Related gene-specific medical variations for Gene (Select 875) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2680418	NM_000071.3(CBS):c.1040-2A>G	CBS	Single nucleotide variant (splice acceptor variant)	Classic homocystinuria	GLikely pathogenic
Select item 2680417	NM_000071.3(CBS):c.978del (p.Ser326fs)	CBS (S221fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria	GLikely pathogenic
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 2680413	NM_000071.3(CBS):c.1318G>T (p.Glu440Ter)	CBS (E335* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria	GLikely pathogenic
Select item 2680411	NM_000071.3(CBS):c.323del (p.Lys108fs)	CBS (K108fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria	GLikely pathogenic
Select item 2680410	NM_000071.3(CBS):c.736_736+8del	CBS	Deletion (splice donor variant)	Classic homocystinuria	GLikely 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 2680408	NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)	CBS (S315* +1 more)	Single nucleotide variant (nonsense)	Classic homocystinuria	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 2680406	NM_000071.3(CBS):c.209+1G>T	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria	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 2680404	NM_000071.3(CBS):c.209dup (p.Ala71fs)	CBS (A71fs)	Duplication (frameshift variant)	Classic homocystinuria	GPathogenic
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 2680402	NM_000071.3(CBS):c.1039+2T>C	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria	GLikely pathogenic
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 2680399	NM_000071.3(CBS):c.1358+2T>A	CBS	Single nucleotide variant (splice donor variant)	Classic homocystinuria	GLikely pathogenic
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 2674643	NM_000071.3(CBS):c.316+586A>G	CBS	Single nucleotide variant (5 prime UTR variant +1 more)	Classic homocystinuria	GLikely benign
Select item 2435631	NM_000071.3(CBS):c.1227_1240del (p.Trp409fs)	CBS (W304fs +1 more)	Deletion (frameshift variant)	Classic homocystinuria	GPathogenic
Select item 1526721	GRCh37/hg19 21q22.3(chr21:44477206-44488974)	CBS	Copy number loss	not specified	GUncertain significance
Select item 1184958	NM_000071.3(CBS):c.869C>A (p.Pro290Gln)	CBS (P185Q +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 994049	NM_000071.3(CBS):c.170G>A (p.Gly57Asp)	CBS (G57D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994047	NM_000071.3(CBS):c.1368G>T (p.Leu456=)	CBS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989626	NM_000071.3(CBS):c.741G>C (p.Lys247Asn)	CBS (K142N +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GUncertain significance
Select item 989625	NM_000071.3(CBS):c.763G>C (p.Val255Leu)	CBS (V150L +1 more)	Single nucleotide variant (missense variant)	Classic homocystinuria	GUncertain significance
Select item 987499	NM_000071.3(CBS):c.903C>A (p.Tyr301Ter)	CBS (Y196* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 439458	NM_000071.3(CBS):c.829-60C>T	CBS	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 212875	NM_000071.3(CBS):c.266T>A (p.Met89Lys)	CBS (M89K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 212822	NM_000071.3(CBS):c.829-88G>A	CBS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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Links from Gene

Items: 43