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
	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
	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
	GEN1382	ARF3	ADP ribosylation factor 3	12q13.12	Rare single gene variant	2		11		5	Feliciano P et al. 2019	Edit
	GEN1089	ARID2	AT-rich interaction domain 2	12q12	Rare single gene variant	4		58		17	Iossifov I 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
	GEN023	AVPR1A	arginine vasopressin receptor 1A	12q14.2	Rare Single Gene variant, Genetic Association	2		37		24	Yirmiya N , et al. 2006	Edit
	GEN040	BICDL1	BICD family like cargo adaptor 1	12q24.23	Genetic Association			2		2	Wang K , et al. 2009	Edit
	GEN544	C12orf57	Chromosome 12 open reading frame 57	12p13.31	Syndromic	2		45		15	Akizu N , et al. 2013	Edit
	GEN031	CACNA1C	calcium channel, voltage-dependent, L type, alpha 1C subunit	12p13.33	Syndromic	4		86		63	Splawski I , et al. 2004	Edit
	GEN799	CCDC91	coiled-coil domain containing 91	12p11.22	Rare single gene variant	2		5		6	Shen Y , et al. 2010	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
	GEN583	CEP290	Centrosomal protein 290kDa	12q21.32	Syndromic	3		24		14	Coppieters F , et al. 2010	Edit
	GEN579	CLSTN3	Calsyntenin 3	12p13.31	Functional	2		6		7	Pettem KL , et al. 2013	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
	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
	GEN825	DENR	density-regulated protein	12q24.31	Rare single gene variant	3		3		4	Neale BM , et al. 2012	Edit
	GEN703	DNAH10	Dynein, axonemal, heavy chain 10	12q24.31	Rare single gene variant	4		101		10	Iossifov I , et al. 2012	Edit
	GEN427	DNM1L	Dynamin 1-like	12p11.21	Functional	2		10		9	Anitha A , et al. 2012	Edit
	GEN353	EP400	E1A binding protein p400	12q24.33	Rare single gene variant	4	Yes	71		10	Chahrour MH , et al. 2012	Edit
	GEN574	EPS8	epidermal growth factor receptor pathway substrate 8	12p12.3	Functional			0		1	Menna E , et al. 2013	Edit
	GEN1177	FBRSL1	fibrosin like 1	12q24.33	Syndromic	2		5		3	Ufartes R 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
	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
	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
	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
	GEN138	ITGB7	integrin, beta 7	12q13.13	Functional	2		4		5	Hu VW , et al. 2006	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
	GEN1364	KDM2B	lysine demethylase 2B	12q24.31	Syndromic	3		28		10	Iossifov I 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
	GEN779	KRR1	KRR1, small subunit (SSU) processome component, homolog (yeast)	12q21.2	Genetic association	2		5		3	Kuo PH , et al. 2015	Edit
	GEN1352	LEMD3	LEM domain containing 3	12q14.3	Rare single gene variant	2		3		3	Zhou X et al. 2022	Edit
	GEN1088	LRP1	LDL receptor related protein 1	12q13.3	Rare single gene variant	4		45		10	De Rubeis S , et al. 2014	Edit
	GEN437	MBD6	Methyl-CpG binding domain protein 6	12q13.3	Rare single gene variant	3		17		3	Cukier HN , et al. 2012	Edit
	GEN649	MED13L	Mediator complex subunit 13-like	12q24.21	Rare single gene variant	4		126		54	Iossifov I , et al. 2012	Edit
	GEN165	MYO1A	myosin IA	12q13.3	Rare Single Gene variant	2		22		12	O'Roak BJ , et al. 2011	Edit
	GEN1347	NAV3	neuron navigator 3	12q21.2	Rare single gene variant	4		44		5	Zhou X et al. 2022	Edit
	GEN350	NCKAP5L	NCK-associated protein 5-like	12q13.12	Rare single gene variant	2	Yes	12		4	Chahrour MH , 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
	GEN756	NUAK1	NUAK family, SNF1-like kinase, 1	12q23.3	Rare single gene variant	2		4		6	Iossifov I , et al. 2012	Edit
	GEN629	P2RX4	Purinergic receptor P2X, ligand-gated ion channel, 4	12q24.31	Functional			0		1	Wyatt LR , et al. 2013	Edit
	GEN527	PAH	Phenylalanine hydroxylase	12q23.2	Rare single gene variant	2	Yes	22		12	Yu TW , et al. 2013	Edit
	GEN588	PRICKLE1	Prickle homolog 1 (Drosophila)	12q12	Syndromic	2		9		7	Paemka L , et al. 2013	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
	GEN1235	RFX4	regulatory factor X4	12q23.3	Rare single gene variant	2	Yes	5		2	Harris HK et al. 2021	Edit
	GEN1407	RPH3A	rabphilin 3A	12q24.13	Rare single gene variant	3		13		7	Pavinato L et al. 2023	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
	GEN1296	SENP1	SUMO specific peptidase 1	12q13.11	Rare single gene variant	2		3		3	Yang K et al. 2021	Edit
	GEN994	SETD1B	SET domain containing 1B	12q24.31	Syndromic	4		60		20	Iossifov I et al. 2014	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
	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
	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
	GEN366	SOX5	SRY-box 5	12p12.1	Rare single gene variant	4		80		22	Rosenfeld JA , et al. 2010	Edit
	GEN671	SRRM4	Serine/arginine repetitive matrix 4	12q24.23	Functional	2		3		7	Irimia M , et al. 2014	Edit
	GEN778	STYK1	Serine/threonine/tyrosine kinase 1	12p13.2	Genetic association	2		7		4	Kuo PH , et al. 2015	Edit
	GEN1034	SYT1	synaptotagmin 1	12q21.2	Rare single gene variant	3		34		11	De Rubeis S , et al. 2014	Edit
	GEN995	TAFA2	TAFA chemokine like family member 2	12q14.1	Functional/multigenic CNV			4		1	Choi JH , et al. 2018	Edit
	GEN1278	TMEM132D	transmembrane protein 132D	12q24.33	Genetic association/Functional	2		6		4	Wilfert AB et al. 2021	Edit
	GEN1216	TNS2	tensin 2	12q13.13	Rare single gene variant	2		8		4	Luo Y et al. 2020	Edit
	GEN254	TPH2	tryptophan hydroxylase 2	12q21.1	Genetic Association	2		12		15	Coon H , et al. 2005	Edit
	GEN351	UBE3B	ubiquitin protein ligase E3B	12q24.11	Rare single gene variant	2	Yes	30		11	Chahrour MH , 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
	GEN1051	VDR	vitamin D receptor	12q13.11	Genetic association			12		10	Schmidt RJ , 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

CNV Search Results

PIN Search Results