"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "CBS"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
Select item 471368	NM_000071.3(CBS):c.887C>T (p.Thr296Met)	CBS (T296M +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 560232	NM_000071.3(CBS):c.847G>A (p.Glu283Lys)	CBS (E283K +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GUncertain significance
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 656624	NM_000071.3(CBS):c.791T>C (p.Ile264Thr)	CBS (I264T +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GUncertain significance
Select item 198988	NM_000071.3(CBS):c.785C>T (p.Thr262Met)	CBS (T262M +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 212851	NM_000071.3(CBS):c.670C>T (p.Arg224Cys)	CBS (R224C +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GUncertain significance
Select item 809290	NM_000071.3(CBS):c.637G>A (p.Glu213Lys)	CBS (E213K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2683556	NM_000071.3(CBS):c.599C>G (p.Pro200Arg)	CBS (P200R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693768	NM_000071.3(CBS):c.474G>C (p.Ala158=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GConflicting classifications of pathogenicity
Select item 552801	NM_000071.3(CBS):c.451+1G>T	CBS	Single nucleotide variant (splice donor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GLikely 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 405373	NM_000071.3(CBS):c.395G>A (p.Arg132His)	CBS (R132H +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 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 119	NM_000071.3(CBS):c.341C>T (p.Ala114Val)	CBS (A114V +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +4 more	GPathogenic/Likely pathogenic
Select item 405376	NM_000071.3(CBS):c.296T>A (p.Phe99Tyr)	CBS (F99Y)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 519593	NM_000071.3(CBS):c.221C>T (p.Pro74Leu)	CBS (P74L)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
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
Select item 3380679	NM_000071.3(CBS):c.129G>T (p.Trp43Cys)	CBS (W43C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212870	NM_000071.3(CBS):c.65A>G (p.His22Arg)	CBS (H22R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance

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Items: 22