"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CBS"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 212869	NM_000071.3(CBS):c.1643G>A (p.Arg548Gln)	CBS (R548Q +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GBenign/Likely benign
Select item 212836	NM_000071.3(CBS):c.1632C>T (p.Ala544=)	CBS	Single nucleotide variant (synonymous variant)	Classic homocystinuria +4 more	GBenign/Likely benign
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 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 1301394	NM_000071.3(CBS):c.1499C>T (p.Ser500Leu)	CBS (S395L +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +2 more	GUncertain significance
Select item 405370	NM_000071.3(CBS):c.1484C>T (p.Thr495Met)	CBS (T495M +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GUncertain significance
Select item 263326	NM_000071.3(CBS):c.1472G>A (p.Arg491His)	CBS (R491H +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 212882	NM_000071.3(CBS):c.1411G>A (p.Gly471Arg)	CBS (G471R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 130	NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	CBS (S466L +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 212868	NM_000071.3(CBS):c.1353G>C (p.Glu451Asp)	CBS (E451D +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GUncertain significance
Select item 126	NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	CBS (D444N +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 646873	NM_000071.3(CBS):c.1315C>T (p.Arg439Trp)	CBS (R439W +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +2 more	GUncertain significance
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 471354	NM_000071.3(CBS):c.1146-7C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely benign
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 538694	NM_000071.3(CBS):c.1080_1081delinsTA (p.Ala361Thr)	CBS (A361T +1 more)	Indel (missense variant)	Classic homocystinuria	GUncertain significance
Select item 136673	NM_000071.3(CBS):c.1039+19C>T	CBS	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
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 212859	NM_000071.3(CBS):c.1009A>G (p.Met337Val)	CBS (M337V +1 more)	Single nucleotide variant (missense variant)	not provided +3 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 117	NM_000071.3(CBS):c.919G>A (p.Gly307Ser)	CBS (G307S +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GPathogenic
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 212855	NM_000071.3(CBS):c.856A>G (p.Ile286Val)	CBS (I286V +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
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 555482	NM_000071.3(CBS):c.752T>C (p.Leu251Pro)	CBS (L251P +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GConflicting classifications of pathogenicity
Select item 1310379	NM_000071.3(CBS):c.676G>C (p.Ala226Pro)	CBS (A121P +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GUncertain significance
Select item 1035460	NM_000071.3(CBS):c.671G>T (p.Arg224Leu)	CBS (R119L +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GUncertain significance
Select item 188911	NM_000071.3(CBS):c.667-14_667-7del	CBS	Deletion (intron variant)	Homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 405375	NM_000071.3(CBS):c.622T>C (p.Trp208Arg)	CBS (W208R +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GUncertain significance
Select item 212848	NM_000071.3(CBS):c.610G>A (p.Val204Met)	CBS (V204M +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +3 more	GUncertain significance
Select item 642590	NM_000071.3(CBS):c.599C>T (p.Pro200Leu)	CBS (P95L +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +2 more	GUncertain significance
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 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 208177	NM_000071.3(CBS):c.362G>T (p.Arg121Leu)	CBS (R121L +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GPathogenic/Likely pathogenic
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 675794	NM_000071.3(CBS):c.316+130G>A	CBS	Single nucleotide variant (5 prime UTR variant +1 more)	Classic homocystinuria +1 more	GBenign
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 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 371345	NM_000071.3(CBS):c.19dup (p.Gln7fs)	CBS (Q7fs)	Duplication (frameshift variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GPathogenic

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Items: 42