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		21		7	He Z , et al. 2013	Edit
	GEN672	ACTN4	actinin alpha 4	19q13.2	Rare single gene variant	2		8		7	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		4		5	Iossifov I et al. 2014	Edit
	GEN713	ARHGAP33	Rho GTPase activating protein 33	19q13.12	Functional	2		8		5	Schuster S , et al. 2015	Edit
	GEN829	ATP1A3	ATPase Na+/K+ transporting subunit alpha 3	19q13.2	Syndromic	3		68		28	Demos MK , et al. 2014	Edit
	GEN1224	BICRA	BRD4 interacting chromatin remodeling complex associated protein	19q13.33	Syndromic	3		19		5	Barish S et al. 2020	Edit
	GEN970	BRD4	bromodomain containing 4	19p13.12	Rare single gene variant	3		33		13	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		139		52	Damaj L , et al. 2015	Edit
	GEN772	CAPN12	Calpain 12	19q13.2	Rare single gene variant	3		41		9	Sanders SJ , et al. 2015	Edit
	GEN621	CC2D1A	Coiled-coil and C2 domain containing 1A	19p13.12	Rare single gene variant	2	Yes	37		22	Manzini MC , et al. 2014	Edit
	GEN882	CIC	capicua transcriptional repressor	19q13.2	Rare single gene variant	4		35		20	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
	GEN866	CNOT3	CCR4-NOT transcription complex subunit 3	19q13.42	Rare single gene variant	4		94		27	et al. 2017	Edit
	GEN071	DMPK	dystrophia myotonica-protein kinase	19q13.32	Syndromic	3		17		14	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
	GEN1503	DOT1L	DOT1 like histone lysine methyltransferase	19p13.3	Rare single gene variant	4		38		6	Marissa J Maroni et al.	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		15		6	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		12		11	De Rubeis S , et al. 2014	Edit
	GEN1518	HNRNPL	heterogeneous nuclear ribonucleoprotein L	19q13.2	Rare single gene variant	2		3		2	Soo-Whee Kim et al. 2025	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
	GEN1466	KMT2B	lysine methyltransferase 2B	19q13.12	Rare single gene variant	4		76		13	Karen Lob et al.	Edit
	GEN586	KPTN	kaptin, actin binding protein	19q13.32	Syndromic	2		72		10	Baple EL , et al. 2013	Edit
	GEN1208	LDLR	low density lipoprotein receptor	19p13.2	Rare single gene variant	2		11		4	Luo Y et al. 2020	Edit
	GEN968	LILRB2	leukocyte immunoglobulin like receptor B2	19q13.42	Rare single gene variant	2		10		4	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		4		4	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		5		6	Iossifov I et al. 2014	Edit
	GEN1502	MAST1	microtubule associated serine/threonine kinase 1	19p13.13	Rare single gene variant	3		22		5	Steven Laurie et al. 2025	Edit
	GEN1302	MAST3	microtubule associated serine/threonine kinase 3	19p13.11	Functional	4		22		9	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	71		24	Johansen A , et al. 2016	Edit
	GEN661	MYO9B	Myosin IXB	19p13.11	Rare single gene variant	3		41		10	De Rubeis S , et al. 2014	Edit
	GEN868	NACC1	nucleus accumbens associated 1	19p13.13	Rare single gene variant	2		17		12	Schoch K , et al. 2017	Edit
	GEN805	NFIX	nuclear factor I/X (CCAAT-binding transcription factor)	19p13.13	Syndromic	2		75		23	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		13		11	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	Maimuna S Paul et al. 2024	Edit
	GEN1540	PPP2R1A	protein phosphatase 2 scaffold subunit Aalpha	19q13.41	Rare single gene variant	3		37		6	Gülsüm Kayhan et al. 2026	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		40		11	Leduc MS , et al. 2018	Edit
	GEN1513	PTPRS	protein tyrosine phosphatase receptor type S	19p13.3	Functional	3		12		10	Congcong Chen 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
	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		67		21	Sato D , et al. 2012	Edit
	GEN1242	SIN3B	SIN3 transcription regulator family member B	19p13.11	Rare single gene variant	3		16		8	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		63		27	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
	GEN1507	TBCB	tubulin folding cofactor B	19q13.12	Rare single gene variant	2	Yes	10		3	Sharon Bratman Morag et al.	Edit
	GEN696	THAP8	THAP domain containing 8	19q13.12	Rare single gene variant	2		2		2	Li J , et al. 2015	Edit
	GEN1262	TNPO2	transportin 2	19p13.13	Rare single gene variant	3		23		6	Goodman LD et al. 2021	Edit
	GEN850	TSHZ3	teashirt zinc finger homeobox 3	19	Rare single gene variant	2		12		8	Caubit X , et al. 2016	Edit
	GEN1422	U2AF2	U2 small nuclear RNA auxiliary factor 2	19q13.42	Rare single gene variant	3		52		8	Dong Li et al. 2024	Edit
	GEN869	UNC13A	unc-13 homolog A	19p13.11	Rare single gene variant	4		73		12	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		14		3	von der Lippe C et al. 2022	Edit
	GEN875	ZC3H4	zinc finger CCCH-type containing 4	19q13.32	Rare single gene variant	3		29		8	Iossifov I et al. 2014	Edit
	GEN1478	ZNF536	zinc finger protein 536	19q12	Functional	3		8		11	Soo-Whee Kim et al. 2024	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		34		10	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
	GEN1520	ZNF865	zinc finger protein 865	19q13.42	Rare single gene variant	3		26		5	Samuel M Bradbrook et al. 2026	Edit

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