"Clinical Genetics, Academic Medical Center"[submitter] AND "CBS"[gene - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 92424	NM_000071.3(CBS):c.1080C>T (p.Ala360=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GBenign
Select item 226482	NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA	CBS	Insertion	Classic homocystinuria +4 more	GBenign/Likely benign
Select item 120	NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	CBS (I278T +1 more)	Single nucleotide variant (missense variant)	See cases +6 more	GPathogenic
Select item 699450	NM_000071.3(CBS):c.737-10C>T	CBS	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 92426	NM_000071.3(CBS):c.699C>T (p.Tyr233=)	CBS	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 136667	NM_000071.3(CBS):c.573G>A (p.Thr191=)	CBS	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 136666	NM_000071.3(CBS):c.531+11G>A	CBS	Single nucleotide variant (intron variant)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GBenign/Likely benign
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