ClinVar for Gene (Select 875) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344091	NM_000071.3(CBS):c.707C>T (p.Thr236Ile)	CBS (T131I +1 more)	Single nucleotide variant (missense variant)	CBS-related disorder	GUncertain significance
Select item 3339675	NM_000071.3(CBS):c.-8-4C>T	CBS	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339154	NM_000071.3(CBS):c.1046G>C (p.Ser349Thr)	CBS (S244T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338014	NM_000071.3(CBS):c.829-15_829-14insGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCTGCGCCCTCTGCAGATCACTGGGGTGGATCATCCAGGT	CBS	Insertion (intron variant)	not specified	GUncertain significance
Select item 3336484	NM_000071.3(CBS):c.502G>C (p.Val168Leu)	CBS (V168L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263666	NM_000071.3(CBS):c.31G>T (p.Gly11Trp)	CBS (G11W)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3263665	NM_000071.3(CBS):c.1068G>A (p.Val356=)	CBS	Single nucleotide variant (synonymous variant)	Familial thoracic aortic aneurysm and aortic dissection	GLikely benign
Select item 3263664	NM_000071.3(CBS):c.592G>A (p.Asp198Asn)	CBS (D198N +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3263663	NM_000071.3(CBS):c.812A>G (p.Lys271Arg)	CBS (K271R +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3263662	NM_000071.3(CBS):c.1444G>T (p.Val482Phe)	CBS (V377F +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3263660	NM_000071.3(CBS):c.1594G>T (p.Gly532Trp)	CBS (G532W +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3263659	NM_000071.3(CBS):c.225A>T (p.Lys75Asn)	CBS (K75N)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3257396	NM_000071.3(CBS):c.1042G>A (p.Gly348Ser)	CBS (G243S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3251498	NM_000071.3(CBS):c.374G>C (p.Arg125Pro)	CBS (R125P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248157	NC_000021.8:g.(?_44485540)_(44485959_?)dup	CBS	Duplication	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 3248156	NC_000021.8:g.(?_44480531)_(44482525_?)del	CBS	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 3248155	NC_000021.8:g.(?_44492075)_(44492303_?)del	CBS	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 3248154	NC_000021.8:g.(?_44473990)_(44474113_?)del	CBS	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 3248150	NC_000021.8:g.(?_44473990)_(45629566_?)del	AGPAT3, CBS +11 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3241014	NM_000071.3(CBS):c.1391dup (p.Met464fs)	CBS (M359fs +1 more)	Duplication (frameshift 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 3241012	NM_000071.3(CBS):c.437del (p.Thr146fs)	CBS (T146fs +1 more)	Deletion (frameshift 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 3241010	NM_000071.3(CBS):c.1229G>A (p.Trp410Ter)	CBS (W305* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria	GLikely 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 3241008	NM_000071.3(CBS):c.829-1G>T	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria	GLikely pathogenic
Select item 3230225	NM_000071.3(CBS):c.1645G>C (p.Asp549His)	CBS (D444H +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3230224	NM_000071.3(CBS):c.1434A>C (p.Gln478His)	CBS (Q373H +1 more)	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection	GUncertain significance
Select item 3075896	NM_000071.3(CBS):c.955-2A>C	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria	GLikely pathogenic
Select item 3075895	NM_000071.3(CBS):c.1039+2T>G	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria	GLikely pathogenic
Select item 3075864	NM_000071.3(CBS):c.955-2A>T	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria	GLikely pathogenic
Select item 3075863	NM_000071.3(CBS):c.833T>G (p.Ile278Ser)	CBS (I173S +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GLikely pathogenic
Select item 3075862	NM_000071.3(CBS):c.452-2A>C	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria	GPathogenic
Select item 3075861	NM_000071.3(CBS):c.210-2A>C	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria	GLikely pathogenic
Select item 3069023	NM_000071.3(CBS):c.829-1_829insGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGGTCACTGGGGTGGATCATCCAGGT	CBS	Insertion (splice acceptor variant)	Homocystinuria	GLikely pathogenic
Select item 3065724	NM_000071.3(CBS):c.1454A>G (p.Lys485Arg)	CBS (K380R +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GUncertain significance
Select item 3064787	NM_000071.3(CBS):c.1357G>A (p.Gly453Arg)	CBS (G348R +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GLikely pathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3061619	NM_000071.3(CBS):c.996C>A (p.Phe332Leu)	CBS (F227L +1 more)	Single nucleotide variant (missense variant)	CBS-related disorder	GUncertain significance
Select item 3050504	NM_000071.3(CBS):c.1224-96G>C	CBS	Single nucleotide variant (intron variant)	CBS-related disorder	GLikely benign
Select item 3042340	NM_000071.3(CBS):c.*6G>A	CBS	Single nucleotide variant (3 prime UTR variant)	CBS-related disorder	GLikely benign
Select item 3035418	NM_000071.3(CBS):c.316+726G>A	CBS	Single nucleotide variant (5 prime UTR variant +1 more)	CBS-related disorder	GLikely benign
Select item 3032412	NM_000071.3(CBS):c.316+722C>A	CBS	Single nucleotide variant (5 prime UTR variant +1 more)	CBS-related disorder	GLikely benign
Select item 3030731	NM_000071.3(CBS):c.1223+64A>G	CBS	Single nucleotide variant (intron variant)	CBS-related disorder	GLikely benign
Select item 3029765	NM_000071.3(CBS):c.1224-78C>T	CBS	Single nucleotide variant (intron variant)	CBS-related disorder	GLikely benign
Select item 3019677	NC_000021.9:g.43063090_43063091insGGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCG	CBS	Insertion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GBenign
Select item 3017286	NM_000071.3(CBS):c.532-7C>G	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 3016934	NM_000071.3(CBS):c.1467+16C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 3016377	NM_000071.3(CBS):c.1223+13G>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 3012869	NM_000071.3(CBS):c.972C>T (p.Phe324=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 3008087	NM_000071.3(CBS):c.829-12C>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 3004170	NM_000071.3(CBS):c.676G>T (p.Ala226Ser)	CBS (A226S +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely pathogenic
Select item 3001250	NM_000071.3(CBS):c.532-19A>G	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2999486	NM_000071.3(CBS):c.209+19C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2997009	NM_000071.3(CBS):c.451+7G>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2996161	NM_000071.3(CBS):c.333C>T (p.Phe111=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2993386	NM_000071.3(CBS):c.920G>A (p.Gly307Asp)	CBS (G202D +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely pathogenic
Select item 2990926	NM_000071.3(CBS):c.1039+9G>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2989946	NM_000071.3(CBS):c.1188T>C (p.Phe396=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2988075	NM_000071.3(CBS):c.452-14C>G	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2984928	NM_000071.3(CBS):c.1145+17C>G	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2982972	NM_000071.3(CBS):c.531+8G>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2981733	NM_000071.3(CBS):c.452-17C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2979924	NM_000071.3(CBS):c.1359-13C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2979689	NM_000071.3(CBS):c.1145+17C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2976683	NM_000071.3(CBS):c.1467+11A>G	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2971259	NM_000071.3(CBS):c.1552+12C>G	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2969903	NM_000071.3(CBS):c.1146-4G>C	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2967621	NM_000071.3(CBS):c.66C>T (p.His22=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2966689	NM_000071.3(CBS):c.1359-9G>C	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2964923	NM_000071.3(CBS):c.102G>A (p.Glu34=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2963091	NM_000071.3(CBS):c.666+7C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2960655	NM_000071.3(CBS):c.586A>C (p.Arg196=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2955701	NM_000071.3(CBS):c.915G>T (p.Gly305=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2920109	NM_000071.3(CBS):c.666+11T>C	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2918740	NM_000071.3(CBS):c.954+17G>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2918523	NM_000071.3(CBS):c.1359-10del	CBS	Deletion (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GBenign
Select item 2918483	NM_000071.3(CBS):c.451+11G>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2918091	NM_000071.3(CBS):c.1200G>A (p.Glu400=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2915307	NM_000071.3(CBS):c.638A>G (p.Glu213Gly)	CBS (E108G +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GUncertain significance
Select item 2915266	NM_000071.3(CBS):c.1146-19T>G	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2915228	NM_000071.3(CBS):c.828+15C>T	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2914523	NM_000071.3(CBS):c.1356G>C (p.Ala452=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2914322	NM_000071.3(CBS):c.1135C>G (p.Arg379Gly)	CBS (R274G +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely pathogenic
Select item 2913713	NM_000071.3(CBS):c.361C>G (p.Arg121Gly)	CBS (R121G +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely pathogenic
Select item 2911962	NM_000071.3(CBS):c.1467+12C>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2910558	NM_000071.3(CBS):c.1039+19C>A	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2909872	NM_000071.3(CBS):c.414C>G (p.Pro138=)	CBS	Single nucleotide variant (synonymous variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2909197	NM_000071.3(CBS):c.737-17T>C	CBS	Single nucleotide variant (intron variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely benign
Select item 2908236	NM_000071.3(CBS):c.1007G>T (p.Arg336Leu)	CBS (R336L +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely pathogenic
Select item 2908227	NM_000071.3(CBS):c.1111G>C (p.Val371Leu)	CBS (V266L +1 more)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely pathogenic
Select item 2908113	NM_000071.3(CBS):c.284T>A (p.Ile95Asn)	CBS (I95N)	Single nucleotide variant (missense variant)	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GLikely pathogenic

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