"Genome-Nilou Lab"[submitter] AND "EYS"[gene] - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1076062	NM_001142800.2(EYS):c.8150del (p.Lys2717fs)	EYS (K2717fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 556919	NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu)	EYS (G2623E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 1175355	NM_001142800.2(EYS):c.7723+64T>A	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 137259	NM_001142800.2(EYS):c.7666A>T (p.Ser2556Cys)	EYS (S2556C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign
Select item 1199266	NM_001142800.2(EYS):c.7480G>A (p.Gly2494Arg)	EYS (G2494R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 1199366	NM_001142800.2(EYS):c.7366G>A (p.Ala2456Thr)	EYS (A2456T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 1210405	NM_001142800.2(EYS):c.7196del (p.Pro2399fs)	EYS (P2399fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 93620	NM_001142800.2(EYS):c.6977G>A (p.Arg2326Gln)	EYS (R2326Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 1175356	NM_001142800.2(EYS):c.6834+61T>G	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 438203	NM_001142800.2(EYS):c.6323G>A (p.Cys2108Tyr)	EYS (C2108Y)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1199270	NM_001142800.2(EYS):c.6116A>T (p.Glu2039Val)	EYS (E2039V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 1175357	NM_001142800.2(EYS):c.6078+68A>G	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175358	NM_001142800.2(EYS):c.5928-35T>C	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1199268	NM_001142800.2(EYS):c.5884A>G (p.Thr1962Ala)	EYS (T1962A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 1175359	NM_001142800.2(EYS):c.5835+155T>C	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 137256	NM_001142800.2(EYS):c.5705A>T (p.Asn1902Ile)	EYS (N1902I)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 724734	NM_001142800.2(EYS):c.5629C>T (p.Arg1877Trp)	EYS (R1877W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 93616	NM_001142800.2(EYS):c.5244A>C (p.Leu1748Phe)	EYS (L1748F)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 167051	NM_001142800.2(EYS):c.4985A>T (p.Asp1662Val)	EYS (D1662V)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 93615	NM_001142800.2(EYS):c.4593G>A (p.Glu1531=)	EYS	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 93614	NM_001142800.2(EYS):c.4549A>G (p.Ser1517Gly)	EYS (S1517G)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 93613	NM_001142800.2(EYS):c.4543C>T (p.Arg1515Trp)	EYS (R1515W)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 357712	NM_001142800.2(EYS):c.4440A>G (p.Arg1480=)	EYS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93612	NM_001142800.2(EYS):c.4352T>C (p.Ile1451Thr)	EYS (I1451T)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 1199269	NM_001142800.2(EYS):c.4290C>G (p.Ser1430Arg)	EYS (S1430R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 1199267	NM_001142800.2(EYS):c.4261G>C (p.Ala1421Pro)	EYS (A1421P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 93611	NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser)	EYS (L1419S)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 93610	NM_001142800.2(EYS):c.4081A>G (p.Ile1361Val)	EYS (I1361V)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 93609	NM_001142800.2(EYS):c.4026C>T (p.Ser1342=)	EYS	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 93608	NM_001142800.2(EYS):c.3973C>G (p.Gln1325Glu)	EYS (Q1325E)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 93607	NM_001142800.2(EYS):c.3936A>G (p.Thr1312=)	EYS	Single nucleotide variant (synonymous variant)	Retinal dystrophy +4 more	GBenign
Select item 93606	NM_001142800.2(EYS):c.3906C>T (p.His1302=)	EYS	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 137241	NM_001142800.2(EYS):c.3787A>G (p.Ile1263Val)	EYS (I1263V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign
Select item 723093	NM_001142800.2(EYS):c.3586T>C (p.Cys1196Arg)	EYS (C1196R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity
Select item 1175360	NM_001142800.2(EYS):c.3568+99C>A	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 357717	NM_001142800.2(EYS):c.3444-5C>T	EYS	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1175361	NM_001142800.2(EYS):c.3443+160T>G	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1210404	NM_001142800.2(EYS):c.2993-2A>G	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 194931	NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe)	EYS (L991F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity
Select item 1175362	NM_001142800.2(EYS):c.2847-24C>T	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175363	NM_001142800.2(EYS):c.2847-157A>G	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 137272	NM_001142800.2(EYS):c.2733T>C (p.Asn911=)	EYS	Single nucleotide variant (synonymous variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 1175364	NM_001142800.2(EYS):c.2641+198A>C	EYS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 25 +1 more	GBenign
Select item 93605	NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)	EYS (L852P)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 1175365	NM_001142800.2(EYS):c.2382-26C>G	EYS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 25 +1 more	GBenign
Select item 93604	NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro)	EYS (Q770P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1175366	NM_001142800.2(EYS):c.2260-76G>A	EYS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 25 +1 more	GBenign
Select item 137268	NM_001142800.2(EYS):c.1922A>T (p.Glu641Val)	EYS (E641V)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 137267	NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser)	EYS (G631S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign
Select item 137266	NM_001142800.2(EYS):c.1809C>T (p.Val603=)	EYS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +4 more	GBenign/Likely benign
Select item 1175347	NM_001142800.2(EYS):c.1767-136T>G	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 137265	NM_001142800.2(EYS):c.1712A>G (p.Gln571Arg)	EYS (Q571R)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 1175348	NM_001142800.2(EYS):c.1600-38G>A	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175349	NM_001142800.2(EYS):c.1600-79A>G	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175350	NM_001142800.2(EYS):c.1599+96A>C	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 788995	NM_001142800.2(EYS):c.1596A>C (p.Lys532Asn)	EYS (K532N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1175351	NM_001142800.2(EYS):c.1459+103C>T	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 137263	NM_001142800.2(EYS):c.1300-3C>T	EYS	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 137262	NM_001142800.2(EYS):c.1146T>C (p.Asn382=)	EYS	Single nucleotide variant (synonymous variant)	Retinal dystrophy +4 more	GBenign
Select item 1175352	NM_001142800.2(EYS):c.862+87T>C	EYS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 624255	NM_001142800.2(EYS):c.602A>G (p.His201Arg)	EYS (H201R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 137261	NM_001142800.2(EYS):c.359C>T (p.Thr120Met)	EYS (T120M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign
Select item 357749	NM_001142800.2(EYS):c.281C>A (p.Pro94Gln)	EYS (P94Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity

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Items: 63