ClinVar for Gene (Select 4760) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3195298	NM_002500.5(NEUROD1):c.809A>G (p.Asp270Gly)	NEUROD1 (D270G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3195290	NM_002500.5(NEUROD1):c.578G>A (p.Arg193Gln)	NEUROD1 (R193Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044126	NM_002500.5(NEUROD1):c.611C>T (p.Pro204Leu)	NEUROD1 (P204L)	Single nucleotide variant (missense variant)	NEUROD1-related disorder	GUncertain significance
Select item 3033670	NM_002500.5(NEUROD1):c.341T>A (p.Met114Lys)	NEUROD1 (M114K)	Single nucleotide variant (missense variant)	NEUROD1-related disorder	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 3031496	NM_002500.5(NEUROD1):c.852T>C (p.Ser284=)	NEUROD1	Single nucleotide variant (synonymous variant)	NEUROD1-related disorder	GLikely benign
Select item 3027523	NM_002500.5(NEUROD1):c.232G>C (p.Asp78His)	NEUROD1 (D78H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027522	NM_002500.5(NEUROD1):c.656A>G (p.Tyr219Cys)	NEUROD1 (Y219C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027521	NM_002500.5(NEUROD1):c.764C>T (p.Pro255Leu)	NEUROD1 (P255L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
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 3027519	NM_002500.5(NEUROD1):c.993C>A (p.Asp331Glu)	NEUROD1 (D331E)	Single nucleotide variant (missense variant)	Retinal dystrophy	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 3023171	NM_002500.5(NEUROD1):c.948A>C (p.Ser316=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009610	NM_002500.5(NEUROD1):c.554C>T (p.Ala185Val)	NEUROD1 (A185V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3005018	NM_002500.5(NEUROD1):c.93C>A (p.Asp31Glu)	NEUROD1 (D31E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001122	NM_002500.5(NEUROD1):c.654C>T (p.Pro218=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977140	NM_002500.5(NEUROD1):c.545A>G (p.Asn182Ser)	NEUROD1 (N182S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970000	NM_002500.5(NEUROD1):c.614C>A (p.Pro205His)	NEUROD1 (P205H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965553	NM_002500.5(NEUROD1):c.486C>T (p.Ser162=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962458	NM_002500.5(NEUROD1):c.36C>T (p.Gly12=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898238	NM_002500.5(NEUROD1):c.696T>C (p.Gly232=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874451	NM_002500.5(NEUROD1):c.963C>T (p.Thr321=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870810	NM_002500.5(NEUROD1):c.786T>A (p.Thr262=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858799	NM_002500.5(NEUROD1):c.659C>A (p.Ser220Tyr)	NEUROD1 (S220Y)	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 2839339	NM_002500.5(NEUROD1):c.112AAG[1] (p.Lys39del)	NEUROD1 (K39del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2830524	NM_002500.5(NEUROD1):c.583T>C (p.Phe195Leu)	NEUROD1 (F195L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829168	NM_002500.5(NEUROD1):c.408G>A (p.Lys136=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823223	NM_002500.5(NEUROD1):c.346G>A (p.Gly116Arg)	NEUROD1 (G116R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812562	NM_002500.5(NEUROD1):c.431G>T (p.Arg144Leu)	NEUROD1 (R144L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812410	NM_002500.5(NEUROD1):c.724G>T (p.Val242Phe)	NEUROD1 (V242F)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 2809956	NM_002500.5(NEUROD1):c.630C>T (p.Ala210=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809649	NM_002500.5(NEUROD1):c.741C>T (p.His247=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2807771	NM_002500.5(NEUROD1):c.175G>A (p.Glu59Lys)	NEUROD1 (E59K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807538	NM_002500.5(NEUROD1):c.918G>A (p.Ala306=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796391	NM_002500.5(NEUROD1):c.324C>T (p.Ala108=)	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 2787958	NM_002500.5(NEUROD1):c.25G>C (p.Gly9Arg)	NEUROD1 (G9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787957	NM_002500.5(NEUROD1):c.68C>G (p.Thr23Arg)	NEUROD1 (T23R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784163	NM_002500.5(NEUROD1):c.183C>G (p.Asp61Glu)	NEUROD1 (D61E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2780012	NM_002500.5(NEUROD1):c.772G>A (p.Glu258Lys)	NEUROD1 (E258K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2762982	NM_002500.5(NEUROD1):c.530C>A (p.Ser177Tyr)	NEUROD1 (S177Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2753891	NM_002500.5(NEUROD1):c.547C>T (p.Leu183=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2712143	NM_002500.5(NEUROD1):c.863A>T (p.Glu288Val)	NEUROD1 (E288V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704312	NM_002500.5(NEUROD1):c.619C>T (p.Leu207=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703016	NM_002500.5(NEUROD1):c.217G>T (p.Glu73Ter)	NEUROD1 (E73*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2691385	NM_002500.5(NEUROD1):c.337C>T (p.Arg113Cys)	NEUROD1 (R113C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671616	Single allele	CERKL, ITGA4 +2 more	Deletion	not provided	GUncertain significance
Select item 2651735	NM_002500.5(NEUROD1):c.196C>T (p.Leu66=)	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
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 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 2240832	NM_002500.5(NEUROD1):c.170G>C (p.Gly57Ala)	NEUROD1 (G57A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182482	NM_002500.5(NEUROD1):c.633C>A (p.Ser211Arg)	NEUROD1 (S211R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135879	NM_002500.5(NEUROD1):c.14A>G (p.Tyr5Cys)	NEUROD1 (Y5C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132032	NM_002500.5(NEUROD1):c.653C>G (p.Pro218Arg)	NEUROD1 (P218R)	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 2124977	NM_002500.5(NEUROD1):c.956C>T (p.Ser319Leu)	NEUROD1 (S319L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110415	NM_002500.5(NEUROD1):c.156A>G (p.Ser52=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108637	NM_002500.5(NEUROD1):c.645T>C (p.Pro215=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2105884	NM_002500.5(NEUROD1):c.1011T>C (p.Asp337=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102908	NM_002500.5(NEUROD1):c.754G>A (p.Ala252Thr)	NEUROD1 (A252T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097715	NM_002500.5(NEUROD1):c.61A>G (p.Ser21Gly)	NEUROD1 (S21G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097381	NM_002500.5(NEUROD1):c.421G>A (p.Glu141Lys)	NEUROD1 (E141K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097245	NM_002500.5(NEUROD1):c.461C>G (p.Ser154Trp)	NEUROD1 (S154W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087889	NM_002500.5(NEUROD1):c.141C>T (p.Asn47=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2080112	NM_002500.5(NEUROD1):c.490G>A (p.Asp164Asn)	NEUROD1 (D164N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073730	NM_002500.5(NEUROD1):c.523G>C (p.Gly175Arg)	NEUROD1 (G175R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067242	NM_002500.5(NEUROD1):c.658T>G (p.Ser220Ala)	NEUROD1 (S220A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038054	NM_002500.5(NEUROD1):c.102C>T (p.His34=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032915	NM_002500.5(NEUROD1):c.267G>A (p.Lys89=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028462	NM_002500.5(NEUROD1):c.931del (p.Ala311fs)	NEUROD1 (A311fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2028101	NM_002500.5(NEUROD1):c.604G>A (p.Asp202Asn)	NEUROD1 (D202N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026147	NM_002500.5(NEUROD1):c.139A>C (p.Asn47His)	NEUROD1 (N47H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023258	NM_002500.5(NEUROD1):c.620T>C (p.Leu207Pro)	NEUROD1 (L207P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2016539	NM_002500.5(NEUROD1):c.596A>G (p.Gln199Arg)	NEUROD1 (Q199R)	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 2001024	NM_002500.5(NEUROD1):c.261A>C (p.Lys87Asn)	NEUROD1 (K87N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1999027	NM_002500.5(NEUROD1):c.58C>G (p.Pro20Ala)	NEUROD1 (P20A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1997045	NM_002500.5(NEUROD1):c.259A>C (p.Lys87Gln)	NEUROD1 (K87Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1987662	NM_002500.5(NEUROD1):c.624G>A (p.Pro208=)	NEUROD1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1983935	NM_002500.5(NEUROD1):c.862G>A (p.Glu288Lys)	NEUROD1 (E288K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1981156	NM_002500.5(NEUROD1):c.644C>T (p.Pro215Leu)	NEUROD1 (P215L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966479	NM_002500.5(NEUROD1):c.781C>G (p.Leu261Val)	NEUROD1 (L261V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1962103	NM_002500.5(NEUROD1):c.29T>C (p.Leu10Pro)	NEUROD1 (L10P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1959274	NM_002500.5(NEUROD1):c.257C>T (p.Pro86Leu)	NEUROD1 (P86L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958725	NM_002500.5(NEUROD1):c.311T>C (p.Met104Thr)	NEUROD1 (M104T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956507	NM_002500.5(NEUROD1):c.714T>G (p.His238Gln)	NEUROD1 (H238Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955451	NM_002500.5(NEUROD1):c.208G>C (p.Glu70Gln)	NEUROD1 (E70Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943346	NM_002500.5(NEUROD1):c.284G>T (p.Arg95Leu)	NEUROD1 (R95L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924872	NM_002500.5(NEUROD1):c.236A>G (p.Gln79Arg)	NEUROD1 (Q79R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1921211	NM_002500.5(NEUROD1):c.253G>A (p.Gly85Ser)	NEUROD1 (G85S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911915	NM_002500.5(NEUROD1):c.729G>C (p.Lys243Asn)	NEUROD1 (K243N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1714861	NM_002500.5(NEUROD1):c.1061T>A (p.Phe354Tyr)	NEUROD1 (F354Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713766	NM_002500.5(NEUROD1):c.728A>G (p.Lys243Arg)	NEUROD1 (K243R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic

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