"Invitae"[submitter] AND "VSX1"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 781545	NM_014588.6(VSX1):c.809-7_809-6dup	VSX1	Duplication (intron variant)	not provided	GBenign
Select item 1991093	NM_014588.6(VSX1):c.808+17G>A	VSX1	Single nucleotide variant (intron variant)	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 337958	NM_014588.6(VSX1):c.740C>G (p.Pro247Arg)	VSX1 (P247R +1 more)	Single nucleotide variant (missense variant +2 more)	Keratoconus 1 +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)	VSX1-related condition +3 more	GConflicting classifications of pathogenicity
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 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 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 1916369	NM_014588.6(VSX1):c.580C>T (p.Arg194Ter)	VSX1 (R194*)	Single nucleotide variant (nonsense +1 more)	not provided	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 337962	NM_014588.6(VSX1):c.479G>T (p.Gly160Val)	VSX1 (G160V)	Single nucleotide variant (missense variant +1 more)	not provided +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 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)	VSX1-related condition +2 more	GBenign/Likely benign
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 (non-coding transcript 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 337965	NM_014588.6(VSX1):c.391C>A (p.Arg131Ser)	VSX1 (R131S)	Single nucleotide variant (missense variant +1 more)	Polymorphous corneal dystrophy +1 more	GBenign
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 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 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)	Polymorphous corneal dystrophy +1 more	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 2705419	NM_014588.6(VSX1):c.183G>A (p.Ala61=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 337969	NM_014588.6(VSX1):c.174G>T (p.Pro58=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	VSX1-related condition +2 more	GBenign
Select item 337970	NM_014588.6(VSX1):c.173C>T (p.Pro58Leu)	VSX1 (P58L)	Single nucleotide variant (missense variant +1 more)	Keratoconus +3 more	GConflicting classifications of pathogenicity
Select item 895608	NM_014588.6(VSX1):c.81C>T (p.Arg27=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	VSX1-related condition +2 more	GBenign
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 2907242	NM_014588.6(VSX1):c.49C>G (p.Leu17Val)	VSX1 (L17V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
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 260423	NM_014588.6(VSX1):c.18G>T (p.Ser6=)	VSX1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
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 2423578	NC_000020.10:g.(?_25056897)_(25320007_?)dup	ABHD12, ENTPD6 +2 more	Duplication	not provided	GUncertain significance

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Items: 39