"Revvity Omics, Revvity"[submitter] AND "CBS"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2435631	NM_000071.3(CBS):c.1227_1240del (p.Trp409fs)	CBS (W304fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria	GPathogenic
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 650962	NM_000071.3(CBS):c.1223+1G>T	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria +1 more	GPathogenic
Select item 282049	NM_000071.3(CBS):c.1208C>T (p.Thr403Met)	CBS (T403M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 212881	NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)	CBS (R379W +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
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 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 212880	NM_000071.3(CBS):c.1070C>G (p.Ala357Gly)	CBS (A357G +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 92423	NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	CBS (R336C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 120	NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	CBS (I278T +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +7 more	GPathogenic
Select item 132	NM_000071.3(CBS):c.572C>T (p.Thr191Met)	CBS (T191M +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GPathogenic/Likely pathogenic
Select item 198388	NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)	CBS	Deletion (inframe_deletion)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 471364	NM_000071.3(CBS):c.404C>T (p.Thr135Met)	CBS (T135M +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GUncertain significance
Select item 212844	NM_000071.3(CBS):c.397G>A (p.Asp133Asn)	CBS (D133N +1 more)	Single nucleotide variant (missense variant)	Connective tissue disorder +4 more	GUncertain significance
Select item 197625	NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	CBS (R125Q +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GPathogenic
Select item 471361	NM_000071.3(CBS):c.284T>C (p.Ile95Thr)	CBS (I95T)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GConflicting classifications of pathogenicity
Select item 212874	NM_000071.3(CBS):c.253G>A (p.Gly85Arg)	CBS (G85R)	Single nucleotide variant (missense variant)	Classic homocystinuria +2 more	GPathogenic
Select item 632738	NM_000071.3(CBS):c.209+1G>A	CBS	Single nucleotide variant (splice donor variant)	CBS-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 370403	NM_000071.3(CBS):c.209+1G>C	CBS	Single nucleotide variant (splice donor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GPathogenic/Likely pathogenic
Select item 212872	NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	CBS (P49L)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GPathogenic/Likely pathogenic

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Items: 21