"Baylor Genetics"[submitter] AND "CBS"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 188784	NM_000071.3(CBS):c.1566del (p.Lys523fs)	CBS (K523fs +1 more)	Deletion (frameshift variant)	Homocystinuria +2 more	GPathogenic/Likely pathogenic
Select item 554559	NM_000071.3(CBS):c.1552+1G>A	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria	GLikely pathogenic
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 370957	NM_000071.3(CBS):c.1468-1G>A	CBS	Single nucleotide variant (splice acceptor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GLikely pathogenic
Select item 2680405	NM_000071.3(CBS):c.1456C>T (p.Gln486Ter)	CBS (Q381* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria	GLikely pathogenic
Select item 1073191	NM_000071.3(CBS):c.1397C>A (p.Ser466Ter)	CBS (S361* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria +1 more	GPathogenic
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 3241014	NM_000071.3(CBS):c.1391dup (p.Met464fs)	CBS (M359fs +1 more)	Duplication (frameshift variant)	Classic homocystinuria	GLikely pathogenic
Select item 858640	NM_000071.3(CBS):c.1367T>C (p.Leu456Pro)	CBS (L351P +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +1 more	GLikely pathogenic
Select item 2680407	NM_000071.3(CBS):c.1359-2A>T	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria	GLikely pathogenic
Select item 2680399	NM_000071.3(CBS):c.1358+2T>A	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria	GLikely pathogenic
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 370634	NM_000071.3(CBS):c.1321A>T (p.Lys441Ter)	CBS (K441* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria	GPathogenic/Likely pathogenic
Select item 2680413	NM_000071.3(CBS):c.1318G>T (p.Glu440Ter)	CBS (E335* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria	GLikely pathogenic
Select item 2630919	NM_000071.3(CBS):c.1306G>T (p.Glu436Ter)	CBS (E331* +1 more)	Single nucleotide variant (nonsense)	CBS-related disorder +1 more	GLikely pathogenic
Select item 212867	NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)	CBS (P427L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2680408	NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)	CBS (S315* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria	GLikely pathogenic
Select item 3241010	NM_000071.3(CBS):c.1229G>A (p.Trp410Ter)	CBS (W305* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria	GLikely pathogenic
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 194150	NM_000071.3(CBS):c.1218del (p.Lys406fs)	CBS (K406fs +1 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 813502	NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)	CBS (K279N +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +2 more	GPathogenic
Select item 2680416	NM_000071.3(CBS):c.1145+1G>A	CBS	Single nucleotide variant (splice donor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GPathogenic/Likely pathogenic
Select item 188825	NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)	CBS (R379Q +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +3 more	GPathogenic/Likely pathogenic
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 647345	NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)	CBS (D376N +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +2 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 420089	NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)	CBS (C370Y +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GPathogenic/Likely pathogenic
Select item 1684071	NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)	CBS (A256T +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +3 more	GConflicting classifications of pathogenicity
Select item 131	NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	CBS (T353M +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GPathogenic/Likely pathogenic
Select item 2680418	NM_000071.3(CBS):c.1040-2A>G	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria	GLikely pathogenic
Select item 2680402	NM_000071.3(CBS):c.1039+2T>C	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria	GLikely pathogenic
Select item 3241011	NM_000071.3(CBS):c.1039+1G>A	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria	GLikely pathogenic
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 371147	NM_000071.3(CBS):c.1007G>A (p.Arg336His)	CBS (R336H +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic/Likely pathogenic
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 212857	NM_000071.3(CBS):c.992C>A (p.Ala331Glu)	CBS (A331E +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 193793	NM_000071.3(CBS):c.992C>T (p.Ala331Val)	CBS (A331V +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +2 more	GLikely pathogenic
Select item 550653	NM_000071.3(CBS):c.982G>A (p.Asp328Asn)	CBS (D328N +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GConflicting classifications of pathogenicity
Select item 2680417	NM_000071.3(CBS):c.978del (p.Ser326fs)	CBS (S221fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria	GLikely pathogenic
Select item 212856	NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	CBS (W323* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 371028	NM_000071.3(CBS):c.959T>C (p.Val320Ala)	CBS (V320A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 371568	NM_000071.3(CBS):c.954+1G>A	CBS	Single nucleotide variant (splice donor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic/Likely pathogenic
Select item 2152692	NM_000071.3(CBS):c.949A>G (p.Arg317Gly)	CBS (R317G +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +1 more	GPathogenic/Likely pathogenic
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 2680401	NM_000071.3(CBS):c.913G>A (p.Gly305Arg)	CBS (G200R +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GPathogenic
Select item 496864	NM_000071.3(CBS):c.904G>A (p.Glu302Lys)	CBS (E302K +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +2 more	GPathogenic/Likely pathogenic
Select item 2680414	NM_000071.3(CBS):c.889G>T (p.Glu297Ter)	CBS (E192* +1 more)	Single nucleotide variant (nonsense)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GPathogenic/Likely pathogenic
Select item 3241009	NM_000071.3(CBS):c.883C>T (p.Gln295Ter)	CBS (Q190* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria	GLikely pathogenic
Select item 1066972	NM_000071.3(CBS):c.869C>T (p.Pro290Leu)	CBS (P185L +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic/Likely pathogenic
Select item 555709	NM_000071.3(CBS):c.862G>A (p.Ala288Thr)	CBS (A288T +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +2 more	GPathogenic/Likely pathogenic
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 3241008	NM_000071.3(CBS):c.829-1G>T	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria	GLikely pathogenic
Select item 557534	NM_000071.3(CBS):c.829-1G>C	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria	GLikely pathogenic
Select item 3241013	NM_000071.3(CBS):c.808_828+5del	CBS	Deletion (splice donor variant)	Classic homocystinuria	GLikely pathogenic
Select item 556952	NM_000071.3(CBS):c.828+1G>A	CBS	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 439461	NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	CBS (C272* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria +2 more	GPathogenic/Likely pathogenic
Select item 1388235	NM_000071.3(CBS):c.808_810del (p.Glu270del)	CBS (E165del +1 more)	Deletion (inframe_deletion)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GConflicting classifications of pathogenicity
Select item 125	NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	CBS (R266K +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +4 more	GPathogenic/Likely pathogenic
Select item 2680419	NM_000071.3(CBS):c.796A>G (p.Arg266Gly)	CBS (R161G +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GLikely pathogenic
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 1711543	NM_000071.3(CBS):c.784A>G (p.Thr262Ala)	CBS (T157A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 538698	NM_000071.3(CBS):c.775G>A (p.Gly259Ser)	CBS (G259S +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic/Likely pathogenic
Select item 188927	NM_000071.3(CBS):c.770C>T (p.Thr257Met)	CBS (T257M +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +5 more	GPathogenic/Likely pathogenic
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 370105	NM_000071.3(CBS):c.738del	CBS	Deletion (splice acceptor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic
Select item 471366	NM_000071.3(CBS):c.737-1G>C	CBS	Single nucleotide variant (splice acceptor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GPathogenic/Likely pathogenic
Select item 2680410	NM_000071.3(CBS):c.736_736+8del	CBS	Deletion (splice donor variant)	Classic homocystinuria	GLikely pathogenic
Select item 2008219	NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)	CBS	Microsatellite (nonsense)	Classic homocystinuria +1 more	GPathogenic/Likely pathogenic
Select item 2680400	NM_000071.3(CBS):c.727C>T (p.Gln243Ter)	CBS (Q138* +1 more)	Single nucleotide variant (nonsense)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GPathogenic
Select item 212852	NM_000071.3(CBS):c.700G>A (p.Asp234Asn)	CBS (D234N +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +3 more	GPathogenic
Select item 2680415	NM_000071.3(CBS):c.694C>G (p.His232Asp)	CBS (H127D +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GPathogenic
Select item 2680398	NM_000071.3(CBS):c.689T>A (p.Leu230Gln)	CBS (L125Q +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GLikely pathogenic
Select item 188829	NM_000071.3(CBS):c.689del (p.Leu230fs)	CBS (L230fs +1 more)	Deletion (frameshift variant)	Homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 917816	NM_000071.3(CBS):c.684C>A (p.Asn228Lys)	CBS (N123K +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic
Select item 553698	NM_000071.3(CBS):c.683A>G (p.Asn228Ser)	CBS (N228S +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic/Likely pathogenic
Select item 370382	NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	CBS (A226T +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GPathogenic/Likely pathogenic
Select item 188911	NM_000071.3(CBS):c.667-14_667-7del	CBS	Deletion (intron variant)	Homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 2680412	NM_000071.3(CBS):c.580_599del (p.Asn194fs)	CBS (N194fs +1 more)	Deletion (frameshift variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GPathogenic/Likely pathogenic
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 127	NM_000071.3(CBS):c.502G>A (p.Val168Met)	CBS (V168M +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +5 more	GConflicting classifications of pathogenicity
Select item 495531	NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)	CBS (C165Y +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +4 more	GPathogenic
Select item 1452450	NM_000071.3(CBS):c.481del (p.Arg161fs)	CBS (R161fs +1 more)	Deletion (frameshift variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GPathogenic/Likely pathogenic
Select item 212846	NM_000071.3(CBS):c.457G>A (p.Gly153Arg)	CBS (G153R +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 863694	NM_000071.3(CBS):c.451G>A (p.Gly151Arg)	CBS (G151R +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GPathogenic
Select item 371512	NM_000071.3(CBS):c.442G>A (p.Gly148Arg)	CBS (G148R +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GPathogenic/Likely pathogenic
Select item 3241012	NM_000071.3(CBS):c.437del (p.Thr146fs)	CBS (T146fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria	GLikely pathogenic
Select item 118	NM_000071.3(CBS):c.434C>T (p.Pro145Leu)	CBS (P145L +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +2 more	GPathogenic/Likely pathogenic
Select item 122	NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	CBS (E144K +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 2680403	NM_000071.3(CBS):c.407T>C (p.Leu136Pro)	CBS (L136P +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GLikely pathogenic
Select item 371200	NM_000071.3(CBS):c.402del (p.Thr135fs)	CBS (T135fs +1 more)	Deletion (frameshift variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GPathogenic/Likely pathogenic
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 340089	NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	CBS (R125W +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 2680409	NM_000071.3(CBS):c.353_362del (p.Val118fs)	CBS (V118fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria	GLikely pathogenic
Select item 188948	NM_000071.3(CBS):c.362G>A (p.Arg121His)	CBS (R121H +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)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GPathogenic/Likely pathogenic
Select item 188787	NM_000071.3(CBS):c.346G>A (p.Gly116Arg)	CBS (G116R +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +2 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 212878	NM_000071.3(CBS):c.325T>C (p.Cys109Arg)	CBS (C109R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic/Likely pathogenic
Select item 2680411	NM_000071.3(CBS):c.323del (p.Lys108fs)	CBS (K108fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria	GLikely pathogenic

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