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
	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
	GEN672	ACTN4	actinin alpha 4	19q13.2	Rare single gene variant	2		6		6	Li J , et al. 2015	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
	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
	GEN829	ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	19q13.2	Syndromic	3		64		25	Demos MK , et al. 2014	Edit
	GEN1224	BICRA	BRD4 interacting chromatin remodeling complex associated protein	19q13.33	Syndromic	3		15		2	Barish S et al. 2020	Edit
	GEN970	BRD4	bromodomain containing 4	19p13.12	Rare single gene variant	3		31		11	Iossifov I , et al. 2012	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
	GEN772	CAPN12	Calpain 12	19q13.2	Rare single gene variant	3		38		7	Sanders SJ , et al. 2015	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
	GEN882	CIC	capicua transcriptional repressor	19q13.2	Rare single gene variant	4		26		14	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
	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
	GEN808	EIF3G	eukaryotic translation initiation factor 3 subunit G	19p13.2	Rare single gene variant	2		7		5	Iossifov I , et al. 2012	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
	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
	GEN658	ETFB	Electron-transfer-flavoprotein, beta polypeptide	19q13.41	Rare single gene variant	2		12		5	O'Roak BJ , et al. 2012	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
	GEN742	GADD45B	Growth arrest and DNA-damage-inducible, beta	19p13.3	Functional	2		2		5	Garbett K , et al. 2008	Edit
	GEN722	GRIK5	Glutamate receptor, ionotropic, kainate 5	19q13.2	Rare single gene variant	3		11		10	De Rubeis S , 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
	GEN920	KLF16	Kruppel like factor 16	19p13.3	Rare single gene variant	2		2		1	Lim ET , et al. 2017	Edit
	GEN586	KPTN	kaptin, actin binding protein	19q13.32	Syndromic	2		18		9	Baple EL , et al. 2013	Edit
	GEN1208	LDLR	low density lipoprotein receptor	19p13.2	Rare single gene variant	2		8		3	Luo Y et al. 2020	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
	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
	GEN1302	MAST3	microtubule associated serine/threonine kinase 3	19p13.11	Functional	4		20		7	Spinelli E et al. 2021	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
	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
	GEN661	MYO9B	Myosin IXB	19p13.11	Rare single gene variant	3		34		6	De Rubeis S , et al. 2014	Edit
	GEN868	NACC1	nucleus accumbens associated 1	19p13.13	Rare single gene variant	3		16		11	Schoch K , et al. 2017	Edit
	GEN805	NFIX	nuclear factor I/X (CCAAT-binding transcription factor)	19p13.13	Syndromic	2		72		20	Malan V , et al. 2010	Edit
	GEN1172	NOVA2	NOVA alternative splicing regulator 2	19q13.32	Syndromic	3		16		3	Mattioli F et al. 2020	Edit
	GEN1009	NR1H2	nuclear receptor subfamily 1 group H member 2	19q13.33	Functional	2		1		2	Cai Y , et al. 2018	Edit
	GEN311	PDE4A	phosphodiesterase 4A	19p13.2	Functional	2		5		5	Braun NN , 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
	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
	GEN1432	PPFIA3	PTPRF interacting protein alpha 3	19q13.33	Rare single gene variant	3		26		8	et al.	Edit
	GEN1161	PPP5C	protein phosphatase 5 catalytic subunit	19q13.32	Rare single gene variant	2		4		3	Iossifov I et al. 2014	Edit
	GEN1128	PRKD2	protein kinase D2	19q13.32	Rare single gene variant	3		4		4	De Rubeis S , et al. 2014	Edit
	GEN1008	PRR12	proline rich 12	19q13.33	Syndromic	4		35		7	Leduc MS , et al. 2018	Edit
	GEN503	SAE1	SUMO1 activating enzyme subunit 1	19q13.32	Rare single gene variant	0		7		4	Prasad A , et al. 2013	Edit
	GEN1349	SCAF1	SR-related CTD associated factor 1	19q13.33	Rare single gene variant	3		26		4	Zhou X et al. 2022	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
	GEN1242	SIN3B	SIN3 transcription regulator family member B	19p13.11	Rare single gene variant	3		15		6	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
	GEN341	SYT3	synaptotagmin 3	19q13.33	Rare Single Gene variant	2		4		3	Sato D , et al. 2012	Edit
	GEN1262	TNPO2	transportin 2	19p13.13	Rare single gene variant	3		21		4	Goodman LD et al. 2021	Edit
	GEN850	TSHZ3	teashirt zinc finger homeobox 3	19	Rare single gene variant	2		10		5	Caubit X , et al. 2016	Edit
	GEN1422	U2AF2	U2 small nuclear RNA auxiliary factor 2	19q13.42	Rare single gene variant	3		52		7	et al.	Edit
	GEN869	UNC13A	unc-13 homolog A	19p13.11	Rare single gene variant	3		15		10	Lipstein N , et al. 2017	Edit
	GEN978	VRK3	vaccinia related kinase 3	19q13.33	Functional			1		2	Kang MS , et al. 2017	Edit
	GEN1287	ZBTB7A	zinc finger and BTB domain containing 7A	19p13.3	Syndromic	3		13		2	von der Lippe C et al. 2022	Edit
	GEN875	ZC3H4	zinc finger CCCH-type containing 4	19q13.32	Rare single gene variant	3		27		6	Iossifov I et al. 2014	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

CNV Search Results

PIN Search Results