"Counsyl"[submitter] AND "EYS"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 538	NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	EYS, PHF3 (Y3156* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 281809	NM_001142800.2(EYS):c.9342TGT[1] (p.Val3116del)	EYS, PHF3 (V3116del +1 more)	Microsatellite (inframe_deletion +1 more)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity
Select item 557700	NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	EYS, PHF3 (T3106fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 289906	NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	EYS, PHF3 (V3117fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 558109	NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs)	EYS, PHF3 (I3056fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 556940	NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs)	EYS, PHF3 (R3027fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 552326	NM_001142800.2(EYS):c.8860T>C (p.Phe2954Leu)	EYS, PHF3 (F2954L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +4 more	GConflicting classifications of pathogenicity
Select item 550019	NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	EYS, PHF3 (T2883fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 438210	NM_001142800.2(EYS):c.8618A>G (p.Asp2873Gly)	EYS, PHF3 (D2873G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 287296	NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile)	EYS, PHF3 (T2810I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 252538	NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)	EYS, PHF3 (A2808T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +4 more	GConflicting classifications of pathogenicity
Select item 552866	NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	EYS, PHF3 (T2805fs +1 more)	Duplication (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 438209	NM_001142800.2(EYS):c.8368A>G (p.Arg2790Gly)	EYS, PHF3 (R2790G +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 558485	NM_001142800.2(EYS):c.8168del (p.Gln2723fs)	EYS (Q2744fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554682	NM_001142800.2(EYS):c.8155_8156del (p.His2719fs)	EYS (H2719fs +1 more)	Microsatellite (frameshift variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 558163	NM_001142800.2(EYS):c.8133_8137del (p.Phe2712fs)	EYS (F2712fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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 557040	NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys)	EYS (E2503K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 553024	NM_001142800.2(EYS):c.7229-1G>A	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25 +1 more	GLikely pathogenic
Select item 549918	NM_001142800.2(EYS):c.7205G>A (p.Arg2402Lys)	EYS (R2402K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 554363	NM_001142800.2(EYS):c.7073_7081dup (p.Phe2358_Glu2360dup)	EYS	Duplication (inframe_insertion)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 281325	NM_001142800.2(EYS):c.6794del (p.Pro2265fs)	EYS (P2265fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic
Select item 110791	NM_001142800.2(EYS):c.6726-24613G>T	EYS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 25	GLikely benign
Select item 357699	NM_001142800.2(EYS):c.6714del (p.Ile2239fs)	EYS (I2239fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 555265	NM_001142800.2(EYS):c.6632C>T (p.Ser2211Leu)	EYS (S2211L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 552077	NM_001142800.2(EYS):c.6562A>G (p.Ile2188Val)	EYS (I2188V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity
Select item 553961	NM_001142800.2(EYS):c.6229_6238del (p.Val2077fs)	EYS (V2077fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 93617	NM_001142800.2(EYS):c.5601T>C (p.Ser1867=)	EYS	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity
Select item 195937	NM_001142800.2(EYS):c.5510G>C (p.Trp1837Ser)	EYS (W1837S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 554129	NM_001142800.2(EYS):c.4891C>T (p.Pro1631Ser)	EYS (P1631S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +3 more	GUncertain significance
Select item 195938	NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)	EYS (D1468H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 552610	NM_001142800.2(EYS):c.4393dup (p.Ala1465fs)	EYS (A1465fs)	Duplication (frameshift variant)	Retinitis pigmentosa 25 +2 more	GPathogenic/Likely pathogenic
Select item 551910	NM_001142800.2(EYS):c.3695T>C (p.Ile1232Thr)	EYS (I1232T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 143102	NM_001142800.2(EYS):c.3489T>A (p.Asn1163Lys)	EYS (N1163K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 554359	NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg)	EYS (G1152R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +2 more	GUncertain significance
Select item 195665	NM_001142800.2(EYS):c.3443+1G>T	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 554662	NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)	EYS (T1110S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195666	NM_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)	EYS (T1084P)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 554487	NM_001142800.2(EYS):c.3112_3113insTCTTTGGAACAC (p.Thr1037_His1038insLeuPheGlyThr)	EYS	Microsatellite (inframe_insertion)	Retinitis pigmentosa 25	GUncertain significance
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 554346	NM_001142800.2(EYS):c.2892A>C (p.Glu964Asp)	EYS (E964D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity
Select item 554347	NM_001142800.2(EYS):c.2886C>G (p.Phe962Leu)	EYS (F962L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 194823	NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)	EYS (K938R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 557717	NM_001142800.2(EYS):c.2260-2dup	EYS	Duplication (splice acceptor variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 558511	NM_001142800.2(EYS):c.2259+1G>A	EYS	Single nucleotide variant (splice donor variant)	Retinal dystrophy +2 more	GPathogenic
Select item 438193	NM_001142800.2(EYS):c.2000G>A (p.Arg667His)	EYS (R667H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GUncertain significance
Select item 551873	NM_001142800.2(EYS):c.1852G>A (p.Gly618Ser)	EYS (G618S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 554792	NM_001142800.2(EYS):c.1766+2598del	EYS (Q601fs)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 551672	NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)	EYS (R589G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 551928	NM_001142800.2(EYS):c.1459+5C>T	EYS	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 236447	NM_001142800.2(EYS):c.1155T>A (p.Cys385Ter)	EYS (C385*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 438211	NM_001142800.2(EYS):c.977G>A (p.Ser326Asn)	EYS (S326N)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 357760	NM_001142800.2(EYS):c.-459C>T	EYS	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity

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Items: 53