CBS[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1326702	NC_000021.9:g.43053130C>T	CBS	Single nucleotide variant	not provided	GLikely benign
Select item 1229670	NC_000021.9:g.43053136C>G	CBS	Single nucleotide variant	not provided	GBenign
Select item 895620	NM_000071.3(CBS):c.*681A>G	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria +1 more	GBenign/Likely benign
Select item 340070	NM_000071.3(CBS):c.*592T>A	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria	GUncertain significance
Select item 340071	NM_000071.3(CBS):c.*566G>A	CBS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 340072	NM_000071.3(CBS):c.*565C>T	CBS	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 340073	NM_000071.3(CBS):c.*544T>C	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria +1 more	GBenign
Select item 663949	NC_000021.8:g.(?_44473450)_(44492323_?)dup	CBS	Duplication	Classic homocystinuria	GUncertain significance
Select item 538706	NC_000021.9:g.(?_43053340)_(43056907_?)del	CBS	Deletion	Classic homocystinuria +1 more	GUncertain significance
Select item 235768	NM_000071.3(CBS):c.*540G>A	CBS	Single nucleotide variant (3 prime UTR variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GConflicting classifications of pathogenicity
Select item 340074	NM_000071.3(CBS):c.*472C>T	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria	GUncertain significance
Select item 897029	NM_000071.3(CBS):c.*409G>A	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria	GUncertain significance
Select item 897028	NM_000071.3(CBS):c.*409G>T	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria	GUncertain significance
Select item 897030	NM_000071.3(CBS):c.*394C>T	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria	GUncertain significance
Select item 340075	NM_000071.3(CBS):c.*383C>T	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria +1 more	GBenign/Likely benign
Select item 897504	NM_000071.3(CBS):c.*305T>C	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria	GUncertain significance
Select item 340076	NM_000071.3(CBS):c.*299G>A	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria +1 more	GBenign
Select item 897505	NM_000071.3(CBS):c.*296T>C	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria	GUncertain significance
Select item 897506	NM_000071.3(CBS):c.*286A>G	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria	GUncertain significance
Select item 897507	NM_000071.3(CBS):c.*140G>A	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	Classic homocystinuria	GUncertain significance
Select item 897508	NM_000071.3(CBS):c.*132G>C	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	Classic homocystinuria	GUncertain significance
Select item 212838	NM_000071.3(CBS):c.*123C>G	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	Classic homocystinuria +1 more	GBenign
Select item 340077	NM_000071.3(CBS):c.*98CTGGC[1]	CBS	Microsatellite (3 prime UTR variant +1 more)	Homocystinuria	GBenign
Select item 340078	NM_000071.3(CBS):c.*81G>A	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 898664	NM_000071.3(CBS):c.*80C>T	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	Classic homocystinuria	GUncertain significance
Select item 340079	NM_000071.3(CBS):c.55_57del	CBS	Deletion (3 prime UTR variant +1 more)	Homocystinuria	GUncertain significance
Select item 1301253	NM_000071.3(CBS):c.53_55del	CBS	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 377631	NM_000071.3(CBS):c.*34G>A	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	Classic homocystinuria +1 more	GBenign/Likely benign
Select item 392677	NM_000071.3(CBS):c.*28G>A	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 212837	NM_000071.3(CBS):c.*27C>T	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GBenign
Select item 421937	NM_000071.3(CBS):c.*22C>T	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 583542	NC_000021.8:g.(?_44473970)_(44492323_?)dup	CBS	Duplication	Classic homocystinuria +1 more	GUncertain significance
Select item 552526	NM_000071.3(CBS):c.*20T>C	CBS	Single nucleotide variant (splice donor variant +1 more)	Classic homocystinuria	GUncertain significance
Select item 553610	NM_000071.3(CBS):c.*19G>C	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	Classic homocystinuria	GUncertain significance
Select item 553011	NM_000071.3(CBS):c.*19G>A	CBS	Single nucleotide variant (3 prime UTR variant +1 more)	Classic homocystinuria	GUncertain significance
Select item 136676	NM_000071.3(CBS):c.*18G>A	CBS	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 194692	NM_000071.3(CBS):c.*10C>A	CBS	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign
Select item 3042340	NM_000071.3(CBS):c.*6G>A	CBS	Single nucleotide variant (3 prime UTR variant)	CBS-related disorder	GLikely benign
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 1142454	NM_000071.3(CBS):c.1653G>A (p.Lys551=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 1900100	NM_000071.3(CBS):c.1650G>A (p.Gln550=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 1919126	NM_000071.3(CBS):c.1648C>A (p.Gln550Lys)	CBS (Q550K +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GUncertain significance
Select item 1082844	NM_000071.3(CBS):c.1647C>T (p.Asp549=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
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 960103	NM_000071.3(CBS):c.1645G>A (p.Asp549Asn)	CBS (D444N +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GUncertain significance
Select item 263392	NM_000071.3(CBS):c.1644G>C (p.Arg548=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +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)	not specified +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 1118931	NM_000071.3(CBS):c.1641G>A (p.Glu547=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 1094523	NM_000071.3(CBS):c.1638G>A (p.Gln546=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 847021	NM_000071.3(CBS):c.1634C>T (p.Ala545Val)	CBS (A440V +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	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)	not provided +4 more	GBenign/Likely benign
Select item 380761	NM_000071.3(CBS):c.1626C>T (p.Phe542=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 124	NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)	CBS (L539S +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely pathogenic
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)	not provided +2 more	GLikely benign
Select item 551171	NM_000071.3(CBS):c.1603_1604del (p.Thr535fs)	CBS (T535fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria	GLikely pathogenic
Select item 2022705	NM_000071.3(CBS):c.1602C>T (p.Val534=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 1013466	NM_000071.3(CBS):c.1600G>A (p.Val534Ile)	CBS (V429I +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GUncertain significance
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 580404	NM_000071.3(CBS):c.1597G>T (p.Val533Leu)	CBS (V533L +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GUncertain significance
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 2860801	NM_000071.3(CBS):c.1582C>T (p.Gln528Ter)	CBS (Q423* +1 more)	Single nucleotide variant (nonsense)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1114616	NM_000071.3(CBS):c.1581G>T (p.Arg527=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 955762	NM_000071.3(CBS):c.1580G>A (p.Arg527Gln)	CBS (R422Q +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GUncertain significance
Select item 1214910	NM_000071.3(CBS):c.1579C>T (p.Arg527Trp)	CBS (R422W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1088970	NM_000071.3(CBS):c.1579C>A (p.Arg527=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 861524	NM_000071.3(CBS):c.1576C>A (p.Gln526Lys)	CBS (Q526K +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GUncertain significance
Select item 556910	NM_000071.3(CBS):c.1576C>T (p.Gln526Ter)	CBS (Q526* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria +1 more	GPathogenic/Likely pathogenic
Select item 413352	NM_000071.3(CBS):c.1575T>C (p.Ser525=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 2817093	NM_000071.3(CBS):c.1572C>G (p.Ser524=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2114279	NM_000071.3(CBS):c.1566G>A (p.Gly522=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 188784	NM_000071.3(CBS):c.1566del (p.Lys523fs)	CBS (K523fs +1 more)	Deletion (frameshift variant)	Homocystinuria +2 more	GPathogenic/Likely pathogenic
Select item 661619	NM_000071.3(CBS):c.1564G>A (p.Gly522Arg)	CBS (G417R +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GUncertain significance
Select item 263389	NM_000071.3(CBS):c.1563C>T (p.Thr521=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely benign
Select item 2839950	NM_000071.3(CBS):c.1561del (p.Thr521fs)	CBS (T416fs +1 more)	Deletion (frameshift variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 554133	NM_000071.3(CBS):c.1553-1G>C	CBS	Single nucleotide variant (splice acceptor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely pathogenic
Select item 556031	NM_000071.3(CBS):c.1553-2A>C	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria +1 more	GLikely pathogenic
Select item 2880171	NM_000071.3(CBS):c.1553-5C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	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 1095506	NM_000071.3(CBS):c.1553-6C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2039895	NM_000071.3(CBS):c.1553-9T>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2124436	NM_000071.3(CBS):c.1553-11T>C	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 1579528	NM_000071.3(CBS):c.1553-13G>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 511344	NM_000071.3(CBS):c.1553-13G>C	CBS	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2738376	NM_000071.3(CBS):c.1553-14C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 387032	NM_000071.3(CBS):c.1553-16C>T	CBS	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2894463	NM_000071.3(CBS):c.1553-18G>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2771382	NM_000071.3(CBS):c.1553-20C>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 674445	NM_000071.3(CBS):c.1553-48C>T	CBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200836	NM_000071.3(CBS):c.1553-101T>C	CBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203319	NM_000071.3(CBS):c.1553-157dup	CBS	Duplication (intron variant)	not provided	GLikely benign
Select item 1291462	NM_000071.3(CBS):c.1553-147del	CBS	Deletion (intron variant)	not provided	GBenign
Select item 1196876	NM_000071.3(CBS):c.1552+201G>A	CBS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672235	NM_000071.3(CBS):c.1552+154T>C	CBS	Single nucleotide variant (intron variant)	Classic homocystinuria +1 more	GBenign

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