30813[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 59196	GRCh38/hg38 20p11.22-q11.1(chr20:22061586-30285812)x3	ABHD12, ACSS1 +174 more	Copy number gain	See cases	GPathogenic
Select item 155473	GRCh38/hg38 20p11.21(chr20:25031679-25625520)x3	LOC130065583, LOC130065584 +45 more	Copy number gain	See cases	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 337943	NM_014588.5(VSX1):c.*820T>C	VSX1	Single nucleotide variant (non-coding transcript variant +1 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 337944	NM_014588.6(VSX1):c.*749C>T	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 337945	NM_014588.6(VSX1):c.*745G>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GBenign
Select item 337946	NM_014588.6(VSX1):c.*744C>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GBenign
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 337947	NM_014588.6(VSX1):c.*506T>C	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 337948	NM_014588.6(VSX1):c.*496A>G	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy +1 more	GBenign
Select item 337949	NM_014588.6(VSX1):c.*453del	VSX1	Deletion (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GBenign
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 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 337950	NM_014588.6(VSX1):c.*223G>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 337951	NM_014588.6(VSX1):c.*200G>T	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy +1 more	GBenign
Select item 337952	NM_014588.6(VSX1):c.*199G>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GBenign
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 337953	NM_014588.6(VSX1):c.*159G>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
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 898526	NM_014588.6(VSX1):c.*104C>T	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 337954	NM_014588.6(VSX1):c.*89T>C	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	GUncertain significance
Select item 337955	NM_014588.6(VSX1):c.*88C>G	VSX1	Single nucleotide variant (3 prime UTR 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 337956	NM_014588.6(VSX1):c.*3C>A	VSX1	Single nucleotide variant (3 prime UTR variant +2 more)	Polymorphous corneal dystrophy	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 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 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 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 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 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 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 3352870	NM_014588.6(VSX1):c.809-5dup	VSX1	Duplication (intron variant)	VSX1-related disorder	GLikely benign
Select item 781545	NM_014588.6(VSX1):c.809-7_809-6dup	VSX1	Duplication (intron variant)	not provided	GBenign
Select item 337957	NM_014588.6(VSX1):c.809-6dup	VSX1	Duplication (intron variant)	Polymorphous corneal dystrophy	GBenign
Select item 1991093	NM_014588.6(VSX1):c.808+17G>A	VSX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 5250	NM_014588.6(VSX1):c.766G>T (p.Ala256Ser)	VSX1 (A256S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 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 337958	NM_014588.6(VSX1):c.740C>G (p.Pro247Arg)	VSX1 (P247R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 337959	NM_014588.6(VSX1):c.731A>G (p.His244Arg)	VSX1 (H244R +1 more)	Single nucleotide variant (missense variant +2 more)	Polymorphous corneal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 3378337	NM_014588.6(VSX1):c.709_719delinsATG (p.Leu237fs)	VSX1 (L237fs +1 more)	Indel (frameshift variant +2 more)	not provided	GUncertain significance
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 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 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 3332382	NM_014588.6(VSX1):c.676T>C (p.Trp226Arg)	VSX1 (W226R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	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 3332381	NM_014588.6(VSX1):c.655T>G (p.Trp219Gly)	VSX1 (W219G)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3332380	NM_014588.6(VSX1):c.646A>G (p.Arg216Gly)	VSX1 (R216G)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3358899	NM_014588.6(VSX1):c.644G>T (p.Arg215Leu)	VSX1 (R215L)	Single nucleotide variant (missense variant +3 more)	Congenital long QT syndrome	GUncertain significance
Select item 778879	NM_014588.6(VSX1):c.628-4C>T	VSX1	Single nucleotide variant (intron variant +2 more)	not provided +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 3035973	NM_014588.6(VSX1):c.627+54C>T	VSX1	Single nucleotide variant (synonymous variant +1 more)	VSX1-related disorder	GLikely benign
Select item 1684215	NM_014588.6(VSX1):c.627+23G>A	VSX1 (R217H)	Single nucleotide variant (missense variant +1 more)	Keratoconus 1 +1 more	GBenign
Select item 896935	NM_014588.6(VSX1):c.612C>T (p.Pro204=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely 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 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 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 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 100940	NM_014588.6(VSX1):c.546A>G (p.Ala182=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy +2 more	GBenign
Select item 337960	NM_014588.6(VSX1):c.528G>A (p.Leu176=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2821752	NM_014588.6(VSX1):c.503+20C>T	VSX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 337961	NM_014588.6(VSX1):c.497G>A (p.Arg166Gln)	VSX1 (R166Q)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	GBenign
Select item 5247	NM_014588.6(VSX1):c.496C>T (p.Arg166Trp)	VSX1 (R166W)	Single nucleotide variant (missense variant +1 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 337962	NM_014588.6(VSX1):c.479G>T (p.Gly160Val)	VSX1 (G160V)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +1 more	GBenign/Likely benign
Select item 5248	NM_014588.6(VSX1):c.479G>A (p.Gly160Asp)	VSX1 (G160D)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 5249	NM_014588.6(VSX1):c.475T>A (p.Leu159Met)	VSX1 (L159M)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy	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 337963	NM_014588.6(VSX1):c.474C>G (p.Thr158=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy +1 more	GBenign/Likely benign
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 337964	NM_014588.6(VSX1):c.452A>G (p.Asn151Ser)	VSX1 (N151S)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +1 more	GConflicting classifications of pathogenicity
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 100939	NM_014588.6(VSX1):c.432C>G (p.Asp144Glu)	VSX1 (D144E)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +1 more	GBenign/Likely 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 1920752	NM_014588.6(VSX1):c.420G>C (p.Thr140=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided	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 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 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 337965	NM_014588.6(VSX1):c.391C>A (p.Arg131Ser)	VSX1 (R131S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
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 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 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 898598	NM_014588.6(VSX1):c.379C>T (p.Pro127Ser)	VSX1 (P127S)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +1 more	GUncertain significance
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 2362595	NM_014588.6(VSX1):c.340C>G (p.Pro114Ala)	VSX1 (P114A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 337966	NM_014588.6(VSX1):c.339C>T (p.Gly113=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	Polymorphous corneal dystrophy +1 more	GBenign
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 1950815	NM_014588.6(VSX1):c.330G>A (p.Pro110=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 337967	NM_014588.6(VSX1):c.315C>A (p.Asp105Glu)	VSX1 (D105E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 207909	NM_014588.6(VSX1):c.310G>C (p.Ala104Pro)	VSX1 (A104P)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GLikely benign
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 337968	NM_014588.6(VSX1):c.281C>A (p.Ala94Glu)	VSX1 (A94E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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

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