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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558255	NM_000071.3(CBS):c.1656A>C (p.Ter552Cys)	CBS	Single nucleotide variant (stop lost)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 2181784	NM_000071.3(CBS):c.1654T>G (p.Ter552Gly)	CBS	Single nucleotide variant (stop lost)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 3230225	NM_000071.3(CBS):c.1645G>C (p.Asp549His)	CBS (D444H +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 263392	NM_000071.3(CBS):c.1644G>C (p.Arg548=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 212869	NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)	CBS (R548Q +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GBenign/Likely benign
Select item 1187669	NM_000071.3(CBS):c.1642C>T (p.Arg548Trp)	CBS (R443W +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 1920786	NM_000071.3(CBS):c.1633G>A (p.Ala545Thr)	CBS (A545T +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 212836	NM_000071.3(CBS):c.1632C>T (p.Ala544=)	CBS	Single nucleotide variant (synonymous variant)	Classic homocystinuria +4 more	GBenign/Likely benign
Select item 380761	NM_000071.3(CBS):c.1626C>T (p.Phe542=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GLikely benign
Select item 2531511	NM_000071.3(CBS):c.1606G>A (p.Ala536Thr)	CBS (A431T +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 511711	NM_000071.3(CBS):c.1605C>T (p.Thr535=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GLikely benign
Select item 1776063	NM_000071.3(CBS):c.1599G>A (p.Val533=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3263660	NM_000071.3(CBS):c.1594G>T (p.Gly532Trp)	CBS (G532W +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 501401	NM_000071.3(CBS):c.1594G>A (p.Gly532Arg)	CBS (G532R +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GUncertain significance
Select item 413354	NM_000071.3(CBS):c.1593C>T (p.Phe531=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 1551764	NM_000071.3(CBS):c.1584G>A (p.Gln528=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
Select item 413352	NM_000071.3(CBS):c.1575T>C (p.Ser525=)	CBS	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 661619	NM_000071.3(CBS):c.1564G>A (p.Gly522Arg)	CBS (G417R +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GUncertain significance
Select item 263389	NM_000071.3(CBS):c.1563C>T (p.Thr521=)	CBS	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1775093	NM_000071.3(CBS):c.1553-5C>G	CBS	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GConflicting classifications of pathogenicity
Select item 212835	NM_000071.3(CBS):c.1539C>T (p.His513=)	CBS	Single nucleotide variant (synonymous variant)	Connective tissue disorder +4 more	GConflicting classifications of pathogenicity
Select item 405371	NM_000071.3(CBS):c.1525G>A (p.Ala509Thr)	CBS (A509T +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GUncertain significance
Select item 263560	NM_000071.3(CBS):c.1524C>T (p.Phe508=)	CBS	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1774323	NM_000071.3(CBS):c.1516G>A (p.Asp506Asn)	CBS (D401N +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 724939	NM_000071.3(CBS):c.1512G>A (p.Glu504=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
Select item 387779	NM_000071.3(CBS):c.1500G>A (p.Ser500=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GLikely benign
Select item 471360	NM_000071.3(CBS):c.1485G>A (p.Thr495=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
Select item 405370	NM_000071.3(CBS):c.1484C>T (p.Thr495Met)	CBS (T495M +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GUncertain significance
Select item 212834	NM_000071.3(CBS):c.1479G>A (p.Thr493=)	CBS	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 263326	NM_000071.3(CBS):c.1472G>A (p.Arg491His)	CBS (R491H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1773281	NM_000071.3(CBS):c.1467G>A (p.Gln489=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 742621	NM_000071.3(CBS):c.1464A>G (p.Lys488=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
Select item 3263662	NM_000071.3(CBS):c.1444G>T (p.Val482Phe)	CBS (V377F +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 2566666	NM_000071.3(CBS):c.1438G>A (p.Gly480Ser)	CBS (G480S +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 263813	NM_000071.3(CBS):c.1436T>C (p.Val479Ala)	CBS (V479A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3230224	NM_000071.3(CBS):c.1434A>C (p.Gln478His)	CBS (Q373H +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 519584	NM_000071.3(CBS):c.1431C>A (p.Asp477Glu)	CBS (D477E +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 413353	NM_000071.3(CBS):c.1425G>A (p.Pro475=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GConflicting classifications of pathogenicity
Select item 1772331	NM_000071.3(CBS):c.1424C>T (p.Pro475Leu)	CBS (P370L +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1772141	NM_000071.3(CBS):c.1416G>A (p.Lys472=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 519587	NM_000071.3(CBS):c.1413G>C (p.Gly471=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GLikely benign
Select item 1771790	NM_000071.3(CBS):c.1400C>T (p.Ser467Phe)	CBS (S362F +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 130	NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	CBS (S466L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 506415	NM_000071.3(CBS):c.1380G>A (p.Thr460=)	CBS	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 567926	NM_000071.3(CBS):c.1379C>T (p.Thr460Met)	CBS (T460M +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +2 more	GUncertain significance
Select item 2447113	NM_000071.3(CBS):c.1377G>C (p.Val459=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1771101	NM_000071.3(CBS):c.1373T>C (p.Met458Thr)	CBS (M353T +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1144587	NM_000071.3(CBS):c.1368G>A (p.Leu456=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
Select item 264408	NM_000071.3(CBS):c.1358G>A (p.Gly453Glu)	CBS (G453E +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +2 more	GUncertain significance
Select item 731006	NM_000071.3(CBS):c.1356G>A (p.Ala452=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 426115	NM_000071.3(CBS):c.1342G>A (p.Val448Met)	CBS (V448M +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 471358	NM_000071.3(CBS):c.1341C>T (p.Pro447=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GLikely benign
Select item 413350	NM_000071.3(CBS):c.1338G>A (p.Ala446=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 413355	NM_000071.3(CBS):c.1332C>T (p.Asp444=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
Select item 126	NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	CBS (D444N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1141563	NM_000071.3(CBS):c.1329C>T (p.Phe443=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
Select item 765576	NM_000071.3(CBS):c.1326C>G (p.Gly442=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 840486	NM_000071.3(CBS):c.1325G>A (p.Gly442Asp)	CBS (G337D +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 189088	NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)	CBS (R439Q +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 471357	NM_000071.3(CBS):c.1287C>T (p.Ile429=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
Select item 1767072	NM_000071.3(CBS):c.1278C>T (p.Leu426=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 212866	NM_000071.3(CBS):c.1273G>A (p.Val425Met)	CBS (V425M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1547507	NM_000071.3(CBS):c.1272C>G (p.Thr424=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
Select item 236934	NM_000071.3(CBS):c.1272C>T (p.Thr424=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 212829	NM_000071.3(CBS):c.1266G>A (p.Pro422=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GBenign/Likely benign
Select item 129	NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)	CBS (P422L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 264043	NM_000071.3(CBS):c.1262C>A (p.Ala421Asp)	CBS (A421D +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 194318	NM_000071.3(CBS):c.1257G>A (p.Leu419=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 703955	NM_000071.3(CBS):c.1251G>A (p.Leu417=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GLikely benign
Select item 128	NM_000071.3(CBS):c.1224-2A>C	CBS	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic
Select item 509146	NM_000071.3(CBS):c.1224-5C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GConflicting classifications of pathogenicity
Select item 1751621	NM_000071.3(CBS):c.1216A>C (p.Lys406Gln)	CBS (K301Q +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 471356	NM_000071.3(CBS):c.1209G>A (p.Thr403=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
Select item 471355	NM_000071.3(CBS):c.1205T>C (p.Leu402Pro)	CBS (L402P +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GUncertain significance
Select item 340082	NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del)	CBS (E400del +1 more)	Microsatellite (inframe_deletion)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 1740322	NM_000071.3(CBS):c.1174C>T (p.Leu392=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
Select item 500050	NM_000071.3(CBS):c.1166G>C (p.Arg389Thr)	CBS (R389T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 760259	NM_000071.3(CBS):c.1165A>C (p.Arg389=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 263900	NM_000071.3(CBS):c.1161C>T (p.Ser387=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GConflicting classifications of pathogenicity
Select item 1652461	NM_000071.3(CBS):c.1155C>T (p.Phe385=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 1586753	NM_000071.3(CBS):c.1149C>T (p.Thr383=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
Select item 391444	NM_000071.3(CBS):c.1125C>T (p.Pro375=)	CBS	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1797146	NM_000071.3(CBS):c.1119T>G (p.Ile373Met)	CBS (I373M +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 212862	NM_000071.3(CBS):c.1111G>A (p.Val371Met)	CBS (V371M +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GPathogenic/Likely pathogenic
Select item 519589	NM_000071.3(CBS):c.1110C>T (p.Cys370=)	CBS	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 212860	NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)	CBS (R369C +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GConflicting classifications of pathogenicity
Select item 1691166	NM_000071.3(CBS):c.1083G>A (p.Ala361=)	CBS	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1684071	NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)	CBS (A256T +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +3 more	GConflicting classifications of pathogenicity
Select item 92424	NM_000071.3(CBS):c.1080C>T (p.Ala360=)	CBS	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 193971	NM_000071.3(CBS):c.1072G>A (p.Val358Met)	CBS (V358M +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 1632666	NM_000071.3(CBS):c.1071C>G (p.Ala357=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 989624	NM_000071.3(CBS):c.1071C>T (p.Ala357=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GLikely benign
Select item 3263665	NM_000071.3(CBS):c.1068G>A (p.Val356=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 519591	NM_000071.3(CBS):c.1067T>C (p.Val356Ala)	CBS (V356A +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 538702	NM_000071.3(CBS):c.1065G>A (p.Ala355=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 212827	NM_000071.3(CBS):c.1059G>A (p.Thr353=)	CBS	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 131	NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	CBS (T353M +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GPathogenic/Likely pathogenic
Select item 136673	NM_000071.3(CBS):c.1039+19C>T	CBS	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 385169	NM_000071.3(CBS):c.1039+3G>A	CBS	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 188801	NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	CBS (G347S +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GPathogenic/Likely pathogenic

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