7040[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 2663513	NM_000660.7(TGFB1):c.1161dup (p.Lys388fs)	TGFB1 (K388fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2696192	NM_000660.7(TGFB1):c.1160G>C (p.Cys387Ser)	TGFB1 (C387S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2073996	NM_000660.7(TGFB1):c.1159T>G (p.Cys387Gly)	TGFB1 (C387G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 488346	NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg)	TGFB1 (C387R)	Single nucleotide variant (missense variant)	Inflammatory bowel disease, immunodeficiency, and encephalopathy	GLikely pathogenic
Select item 2692804	NM_000660.7(TGFB1):c.1158C>G (p.Ser386=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1945243	NM_000660.7(TGFB1):c.1156_1157del (p.Ser386fs)	TGFB1 (S386fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2166952	NM_000660.7(TGFB1):c.1154G>A (p.Arg385His)	TGFB1 (R385H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1475445	NM_000660.7(TGFB1):c.1153C>G (p.Arg385Gly)	TGFB1 (R385G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1532501	NM_000660.7(TGFB1):c.1149C>T (p.Ile383=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1382552	NM_000660.7(TGFB1):c.1147A>T (p.Ile383Phe)	TGFB1 (I383F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908752	NM_000660.7(TGFB1):c.1145T>C (p.Met382Thr)	TGFB1 (M382T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2850312	NM_000660.7(TGFB1):c.1142A>G (p.Asn381Ser)	TGFB1 (N381S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1359501	NM_000660.7(TGFB1):c.1141A>C (p.Asn381His)	TGFB1 (N381H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2084839	NM_000660.7(TGFB1):c.1137G>A (p.Leu379=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2108060	NM_000660.7(TGFB1):c.1135C>T (p.Leu379=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2118917	NM_000660.7(TGFB1):c.1131G>A (p.Glu377=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2748256	NM_000660.7(TGFB1):c.1129G>A (p.Glu377Lys)	TGFB1 (E377K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799574	NM_000660.7(TGFB1):c.1108G>C (p.Val370Leu)	TGFB1 (V370L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 722804	NM_000660.7(TGFB1):c.1104C>T (p.Tyr368=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2839223	NM_000660.7(TGFB1):c.1099G>A (p.Val367Met)	TGFB1 (V367M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908628	NM_000660.7(TGFB1):c.1099G>C (p.Val367Leu)	TGFB1 (V367L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339634	NM_000660.7(TGFB1):c.1098C>T (p.Ile366=)	TGFB1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2017324	NM_000660.7(TGFB1):c.1098C>A (p.Ile366=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1716002	NM_000660.7(TGFB1):c.1096A>G (p.Ile366Val)	TGFB1 (I366V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1916238	NM_000660.7(TGFB1):c.1088C>G (p.Pro363Arg)	TGFB1 (P363R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706767	NM_000660.7(TGFB1):c.1079C>T (p.Ala360Val)	TGFB1 (A360V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007241	NM_000660.7(TGFB1):c.1074G>A (p.Pro358=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3350385	NM_000660.7(TGFB1):c.1070T>G (p.Val357Gly)	TGFB1 (V357G)	Single nucleotide variant (missense variant)	TGFB1-related disorder	GUncertain significance
Select item 1960085	NM_000660.7(TGFB1):c.1062G>A (p.Pro354=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1717451	NM_000660.7(TGFB1):c.1060C>T (p.Pro354Ser)	TGFB1 (P354S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507123	NM_000660.7(TGFB1):c.1047C>T (p.Gly349=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 726397	NM_000660.7(TGFB1):c.1047C>A (p.Gly349=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1306494	NM_000660.7(TGFB1):c.1031A>C (p.Asn344Thr)	TGFB1 (N344T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2870634	NM_000660.7(TGFB1):c.1029C>T (p.Tyr343=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943833	NM_000660.7(TGFB1):c.1021_1022delinsTT (p.Ala341Phe)	TGFB1 (A341F)	Indel (missense variant)	not provided	GUncertain significance
Select item 3176638	NM_000660.7(TGFB1):c.1021G>T (p.Ala341Ser)	TGFB1 (A341S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2977263	NM_000660.7(TGFB1):c.1021G>A (p.Ala341Thr)	TGFB1 (A341T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113033	NM_000660.7(TGFB1):c.1016T>A (p.Val339Asp)	TGFB1 (V339D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190003	NM_000660.7(TGFB1):c.1015-7C>G	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166673	NM_000660.7(TGFB1):c.1015-8G>A	TGFB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1536753	NM_000660.7(TGFB1):c.1015-12C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634447	NM_000660.7(TGFB1):c.1015-33GCCCTGA[3]	TGFB1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1230600	NM_000660.7(TGFB1):c.1014+286C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1672083	NM_000660.7(TGFB1):c.1014+20C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1007422	NM_000660.7(TGFB1):c.1014+17G>A	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872214	NM_000660.7(TGFB1):c.1014+16C>A	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811036	NM_000660.7(TGFB1):c.1014+16C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1542142	NM_000660.7(TGFB1):c.1014+15C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2003589	NM_000660.7(TGFB1):c.1014+5del	TGFB1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1518693	NM_000660.7(TGFB1):c.1014+5G>A	TGFB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1510573	NM_000660.7(TGFB1):c.1014+4C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1382525	NM_000660.7(TGFB1):c.1013A>C (p.Lys338Thr)	TGFB1 (K338T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597021	NM_000660.7(TGFB1):c.1010G>C (p.Ser337Thr)	TGFB1 (S337T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1383129	NM_000660.7(TGFB1):c.1004A>G (p.Gln335Arg)	TGFB1 (Q335R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1911603	NM_000660.7(TGFB1):c.1001C>T (p.Thr334Met)	TGFB1 (T334M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999855	NM_000660.7(TGFB1):c.984C>T (p.Tyr328=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760940	NM_000660.7(TGFB1):c.983A>G (p.Tyr328Cys)	TGFB1 (Y328C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1917611	NM_000660.7(TGFB1):c.973C>G (p.Pro325Ala)	TGFB1 (P325A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 704227	NM_000660.7(TGFB1):c.972G>A (p.Gly324=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1958983	NM_000660.7(TGFB1):c.969C>T (p.Leu323=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1637761	NM_000660.7(TGFB1):c.957C>G (p.Ala319=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841342	NM_000660.7(TGFB1):c.949del (p.Tyr317fs)	TGFB1 (Y317fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2841343	NM_000660.7(TGFB1):c.948C>G (p.Gly316=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1383975	NM_000660.7(TGFB1):c.944A>G (p.Lys315Arg)	TGFB1 (K315R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1648236	NM_000660.7(TGFB1):c.942C>T (p.Pro314=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2148803	NM_000660.7(TGFB1):c.939G>T (p.Glu313Asp)	TGFB1 (E313D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2606638	NM_000660.7(TGFB1):c.937G>A (p.Glu313Lys)	TGFB1 (E313K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1557574	NM_000660.7(TGFB1):c.936C>T (p.His312=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1061718	NM_000660.7(TGFB1):c.934C>T (p.His312Tyr)	TGFB1 (H312Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745656	NM_000660.7(TGFB1):c.931A>G (p.Ile311Val)	TGFB1 (I311V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015218	NM_000660.7(TGFB1):c.926A>G (p.Lys309Arg)	TGFB1 (K309R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198100	NM_000660.7(TGFB1):c.918C>T (p.Leu306=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1990873	NM_000660.7(TGFB1):c.908G>A (p.Arg303His)	TGFB1 (R303H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1365198	NM_000660.7(TGFB1):c.901G>C (p.Asp301His)	TGFB1 (D301H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972017	NM_000660.7(TGFB1):c.899T>C (p.Ile300Thr)	TGFB1 (I300T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 383807	NM_000660.7(TGFB1):c.897C>G (p.Tyr299Ter)	TGFB1 (Y299*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1506364	NM_000660.7(TGFB1):c.893T>C (p.Leu298Pro)	TGFB1 (L298P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 498591	NM_000660.7(TGFB1):c.887G>A (p.Arg296Gln)	TGFB1 (R296Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2745238	NM_000660.7(TGFB1):c.886C>G (p.Arg296Gly)	TGFB1 (R296G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2769957	NM_000660.7(TGFB1):c.883G>A (p.Val295Met)	TGFB1 (V295M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502131	NM_000660.7(TGFB1):c.870GAA[1] (p.Lys291del)	TGFB1 (K291del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 695154	NM_000660.7(TGFB1):c.873G>A (p.Lys291=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2984849	NM_000660.7(TGFB1):c.867G>T (p.Thr289=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496976	NM_000660.7(TGFB1):c.867G>A (p.Thr289=)	TGFB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1932954	NM_000660.7(TGFB1):c.866C>T (p.Thr289Met)	TGFB1 (T289M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2069765	NM_000660.7(TGFB1):c.865A>G (p.Thr289Ala)	TGFB1 (T289A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013824	NM_000660.7(TGFB1):c.863C>T (p.Ser288Phe)	TGFB1 (S288F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2036801	NM_000660.7(TGFB1):c.861-10C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632197	NM_000660.7(TGFB1):c.861-17G>A	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029788	NM_000660.7(TGFB1):c.861-18C>G	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900166	NM_000660.7(TGFB1):c.861-20C>G	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 256753	NM_000660.7(TGFB1):c.861-20C>T	TGFB1	Single nucleotide variant (intron variant)	Diaphyseal dysplasia +4 more	GBenign/Likely benign
Select item 1261994	NM_000660.7(TGFB1):c.860+51C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1629603	NM_000660.7(TGFB1):c.860+18G>C	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791700	NM_000660.7(TGFB1):c.860+15C>T	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708233	NM_000660.7(TGFB1):c.860+9T>G	TGFB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2175200	NM_000660.7(TGFB1):c.860+5G>A	TGFB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2110344	NM_000660.7(TGFB1):c.859A>T (p.Ser287Cys)	TGFB1 (S287C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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