ClinVar for MedGen (Select 42485) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069023	NM_000071.3(CBS):c.829-1_829insGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGGTCACTGGGGTGGATCATCCAGGT	CBS	Insertion (splice acceptor variant)	Homocystinuria	GLikely pathogenic
Select item 2691710	NM_000071.3(CBS):c.829_830insACACTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGA	CBS	Insertion (splice acceptor variant)	Homocystinuria	GPathogenic
Select item 2445681	NM_000071.3(CBS):c.955-2A>G	CBS	Single nucleotide variant (splice acceptor variant)	Homocystinuria	GLikely pathogenic
Select item 1684071	NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)	CBS (A256T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1339663	NM_000071.3(CBS):c.1039+1G>T	CBS	Single nucleotide variant (splice donor variant)	Homocystinuria	GPathogenic
Select item 1192201	NM_000071.3(CBS):c.862G>C (p.Ala288Pro)	CBS (A183P +1 more)	Single nucleotide variant (missense variant)	Homocystinuria	GLikely pathogenic
Select item 928858	NM_000071.3(CBS):c.684C>G (p.Asn228Lys)	CBS (N123K +1 more)	Single nucleotide variant (missense variant)	Homocystinuria	GPathogenic
Select item 917816	NM_000071.3(CBS):c.684C>A (p.Asn228Lys)	CBS (N123K +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +2 more	GPathogenic
Select item 863694	NM_000071.3(CBS):c.451G>A (p.Gly151Arg)	CBS (G151R +1 more)	Single nucleotide variant (missense variant)	CBS-related condition +5 more	GPathogenic
Select item 813502	NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)	CBS (K279N +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +2 more	GPathogenic
Select item 812985	NM_000254.3(MTR):c.385G>C (p.Ala129Pro)	MTR (A129P)	Single nucleotide variant (missense variant +1 more)	Homocystinuria +1 more	GLikely pathogenic
Select item 633144	NM_000071.3(CBS):c.526G>A (p.Glu176Lys)	CBS (E176K +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +1 more	GPathogenic
Select item 632738	NM_000071.3(CBS):c.209+1G>A	CBS	Single nucleotide variant (splice donor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GPathogenic/Likely pathogenic
Select item 556952	NM_000071.3(CBS):c.828+1G>A	CBS	Single nucleotide variant (splice donor variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 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)	Classic homocystinuria +2 more	GConflicting classifications of pathogenicity
Select item 554230	NM_000071.3(CBS):c.371_374dup (p.Met126fs)	CBS (M126fs +1 more)	Duplication (frameshift variant)	Homocystinuria +2 more	GPathogenic/Likely pathogenic
Select item 553698	NM_000071.3(CBS):c.683A>G (p.Asn228Ser)	CBS (N228S +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +2 more	GConflicting classifications of pathogenicity
Select item 550653	NM_000071.3(CBS):c.982G>A (p.Asp328Asn)	CBS (D328N +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +3 more	GConflicting classifications of pathogenicity
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 496864	NM_000071.3(CBS):c.904G>A (p.Glu302Lys)	CBS (E302K +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 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)	Familial thoracic aortic aneurysm and aortic dissection +4 more	GPathogenic
Select item 495530	NM_000071.3(CBS):c.1221del (p.Trp408fs)	CBS (W303fs +1 more)	Deletion (frameshift variant)	Homocystinuria +2 more	GPathogenic/Likely pathogenic
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 420089	NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)	CBS (C370Y +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +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 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 371345	NM_000071.3(CBS):c.19dup (p.Gln7fs)	CBS (Q7fs)	Duplication (frameshift variant)	Homocystinuria +3 more	GPathogenic
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 371028	NM_000071.3(CBS):c.959T>C (p.Val320Ala)	CBS (V320A +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +3 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)	Homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 340092	NM_000071.3(CBS):c.-50dup	CBS	Duplication (5 prime UTR variant)	Homocystinuria	GUncertain significance
Select item 340089	NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	CBS (R125W +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +3 more	GPathogenic/Likely pathogenic
Select item 340082	NM_000071.3(CBS):c.1194GGA[2] (p.Glu400del)	CBS (E400del +1 more)	Microsatellite (inframe_deletion)	Homocystinuria +1 more	GUncertain significance
Select item 340079	NM_000071.3(CBS):c.55_57del	CBS	Deletion (3 prime UTR variant +1 more)	Homocystinuria	GUncertain significance
Select item 340077	NM_000071.3(CBS):c.*98CTGGC[1]	CBS	Microsatellite (3 prime UTR variant +1 more)	Homocystinuria	GBenign
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 212878	NM_000071.3(CBS):c.325T>C (p.Cys109Arg)	CBS (C109R +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GPathogenic
Select item 212873	NM_000071.3(CBS):c.162G>A (p.Trp54Ter)	CBS (W54*)	Single nucleotide variant (nonsense)	Homocystinuria +2 more	GConflicting classifications of pathogenicity
Select item 212862	NM_000071.3(CBS):c.1111G>A (p.Val371Met)	CBS (V371M +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +5 more	GPathogenic/Likely pathogenic
Select item 212857	NM_000071.3(CBS):c.992C>A (p.Ala331Glu)	CBS (A331E +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +3 more	GPathogenic/Likely pathogenic
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 212846	NM_000071.3(CBS):c.457G>A (p.Gly153Arg)	CBS (G153R +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +3 more	GConflicting classifications of pathogenicity
Select item 212842	NM_000071.3(CBS):c.361C>T (p.Arg121Cys)	CBS (R121C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 203828	NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	MMACHC (G147A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 198988	NM_000071.3(CBS):c.785C>T (p.Thr262Met)	CBS (T262M +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 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)	Homocystinuria +3 more	GPathogenic
Select item 189185	NM_000071.3(CBS):c.302T>C (p.Leu101Pro)	CBS (L101P)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +2 more	GPathogenic/Likely pathogenic
Select item 188948	NM_000071.3(CBS):c.362G>A (p.Arg121His)	CBS (R121H +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 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	GConflicting classifications of pathogenicity
Select item 188911	NM_000071.3(CBS):c.667-14_667-7del	CBS	Deletion (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +3 more	GPathogenic/Likely 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 188801	NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	CBS (G347S +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +4 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 188784	NM_000071.3(CBS):c.1566del (p.Lys523fs)	CBS (K523fs +1 more)	Deletion (frameshift variant)	Homocystinuria +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)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED +4 more	GPathogenic
Select item 14278	NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)	MTR (P1173L +2 more)	Single nucleotide variant (missense variant)	Disorders of Intracellular Cobalamin Metabolism +3 more	GPathogenic
Select item 132	NM_000071.3(CBS):c.572C>T (p.Thr191Met)	CBS (T191M +1 more)	Single nucleotide variant (missense variant)	CBS-related condition +5 more	GPathogenic/Likely pathogenic
Select item 131	NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	CBS (T353M +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +4 more	GPathogenic/Likely pathogenic
Select item 128	NM_000071.3(CBS):c.1224-2A>C	CBS	Single nucleotide variant (splice acceptor variant)	CBS-related condition +5 more	GPathogenic
Select item 127	NM_000071.3(CBS):c.502G>A (p.Val168Met)	CBS (V168M +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +4 more	GConflicting classifications of pathogenicity
Select item 126	NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	CBS (D444N +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +4 more	GPathogenic/Likely pathogenic
Select item 125	NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	CBS (R266K +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +4 more	GPathogenic/Likely pathogenic
Select item 124	NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)	CBS (L539S +1 more)	Single nucleotide variant (missense variant)	Homocystinuria +2 more	GConflicting classifications of pathogenicity
Select item 122	NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	CBS (E144K +1 more)	Single nucleotide variant (missense variant)	CBS-related condition +4 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)	Homocystinuria +6 more	GPathogenic
Select item 119	NM_000071.3(CBS):c.341C>T (p.Ala114Val)	CBS (A114V +1 more)	Single nucleotide variant (missense variant)	CBS-related condition +5 more	GPathogenic/Likely pathogenic
Select item 118	NM_000071.3(CBS):c.434C>T (p.Pro145Leu)	CBS (P145L +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria +2 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)	CBS-related condition +5 more	GPathogenic

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Items: 68