"Fulgent Genetics, Fulgent Genetics"[submitter] AND "EYS"[gene] - ClinVar

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Items: 71

	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 +4 more	GPathogenic/Likely pathogenic
Select item 802230	NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)	EYS, PHF3 (T3100fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +4 more	GPathogenic/Likely pathogenic
Select item 289906	NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	EYS, PHF3 (V3117fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 970888	NM_001142800.2(EYS):c.8999T>C (p.Ile3000Thr)	EYS, PHF3 (I3000T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 599165	NM_001142800.2(EYS):c.8830del (p.Val2944fs)	EYS, PHF3 (V2944fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1057358	NM_001142800.2(EYS):c.8793A>G (p.Gln2931=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 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)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 855995	NM_001142800.2(EYS):c.8207C>T (p.Ala2736Val)	EYS (A2736V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 990439	NM_001142800.2(EYS):c.8182G>A (p.Ala2728Thr)	EYS (A2728T +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +2 more	GUncertain significance
Select item 558485	NM_001142800.2(EYS):c.8168del (p.Gln2723fs)	EYS (Q2744fs +1 more)	Deletion (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 853127	NM_001142800.2(EYS):c.8107G>T (p.Glu2703Ter)	EYS (E2703* +1 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 598124	NM_001142800.2(EYS):c.8003G>T (p.Cys2668Phe)	EYS (C2668F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1076301	NM_001142800.2(EYS):c.7970del (p.Asp2657fs)	EYS (D2657fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 636169	NM_001142800.2(EYS):c.7949C>T (p.Ser2650Phe)	EYS (S2650F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 1487447	NM_001142800.2(EYS):c.7826G>C (p.Cys2609Ser)	EYS (C2609S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 624250	NM_001142800.2(EYS):c.7751C>G (p.Thr2584Ser)	EYS (T2584S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 729277	NM_001142800.2(EYS):c.7723+9T>C	EYS	Single nucleotide variant (intron variant)	Retinitis pigmentosa 25 +2 more	GLikely benign
Select item 557040	NM_001142800.2(EYS):c.7507G>A (p.Glu2503Lys)	EYS (E2503K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 991096	NM_001142800.2(EYS):c.7171G>A (p.Gly2391Arg)	EYS (G2391R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 991099	NM_001142800.2(EYS):c.7117G>A (p.Ala2373Thr)	EYS (A2373T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 93621	NM_001142800.2(EYS):c.7095T>G (p.Tyr2365Ter)	EYS (Y2365*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 402227	NM_001142800.2(EYS):c.6976C>T (p.Arg2326Ter)	EYS (R2326*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 357696	NM_001142800.2(EYS):c.6934C>T (p.Leu2312Phe)	EYS (L2312F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 991102	NM_001142800.2(EYS):c.6876T>C (p.Asn2292=)	EYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 991104	NM_001142800.2(EYS):c.6824A>G (p.His2275Arg)	EYS (H2275R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 357699	NM_001142800.2(EYS):c.6714del (p.Ile2239fs)	EYS (I2239fs)	Deletion (frameshift variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 991108	NM_001142800.2(EYS):c.6575A>G (p.Asn2192Ser)	EYS (N2192S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GConflicting classifications of pathogenicity
Select item 438204	NM_001142800.2(EYS):c.6473T>C (p.Leu2158Pro)	EYS (L2158P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GConflicting classifications of pathogenicity
Select item 991109	NM_001142800.2(EYS):c.6446C>A (p.Ser2149Tyr)	EYS (S2149Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 560459	NM_001142800.2(EYS):c.6050G>T (p.Gly2017Val)	EYS (G2017V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 992116	NM_001142800.2(EYS):c.5975A>G (p.Asn1992Ser)	EYS (N1992S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 438200	NM_001142800.2(EYS):c.5928-2A>G	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25 +3 more	GPathogenic
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 195936	NM_001142800.2(EYS):c.4350_4356del (p.Ile1451fs)	EYS (I1451fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 846934	NM_001142800.2(EYS):c.3970del (p.Leu1324fs)	EYS (L1324fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 624253	NM_001142800.2(EYS):c.3878-2A>G	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25 +1 more	GLikely 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 841943	NM_001142800.2(EYS):c.3694A>T (p.Ile1232Phe)	EYS (I1232F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +2 more	GUncertain significance
Select item 990043	NM_001142800.2(EYS):c.3634T>C (p.Cys1212Arg)	EYS (C1212R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 990044	NM_001142800.2(EYS):c.3542A>G (p.Asn1181Ser)	EYS (N1181S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 554359	NM_001142800.2(EYS):c.3454G>A (p.Gly1152Arg)	EYS (G1152R)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 1164229	NM_001142800.2(EYS):c.3444-15del	EYS	Deletion (intron variant)	Retinitis pigmentosa 25 +1 more	GBenign/Likely benign
Select item 990050	NM_001142800.2(EYS):c.3293C>A (p.Ala1098Glu)	EYS (A1098E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 1165968	NM_001142800.2(EYS):c.3164+8dup	EYS	Duplication (intron variant)	Retinitis pigmentosa 25 +1 more	GBenign/Likely benign
Select item 1297160	NM_001142800.2(EYS):c.3164+1G>A	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 25 +2 more	GPathogenic/Likely pathogenic
Select item 966980	NM_001142800.2(EYS):c.3024C>A (p.Cys1008Ter)	EYS (C1008*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 438195	NM_001142800.2(EYS):c.2976T>A (p.Cys992Ter)	EYS (C992*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GPathogenic
Select item 990482	NM_001142800.2(EYS):c.2936A>C (p.Glu979Ala)	EYS (E979A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 194823	NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg)	EYS (K938R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 866582	NM_001142800.2(EYS):c.2545C>T (p.Arg849Cys)	EYS (R849C)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 844255	NM_001142800.2(EYS):c.2259C>T (p.Leu753=)	EYS	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194358	NM_001142800.2(EYS):c.2194C>T (p.Gln732Ter)	EYS (Q732*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 421249	NM_001142800.2(EYS):c.2137+1G>A	EYS	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity
Select item 438193	NM_001142800.2(EYS):c.2000G>A (p.Arg667His)	EYS (R667H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +3 more	GUncertain significance
Select item 990486	NM_001142800.2(EYS):c.1973G>C (p.Ser658Thr)	EYS (S658T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 812318	NM_001142800.2(EYS):c.1961dup (p.Asn654fs)	EYS (N654fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 851095	NM_001142800.2(EYS):c.1748A>C (p.Asp583Ala)	EYS (D583A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 846445	NM_001142800.2(EYS):c.1483G>C (p.Gly495Arg)	EYS (G495R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GUncertain significance
Select item 990492	NM_001142800.2(EYS):c.1462T>G (p.Ser488Ala)	EYS (S488A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 991142	NM_001142800.2(EYS):c.1314A>G (p.Pro438=)	EYS	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 778341	NM_001142800.2(EYS):c.1253A>G (p.Asn418Ser)	EYS (N418S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +1 more	GLikely benign
Select item 1429597	NM_001142800.2(EYS):c.1247G>A (p.Ser416Asn)	EYS (S416N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 357742	NM_001142800.2(EYS):c.1218G>T (p.Glu406Asp)	EYS (E406D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +3 more	GUncertain significance
Select item 991144	NM_001142800.2(EYS):c.953A>C (p.Tyr318Ser)	EYS (Y318S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25	GUncertain significance
Select item 1047152	NM_001142800.2(EYS):c.853C>A (p.Gln285Lys)	EYS (Q285K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 813182	NM_001142800.2(EYS):c.749-1G>C	EYS	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 855639	NM_001142800.2(EYS):c.525_527del (p.Glu176del)	EYS (E176del)	Deletion (inframe_deletion)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity
Select item 197186	NM_001142800.2(EYS):c.490C>T (p.Arg164Ter)	EYS (R164*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 812320	NM_001142800.2(EYS):c.403_423delinsCTTTT (p.Thr135fs)	EYS (T135fs)	Indel (frameshift variant)	not provided +1 more	GPathogenic
Select item 910891	NM_001142800.2(EYS):c.77G>A (p.Arg26Gln)	EYS (R26Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 25 +3 more	GConflicting classifications of pathogenicity

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Items: 71