"Illumina Laboratory Services, Illumina"[submitter] AND "CBS"[gene] - ClinVar

Search results

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 895620	NM_000071.3(CBS):c.*681A>G	CBS	Single nucleotide variant (3 prime UTR variant)	not provided +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)	Classic homocystinuria +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 235768	NM_000071.3(CBS):c.*540G>A	CBS	Single nucleotide variant (3 prime UTR variant)	Classic homocystinuria +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)	not provided +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	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 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 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 specified +1 more	GBenign
Select item 212869	NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)	CBS (R548Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 510461	NM_000071.3(CBS):c.1494G>A (p.Arg498=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GLikely benign
Select item 212834	NM_000071.3(CBS):c.1479G>A (p.Thr493=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GConflicting classifications of pathogenicity
Select item 340080	NM_000071.3(CBS):c.1453A>G (p.Lys485Glu)	CBS (K485E +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	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 567926	NM_000071.3(CBS):c.1379C>T (p.Thr460Met)	CBS (T460M +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 212832	NM_000071.3(CBS):c.1359-14C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GBenign/Likely benign
Select item 254878	NM_000071.3(CBS):c.1358+15C>G	CBS	Single nucleotide variant (intron variant)	Classic homocystinuria +3 more	GBenign/Likely benign
Select item 340081	NM_000071.3(CBS):c.1357G>T (p.Gly453Trp)	CBS (G453W +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GUncertain significance
Select item 126	NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	CBS (D444N +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GPathogenic/Likely pathogenic
Select item 129	NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)	CBS (P422L +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GUncertain significance
Select item 639664	NM_000071.3(CBS):c.1237C>T (p.Arg413Cys)	CBS (R308C +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +1 more	GUncertain significance
Select item 128	NM_000071.3(CBS):c.1224-2A>C	CBS	Single nucleotide variant (splice acceptor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +5 more	GPathogenic
Select item 471355	NM_000071.3(CBS):c.1205T>C (p.Leu402Pro)	CBS (L402P +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +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 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 897096	NM_000071.3(CBS):c.1146-6C>T	CBS	Single nucleotide variant (intron variant)	Classic homocystinuria +1 more	GConflicting classifications of pathogenicity
Select item 340083	NM_000071.3(CBS):c.1146-12C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GConflicting classifications of pathogenicity
Select item 136674	NM_000071.3(CBS):c.1145+7C>T	CBS	Single nucleotide variant (intron variant)	Classic homocystinuria +3 more	GBenign/Likely benign
Select item 212860	NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)	CBS (R369C +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 92424	NM_000071.3(CBS):c.1080C>T (p.Ala360=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +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 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 specified +5 more	GConflicting classifications of pathogenicity
Select item 897571	NM_000071.3(CBS):c.1017C>T (p.Ile339=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GConflicting classifications of pathogenicity
Select item 136672	NM_000071.3(CBS):c.954+8G>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GConflicting classifications of pathogenicity
Select item 212824	NM_000071.3(CBS):c.939G>A (p.Thr313=)	CBS	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 340084	NM_000071.3(CBS):c.924C>T (p.Tyr308=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GConflicting classifications of pathogenicity
Select item 117	NM_000071.3(CBS):c.919G>A (p.Gly307Ser)	CBS (G307S +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +5 more	GPathogenic
Select item 236939	NM_000071.3(CBS):c.894G>A (p.Gln298=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GConflicting classifications of pathogenicity
Select item 340085	NM_000071.3(CBS):c.888G>A (p.Thr296=)	CBS	Single nucleotide variant (synonymous variant)	Classic homocystinuria +1 more	GConflicting classifications of pathogenicity
Select item 897572	NM_000071.3(CBS):c.887C>G (p.Thr296Arg)	CBS (T191R +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 212855	NM_000071.3(CBS):c.856A>G (p.Ile286Val)	CBS (I286V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 120	NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	CBS (I278T +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +6 more	GPathogenic
Select item 136671	NM_000071.3(CBS):c.829-12C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GBenign
Select item 136670	NM_000071.3(CBS):c.829-13G>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GConflicting classifications of pathogenicity
Select item 264505	NM_000071.3(CBS):c.786G>A (p.Thr262=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GConflicting classifications of pathogenicity
Select item 92426	NM_000071.3(CBS):c.699C>T (p.Tyr233=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +5 more	GBenign
Select item 632066	NM_000071.3(CBS):c.664C>T (p.Gln222Ter)	CBS (Q222* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria	GUncertain significance
Select item 136668	NM_000071.3(CBS):c.636C>T (p.Asn212=)	CBS	Single nucleotide variant (synonymous variant)	Classic homocystinuria +6 more	GBenign
Select item 340086	NM_000071.3(CBS):c.612G>T (p.Val204=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GConflicting classifications of pathogenicity
Select item 340087	NM_000071.3(CBS):c.600G>A (p.Pro200=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GConflicting classifications of pathogenicity
Select item 136667	NM_000071.3(CBS):c.573G>A (p.Thr191=)	CBS	Single nucleotide variant (synonymous variant)	Classic homocystinuria +5 more	GBenign/Likely benign
Select item 340088	NM_000071.3(CBS):c.532G>A (p.Val178Met)	CBS (V178M +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GUncertain significance
Select item 136666	NM_000071.3(CBS):c.531+11G>A	CBS	Single nucleotide variant (intron variant)	Classic homocystinuria +4 more	GBenign/Likely benign
Select item 127	NM_000071.3(CBS):c.502G>A (p.Val168Met)	CBS (V168M +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GConflicting classifications of pathogenicity
Select item 212843	NM_000071.3(CBS):c.394C>T (p.Arg132Cys)	CBS (R132C +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GConflicting classifications of pathogenicity
Select item 340089	NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	CBS (R125W +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 212842	NM_000071.3(CBS):c.361C>T (p.Arg121Cys)	CBS (R121C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 340090	NM_000071.3(CBS):c.352G>A (p.Val118Met)	CBS (V118M +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GUncertain significance
Select item 895757	NM_000071.3(CBS):c.349A>T (p.Ser117Cys)	CBS (S12C +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GUncertain significance
Select item 136677	NM_000071.3(CBS):c.304A>C (p.Lys102Gln)	CBS (K102Q)	Single nucleotide variant (missense variant)	Classic homocystinuria +5 more	GBenign/Likely benign
Select item 340091	NM_000071.3(CBS):c.301C>G (p.Leu101Val)	CBS (L101V)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GConflicting classifications of pathogenicity
Select item 212883	NM_000071.3(CBS):c.215A>T (p.Lys72Ile)	CBS (K72I)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +6 more	GConflicting classifications of pathogenicity
Select item 212873	NM_000071.3(CBS):c.162G>A (p.Trp54Ter)	CBS (W54*)	Single nucleotide variant (nonsense)	Homocystinuria +2 more	GConflicting classifications of pathogenicity
Select item 263858	NM_000071.3(CBS):c.52C>T (p.Arg18Cys)	CBS (R18C)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 340092	NM_000071.3(CBS):c.-50dup	CBS	Duplication (5 prime UTR variant)	Homocystinuria	GUncertain significance
Select item 896043	NM_000071.3(CBS):c.-81C>T	CBS	Single nucleotide variant (5 prime UTR variant)	Classic homocystinuria	GUncertain significance
Select item 632381	NM_000071.3(CBS):c.-86_-85+13delinsTGAAGGGTACCGCGA	CBS	Indel (intron variant +1 more)	Classic homocystinuria	GUncertain significance
Select item 340093	NM_000071.3(CBS):c.-85+10G>C	CBS	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 340094	NM_000071.3(CBS):c.-136C>T	CBS	Single nucleotide variant (5 prime UTR variant +1 more)	Classic homocystinuria	GUncertain significance
Select item 340095	NM_000071.2(CBS):c.-160C>T	CBS	Single nucleotide variant (intron variant)	Classic homocystinuria	GLikely benign
Select item 896044	NM_000071.2(CBS):c.-242T>C	CBS	Single nucleotide variant (intron variant)	Classic homocystinuria	GUncertain significance

ClinVar

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Items: 88