion-Duplication
19
12
12q23.1-q23.2
Duplication
1
12
12q23.1-q24.11
Deletion
1
12
12q23.2
Deletion-Duplication
8
12
12q23.3
Deletion-Duplication
9
12
12q23.3-q24.12
Deletion
1
12
12q23.3-q24.13
Deletion
1
12
12q24.11
Deletion-Duplication
11
12
12q24.12
Deletion-Duplication
8
12
12q24.12-q24.13
Duplication
5
12
12q24.13
Deletion
7
12
12q24.13-q24.21
Duplication
3
12
12q24.21
Deletion-Duplication
10
12
12q24.21-q24.22
Duplication
2
12
12q24.21-q24.23
Duplication
1
12
12q24.21-q24.33
Duplication
3
12
12q24.22
Duplication
6
12
12q24.22-q24.23
Duplication
1
12
12q24.23
Deletion-Duplication
5
12
12q24.23-q24.31
Duplication
1
12
12q24.23-q24.33
Duplication
1
12
12q24.31
Deletion-Duplication
26
12
12q24.31-q24.32
Duplication
1
12
12q24.31-q24.33
Deletion-Duplication
2
12
12q24.32
Deletion-Duplication
10
12
12q24.32-q24.33
Duplication
4
12
12q24.33
Deletion-Duplication
31
12
12q25.32
Deletion
1
13
13q11
Deletion-Duplication
2
13
13q11-q12.11
Duplication
3
13
13q11-q13.3
Duplication
1
13
13q11-q21.1
Deletion
1
13
13q11-q34
Duplication
1
13
13q12.11
Deletion-Duplication
20
13
13q12.11-q12.12
Deletion-Duplication
3
13
13q12.11-q12.3
Duplication
2
13
13q12.11-q21.1
N/A
1
13
13q12.11-q21.2
Deletion
1
13
13q12.11-q34
Duplication
2
13
13q12.12
Deletion-Duplication
24
13
13q12.12-q12.13
Duplication
1
13
13q12.13
Deletion
8
13
13q12.2
Duplication
1
13
13q12.3
Deletion-Duplication
6
13
13q12.3-q13.1
Deletion
2
13
13q12.3-q13.2
Deletion
2
13
13q12.3-q21.33
Deletion
1
13
13q12.3-q31.1
Duplication
1
13
13q12.3-q31.3
Duplication
1
13
13q13.1
Deletion
6
13
13q13.1-q13.2
Duplication
2
13
13q13.2
Deletion-Duplication
6
13
13q13.2-q13.3
Duplication
2
13
13q13.2-q34
Duplication
1
13
13q13.3
Deletion
13
13
13q13.3-q14.11
Deletion
1
13
13q13.3-q14.2
Deletion
1
13
13q13.3-q21.2
Deletion
1
13
13q14.11
Deletion-Duplication
18
13
13q14.11-q14.12
Deletion
1
13
13q14.11-q14.3
Deletion
1
13
13q14.11-q34
Duplication
1
13
13q14.12
Deletion
3
13
13q14.12-q14.13
Deletion
1
13
13q14.12-q14.2
Deletion
1
13
13q14.12-q31.3
Deletion
1
13
13q14.13
Deletion
1
13
13q14.13-q14.2
Duplication
1
13
13q14.2
Deletion-Duplication
13
13
13q14.2-q14.3
Deletion
1
13
13q14.2-q21.2
Deletion
1
13
13q14.3
Deletion-Duplication
11
13
13q14.3-q21.1
Duplication
1
13
13q14.3-q21.31
Deletion
1
13
13q21.1
Deletion-Duplication
18
13
13q21.1-q21.2
Deletion
1
13
13q21.1-q34
N/A
1
13
13q21.2
Deletion-Duplication
11
13
13q21.31
Deletion-Duplication
12
13
13q21.31-q21.32
Duplication
2
13
13q21.31-q31.3
Deletion
1
13
13q21.32
Deletion-Duplication
15
13
13q21.33
Deletion-Duplication
9
13
13q21.33-q31.1
Duplication
2
13
13q22.1
Deletion
6
13
13q22.1-q34
Duplication
1
13
13q22.2
Deletion-Duplication
4
13
13q22.2-q31.3
Deletion
1
13
13q22.3
Deletion
3
13
13q22.3-q31.1
Duplication
1
13
13q31.1
Deletion-Duplication
15
13
13q31.1-q32.1
Deletion
1
13
13q31.1-q33.2
Duplication
1
13
13q31.1-q34
Deletion-Duplication
1
13
13q31.2
Deletion-Duplication
7
13
13q31.2-q31.3
Duplication
6
13
13q31.2-q32.1
Deletion
1
13
13q31.2-q32.3
Deletion
1
13
13q31.3
Deletion-Duplication
15
13
13q31.3-q32.1
Deletion-Duplication
2
13
13q31.3-q32.3
Duplication
1
13
13q31.3-q33.1
Duplication
1
13
13q31.3-q34
Deletion
1
13
13q32.1
Deletion-Duplication
10
13
13q32.1-q32.2
Deletion
1
13
13q32.1-q32.3
Duplication
1
13
13q32.1-q33.3
Deletion
1
13
13q32.2
Deletion
2
13
13q32.2-q32.3
Deletion-Duplication
4
13
13q32.2-q33.1
Deletion
1
13
13q32.3
Deletion
4
13
13q32.3-q33.1
Deletion-Duplication
1
13
13q32.3-q33.3
Duplication
1
13
13q32.3-q34
Deletion-Duplication
2
13
13q33.1
Deletion-Duplication
8
13
13q33.1-q33.2
Deletion
2
13
13q33.1-q34
Deletion
6
13
13q33.2
Deletion-Duplication
7
13
13q33.2-q34
Deletion-Duplication
2
13
13q33.3
Deletion-Duplication
2
13
13q33.3-q34
Deletion-Duplication
3
13
13q33.3-qter
Deletion
1
13
13q34
Deletion-Duplication
24
14
14p13-q12
Duplication
1
14
14q11.1
Deletion-Duplication
1
14
14q11.1-q11.2
Deletion-Duplication
5
14
14q11.2
Deletion-Duplication
51
14
14q11.2-q12
Duplication
4
14
14q11.2-q21.1
Duplication
1
14
14q11.2-q21.2
Deletion
2
14
14q11.2-q21.3
Deletion
1
14
14q12
Deletion-Duplication
21
14
14q12-q13.3
Deletion
1
14
14q12-q21.3
Duplication
1
14
14q13.1
Deletion-Duplication
8
14
14q13.1-q13.3
Deletion
1
14
14q13.1-q21.1
Deletion
1
14
14q13.11
Deletion
1
14
14q13.2
Deletion-Duplication
9
14
14q13.3
Deletion-Duplication
4
14
14q13.3-q21.1
Deletion
2
14
14q21.1
Deletion-Duplication
13
14
14q21.1-q21.2
Deletion
1
14
14q21.2
Deletion-Duplication
12
14
14q21.2-q21.3
Deletion-Duplication
5
14
14q21.3
Deletion-Duplication
14
14
14q21.3-q22.1
Deletion
1
14
14q22.1
Deletion-Duplication
6
14
14q22.1-q22.3
Deletion
1
14
14q22.1-q23.1
Deletion
1
14
14q22.2
Deletion
7
14
14q22.2-q22.3
Deletion
2
14
14q22.3
Deletion
5
14
14q23.1
Deletion-Duplication
8
14
14q23.1-q23.3
Deletion
1
14
14q23.2
Deletion-Duplication
16
14
14q23.2-q23.3
Deletion
4
14
14q23.3
Deletion-Duplication
18
14
14q23.3-q24.1
Duplication
2
14
14q24.1
Deletion-Duplication
7
14
14q24.2
Deletion-Duplication
10
14
14q24.2-q24.3
Duplication
3
14
14q24.2-q32.2
Duplication
1
14
14q24.3
Deletion-Duplication
19
14
14q24.3-q31.1
Deletion
7
14
14q24.3-q32.33
Duplication
1
14
14q31.1
Deletion
16
14
14q31.1-q31.2
Deletion
1
14
14q31.1-q31.3
Duplication
2
14
14q31.2
Deletion-Duplication
6
14
14q31.2-q31.3
Deletion
1
14
14q31.2-q32.33
Duplication
1
14
14q31.3
Deletion-Duplication
16
14
14q31.3-q32.31
Deletion
1
14
14q31.3-q32.33
Duplication
2
14
14q32.11
Deletion-Duplication
4
14
14q32.11-q32.12
Duplication
1
14
14q32.11-q32.13
Deletion
1
14
14q32.12
Deletion
7
14
14q32.12-q32.33
Duplication
1
14
14q32.13
Deletion-Duplication
5
14
14q32.13-q32.2
Duplication
2
14
14q32.13-q32.33
Duplication
1
14
14q32.2
Deletion-Duplication
22
14
14q32.2-q32.3
Deletion
1
14
14q32.2-q32.31
Deletion
5
14
14q32.2-q32.32
Deletion
1
14
14q32.2-q32.33
Deletion
4
14
14q32.31
Deletion-Duplication
11
14
14q32.31-q32.32
Duplication
2
14
14q32.31-q32.33
Deletion-Duplication
4
14
14q32.32
Duplication
2
14
14q32.32-q32.33
Deletion
3
14
14q32.33
Deletion-Duplication
30
14
14q32.33-qter
Deletion
1
15
15p11.1-q11.1
Deletion
1
15
15pter-q13.3
Duplication
1
15
15q11-q13
Duplication
10
15
15q11-q13.33
Duplication
1
15
15q11.1-q11.2
Duplication
6
15
15q11.1-q12
Duplication
3
15
15q11.1-q13.1
Duplication
9
15
15q11.1-q13.2
Duplication
2
15
15q11.1-q13.3
Duplication
4
15
15q11.1-q14
Deletion
1
15
15q11.2
Deletion-Duplication
111
15
15q11.2-q12
Duplication
9
15
15q11.2-q13.1
Duplication
80
15
15q11.2-q13.2
Duplication
9
15
15q11.2-q13.3
Duplication
18
15
15q11.2-q14
Duplication
3
15
15q12
Deletion-Duplication
12
15
15q12-q13.1
Duplication
5
15
15q12.1
Duplication
1
15
15q13
Duplication
1
15
15q13.1
Deletion-Duplication
14
15
15q13.1-q13.2
Deletion-Duplication
15
15
15q13.1-q13.3
Deletion
21
15
15q13.1-q14
Duplication
1
15
15q13.2
Deletion-Duplication
16
15
15q13.2-q13.3
Deletion-Duplication
52
15
15q13.3
Deletion-Duplication
78
15
15q13.3-q14
Deletion-Duplication
2
15
15q13.3-q15.1
Deletion
1
15
15q14
Deletion-Duplication
24
15
15q14-q15.1
Duplication
1
15
15q15.1
Deletion-Duplication
9
15
15q15.2
Deletion
4
15
15q15.3
Deletion-Duplication
10
15
15q15.3-q21.1
Duplication
1
15
15q21.1
Deletion-Duplication
8
15
15q21.1-q21.2
Deletion
2
15
15q21.1-q21.3
Deletion
2
15
15q21.2
Deletion-Duplication
10
15
15q21.2-q22.2
Deletion
1
15
15q21.2-q26.3
Duplication
1
15
15q21.3
Deletion-Duplication
19
15
15q21.3-q22.1
Deletion
1
15
15q21.3-q22.2
Deletion
6
15
15q21.3-q22.31
Deletion
1
15
15q22.1
Deletion
5
15
15q22.2
Deletion-Duplication
11
15
15q22.31
Deletion-Duplication
11
15
15q22.33-q23
Deletion
1
15
15q23
Deletion-Duplication
13
15
15q23-q24
Duplication
1
15
15q23-q24.1
Deletion
9
15
15q23-q24.2
Deletion
3
15
15q23-q25.1
Deletion
1
15
15q24
Duplication
2
15
15q24.1
Deletion-Duplication
13
15
15q24.1-q24.2
Deletion
11
15
15q24.1-q24.3
Duplication
2
15
15q24.2
Deletion
9
15
15q24.2-q24.3
Deletion-Duplication
1
15
15q24.2-q26.3
Duplication
1
15
15q24.3
Deletion-Duplication
4
15
15q24.3-q25.1
Duplication
2
15
15q24.3-q26.3
Duplication
1
15
15q25.1
Deletion-Duplication
7
15
15q25.2
Deletion-Duplication
15
15
15q25.2-q25.3
Deletion
9
15
15q25.2-q26.1
Deletion
1
15
15q25.2-q26.3
Duplication
2
15
15q25.3
Deletion-Duplication
16
15
15q26.1
Deletion-Duplication
29
15
15q26.1-q26.2
Duplication
4
15
15q26.1-q26.3
Duplication
3
15
15q26.2
Deletion-Duplication
14
15
15q26.2-q26.3
Deletion-Duplication
4
15
15q26.3
Deletion-Duplication
35
16
16p11.1
Deletion-Duplication
5
16
16p11.2
Deletion-Duplication
137
16
16p11.2-p11.1
Duplication
5
16
16p12.1
Deletion-Duplication
20
16
16p12.1-p11.2
Duplication
4
16
16p12.1-q11.2
Deletion
1
16
16p12.1-q12.1
Deletion
1
16
16p12.2
Deletion-Duplication
25
16
16p12.2-p11.2
Duplication
14
16
16p12.2-p12.1
Duplication
7
16
16p12.3
Deletion-Duplication
19
16
16p12.3-p12.2
Duplication
1
16
16p13
Deletion
1
16
16p13.11
Deletion-Duplication
69
16
16p13.11-p11.2
Duplication
1
16
16p13.11-p12.3
Deletion-Duplication
26
16
16p13.12
Deletion-Duplication
14
16
16p13.12-p12.3
Duplication
1
16
16p13.12-p13.11
Deletion-Duplication
7
16
16p13.13
Deletion-Duplication
5
16
16p13.13-p13.11
Deletion
1
16
16p13.13-p13.12
Duplication
5
16
16p13.13-p13.2
Deletion
1
16
16p13.2
Deletion-Duplication
41
16
16p13.2-p13.13
Deletion
4
16
16p13.3
Deletion-Duplication
67
16
16p13.3-p13.11
Duplication
1
16
16p13.3-p13.12
Duplication
3
16
16p13.3-p13.13
Deletion-Duplication
2
16
16p13.3-p13.2
Deletion
5
16
16q11.2
Deletion-Duplication
3
16
16q11.2-q12.1
Deletion-Duplication
1
16
16q12.1
Deletion-Duplication
10
16
16q12.1-q12.2
Deletion
1
16
16q12.2
Deletion-Duplication
13
16
16q12.2-q13
Duplication
2
16
16q13
Deletion-Duplication
4
16
16q13-q21
Duplication
1
16
16q13-q22.3
Duplication
1
16
16q21
Deletion-Duplication
18
16
16q21-q22.1
Deletion
3
16
16q21-q23.1
Duplication
1
16
16q21-q24.3
Duplication
1
16
16q22.1
Deletion-Duplication
23
16
16q22.1-q22.2
Deletion
3
16
16q22.1-q22.3
Duplication
4
16
16q22.1-q23.1
Deletion
1
16
16q22.1-q24.3
Duplication
2
16
16q22.2
Deletion
4
16
16q22.2-q22.3
Deletion
1
16
16q22.2-q24.1
Duplication
1
16
16q22.3
Deletion-Duplication
8
16
16q22.3-q23.1
Duplication
3
16
16q22.3-q23.3
Deletion
1
16
16q23.1
Deletion-Duplication
47
16
16q23.1-q23.2
Deletion
3
16
16q23.1-q24.2
Deletion
1
16
16q23.1-q24.3
Duplication
5
16
16q23.2
Deletion-Duplication
14
16
16q23.2-q23.3
Deletion
2
16
16q23.2-q24.1
Deletion
6
16
16q23.2-q24.3
Duplication
1
16
16q23.3
Deletion-Duplication
22
16
16q23.3-q24.1
Deletion
5
16
16q23.3-q24.2
Deletion
1
16
16q23.3-q24.3
Duplication
1
16
16q24.1
Deletion-Duplication
21
16
16q24.1-q24.2
Deletion
2
16
16q24.1-q24.3
Deletion-Duplication
3
16
16q24.2
Deletion-Duplication
10
16
16q24.2-q24.3
Deletion
11
16
16q24.3
Deletion-Duplication
34
16
16qter
Duplication
1
17
17p11.2
Deletion-Duplication
62
17
17p11.2-p11.1
Deletion-Duplication
4
17
17p12
Deletion-Duplication
36
17
17p12-p11.2
Duplication
7
17
17p12-q11.1
Duplication
1
17
17p12-q11.2
Duplication
1
17
17p13
Deletion
1
17
17p13.1
Deletion-Duplication
29
17
17p13.1-p11.2
Duplication
2
17
17p13.2
Deletion-Duplication
20
17
17p13.2-p13.1
Duplication
8
17
17p13.3
Deletion-Duplication
51
17
17p13.3-p11.2
Duplication
1
17
17p13.3-p12
Duplication
3
17
17p13.3-p13.1
Deletion-Duplication
4
17
17p13.3-p13.2
Duplication
9
17
17p13.3-q11.1
Duplication
1
17
17pter-p13.1
Duplication
1
17
17q11-q21.3
Deletion-Duplication
1
17
17q11.1
Deletion
6
17
17q11.1-q11.2
Duplication
3
17
17q11.1-q12
Duplication
2
17
17q11.2
Deletion-Duplication
27
17
17q11.2-q12
Deletion
2
17
17q12
Deletion-Duplication
74
17
17q12-q21.1
Duplication
1
17
17q12-q21.31
Duplication
1
17
17q12-q25.3
Duplication
1
17
17q21.1
Deletion
2
17
17q21.2
Deletion-Duplication
7
17
17q21.2-q21.32
Duplication
1
17
17q21.31
Duplication
48
17
17q21.31-q21.32
Deletion
5
17
17q21.31-q21.33
Duplication
1
17
17q21.32
Deletion-Duplication
13
17
17q21.32-q21.33
Deletion
2
17
17q21.32-q24.3
Duplication
1
17
17q21.33
Deletion-Duplication
8
17
17q21.33-q22
Deletion
1
17
17q21.33-q24.2
Duplication
1
17
17q22
Deletion-Duplication
20
17
17q22-q23.1
Duplication
1
17
17q23.1
Deletion
2
17
17q23.1-q23.2
Deletion
1
17
17q23.2
Deletion
8
17
17q23.2-q24.2
Duplication
1
17
17q23.2-q25.3
Duplication
1
17
17q23.3
Deletion-Duplication
11
17
17q23.3-q24.2
Deletion
2
17
17q23.3-q24.3
Duplication
1
17
17q24.1
Duplication
5
17
17q24.1-q24.3
Deletion
1
17
17q24.2
Deletion
13
17
17q24.2-q24.3
Deletion
2
17
17q24.3
Deletion-Duplication
7
17
17q24.3-q25.1
Deletion
1
17
17q24.3-q25.3
Duplication
1
17
17q25.1
Deletion-Duplication
24
17
17q25.1-q25.2
Duplication
1
17
17q25.1-q25.3
Duplication
3
17
17q25.2
Deletion-Duplication
5
17
17q25.2-q25.3
Duplication
1
17
17q25.3
Deletion-Duplication
29
18
18p11.2-q11.1
Duplication
1
18
18p11.21
Deletion-Duplication
15
18
18p11.22
Deletion-Duplication
9
18
18p11.22-p11.21
Duplication
4
18
18p11.23
Deletion
4
18
18p11.23-p11.22
Duplication
1
18
18p11.3
Duplication
1
18
18p11.31
Deletion-Duplication
13
18
18p11.31-p11.21
Duplication
2
18
18p11.31-p11.22
Deletion
3
18
18p11.31-p11.23
Duplication
11
18
18p11.32
Deletion-Duplication
21
18
18p11.32-p11.21
Duplication
11
18
18p11.32-p11.22
Deletion
2
18
18p11.32-p11.23
Deletion
3
18
18p11.32-p11.31
Deletion-Duplication
11
18
18p11.32-q11.1
Duplication
2
18
18p11.32-q23
Duplication
2
18
18pter-p11.32
Deletion
1
18
18q11.1
Duplication
4
18
18q11.1-q11.2
Duplication
1
18
18q11.1-q12.1
Duplication
1
18
18q11.1-q23
Duplication
2
18
18q11.2
Deletion-Duplication
13
18
18q11.2-q12.1
Duplication
1
18
18q11.2-q12.2
Deletion
1
18
18q12
Deletion
1
18
18q12.1
Deletion-Duplication
17
18
18q12.1-q12.2
Deletion
3
18
18q12.1-q12.3
Deletion-Duplication
1
18
18q12.1-q22.1
Duplication
1
18
18q12.11
Duplication
1
18
18q12.2
Deletion-Duplication
19
18
18q12.2-q12.3
Deletion
2
18
18q12.2-q21.1
Deletion
1
18
18q12.3
Deletion-Duplication
15
18
18q12.3-q21.1
N/A
3
18
18q21.1
Deletion-Duplication
16
18
18q21.1-q23
Duplication
2
18
18q21.2
Deletion-Duplication
14
18
18q21.2-q21.31
Deletion
2
18
18q21.2-q21.32
Duplication
1
18
18q21.2-q22.1
Deletion
2
18
18q21.2-q23
Deletion
5
18
18q21.31
Deletion-Duplication
10
18
18q21.31-q21.32
Duplication
2
18
18q21.31-q23
Deletion
3
18
18q21.32
Deletion-Duplication
10
18
18q21.32-q21.33
Deletion
2
18
18q21.32-q23
Deletion
7
18
18q21.33
Deletion-Duplication
5
18
18q21.33-q23
Deletion-Duplication
5
18
18q22.1
Deletion-Duplication
22
18
18q22.1-q22.2
Deletion
6
18
18q22.1-q23
Deletion-Duplication
8
18
18q22.2
Deletion-Duplication
8
18
18q22.2-q22.3
Duplication
2
18
18q22.2-q23
Deletion
3
18
18q22.2-qter
Deletion
1
18
18q22.3
Deletion-Duplication
18
18
18q22.3-q23
Deletion-Duplication
5
18
18q22.3-qter
Deletion
1
18
18q23
Deletion-Duplication
23
19
19p12
Deletion-Duplication
25
19
19p12-q13.11
Duplication
1
19
19p13
Deletion
1
19
19p13.11
Deletion-Duplication
17
19
19p13.11-q13.11
Duplication
1
19
19p13.12
Deletion-Duplication
18
19
19p13.12-p12
Duplication
1
19
19p13.12-p13.11
Deletion
5
19
19p13.12-q12
Duplication
1
19
19p13.13
Deletion
6
19
19p13.13-p12
Duplication
1
19
19p13.13-p13.11
Deletion
2
19
19p13.13-p13.12
Deletion
2
19
19p13.2
Deletion-Duplication
31
19
19p13.2-p13.11
Duplication
2
19
19p13.2-p13.12
Deletion-Duplication
5
19
19p13.2-p13.13
Deletion-Duplication
3
19
19p13.3
Deletion-Duplication
36
19
19p13.3-p13.11
Duplication
1
19
19p13.3-p13.12
Duplication
1
19
19p13.3-p13.2
Deletion-Duplication
10
19
19q11
Duplication
1
19
19q11-q12
Duplication
1
19
19q12
Deletion-Duplication
11
19
19q12-q13.11
Duplication
3
19
19q12-q13.3
Deletion
1
19
19q13.11
Deletion-Duplication
9
19
19q13.12
Deletion
12
19
19q13.12-q13.13
Duplication
1
19
19q13.12-q13.2
Deletion
1
19
19q13.12-q13.31
Duplication
1
19
19q13.2
Deletion-Duplication
17
19
19q13.2-q13.31
Deletion
6
19
19q13.3
Deletion
2
19
19q13.31
Deletion-Duplication
19
19
19q13.32
Deletion-Duplication
13
19
19q13.32-q13.33
Duplication
2
19
19q13.32-q13.43
Duplication
1
19
19q13.33
Deletion-Duplication
19
19
19q13.33-q13.41
Deletion-Duplication
4
19
19q13.33-q13.43
Duplication
1
19
19q13.41
Deletion-Duplication
18
19
19q13.42
Deletion-Duplication
30
19
19q13.42-q13.43
Duplication
6
19
19q13.43
Deletion-Duplication
20
1
1p11.1
Duplication
1
1
1p11.2
Deletion-Duplication
6
1
1p11.2-p11.1
Duplication
2
1
1p11.2-q21.1
Duplication
1
1
1p11.2-q21.2
Deletion
1
1
1p12
Deletion-Duplication
7
1
1p12-p11.2
Duplication
3
1
1p13.1
Deletion
3
1
1p13.1-p12
Deletion-Duplication
1
1
1p13.2
Deletion-Duplication
13
1
1p13.2-p11.2
Duplication
1
1
1p13.3
Deletion-Duplication
24
1
1p13.3-p12
Duplication
1
1
1p13.3-p13.2
Duplication
2
1
1p21.1
Deletion-Duplication
23
1
1p21.1-p13.3
Deletion
2
1
1p21.2
Deletion
3
1
1p21.2-p13.2
Duplication
2
1
1p21.2-p21.1
Duplication
1
1
1p21.3
Deletion-Duplication
16
1
1p21.3-p13.3
Deletion
3
1
1p21.3-p21.1
Deletion
1
1
1p21.3-p21.2
Deletion
8
1
1p22.1
Deletion-Duplication
10
1
1p22.1-p13.3
Deletion
1
1
1p22.1-p21.1
Deletion
1
1
1p22.1-p21.2
Deletion
1
1
1p22.1-p21.3
Deletion
4
1
1p22.2
Deletion-Duplication
8
1
1p22.2-p22.1
Duplication
5
1
1p22.3
Deletion-Duplication
7
1
1p31.1
Deletion-Duplication
31
1
1p31.1-p13.3
Duplication
1
1
1p31.2
Deletion-Duplication
1
1
1p31.2-p22.3
Deletion
1
1
1p31.3
Deletion-Duplication
24
1
1p31.3-p31.1
Deletion
3
1
1p32.1
Deletion-Duplication
6
1
1p32.1-p31.1
Deletion
1
1
1p32.1-p31.3
Duplication
4
1
1p32.2
Deletion-Duplication
6
1
1p32.2-p31.1
Deletion
1
1
1p32.3
Deletion-Duplication
14
1
1p32.3-p31.1
Duplication
1
1
1p32.3-p31.3
Deletion
1
1
1p33
Deletion-Duplication
17
1
1p33-p31.3
Duplication
1
1
1p33-p32.3
Deletion
2
1
1p34.1
Deletion-Duplication
15
1
1p34.2
Deletion-Duplication
16
1
1p34.2-p33
Duplication
1
1
1p34.2-p34.1
Deletion
1
1
1p34.3
Deletion-Duplication
11
1
1p34.3-p34.1
Duplication
1
1
1p34.3-p34.2
Deletion
3
1
1p35.1
Deletion
7
1
1p35.1-p34.3
Duplication
1
1
1p35.2
Deletion-Duplication
13
1
1p35.2-p34.3
Duplication
2
1
1p35.2-p35.1
Deletion-Duplication
1
1
1p35.3
Deletion
6
1
1p35.3-p35.2
Duplication
3
1
1p36
Deletion
1
1
1p36.11
Deletion-Duplication
15
1
1p36.11-p35.1
Duplication
1
1
1p36.11-p35.3
Deletion
3
1
1p36.12
Deletion-Duplication
9
1
1p36.13
Deletion-Duplication
19
1
1p36.13-p36.12
Deletion
2
1
1p36.21
Deletion-Duplication
14
1
1p36.21-p36.12
Deletion-Duplication
1
1
1p36.21-p36.13
Deletion-Duplication
1
1
1p36.22
Deletion-Duplication
14
1
1p36.22-p36.12
Deletion
1
1
1p36.22-p36.13
Deletion
2
1
1p36.22-p36.21
Duplication
5
1
1p36.23
Deletion
8
1
1p36.23-p36.13
Deletion
1
1
1p36.23-p36.21
Deletion
1
1
1p36.23-p36.22
Duplication
2
1
1p36.31
Deletion-Duplication
14
1
1p36.31-p36.13
Duplication
1
1
1p36.31-p36.21
Duplication
1
1
1p36.31-p36.22
Deletion
1
1
1p36.31-p36.23
Deletion-Duplication
1
1
1p36.32
Deletion-Duplication
15
1
1p36.32-p36.13
Deletion
1
1
1p36.32-p36.21
Deletion
2
1
1p36.32-p36.22
Deletion
3
1
1p36.32-p36.23
Deletion
1
1
1p36.32-p36.31
Deletion-Duplication
1
1
1p36.33
Deletion-Duplication
25
1
1p36.33-p36.13
Duplication
1
1
1p36.33-p36.22
Deletion
3
1
1p36.33-p36.23
Deletion
5
1
1p36.33-p36.31
Deletion
4
1
1p36.33-p36.32
Deletion
17
1
1q12
Duplication
1
1
1q12-q21.1
Duplication
3
1
1q21.1
Deletion-Duplication
63
1
1q21.1-q21.2
Duplication
43
1
1q21.1-q21.3
Duplication
1
1
1q21.1-q22
Duplication
1
1
1q21.2
Deletion-Duplication
18
1
1q21.2-q21.3
Duplication
2
1
1q21.3
Deletion-Duplication
23
1
1q21.3-q22
Deletion
3
1
1q21.3-q23.1
Duplication
1
1
1q22
Deletion-Duplication
11
1
1q22-q23.1
Duplication
3
1
1q23.1
Deletion-Duplication
11
1
1q23.1-q23.3
Duplication
1
1
1q23.1-q25.1
Duplication
1
1
1q23.2
Deletion
4
1
1q23.2-q24.1
Deletion
1
1
1q23.3
Deletion-Duplication
11
1
1q23.3-q24.1
Deletion
1
1
1q23.3-q24.2
Deletion
2
1
1q23.3-q24.3
Deletion
2
1
1q23.3-q25.1
Deletion
1
1
1q23.3-q25.2
Duplication
1
1
1q24.1
Deletion
3
1
1q24.1-q25.1
Deletion
2
1
1q24.2
Deletion
14
1
1q24.2-q25.1
Deletion
2
1
1q24.2-q31.2
Deletion
2
1
1q24.3
Deletion-Duplication
9
1
1q24.3-q25.2
Deletion
2
1
1q25.1
Deletion-Duplication
13
1
1q25.1-q25.2
Duplication
1
1
1q25.1-q31.1
Deletion
2
1
1q25.2
Deletion-Duplication
10
1
1q25.2-q25.3
Deletion
1
1
1q25.2-q32.1
Deletion
1
1
1q25.3
Deletion-Duplication
18
1
1q25.3-q31.1
Deletion
3
1
1q31
Duplication
1
1
1q31.1
Deletion-Duplication
19
1
1q31.1-q31.2
Duplication
2
1
1q31.1-q42.11
Duplication
1
1
1q31.2
Deletion-Duplication
9
1
1q31.2-q31.3
Deletion
2
1
1q31.3
Deletion-Duplication
17
1
1q31.3-q32.1
Deletion
1
1
1q32.1
Deletion-Duplication
19
1
1q32.1-q32.2
Duplication
3
1
1q32.1-q41
Duplication
1
1
1q32.2
Deletion-Duplication
10
1
1q32.2-q44
Duplication
1
1
1q32.3
Deletion-Duplication
4
1
1q32.3-q41
Deletion
2
1
1q41
Deletion-Duplication
16
1
1q41-q42.11
Duplication
2
1
1q41-q42.12
Deletion
3
1
1q41-q42.13
Deletion
2
1
1q41-q43
Duplication
1
1
1q41-q44
Duplication
2
1
1q42.11
Deletion
1
1
1q42.11-q42.12
Deletion
4
1
1q42.11-q42.13
Deletion
1
1
1q42.11-q44
Duplication
1
1
1q42.12
Deletion-Duplication
11
1
1q42.13
Deletion-Duplication
13
1
1q42.13-q42.2
Deletion
7
1
1q42.13-q44
Deletion
2
1
1q42.2
Deletion-Duplication
20
1
1q42.2-q43
Deletion
1
1
1q42.2-q44
Deletion
2
1
1q42.3
Deletion
11
1
1q42.3-q43
Deletion
1
1
1q42.3-q43.1
Duplication
1
1
1q42.3-q44
Duplication
1
1
1q43
Deletion-Duplication
27
1
1q43-q44
Duplication
10
1
1q44
Deletion-Duplication
57
1
1qter
Deletion
1
20
20p11.1
Deletion-Duplication
5
20
20p11.1-q11.1
Deletion-Duplication
1
20
20p11.21
Deletion-Duplication
13
20
20p11.21-p11.1
Duplication
5
20
20p11.22
Deletion
4
20
20p11.22-q11.1
Duplication
1
20
20p11.23
Deletion-Duplication
13
20
20p11.23-p11.21
Deletion
1
20
20p12.1
Deletion-Duplication
43
20
20p12.1-p11.23
Deletion
1
20
20p12.2
Deletion
6
20
20p12.2-q12
Duplication
1
20
20p12.3
Deletion-Duplication
22
20
20p12.3-p12.2
Duplication
4
20
20p13
Deletion-Duplication
33
20
20p13-p11.21
Duplication
1
20
20p13-p11.22
Duplication
1
20
20p13-p11.23
Duplication
1
20
20p13-p12.1
Duplication
3
20
20p13-p12.3
Duplication
1
20
20q11.1
Duplication
1
20
20q11.1-q11.21
Duplication
3
20
20q11.1-q11.22
Duplication
1
20
20q11.21
Deletion-Duplication
17
20
20q11.21-q11.22
Duplication
2
20
20q11.21-q11.23
Duplication
1
20
20q11.22
Deletion
7
20
20q11.22-q11.23
Deletion
1
20
20q11.22-q12
Deletion
1
20
20q11.22-q13.11
Duplication
1
20
20q11.23
Deletion-Duplication
7
20
20q11.23-q12
Duplication
2
20
20q12
Deletion-Duplication
21
20
20q12-q13.11
Duplication
2
20
20q13.11
Deletion-Duplication
2
20
20q13.12
Deletion-Duplication
8
20
20q13.12-q13.13
Duplication
2
20
20q13.12-q13.33
Duplication
1
20
20q13.13
Deletion-Duplication
13
20
20q13.13-q13.2
Deletion-Duplication
1
20
20q13.13-q13.32
Duplication
1
20
20q13.2
Deletion-Duplication
15
20
20q13.2-q13.3
Duplication
1
20
20q13.2-q13.33
Duplication
1
20
20q13.3
Deletion
1
20
20q13.31
Deletion-Duplication
3
20
20q13.31-q13.32
Deletion
1
20
20q13.31-q13.33
Duplication
1
20
20q13.32
Deletion
3
20
20q13.32-q13.33
Duplication
2
20
20q13.33
Deletion-Duplication
33
21
21p11.1
Duplication
2
21
21p11.2
Deletion-Duplication
3
21
21p11.2-p11.1
Deletion-Duplication
2
21
21p11.2-q11.2
Deletion
1
21
21p13-q22.3
Duplication
3
21
21q11.2
Deletion-Duplication
10
21
21q11.2-q21.1
Deletion-Duplication
2
21
21q11.2-q21.3
Deletion
2
21
21q11.2-q22.11
Deletion
1
21
21q11.2-q22.3
Duplication
10
21
21q21.1
Deletion-Duplication
18
21
21q21.1-q21.2
Deletion
7
21
21q21.1-q21.3
Deletion
1
21
21q21.1-q22.3
Duplication
2
21
21q21.2
Deletion-Duplication
6
21
21q21.2-q21.3
Deletion
2
21
21q21.3
Deletion-Duplication
16
21
21q21.3-q22.11
Duplication
2
21
21q22.11
Deletion-Duplication
13
21
21q22.11-q22.12
Duplication
9
21
21q22.11-q22.3
Deletion-Duplication
1
21
21q22.12
Deletion-Duplication
12
21
21q22.12-q22.13
Deletion
1
21
21q22.12-q22.2
Duplication
3
21
21q22.12-q22.3
Deletion
1
21
21q22.13
Deletion-Duplication
9
21
21q22.13-q22.2
Deletion
3
21
21q22.13-q22.3
Deletion
3
21
21q22.2
Deletion-Duplication
8
21
21q22.2-q22.3
Deletion
5
21
21q22.3
Deletion-Duplication
43
22
22p13
Deletion
1
22
22q11
Deletion-Duplication
1
22
22q11.1
Deletion-Duplication
16
22
22q11.1-q11.21
Duplication
10
22
22q11.1-q11.23
Duplication
1
22
22q11.2
Duplication
7
22
22q11.2-q22.3
Duplication
1
22
22q11.21
Deletion-Duplication
109
22
22q11.21-q11.22
Deletion-Duplication
14
22
22q11.21-q11.23
Deletion
6
22
22q11.21-q12.3
Duplication
2
22
22q11.22
Deletion-Duplication
26
22
22q11.22-q11.23
Duplication
12
22
22q11.23
Deletion-Duplication
33
22
22q11.23-q12.1
Duplication
2
22
22q11.23-q13.2
Duplication
1
22
22q12.1
Deletion-Duplication
10
22
22q12.1-q12.2
Deletion-Duplication
3
22
22q12.1-q12.3
Duplication
2
22
22q12.2
Deletion-Duplication
7
22
22q12.3
Deletion-Duplication
23
22
22q12.3-q13.1
Deletion
3
22
22q12.3-q13.33
Duplication
1
22
22q13
Deletion
1
22
22q13.1
Deletion-Duplication
27
22
22q13.1-q13.3
Duplication
1
22
22q13.1-q13.33
Duplication
3
22
22q13.2
Deletion-Duplication
16
22
22q13.2-q13.31
Duplication
1
22
22q13.2-q13.33
Deletion-Duplication
12
22
22q13.3
Deletion
2
22
22q13.31
Deletion-Duplication
16
22
22q13.31-q13.32
Duplication
1
22
22q13.31-q13.33
Deletion-Duplication
32
22
22q13.32
Deletion-Duplication
3
22
22q13.32-q13.33
Duplication
25
22
22q13.33
Deletion-Duplication
72
2
2p11.1
Duplication
2
2
2p11.2
Deletion-Duplication
27
2
2p11.2-p11.1
Duplication
2
2
2p11.2-q12.1
Duplication
1
2
2p12
Deletion-Duplication
20
2
2p12-p11.2
Deletion
1
2
2p13.1
Deletion-Duplication
8
2
2p13.1-p12
Duplication
5
2
2p13.2
Deletion-Duplication
10
2
2p13.3
Deletion
8
2
2p13.3-p12
Deletion
2
2
2p13.3-p13.1
Deletion
1
2
2p13.3-p13.2
Deletion
3
2
2p14
Deletion-Duplication
14
2
2p15
Deletion-Duplication
18
2
2p15-p14
Deletion-Duplication
1
2
2p16.1
Deletion-Duplication
20
2
2p16.1-p14
Deletion
1
2
2p16.1-p15
Deletion
10
2
2p16.2
Deletion-Duplication
14
2
2p16.3
Deletion-Duplication
81
2
2p16.3-p16.2
Deletion-Duplication
3
2
2p21
Deletion-Duplication
28
2
2p21-p16.3
Deletion
5
2
2p22.1
Deletion-Duplication
16
2
2p22.1-p16.1
Duplication
1
2
2p22.2
Deletion-Duplication
9
2
2p22.3
Deletion-Duplication
37
2
2p22.3-p21
Duplication
1
2
2p22.3-p22.2
Duplication
1
2
2p23.1
Deletion
7
2
2p23.1-p22.3
N/A
2
2
2p23.2
Deletion-Duplication
7
2
2p23.3
Deletion
13
2
2p23.3-p16.3
Duplication
1
2
2p24.1
Deletion-Duplication
10
2
2p24.2
Deletion-Duplication
8
2
2p24.2-p24.1
Deletion
1
2
2p24.3
Deletion-Duplication
8
2
2p25
Duplication
1
2
2p25.1
Deletion-Duplication
12
2
2p25.1-p24.2
Deletion
2
2
2p25.1-p24.3
Duplication
2
2
2p25.2
Deletion-Duplication
7
2
2p25.2-p24.3
Deletion
4
2
2p25.2-p25.1
Deletion-Duplication
4
2
2p25.3
Deletion-Duplication
45
2
2p25.3-p16.1
Duplication
1
2
2p25.3-p23.1
Duplication
1
2
2p25.3-p24.3
Duplication
1
2
2p25.3-p25.1
Duplication
3
2
2p25.3-p25.2
Duplication
4
2
2q11.1
Duplication
8
2
2q11.1-q11.2
Deletion
2
2
2q11.1-q12.1
Duplication
1
2
2q11.2
Deletion-Duplication
23
2
2q11.2-q12.3
Duplication
1
2
2q11.2-q13
Duplication
4
2
2q12.1
Deletion
2
2
2q12.1-q12.2
Deletion-Duplication
1
2
2q12.1-q12.3
Deletion
1
2
2q12.1-q13
Deletion
2
2
2q12.2
Deletion
3
2
2q12.2-q12.3
Duplication
11
2
2q12.2-q13
Duplication
2
2
2q12.2-q24.1
Duplication
1
2
2q12.3
Deletion-Duplication
4
2
2q12.3-q13
Deletion-Duplication
2
2
2q13
Deletion-Duplication
46
2
2q13-q23.3
Duplication
1
2
2q14.1
Deletion-Duplication
15
2
2q14.1-q14.2
Duplication
2
2
2q14.1-q21.3
Deletion
1
2
2q14.2
Deletion-Duplication
14
2
2q14.2-q14.3
Duplication
1
2
2q14.3
Deletion-Duplication
18
2
2q14.3-q21.1
Duplication
2
2
2q14.3-q24.3
Duplication
1
2
2q21.1
Deletion-Duplication
13
2
2q21.1-q21.2
Deletion
2
2
2q21.2
Duplication
14
2
2q21.2-q21.3
Duplication
2
2
2q21.3
Deletion
8
2
2q22.1
Deletion-Duplication
15
2
2q22.1-q22.2
Deletion
2
2
2q22.1-q22.3
Deletion
2
2
2q22.1-q23.1
Duplication
1
2
2q22.1-q24.3
Duplication
1
2
2q22.2
Deletion
5
2
2q22.2-q22.3
Deletion-Duplication
4
2
2q22.2-q23.1
Duplication
1
2
2q22.2-q24.2
Duplication
1
2
2q22.3
Deletion
5
2
2q22.3-q23.1
Deletion
7
2
2q22.3-q23.2
Duplication
2
2
2q22.3-q23.3
Deletion
5
2
2q22.3-q24.1
Deletion
1
2
2q23.1
Deletion-Duplication
26
2
2q23.1-q23.3
Deletion
2
2
2q23.1-q24.3
Deletion
1
2
2q23.2
Deletion
3
2
2q23.2-q23.3
Duplication
1
2
2q23.3
Deletion
10
2
2q23.3-q24.1
Deletion
5
2
2q23.3-q24.3
Deletion
1
2
2q24.1
Deletion-Duplication
16
2
2q24.1-q24.2
Deletion-Duplication
7
2
2q24.1-q24.3
Deletion
3
2
2q24.1-q31.1
Deletion
1
2
2q24.2
Deletion-Duplication
16
2
2q24.2-q24.3
Deletion
5
2
2q24.2-q31.1
Deletion
1
2
2q24.3
Deletion
19
2
2q24.3-q31.1
Deletion
3
2
2q24.3-q32.1
Deletion
1
2
2q31.1
Deletion-Duplication
16
2
2q31.1-q31.2
Deletion
3
2
2q31.1-q31.3
Deletion
1
2
2q31.1-q32.1
Deletion
1
2
2q31.1-q33.1
Deletion
2
2
2q31.1-q33.2
Deletion
1
2
2q31.2
Deletion-Duplication
17
2
2q31.2-q32.1
Deletion
1
2
2q31.2-q33.1
Deletion
1
2
2q31.3
Deletion-Duplication
7
2
2q31.3-q32.1
Deletion
1
2
2q31.3-q36.1
Duplication
1
2
2q32-q33
Deletion
1
2
2q32.1
Deletion-Duplication
27
2
2q32.1-q32.2
Deletion
1
2
2q32.1-q33.3
Duplication
2
2
2q32.2
Deletion
5
2
2q32.2-q37.3
Duplication
1
2
2q32.3
Deletion-Duplication
12
2
2q32.3-q33.1
Duplication
5
2
2q32.3-q37.3
Duplication
1
2
2q33.1
Deletion-Duplication
23
2
2q33.1-q33.2
Deletion
2
2
2q33.1-q34
Deletion
3
2
2q33.2
Deletion
3
2
2q33.2-q33.3
Deletion
1
2
2q33.2-q35
Deletion
1
2
2q33.3
Deletion-Duplication
10
2
2q33.3-q34
Deletion
3
2
2q34
Deletion-Duplication
25
2
2q34-q35
Duplication
3
2
2q34-q36.3
Duplication
1
2
2q35
Deletion-Duplication
14
2
2q35-q36.3
Deletion-Duplication
1
2
2q36.1
Deletion-Duplication
10
2
2q36.1-q36.2
Deletion
2
2
2q36.1-q37.1
Duplication
2
2
2q36.1-q37.3
Duplication
1
2
2q36.2
Deletion
5
2
2q36.2-q36.3
Deletion
1
2
2q36.3
Deletion-Duplication
22
2
2q36.3-q37.2
Deletion
1
2
2q36.3-q37.3
Deletion-Duplication
2
2
2q37.1
Deletion-Duplication
20
2
2q37.1-q37.2
Duplication
1
2
2q37.1-q37.3
Deletion
9
2
2q37.2
Deletion-Duplication
9
2
2q37.2-q37.3
Deletion
8
2
2q37.3
Deletion-Duplication
57
3
3p11.1
Deletion-Duplication
10
3
3p11.1-q11.2
Duplication
1
3
3p11.2
Deletion
8
3
3p12.1
Deletion-Duplication
8
3
3p12.1-p11.1
Deletion
1
3
3p12.2
Deletion-Duplication
11
3
3p12.2-p11.1
Deletion
2
3
3p12.2-p11.2
Deletion
1
3
3p12.2-p12.1
Duplication
2
3
3p12.3
Deletion-Duplication
23
3
3p12.3-p11.2
Deletion
2
3
3p12.3-p12.1
Deletion
2
3
3p12.3-p12.2
Duplication
2
3
3p13
Deletion
12
3
3p13-p12.3
Deletion
1
3
3p14
Deletion
1
3
3p14.1
Deletion-Duplication
21
3
3p14.1-p12.3
Deletion
2
3
3p14.1-p13
Deletion
11
3
3p14.2
Deletion-Duplication
28
3
3p14.2-p12.3
Deletion
1
3
3p14.2-p14.1
Deletion
8
3
3p14.3
Deletion-Duplication
15
3
3p14.3-p14.1
Deletion
1
3
3p14.3-p14.2
Duplication
4
3
3p21.1
Deletion
7
3
3p21.1-p14.1
Deletion
2
3
3p21.1-p14.3
Deletion
2
3
3p21.2
Deletion
3
3
3p21.31
Deletion-Duplication
17
3
3p21.31-p14.3
Deletion
1
3
3p21.31-p21.1
Duplication
1
3
3p21.33
Deletion-Duplication
2
3
3p22.1
Deletion
13
3
3p22.1-p21.31
Deletion
1
3
3p22.1-p21.32
Deletion
1
3
3p22.2
Deletion-Duplication
12
3
3p22.2-p22.1
Duplication
1
3
3p22.3
Deletion-Duplication
14
3
3p22.3-p22.2
Deletion
1
3
3p23
Deletion
2
3
3p24.1
Deletion-Duplication
8
3
3p24.2
Deletion
8
3
3p24.3
Deletion-Duplication
18
3
3p24.3-p24.2
Deletion-Duplication
1
3
3p25-p24.3
Deletion
2
3
3p25.1
Deletion-Duplication
15
3
3p25.1-p24.3
Deletion
2
3
3p25.2
Deletion
6
3
3p25.3
Deletion-Duplication
20
3
3p25.3-p22.2
Duplication
1
3
3p25.3-p25.2
Deletion
3
3
3p26.1
Deletion-Duplication
23
3
3p26.1-p25.2
Deletion
1
3
3p26.1-p25.3
Duplication
3
3
3p26.2
Deletion-Duplication
17
3
3p26.2-p26.1
N/A
2
3
3p26.3
Deletion-Duplication
63
3
3p26.3-p22.2
Duplication
1
3
3p26.3-p22.3
Duplication
1
3
3p26.3-p24.1
Duplication
1
3
3p26.3-p24.3
Duplication
2
3
3p26.3-p25.3
Deletion
3
3
3p26.3-p26.1
Deletion
4
3
3p26.3-p26.2
Duplication
14
3
3pter-p25.3
Duplication
1
3
3q11.1
Deletion
1
3
3q11.1-q12.1
Duplication
1
3
3q11.2
Deletion-Duplication
9
3
3q11.2-q12.1
Duplication
2
3
3q11.2-q21.1
Deletion
1
3
3q12.1
Deletion-Duplication
6
3
3q12.2
Deletion-Duplication
4
3
3q12.2-q13.11
Deletion
1
3
3q12.3
Deletion
6
3
3q12.3-q13.31
Deletion
2
3
3q12.3-q13.33
Deletion
1
3
3q13.11
Deletion-Duplication
5
3
3q13.11-q13.13
Deletion
1
3
3q13.11-q13.31
Deletion-Duplication
2
3
3q13.11-q13.33
Deletion
1
3
3q13.11-q21.3
Deletion
1
3
3q13.12
Deletion-Duplication
5
3
3q13.12-q13.31
Deletion
2
3
3q13.13
Deletion-Duplication
8
3
3q13.13-q13.31
Deletion
2
3
3q13.13-q13.33
Deletion
1
3
3q13.2
Deletion-Duplication
4
3
3q13.2-q13.31
Deletion
7
3
3q13.2-q13.32
Deletion
1
3
3q13.31
Deletion-Duplication
17
3
3q13.32
Duplication
4
3
3q13.32-q21.2
Deletion
2
3
3q13.33
Deletion-Duplication
6
3
3q13.33-q21.2
Deletion
1
3
3q21.1
Deletion-Duplication
8
3
3q21.2
Deletion-Duplication
5
3
3q21.2-q21.3
Duplication
1
3
3q21.3
Deletion-Duplication
16
3
3q22.1
Deletion-Duplication
13
3
3q22.1-q22.3
Deletion
1
3
3q22.1-q23
Deletion
1
3
3q22.2
Duplication
4
3
3q22.2-q24
Deletion
1
3
3q22.3
Deletion-Duplication
16
3
3q22.3-q29
Duplication
1
3
3q23
Deletion-Duplication
18
3
3q23-q24
Deletion
1
3
3q24
Deletion-Duplication
13
3
3q24-q26.32
Duplication
1
3
3q24-q29
Duplication
3
3
3q25
Deletion
1
3
3q25.1
Deletion
8
3
3q25.1-q25.2
Deletion
1
3
3q25.2
Deletion
3
3
3q25.2-q25.31
Deletion
3
3
3q25.31
Deletion-Duplication
5
3
3q25.32
Deletion
8
3
3q25.32-q25.33
Duplication
2
3
3q25.32-q26.31
Duplication
1
3
3q25.32-q29
Duplication
1
3
3q25.33
Deletion-Duplication
5
3
3q25.33-q26.1
Duplication
1
3
3q26.1
Deletion-Duplication
24
3
3q26.1-q26.2
Duplication
1
3
3q26.1-q26.33
Duplication
1
3
3q26.1-q29
Duplication
3
3
3q26.2
Deletion
5
3
3q26.31
Deletion-Duplication
21
3
3q26.31-q26.32
Deletion
2
3
3q26.31-qter
Duplication
1
3
3q26.32
Deletion-Duplication
16
3
3q26.32-q26.33
Deletion-Duplication
5
3
3q26.32-q29
Duplication
2
3
3q26.32-q33
Duplication
1
3
3q26.33
Deletion-Duplication
8
3
3q26.33-q27.1
Deletion
1
3
3q26.33-q28
Deletion
2
3
3q27.1
Deletion
8
3
3q27.2
Deletion-Duplication
5
3
3q27.2-q28
Deletion
1
3
3q27.2-q29
Deletion
4
3
3q27.3
Deletion-Duplication
6
3
3q27.3-q28
Deletion
1
3
3q27.3-q29
Deletion
4
3
3q28
Deletion-Duplication
16
3
3q28-q29
Duplication
5
3
3q29
Deletion-Duplication
68
4
4p11
Duplication
2
4
4p11-q11
Duplication
1
4
4p12
Deletion-Duplication
7
4
4p12-p11
Duplication
3
4
4p12-q12
Duplication
1
4
4p13
Deletion-Duplication
12
4
4p13-p11
Duplication
1
4
4p13-p12
Duplication
1
4
4p13-q13.1
Duplication
1
4
4p14
Deletion-Duplication
18
4
4p15.1
Deletion-Duplication
18
4
4p15.1-p14
Duplication
4
4
4p15.2
Deletion-Duplication
10
4
4p15.2-p15.1
Duplication
1
4
4p15.31
Deletion-Duplication
9
4
4p15.31-p15.1
Duplication
1
4
4p15.31-p15.2
Deletion
2
4
4p15.32
Deletion
7
4
4p15.32-p15.2
Deletion
1
4
4p15.32-p15.31
Deletion
1
4
4p15.33
Deletion
10
4
4p15.33-p15.31
Deletion
1
4
4p15.33-p15.32
Duplication
2
4
4p16.1
Deletion-Duplication
26
4
4p16.1-p15.33
Deletion
1
4
4p16.2
Deletion
9
4
4p16.2-p16.1
Deletion
3
4
4p16.3
Deletion-Duplication
39
4
4p16.3-p14
Duplication
1
4
4p16.3-p15.1
Duplication
2
4
4p16.3-p15.2
Deletion-Duplication
2
4
4p16.3-p15.3
Duplication
1
4
4p16.3-p15.31
Duplication
2
4
4p16.3-p15.32
Deletion
3
4
4p16.3-p15.33
Deletion
1
4
4p16.3-p16.1
Duplication
16
4
4p16.3-p16.2
Duplication
6
4
4p16.34-p15.33
Deletion
1
4
4q11-q13.1
Duplication
1
4
4q11-q13.2
Duplication
1
4
4q11-q22.3
Duplication
1
4
4q12
Deletion-Duplication
24
4
4q12-q13.1
Duplication
3
4
4q12-q21.1
Deletion
1
4
4q13.1
Deletion-Duplication
14
4
4q13.1-q13.2
Duplication
4
4
4q13.1-q13.3
Deletion
1
4
4q13.1-q21.1
Deletion
1
4
4q13.1-q21.21
Deletion
1
4
4q13.2
Deletion-Duplication
30
4
4q13.2-q13.3
Deletion-Duplication
3
4
4q13.2-q21.23
Deletion
1
4
4q13.3
Deletion-Duplication
23
4
4q13.3-q21.1
Duplication
1
4
4q13.3-q21.21
Duplication
1
4
4q13.3-q21.22
Deletion
1
4
4q13.3-q22.1
Deletion
1
4
4q13.3-q22.3
Deletion
1
4
4q21.1
Deletion-Duplication
10
4
4q21.1-q21.22
Deletion
1
4
4q21.1-q21.23
Deletion
1
4
4q21.21
Deletion-Duplication
10
4
4q21.21-q21.22
Deletion
2
4
4q21.21-q21.23
Deletion
1
4
4q21.21-q22.1
Deletion
1
4
4q21.22
Deletion
3
4
4q21.22-q21.23
Deletion
1
4
4q21.22-q21.3
Deletion
1
4
4q21.23
Deletion
5
4
4q21.23-q22.1
Deletion
1
4
4q21.23-q24
Deletion
1
4
4q21.3
Deletion
5
4
4q22.1
Deletion-Duplication
25
4
4q22.1-q22.2
Duplication
4
4
4q22.2
Deletion-Duplication
15
4
4q22.2-q32.3
Duplication
1
4
4q22.3
Deletion-Duplication
13
4
4q22.3-q23
Deletion-Duplication
2
4
4q22.3-q28.3
Duplication
1
4
4q23
Deletion-Duplication
12
4
4q23-q24
Deletion-Duplication
2
4
4q24
Deletion-Duplication
12
4
4q24-q25
Duplication
2
4
4q25
Deletion-Duplication
18
4
4q25-q26
Duplication
8
4
4q26
Deletion-Duplication
12
4
4q26-q27
Duplication
4
4
4q26-q31.22
Deletion
1
4
4q26-q35.2
Duplication
1
4
4q27
Deletion
9
4
4q27-q28.1
Deletion
2
4
4q27-q35.2
Duplication
1
4
4q28.1
Deletion-Duplication
11
4
4q28.1-q28.2
Duplication
2
4
4q28.2
Deletion-Duplication
6
4
4q28.2-q28.3
Duplication
2
4
4q28.2-q31.21
Deletion
1
4
4q28.3
Deletion-Duplication
19
4
4q28.3-q31.21
Deletion
1
4
4q31.1
Deletion-Duplication
7
4
4q31.1-q31.21
Duplication
1
4
4q31.21
Deletion-Duplication
9
4
4q31.21-q31.22
Deletion
1
4
4q31.21-q31.3
Duplication
1
4
4q31.21-q33
Duplication
1
4
4q31.22
Deletion-Duplication
5
4
4q31.22-q31.3
Deletion
1
4
4q31.23
Deletion-Duplication
9
4
4q31.23-q34.1
Duplication
1
4
4q31.23-q35.2
Duplication
1
4
4q31.3
Deletion-Duplication
15
4
4q31.3-q32.1
Deletion
1
4
4q31.3-q33
Deletion
1
4
4q32-q34
Deletion
1
4
4q32.1
Deletion-Duplication
17
4
4q32.1-q32.2
Duplication
1
4
4q32.1-q35.2
Deletion
1
4
4q32.2
Deletion-Duplication
6
4
4q32.2-q32.3
Duplication
1
4
4q32.2-q34.1
Deletion
1
4
4q32.2-q35.2
Duplication
3
4
4q32.3
Deletion-Duplication
20
4
4q32.3-q34.1
Deletion
1
4
4q32.3-q35.2
Deletion-Duplication
1
4
4q33
Deletion
4
4
4q33-q34.1
Deletion
3
4
4q34.1
Deletion-Duplication
10
4
4q34.1-q34.2
Deletion
1
4
4q34.1-q34.3
Deletion-Duplication
1
4
4q34.1-q35.1
Deletion-Duplication
3
4
4q34.1-q35.2
Duplication
6
4
4q34.2
Deletion
3
4
4q34.2-q34.3
Deletion
1
4
4q34.2-q35.1
Duplication
1
4
4q34.2-q35.2
Deletion
1
4
4q34.3
Deletion-Duplication
7
4
4q34.3-q35.1
Duplication
1
4
4q34.3-q35.2
Deletion-Duplication
1
4
4q35.1
Deletion-Duplication
13
4
4q35.1-q35.2
Deletion-Duplication
12
4
4q35.2
Deletion-Duplication
48
5
5p11
Deletion-Duplication
2
5
5p12
Deletion-Duplication
10
5
5p12-p11
Deletion-Duplication
6
5
5p13.1
Deletion-Duplication
6
5
5p13.1-p11
Duplication
1
5
5p13.2
Deletion-Duplication
20
5
5p13.2-p12
Duplication
1
5
5p13.2-p13.1
Duplication
2
5
5p13.2-q11.1
Duplication
1
5
5p13.2-q12.1
Duplication
1
5
5p13.3
Deletion-Duplication
8
5
5p13.3-p13.2
Deletion
2
5
5p13.3-q11.2
Duplication
1
5
5p14.1
Deletion-Duplication
9
5
5p14.1-p13.1
Duplication
1
5
5p14.1-p13.3
Duplication
1
5
5p14.1-q11.1
Duplication
1
5
5p14.2
Deletion
5
5
5p14.2-p14.1
Deletion
2
5
5p14.3
Deletion-Duplication
13
5
5p14.3-p14.1
Deletion
1
5
5p14.3-p14.2
Deletion
5
5
5p15.1
Deletion-Duplication
12
5
5p15.1-p14.3
Deletion
1
5
5p15.2
Deletion-Duplication
37
5
5p15.2-p14.3
Deletion
1
5
5p15.2-p15.1
Duplication
4
5
5p15.3
Deletion
1
5
5p15.31
Deletion-Duplication
10
5
5p15.31-p15.2
Deletion
4
5
5p15.32
Deletion-Duplication
4
5
5p15.32-p14.3
Duplication
2
5
5p15.33
Deletion-Duplication
36
5
5p15.33-p12
Duplication
1
5
5p15.33-p13.2
Duplication
2
5
5p15.33-p13.3
Deletion
1
5
5p15.33-p14.1
Deletion
1
5
5p15.33-p14.3
Deletion
3
5
5p15.33-p15.1
Deletion
4
5
5p15.33-p15.2
Deletion
9
5
5p15.33-p15.31
Deletion
4
5
5p15.33-p15.32
Deletion
4
5
5pter
Deletion
1
5
5q11.1
Deletion-Duplication
6
5
5q11.1-q11.2
Duplication
2
5
5q11.1-q12.1
Deletion
1
5
5q11.2
Deletion-Duplication
14
5
5q11.2-q12.1
Deletion
1
5
5q11.2-q12.2
Deletion
1
5
5q11.2-q13.2
Deletion
1
5
5q12.1
Deletion-Duplication
15
5
5q12.1-q12.2
Deletion
3
5
5q12.1-q12.3
Duplication
1
5
5q12.1-q35.3
Duplication
1
5
5q12.2
Duplication
3
5
5q12.3
Deletion-Duplication
10
5
5q12.3-q13.2
Deletion
1
5
5q13.1
Deletion-Duplication
3
5
5q13.2
Deletion-Duplication
15
5
5q13.2-q13.3
Duplication
1
5
5q13.3
Deletion-Duplication
9
5
5q13.3-q14.1
Duplication
4
5
5q13.3-q22.1
Duplication
1
5
5q14.1
Deletion-Duplication
18
5
5q14.1-q14.2
Duplication
1
5
5q14.2
Deletion-Duplication
1
5
5q14.2-q14.3
Deletion
1
5
5q14.3
Deletion-Duplication
21
5
5q14.3-q15
Deletion-Duplication
2
5
5q14.3-q21.1
Deletion
1
5
5q14.3-q21.2
Deletion
1
5
5q14.3-q21.3
Deletion
2
5
5q15
Deletion-Duplication
19
5
5q15-q21.1
Duplication
2
5
5q15-q22.3
Duplication
1
5
5q21.1
Deletion-Duplication
17
5
5q21.1-q21.2
Deletion
1
5
5q21.1-q22.2
Deletion
1
5
5q21.1-q23.3
Deletion
1
5
5q21.2
Deletion
9
5
5q21.2-q21.3
Deletion-Duplication
6
5
5q21.3
Deletion-Duplication
12
5
5q21.3-q22.2
Deletion
2
5
5q21.3-q33.2
Deletion
1
5
5q22.1
Deletion-Duplication
12
5
5q22.1-q22.2
Deletion
3
5
5q22.2
Deletion-Duplication
14
5
5q22.2-q22.3
Deletion
1
5
5q22.3
Deletion
8
5
5q22.3-q23.1
Duplication
1
5
5q23.1
Deletion-Duplication
27
5
5q23.1-q23.2
Duplication
3
5
5q23.1-q31.1
Deletion
1
5
5q23.2
Deletion-Duplication
10
5
5q23.2-q23.3
Deletion
3
5
5q23.2-q31.1
Deletion
2
5
5q23.3
Deletion-Duplication
11
5
5q23.3-q31.1
Duplication
2
5
5q23.3-q33.2
Duplication
1
5
5q31.1
Deletion-Duplication
9
5
5q31.1-q31.2
Deletion
2
5
5q31.2
Deletion-Duplication
8
5
5q31.2-q31.3
Duplication
3
5
5q31.2-q32
Deletion
1
5
5q31.3
Deletion-Duplication
9
5
5q32
Deletion-Duplication
12
5
5q33.1
Deletion-Duplication
17
5
5q33.1-q35.3
Duplication
1
5
5q33.2
Deletion
6
5
5q33.2-q34
Deletion
1
5
5q33.3
Deletion-Duplication
7
5
5q33.3-q35.1
Deletion
1
5
5q33.3-q35.3
Duplication
1
5
5q34
Deletion-Duplication
7
5
5q34-q35.1
Deletion
1
5
5q35
Duplication
1
5
5q35.1
Deletion-Duplication
8
5
5q35.1-q35.2
Deletion
1
5
5q35.1-q35.3
Duplication
1
5
5q35.2
Deletion-Duplication
15
5
5q35.2-q35.3
Duplication
12
5
5q35.3
Deletion-Duplication
37
6
6p11.1
Deletion-Duplication
1
6
6p11.1-q11.1
Duplication
1
6
6p11.2
Duplication
12
6
6p11.2-p11.1
Duplication
1
6
6p11.2-q11.1
Duplication
2
6
6p12
Deletion
1
6
6p12.1
Deletion-Duplication
16
6
6p12.2
Deletion-Duplication
4
6
6p12.3
Deletion-Duplication
10
6
6p12.3-p12.2
Duplication
1
6
6p21.1
Deletion-Duplication
12
6
6p21.1-p12.3
Deletion-Duplication
1
6
6p21.2
Deletion-Duplication
10
6
6p21.2-p12.3
Deletion
1
6
6p21.2-p21.1
Deletion
1
6
6p21.31
Deletion-Duplication
12
6
6p21.31-p21.2
Duplication
1
6
6p21.32
Deletion-Duplication
26
6
6p21.33
Deletion-Duplication
15
6
6p21.33-p21.32
Deletion-Duplication
2
6
6p22.1
Deletion-Duplication
20
6
6p22.1-p21.33
Duplication
2
6
6p22.2
Deletion-Duplication
11
6
6p22.2-p22.1
Duplication
5
6
6p22.3
Deletion-Duplication
27
6
6p22.3-p21.33
Deletion
1
6
6p23
Deletion
5
6
6p23-p22.3
Deletion
7
6
6p24.1
Deletion
3
6
6p24.1-p22.3
Deletion
4
6
6p24.1-p23
Deletion
2
6
6p24.2
Deletion
4
6
6p24.2-p24.1
Deletion
1
6
6p24.3
Deletion-Duplication
9
6
6p24.3-p22.3
Deletion
1
6
6p24.3-p23
Deletion
1
6
6p24.3-p24.2
Deletion
7
6
6p25.1
Deletion
12
6
6p25.1-p24.3
Deletion
1
6
6p25.2
Deletion-Duplication
10
6
6p25.2-p22.3
Deletion
1
6
6p25.2-p24.2
Duplication
1
6
6p25.2-p25.1
Deletion
1
6
6p25.3
Deletion-Duplication
22
6
6p25.3-p21.33
Deletion
1
6
6p25.3-p22.3
Duplication
1
6
6p25.3-p23
Duplication
2
6
6p25.3-p24.3
Deletion
3
6
6p25.3-p25.1
Deletion
4
6
6p25.3-p25.2
Duplication
4
6
6q11.1
Deletion-Duplication
9
6
6q11.1-q12
Duplication
2
6
6q11.1-q14.1
Deletion
2
6
6q12
Deletion-Duplication
17
6
6q12-q13
Duplication
4
6
6q12-q14.1
Deletion
2
6
6q12-q14.3
Deletion
1
6
6q12-q16.1
Deletion
1
6
6q12.3
Duplication
1
6
6q13
Deletion
9
6
6q13-q14.1
Deletion
6
6
6q13-q14.2
Deletion
1
6
6q13-q16.1
Deletion
1
6
6q14.1
Deletion-Duplication
25
6
6q14.1-q14.3
Deletion
1
6
6q14.1-q15
Deletion
2
6
6q14.1-q16.1
Deletion
3
6
6q14.1-q16.3
Deletion
1
6
6q14.2
Deletion
2
6
6q14.2-q14.3
Duplication
3
6
6q14.2-q15
Deletion
1
6
6q14.3
Deletion-Duplication
13
6
6q14.3-q15
Duplication
1
6
6q14.3-q16.1
Deletion
1
6
6q15
Deletion-Duplication
16
6
6q15-q16.1
Deletion
3
6
6q15-q16.3
Deletion
1
6
6q16.1
Deletion-Duplication
15
6
6q16.1-q16.2
Deletion
2
6
6q16.1-q16.3
Deletion
5
6
6q16.1-q21
Deletion
1
6
6q16.1-q22.31
Deletion
1
6
6q16.2
Deletion
2
6
6q16.2-q16.3
Deletion
1
6
6q16.3
Deletion-Duplication
16
6
6q16.3-q21
Deletion
2
6
6q21
Deletion-Duplication
23
6
6q21-q22.31
Deletion
2
6
6q21-q22.33
Deletion
1
6
6q21-q23.2
Deletion
1
6
6q22.1
Deletion-Duplication
6
6
6q22.1-q22.2
Deletion
1
6
6q22.1-q22.31
Deletion
1
6
6q22.1-q22.32
N/A
1
6
6q22.1-q22.33
Deletion
1
6
6q22.2
Deletion
4
6
6q22.31
Deletion-Duplication
24
6
6q22.31-q22.33
Deletion
2
6
6q22.32
Deletion
2
6
6q22.32-q22.33
Deletion
1
6
6q22.33
Deletion-Duplication
9
6
6q23.1
Deletion
2
6
6q23.1-q23.2
Deletion
1
6
6q23.2
Deletion-Duplication
5
6
6q23.2-q23.3
Deletion
1
6
6q23.3
Deletion-Duplication
9
6
6q24.1
Deletion-Duplication
13
6
6q24.1-q24.2
Deletion
2
6
6q24.1-q27
Duplication
1
6
6q24.2
Duplication
5
6
6q24.2-q24.3
Deletion
1
6
6q24.2-q25.2
Deletion
1
6
6q24.3
Deletion
11
6
6q24.3-q25.1
Deletion
1
6
6q24.3-q27
Duplication
1
6
6q25.1
Deletion
10
6
6q25.1-q25.3
Deletion
1
6
6q25.2
Deletion-Duplication
7
6
6q25.2-q25.3
Deletion
4
6
6q25.2-q27
Deletion
3
6
6q25.3
Deletion-Duplication
21
6
6q25.3-q26
Deletion
2
6
6q25.3-q27
Deletion-Duplication
1
6
6q26
Deletion-Duplication
47
6
6q26-q27
Deletion
9
6
6q27
Deletion-Duplication
33
7
7p11.1
Deletion-Duplication
3
7
7p11.2
Duplication
16
7
7p11.2-p11.1
Duplication
3
7
7p11.2-q11.21
Duplication
2
7
7p12.1
Deletion-Duplication
12
7
7p12.1-p11.1
Deletion-Duplication
1
7
7p12.1-p11.2
Duplication
3
7
7p12.1-q11.22
Duplication
1
7
7p12.2
Deletion
2
7
7p12.2-p12.1
Duplication
1
7
7p12.3
Deletion-Duplication
15
7
7p12.3-p12.2
Duplication
1
7
7p13
Deletion
9
7
7p14.1
Deletion-Duplication
22
7
7p14.1-p13
Deletion-Duplication
2
7
7p14.2
Deletion-Duplication
5
7
7p14.3
Deletion-Duplication
20
7
7p14.3-q11.21
Duplication
1
7
7p15.1
Deletion-Duplication
9
7
7p15.1-p14.3
Duplication
1
7
7p15.2
Deletion-Duplication
13
7
7p15.2-p15.1
Deletion
2
7
7p15.3
Deletion-Duplication
12
7
7p15.3-p14.3
Deletion
1
7
7p21.1
Deletion-Duplication
28
7
7p21.1-p15.2
Duplication
1
7
7p21.1-p15.3
Deletion
3
7
7p21.2
Deletion-Duplication
12
7
7p21.2-p15.3
Deletion
1
7
7p21.2-p21.1
Deletion
1
7
7p21.3
Deletion-Duplication
30
7
7p21.3-p15.3
Deletion
1
7
7p21.3-p21.1
Deletion
1
7
7p21.3-p21.2
Duplication
1
7
7p22.1
Deletion-Duplication
21
7
7p22.1-p21.3
Duplication
4
7
7p22.2
Deletion-Duplication
20
7
7p22.2-p21.1
Duplication
1
7
7p22.2-p21.2
Duplication
1
7
7p22.2-p21.3
Duplication
1
7
7p22.2-p22.1
Duplication
7
7
7p22.3
Deletion-Duplication
18
7
7p22.3-p14.1
Duplication
1
7
7p22.3-p14.2
Duplication
1
7
7p22.3-p15.3
Duplication
1
7
7p22.3-p21.3
Duplication
2
7
7p22.3-p22.1
Deletion-Duplication
1
7
7p22.3-p22.2
Deletion
5
7
7p22.3-q36.3
Deletion
2
7
7q11.1-q11.21
Duplication
1
7
7q11.21
Deletion-Duplication
21
7
7q11.21-q11.22
Deletion-Duplication
3
7
7q11.21-q21.11
Deletion
1
7
7q11.22
Deletion-Duplication
40
7
7q11.22-q11.23
Duplication
9
7
7q11.22-q21.11
Deletion
2
7
7q11.23
Deletion-Duplication
77
7
7q11.23-q21.11
Deletion
2
7
7q21.11
Deletion-Duplication
24
7
7q21.11-q21.12
Duplication
2
7
7q21.11-q21.3
Duplication
3
7
7q21.12
Deletion-Duplication
5
7
7q21.12-q21.13
Duplication
5
7
7q21.13
Deletion-Duplication
11
7
7q21.13-q21.3
Deletion
2
7
7q21.2
Deletion
7
7
7q21.3
Deletion-Duplication
16
7
7q21.3-q22.1
Duplication
2
7
7q22
Deletion
1
7
7q22.1
Deletion-Duplication
28
7
7q22.1-q22.2
Deletion-Duplication
1
7
7q22.1-q22.3
Deletion
1
7
7q22.1-q31.1
Deletion
1
7
7q22.2
Deletion
3
7
7q22.2-q31.1
Deletion
1
7
7q22.3
Deletion
13
7
7q22.3-q31.1
Deletion
1
7
7q31.1
Deletion-Duplication
44
7
7q31.1-q31.2
Deletion
2
7
7q31.1-q31.31
Deletion
3
7
7q31.1-q31.32
Deletion
1
7
7q31.1-q31.33
Deletion
3
7
7q31.1-q32.2
Deletion
1
7
7q31.2
Deletion-Duplication
10
7
7q31.2-q31.31
Duplication
1
7
7q31.3
Deletion
1
7
7q31.31
Deletion-Duplication
12
7
7q31.31-q31.33
Deletion
1
7
7q31.31-q33
Deletion
1
7
7q31.32
Deletion
10
7
7q31.33
Deletion-Duplication
19
7
7q31.33-q32.1
Duplication
4
7
7q31.33-q32.3
Deletion
2
7
7q32.1
Deletion-Duplication
9
7
7q32.1-q33
Duplication
1
7
7q32.1-q36.3
Duplication
1
7
7q32.2
Deletion
2
7
7q32.2-q33
Deletion
1
7
7q32.3
Deletion
7
7
7q32.3-q33
Duplication
2
7
7q32.3-q36.1
Deletion
1
7
7q32.3-q36.3
Duplication
1
7
7q33
Deletion-Duplication
17
7
7q33-q34
Deletion
1
7
7q33-q35
Deletion
2
7
7q33-q36.1
Deletion
1
7
7q33-q36.3
Duplication
1
7
7q34
Deletion-Duplication
20
7
7q34-q35
Deletion
1
7
7q34-q36.1
Deletion
1
7
7q34-q36.3
Deletion
4
7
7q35
Deletion-Duplication
49
7
7q35-q36.1
Deletion-Duplication
5
7
7q35-q36.3
Deletion
2
7
7q36.1
Deletion-Duplication
31
7
7q36.1-q36.2
Duplication
9
7
7q36.1-q36.3
Deletion
7
7
7q36.2
Deletion-Duplication
27
7
7q36.2-q36.3
Deletion
3
7
7q36.3
Deletion-Duplication
30
8
8p11.1
Deletion-Duplication
5
8
8p11.1-q11.1
Duplication
1
8
8p11.1-q11.21
Duplication
1
8
8p11.2-p11.22
Duplication
1
8
8p11.21
Deletion
9
8
8p11.21-p11.1
Duplication
8
8
8p11.21-q11.21
Duplication
1
8
8p11.21-q11.23
Duplication
1
8
8p11.22
Duplication
6
8
8p11.22-p11.21
Duplication
2
8
8p11.22-q11.21
Duplication
2
8
8p11.22-q11.23
Duplication
2
8
8p11.23
Deletion-Duplication
8
8
8p11.23-p11.21
Duplication
1
8
8p11.23-p11.22
Deletion-Duplication
5
8
8p11.23-q11.21
Duplication
1
8
8p12
Deletion-Duplication
14
8
8p12-p11.1
Duplication
1
8
8p12-p11.21
Deletion-Duplication
2
8
8p12-q11.1
Duplication
1
8
8p12-q13.1
Duplication
1
8
8p13.1
Deletion
1
8
8p21.1
Deletion
4
8
8p21.1-q11.21
Duplication
1
8
8p21.2
Deletion-Duplication
9
8
8p21.2-p12
Deletion
2
8
8p21.2-q11.21
Duplication
1
8
8p21.3
Deletion-Duplication
14
8
8p21.3-p11.1
Duplication
1
8
8p21.3-p21.2
Deletion
1
8
8p22
Deletion-Duplication
44
8
8p22-p21.3
Deletion-Duplication
8
8
8p22-q11.21
Duplication
1
8
8p23.1
Deletion-Duplication
47
8
8p23.1-p11.1
Duplication
5
8
8p23.1-p11.21
Duplication
3
8
8p23.1-p12
Duplication
4
8
8p23.1-p21.1
Duplication
2
8
8p23.1-p21.2
Duplication
2
8
8p23.1-p21.3
Duplication
2
8
8p23.1-p22
Duplication
5
8
8p23.2
Deletion-Duplication
38
8
8p23.2-p23.1
Deletion-Duplication
11
8
8p23.3
Deletion-Duplication
37
8
8p23.3-p11.1
Duplication
1
8
8p23.3-p12
Duplication
1
8
8p23.3-p21.1
Deletion
2
8
8p23.3-p22
Duplication
5
8
8p23.3-p23.1
Deletion
26
8
8p23.3-p23.2
Duplication
12
8
8p23.3-q24.3
Duplication
1
8
8pter-p23.1
Deletion
1
8
8pter-p23.2
Deletion
1
8
8q11.1
Deletion-Duplication
4
8
8q11.1-q11.21
Duplication
3
8
8q11.21
Duplication
9
8
8q11.21-q11.22
Deletion
1
8
8q11.22
Deletion-Duplication
4
8
8q11.22-q11.23
Deletion
1
8
8q11.23
Deletion-Duplication
22
8
8q11.23-q12.1
Deletion
1
8
8q12.1
Deletion-Duplication
13
8
8q12.1-q12.3
Deletion
1
8
8q12.1-q21.12
Duplication
1
8
8q12.2
Deletion
2
8
8q12.2-q12.3
Duplication
2
8
8q12.3
Deletion-Duplication
7
8
8q12.3-q13.1
Deletion
2
8
8q12.3-q13.2
Deletion
2
8
8q12.3-q13.3
Deletion
2
8
8q12.3-q21.11
Deletion
1
8
8q12.3-q21.13
Duplication
1
8
8q13.1
Deletion
4
8
8q13.1-q13.2
Duplication
1
8
8q13.2
Deletion-Duplication
10
8
8q13.2-q13.3
Deletion
1
8
8q13.3
Deletion-Duplication
11
8
8q13.3-q21.11
Duplication
2
8
8q21
Deletion
1
8
8q21.11
Deletion-Duplication
9
8
8q21.11-q21.12
Duplication
1
8
8q21.11-q21.13
Deletion
3
8
8q21.11-q21.2
Deletion
1
8
8q21.12
Deletion
4
8
8q21.12-q21.3
Deletion
1
8
8q21.12-q22.1
Deletion
1
8
8q21.13
Deletion-Duplication
10
8
8q21.13-q21.2
Deletion
1
8
8q21.13-q21.3
Deletion
1
8
8q21.2
Deletion-Duplication
12
8
8q21.2-q21.3
Duplication
3
8
8q21.2-q22.1
Duplication
1
8
8q21.3
Deletion-Duplication
14
8
8q21.3-q22.1
Deletion
2
8
8q22.1
Deletion-Duplication
15
8
8q22.1-q24.3
Duplication
1
8
8q22.2
Deletion
15
8
8q22.2-q22.3
Duplication
3
8
8q22.3
Deletion-Duplication
18
8
8q23-q24.13
Duplication
1
8
8q23.1
Deletion-Duplication
6
8
8q23.1-q23.2
Duplication
2
8
8q23.1-q24.12
Deletion
2
8
8q23.2
Deletion
4
8
8q23.2-q23.3
Deletion
1
8
8q23.3
Deletion
9
8
8q23.3-q24.11
Deletion
2
8
8q23.3-q24.21
Deletion
1
8
8q23.3-q24.3
Duplication
3
8
8q24.11
Deletion
4
8
8q24.11-q24.13
Deletion
2
8
8q24.12
Deletion-Duplication
5
8
8q24.13
Deletion-Duplication
15
8
8q24.13-q24.3
Duplication
2
8
8q24.21
Deletion-Duplication
13
8
8q24.21-q24.22
Deletion
2
8
8q24.21-q24.23
Deletion
1
8
8q24.21-q24.3
Duplication
2
8
8q24.22
Deletion-Duplication
8
8
8q24.22-q24.3
Deletion
3
8
8q24.23
Deletion-Duplication
12
8
8q24.23-q24.3
Duplication
1
8
8q24.3
Deletion-Duplication
38
9
9p11.1
Duplication
1
9
9p11.2
Deletion
5
9
9p11.2-p11.1
Duplication
1
9
9p11.2-q12
Deletion
1
9
9p12
Deletion
1
9
9p13.1
Deletion
4
9
9p13.1-p12
Deletion-Duplication
3
9
9p13.1-q13
Duplication
1
9
9p13.2
Duplication
7
9
9p13.3
Deletion-Duplication
12
9
9p13.3-p13.1
Deletion
2
9
9p13.3-q21.31
Duplication
1
9
9p21.1
Deletion-Duplication
16
9
9p21.1-p11.2
Duplication
1
9
9p21.1-p13.1
Duplication
2
9
9p21.1-p13.3
Duplication
2
9
9p21.2
Deletion
7
9
9p21.3
Deletion-Duplication
16
9
9p21.3-p21.2
Deletion
4
9
9p22.1
Duplication
9
9
9p22.1-p21.2
Deletion
2
9
9p22.1-p21.3
Deletion
3
9
9p22.2
Deletion-Duplication
7
9
9p22.2-p22.1
Duplication
3
9
9p22.3
Deletion-Duplication
11
9
9p22.3-p22.2
Duplication
1
9
9p22.3-q12
N/A
1
9
9p23
Deletion-Duplication
28
9
9p23-p13.3
Duplication
1
9
9p23-p21.1
Duplication
1
9
9p23-p21.2
Duplication
1
9
9p23-p22.2
Deletion
3
9
9p23-p22.3
Deletion
4
9
9p24
Deletion
2
9
9p24.1
Deletion-Duplication
32
9
9p24.1-p23
Duplication
3
9
9p24.2
Deletion-Duplication
14
9
9p24.2-p24.1
Duplication
3
9
9p24.3
Deletion-Duplication
39
9
9p24.3-p13.1
Duplication
7
9
9p24.3-p13.3
Duplication
3
9
9p24.3-p21.3
Duplication
2
9
9p24.3-p22.1
Duplication
4
9
9p24.3-p22.2
Deletion
3
9
9p24.3-p22.3
N/A
4
9
9p24.3-p23
Deletion
10
9
9p24.3-p24.1
Deletion
6
9
9p24.3-p24.2
Deletion-Duplication
13
9
9p24.3-q21.11
Duplication
3
9
9p24.3-q34.3
Duplication
1
9
9q12
Deletion-Duplication
3
9
9q13
Deletion
4
9
9q13-q21.11
Deletion
1
9
9q13-q21.13
Deletion
2
9
9q13-q21.31
Deletion
1
9
9q21.11
Deletion-Duplication
7
9
9q21.11-q21.12
Deletion
4
9
9q21.11-q21.13
Deletion
2
9
9q21.11-q21.2
Deletion
4
9
9q21.11-q21.31
Deletion
1
9
9q21.12
Deletion-Duplication
3
9
9q21.12-q21.2
Deletion
1
9
9q21.12-q21.31
Deletion
1
9
9q21.13
Deletion-Duplication
14
9
9q21.13-q21.2
Deletion
1
9
9q21.13-q21.31
Deletion
3
9
9q21.13-q21.32
N/A
2
9
9q21.2
Deletion
5
9
9q21.31
Deletion
6
9
9q21.31-q21.32
Duplication
1
9
9q21.32
Deletion-Duplication
5
9
9q21.32-q21.33
Duplication
2
9
9q21.33
Deletion-Duplication
7
9
9q21.33-q22.2
Deletion
1
9
9q22.1
Deletion
4
9
9q22.1-q32
Duplication
1
9
9q22.2
Deletion
3
9
9q22.3
Duplication
2
9
9q22.31
Deletion-Duplication
10
9
9q22.31-q22.32
Duplication
3
9
9q22.31-q22.33
Deletion-Duplication
1
9
9q22.32
Deletion
8
9
9q22.32-q22.33
Duplication
1
9
9q22.32-q31.1
Duplication
1
9
9q22.32-q31.2
Duplication
1
9
9q22.33
Deletion-Duplication
7
9
9q22.33-q31.1
Deletion
1
9
9q22.33-q33.1
Deletion
1
9
9q31.1
Deletion-Duplication
20
9
9q31.1-q31.3
N/A
2
9
9q31.2
Deletion-Duplication
8
9
9q31.2-q33.1
Deletion
1
9
9q31.3
Deletion-Duplication
7
9
9q32
Deletion-Duplication
21
9
9q33.1
Deletion-Duplication
29
9
9q33.1-q33.2
Duplication
1
9
9q33.1-q34.12
Deletion
1
9
9q33.2
Deletion-Duplication
10
9
9q33.2-q33.3
Duplication
2
9
9q33.2-q34.3
Duplication
1
9
9q33.3
Deletion-Duplication
6
9
9q33.3-q34.11
Deletion
4
9
9q33.3-q34.13
Duplication
1
9
9q34.11
Deletion-Duplication
16
9
9q34.11-q34.12
Deletion
1
9
9q34.11-q34.13
Deletion
1
9
9q34.11-q34.3
Duplication
1
9
9q34.12
Deletion
4
9
9q34.13
Deletion-Duplication
10
9
9q34.13-q34.2
N/A
2
9
9q34.13-q34.3
Duplication
2
9
9q34.2
Deletion-Duplication
12
9
9q34.2-q34.3
Deletion-Duplication
9
9
9q34.3
Deletion-Duplication
44
9
9q34.4
Deletion
1
X
Xp11
Deletion
1
X
Xp11.1
Deletion-Duplication
3
X
Xp11.1-q11.1
Duplication
2
X
Xp11.1-q28
Deletion
1
X
Xp11.21
Deletion-Duplication
6
X
Xp11.21-p11.1
Duplication
1
X
Xp11.21-q11.1
Duplication
1
X
Xp11.21-q28
Duplication
1
X
Xp11.22
Deletion-Duplication
24
X
Xp11.22-p11.1
Duplication
1
X
Xp11.23
Deletion-Duplication
12
X
Xp11.23-p11.21
Duplication
1
X
Xp11.23-p11.22
Duplication
6
X
Xp11.3
Deletion-Duplication
19
X
Xp11.3-p11.21
Duplication
1
X
Xp11.4
Deletion-Duplication
31
X
Xp11.4-p11.23
Deletion
1
X
Xp11.4-p11.3
Deletion
5
X
Xp21.1
Deletion-Duplication
29
X
Xp21.1-p11.4
Duplication
5
X
Xp21.2
Deletion
20
X
Xp21.2-p21.1
Deletion
4
X
Xp21.3
Deletion-Duplication
12
X
Xp21.3-p21.1
Deletion
1
X
Xp21.3-p21.2
Duplication
7
X
Xp22.11
Deletion-Duplication
17
X
Xp22.11-p11.4
Deletion
1
X
Xp22.11-p21.3
Duplication
2
X
Xp22.12
Deletion-Duplication
15
X
Xp22.13
Deletion
8
X
Xp22.13-p22.12
Deletion
1
X
Xp22.2
Deletion-Duplication
21
X
Xp22.2-p22.13
Duplication
6
X
Xp22.31
Deletion-Duplication
45
X
Xp22.31-p22.2
Deletion-Duplication
1
X
Xp22.32
Deletion-Duplication
11
X
Xp22.32-p22.2
Duplication
2
X
Xp22.32-p22.31
Deletion-Duplication
3
X
Xp22.33
Deletion-Duplication
45
X
Xp22.33-p11.1
Deletion
1
X
Xp22.33-p11.2
Duplication
1
X
Xp22.33-p11.21
Deletion
4
X
Xp22.33-p11.22
Deletion-Duplication
1
X
Xp22.33-p11.23
Deletion
1
X
Xp22.33-p11.3
Duplication
1
X
Xp22.33-p21.3
Duplication
2
X
Xp22.33-p22.11
Deletion
4
X
Xp22.33-p22.12
Deletion
1
X
Xp22.33-p22.2
Duplication
5
X
Xp22.33-p22.31
Deletion
7
X
Xp22.33-p22.32
Duplication
5
X
Xp22.33-q22.1
Deletion
1
X
Xp22.33-q28
Deletion-Duplication
20
X/Y
Xp22.33/Yp11.32
Duplication
5
X/Y
Xp22.33/Yp11.32-p11.31
Duplication
2
X
Xq11.1
Deletion-Duplication
8
X
Xq11.1-q11.2
Deletion
2
X
Xq11.1-q13.1
Duplication
2
X
Xq11.1-q28
Deletion
2
X
Xq11.2
Duplication
1
X
Xq11.2-q13.1
Duplication
1
X
Xq12
Deletion-Duplication
12
X
Xq12-q13.1
Duplication
2
X
Xq12-q13.3
Duplication
2
X
Xq12-q21.1
Duplication
1
X
Xq13.1
Deletion-Duplication
15
X
Xq13.1-q13.2
Duplication
1
X
Xq13.1-q21.1
Duplication
1
X
Xq13.1-q27.1
Duplication
1
X
Xq13.2
Duplication
8
X
Xq13.2-q13.3
Duplication
5
X
Xq13.2-q21.1
Duplication
1
X
Xq13.2-q28
Deletion
1
X
Xq13.3
Deletion
12
X
Xq21.1
Deletion-Duplication
16
X
Xq21.1-q21.2
Deletion
1
X
Xq21.1-q21.31
Deletion
2
X
Xq21.1-q21.32
Deletion
1
X
Xq21.1-q22.3
Deletion
1
X
Xq21.1-q25
Duplication
1
X
Xq21.2
Deletion
4
X
Xq21.2-q21.31
Duplication
5
X
Xq21.2-q24
Duplication
1
X
Xq21.3
Deletion
1
X
Xq21.31
Deletion-Duplication
15
X
Xq21.31-q21.32
Deletion
3
X
Xq21.31-q22.3
Duplication
1
X
Xq21.32
Deletion
5
X
Xq21.33
Deletion-Duplication
9
X
Xq21.33-q22.1
Deletion
1
X
Xq22.1
Duplication
8
X
Xq22.1-q22.3
Duplication
2
X
Xq22.1-q23
Deletion-Duplication
1
X
Xq22.1-q28
Deletion
1
X
Xq22.2
Deletion-Duplication
14
X
Xq22.3
Deletion-Duplication
13
X
Xq23
Deletion-Duplication
18
X
Xq23-q28
Deletion
1
X
Xq24
Deletion-Duplication
13
X
Xq24-q25
Deletion
5
X
Xq25
Deletion-Duplication
22
X
Xq25-q26
Deletion-Duplication
1
X
Xq25-q26.2
Duplication
2
X
Xq25-q28
Deletion-Duplication
1
X
Xq26.1
Deletion
2
X
Xq26.1-q26.2
Deletion
1
X
Xq26.2
Deletion-Duplication
12
X
Xq26.2-q26.3
Deletion
1
X
Xq26.3
Deletion-Duplication
12
X
Xq26.3-q27.1
Duplication
2
X
Xq26.3-q28
Deletion
2
X
Xq27.1
Deletion-Duplication
8
X
Xq27.1-q27.2
Duplication
4
X
Xq27.1-q28
Deletion-Duplication
1
X
Xq27.2
Deletion-Duplication
9
X
Xq27.2-q28
Deletion
1
X
Xq27.3
Deletion-Duplication
13
X
Xq27.3-q28
Deletion
8
X
Xq28
Deletion-Duplication
77
Y
Yp11.2
Deletion
8
Y
Yp11.2-q11.223
Duplication
1
Y
Yp11.2-q11.23
Duplication
1
Y
Yp11.31
Duplication
3
Y
Yp11.31-p11.2
Duplication
1
Y
Yp11.31-q11.21
Duplication
1
Y
Yp11.31-q11.222
Duplication
1
Y
Yp11.31-q11.223
Duplication
2
Y
Yp11.31-q11.23
Deletion-Duplication
1
Y
Yp11.31-q12
Duplication
1
Y
Yp11.32
N/A
6
Y
Yp11.32-p11.2
Duplication
1
Y
Yp11.32-q11.21
Duplication
1
Y
Yp11.32-q11.23
Duplication
1
Y
Yp11.32-q12
Duplication
8
Y
Ypter-qter
Duplication
1
Y
Yq11.1
N/A
1
Y
Yq11.1-q12
Duplication
1
Y
Yq11.21
Duplication
2
Y
Yq11.21-q11.222
Duplication
1
Y
Yq11.21-q12
Deletion
1
Y
Yq11.22
Duplication
1
Y
Yq11.221
Duplication
3
Y
Yq11.221-q11.222
Deletion-Duplication
3
Y
Yq11.221-q11.223
Duplication
1
Y
Yq11.221-q12
Deletion
2
Y
Yq11.222
Duplication
2
Y
Yq11.222-q11.23
Duplication
1
Y
Yq11.222-q12
Deletion
1
Y
Yq11.223
Deletion-Duplication
5
Y
Yq11.223-q11.23
Duplication
3
Y
Yq11.23
Deletion-Duplication
1
Y
Yq12
Deletion
4
Animal Model Search Results
Download Animal Model
Gene Symbol
Gene Name
Model Species
Syntenic
Primary Reference
Number of Reports
Number of Models
CG1718
CG1718
Drosophila melanogaster
Ueoka I , et al. 2017
1
3
Actl6b
actin-like 6B [Mus musculus
Mus musculus
NA
Wenderski W et al. 2020
1
3
Adnp
Activity-dependent neuroprotective protein
Mus musculus
Vulih-Shultzman I , et al. 2007
9
16
Adora2a
Adenosine A2a receptor
Mus musculus
Unknown
Chen JF , et al. 1999
2
2
Ahi1
Abelson helper integration site 1
Mus musculus
Unknown
Hsiao YC , et al. 2009
4
5
Aldh5a1
Aldehyde Dehydrogenase family 5, subfamily A1
Mus musculus
Unknown
Hogema BM , et al. 2001
1
4
Ambra1
autophagy and beclin 1 regulator 1
Mus musculus
11p11.2
Dere E , et al. 2014
3
4
Ank2
ankyrin 2, brain
Mus musculus
Scotland P , et al. 1998
4
15
Ankrd11
ankyrin repeat domain 11
Mus musculus
Unknown
Barbaric I , et al. 2007
2
3
Anks1b
ankyrin repeat and sterile alpha motif domain containing 1B
Mus musculus
Carbonell AU , et al. 2019
1
2
Apba2
amyloid beta (A4) precursor protein-binding, family A, member 2
Mus musculus
Unknown
Sano Y , et al. 2009
1
2
Apc
adenomatosis polyposis coli
Mus musculus
Mohn JL , et al. 2014
1
2
App
amyloid beta (A4) precursor protein
Mus musculus
Bailey AR , et al. 2013
1
1
Arhgap32
Rho GTPase activating protein 32
Mus musculus
Nakamura T , et al. 2016
1
3
Arhgef10
Rho guanine nucleotide exchange factor (GEF) 10
Mus musculus
Lu DH , et al. 2018
1
1
Arid1b
AT rich interactive domain 1B (SWI-like)
Mus musculus
Celen C , et al. 2017
6
18
arnt2
aryl-hydrocarbon receptor nuclear translocator 2
Danio rerio
Blanchet P , et al. 2017
1
1
Arntl
aryl hydrocarbon receptor nuclear translocator-like
Mus musculus
Liu D et al. 2022
2
4
arxa
aristaless related homeobox a
Danio rerio
Yes, in zebrafish, the synteny block (PDK3-PCYT1B-POLA1-ARX) is split into pdk3a-pcyt1ba and pola1-arxa.
Ishibashi M , et al. 2015
1
4
Arx
aristaless related homeobox
Mus musculus
Unknown
Kitamura K , et al. 2002
4
5
ash1
absent, small, or homeotic discs 1
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Ash1l
ash1 (absent, small, or homeotic)-like
Mus musculus
Brinkmeier ML , et al. 2015
6
13
Aspm
assembly factor for spindle microtubules
Mus musculus
NA
NA NA
1
1
Atg7
Autophagy related 7
Mus musculus
Tang G , et al. 2014
1
2
Atp1a3
Sodium potassium ATPase alpha 3 subunit
Mus musculus
Unknown
NA NA
1
2
Atp2b2
ATPase, Ca++ transporting, plasma membrane 2
Mus musculus
Fakira AK , et al. 2012
1
1
Atrnl1
Attractin like 1
Mus musculus
Unknown
Walker WP , et al. 2007
1
3
Atrx
ATRX, chromatin remodeler
Mus musculus
et al.
1
1
auts2a
autism susceptibility candidate 2a
Danio rerio
Beunders G , et al. 2013
2
9
Auts2
Autism susceptibility candidate 2
Mus musculus
Gao Z , et al. 2014
4
21
Avp
arginine vasopressin
Rattus norvegicus
Feifel D , et al. 2004
1
6
Avpr1a
Arginine vasopressin receptor 1A
Mus musculus
Unknown
Hu SB , et al. 2003
3
2
Baiap2
brain-specific angiogenesis inhibitor 1-associated protein 2
Mus musculus
Unknown
Kim MH , et al. 2009
3
7
Bckdk
branched chain ketoacid dehydrogenase kinase
Mus musculus
Joshi MA , et al. 2006
3
3
Bckdk
branched chain ketoacid dehydrogenase kinase
Rattus norvegicus
Zigler JS Jr , et al. 2016
1
1
Bcl11a
B cell CLL/lymphoma 11A (zinc finger protein)
Mus musculus
2p16.1
Dias C , et al. 2016
3
4
Bdnf
brain derived neurotrophic factor
Mus musculus
Kyzar EJ , et al. 2012
1
1
Brinp1
BMP/RA-inducible neural-specific protein 1
Mus musculus
Unknown
Berkowicz SR , et al. 2016
2
3
Brinp3
BMP/retinoic acid inducible neural specific 3
Mus musculus
NA
Berkowicz SR et al. 2016
1
1
cac
cacophony
Drosophila melanogaster
Tong H , et al. 2016
1
4
cacna1c
calcium channel, voltage-dependent, L type, alpha 1C subunit
Danio rerio
12p13.33
Ramachandran KV , et al. 2013
1
6
Cacna1c
calcium channel, voltage-dependent, L type, alpha 1C subunit
Mus musculus
Unknown
Seisenberger C , et al. 2000
8
13
Cacna1c
calcium voltage-gated channel subunit alpha1 C
Rattus norvegicus
Unknown
Kisko TM , et al. 2018
2
1
Cacna1d
calcium channel, voltage-dependent, L type, alpha 1D subunit
Mus musculus
et al.
2
6
Cacna1f
Calcium channel, voltage dependent, alpha 1F subunit
Mus musculus
Mansergh F , et al. 2005
1
1
Cacna1g
Calcium channel, voltage dependent, T type, alpha 1G subunit
Mus musculus
Unknown
Kim D , et al. 2001
5
7
Cacna1h
calcium channel, voltage-dependent, T type, alpha 1H subunit
Mus musculus
Unknown
Chen CC , et al. 2003
1
1
stj
straightjacket
Drosophila melanogaster
Neely GG , et al. 2010
1
6
Cacna2d3
calcium channel, voltage-dependent, alpha2/delta subunit 3
Mus musculus
3p21.1-p14.3
Neely GG , et al. 2010
1
2
Cadm1
cell adhesion molecule 1
Mus musculus
Unknown
Takayanagi Y , et al. 2010
2
4
Cadps2
Ca2+-dependent activator protein for secretion 2
Mus musculus
Yes
Sadakata T , et al. 2007
5
5
Camk2a
calcium/calmodulin-dependent protein kinase II alpha
Mus musculus
Stephenson JR , et al. 2017
1
2
Caprin1
RNA granule protein 105 (Caprin 1)
Mus musculus
Unknown
Ohashi R , et al. 2016
1
2
Caskin1
CASK interacting protein 1
Mus musculus
NA NA
1
1
Cbln1
Cerebellin 1 precursor protein
Mus musculus
Hirai H , et al. 2005
3
7
Cc2d1a
Coiled-coil and C2 domain containing 1A
Mus musculus
Oaks AW , et al. 2016
2
10
Cd38
CD38 antigen
Mus musculus
Unknown
Jin D , et al. 2007
3
2
Cdk2
Cyclin-dependent kinase 2
Drosophila melanogaster
Park SM , et al. 2017
1
2
Cdkl5
cyclin-dependent kinase-like 5
Mus musculus
Wang IT , et al. 2012
3
10
Celf4
CUGBP, Elav-like family member 4
Mus musculus
Wagnon JL , et al. 2011
2
7
Celf6
CUGBP, Elav-like family member 6
Mus musculus
Dougherty JD , et al. 2013
1
1
cep290
centrosomal protein 290
Danio rerio
Migliavacca E , et al. 2015
1
2
chd2
chromodomain helicase DNA binding protein 2
Danio rerio
Suls A , et al. 2013
1
1
Chd2
chromodomain helicase DNA binding protein 2
Mus musculus
Nagarajan P , et al. 2009
2
5
Chd5
chromodomain helicase DNA binding protein 5
Mus musculus
Pisansky MT , et al. 2017
1
2
kis
kismet
Drosophila melanogaster
14q11.2
Melicharek DJ , et al. 2010
2
37
Chd7
chromodomain helicase DNA binding protein 7
Mus musculus
Tian C , et al. 2012
3
5
chd8
chromodomain helicase DNA binding protein 8
Danio rerio
Bernier R , et al. 2014
2
22
kis
kismet
Drosophila melanogaster
Melicharek DJ , et al. 2010
2
37
Chd8
chromodomain helicase DNA binding protein 8
Mus musculus
Katayama Y , et al. 2016
15
38
Cic
capicua transcriptional repressor
Mus musculus
19q13.2
Lu HC , et al. 2017
1
8
Clstn3
calsyntenin 3
Mus musculus
Pettem KL , et al. 2013
1
1
Cntn4
contactin 4
Mus musculus
Unknown
Kaneko-Goto T , et al. 2008
3
3
Cntnap1
contactin associated protein-like 1
Mus musculus
Unknown
Horresh I , et al. 2010
1
3
cntnap2a
contactin associated protein like 2a
Danio rerio
Hoffman EJ , et al. 2016
2
15
Nrx-IV
Neurexin IV
Drosophila melanogaster
Grice SJ , et al. 2015
1
8
Cntnap2
contactin associated protein-like 2
Mus musculus
Unknown
Poliak S , et al. 2003
19
50
Cntnap2
contactin associated protein-like 2
Rattus norvegicus
Unknown
Thomas AM , et al. 2016
2
1
Cntnap4
contactin associated protein-like 4
Mus musculus
Karayannis T , et al. 2014
1
7
Crhr2
Corticotropin releasing hormone receptor 2
Mus musculus
Shemesh Y , et al. 2016
1
2
Csnk1d
casein kinase 1, delta
Mus musculus
Etchegaray JP , et al. 2009
1
3
Csnk1e
casein kinase 1, epsilon
Mus musculus
Etchegaray JP , et al. 2009
1
1
ctnnb1
catenin (cadherin associated protein), beta 1
Mus musculus
Not reported
Dong F , et al. 2016
1
1
ctnnd2b
catenin (cadherin-associated protein), delta 2b
Danio rerio
Turner TN , et al. 2015
1
20
p120ctn
Adherens junction protein p120
Drosophila melanogaster
Grice SJ , et al. 2015
1
2
Ctnnd2
Catenin(cadherin associated protein), delta 2
Mus musculus
Israely I , et al. 2004
2
5
Cttnbp2
cortactin binding protein 2Â
Mus musculus
Shih PY et al. 2020
2
19
Cul3
cullin 3
Mus musculus
NA NA
5
17
Cxcr3
chemokine (C-X-C motif) receptor 3
Mus musculus
Unknown
Panzer U , et al. 2007
1
1
Cyfip1
Cytoplasmic FMR1 interacting protein 1
Mus musculus
Oguro-Ando A , et al. 2014
3
3
Dab1
Disabled homolog 1
Mus musculus
Unknown
Rice DS , et al. 2001
1
1
Dab1
DAB1, reelin adaptor protein
Rattus norvegicus
Unknown
Vomund S , et al. 2016
1
1
Dagla
diacylglycerol lipase, alpha
Mus musculus
Shonesy BC , et al. 2018
1
4
Ddx3x
DEAD-box helicase 3 X-linked
Mus musculus
NA
Boitnott A et al. 2021
1
1
Deaf1
Deformed epidermal autoregulatory factor-1
Drosophila melanogaster
Veraksa A , et al. 2002
1
17
Deaf1
Deformed epidermal autoregulatory factor 1
Mus musculus
11p15.5
Luckhart C , et al. 2016
3
9
Dhcr7
7-dehydrocholesterol reductase
Mus musculus
Fitzky BU , et al. 2001
3
5
Dhx9
DExH-box helicase 9
Mus musculus
Calame DG et al. 2023
1
1
Dip2a
disco interacting protein 2 homolog A
Mus musculus
Ma J , et al. 2019
1
2
Disc1
Disrupted in schizophrenia 1
Mus musculus
Unknown
Koike H , et al. 2006
7
13
Disc1
Disrupted in schizophrenia 1
Rattus norvegicus
Unknown
Trossbach SV , et al. 2016
1
2
dlg1
discs large 1
Drosophila melanogaster
Grice SJ , et al. 2015
2
7
Dlg4
discs, large homolog 4 (Drosophila)
Mus musculus
Unknown
Feyder M , et al. 2010
4
4
Dlgap1
DLG associated protein 1
Mus musculus
Coba MP , et al. 2018
2
4
Dlgap2
DLG associated protein 2
Mus musculus
NA
Horner AE et al. 2021
1
2
Dmd
Dystrophin, muscular dystrophy
Mus musculus
Unknown
Kudoh H , et al. 2005
5
6
Dmpk
dystrophia myotonica-protein kinase
Mus musculus
Unknown
Jansen G , et al. 1996
1
2
Dnmt3a
DNA methyltransferase 3A
Mus musculus
NA
Okano M et al. 1999
3
4
Dock4
dedicator of cytokinesis 4
Mus musculus
Guo D et al. 2022
1
1
Dpp6
dipeptidyl peptidase 6
Mus musculus
Liao C , et al. 2013
1
1
Dpysl3
dihydropyrimidinase-like 3
Mus musculus
Not known
Tsutiya A , et al. 2017
1
1
Drd1
Dopamine receptor D1
Mus musculus
Ortiz O , et al. 2010
1
2
Drd1
dopamine receptor D1
Rattus norvegicus
Homberg JR , et al. 2016
2
5
Drd3
Dopamine receptor 3
Mus musculus
Unknown
Accili D , et al. 1996
2
3
Drd4
dopamine receptor D4
Mus musculus
Unknown
Nemirovsky SI , et al. 2009
1
1
Dscam1
Down syndrome cell adhesion molecule 1
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Dscam
Down syndrome cell adhesion molecule
Mus musculus
Maynard KR and Stein E 2012
6
13
Dvl1
Dishevelled segment polarity protein 1
Mus musculus
Belinson H , et al. 2016
1
8
Dvl3
Dishevelled segment polarity protein 3
Mus musculus
Belinson H , et al. 2016
1
5
dyrk1aa
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A, a
Danio rerio
Kim OH , et al. 2017
1
2
mnb
minibrain
Drosophila melanogaster
Shaikh MN , et al. 2016
2
10
Dyrk1a
dual specificity tyrosine-Y- phosphorylation regulated kinase 1a
Mus musculus
Altafaj X , et al. 2001
5
10
kn
knot
Drosophila melanogaster
Chao HT , et al. 2016
1
15
Eef1a2
eukaryotic translation elongation factor 1 alpha 2
Mus musculus
Davies FC , et al. 2017
1
7
G9a
G9a
Drosophila melanogaster
Kramer JM , et al. 2011
2
14
Eif4e
Eukaryotic translation initiation factor 4E
Mus musculus
4q23
Santini E , et al. 2012
2
5
Eif4ebp2
eukaryotic translation initiation factor 4E binding protein 2
Mus musculus
Gkogkas CG , et al. 2012
1
5
Eif4g1
eukaryotic translation initiation factor 4, gamma 1
Mus musculus
Gonatopoulos-Pournatzis T , et al. 2020
1
2
En2
Engrailed 2
Mus musculus
Unknown
Joyner AL , et al. 1991
6
5
Epha6
Eph receptor A6
Mus musculus
Unknown
Savelieva KV , et al. 2008
1
1
Eph
Eph receptor tyrosine kinase
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Ephb2
Eph receptor B2
Mus musculus
He LN et al. 2023
1
5
Eps8
epidermal growth factor receptor pathway substrate 8
Mus musculus
NA NA
1
1
Erbb4
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
Mus musculus
Unknown
Fisahn A , et al. 2008
3
2
Erbin
Erbb2 interacting protein
Mus musculus
Tao Y , et al. 2009
1
2
Esr2
estrogen receptor 2
Rattus norvegicus
Zou Y , et al. 2017
1
1
Esrrb
Estrogen related receptor, beta
Mus musculus
Unknown
Chen J and Nathans J 2007
1
2
Ext1
exostoses (multiple) 1
Mus musculus
Irie F , et al. 2012
1
1
fam19a1
family with sequence similarity 19 member A1, C-C motif chemokine like
Danio rerio
Ariyasiri K , et al. 2018
1
1
FAM19A3
family with sequence similarity 19, member A3
Mus musculus
Kim S , et al. 2017
1
2
Fezf2
Fez family zinc finger 2
Mus musculus
Unknown
Hirata T , et al. 2004
1
1
Fgfr2
fibroblast growth factor receptor 2
Mus musculus
Szczurkowska J , et al. 2018
1
6
fmr1
fragile X mental retardation 1
Danio rerio
den Broeder MJ , et al. 2009
3
3
Fmr1
CG6203 gene product from transcript CG6203-RC
Drosophila melanogaster
Dockendorff TC , et al. 2002
9
56
Fmr1
fragile X mental retardation syndrome 1 homolog
Mus musculus
Unknown
no authors 1994
41
64
Fmr1
fragile X mental retardation syndrome 1 homolog
Rattus norvegicus
Unknown
Hamilton SM , et al. 2014
4
3
Folh1
folate hydrolase
Mus musculus
-
Han L , et al. 2009
2
4
Foxg1
Forkhead box G1
Mus musculus
Unknown
Eagleson KL , et al. 2007
4
8
Foxp1
forkhead box P1
Mus musculus
Unknown
Bacon C , et al. 2014
6
9
FoxP
Forkhead box P
Drosophila melanogaster
DasGupta S , et al. 2014
2
14
Foxp2
forkhead box P2
Mus musculus
Unknown
Shu W , et al. 2005
5
8
Gabbr1
gamma-aminobutyric acid type B receptor subunit 1
Mus musculus
et al.
1
1
Gabra5
Gamma-aminobutyric acid (GABA) A receptor, subunit alpha 5
Mus musculus
Unreported
Zurek AA , et al. 2016
1
1
Gabrb1
gamma-aminobutyric acid type A receptor subunit beta 1
Mus musculus
Wang J et al. 2023
1
3
Gabrb2
gamma-aminobutyric acid (GABA) A receptor, subunit beta 2
Mus musculus
1
8
Lcch3
Ligand-gated chloride channel homolog 3
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Gabrb3
gamma-aminobutyric acid (GABA) A receptor, subunit beta 3
Mus musculus
Unknown
DeLorey TM , et al. 1998
8
22
Gad1
glutamate decarboxylase 1
Mus musculus
NA NA
1
1
Gadd45b
growth arrest and DNA-damage-inducible 45 beta
Mus musculus
Leach PT , et al. 2012
1
1
Gadd45b
growth arrest and DNA-damage-inducible, beta
Rattus norvegicus
Kigar SL , et al. 2015
1
1
Gap43
growth associated protein 43
Mus musculus
Unknown
Zaccaria KJ , et al. 2010
1
1
Gigyf1
GRB10 interacting GYF protein 1
Mus musculus
Chen G et al. 2022
2
6
Gyf
Gigyf
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Glra2
glycine receptor, alpha 2 subunit
Mus musculus
Unknown
Young-Pearse TL , et al. 2006
1
1
Galphaq
G protein alpha q subunit
Drosophila melanogaster
Park SM , et al. 2017
1
2
Gria2
Glutamate receptor, ionotropic, AMPA 2
Mus musculus
Unknown
Chung HJ , et al. 2003
1
1
Grid1
glutamate receptor, ionotropic, delta 1
Mus musculus
Yadav R , et al. 2012
1
1
Grid2
glutamate receptor, ionotropic, delta 2
Mus musculus
Hills LB , et al. 2013
1
2
Grik2
glutamate receptor, ionotropic, kainate 2 (beta 2)
Mus musculus
Lanore F , et al. 2012
2
4
Grik4
Glutamate receptor, ionotropic, kainate 4
Mus musculus
NA NA
4
12
Grin1
glutamate receptor, ionotropic, NMDA1 (zeta 1)
Mus musculus
Gandal MJ , et al. 2012
3
7
Nmdar2
NMDA receptor 2
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Grin2b
glutamate receptor, ionotropic, NMDA2B (epsilon 2)
Mus musculus
Brigman JL , et al. 2010
6
11
Grip1
glutamate receptor interacting protein 1
Mus musculus
Unknown
Takamiya K , et al. 2004
2
3
Grm5
glutamate receptor, metabotropic 5
Mus musculus
Lu YM , et al. 1997
3
12
Grm8
glutamate receptor, metabotropic 8
Mus musculus
Unknown
Duvoisin RM , et al. 2005
1
1
Grpr
gastrin releasing peptide receptor
Mus musculus
Unknown
Wada E , et al. 1997
3
5
Gsc2
goosecoid homebox 2
Mus musculus
Unknown
Long JM , et al. 2006
1
1
Gsk3b
glycogen synthase kinase 3 beta
Mus musculus
Unknown
Mines MA , et al. 2010
1
1
Gstm1
Glutathione S-transferase, mu 1
Mus musculus
Unknown
Yochum CL , et al. 2010
1
1
Gtf2i
general transcription factor II I
Mus musculus
Unknown
Sakurai T , et al. 2011
1
2
Hcn1
hyperpolarization-activated cyclic nucleotide-gated potassium channel 1
Rattus norvegicus
Ohno Y , et al. 2015
1
4
Hdac3
Histone deacetylase 3
Mus musculus
5q31
Nott A , et al. 2016
1
1
Hdac4
Histone deacetylase 4
Mus musculus
Unknown
Vega RB , et al. 2004
1
2
Hdc
histidine decarboxylase
Mus musculus
Castellan Baldan L , et al. 2014
2
20
hgfa
hepatocyte growth factor a
Danio rerio
Elsen GE , et al. 2009
1
2
Hmgn1
High mobility group nucleosomal binding domain 1
Mus musculus
Unknown
Abuhatzira L , et al. 2011
1
2
Hnrnpu
heterogeneous nuclear ribonucleoprotein U
Mus musculus
Sapir T et al. 2022
2
7
Homer1
homer homolog 1
Mus musculus
NA NA
3
4
Homer1
homer scaffolding protein 1
Rattus norvegicus
Banerjee A , et al. 2016
1
2
Homer2
homer homolog 2
Mus musculus
Szumlinski KK , et al. 2004
1
1
Homer3
homer homolog 3
Mus musculus
Szumlinski KK , et al. 2004
1
1
Hoxa1
Homeobox A1
Mus musculus
Unknown
Lufkin T , et al. 1991
2
3
Gp93
Glycoprotein 93
Drosophila melanogaster
Park SM , et al. 2017
1
2
Htr1b
5-hydroxytryptamine (serotonin) receptor 1B
Mus musculus
Unknown
Saudou F , et al. 1994
1
2
Htr2a
5-hydroxytryptamine (serotonin) receptor 2A
Mus musculus
Unknown
Weisstaub NV , et al. 2006
2
4
Htr3a
5-hydroxytryptamine (serotonin) receptor 3A
Mus musculus
Unknown
Bhattacharya A , et al. 2004
2
3
Ifng
Interferon gamma
Mus musculus
Filiano AJ , et al. 2016
1
3
Ifngr1
Interferon gamma receptor 1
Mus musculus
Filiano AJ , et al. 2016
1
1
Il1rapl1
interleukin 1 receptor accessory protein-like 1
Mus musculus
Unknown
Pavlowsky A , et al. 2010
2
2
Immp2l
IMP2 inner mitochondrial membrane peptidase-like
Mus musculus
Unknown
Lu B , et al. 2007
1
2
Iqsec2
IQ motif and Sec7 domain 2
Mus musculus
X-linked
Rogers EJ , et al. 2019
1
1
Itgb3
integrin beta 3
Mus musculus
Unknown
Carter MD , et al. 2011
2
2
Jakmip1
janus kinase and microtubule interacting protein 1
Mus musculus
syntenic with part of mouse chromosome 5,
NA NA
1
1
kcnj10
ATP-sensitive inward rectifier potassium channel 10
Danio rerio
Sicca F , et al. 2016
1
8
Irk1
Inwardly rectifying potassium channel 2
Drosophila melanogaster
DasGupta S , et al. 2014
1
4
Kcnma1
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
Mus musculus
Yes
Sausbier M , et al. 2004
3
3
Kcnq2
potassium voltage-gated channel, subfamily Q, member 2
Mus musculus
Unknown
Hawkins NA , et al. 2010
1
1
kctd13
potassium channel tetramerization domain containing 13
Danio rerio
Golzio C , et al. 2012
4
13
CG10465
CG10465
Drosophila melanogaster
Iyer J , et al. 2018
1
11
Kctd13
potassium channel tetramerisation domain containing 13
Mus musculus
16p11.2
Escamilla CO , et al. 2017
2
6
Kdm2b
lysine (K)-specific demethylase 2B
Mus musculus
Gao Y et al. 2022
1
2
Kdm5a
lysine demethylase 5A
Mus musculus
NA
El Hayek L et al. 2020
1
1
Kdm5b
lysine (K)-specific demethylase 5B
Mus musculus
Martin HC et al. 2018
2
2
Kdm5c
lysine (K)-specific demethylase 5C
Mus musculus
Yes
Bonefas KM et al. 2023
1
3
kdm6a
lysine (K)-specific demethylase 6A
Danio rerio
Lindgren AM , et al. 2013
1
3
Kdm6b
KDM1 lysine (K)-specific demethylase 6B
Mus musculus
Gao Y et al. 2022
1
3
Kirrel3
kirre like nephrin family adhesion molecule 3
Mus musculus
Hisaoka T , et al. 2018
1
1
Klf7
Kruppel-like factor 7 (ubiquitous)
Mus musculus
Tian H et al. 2022
2
7
Kmt2a
Lysine (K)-specific methyltransferase 2A
Mus musculus
Shen EY , et al. 2016
3
4
trr
trithorax-related
Drosophila melanogaster
Koemans TS , et al. 2017
1
1
Kmt2c
lysine (K)-specific methyltransferase 2C
Mus musculus
Brauer B et al. 2023
1
1
Kmt2e
Lysine (K)-specific methyltransferase 2E
Mus musculus
Li YJ et al. 2023
1
1
Hmt4-20
Histone methyltransferase 4-20
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Kmt5b
lysine methyltransferase 5B
Mus musculus
NA
Wickramasekara RN et al. 2021
2
2
LanB2
Laminin B2
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
lat
linker for activation of T cells
Danio rerio
Loviglio MN , et al. 2017
1
12
Lrfn2
leucine rich repeat and fibronectin type III domain containing 2
Mus musculus
Morimura N , et al. 2017
1
2
Lrrc4
leucine rich repeat containing 4
Mus musculus
Um SM , et al. 2018
1
4
Lrrc7
Leucine rich repeat containing 7
Mus musculus
Unknown
Carlisle HJ , et al. 2011
1
1
Magel2
melanoma antigen, familyL,2
Mus musculus
Kozlov SV , et al. 2007
3
1
Maoa
Monoamine Oxidase A
Mus musculus
Unknown
Cases O , et al. 1995
3
3
Map1b
microtubule-associated protein 1B
Mus musculus
Guo Y et al. 2023
1
1
Mapk1
mitogen-activated protein kinase 1
Mus musculus
Unknown
Satoh Y , et al. 2011
1
1
mapk3
mitogen-activated protein kinase 3
Danio rerio
Golzio C , et al. 2012
2
2
rl
rolled
Drosophila melanogaster
Park SM , et al. 2017
3
24
Mapk8ip2
mitogen-activated protein kinase 8 interacting protein 2
Mus musculus
Yes
Giza J , et al. 2010
1
1
Mbd2
methyl-CpG binding domain protein 2
Mus musculus
Unknown
Hendrich B , et al. 2001
1
2
Mbd3
methyl-CpG binding domain protein 3
Mus musculus
Unknown
Hendrich B , et al. 2001
1
1
Mboat7
membrane bound O-acyltransferase domain containing 7
Mus musculus
NA
Lee HC et al. 2012
1
1
Mcph1
microcephaly, primary autosomal recessive 1
Mus musculus
Unknown
Liang Y , et al. 2010
1
2
Mdga2
MAM domain containing glycosylphosphatidylinositol anchor 2
Mus musculus
Connor SA , et al. 2016
1
2
mecp2
methyl CpG binding protein 2
Danio rerio
Leong WY , et al. 2016
2
13
hMECP2
methyl-CpG binding protein 2
Drosophila melanogaster
Cukier HN , et al. 2008
1
113
Mecp2
methyl CpG binding protein 2
Mus musculus
Yes
NA NA
35
95
Mecp2
methyl CpG binding protein 2
Rattus norvegicus
Unknown
Engineer CT , et al. 2015
6
3
Mef2c
myocyte enhancer factor 2C
Mus musculus
Unknown
Vong LH , et al. 2005
5
13
met
MET proto-oncogene, receptor tyrosine kinase
Danio rerio
Elsen GE , et al. 2009
1
1
Met
met proto-oncogene
Mus musculus
Unknown
Bladt F , et al. 1995
7
10
Mir137
microRNA 137
Mus musculus
Cheng Y , et al. 2018
1
6
Mthfr
methylenetetrahydrofolate reductase
Mus musculus
Sadigurschi N and Golan HM 2018
2
4
Mtor
mechanistic target of rapamycin kinase
Mus musculus
NA
Rial D et al. 2020
1
3
myt1la
myelin transcription factor 1-like, a
Danio rerio
Blanchet P , et al. 2017
1
2
Myt1l
Myelin transcription factor 1-like protein
Mus musculus
Na
Chen J et al. 2021
3
5
NAT1
NAT1
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
nbeaa
neurobeachin
Danio rerio
13q13.3
Miller AC , et al. 2014
1
10
rg
rugose
Drosophila melanogaster
13q13.3
Wise A , et al. 2015
1
13
Nbea
neurobeachin
Mus musculus
Unknown
Medrihan L , et al. 2009
3
3
Hem
HEM-protein
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Smr
Smrter
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Negr1
neuronal growth regulator 1
Mus musculus
Singh K , et al. 2018
2
9
Neurod2
neurogenic differentiation 2
Mus musculus
NA
Runge K et al. 2021
1
3
Nexmif
neurite extension and migration factor
Mus musculus
Gilbert J , et al. 2019
1
1
Nf1
Neurofibromin 1
Drosophila melanogaster
Bai L , et al. 2018
1
21
Nf1
neurofibramatosis 1
Mus musculus
Unknown
Brannan CI , et al. 1994
6
10
Nlgn1
neuroligin 1
Mus musculus
Unknown
Varoqueaux F , et al. 2006
7
10
Nlg2
Neuroligin 2
Drosophila melanogaster
Corthals K , et al. 2017
1
1
Nlgn2
neuroligin 2
Mus musculus
Whr M , et al. 2012
2
4
Nlgn2
neuroligin 2
Rattus norvegicus
Kohl C , et al. 2013
1
1
dnl2
Neuroligin 2
Drosophila melanogaster
Hahn N , et al. 2013
1
1
Nlgn3
neuroligin 3
Mus musculus
Yes
Tabuchi K , et al. 2007
23
50
Nlgn3
neuroligin 3
Rattus norvegicus
Yes
Hamilton SM , et al. 2014
3
1
Nlg4
Neuroligin 4
Drosophila melanogaster
Dong T , et al. 2016
2
2
Nlgn4x
neuroligin 4-like
Mus musculus
Unknown
Jamain S , et al. 2008
2
3
Nos2
Nitric oxide synthase 2, inducible
Mus musculus
Unknown
Arnett HA , et al. 2001
3
1
Npas2
neuronal PAS domain protein 2
Mus musculus
Unknown
Garcia JA , et al. 2000
3
2
Nr2f1
nuclear receptor subfamily 2 group F member 1
Mus musculus
NA
Zhang K et al. 2020
1
2
Nr3c2
nuclear receptor subfamily 3, group C, member 2
Mus musculus
Unknown
Berger S , et al. 2005
2
2
Nrcam
neuron-glia-CAM-related cell adhesion molecule
Mus musculus
Unknown
Moy SS , et al. 2009
1
1
Nrg1
neuregulin 1
Mus musculus
Ehrlichman RS , et al. 2009
1
1
Nrp2
neuropilin 2
Mus musculus
Unknown
Giger RJ , et al. 2000
2
4
Nrx-1
Neurexin 1
Drosophila melanogaster
Larkin A , et al. 2015
3
60
Nrxn1
Neurexin 1
Mus musculus
Unknown
Geppert M , et al. 1998
3
7
Nrxn1
neurexin 1
Rattus norvegicus
Unknown
Esclassan F , et al. 2014
3
2
Nrxn2
Neurexin 2
Mus musculus
Dachtler J , et al. 2014
2
3
Ntng1
Netrin G1
Mus musculus
Unknown
Nishimura-Akiyoshi S , et al. 2007
1
1
Ntng2
Netrin G2
Mus musculus
Unknown
Nishimura-Akiyoshi S , et al. 2007
1
1
Nuak1
NUAK family, SNF1-like kinase, 1
Mus musculus
Unknown
Courchet V , et al. 2018
1
6
Ophn1
Oligophrenin 1
Mus musculus
Unknown
Khelfaoui M , et al. 2007
1
1
Oprm1
opioid receptor, mu 1
Mus musculus
Human 6q24-q25; chr6:154010496-154246867
Gigliucci V , et al. 2014
2
3
Otud7a
OTU domain containing 7A
Mus musculus
15q13.3
Yin J , et al. 2018
1
2
Oxt
oxytocin
Mus musculus
Chromosome 3p25
Ferguson JN , et al. 2000
2
7
Oxtr
Oxytocin receptor
Mus musculus
Unknown
Takayanagi Y , et al. 2005
7
17
P2rx4
purinergic receptor P2X, ligand-gated ion channel 4
Mus musculus
Wyatt LR , et al. 2013
1
2
pacs1a
phosphofurin acidic cluster sorting protein 1a
Danio rerio
Schuurs-Hoeijmakers JH , et al. 2012
1
2
Pafah1b1
platelet-activating factor acetylhydrolase, isoform 1b, subunit 1
Mus musculus
Sudarov A , et al. 2013
1
2
Pak2
p21 (RAC1) activated kinase 2
Mus musculus
Wang Y , et al. 2018
1
3
baz
bazooka
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
PAX5
Paired box 5
Mus musculus
Urbánek P et al. 1994
2
4
Pax6
paired box 6
Rattus norvegicus
Umeda T , et al. 2011
2
2
Pcdh10
protocadherin 10
Mus musculus
Unknown
Uemura M , et al. 2007
2
3
Pcdh19
protocadherin 19
Mus musculus
Hayashi S , et al. 2017
1
4
Pcdh19
protocadherin 19
Rattus norvegicus
Bassani S , et al. 2018
1
2
Pclo
piccolo (presynaptic cytomatrix protein)
Mus musculus
Nitta A et al. 2021
1
2
Per1
Period homolog 1
Mus musculus
Unknown
Zheng B , et al. 2001
1
1
Pglyrp2
peptidoglycan recognition protein 2
Mus musculus
Arentsen T , et al. 2016
1
1
Pik3r6
phosphoinositide-3-kinase, regulatory subunit 6
Mus musculus
Unknown
Sasaki T , et al. 2000
1
2
Pitx1
paired-like homeodomain transcription factor 1
Mus musculus
Unknown
Lancta't C , et al. 1999
1
1
Plaur
plasminogen activator, urokinase receptor
Mus musculus
Unknown
Powell EM , et al. 2003
1
1
Pln
Phospholamban
Mus musculus
Unknown
Luo W , et al. 1994
1
1
Plppr4
phospholipid phosphatase related 4
Mus musculus
Trimbuch T , et al. 2009
3
8
PlexB
Plexin B
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
row
relative of woc
Drosophila melanogaster
Stessman HA , et al. 2016
1
2
Pogz
pogo transposable element with ZNF domain
Mus musculus
Matsumura K , et al. 2020
4
8
Pou3f2
POU domain class 3 transcription factor 2
Mus musculus
Belinson H , et al. 2016
1
2
Prickle1
prickle homolog 1 (Drosophila)
Mus musculus
Tao H , et al. 2011
2
7
Prickle2
prickle homolog 2 (Drosophila)
Mus musculus
Tao H , et al. 2011
2
2
Prkcb
Protein Kinase C, beta
Mus musculus
Unknown
Leitges M , et al. 1996
1
1
Prkdc
Protein kinase, DNA activated, catalytic peptide
Mus musculus
Filiano AJ , et al. 2016
1
2
Prkn
parkin RBR E3 ubiquitin protein ligase
Mus musculus
Unknown
Stichel CC , et al. 2007
2
2
Prkn
parkin RBR E3 ubiquitin protein ligase
Rattus norvegicus
Unknown
Gemechu JM , et al. 2018
1
1
Ptchd1
Patched domain containing 1
Mus musculus
Wells MF , et al. 2016
3
9
Pten
Phosphatase and tensin homolog
Drosophila melanogaster
Radimerski T , et al. 2002
2
5
Pten
phosphatase and tensin homolog
Mus musculus
Unknown
Kwon CH , et al. 2006
20
34
Pten
phosphatase and tensin homolog
Rattus norvegicus
Rowley PA , et al. 2018
1
1
Ptgs2
prostaglandin-endoperoxide synthase 2
Mus musculus
Wong CT , et al. 2018
1
1
Pvalb
Parvalbumin
Mus musculus
Whr M , et al. 2015
1
3
Rab39b
RAB39B, member RAS oncogene family
Mus musculus
NA
Zhang W et al. 2020
1
2
Rai1
retinoic acid induced 1
Mus musculus
Unknown
Bi W , et al. 2005
3
12
Rapgef4
Rap guanine nucleotide exchange factor (GEF) 4
Mus musculus
Unknown
Shibasaki T , et al. 2007
2
2
Rasd1
RAS, dexamethasone induced 1
Mus musculus
Lacaria M , et al. 2013
1
2
Rbfox1
RNA binding protein, fox-1 homolog
Mus musculus
Unknown
Gehman LT , et al. 2011
2
4
Rbfox2
RNA binding protein, fox-1 homolog
Mus musculus
Unknown
Gehman LT , et al. 2011
1
1
Reln
Reelin
Mus musculus
Unknown
Rice DS , et al. 2001
9
9
rheb
Ras homolog, mTORC1 binding
Danio rerio
Reijnders MRF , et al. 2017
1
6
Rheb
Ras homolog enriched in brain
Drosophila melanogaster
Brown HL , et al. 2012
1
2
Rheb
Ras homolog enriched in brain
Mus musculus
Reijnders MRF , et al. 2017
1
3
Rims1
regulating synaptic membrane exocytosis 1
Mus musculus
6q13
Schoch S , et al. 2002
4
10
rlim
ring finger protein, LIM domain interacting
Danio rerio
Frints SGM , et al. 2018
1
11
roraa
RAR-related orphan receptor A, paralog a
Danio rerio
Guissart C , et al. 2018
1
25
rpl10
ribosomal protein L10
Danio rerio
Xq28
Brooks SS , et al. 2014
1
11
Rps6ka3
ribosomal protein S6 kinase polypeptide 3
Mus musculus
Morice E , et al. 2013
1
1
S6k
Ribosomal protein S6 kinase
Drosophila melanogaster
64E8-64E11
Radimerski T , et al. 2002
1
3
Rps6kb1
ribosomal protein S6 kinase, polypeptide 1
Mus musculus
Bhattacharya A , et al. 2012
1
1
Scgn
secretagogin, EF-hand calcium binding protein
Mus musculus
Liu Z et al. 2023
1
3
Scn1a
sodium channel, voltage-gated, type I, alpha
Mus musculus
Unknown
Ogiwara I , et al. 2007
7
19
Scn1a
sodium channel, voltage-gated, type I, alpha
Rattus norvegicus
Unknown
Ohmori I , et al. 2014
1
2
para
paralytic
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Scn2a
sodium channel, voltage-gated, type II, alpha I
Mus musculus
Unknown
Planells-Cases R , et al. 2000
6
9
Scn8a
sodium channel, voltage-gated, type VIII, alpha
Mus musculus
Unknown
Hawkins NA , et al. 2010
1
1
Sema3f
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F
Mus musculus
Li Z , et al. 2019
1
3
Sema5a
Sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
Mus musculus
Unknown
Fiore R , et al. 2005
1
1
Senp1
SUMO1/sentrin specific peptidase 1
Mus musculus
Cheng J et al. 2007
2
4
Setd5
SET domain containing 5
Mus musculus
Deliu E , et al. 2018
3
4
Sgsh
N-sulfoglucosamine sulfohydrolase (sulfamidase)Â
Mus musculus
NA
De Risi M et al. 2021
1
5
Sh3rf2
SH3 domain containing ring finger 2
Mus musculus
Wang S , et al. 2018
1
2
Shank1
SH3/ankyrin domain gene 1
Mus musculus
Unknown
Hung AY , et al. 2008
4
4
Shank2
SH3/ankyrin domain gene 2
Mus musculus
Schmeisser MJ , et al. 2012
9
24
Shank2
SH3 and multiple ankyrin repeat domains 2
Rattus norvegicus
Modi ME , et al. 2018
1
5
shank3b
SH3 and multiple ankyrin repeat domains 3b
Danio rerio
Kozol RA , et al. 2015
2
5
Shank3
SH3/ankyrin domain gene 3
Mus musculus
Unknown
Bozdagi O , et al. 2010
40
107
Shank3
SH3 and multiple ankyrin repeat domains 3
Rattus norvegicus
Unknown
Harony-Nicolas H , et al. 2017
3
4
Sin3A
Sin3A
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Slc16a8
solute carrier family 16 (monocarboxylic acid transporters), member 8
Mus musculus
Daniele LL , et al. 2008
1
1
Slc1a2
solute carrier family 1 (glial high affinity glutamate transporter), member 2
Mus musculus
Aida T , et al. 2015
1
8
Slc25a12
solute carrier family 25 (Mitochondrial carrier, Aralar), member 12
Mus musculus
Unknown
Jalil MA , et al. 2005
2
4
Slc30a3
Solute carrier family 30 (zinc transporter), member 3
Mus musculus
2p23.3
Yoo MH , et al. 2016
1
2
SLC33A1
Solute carrier family 33 member 1
Mus musculus
Unknown
Hullinger R , et al. 2016
1
2
Slc35g1
Solute carrier family 35, member G1
Mus musculus
Wang J et al. 2023
1
2
Slc4a10
solute carrier family 4, sodium bicarbonate cotransporter-like, member 10
Mus musculus
Unknown
Jacobs S , et al. 2008
1
1
Slc6a1
Solute carrier family 6
Mus musculus
Gong N , et al. 2009
1
1
DAT
Dopamine transporter
Drosophila melanogaster
Hamilton PJ , et al. 2013
2
6
Slc6a3
solute carrier family 6 (neurotransmitter transporter), member 3
Mus musculus
NA NA
6
15
Slc6a3
solute carrier family 6 member 3
Rattus norvegicus
Hadar R , et al. 2016
1
4
Slc6a4
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
Mus musculus
Unknown
Lira A , et al. 2003
7
14
Slc6a4
solute carrier family 6 member 4
Rattus norvegicus
Homberg JR , et al. 2007
2
3
Slc6a8
Solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Mus musculus
Xq28
Baroncelli L , et al. 2016
1
2
Slc7a5
solute carrier family 7 (cationic amino acid transporter, y+ system), member 5
Mus musculus
Tafrlungeanu DC , et al. 2016
2
3
Slc9a6
solute carrier family 9 (sodium/hydrogen exchanger), member 6
Mus musculus
Ouyang Q , et al. 2013
3
3
Slc9a9
solute carrier family 9 (sodium/hydrogen exchanger), member 9
Mus musculus
Chromosome 3
Ullman JC , et al. 2018
1
3
Slitrk2
SLIT and NTRK-like family, member 2
Mus musculus
Katayama KI et al. 2022
2
7
Slitrk5
SLIT and NTRK-like family, member 5
Mus musculus
Shmelkov SV , et al. 2010
1
2
Spast
Spastin
Mus musculus
Tarrade A , et al. 2006
1
1
SPTBN1
Spectrin beta, non-erythrocytic 1
Mus musculus
NA
Lorenzo DN et al. 2019
2
4
dom
domino
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Srrm4
serine/arginine repetitive matrix 4
Mus musculus
12q24.23
Quesnel-Vallires M , et al. 2016
1
2
St8sia2
ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2
Mus musculus
Unknown
Angata K , et al. 2004
3
5
Stat1
Signal transducer and activator of transcription 1
Mus musculus
Filiano AJ , et al. 2016
1
2
Stk39
Seine/threonin kinase 39, STE20/SPS1 homolog (yeast)
Mus musculus
Unknown
Geng Y , et al. 2009
1
1
Stxbp1
syntaxin binding protein 1
Mus musculus
Human 9q34.11
Kovacevic J , et al. 2018
1
6
Sybu
syntabulin (syntaxin-interacting)
Mus musculus
8q23.2
Xiong GJ et al. 2020
1
1
Syn1
Synapsin I
Mus musculus
Greco B , et al. 2013
2
1
Syn2
Synapsin II
Mus musculus
Greco B , et al. 2013
2
3
Syn3
Syapsin III
Mus musculus
Greco B , et al. 2013
2
2
syngap1b
synaptic Ras GTPase activating protein 1a
Danio rerio
6p21.32
Kozol RA , et al. 2015
1
6
CG42684
CG42684
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Syngap1
synaptic Ras GTPase activating protein 1 homolog (rat)
Mus musculus
Unknown
Kim JH , et al. 2003
9
16
Tao
Tao
Drosophila melanogaster
Iyer J , et al. 2018
1
5
Taok2
TAO kinase 2
Mus musculus
Richter M , et al. 2018
2
12
Tbr1
T-box brain gene1
Mus musculus
Hevner RF , et al. 2001
10
31
org-1
optomotor-blind-related-gene-1
Drosophila melanogaster
Grice SJ , et al. 2015
1
7
Tbx1
T-box1
Mus musculus
Unknown
Long JM , et al. 2006
2
1
Tcf20
transcription factor 20
Mus musculus
22q13.2
Feng C et al. 2020
1
5
da
daughterless
Drosophila melanogaster
Stessman HA , et al. 2017
1
1
Tcf4
transcription factor 4
Mus musculus
Kennedy AJ , et al. 2016
3
7
Tcf4
transcription factor 4
Rattus norvegicus
Rannals MD , et al. 2016
2
5
Tcf7l2
transcription factor 7 like 2, T cell specific, HMG box
Mus musculus
Qi H et al. 2023
2
16
Tert
Telomerase reverse transcriptase
Mus musculus
Kim KC , et al. 2015
1
2
Tet2
Tet methylcytosine dioxygenase 2
Mus musculus
Xu X et al. 2023
1
6
Thra
thyroid hormone receptor alpha
Mus musculus
Unknown
Pilhatsch M , et al. 2010
1
1
Top3beta
Topoisomerase 3beta
Drosophila melanogaster
Ahmad M , et al. 2017
1
4
Top3b
Topoisomerase (DNA) III beta
Mus musculus
Kwan KY and Wang JC 2001
3
3
Tph2
Tryptophan hydroxylase 2
Mus musculus
Kane MJ , et al. 2012
2
3
trappc6b
trafficking protein particle complex 6b
Danio rerio
Marin-Valencia I , et al. 2017
1
8
Trim32
Tripartite motif-containing 32
Mus musculus
Zhu JW , et al. 2019
2
4
Trio
triple functional domain (PTPRF interacting)
Mus musculus
Katrancha SM , et al. 2019
1
2
ctrip
circadian trip
Drosophila melanogaster
Stessman HA , et al. 2017
1
2
Trpc6
Transient receptor potential cation channel, subfamily C, member 6
Mus musculus
Griesi-Oliveira K , et al. 2014
1
4
Trpv1
transient receptor potential cation channel, subfamily V, member 1
Mus musculus
Caterina MJ , et al. 2000
1
1
Tsc1
Tsc1
Drosophila melanogaster
Radimerski T , et al. 2002
2
11
Tsc1
Tuberous sclerosis 1
Mus musculus
Unknown
Kwiatkowski DJ , et al. 2002
14
40
Tsc2
tuberous sclerosis 2
Mus musculus
Unknown
Onda H , et al. 1999
10
25
Tsc2
tuberous sclerosis 2
Rattus norvegicus
Unknown
Waltereit R , et al. 2005
3
3
Tshz1
teashirt zinc finger family member 1
Mus musculus
Kuerbitz J et al. 2018
1
3
Tshz3
Teashirt zinc finger family member 3
Mus musculus
Caubit X , et al. 2016
2
4
Tyr
Tyrosinase
Mus musculus
Unknown
Hamilton SM , et al. 2010
1
1
Uba6
ubiquitin-like modifier activating enzyme 6
Mus musculus
Lee PC , et al. 2013
1
1
Ubap2l
ubiquitin-associated protein 2-like
Mus musculus
Jia X et al. 2022
1
2
Ube3a
Ubiquitin protein ligase E3A
Drosophila melanogaster
Wu Y , et al. 2008
4
64
Ube3a
ubiquitin protein ligase E3A
Mus musculus
Unknown
Jiang YH , et al. 1998
13
34
Ube3b
ubiquitin protein ligase E3B
Mus musculus
Basel-Vanagaite L , et al. 2012
1
1
Ucn3
Urocortin 3
Mus musculus
Shemesh Y , et al. 2016
1
2
Upf2
UPF2regulator of nonsense transcripts homolog
Mus musculus
Johnson JL , et al. 2019
1
3
Upf3b
UPF3 regulator of nonsense transcripts homolog B (yeast)
Mus musculus
Huang L , et al. 2017
1
3
Usp7
Ubiquitin specific peptidase 7
Mus musculus
Kon N , et al. 2009
2
3
Vcp
valosin containing protein
Mus musculus
et al.
1
4
Vldlr
very low density lipoprotein receptor
Rattus norvegicus
Unknown
Iwata K , et al. 2012
1
1
Vrk3
vaccinia related kinase 3
Mus musculus
19q13.33
Kang MS , et al. 2017
1
5
bchs
blue cheese
Drosophila melanogaster
Stessman HA , et al. 2017
2
4
Wdfy3
WD repeat and FYVE domain containing 3
Mus musculus
Unknown
Orosco LA , et al. 2014
1
4
Wwox
WW domain-containing oxidoreductase
Rattus norvegicus
Suzuki H , et al. 2007
3
1
Zbtb18
Zinc finger and BTB domain containing 18
Mus musculus
Hirai S et al. 2023
1
1
PIN Search Results
Download PIN
Gene Symbol
Gene Name
Number of Interactions
ABAT
4-aminobutyrate aminotransferase
11
ACTN4
actinin, alpha 4
8
ADCY5
Adenylate cyclase type 5
1
ADK
adenosine kinase
6
ADNP
activity-dependent neuroprotector homeobox
51
ADORA2A
adenosine A2a receptor
15
ADRB2
adrenergic, beta-2-, receptor, surface
194
ADSL
adenylosuccinate lyase
17
AFF2
AF4/FMR2 family, member 2
3
AFF4
AF4/FMR2 family, member 4
37
AGAP1
ArfGAP with GTPase domain, ankyrin repeat and PH domain 1
15
AGBL4
ATP/GTP binding protein-like 4
1
AGTR2
angiotensin II receptor, type 2
2
AHI1
Abelson helper integration site 1
6
ALDH5A1
aldehyde dehydrogenase 5 family, member A1
8
ANK2
ankyrin 2, neuronal
36
ANK3
ankyrin 3, node of Ranvier (ankyrin G)
57
ANKRD11
ankyrin repeat domain 11
30
ANXA1
annexin A1
55
APBA2
amyloid beta (A4) precursor protein-binding, family A, member 2
32
APC
adenomatous polyposis coli
391
APH1A
anterior pharynx defective 1 homolog A (C. elegans)
2
APP
amyloid beta (A4) precursor protein
79
AR
androgen receptor
19
ARHGAP32
Rho GTPase activating protein 32
9
ARHGEF9
Cdc42 guanine nucleotide exchange factor (GEF) 9
3
ARID1B
AT rich interactive domain 1B (SWI1-like)
27
ARNT2
aryl-hydrocarbon receptor nuclear translocator 2
297
ARX
aristaless related homeobox
1010
ASH1L
ash1 (absent, small, or homeotic)-like (Drosophila)
21
ASTN2
astrotactin 2
4
ASXL3
additional sex combs like 3 (Drosophila)
2
ATP10A
ATPase, class V, type 10A
1
ATP1A3
ATPase Na+/K+ transporting subunit alpha 3
9
ATP2B2
ATPase, Ca++ transporting, plasma membrane 2
121
ATRNL1
attractin-like 1
1
ATRX
alpha thalassemia/mental retardation syndrome X-linked
7
ATXN7
ataxin 7
3
AUTS2
Autism susceptibility gene 2 protein
143
AVPR1A
arginine vasopressin receptor 1A
3
BAIAP2
BAI1-associated protein 2
22
BCKDK
branched chain ketoacid dehydrogenase kinase
23
BCL11A
B-cell CLL/lymphoma 11A (zinc finger protein)
42
BDNF
brain-derived neurotrophic factor
9
BIN1
bridging integrator 1
10
BIRC6
baculoviral IAP repeat containing 6
22
BRAF
Serine/threonine-protein kinase B-raf
21
BRCA2
breast cancer 2, early onset
84
BZRAP1
benzodiazapine receptor (peripheral) associated protein 1
22
C15orf43
Uncharacterized protein C15orf43
1
C4B
complement component 4B (Chido blood group)
10
CA6
Carbonic anhydrase 6
7
CACNA1C
calcium channel, voltage-dependent, L type, alpha 1C subunit
48
CACNA1E
calcium channel, voltage-dependent, R type, alpha 1E subunit
2
CACNA1F
Voltage-dependent L-type calcium channel subunit alpha-1F
6
CACNA1G
calcium channel, voltage-dependent, T type, alpha 1G subunit
9
CACNA1H
calcium channel, voltage-dependent, T type, alpha 1H subunit
14
CACNB2
calcium channel, voltage-dependent, beta 2 subunit
7
CADM1
cell adhesion molecule 1
22
CADPS2
Ca++-dependent secretion activator 2
18
CAPRIN1
cell cycle associated protein 1
4
CASC4
cancer susceptibility candidate 4
9
CC2D1A
coiled-coil and C2 domain containing 1A
13
CD44
CD44 molecule (Indian blood group)
53
CDC42BPB
CDC42 binding protein kinase beta (DMPK-like)
8
CDH10
cadherin 10, type 2 (T2-cadherin)
9
CDH11
Cadherin-11
2
CDH22
PB-cadherin
1
CDH8
cadherin 8, type 2
20
CDH9
Cadherin-9
8
CDKL5
cyclin-dependent kinase-like 5
23
CHD2
chromodomain helicase DNA binding protein 2
47
CHD7
chromodomain helicase DNA binding protein 7
110
CHD8
chromodomain helicase DNA binding protein 8
4376
CHORDC1
cysteine and histidine-rich domain (CHORD) containing 1
17
CHRNA7
cholinergic receptor, nicotinic, alpha 7 (neuronal)
17
CLSTN3
calsyntenin 3
6
CLTCL1
clathrin, heavy chain-like 1
39
CMIP
c-Maf inducing protein
4
CNR1
cannabinoid receptor 1 (brain)
1
CNTN4
contactin 4
6
CNTN6
contactin 6
3
CNTNAP2
contactin associated protein-like 2
44
CNTNAP4
Contactin-associated protein-like 4
6
CNTNAP5
contactin associated protein-like 5
1
CREBBP
CREB binding protein
18
CSNK1D
casein kinase 1, delta
55
CTCF
CCCTC-binding factor (zinc finger protein)
54
CTNNA3
catenin (cadherin-associated protein), alpha 3
33
CTNNB1
catenin (cadherin-associated protein), beta 1, 88kDa
235
CTNND2
catenin (cadherin-associated protein), delta 2
99
CTTNBP2
cortactin binding protein 2
27
CUL3
cullin 3
1281
CYP11B1
cytochrome P450, family 11, subfamily B, polypeptide 1
4
DAPK1
death-associated protein kinase 1
4
DCUN1D1
DCN1, defective in cullin neddylation 1, domain containing 1 (S. cerevisiae)
12
DCX
doublecortin
19
DDX53
DEAD (Asp-Glu-Ala-Asp) box polypeptide 53
5
DEAF1
DEAF1 transcription factor
25
DENR
density-regulated protein
32
DGCR8
DiGeorge syndrome critical region gene 8
7
DGKZ
diacylglycerol kinase, zeta
4
DHCR7
7-dehydrocholesterol reductase
10
DIP2A
DIP2 disco-interacting protein 2 homolog A (Drosophila)
31
DISC1
disrupted in schizophrenia 1
178
DLG1
discs, large homolog 1 (Drosophila)
18
DLG4
DLG4discs, large homolog 4 (Drosophila)
127
Dlgap2
Disks large-associated protein 2
11
DLX1
distal-less homeobox 1
2
DLX2
distal-less homeobox 2
20
DLX6
distal-less homeobox 6
2
DMD
dystrophin
70
DMPK
dystrophia myotonica-protein kinase
18
DMXL2
Dmx-like 2
29
DNM1L
dynamin 1-like
16
DOCK4
dedicator of cytokinesis 4
9
DPP10
dipeptidyl-peptidase 10 (non-functional)
3
DPP6
dipeptidyl-peptidase 6
6
DPYD
dihydropyrimidine dehydrogenase
7
DRD1
dopamine receptor D1
3
DRD2
dopamine receptor D2
45
DRD3
dopamine receptor D3
8
DSCAM
Down syndrome cell adhesion molecule
8
DUSP15
dual specificity phosphatase 15
2
DVL1
dishevelled, dsh homolog 1 (Drosophila)
4
DVL3
dishevelled, dsh homolog 3 (Drosophila)
27
DYDC1
DPY30 domain-containing protein 1
13
DYRK1A
dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
55
EHMT1
euchromatic histone-lysine N-methyltransferase 1
5013
EIF4E
eukaryotic translation initiation factor 4E
44
EIF4EBP2
eukaryotic translation initiation factor 4E binding protein 2
9
ELAVL2
ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)
167
EML1
echinoderm microtubule associated protein like 1
11
EN2
engrailed homeobox 2
10
EP300
E1A binding protein p300
16
EP400
E1A binding protein p400
56
EPC2
enhancer of polycomb homolog 2 (Drosophila)
25
EPHB2
EPH receptor B2
6
ERBB4
v-erb-a erythroblastic leukemia viral oncogene homolog 4 (avian)
2
ERG
v-ets erythroblastosis virus E26 oncogene homolog (avian)
1
ERMN
Ermin
3
ESR1
estrogen receptor 1
16
ESR2
estrogen receptor 2 (ER beta)
11
EXOC5
exocyst complex component 5
42
EXOC6
exocyst complex component 6
22
EXT1
exostosin 1
27
FABP5
fatty acid binding protein 5 (psoriasis-associated)
3
Fabp7
Fatty acid-binding protein, brain
3
FAN1
FANCD2/FANCI-associated nuclease 1
12
FAT1
FAT tumor suppressor homolog 1 (Drosophila)
79
FBXO33
F-box protein 33
8
Fbxo40
F-box only protein 40
6
Fezf2
Fez family zinc finger protein 2
4
FHIT
fragile histidine triad gene
14
FMR1
fragile X mental retardation 1
9286
FOXG1
forkhead box G1
34
FOXP1
forkhead box P1
153
FOXP2
forkhead box P2
307
FRK
fyn-related kinase
10
GABRA1
gamma-aminobutyric acid (GABA) A receptor, alpha 1
4
GABRA4
Gamma-aminobutyric acid receptor subunit alpha-4
8
GABRB1
gamma-aminobutyric acid (GABA) A receptor, beta 1
6
GABRB3
gamma-aminobutyric acid (GABA) A receptor, beta 3
29
Gabrq
gamma-aminobutyric acid (GABA) A receptor, theta
1
GADD45B
Growth arrest and DNA damage-inducible protein GADD45 beta
17
GALNT13
UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)
3
GAP43
growth associated protein 43
33
GIGYF1
GRB10 interacting GYF protein 1
12
GLO1
glyoxalase I
11
GNAS
Neuroendocrine secretory protein 55
20
GNB1L
guanine nucleotide binding protein (G protein), beta polypeptide 1-like
14
GPHN
gephyrin
45
GPR37
G protein-coupled receptor 37 (endothelin receptor type B-like)
34
GPX1
glutathione peroxidase 1
3
GREM1
gremlin 1, DAN family BMP antagonist
2
GRID2
glutamate receptor, ionotropic, delta 2
17
GRIK2
glutamate receptor, ionotropic, kainate 2
29
GRIN1
glutamate receptor, ionotropic, N-methyl D-aspartate 1
65
GRIN2A
Glutamate receptor ionotropic, NMDA 2A
9
GRIN2B
glutamate receptor, ionotropic, N-methyl D-aspartate 2B
77
GRIP1
glutamate receptor interacting protein 1
82
GRM5
glutamate receptor, metabotropic 5
38
GRPR
gastrin-releasing peptide receptor
56
GSK3B
glycogen synthase kinase 3 beta
26
GSTM1
Glutathione S-transferase Mu 1
6
GTF2I
general transcription factor IIi
102
HCFC1
host cell factor C1 (VP16-accessory protein)
17
HCN1
hyperpolarization activated cyclic nucleotide-gated potassium channel 1
11
HDAC4
histone deacetylase 4
52
HDAC6
histone deacetylase 6
10
HEPACAM
hepatic and glial cell adhesion molecule
8
HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
73
HLA-A
major histocompatibility complex, class I, A
18
HMGN1
high mobility group nucleosome binding domain 1
35
HOMER1
homer homolog 1 (Drosophila)
61
HOXA1
homeobox A1
338
HOXB1
homeobox B1
1
HRAS
v-Ha-ras Harvey rat sarcoma viral oncogene homolog
43
HSD11B1
hydroxysteroid (11-beta) dehydrogenase 1
13
HTR1B
5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled
5
HTR2A
5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
3
HTR3C
5-hydroxytryptamine receptor 3C
42
HUWE1
HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
5
ICA1
islet cell autoantigen 1, 69kDa
14
IL1RAPL1
interleukin 1 receptor accessory protein-like 1
7
IMMP2L
Mitochondrial inner membrane protease subunit 2
3
INPP1
Inositol polyphosphate 1-phosphatase
12
ITGB3
integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
51
Jakmip1
Janus kinase and microtubule-interacting protein 1
43
JMJD1C
jumonji domain containing 1C
13
KAT2B
K(lysine) acetyltransferase 2B
28
KATNAL2
katanin p60 subunit A-like 2
3
KCND2
potassium voltage-gated channel, Shal-related subfamily, member 2
23
KCNJ10
potassium inwardly-rectifying channel, subfamily J, member 10
21
KCNMA1
potassium large conductance calcium-activated channel, subfamily M, alpha member 1
26
KCNQ2
potassium voltage-gated channel, KQT-like subfamily, member 2
10
KCNQ3
potassium voltage-gated channel, KQT-like subfamily, member 3
5
KCNT1
potassium channel, subfamily T, member 1
3
KCTD13
potassium channel tetramerisation domain containing 13
40
KDM5B
lysine (K)-specific demethylase 5B
97
KDM5C
lysine (K)-specific demethylase 5C
17
KDM6B
Lysine-specific demethylase 6B
14
KHDRBS2
KH domain containing, RNA binding, signal transduction associated 2
106
KHDRBS3
KH domain containing, RNA binding, signal transduction associated 3
15
KIAA1586
KIAA1586
5
KIF5C
kinesin family member 5C
12
KLC2
kinesin light chain 2
22
KMT2A
lysine (K)-specific methyltransferase 2A
3
KMT2C
lysine methyltransferase 2C
2
KMT2E
lysine (K)-specific methyltransferase 2E
32
KPTN
kaptin (actin binding protein)
30
LAMB1
laminin, beta 1
18
LEP
Beta-secretase 1
1
LMX1B
LIM homeobox transcription factor 1, beta
27
LRP2
low density lipoprotein receptor-related protein 2
78
LRPPRC
leucine-rich pentatricopeptide repeat containing
3
LZTS2
leucine zipper, putative tumor suppressor 2
235
MACROD2
MACRO domain containing 2
4
MAGED1
melanoma antigen family D, 1
34
MAGEL2
MAGE-like 2
7
MAOA
monoamine oxidase A
4
MAP2
Microtubule-associated protein 2
6
MAPK1
mitogen-activated protein kinase 1
7
MAPK12
mitogen-activated protein kinase 12
6
MAPK3
mitogen-activated protein kinase 3
31
MAPK8IP2
mitogen-activated protein kinase 8 interacting protein 2
6
MARK1
MAP/microtubule affinity-regulating kinase 1
10
MBD1
methyl-CpG binding domain protein 1
32
MBD3
methyl-CpG binding domain protein 3
47
MBD5
methyl-CpG binding domain protein 5
20
MC4R
melanocortin 4 receptor
1
MCPH1
microcephalin 1
12
MDGA2
MAM domain containing glycosylphosphatidylinositol anchor 2
1
MECP2
methyl CpG binding protein 2 (Rett syndrome)
522
MED13L
mediator complex subunit 13-like
21
MEF2C
myocyte enhancer factor 2C
14
MET
met proto-oncogene (hepatocyte growth factor receptor)
142
MIB1
mindbomb E3 ubiquitin protein ligase 1
364
MSN
moesin
88
MSR1
macrophage scavenger receptor 1
19
MTMR10
myotubularin related protein 10
3
MTOR
mechanistic target of rapamycin (serine/threonine kinase)
41
MTX2
metaxin 2
10
NAA15
N(alpha)-acetyltransferase 15, NatA auxiliary subunit
14
NBEA
neurobeachin
120
NCKAP1
NCK-associated protein 1
43
NCKAP5L
NCK-associated protein 5-like
4
NDNL2
necdin-like 2
8
NDUFA5
NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 5, 13kDa
17
NELL1
NEL-like 1 (chicken)
22
NEO1
neogenin 1
10
NF1
neurofibromin 1
40
NINL
ninein-like
43
NIPBL
Nipped-B homolog (Drosophila)
18
NLGN1
neuroligin 1
21
NLGN2
neuroligin 2
18
NLGN3
neuroligin 3
95
NLGN4X
neuroligin 4, X-linked
5
NOS1
nitric oxide synthase 1 (neuronal)
12
NOS1AP
nitric oxide synthase 1 (neuronal) adaptor protein
34
NOS2
nitric oxide synthase 2, inducible
41
NPAS2
neuronal PAS domain protein 2
14
NRCAM
neuronal cell adhesion molecule
6
NRG1
Pro-neuregulin-1, membrane-bound isoform
41
NRP2
neuropilin 2
43
NRXN1
neurexin 1
76
NRXN2
Neurexin-2
12
NRXN3
neurexin 3
34
NSD1
nuclear receptor binding SET domain protein 1
383
NTNG1
netrin G1
5
NTRK1
neurotrophic tyrosine kinase, receptor, type 1
2
NTRK3
neurotrophic tyrosine kinase, receptor, type 3
34
ODF3L2
outer dense fiber of sperm tails 3-like 2
6
OGT
O-linked N-acetylglucosamine (GlcNAc) transferase
15
OPHN1
oligophrenin 1
9
OTUD7A
OTU domain containing 7A
1
OXT
oxytocin, prepropeptide
8
OXTR
oxytocin receptor
13
PAFAH1B1
platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
14
PAH
phenylalanine hydroxylase
4
PARK2
parkinson protein 2, E3 ubiquitin protein ligase (parkin)
105
PAX6
paired box 6
347
PCDH10
protocadherin 10
10
PCDH19
protocadherin 19
5
PCDH9
protocadherin 9
7
PCDHGA11
protocadherin gamma subfamily A, 11
10
PER1
period homolog 1 (Drosophila)
46
PHF2
PHD finger protein 2
5
PHF8
PHD finger protein 8
35
PIK3CG
Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform
2
PITX1
paired-like homeodomain 1
23
PLAUR
plasminogen activator, urokinase receptor
108
PLN
phospholamban
13
PLXNA4
plexin A4
7
POGZ
pogo transposable element with ZNF domain
38
POMGNT1
protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
19
PON1
paraoxonase 1
10
POU3F2
POU class 3 homeobox 2
1
PPFIA1
protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1
16
PPP1R1B
protein phosphatase 1, regulatory (inhibitor) subunit 1B
19
PREX1
Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein
1
PRICKLE1
prickle homolog 1 (Drosophila)
13
PRICKLE2
prickle homolog 2 (Drosophila)
17
PRKCB
protein kinase C, beta
37
PRKCB1
protein kinase C, beta
35
PSD3
pleckstrin and Sec7 domain containing 3
8
PTCHD1
patched domain containing 1
1
PTEN
phosphatase and tensin homolog
184
PTGS2
Prostaglandin G/H synthase 2
2
PTK7
protein tyrosine kinase 7
3
PTPMT1
protein tyrosine phosphatase, mitochondrial 1
1
PTPN11
protein tyrosine phosphatase, non-receptor type 11
27
PXDN
peroxidasin homolog (Drosophila)
21
RAB39B
RAB39B, member RAS oncogene family
29
RAI1
retinoic acid induced 1
15
RAPGEF4
Rap guanine nucleotide exchange factor (GEF) 4
17
RASSF5
Ras association (RalGDS/AF-6) domain family member 5
18
RB1CC1
RB1-inducible coiled-coil 1
40
RBFOX1
RNA binding protein, fox-1 homolog (C. elegans) 1
494
REEP3
receptor accessory protein 3
3
RELN
reelin
12
RFWD2
ring finger and WD repeat domain 2
60
RGS7
regulator of G-protein signaling 7
6
RHOV
ras homolog family member V
2
RHOXF1
Rhox homeobox family, member 1
2
RIMS1
regulating synaptic membrane exocytosis 1
14
RIMS3
regulating synaptic membrane exocytosis 3
3
ROBO1
roundabout, axon guidance receptor, homolog 1 (Drosophila)
3
ROBO2
roundabout, axon guidance receptor, homolog 2 (Drosophila)
5
RPL10
ribosomal protein L10
15
RPS6KA2
ribosomal protein S6 kinase, 90kDa, polypeptide 2
18
SATB2
SATB homeobox 2
51
SBF1
SET binding factor 1
18
SCN1A
Sodium channel protein type 1 subunit alpha
3
SCN2A
sodium channel, voltage-gated, type II, alpha subunit
17
SCN5A
sodium channel, voltage-gated, type V, alpha subunit
5
SCN8A
sodium channel, voltage gated, type VIII, alpha subunit
14
SDC2
syndecan 2
68
SEMA5A
sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
2
SERPINE1
serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
3
SETBP1
SET binding protein 1
17
SETD2
SET domain containing 2
26
SETD5
SET domain containing 5
17
SEZ6L2
Seizure 6-like protein 2
7
SH3KBP1
SH3-domain kinase binding protein 1
33
SHANK1
SH3 and multiple ankyrin repeat domains 1
20
SHANK2
SH3 and multiple ankyrin repeat domains 2
27
SHANK3
SH3 and multiple ankyrin repeat domains 3
183
SIN3A
SIN3 homolog A, transcription regulator (yeast)
25
Slc12a5
Solute carrier family 12 member 5
7
SLC16A3
solute carrier family 16, member 3 (monocarboxylic acid transporter 4)
8
SLC1A1
solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1
38
SLC25A12
solute carrier family 25 (aspartate/glutamate carrier), member 12
11
SLC38A10
solute carrier family 38, member 10
8
SLC4A10
solute carrier family 4, sodium bicarbonate transporter, member 10
3
SLC6A3
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
17
SLC6A4
solute carrier family 6 (neurotransmitter transporter, serotonin), member 4
7
SLC6A8
solute carrier family 6 (neurotransmitter transporter, creatine), member 8
9
SLC9A6
solute carrier family 9 (sodium/hydrogen exchanger), member 6
32
SLC9A9
solute carrier family 9 (sodium/hydrogen exchanger), member 9
3
Slit3
Slit homolog 3 protein
1
SLITRK5
SLIT and NTRK-like protein 5
7
SMARCA2
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
24
SMG6
smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)
10
SNAP25
Synaptosomal-associated protein 25
15
SND1
staphylococcal nuclease and tudor domain containing 1
26
SNRPN
small nuclear ribonucleoprotein polypeptide N
127
SNTG2
syntrophin, gamma 2
18
SNX14
sorting nexin 14
18
SOD1
superoxide dismutase 1, soluble
8
SOX5
SRY (sex determining region Y)-box 5
34
SPARCL1
SPARC-like 1 (hevin)
5
SRRM4
serine/arginine repetitive matrix 4
34
ST7
suppression of tumorigenicity 7
25
STK39
serine threonine kinase 39
13
STX1A
syntaxin 1A (brain)
28
SUCLG2
succinate-CoA ligase, GDP-forming, beta subunit
10
SYN1
Synapsin-1
12
SYN3
synapsin III
2
SYNE1
spectrin repeat containing, nuclear envelope 1
34
SYNGAP1
synaptic Ras GTPase activating protein 1
19
SYT17
synaptotagmin XVII
21
SYT3
synaptotagmin III
19
TAF1
TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
6
TBC1D5
TBC1 domain family, member 5
14
TBL1X
transducin (beta)-like 1X-linked
29
TBL1XR1
transducin (beta)-like 1 X-linked receptor 1
49
TBR1
T-box, brain, 1
82
TCF4
transcription factor 4
167
TCF7L2
transcription factor 7-like 2 (T-cell specific, HMG-box)
42
TDO2
tryptophan 2,3-dioxygenase
23
TERF2
telomeric repeat binding factor 2
147
TH
Tyrosine 3-monooxygenase
10
THRA
thyroid hormone receptor, alpha
10
TLK2
tousled-like kinase 2
11
TMLHE
trimethyllysine hydroxylase, epsilon
4
TNRC6B
trinucleotide repeat containing 6B
35
TOMM20
translocase of outer mitochondrial membrane 20 homolog (yeast)
4
TOP1
topoisomerase (DNA) I
159
TOP3B
topoisomerase (DNA) III beta
1986
TRIM33
tripartite motif containing 33
15
TRIO
triple functional domain (PTPRF interacting)
7
TRIP12
thyroid hormone receptor interactor 12
30
TRPC6
Short transient receptor potential channel 6
2
TSC1
tuberous sclerosis 1
118
TSC2
tuberous sclerosis 2
104
TSN
translin
4
TSPAN7
tetraspanin 7
6
TTI2
TELO2 interacting protein 2
2
UBE2H
ubiquitin-conjugating enzyme E2H
19
UBE3A
ubiquitin protein ligase E3A
166
UBE3B
thyroid hormone receptor interactor 12
4
UBE3C
ubiquitin protein ligase E3C
6
UBR5
ubiquitin protein ligase E3 component n-recognin 5
15
UPF3B
UPF3 regulator of nonsense transcripts homolog B (yeast)
40
USP7
ubiquitin specific peptidase 7 (herpes virus-associated)
41
VASH1
vasohibin 1
7
VIP
VIP peptides
8
VPS13B
vacuolar protein sorting 13 homolog B (yeast)
14
WAC
WW domain containing adaptor with coiled-coil
95
WDFY3
WD repeat and FYVE domain containing 3
37
WNK3
WNK lysine deficient protein kinase 3
4
XPC
xeroderma pigmentosum, complementation group C
56
XPO1
exportin 1 (CRM1 homolog, yeast)
6
YTHDC2
YTH domain containing 2
24
YWHAE
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide
34
ZBTB20
zinc finger and BTB domain containing 20
18
ZMYND11
zinc finger, MYND-type containing 11
39
ZNF18
zinc finger protein 18
10
ZNF827
zinc finger protein 827
1
AGMO
alkylglycerol monooxygenase
0
CDH17
Cadherin-17
0
CEP41
centrosomal protein 41kDa
0
HS3ST5
Heparan sulfate glucosamine 3-O-sulfotransferase 5
0
IL1RAPL2
X-linked interleukin-1 receptor accessory protein-like 2
0
LRFN5
Leucine-rich repeat and fibronectin type-III domain-containing protein 5
0
MYO7A
Unconventional myosin-VIIa
0
OR1C1
olfactory receptor, family 1, subfamily C, member 1
0
PECAM1
Platelet endothelial cell adhesion molecule
0
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