NEUROD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 155417	GRCh38/hg38 2q31.1-32.3(chr2:176086763-193201970)x1	AGPS, ANKAR +377 more	Copy number loss	See cases	GPathogenic
Select item 58770	GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1	LOC126806416, LOC126806417 +591 more	Copy number loss	See cases	GPathogenic
Select item 153288	GRCh38/hg38 2q31.2-32.3(chr2:177827730-195125329)x1	ANKAR, ASDURF +312 more	Copy number loss	See cases	GPathogenic
Select item 58771	GRCh38/hg38 2q31.2-33.1(chr2:177874070-198525492)x1	ANKAR, ANKRD44 +430 more	Copy number loss	See cases	GPathogenic
Select item 58772	GRCh38/hg38 2q31.2-32.1(chr2:178880151-185352829)x1	CCDC141, CERKL +104 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +1097 more	Copy number gain	See cases	GPathogenic
Select item 148022	GRCh38/hg38 2q31.3-32.1(chr2:180942902-187372388)x1	CALCRL, CALCRL-AS1 +88 more	Copy number loss	See cases	GPathogenic
Select item 58811	GRCh38/hg38 2q31.3-32.1(chr2:181491072-182559009)x1	CERKL, ITGA4 +20 more	Copy number loss	See cases	GPathogenic
Select item 438234	Single allele	CERKL, ITGA4 +13 more	Deletion	Retinitis pigmentosa	GLikely pathogenic
Select item 897780	NM_002500.4(NEUROD1):c.*1601C>A	NEUROD1	Single nucleotide variant (genic downstream transcript variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333018	NM_002500.4(NEUROD1):c.*1595G>A	NEUROD1	Single nucleotide variant (genic downstream transcript variant)	Maturity-onset diabetes of the young type 6	GBenign
Select item 897781	NM_002500.4(NEUROD1):c.*1583T>C	NEUROD1	Single nucleotide variant (genic downstream transcript variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333019	NM_002500.4(NEUROD1):c.*1555C>T	NEUROD1	Single nucleotide variant (genic downstream transcript variant)	Maturity-onset diabetes of the young type 6	GLikely benign
Select item 897782	NM_002500.4(NEUROD1):c.*1486A>G	NEUROD1	Single nucleotide variant (genic downstream transcript variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333020	NM_002500.4(NEUROD1):c.*1339T>C	NEUROD1	Single nucleotide variant (genic downstream transcript variant)	Maturity-onset diabetes of the young type 6	GBenign
Select item 897783	NM_002500.5(NEUROD1):c.*1125T>G	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333021	NM_002500.5(NEUROD1):c.*1096T>C	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333022	NM_002500.5(NEUROD1):c.*1033T>G	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GBenign
Select item 898923	NM_002500.5(NEUROD1):c.*907T>C	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 898924	NM_002500.5(NEUROD1):c.*859C>A	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 898925	NM_002500.5(NEUROD1):c.*819C>G	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 898926	NM_002500.5(NEUROD1):c.*795T>C	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333023	NM_002500.5(NEUROD1):c.*773A>C	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 898927	NM_002500.5(NEUROD1):c.*719G>A	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GLikely benign
Select item 333024	NM_002500.5(NEUROD1):c.*718C>T	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333027	NM_002500.5(NEUROD1):c.674_677dup	NEUROD1	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 333026	NM_002500.5(NEUROD1):c.676_677dup	NEUROD1	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 333025	NM_002500.5(NEUROD1):c.*677dup	NEUROD1	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 333028	NM_002500.5(NEUROD1):c.642_643del	NEUROD1	Deletion (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 333029	NM_002500.5(NEUROD1):c.640_641dup	NEUROD1	Duplication (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 333030	NM_002500.5(NEUROD1):c.*617C>T	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 894794	NM_002500.5(NEUROD1):c.*608T>C	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333031	NM_002500.5(NEUROD1):c.*548T>A	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333032	NM_002500.5(NEUROD1):c.*463del	NEUROD1	Deletion (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 894795	NM_002500.5(NEUROD1):c.*454C>T	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333033	NM_002500.5(NEUROD1):c.370_371insT	NEUROD1	Insertion (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 894796	NM_002500.5(NEUROD1):c.*283A>G	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 894797	NM_002500.5(NEUROD1):c.*253A>G	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 333034	NM_002500.5(NEUROD1):c.164_165del	NEUROD1	Deletion (3 prime UTR variant)	Maturity onset diabetes mellitus in young	GUncertain significance
Select item 333035	NM_002500.5(NEUROD1):c.*78C>T	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GLikely benign
Select item 894798	NM_002500.5(NEUROD1):c.*75G>T	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 896245	NM_002500.5(NEUROD1):c.*6C>A	NEUROD1	Single nucleotide variant (3 prime UTR variant)	NEUROD1-related disorder +1 more	GBenign
Select item 1809694	NM_002500.5(NEUROD1):c.*1A>G	NEUROD1	Single nucleotide variant (3 prime UTR variant)	Maturity-onset diabetes of the young type 6 +1 more	GLikely benign
Select item 1014904	NM_002500.5(NEUROD1):c.1067A>G (p.Asp356Gly)	NEUROD1 (D356G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1345669	NM_002500.5(NEUROD1):c.1063C>T (p.His355Tyr)	NEUROD1 (H355Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714861	NM_002500.5(NEUROD1):c.1061T>A (p.Phe354Tyr)	NEUROD1 (F354Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1307264	NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val)	NEUROD1 (A352V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 896246	NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp)	NEUROD1 (A352D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1584195	NM_002500.5(NEUROD1):c.1050C>G (p.Leu350=)	NEUROD1	Single nucleotide variant (synonymous variant)	Maturity-onset diabetes of the young type 6 +2 more	GLikely benign
Select item 1506659	NM_002500.5(NEUROD1):c.1043C>T (p.Ala348Val)	NEUROD1 (A348V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2434329	NM_002500.5(NEUROD1):c.1040G>T (p.Ser347Ile)	NEUROD1 (S347I)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 1592262	NM_002500.5(NEUROD1):c.1035C>A (p.Val345=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1373739	NM_002500.5(NEUROD1):c.1033G>C (p.Val345Leu)	NEUROD1 (V345L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001142	NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln)	NEUROD1 (R344Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 943462	NM_002500.5(NEUROD1):c.1024C>A (p.His342Asn)	NEUROD1 (H342N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131412	NM_002500.5(NEUROD1):c.1022A>G (p.His341Arg)	NEUROD1 (H341R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3027518	NM_002500.5(NEUROD1):c.1013G>A (p.Ser338Asn)	NEUROD1 (S338N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 950336	NM_002500.5(NEUROD1):c.1013G>C (p.Ser338Thr)	NEUROD1 (S338T)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6 +2 more	GUncertain significance
Select item 2105884	NM_002500.5(NEUROD1):c.1011T>C (p.Asp337=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1959797	NM_002500.5(NEUROD1):c.1002G>A (p.Met334Ile)	NEUROD1 (M334I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1140135	NM_002500.5(NEUROD1):c.996T>C (p.Asn332=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027519	NM_002500.5(NEUROD1):c.993C>A (p.Asp331Glu)	NEUROD1 (D331E)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027520	NM_002500.5(NEUROD1):c.990A>G (p.Ile330Met)	NEUROD1 (I330M)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1481755	NM_002500.5(NEUROD1):c.989T>C (p.Ile330Thr)	NEUROD1 (I330T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358160	NM_002500.5(NEUROD1):c.982A>G (p.Ile328Val)	NEUROD1 (I328V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856273	NM_002500.5(NEUROD1):c.978C>A (p.Cys326Ter)	NEUROD1 (C326*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1430603	NM_002500.5(NEUROD1):c.978C>T (p.Cys326=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 333036	NM_002500.5(NEUROD1):c.973C>A (p.Arg325Ser)	NEUROD1 (R325S)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6 +1 more	GConflicting classifications of pathogenicity
Select item 939427	NM_002500.5(NEUROD1):c.967G>C (p.Ala323Pro)	NEUROD1 (A323P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1117915	NM_002500.5(NEUROD1):c.966T>C (p.Ala322=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3195312	NM_002500.5(NEUROD1):c.965C>A (p.Ala322Asp)	NEUROD1 (A322D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 845606	NM_002500.5(NEUROD1):c.964_965delinsAA (p.Ala322Asn)	NEUROD1 (A322N)	Indel (missense variant)	not provided	GUncertain significance
Select item 896247	NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr)	NEUROD1 (A322T)	Single nucleotide variant (missense variant)	Type 2 diabetes mellitus +4 more	GConflicting classifications of pathogenicity
Select item 2874451	NM_002500.5(NEUROD1):c.963C>T (p.Thr321=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124977	NM_002500.5(NEUROD1):c.956C>T (p.Ser319Leu)	NEUROD1 (S319L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023171	NM_002500.5(NEUROD1):c.948A>C (p.Ser316=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1377228	NM_002500.5(NEUROD1):c.944G>T (p.Gly315Val)	NEUROD1 (G315V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 896248	NM_002500.5(NEUROD1):c.944G>C (p.Gly315Ala)	NEUROD1 (G315A)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 3032881	NM_002500.5(NEUROD1):c.939C>T (p.Ser313=)	NEUROD1	Single nucleotide variant (synonymous variant)	NEUROD1-related disorder	GLikely benign
Select item 1907977	NM_002500.5(NEUROD1):c.935A>G (p.Gln312Arg)	NEUROD1 (Q312R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1113266	NM_002500.5(NEUROD1):c.933C>T (p.Ala311=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2556254	NM_002500.5(NEUROD1):c.931G>T (p.Ala311Ser)	NEUROD1 (A311S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2028462	NM_002500.5(NEUROD1):c.931del (p.Ala311fs)	NEUROD1 (A311fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 958159	NM_002500.5(NEUROD1):c.931G>A (p.Ala311Thr)	NEUROD1 (A311T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2004701	NM_002500.5(NEUROD1):c.927A>G (p.Ala309=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807538	NM_002500.5(NEUROD1):c.918G>A (p.Ala306=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1053839	NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val)	NEUROD1 (A306V)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6 +2 more	GUncertain significance
Select item 333037	NM_002500.5(NEUROD1):c.908A>G (p.Tyr303Cys)	NEUROD1 (Y303C)	Single nucleotide variant (missense variant)	Maturity-onset diabetes of the young type 6	GUncertain significance
Select item 1351393	NM_002500.5(NEUROD1):c.905A>G (p.His302Arg)	NEUROD1 (H302R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1138330	NM_002500.5(NEUROD1):c.900C>T (p.Thr300=)	NEUROD1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 746832	NM_002500.5(NEUROD1):c.882G>A (p.Glu294=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792198	NM_002500.5(NEUROD1):c.881A>G (p.Glu294Gly)	NEUROD1 (E294G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1649988	NM_002500.5(NEUROD1):c.879T>C (p.Phe293=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636799	NM_002500.5(NEUROD1):c.873C>T (p.Ala291=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613320	NM_002500.5(NEUROD1):c.868T>C (p.Ser290Pro)	NEUROD1 (S290P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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