NEUROD2[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 60170	GRCh38/hg38 17q12(chr17:39365569-39612092)x3	CDK12, FBXL20 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2580592	NM_006160.4(NEUROD2):c.1119C>A (p.Tyr373Ter)	NEUROD2 (Y373*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1684945	NM_006160.4(NEUROD2):c.1116G>T (p.Met372Ile)	NEUROD2 (M372I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319213	NM_006160.4(NEUROD2):c.1109G>T (p.Gly370Val)	NEUROD2 (G370V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289621	NM_006160.4(NEUROD2):c.1074_1076del (p.Leu359del)	NEUROD2 (L359del)	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 3365403	NM_006160.4(NEUROD2):c.1013C>G (p.Thr338Arg)	NEUROD2 (T338R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367227	NM_006160.4(NEUROD2):c.1008_1012del (p.Pro337fs)	NEUROD2 (P337fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3299382	NM_006160.4(NEUROD2):c.991G>C (p.Ala331Pro)	NEUROD2 (A331P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329192	NM_006160.4(NEUROD2):c.986A>T (p.Tyr329Phe)	NEUROD2 (Y329F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1193278	NM_006160.4(NEUROD2):c.977_978del (p.Ser326fs)	NEUROD2 (S326fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2596313	NM_006160.4(NEUROD2):c.956A>G (p.His319Arg)	NEUROD2 (H319R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572311	NM_006160.4(NEUROD2):c.952G>C (p.Asp318His)	NEUROD2 (D318H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706450	NM_006160.4(NEUROD2):c.940G>T (p.Asp314Tyr)	NEUROD2 (D314Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72	GUncertain significance
Select item 2692466	NM_006160.4(NEUROD2):c.917A>G (p.Asn306Ser)	NEUROD2 (N306S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434330	NM_006160.4(NEUROD2):c.914T>G (p.Leu305Arg)	NEUROD2 (L305R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72	GUncertain significance
Select item 2434332	NM_006160.4(NEUROD2):c.905C>A (p.Pro302Gln)	NEUROD2 (P302Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72	GUncertain significance
Select item 1723482	NM_006160.4(NEUROD2):c.870C>G (p.Tyr290Ter)	NEUROD2 (Y290*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1878861	NM_006160.4(NEUROD2):c.830T>A (p.Leu277Gln)	NEUROD2 (L277Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2301255	NM_006160.4(NEUROD2):c.790G>A (p.Ala264Thr)	NEUROD2 (A264T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3370166	NM_006160.4(NEUROD2):c.759_773del (p.Ala254_Gly258del)	NEUROD2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3043354	NM_006160.4(NEUROD2):c.771G>A (p.Leu257=)	NEUROD2	Single nucleotide variant (synonymous variant)	NEUROD2-related disorder	GBenign
Select item 3195355	NM_006160.4(NEUROD2):c.745G>A (p.Ala249Thr)	NEUROD2 (A249T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434331	NM_006160.4(NEUROD2):c.742G>A (p.Gly248Ser)	NEUROD2 (G248S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72	GUncertain significance
Select item 1684946	NM_006160.4(NEUROD2):c.734G>C (p.Arg245Pro)	NEUROD2 (R245P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493630	NM_006160.4(NEUROD2):c.733C>T (p.Arg245Cys)	NEUROD2 (R245C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1711437	NM_006160.4(NEUROD2):c.725C>A (p.Pro242Gln)	NEUROD2 (P242Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2647716	NM_006160.4(NEUROD2):c.720G>T (p.Pro240=)	NEUROD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2534328	NM_006160.4(NEUROD2):c.670G>A (p.Ala224Thr)	NEUROD2 (A224T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1804464	NM_006160.4(NEUROD2):c.652G>T (p.Glu218Ter)	NEUROD2 (E218*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1805206	NM_006160.4(NEUROD2):c.517C>A (p.Leu173Ile)	NEUROD2 (L173I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72	GUncertain significance
Select item 1327115	NM_006160.4(NEUROD2):c.488T>C (p.Leu163Pro)	NEUROD2 (L163P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72	GUncertain significance
Select item 3365778	NM_006160.4(NEUROD2):c.475A>G (p.Lys159Glu)	NEUROD2 (K159E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1329764	NM_006160.4(NEUROD2):c.406G>T (p.Asp136Tyr)	NEUROD2 (D136Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 625140	NM_006160.4(NEUROD2):c.401T>C (p.Met134Thr)	NEUROD2 (M134T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72	GPathogenic
Select item 2502367	NM_006160.4(NEUROD2):c.400A>G (p.Met134Val)	NEUROD2 (M134V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72	GUncertain significance
Select item 872718	NM_006160.4(NEUROD2):c.389A>C (p.Glu130Ala)	NEUROD2 (E130A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2430913	NM_006160.4(NEUROD2):c.388G>A (p.Glu130Lys)	NEUROD2 (E130K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 625139	NM_006160.4(NEUROD2):c.388G>C (p.Glu130Gln)	NEUROD2 (E130Q)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72	GPathogenic
Select item 1805399	NM_006160.4(NEUROD2):c.355T>C (p.Ser119Pro)	NEUROD2 (S119P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72	GUncertain significance
Select item 2527584	NM_006160.4(NEUROD2):c.346T>G (p.Leu116Val)	NEUROD2 (L116V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3371000	NM_006160.4(NEUROD2):c.313_327del (p.Gly105_Arg109del)	NEUROD2	Deletion	not provided	GUncertain significance
Select item 3056028	NM_006160.4(NEUROD2):c.246GGA[3] (p.Glu91del)	NEUROD2 (E91del)	Microsatellite	NEUROD2-related disorder	GLikely benign
Select item 3026315	NM_006160.4(NEUROD2):c.239G>T (p.Gly80Val)	NEUROD2 (G80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701692	NM_006160.4(NEUROD2):c.211G>A (p.Ala71Thr)	NEUROD2 (A71T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72	GUncertain significance
Select item 2585123	NM_006160.4(NEUROD2):c.208T>G (p.Leu70Val)	NEUROD2 (L70V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72	GPathogenic
Select item 1694841	NM_006160.4(NEUROD2):c.198G>A (p.Thr66=)	NEUROD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3195343	NM_006160.4(NEUROD2):c.197C>T (p.Thr66Met)	NEUROD2 (T66M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218864	NM_006160.4(NEUROD2):c.196A>G (p.Thr66Ala)	NEUROD2 (T66A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336414	NM_006160.4(NEUROD2):c.185G>C (p.Gly62Ala)	NEUROD2 (G62A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2387308	NM_006160.4(NEUROD2):c.181C>G (p.Arg61Gly)	NEUROD2 (R61G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505804	NM_006160.4(NEUROD2):c.178C>T (p.Leu60Phe)	NEUROD2 (L60F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701319	NM_006160.4(NEUROD2):c.173T>C (p.Val58Ala)	NEUROD2 (V58A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2321098	NM_006160.4(NEUROD2):c.172G>A (p.Val58Ile)	NEUROD2 (V58I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1696587	NM_006160.4(NEUROD2):c.169C>T (p.Pro57Ser)	NEUROD2 (P57S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 72 +1 more	GUncertain significance
Select item 2577705	NM_006160.4(NEUROD2):c.143C>T (p.Ala48Val)	NEUROD2 (A48V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3026413	NM_006160.4(NEUROD2):c.128C>T (p.Ala43Val)	NEUROD2 (A43V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3043043	NM_006160.4(NEUROD2):c.114A>G (p.Pro38=)	NEUROD2	Single nucleotide variant (synonymous variant)	NEUROD2-related disorder	GBenign
Select item 2687482	NM_006160.4(NEUROD2):c.82G>T (p.Glu28Ter)	NEUROD2 (E28*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 72	GUncertain significance
Select item 3257280	NM_006160.4(NEUROD2):c.72C>G (p.Gly24=)	NEUROD2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1700901	NM_006160.4(NEUROD2):c.63G>C (p.Trp21Cys)	NEUROD2 (W21C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698274	NM_006160.4(NEUROD2):c.60C>A (p.Ser20Arg)	NEUROD2 (S20R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647717	NM_006160.4(NEUROD2):c.12C>G (p.Arg4=)	NEUROD2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 780423	NM_006160.4(NEUROD2):c.12C>T (p.Arg4=)	NEUROD2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3343826	NM_006160.4(NEUROD2):c.10C>G (p.Arg4Gly)	NEUROD2 (R4G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364543	NM_006160.4(NEUROD2):c.-1C>T	NEUROD2	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 688925	GRCh37/hg19 17q12(chr17:37190609-37868002)x3	ARL5C, CACNB1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	not provided	GUncertain significance
Select item 443556	GRCh37/hg19 17q12(chr17:37313691-37868516)x3	ARL5C, CACNB1 +12 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 3360853	NM_006160.4(NEUROD2):c.970C>G (p.His324Asp)	NEUROD2 (H324D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360001	NM_006160.4(NEUROD2):c.42C>G (p.Asp14Glu)	NEUROD2 (D14E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 78