"Ambry Genetics"[submitter] AND "TXNRD2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1775547	NM_006440.5(TXNRD2):c.1573T>C (p.Ter525Gln)	TXNRD2	Single nucleotide variant (stop lost +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 958732	NM_006440.5(TXNRD2):c.1559C>G (p.Thr520Arg)	TXNRD2 (T490R +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +2 more	GUncertain significance
Select item 1411159	NM_006440.5(TXNRD2):c.1554G>A (p.Thr518=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1775101	NM_006440.5(TXNRD2):c.1553C>T (p.Thr518Met)	TXNRD2 (T518M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1470688	NM_006440.5(TXNRD2):c.1549C>T (p.Pro517Ser)	TXNRD2 (P516S +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1004501	NM_006440.5(TXNRD2):c.1535G>A (p.Arg512His)	TXNRD2 (R416H +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +2 more	GUncertain significance
Select item 852325	NM_006440.5(TXNRD2):c.1534C>T (p.Arg512Cys)	TXNRD2 (R416C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 263535	NM_006440.5(TXNRD2):c.1523G>A (p.Arg508His)	TXNRD2 (R508H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 3225590	NM_006440.5(TXNRD2):c.1521G>T (p.Leu507=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1774296	NM_006440.5(TXNRD2):c.1515C>T (p.Val505=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 264602	NM_006440.5(TXNRD2):c.1514T>A (p.Val505Asp)	TXNRD2 (V505D +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 263607	NM_006440.5(TXNRD2):c.1511T>C (p.Val504Ala)	TXNRD2 (V504A +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 389754	NM_006440.5(TXNRD2):c.1509G>A (p.Glu503=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 2449546	NM_006440.5(TXNRD2):c.1500C>T (p.Cys500=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1093664	NM_006440.5(TXNRD2):c.1499G>T (p.Cys500Phe)	TXNRD2 (C404F +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1773930	NM_006440.5(TXNRD2):c.1498T>C (p.Cys500Arg)	TXNRD2 (C404R +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 391133	NM_006440.5(TXNRD2):c.1497A>G (p.Thr499=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1773895	NM_006440.5(TXNRD2):c.1496C>T (p.Thr499Ile)	TXNRD2 (T498I +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1006684	NM_006440.5(TXNRD2):c.1492C>T (p.Pro498Ser)	TXNRD2 (P402S +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1773493	NM_006440.5(TXNRD2):c.1478C>T (p.Thr493Ile)	TXNRD2 (T397I +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1019322	NM_006440.5(TXNRD2):c.1475G>A (p.Arg492Gln)	TXNRD2 (R396Q +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 1134686	NM_006440.5(TXNRD2):c.1474C>T (p.Arg492Trp)	TXNRD2 (R396W +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 1773363	NM_006440.5(TXNRD2):c.1471A>G (p.Met491Val)	TXNRD2 (M395V +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1055823	NM_006440.5(TXNRD2):c.1463C>T (p.Ala488Val)	TXNRD2 (A392V +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 454281	NM_006440.5(TXNRD2):c.1461T>C (p.Tyr487=)	TXNRD2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1423755	NM_006440.5(TXNRD2):c.1460A>G (p.Tyr487Cys)	TXNRD2 (Y457C +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 938494	NM_006440.5(TXNRD2):c.1451G>A (p.Gly484Glu)	TXNRD2 (G388E +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1662902	NM_006440.5(TXNRD2):c.1449T>C (p.Cys483=)	TXNRD2	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1407066	NM_006440.5(TXNRD2):c.1446G>T (p.Lys482Asn)	TXNRD2 (K481N +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2564291	NM_006440.5(TXNRD2):c.1445+5G>C	TXNRD2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 454280	NM_006440.5(TXNRD2):c.1436T>C (p.Leu479Pro)	TXNRD2 (L479P +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1772517	NM_006440.5(TXNRD2):c.1431T>A (p.Phe477Leu)	TXNRD2 (F476L +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2143023	NM_006440.5(TXNRD2):c.1420A>G (p.Thr474Ala)	TXNRD2 (T378A +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 641801	NM_006440.5(TXNRD2):c.1414G>A (p.Glu472Lys)	TXNRD2 (E376K +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1519441	NM_006440.5(TXNRD2):c.1413C>T (p.Gly471=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 581928	NM_006440.5(TXNRD2):c.1412G>A (p.Gly471Asp)	TXNRD2 (G471D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1771956	NM_006440.5(TXNRD2):c.1408G>A (p.Ala470Thr)	TXNRD2 (A440T +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1127150	NM_006440.5(TXNRD2):c.1407C>T (p.Asn469=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GConflicting classifications of pathogenicity
Select item 451313	NM_006440.5(TXNRD2):c.1407C>A (p.Asn469Lys)	TXNRD2 (N469K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GLikely benign
Select item 519006	NM_006440.5(TXNRD2):c.1406A>G (p.Asn469Ser)	TXNRD2 (N469S +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 263650	NM_006440.5(TXNRD2):c.1401C>T (p.Gly467=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1771434	NM_006440.5(TXNRD2):c.1387C>T (p.Leu463=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 846879	NM_006440.5(TXNRD2):c.1376T>C (p.Leu459Pro)	TXNRD2 (L429P +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1034740	NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs)	TXNRD2 (Q362fs +3 more)	Duplication (frameshift variant +1 more)	Primary dilated cardiomyopathy +3 more	GUncertain significance
Select item 1199047	NM_006440.5(TXNRD2):c.1368C>T (p.Pro456=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1770599	NM_006440.5(TXNRD2):c.1350G>T (p.Met450Ile)	TXNRD2 (M354I +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1017858	NM_006440.5(TXNRD2):c.1348-2A>G	TXNRD2	Single nucleotide variant (splice acceptor variant)	Glucocorticoid deficiency 5 +2 more	GUncertain significance
Select item 264269	NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter)	TXNRD2 (Y447* +3 more)	Single nucleotide variant (nonsense +1 more)	Glucocorticoid deficiency 5 +3 more	GConflicting classifications of pathogenicity
Select item 222886	NM_006440.5(TXNRD2):c.1331C>G (p.Ser444Cys)	TXNRD2 (S444C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 222885	NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln)	TXNRD2 (R441Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3330409	NM_006440.5(TXNRD2):c.1319G>A (p.Gly440Glu)	TXNRD2 (G410E +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1769675	NM_006440.5(TXNRD2):c.1311G>A (p.Thr437=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 386526	NM_006440.5(TXNRD2):c.1308C>T (p.Phe436=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 1628635	NM_006440.5(TXNRD2):c.1305G>A (p.Glu435=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 3225589	NM_006440.5(TXNRD2):c.1293T>C (p.Tyr431=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 518988	NM_006440.5(TXNRD2):c.1289A>C (p.His430Pro)	TXNRD2 (H430P +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 849540	NM_006440.5(TXNRD2):c.1285G>A (p.Ala429Thr)	TXNRD2 (A428T +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2141305	NM_006440.5(TXNRD2):c.1284C>T (p.His428=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 3330403	NM_006440.5(TXNRD2):c.1278C>G (p.Val426=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3330410	NM_006440.5(TXNRD2):c.1276G>T (p.Val426Phe)	TXNRD2 (V330F +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3225588	NM_006440.5(TXNRD2):c.1276-3C>T	TXNRD2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1763387	NM_006440.5(TXNRD2):c.1262A>G (p.Gln421Arg)	TXNRD2 (Q420R +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1762359	NM_006440.5(TXNRD2):c.1258G>A (p.Gly420Arg)	TXNRD2 (G324R +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1762053	NM_006440.5(TXNRD2):c.1257C>T (p.His419=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 1761827	NM_006440.5(TXNRD2):c.1256A>C (p.His419Pro)	TXNRD2 (H418P +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1432777	NM_006440.5(TXNRD2):c.1253G>A (p.Arg418His)	TXNRD2 (R418H +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2626147	NM_006440.5(TXNRD2):c.1250C>T (p.Ala417Val)	TXNRD2 (A321V +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 524925	NM_006440.5(TXNRD2):c.1234G>A (p.Glu412Lys)	TXNRD2 (E412K +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 240654	NM_006440.5(TXNRD2):c.1233C>T (p.Ser411=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 1174698	NM_006440.5(TXNRD2):c.1224G>C (p.Val408=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 263385	NM_006440.5(TXNRD2):c.1206G>A (p.Pro402=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign
Select item 1748608	NM_006440.5(TXNRD2):c.1205C>T (p.Pro402Leu)	TXNRD2 (P401L +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1747375	NM_006440.5(TXNRD2):c.1200C>T (p.Phe400=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 519102	NM_006440.5(TXNRD2):c.1195G>A (p.Val399Ile)	TXNRD2 (V399I +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1567847	NM_006440.5(TXNRD2):c.1191G>A (p.Thr397=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1742676	NM_006440.5(TXNRD2):c.1183-5T>C	TXNRD2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 3225587	NM_006440.5(TXNRD2):c.1182+5G>A	TXNRD2	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1742079	NM_006440.5(TXNRD2):c.1180A>G (p.Asn394Asp)	TXNRD2 (N393D +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 512478	NM_006440.5(TXNRD2):c.1177G>A (p.Asp393Asn)	TXNRD2 (D393N +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 389670	NM_006440.5(TXNRD2):c.1176C>T (p.Tyr392=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 263636	NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His)	TXNRD2 (Y392H +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +2 more	GConflicting classifications of pathogenicity
Select item 1509038	NM_006440.5(TXNRD2):c.1169T>G (p.Met390Arg)	TXNRD2 (M389R +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 1736767	NM_006440.5(TXNRD2):c.1161A>G (p.Ser387=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 771299	NM_006440.5(TXNRD2):c.1158C>T (p.Ser386=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GBenign/Likely benign
Select item 840840	NM_006440.5(TXNRD2):c.1157C>A (p.Ser386Tyr)	TXNRD2 (S386Y +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 508880	NM_006440.5(TXNRD2):c.1155G>C (p.Gly385=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GLikely benign
Select item 954346	NM_006440.5(TXNRD2):c.1153G>A (p.Gly385Arg)	TXNRD2 (G384R +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 856216	NM_006440.5(TXNRD2):c.1152C>T (p.Gly384=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 838125	NM_006440.5(TXNRD2):c.1150G>C (p.Gly384Arg)	TXNRD2 (G288R +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 263784	NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser)	TXNRD2 (G384S +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +3 more	GBenign/Likely benign
Select item 524927	NM_006440.5(TXNRD2):c.1149C>T (p.Phe383=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 524919	NM_006440.5(TXNRD2):c.1142G>A (p.Arg381Gln)	TXNRD2 (R381Q +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 509261	NM_006440.5(TXNRD2):c.1137G>C (p.Val379=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 1083781	NM_006440.5(TXNRD2):c.1131C>T (p.Leu377=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +1 more	GLikely benign
Select item 840839	NM_006440.5(TXNRD2):c.1126A>G (p.Arg376Gly)	TXNRD2 (R346G +3 more)	Single nucleotide variant (missense variant +1 more)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 2449547	NM_006440.5(TXNRD2):c.1125G>T (p.Gly375=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1798736	NM_006440.5(TXNRD2):c.1124G>T (p.Gly375Val)	TXNRD2 (G374V +3 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1798126	NM_006440.5(TXNRD2):c.1122C>G (p.Ala374=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 510408	NM_006440.5(TXNRD2):c.1122C>T (p.Ala374=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 1083808	NM_006440.5(TXNRD2):c.1113G>A (p.Ala371=)	TXNRD2	Single nucleotide variant (synonymous variant +1 more)	Primary dilated cardiomyopathy +2 more	GLikely benign

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