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Human Gene Search Results

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
 8 8 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
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
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
GEN672 ACTN4 actinin alpha 4 19q13.2 Rare single gene variant
2
 6 6 Li J , et al. 2015 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
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
GEN562 ADORA3 Adenosine A3 receptor 1p13.2 Functional
3
 8 4 Campbell NG , et al. 2013 Edit
GEN1108 ADSS2 adenylosuccinate synthase 2 1q44 Rare single gene variant
2
 2 3 De Rubeis S , et al. 2014 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
GEN1003 AGO1 argonaute 1, RISC catalytic component 1p34.3 Rare single gene variant
4
 45 15 Iossifov I et al. 2014 Edit
GEN1066 AGO3 argonaute RISC catalytic component 3 1p34.3 Rare single gene variant
3
 9 8 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
GEN824 AHDC1 AT-hook DNA binding motif containing 1 1p36.11-p35.3 Syndromic
4
 110 29 Iossifov I et al. 2014 Edit
GEN1227 AHNAK AHNAKnucleoprotein 11q12.3 Rare single gene variant
4
 55 6 Wang T et al. 2020 Edit
GEN510 ALDH1A3 aldehyde dehydrogenase 1 family member A3 15q26.3 Syndromic
2
 Yes 22 7 Fares-Taie L , et al. 2013 Edit
GEN830 ALG6 ALG6, alpha-1,3-glucosyltransferase 1p31.3 Syndromic
1 2 Morava E , et al. 2016 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
GEN406 ANK3 ankyrin 3 10q21.2 Genetic Association
3
 50 34 Bi C , et al. 2012 Edit
GEN011 ANKRD11 ankyrin repeat domain 11 16q24.3 Rare Single Gene variant
5
 262 75 Marshall CR , et al. 2008 Edit
GEN673 ANKS1B ankyrin repeat and sterile alpha motif domain containing 1B 12q23.1 Rare single gene variant
2
 25 6 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
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
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
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
GEN1382 ARF3 ADP ribosylation factor 3 12q13.12 Rare single gene variant
2
 11 5 Feliciano P et al. 2019 Edit
GEN317 ARHGAP11B Rho GTPase activating protein 11B 15q13.2 Rare Single Gene variant
3 3 Leblond CS , et al. 2012 Edit
GEN816 ARHGAP32 Rho GTPase activating protein 32 11q24.3 Multigenic CNV
3
 29 10 Akshoomoff N , et al. 2014 Edit
GEN713 ARHGAP33 Rho GTPase activating protein 33 19q13.12 Functional
2
 7 4 Schuster S , et al. 2015 Edit
GEN1002 ARHGAP5 Rho GTPase activating protein 5 14q12 Rare single gene variant
3
 10 6 Iossifov I et al. 2014 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
GEN1089 ARID2 AT-rich interaction domain 2 12q12 Rare single gene variant
4
 58 17 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
GEN642 ASH1L Ash1 (absent, small, or homeotic)-like (Drosophila) 1q22 Rare single gene variant
5
 147 34 Willsey AJ , et al. 2013 Edit
GEN939 ASPM abnormal spindle microtubule assembly 1q31.3 Syndromic
4
 70 13 Iossifov I et al. 2014 Edit
GEN577 ASXL3 Additional sex combs like 3 (Drosophila) 18q12.1 Syndromic
5
 109 50 Dinwiddie DL , et al. 2013 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
 64 25 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
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
3
 7 7 Stark Z , et al. 2010 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
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
GEN515 BBS4 Bardet-Biedl syndrome 4 15q24.1 Rare single gene variant
2
 8 6 Girirajan S , et al. 2013 Edit
GEN423 BCKDK Branched chain ketoacid dehydrogenase kinase 16p11.2 Rare single gene variant
2
 Yes 21 8 Novarino G , et al. 2012 Edit
GEN1423 BCL11B BCL11 transcription factor B 14q32.2 Syndromic/Functional
3
 42 7 et al. Edit
GEN025 BCL2 B-cell CLL/lymphoma 2 18q21.33 Functional
0 10 Nguyen A , et al. 2010 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
GEN1310 BMAL1 basic helix-loop-helix ARNT like 1 11p15.3 Rare single gene variant
3
 11 9 Yang Z , et al. 2015 Edit
GEN337 BRCA2 breast cancer 2, early onset 13q13.1 Rare Single Gene variant
2
 13 8 Neale BM , et al. 2012 Edit
GEN970 BRD4 bromodomain containing 4 19p13.12 Rare single gene variant
3
 31 11 Iossifov I , et al. 2012 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
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
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
 127 43 Damaj L , et al. 2015 Edit
GEN031 CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 12p13.33 Syndromic
4
 86 63 Splawski I , et al. 2004 Edit
GEN813 CACNA1E calcium voltage-gated channel subunit alpha1 E 1q25.3 Rare single gene variant
4
 71 23 O'Roak BJ , et al. 2012 Edit
GEN034 CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 17q21.33 Genetic Association
3
 50 27 Strom SP , et al. 2009 Edit
GEN035 CACNA1H calcium channel, voltage-dependent, alpha 1H subunit 16p13.3 Rare Single Gene variant
4
 65 34 Splawski I , et al. 2006 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
GEN036 CADM1 cell adhesion molecule 1 11q23.3 Rare Single Gene variant
2
 6 10 Zhiling Y , et al. 2008 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
 46 14 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
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 28 18 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
GEN1035 CCNK cyclin K 14q32.2 Syndromic
2
 9 6 Fan Y , et al. 2018 Edit
GEN969 CD276 CD276molecule 15q24.1 Rare single gene variant
2
 8 4 Li J , et al. 2017 Edit
GEN041 CD44 CD44 molecule (Indian blood group) 11p13 Functional
2
 2 5 Hu VW , et al. 2006 Edit
GEN657 CDC42BPB CDC42 binding protein kinase beta (DMPK-like) 14q32.32 Rare single gene variant
4
 38 12 O'Roak BJ , et al. 2012 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
GEN044 CDH8 cadherin 8, type 2 16q21 Rare Single Gene variant
2
 11 12 Pagnamenta AT , et al. 2010 Edit
GEN1081 CDK8 cyclin dependent kinase 8 13q12.13 Syndromic
3
 18 5 Calpena E , et al. 2019 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
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
GEN583 CEP290 Centrosomal protein 290kDa 12q21.32 Syndromic
3
 24 14 Coppieters F , et al. 2010 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
 48 17 Hempel M , et al. 2015 Edit
GEN548 CHD2 Chromodomain helicase DNA binding protein 2 15q26.1 Syndromic
5
 206 80 Carvill GL , et al. 2013 Edit
GEN1048 CHD3 chromodomain helicase DNA binding protein 3 17p13.1 Rare single gene variant
4
 112 17 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
GEN334 CHD8 chromodomain helicase DNA binding protein 8 14q11.2 Multigenic CNV
5
 315 104 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
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
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
 26 14 Iossifov I et al. 2014 Edit
GEN183 CIMAP1D CIMAP1 family member D 19p13.3 Rare Single Gene variant
2
 13 2 Bucan M , et al. 2009 Edit
GEN579 CLSTN3 Calsyntenin 3 12p13.31 Functional
2
 6 7 Pettem KL , et al. 2013 Edit
GEN382 CMIP c-Maf inducing protein 16q23.2-q23.3 Genetic Association
0
 20 6 Van der Aa N , et al. 2012 Edit
GEN1191 CNOT1 CCR4-NOT transcription complex subunit 1 16q21 Rare single gene variant
3
 47 9 Iossifov I et al. 2014 Edit
GEN866 CNOT3 CCR4-NOT transcription complex subunit 3 19q13.42 Rare single gene variant
4
 44 20 et al. 2017 Edit
GEN537 CNR2 Cannabinoid receptor 2 (macrophage) 1p36.11 Genetic association
0
 7 7 Siniscalco D , et al. 2013 Edit
GEN385 CNTN5 Contactin 5 11q22.1 Rare single gene variant
3
 36 11 van Daalen E , et al. 2011 Edit
GEN616 CNTNAP4 Contactin associated protein-like 4 16q23.1 Rare Single Gene variant
3
 32 15 Karayannis T , et al. 2014 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
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
 10 5 Li J , et al. 2017 Edit
GEN285 CREBBP CREB binding protein 16p13.3 Syndromic
4
 120 41 Barnby G , et al. 2005 Edit
GEN1130 CSDE1 cold shock domain containing E1 1p13.2 Rare single gene variant
4
 31 7 Iossifov I et al. 2014 Edit
GEN330 CSNK1D casein kinase 1, delta 17q25.3 Rare Single Gene variant
2
 5 4 Pinto D , et al. 2010 Edit
GEN1221 CSNK1G1 casein kinase 1 gamma 1 15q22.31 Rare single gene variant
3
 6 3 Gold NB et al. 2020 Edit
GEN549 CTCF CCCTC-binding factor 16q22.1 Functional
4
 84 25 Ishihara K , et al. 2006 Edit
GEN053 CTNNA3 catenin (cadherin-associated protein), alpha 3 10q21.3 Genetic Association
3
 Yes 62 19 Wang K , et al. 2009 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
GEN1011 CUX2 cut like homeobox 2 12q24.11-q24.12 Rare single gene variant
3
 30 15 De Rubeis S , et al. 2014 Edit
GEN320 CYFIP1 cytoplasmic FMR1 interacting protein 1 15q11.2 Multigenic CNV
3
 15 23 Leblond CS , et al. 2012 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
GEN1193 DCC DCCnetrin 1 receptor 18q21.2 Genetic association
2
 7 6 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
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
GEN610 DEAF1 DEAF1 transcription factor 11p15.5 Rare single gene variant
5
 90 32 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
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
 37 20 Tierney E , et al. 2001 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 14 Iossifov I , et al. 2012 Edit
GEN883 DIP2C disco interacting protein 2 homolog C 10p15.3 Rare single gene variant
4
 29 7 Iossifov I et al. 2014 Edit
GEN065 DISC1 disrupted in schizophrenia 1 1q42.2 Syndromic
2
 36 38 Kilpinen H , et al. 2007 Edit
GEN852 DIXDC1 DIX domain containing 1 11q23.1 Functional
4
 48 6 Martin PM , et al. 2016 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
 84 25 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
GEN550 DLGAP3 DLG associated protein 3 1p34.3 Functional
2
 15 12 Welch JM , et al. 2007 Edit
GEN1063 DLX3 distal-less homeobox 3 17q21.33 Rare single gene variant
2
 7 4 Iossifov I et al. 2014 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
 9 9 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
GEN427 DNM1L Dynamin 1-like 12p11.21 Functional
2
 10 9 Anitha A , et al. 2012 Edit
GEN748 DOCK1 Dedicator of cytokinesis 1 10q26.2 Rare single gene variant
2
 3 3 Griswold AJ , et al. 2015 Edit
GEN1111 DPP3 dipeptidyl peptidase 3 11q13.2 Rare single gene variant
2
 6 4 De Rubeis S , et al. 2014 Edit
GEN074 DPYD dihydropyrimidine dehydrogenase 1p21.3 Rare Single Gene variant
2
 30 15 Marshall CR , et al. 2008 Edit
GEN358 DRD2 Dopamine receptor D2 11q23.2 Rare single gene variant
2
 11 7 Hettinger JA , et al. 2012 Edit
GEN645 DSCAM Down syndrome cell adhesion molecule 21q22.2 Rare single gene variant
4
 102 18 Iossifov I et al. 2014 Edit
GEN796 DVL1 Dishevelled segment polarity protein 1 1p36.33 Functional
0 3 Lijam N , et al. 1997 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
 73 36 De Rubeis S , et al. 2014 Edit
GEN367 DYRK1A Dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A 21q22.13 Syndromic
5
 278 80 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
GEN076 EGR2 early growth response 2 (Krox-20 homolog, Drosophila) 10q21.3 Functional
0
 1 5 Hu VW , et al. 2006 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
GEN479 EIF4EBP2 Eukaryotic translation initiation factor 4E binding protein 2 10q22.1 Functional
0 1 Gkogkas CG , et al. 2012 Edit
GEN1425 EIF5A eukaryotic translation initiation factor 5A 17p13.1 Rare single gene variant
2
 10 4 et al. 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
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
GEN353 EP400 E1A binding protein p400 12q24.33 Rare single gene variant
4
 Yes 71 10 Chahrour MH , et al. 2012 Edit
GEN410 EPHB2 EPH receptor B2 1p36.12 Rare single gene variant
3
 61 9 Sanders SJ , et al. 2012 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
GEN404 ERG ERG, ETS transcription factor 21q22.2 Genetic association
1 1 Anney R , et al. 2012 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
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
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
GEN1099 FAM98C family with sequence similarity 98 member C 19q13.2 Rare single gene variant
2
 5 4 De Rubeis S , et al. 2014 Edit
GEN589 FAN1 FANCD2/FANCI-associated nuclease 1 15q13.3 Rare single gene variant
2
 7 5 Ionita-Laza I , et al. 2013 Edit
GEN754 FBN1 Fibrillin 1 15q21.1 Rare single gene variant
3
 25 15 Iossifov I , et al. 2012 Edit
GEN1177 FBRSL1 fibrosin like 1 12q24.33 Syndromic
2
 5 3 Ufartes R et al. 2020 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
GEN946 FCRL6 Fc receptor like 6 1q23.2 Rare single gene variant
2
 29 4 Sanders SJ , et al. 2012 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
GEN1030 FGFR2 fibroblast growth factor receptor 2 10q26.13 Functional
3
 9 8 Szczurkowska J , et al. 2018 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
GEN413 FOLH1 folate hydrolase 1 11p11.12 Functional
0 2 Han L , et al. 2009 Edit
GEN094 FOXG1 Forkhead box G1 14q12 Syndromic
4
 88 57 Kortm F , et al. 2011 Edit
GEN1434 FRMD5 FERM domain containing 5 15q15.3 Rare single gene variant
2
 12 5 et al. Edit
GEN1272 GAB2 GRB2 associated binding protein 2 11q14.1 Rare single gene variant
2
 5 2 Wilfert AB et al. 2021 Edit
GEN827 GABRA5 gamma-aminobutyric acid type A receptor alpha5 subunit 15q12 Genetic association
2
 6 11 Fatemi SH , et al. 2010 Edit
GEN101 GABRB3 gamma-aminobutyric acid (GABA) A receptor, beta 3 15q12 Genetic Association
4
 Yes 148 52 Cook EH Jr , et al. 1998 Edit
GEN1032 GABRG3 gamma-aminobutyric acid type A receptor gamma3 subunit 15q12 Genetic association
3
 21 13 Menold MM , et al. 2002 Edit
GEN742 GADD45B Growth arrest and DNA-damage-inducible, beta 19p13.3 Functional
2
 2 5 Garbett K , et al. 2008 Edit
GEN1174 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2 1q42.13 Syndromic
2
 10 6 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
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
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
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
GEN038 GOLM2 golgi membrane protein 2 15q15.3 Rare Single Gene variant
2
 7 4 Pinto D , et al. 2010 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
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
GEN415 GRID1 Glutamate receptor, ionotropic, delta 1 10q23.1-q23.2 Genetic association
2
 7 7 Glessner JT , et al. 2009 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
GEN110 GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A 16p13.2 Genetic Association
4
 215 63 Barnby G , et al. 2005 Edit
GEN111 GRIN2B glutamate receptor, inotropic, N-methyl D-apartate 2B 12p13.1 Genetic Association
5
 242 85 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
GEN355 GRM5 glutamate metabotropic receptor 5 11q14.2-q14.3 Rare single gene variant
3
 25 11 Iossifov I , et al. 2012 Edit
GEN115 GSTM1 glutathione S-transferase M1 1p13.3 Genetic Association
1 3 Buyske S , et al. 2006 Edit
GEN400 GUCY1A2 guanylate cyclase 1 soluble subunit alpha 2 11q22.3 Genetic association
2
 3 3 Anney R , et al. 2012 Edit
GEN881 HDC histidine decarboxylase 15q21.2 Functional
2
 3 9 Castellan Baldan L , et al. 2014 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
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
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
GEN303 HMGN1 high mobility group nucleosome binding domain 1 21q22.2 Genetic Association
11 1 Abuhatzira L , et al. 2011 Edit
GEN1246 HNRNPF heterogeneous nuclear ribonucleoprotein F 10q11.21 Rare single gene variant
2
 4 4 Iossifov I et al. 2014 Edit
GEN1248 HNRNPR heterogeneous nuclear ribonucleoprotein R 1p36.12 Rare single gene variant
3
 14 7 Duijkers FA et al. 2019 Edit
GEN926 HNRNPU heterogeneous nuclear ribonucleoprotein U 1q44 Rare single gene variant
4
 131 40 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
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
GEN126 HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1 1q32.2 Syndromic
0
 2 9 Chakrabarti B , et al. 2009 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
GEN131 HTR7 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) 10q23.31 Genetic Association
2
 6 5 Lassig JP , et al. 1999 Edit
GEN514 HYDIN HYDIN, axonemal central pair apparatus protein 16q22.2 Multigenic CNV
2
 12 5 Girirajan S , et al. 2013 Edit
GEN840 IFNG interferon gamma 12q15 Functional
0 13 Singh VK 1996 Edit
GEN1182 IGF1 insulin like growth factor 1 12q23.2 Functional
3
 20 8 Tran KT et al. 2020 Edit
GEN685 IL16 interleukin 16 15q25.1 Rare single gene variant
2
 6 3 Li J , et al. 2015 Edit
GEN759 ILF2 Interleukin enhancer binding factor 2 1q21.3 Rare single gene variant
3
 6 6 Sanders SJ , et al. 2015 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
GEN763 IRF2BPL Interferon regulatory factor 2 binding protein-like 14q24.3 Rare single gene variant
4
 37 16 Sanders SJ , et al. 2015 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
GEN1119 ITSN1 intersectin 1 21q22.11 Rare single gene variant
4
 45 10 De Rubeis S , et al. 2014 Edit
GEN139 JMJD1C jumonji domain containing 1C 10q21.3 Rare single gene variant
3
 22 10 Castermans D , et al. 2007 Edit
GEN1136 KANSL1 KAT8 regulatory NSL complex subunit 1 17q21.31 Rare single gene variant
3
 32 13 Koolen DA , et al. 2015 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
GEN1074 KCNC1 potassium voltage-gated channel subfamily C member 1 11p15.1 Rare single gene variant
2
 8 10 Iossifov I et al. 2014 Edit
GEN1314 KCNC2 potassium voltage-gated channel subfamily C member 2 12q21.1 Rare single gene variant
3
 42 13 Satterstrom FK et al. 2020 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
 17 13 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
GEN363 KCTD13 Potassium channel tetramerisation domain containing 13 16p11.2 Rare single gene variant
0
 4 9 Golzio C , et al. 2012 Edit
GEN1326 KDM2A lysine demethylase 2A 11q13.2 Rare single gene variant
4
 25 9 Iossifov I et al. 2014 Edit
GEN1364 KDM2B lysine demethylase 2B 12q24.31 Syndromic
3
 28 10 Iossifov I et al. 2014 Edit
GEN819 KDM4B lysine demethylase 4B 19p13.3 Rare single gene variant
3
 25 6 De Rubeis S , et al. 2014 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
GEN648 KDM6B Lysine (K)-specific demethylase 6B 17p13.1 Rare single gene variant
5
 132 22 Iossifov I , et al. 2012 Edit
GEN1044 KIF14 kinesin family member 14 1q32.1 Rare single gene variant
2
 10 7 Krumm N , et al. 2015 Edit
GEN1018 KIF21B kinesin family member 21B 1q32.1 Functional
2
 6 7 Gromova KV , et al. 2018 Edit
GEN789 KIRREL3 Kin of IRRE like 3 (Drosophila) 11q24.2 Rare single gene variant
3
 33 19 Talkowski ME , et al. 2012 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
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
 215 50 De Rubeis S , et al. 2014 Edit
GEN336 KMT5B lysine methyltransferase 5B 11q13.2 Rare Single Gene variant
5
 98 27 Sanders SJ , et al. 2012 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
 19 12 Anney R , et al. 2012 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
 6 4 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
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
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
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
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
GEN578 MAGEL2 MAGE-like 2 15q11.2 Syndromic
4
 56 25 Schaaf CP , 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
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
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
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
GEN1348 MARK2 microtubule affinity regulating kinase 2 11q13.1 Rare single gene variant
4
 18 5 Zhou X et al. 2022 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
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 49 20 Johansen A , et al. 2016 Edit
GEN551 MC4R Melanocortin 4 receptor 18q21.32 Functional
0 4 Xu P , et al. 2013 Edit
GEN156 MDGA2 MAM domain containing glycosylphosphatidylinositol anchor 2 14q21.3 Genetic Association
2
 21 9 Bucan M , et al. 2009 Edit
GEN884 MED13 mediator complex subunit 13 17q23.2 Rare single gene variant
4
 39 14 Iossifov I et al. 2014 Edit
GEN649 MED13L Mediator complex subunit 13-like 12q24.21 Rare single gene variant
4
 126 54 Iossifov I , et al. 2012 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
 40 13 Louw JJ , et al. 2015 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
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
 7 7 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
GEN162 MTF1 metal-regulatory transcription factor 1 1p34.3 Genetic Association
2
 4 6 Serajee FJ , et al. 2004 Edit
GEN163 MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 1p36.22 Genetic Association
2
 20 24 James SJ , et al. 2006 Edit
GEN785 MTOR mechanistic target of rapamycin kinase 1p36.22 Rare single gene variant
4
 69 34 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
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
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
GEN868 NACC1 nucleus accumbens associated 1 19p13.13 Rare single gene variant
3
 16 11 Schoch K , et al. 2017 Edit
GEN1439 NASP nuclear autoantigenic sperm protein 1p34.1 Rare single gene variant
2
 5 3 et al. 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 26 Castermans D , et al. 2003 Edit
GEN350 NCKAP5L NCK-associated protein 5-like 12q13.12 Rare single gene variant
2
 Yes 12 4 Chahrour MH , et al. 2012 Edit
GEN855 NCOR1 nuclear receptor corepressor 1 17p12-p11.2 Rare single gene variant
4
 60 12 Iossifov I , 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 3 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
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
GEN290 NFIA nuclear factor I/A 1p31.3 Rare Single Gene variant
3
 30 18 Mikhail FM , et al. 2011 Edit
GEN805 NFIX nuclear factor I/X (CCAAT-binding transcription factor) 19p13.13 Syndromic
2
 72 20 Malan V , et al. 2010 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
GEN627 NLGN2 Neuroligin 2 17p13.1 Rare single gene variant
3
 7 13 Whr M , et al. 2012 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
GEN1431 NPTN neuroplastin 15q24.1 Rare single gene variant
2
 3 3 et al. 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
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
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
GEN181 NTRK1 neurotrophic tyrosine kinase, receptor, type 1 1q23.1 Rare Single Gene variant
2
 15 9 Chakrabarti B , et al. 2009 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
GEN812 NUP133 nucleoporin 133kDa 1q42.13 Rare single gene variant
2
 4 5 Iossifov I , et al. 2012 Edit
GEN1207 NXF1 nuclear RNA export factor 1 11q12.3 Rare single gene variant
0
 2 2 Luo Y et al. 2020 Edit
GEN907 ODAD4 outer dynein arm docking complex subunit 4 17q21.2 Genetic association
9 1 Vojinovic D , et al. 2017 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
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
GEN803 PACS1 phosphofurin acidic cluster sorting protein 1 11q13.1-q13.2 Syndromic
4
 54 20 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 22 12 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
GEN580 PATJ PATJ, crumbs cell polarity complex component 1p31.3 Rare single gene variant
2
 10 6 Kenny EM , et al. 2013 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
 15 8 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
 22 13 Al-Owain M , et al. 2013 Edit
GEN399 PCDH15 protocadherin related 15 10q21.1 Genetic association
3
 45 11 Anney R , et al. 2012 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
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
GEN1308 PDZD8 PDZ domain containing 8 10q25.3-q26.11 Functional
2
 5 3 Al-Amri AH et al. 2022 Edit
GEN193 PER1 period homolog 1 (Drosophila) 17p13.1 Genetic Association
2
 12 9 Nicholas B , et al. 2007 Edit
GEN859 PGLYRP2 peptidoglycan recognition protein 2 19p13.12 Rare single gene variant
2
 5 6 Arentsen T , et al. 2016 Edit
GEN910 PHB1 prohibitin 1 17q21.33 Genetic association
1 1 Cantor RM , et al. 2017 Edit
GEN1151 PHF12 PHD finger protein 12 17q11.2 Rare single gene variant
4
 25 5 Satterstrom FK et al. 2020 Edit
GEN1070 PHF21A PHD finger protein 21A 11p11.2 Syndromic
4
 29 17 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 11 4 Zaki MS et al. 2021 Edit
GEN552 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 19p13.11 Syndromic
2
 12 10 Rivire JB , et al. 2012 Edit
GEN371 PLAUR Plasminogen activator, urokinase receptor 19q13.31 Genetic association
2
 4 3 Campbell DB , et al. 2009 Edit
GEN972 PLPPR4 phospholipid phosphatase related 4 1p21.3-p21.2 Functional
2
 7 7 Vogt J , et al. 2015 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
GEN512 PPFIA1 PTPRF interacting protein alpha 1 11q13.3 Rare single gene variant
2
 6 5 Schluth-Bolard C , et al. 2013 Edit
GEN1432 PPFIA3 PTPRF interacting protein alpha 3 19q13.33 Rare single gene variant
3
 26 8 et al. 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
GEN1165 PPP1R9B protein phosphatase 1 regulatory subunit 9B 17q21.33 Rare single gene variant
2
 8 4 Satterstrom FK et al. 2020 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
GEN1161 PPP5C protein phosphatase 5 catalytic subunit 19q13.32 Rare single gene variant
2
 4 3 Iossifov I et al. 2014 Edit
GEN588 PRICKLE1 Prickle homolog 1 (Drosophila) 12q12 Syndromic
2
 9 7 Paemka L , et al. 2013 Edit
GEN1072 PRKCA protein kinase C alpha 17q24.2 Rare single gene variant
2
 7 7 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
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
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
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
GEN848 PTBP2 polypyrimidine tract binding protein 2 1p21.3 Rare single gene variant
2
 Yes 6 8 Doan RN , et al. 2016 Edit
GEN204 PTEN phosphatase and tensin homolog (mutated in multiple advanced cancers 1) 10q23.31 Syndromic
5
 177 100 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
GEN277 PTPN11 protein tyrosine phosphatase, non-receptor type 11 12q24.13 Syndromic
3
 44 27 Tartaglia M , et al. 2001 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
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
GEN208 RAI1 retinoic acid induced 1 17p11.2 Syndromic
4
 32 36 Nakamine A , et al. 2007 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
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 44 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
GEN519 RBM8A RNA binding motif protein 8A 1q21.1 Multigenic CNV
2
 2 6 Nguyen LS , et al. 2013 Edit
GEN212 REEP3 receptor accessory protein 3 10q21.3 Rare single gene variant
1 3 Castermans D , et al. 2007 Edit
GEN491 RERE Arginine-glutamic acid dipeptide (RE) repeats 1p36.23 Rare single gene variant
4
 38 17 Prasad A , et al. 2013 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
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
GEN774 RNF135 Ring finger protein 135 17q11.2 Syndromic
0
 11 5 Tastet J , et al. 2015 Edit
GEN521 RNPS1 RNA binding protein with serine rich domain 1 16p13.3 Multigenic CNV
1 1 Nguyen LS , et al. 2013 Edit
GEN219 RORA RAR-related orphan receptor A 15q22.2 Functional
4
 27 25 Nguyen A , et al. 2010 Edit
GEN936 RP11-1407O15.2 Rare single gene variant
2
 2 1 Lim ET , et al. 2017 Edit
GEN1407 RPH3A rabphilin 3A 12q24.13 Rare single gene variant
3
 13 7 Pavinato L et al. 2023 Edit
GEN375 RPP25 ribonuclease P and MRP subunit p25 15q24.2 Functional
0
 1 2 Huang HS , et al. 2010 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
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
GEN739 SCN4A Sodium channel, voltage gated, type IV alpha subunit 17q23.3 Rare single gene variant
2
 7 6 Iossifov I et al. 2014 Edit
GEN327 SCN8A sodium channel, voltage gated, type VIII, alpha subunit 12q13.13 Rare single gene variant
4
 226 61 Veeramah KR , et al. 2012 Edit
GEN954 SCP2 sterol carrier protein 2 1p32.3 Rare single gene variant
2
 5 3 Sanders SJ , et al. 2012 Edit
GEN1296 SENP1 SUMO specific peptidase 1 12q13.11 Rare single gene variant
2
 3 3 Yang K et al. 2021 Edit
GEN640 SETBP1 SET binding protein 1 18q12.3 Rare single gene variant
4
 99 32 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
 60 20 Iossifov I 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
GEN601 SGSH N-sulfoglucosamine sulfohydrolase 17q25.3 Syndromic
0
 8 8 Rumsey RK , 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
 144 54 Berkel S , et al. 2010 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
 10 7 De Rubeis S , et al. 2014 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
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
GEN809 SLC22A9 solute carrier family 22 member 9 11q12.3 Rare single gene variant
2
 6 6 Sanders SJ , 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
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 8 6 Srour M , et al. 2017 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
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
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
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
 14 11 Iossifov I et al. 2014 Edit
GEN923 SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 19p13.2 Syndromic
4
 59 23 De Rubeis S , et al. 2014 Edit
GEN732 SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 12q13.2 Functional
4
 88 19 Neale BM , et al. 2012 Edit
GEN877 SMC3 structural maintenance of chromosomes 3 10q25.2 Syndromic
3
 28 14 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
GEN343 SNRPN small nuclear ribonucleoprotein polypeptide N 15q11.2 Rare Single Gene variant
6 5 Talkowski ME , et al. 2012 Edit
GEN466 SNX19 sorting nexin 19 11q24.3-q25 Rare single gene variant
0
 3 3 Winiowiecka-Kowalnik B , et al. 2012 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
GEN1061 SPEN spenfamily transcriptional repressor 1p36.21-p36.13 Rare single gene variant
5
 97 16 Iossifov I et al. 2014 Edit
GEN1356 SPRY2 sprouty RTK signaling antagonist 2 13q31.1 Functional
3
 3 3 Zhou X et al. 2022 Edit
GEN871 SRCAP Snf2 related CREBBP activator protein 16p11.2 Rare single gene variant
5
 65 14 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
GEN977 SSRP1 structure specific recognition protein 1 11q12.1 Rare single gene variant
2
 3 3 Iossifov I et al. 2014 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
GEN778 STYK1 Serine/threonine/tyrosine kinase 1 12p13.2 Genetic association
2
 7 4 Kuo PH , et al. 2015 Edit
GEN1145 SUPT16H SPT16 homolog, facilitates chromatin remodeling subunit 14q11.2 Rare single gene variant
2
 9 8 Iossifov I et al. 2014 Edit
GEN1213 SYCE1 synaptonemal complex central element protein 1 10q26.3 Rare single gene variant
2
 7 3 Luo Y et al. 2020 Edit
GEN929 SYNJ1 synaptojanin 1 21q22.11 Rare single gene variant
2
 7 3 Lim ET , et al. 2017 Edit
GEN1034 SYT1 synaptotagmin 1 12q21.2 Rare single gene variant
3
 34 11 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
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
GEN1277 TAF5 TATA-box binding protein associated factor 5 10q24.33 Rare single gene variant
2
 7 3 Wilfert AB et al. 2021 Edit
GEN995 TAFA2 TAFA chemokine like family member 2 12q14.1 Functional/multigenic CNV
4 1 Choi JH , et al. 2018 Edit
GEN992 TAFA3 TAFA chemokine like family member 3 1p13.2 Multigenic CNV
1 2 Kim S , et al. 2017 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
 55 13 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
GEN1371 TBCEL tubulin folding cofactor E like 11q23.3 Rare single gene variant
3
 3 3 Satterstrom FK et al. 2020 Edit
GEN592 TCF4 Transcription factor 4 18q21.2 Syndromic
4
 79 73 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
GEN933 TECTA tectorin alpha 11q23.3 Rare single gene variant
3
 12 9 Sanders SJ , et al. 2012 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
GEN1179 TFB2M transcription factor B2, mitochondrial 1q44 Rare single gene variant
Yes 1 1 Park CB et al. 2018 Edit
GEN1415 TGM1 transglutaminase 1 14q12 Rare single gene variant
3
 24 3 Cirnigliaro M et al. 2023 Edit
GEN251 TH tyrosine hydroxylase 11p15.5 Genetic Association
2
 8 21 Comings DE , et al. 1995 Edit
GEN696 THAP8 THAP domain containing 8 19q13.12 Rare single gene variant
2
 2 2 Li J , et al. 2015 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 22 O'Roak BJ , et al. 2011 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
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
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
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
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
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
GEN1433 TRPC4 transient receptor potential cation channel subfamily C member 4 13q13.3 Genetic association
2
 4 5 et al. 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
GEN256 TSC2 tuberous sclerosis 2 16p13.3 Genetic Association
5
 120 56 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
GEN1105 TSPAN4 tetraspanin 4 11p15.5 Rare single gene variant
2
 4 5 Iossifov I et al. 2014 Edit
GEN026 TSPOAP1 TSPO associated protein 1 17q22 Rare Single Gene variant
2
 15 7 Bucan M , et al. 2009 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
GEN1360 UBAP2L ubiquitin associated protein 2 like 1q21.3 Rare single gene variant
3
 15 5 Iossifov I et al. 2014 Edit
GEN262 UBE3A ubiquitin protein ligase E3A 15q11.2 Genetic Association
4
 44 45 Nurmi EL , et al. 2001 Edit
GEN351 UBE3B ubiquitin protein ligase E3B 12q24.11 Rare single gene variant
2
 Yes 30 11 Chahrour MH , 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
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
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
GEN869 UNC13A unc-13 homolog A 19p13.11 Rare single gene variant
3
 15 10 Lipstein N , et al. 2017 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
GEN518 UPF2 UPF2, regulator of nonsense mediated mRNA decay 10p14 Multigenic CNV
3
 13 10 Nguyen LS , et al. 2013 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
GEN758 USP7 Ubiquitin specific peptidase 7 (herpes virus-associated) 16p13.2 Rare single gene variant
2
 38 15 Hao YH , 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
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
GEN978 VRK3 vaccinia related kinase 3 19q13.33 Functional
1 2 Kang MS , et al. 2017 Edit
GEN654 WAC WW domain containing adaptor with coiled-coil 10p12.1 Syndromic
4
 68 30 Iossifov I et al. 2014 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
 33 10 Skraban CM , et al. 2017 Edit
GEN1424 WDR37 WD repeat domain 37 10p15.3 Rare single gene variant
2
 15 6 et al. Edit
GEN699 WDR93 WD repeat domain 93 15q26.1 Rare single gene variant
0
 Yes 3 3 Alazami AM , et al. 2015 Edit
GEN572 WNT1 Wingless-type MMTV integration site family, member 1 12q13.12 Genetic association
2
 5 6 Martin PM , et al. 2013 Edit
GEN851 WWOX WW domain containing oxidoreductase 16 Rare single gene variant
2
 42 15 Leppa VM , et al. 2016 Edit
GEN501 YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon 17p13.3 Multigenic CNV
3 5 Prasad A , 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
 31 13 Feliciano P et al. 2019 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
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
GEN1438 ZFHX3 zinc finger homeobox 3 16q22.2-q22.3 Rare single gene variant
4
 71 12 et al. 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
GEN641 ZMYND11 Zinc finger, MYND-type containing 11 10p15.3 Rare single gene variant
4
 53 14 Iossifov I , et al. 2012 Edit
GEN352 ZNF18 zinc finger protein 18 17p12 Rare single gene variant
2
 Yes 7 2 Chahrour MH , et al. 2012 Edit
GEN484 ZNF407 zinc finger protein 407 18q22.3 Rare Single Gene variant
2
 24 8 Ren CM , et al. 2012 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
GEN705 ZNF774 Zinc finger protein 774 15q26.1 Rare single gene variant
2
 15 4 De Rubeis S , et al. 2014 Edit
GEN293 ZSWIM5 zinc finger, SWIM-type containing 5 1p34.1 Rare Single Gene variant
2
 4 3 Salyakina D , et al. 2011 Edit
GEN798 ZWILCH zwilchkinetochore protein 15q22.31 Rare single gene variant
2
 6 5 Iossifov I et al. 2014 Edit

 

CNV Search Results

Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
 
10
Deletion-Duplication
 17
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 2
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 9
 
 
10
Deletion
 1
 
 
10
Deletion
 3
 
 
10
Deletion-Duplication
 18
 
 
10
Deletion-Duplication
 14
 
 
10
Deletion-Duplication
 1
 
 
10
Deletion-Duplication
 14
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Deletion
 4
 
 
10
Deletion
 7
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 24
 
 
10
Duplication
 2
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 3
 
 
10
Deletion-Duplication
 3
 
 
10
Deletion
 4
 
 
10
Duplication
 6
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 14
 
 
10
Duplication
 4
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 23
 
 
10
Duplication
 17
 
 
10
Duplication
 5
 
 
10
Duplication
 3
 
 
10
Deletion-Duplication
 28
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 5
 
 
10
Deletion
 2
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 44
 
 
10
Duplication
 2
 
 
10
Deletion
 9
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Deletion-Duplication
 11
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 16
 
 
10
Deletion-Duplication
 5
 
 
10
Deletion-Duplication
 25
 
 
10
Deletion
 2
 
 
10
Deletion
 10
 
 
10
Deletion
 1
 
 
10
Deletion
 8
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion
 3
 
 
10
Duplication
 2
 
 
10
Deletion-Duplication
 15
 
 
10
Deletion
 1
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Duplication
 2
 
 
10
Deletion
 1
 
 
10
Duplication
 2
 
 
10
Deletion-Duplication
 12
 
 
10
Deletion
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 10
 
 
10
Deletion
 1
 
 
10
Duplication
 2
 
 
10
Deletion-Duplication
 7
 
 
10
Duplication
 1
 
 
10
Duplication
 1
 
 
10
Deletion-Duplication
 13
 
 
10
Duplication
 1
 
 
10
Deletion
 4
 
 
10
Deletion
 2
 
 
10
Deletion-Duplication
 10
 
 
10
Deletion
 1
 
 
10
Deletion
 6
 
 
10
Deletion-Duplication
 10
 
 
10
Deletion-Duplication
 16
 
 
10
Deletion-Duplication
 43
 
 
11
Deletion-Duplication
 13
 
 
11
Deletion-Duplication
 15
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 15
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 29
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 4
 
 
11
Deletion-Duplication
 5
 
 
11
Deletion
 1
 
 
11
Deletion
 3
 
 
11
Deletion
 4
 
 
11
Deletion
 1
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 18
 
 
11
Deletion
 1
 
 
11
Deletion
 2
 
 
11
Deletion
 2
 
 
11
Deletion
 1
 
 
11
Duplication
 4
 
 
11
Deletion-Duplication
 20
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Duplication
 11
 
 
11
Deletion
 2
 
 
11
Deletion-Duplication
 34
 
 
11
Deletion-Duplication
 23
 
 
11
Duplication
 1
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 11
 
 
11
Duplication
 5
 
 
11
Deletion-Duplication
 7
 
 
11
Deletion-Duplication
 11
 
 
11
Deletion
 1
 
 
11
Deletion
 12
 
 
11
Deletion-Duplication
 1
 
 
11
Deletion-Duplication
 18
 
 
11
Deletion
 1
 
 
11
Deletion
 3
 
 
11
Duplication
 1
 
 
11
Deletion
 7
 
 
11
Duplication
 3
 
 
11
Deletion-Duplication
 17
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 34
 
 
11
Duplication
 2
 
 
11
Deletion
 1
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 10
 
 
11
Deletion
 3
 
 
11
Deletion-Duplication
 9
 
 
11
Deletion-Duplication
 2
 
 
11
Deletion
 1
 
 
11
Deletion-Duplication
 18
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 26
 
 
11
Deletion-Duplication
 5
 
 
11
Deletion
 3
 
 
11
Duplication
 2
 
 
11
Deletion-Duplication
 19
 
 
11
Duplication
 1
 
 
11
Deletion
 9
 
 
11
Duplication
 1
 
 
11
Deletion-Duplication
 5
 
 
11
Deletion-Duplication
 13
 
 
11
Deletion
 2
 
 
11
Deletion
 9
 
 
11
Deletion-Duplication
 11
 
 
11
Deletion
 9
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion-Duplication
 10
 
 
12
Deletion
 3
 
 
12
Deletion-Duplication
 15
 
 
12
Deletion
 1
 
 
12
Deletion
 2
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 10
 
 
12
Deletion
 1
 
 
12
Deletion
 11
 
 
12
Deletion-Duplication
 18
 
 
12
Deletion
 4
 
 
12
Deletion
 2
 
 
12
Duplication
 1
 
 
12
Deletion
 11
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 15
 
 
12
Deletion
 2
 
 
12
Deletion
 4
 
 
12
Deletion-Duplication
 27
 
 
12
Deletion-Duplication
 12
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 36
 
 
12
Duplication
 5
 
 
12
Deletion
 1
 
 
12
Duplication
 2
 
 
12
Duplication
 1
 
 
12
Duplication
 3
 
 
12
Deletion
 9
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 20
 
 
12
Deletion
 2
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 7
 
 
12
Deletion-Duplication
 8
 
 
12
Deletion-Duplication
 16
 
 
12
Deletion
 7
 
 
12
Duplication
 3
 
 
12
Duplication
 2
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 4
 
 
12
Deletion
 2
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 13
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 7
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 2
 
 
12
Deletion-Duplication
 10
 
 
12
Deletion
 1
 
 
12
Duplication
 3
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 11
 
 
12
Duplication
 2
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 6
 
 
12
Deletion
 2
 
 
12
Deletion-Duplication
 6
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 19
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 9
 
 
12
Deletion
 1
 
 
12
Deletion
 1
 
 
12
Deletion-Duplication
 11
 
 
12
Deletion
 7
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 2
 
 
12
Duplication
 1
 
 
12
Duplication
 3
 
 
12
Duplication
 6
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 5
 
 
12
Duplication
 1
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 26
 
 
12
Duplication
 1
 
 
12
Deletion-Duplication
 2
 
 
12
Deletion-Duplication
 10
 
 
12
Duplication
 4
 
 
12
Deletion-Duplication
 31
 
 
12
Deletion
 1
 
 
13
Duplication
 3
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 20
 
 
13
Deletion-Duplication
 3
 
 
13
Duplication
 2
 
 
13
N/A
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 2
 
 
13
Deletion-Duplication
 24
 
 
13
Deletion
 8
 
 
13
Deletion-Duplication
 6
 
 
13
Deletion
 2
 
 
13
Deletion
 2
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 6
 
 
13
Duplication
 2
 
 
13
Deletion-Duplication
 6
 
 
13
Duplication
 2
 
 
13
Duplication
 1
 
 
13
Deletion
 13
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 13
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 11
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 18
 
 
13
Deletion
 1
 
 
13
N/A
 1
 
 
13
Deletion-Duplication
 11
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 15
 
 
13
Duplication
 2
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion
 3
 
 
13
Deletion-Duplication
 15
 
 
13
Deletion
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 2
 
 
13
Deletion-Duplication
 7
 
 
13
Duplication
 6
 
 
13
Deletion
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 15
 
 
13
Deletion-Duplication
 2
 
 
13
Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 10
 
 
13
Duplication
 1
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 4
 
 
13
Deletion
 4
 
 
13
Deletion-Duplication
 1
 
 
13
Duplication
 1
 
 
13
Deletion-Duplication
 2
 
 
13
Deletion-Duplication
 8
 
 
13
Deletion
 6
 
 
13
Deletion-Duplication
 3
 
 
13
Deletion-Duplication
 2
 
 
13
Deletion-Duplication
 3
 
 
13
Deletion
 1
 
 
13
Deletion-Duplication
 25
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 51
 
 
14
Duplication
 4
 
 
14
Duplication
 1
 
 
14
Deletion
 2
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 22
 
 
14
Deletion
 1
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 2
 
 
14
Deletion-Duplication
 13
 
 
14
Deletion-Duplication
 12
 
 
14
Deletion-Duplication
 5
 
 
14
Deletion-Duplication
 14
 
 
14
Deletion
 2
 
 
14
Deletion-Duplication
 6
 
 
14
Deletion
 1
 
 
14
Deletion-Duplication
 16
 
 
14
Deletion
 4
 
 
14
Deletion-Duplication
 19
 
 
14
Duplication
 2
 
 
14
Deletion-Duplication
 7
 
 
14
Deletion-Duplication
 10
 
 
14
Duplication
 3
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 19
 
 
14
Deletion
 7
 
 
14
Duplication
 1
 
 
14
Deletion
 16
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Duplication
 2
 
 
14
Duplication
 1
 
 
14
Deletion
 1
 
 
14
Deletion
 7
 
 
14
Duplication
 1
 
 
14
Duplication
 2
 
 
14
Duplication
 1
 
 
14
Deletion-Duplication
 22
 
 
14
Deletion
 1
 
 
14
Deletion
 6
 
 
14
Deletion
 1
 
 
14
Deletion
 4
 
 
14
Deletion-Duplication
 11
 
 
14
Duplication
 2
 
 
14
Deletion-Duplication
 4
 
 
14
Deletion
 3
 
 
14
Deletion-Duplication
 31
 
 
15
Duplication
 10
  construct
 
15
Duplication
 1
 
 
15
Duplication
 6
 
 
15
Duplication
 3
 
 
15
Duplication
 9
 
 
15
Duplication
 2
 
 
15
Duplication
 5
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 114
 
 
15
Duplication
 10
 
 
15
Duplication
 81
  construct
 
15
Duplication
 9
 
 
15
Duplication
 19
 
 
15
Duplication
 3
 
 
15
Deletion-Duplication
 12
 
 
15
Duplication
 5
 
 
15
Duplication
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 14
 
 
15
Deletion-Duplication
 15
 
 
15
Deletion
 21
 
 
15
Deletion-Duplication
 16
 
 
15
Deletion-Duplication
 53
 
 
15
Deletion-Duplication
 78
  construct
 
15
Deletion-Duplication
 2
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 24
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 9
 
 
15
Deletion
 4
 
 
15
Deletion-Duplication
 10
 
 
15
Deletion-Duplication
 8
 
 
15
Deletion
 2
 
 
15
Deletion-Duplication
 10
 
 
15
Deletion
 1
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 19
 
 
15
Deletion
 6
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 11
 
 
15
Deletion-Duplication
 11
 
 
15
Deletion
 1
 
 
15
Deletion-Duplication
 13
 
 
15
Deletion
 9
 
 
15
Deletion
 3
 
 
15
Deletion
 1
 
 
15
Duplication
 2
 
 
15
Deletion-Duplication
 13
 
 
15
Deletion
 12
 
 
15
Duplication
 2
 
 
15
Deletion
 9
 
 
15
Duplication
 1
 
 
15
Duplication
 2
 
 
15
Duplication
 1
 
 
15
Deletion-Duplication
 7
 
 
15
Deletion
 1
 
 
15
Duplication
 2
 
 
15
Deletion-Duplication
 16
 
 
15
Deletion-Duplication
 29
 
 
15
Duplication
 4
 
 
15
Duplication
 3
 
 
15
Deletion-Duplication
 4
 
 
15
Deletion-Duplication
 36
 
 
16
Deletion-Duplication
 139
  construct
 
16
Deletion-Duplication
 20
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 25
 
 
16
Duplication
 15
 
 
16
Deletion-Duplication
 19
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 14
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 42
 
 
16
Deletion
 4
 
 
16
Deletion-Duplication
 68
 
 
16
Duplication
 3
 
 
16
Deletion-Duplication
 2
 
 
16
Deletion
 5
 
 
16
Deletion-Duplication
 1
 
 
16
Deletion-Duplication
 10
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 13
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 18
 
 
16
Deletion
 3
 
 
16
Duplication
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 23
 
 
16
Deletion
 3
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Duplication
 2
 
 
16
Deletion
 4
 
 
16
Deletion
 2
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 9
 
 
16
Duplication
 4
 
 
16
Deletion
 1
 
 
16
Deletion-Duplication
 47
 
 
16
Deletion
 3
 
 
16
Deletion
 1
 
 
16
Duplication
 6
 
 
16
Deletion-Duplication
 14
 
 
16
Deletion
 2
 
 
16
Deletion
 6
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 22
 
 
16
Deletion
 5
 
 
16
Deletion
 1
 
 
16
Duplication
 1
 
 
16
Deletion-Duplication
 21
 
 
16
Deletion
 2
 
 
16
Deletion-Duplication
 3
 
 
16
Deletion-Duplication
 10
 
 
16
Deletion
 12
 
 
16
Deletion-Duplication
 34
 
 
17
Deletion-Duplication
 63
  construct
 
17
Deletion-Duplication
 4
 
 
17
Deletion-Duplication
 36
 
 
17
Duplication
 7
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 29
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 20
 
 
17
Duplication
 8
 
 
17
Deletion-Duplication
 51
 
 
17
Duplication
 1
 
 
17
Duplication
 3
 
 
17
Deletion-Duplication
 5
 
 
17
Duplication
 9
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 6
 
 
17
Duplication
 3
 
 
17
Duplication
 2
 
 
17
Deletion-Duplication
 27
 
 
17
Deletion
 2
 
 
17
Deletion-Duplication
 74
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Duplication
 49
 
 
17
Deletion
 5
 
 
17
Duplication
 1
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 8
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 20
 
 
17
Deletion
 1
 
 
17
Deletion
 8
 
 
17
Duplication
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 11
 
 
17
Deletion
 2
 
 
17
Duplication
 1
 
 
17
Deletion
 1
 
 
17
Deletion
 13
 
 
17
Deletion
 2
 
 
17
Deletion-Duplication
 7
 
 
17
Deletion
 1
 
 
17
Duplication
 1
 
 
17
Deletion-Duplication
 24
 
 
17
Duplication
 1
 
 
17
Duplication
 3
 
 
17
Deletion-Duplication
 5
 
 
17
Deletion-Duplication
 29
 
 
18
Deletion-Duplication
 14
 
 
18
Duplication
 2
 
 
18
Deletion
 3
 
 
18
Duplication
 11
 
 
18
Duplication
 11
 
 
18
Deletion
 2
 
 
18
Deletion
 3
 
 
18
Deletion-Duplication
 11
 
 
18
Duplication
 2
 
 
18
Duplication
 2
 
 
18
Duplication
 1
 
 
18
Duplication
 1
 
 
18
Duplication
 2
 
 
18
Deletion-Duplication
 13
 
 
18
Duplication
 1
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 17
 
 
18
Deletion
 3
 
 
18
Deletion-Duplication
 1
 
 
18
Duplication
 1
 
 
18
Deletion-Duplication
 19
 
 
18
Deletion
 2
 
 
18
Deletion-Duplication
 16
 
 
18
N/A
 3
 
 
18
Deletion-Duplication
 16
 
 
18
Duplication
 2
 
 
18
Deletion-Duplication
 14
 
 
18
Deletion
 2
 
 
18
Duplication
 1
 
 
18
Deletion
 2
 
 
18
Deletion
 5
 
 
18
Deletion-Duplication
 10
 
 
18
Deletion
 4
 
 
18
Deletion-Duplication
 10
 
 
18
Deletion
 2
 
 
18
Deletion
 8
 
 
18
Deletion-Duplication
 5
 
 
18
Deletion-Duplication
 5
 
 
18
Deletion-Duplication
 8
 
 
18
Deletion
 3
 
 
18
Deletion
 1
 
 
18
Deletion-Duplication
 18
 
 
18
Deletion-Duplication
 5
 
 
18
Deletion
 1
 
 
19
Deletion-Duplication
 25
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 17
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 18
 
 
19
Duplication
 1
 
 
19
Deletion
 5
 
 
19
Duplication
 1
 
 
19
Deletion
 6
 
 
19
Duplication
 1
 
 
19
Deletion
 2
 
 
19
Deletion
 2
 
 
19
Deletion-Duplication
 31
 
 
19
Duplication
 2
 
 
19
Deletion-Duplication
 6
 
 
19
Deletion-Duplication
 3
 
 
19
Deletion-Duplication
 36
 
 
19
Duplication
 1
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 10
 
 
19
Deletion-Duplication
 11
 
 
19
Duplication
 3
 
 
19
Deletion
 1
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 17
 
 
19
Deletion
 6
 
 
19
Deletion
 2
 
 
19
Deletion-Duplication
 19
 
 
19
Deletion-Duplication
 13
 
 
19
Duplication
 2
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 19
 
 
19
Deletion-Duplication
 4
 
 
19
Duplication
 1
 
 
19
Deletion-Duplication
 30
 
 
19
Duplication
 6
 
 
19
Deletion-Duplication
 20
 
 
1
Duplication
 1
 
 
1
Deletion
 1
 
 
1
Deletion-Duplication
 1