ClinVar for Gene (Select 30813) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248344	NC_000020.10:g.(?_25056897)_(25426627_?)dup	PYGB, VSX1 +3 more	Duplication	not provided	GUncertain significance
Select item 3189187	NM_014588.6(VSX1):c.401G>T (p.Arg134Leu)	VSX1 (R134L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189186	NM_014588.6(VSX1):c.338G>C (p.Gly113Ala)	VSX1 (G113A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189185	NM_014588.6(VSX1):c.289C>G (p.Arg97Gly)	VSX1 (R97G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189184	NM_014588.6(VSX1):c.269C>G (p.Thr90Arg)	VSX1 (T90R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189183	NM_014588.6(VSX1):c.191C>T (p.Pro64Leu)	VSX1 (P64L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3189182	NM_014588.6(VSX1):c.17C>T (p.Ser6Leu)	VSX1 (S6L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3189181	NM_014588.6(VSX1):c.134C>T (p.Ala45Val)	VSX1 (A45V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3189180	NM_014588.6(VSX1):c.1067G>A (p.Gly356Glu)	VSX1 (G125E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3035973	NM_014588.6(VSX1):c.627+54C>T	VSX1	Single nucleotide variant (synonymous variant +1 more)	VSX1-related disorder	GLikely benign
Select item 2972491	NM_014588.6(VSX1):c.419C>T (p.Thr140Met)	VSX1 (T140M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2971874	NM_014588.6(VSX1):c.700G>C (p.Glu234Gln)	VSX1 (E234Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2907242	NM_014588.6(VSX1):c.49C>G (p.Leu17Val)	VSX1 (L17V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2840556	NM_014588.6(VSX1):c.212C>G (p.Ser71Cys)	VSX1 (S71C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2821752	NM_014588.6(VSX1):c.503+20C>T	VSX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2736956	NM_014588.6(VSX1):c.715G>C (p.Gly239Arg)	VSX1 (G8R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2705419	NM_014588.6(VSX1):c.183G>A (p.Ala61=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2692900	NM_014588.6(VSX1):c.422C>T (p.Ser141Phe)	VSX1 (S141F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2628880	NM_014588.6(VSX1):c.659G>A (p.Arg220His)	VSX1 (R220H)	Single nucleotide variant (missense variant +3 more)	VSX1-related disorder	GUncertain significance
Select item 2541563	NM_014588.6(VSX1):c.769G>A (p.Glu257Lys)	VSX1 (E26K +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2538191	NM_014588.6(VSX1):c.121G>T (p.Ala41Ser)	VSX1 (A41S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514632	NM_014588.6(VSX1):c.139G>A (p.Ala47Thr)	VSX1 (A47T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2490318	NM_014588.6(VSX1):c.19C>T (p.Leu7Phe)	VSX1 (L7F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2467365	NM_014588.6(VSX1):c.388G>A (p.Gly130Ser)	VSX1 (G130S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2438543	NM_014588.6(VSX1):c.221C>A (p.Ala74Glu)	VSX1 (A74E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430436	NM_014588.6(VSX1):c.813G>A (p.Met271Ile)	VSX1 (M271I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2423578	NC_000020.10:g.(?_25056897)_(25320007_?)dup	ABHD12, ENTPD6 +2 more	Duplication	not provided	GUncertain significance
Select item 2406195	NM_014588.6(VSX1):c.814C>T (p.His272Tyr)	VSX1 (H272Y +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2398229	NM_014588.6(VSX1):c.881C>G (p.Ser294Cys)	VSX1 (S294C +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2380328	NM_014588.6(VSX1):c.565C>T (p.Pro189Ser)	VSX1 (P189S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362595	NM_014588.6(VSX1):c.340C>G (p.Pro114Ala)	VSX1 (P114A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2353209	NM_014588.6(VSX1):c.1033G>T (p.Ala345Ser)	VSX1 (A345S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2304084	NM_014588.6(VSX1):c.112G>A (p.Gly38Ser)	VSX1 (G38S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2284359	NM_014588.6(VSX1):c.470C>G (p.Pro157Arg)	VSX1 (P157R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268498	NM_014588.6(VSX1):c.754G>A (p.Val252Met)	VSX1 (V21M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2155997	NM_014588.6(VSX1):c.997C>T (p.Arg333Trp)	VSX1 (R333W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2081049	NM_014588.6(VSX1):c.435C>T (p.Ser145=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2061433	NM_014588.6(VSX1):c.474C>T (p.Thr158=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1991093	NM_014588.6(VSX1):c.808+17G>A	VSX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950815	NM_014588.6(VSX1):c.330G>A (p.Pro110=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1920752	NM_014588.6(VSX1):c.420G>C (p.Thr140=)	VSX1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1916369	NM_014588.6(VSX1):c.580C>T (p.Arg194Ter)	VSX1 (R194*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1684215	NM_014588.6(VSX1):c.627+23G>A	VSX1 (R217H)	Single nucleotide variant (missense variant +1 more)	Keratoconus 1	GBenign
Select item 1526689	GRCh37/hg19 20p11.21(chr20:25061392-25482415)	ABHD12, ENTPD6 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 1049666	NM_014588.6(VSX1):c.64T>A (p.Ser22Thr)	VSX1 (S22T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1049448	NM_001256271.2(VSX1):c.689C>T (p.Pro230Leu)	VSX1 (P230L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 more	Copy number gain	not provided	GLikely pathogenic
Select item 979559	GRCh37/hg19 20p11.21(chr20:24989180-25156722)x1	VSX1, ACSS1	Copy number loss	not provided	GUncertain significance
Select item 932305	NM_014588.6(VSX1):c.412G>A (p.Val138Ile)	VSX1 (V138I)	Single nucleotide variant (missense variant +1 more)	Craniofacial anomalies and anterior segment dysgenesis syndrome	GBenign
Select item 898599	NM_014588.6(VSX1):c.378G>A (p.Pro126=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 898598	NM_014588.6(VSX1):c.379C>T (p.Pro127Ser)	VSX1 (P127S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 898597	NM_014588.6(VSX1):c.387C>G (p.Leu129=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 898596	NM_014588.6(VSX1):c.389G>A (p.Gly130Asp)	VSX1 (G130D)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +1 more	GUncertain significance
Select item 898526	NM_014588.6(VSX1):c.*104C>T	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GBenign
Select item 898525	NM_014588.6(VSX1):c.*112A>G	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 898524	NM_014588.6(VSX1):c.*169G>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 898523	NM_014588.6(VSX1):c.*396T>G	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 898522	NM_014588.6(VSX1):c.*416T>C	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 897431	NM_014588.6(VSX1):c.485G>A (p.Arg162Lys)	VSX1 (R162K)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 897367	NM_014588.6(VSX1):c.*610G>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 896937	NM_014588.6(VSX1):c.557C>T (p.Ala186Val)	VSX1 (A186V)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 896936	NM_014588.6(VSX1):c.578C>T (p.Ala193Val)	VSX1 (A193V)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 896935	NM_014588.6(VSX1):c.612C>T (p.Pro204=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy +1 more	GBenign/Likely benign
Select item 896934	NM_014588.6(VSX1):c.628-13T>C	VSX1	Single nucleotide variant (5 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GBenign
Select item 896933	NM_014588.6(VSX1):c.717G>A (p.Gly239=)	VSX1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 895608	NM_014588.6(VSX1):c.81C>T (p.Arg27=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy +3 more	GBenign/Likely benign
Select item 895607	NM_014588.6(VSX1):c.83C>T (p.Pro28Leu)	VSX1 (P28L)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 895534	NM_014588.6(VSX1):c.768C>T (p.Ala256=)	VSX1	Single nucleotide variant (synonymous variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 895533	NM_014588.6(VSX1):c.871C>T (p.Leu291Phe)	VSX1 (L60F +1 more)	Single nucleotide variant (missense variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 895532	NM_014588.6(VSX1):c.*64G>T	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 781545	NM_014588.6(VSX1):c.809-7_809-6dup	VSX1	Duplication (intron variant)	not provided	GBenign
Select item 778879	NM_014588.6(VSX1):c.628-4C>T	VSX1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 728907	NM_014588.6(VSX1):c.39C>T (p.Ser13=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 727038	NM_014588.6(VSX1):c.758_765del (p.Leu253fs)	VSX1 (L253fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GLikely benign
Select item 719585	NM_014588.6(VSX1):c.2T>A (p.Met1Lys)	VSX1 (M1K)	Single nucleotide variant (missense variant +2 more)	Keratoconus 1 +2 more	GLikely benign
Select item 686745	GRCh37/hg19 20p11.21(chr20:24232978-25520939)x3	ABHD12, ACSS1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 564627	GRCh37/hg19 20p11.21(chr20:25061392-25482415)x3	ABHD12, PYGB +4 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	CST11, CST2 +89 more	Duplication	not provided	GPathogenic
Select item 488734	NM_014588.6(VSX1):c.165C>A (p.Cys55Ter)	VSX1 (C55*)	Single nucleotide variant (nonsense +1 more)	Polymorphous corneal dystrophy +1 more	GUncertain significance
Select item 443671	GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	ABHD12, ACSS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 442830	GRCh37/hg19 20p11.23-11.1(chr20:18500917-25847320)x1	ABHD12, ACSS1 +44 more	Copy number loss	See cases	GPathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 394073	GRCh37/hg19 20p11.21(chr20:24930152-25195470)x3	ACSS1, APMAP +3 more	Copy number gain	See cases	GUncertain significance
Select item 369353	NM_014588.5(VSX1):c.-289C>G	VSX1	Single nucleotide variant	Polymorphous corneal dystrophy	GLikely benign
Select item 337979	NM_014588.5(VSX1):c.-271G>T	VSX1	Single nucleotide variant	Polymorphous corneal dystrophy	GUncertain significance
Select item 337978	NM_014588.5(VSX1):c.-274_-270GGGGT[2]	VSX1	Microsatellite	Polymorphous corneal dystrophy	GBenign
Select item 337977	NM_014588.5(VSX1):c.-274_-270GGGGT[3]	VSX1	Microsatellite	Polymorphous corneal dystrophy	GUncertain significance
Select item 337976	NM_014588.5(VSX1):c.-244G>T	VSX1	Single nucleotide variant	Polymorphous corneal dystrophy	GUncertain significance
Select item 337975	NM_014588.5(VSX1):c.-239G>C	VSX1	Single nucleotide variant	Polymorphous corneal dystrophy	GUncertain significance
Select item 337974	NM_014588.5(VSX1):c.-197G>A	VSX1	Single nucleotide variant	Polymorphous corneal dystrophy	GBenign
Select item 337973	NM_014588.5(VSX1):c.-175C>G	VSX1	Single nucleotide variant	Polymorphous corneal dystrophy	GUncertain significance
Select item 337972	NM_014588.5(VSX1):c.-61C>G	VSX1	Single nucleotide variant	Polymorphous corneal dystrophy	GUncertain significance
Select item 337971	NM_014588.6(VSX1):c.60C>T (p.Gly20=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy	GBenign
Select item 337970	NM_014588.6(VSX1):c.173C>T (p.Pro58Leu)	VSX1 (P58L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 337969	NM_014588.6(VSX1):c.174G>T (p.Pro58=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy +2 more	GBenign

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