ClinVar for Gene (Select 346007) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382389	NM_001142800.2(EYS):c.5929C>T (p.Gln1977Ter)	EYS (Q1977*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GPathogenic
Select item 3381792	NM_001142800.2(EYS):c.8050A>C (p.Thr2684Pro)	EYS (T2684P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3381790	NM_001142800.2(EYS):c.5918dup (p.Leu1974fs)	EYS (L1974fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3366482	NC_000006.11:g.(65532716_65596589)_(65707597_65767506)del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 3351053	NM_001142800.2(EYS):c.4330C>T (p.Leu1444Phe)	EYS (L1444F)	Single nucleotide variant (missense variant)	EYS-related disorder	GUncertain significance
Select item 3347056	NM_001142800.2(EYS):c.4913G>C (p.Arg1638Thr)	EYS (R1638T)	Single nucleotide variant (missense variant)	EYS-related disorder	GUncertain significance
Select item 3342103	NM_001142800.2(EYS):c.1201A>G (p.Thr401Ala)	EYS (T401A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339321	NM_001142800.2(EYS):c.2381+3G>A	EYS	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339116	NC_000006.11:g.(65098734_65146066)_(65149246_65300115)del	EYS	Deletion	Retinitis pigmentosa	GPathogenic
Select item 3337996	NM_001142800.2(EYS):c.7923del (p.Gly2642fs)	EYS (G2642fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GPathogenic
Select item 3276909	NM_001142800.2(EYS):c.472C>T (p.Pro158Ser)	EYS (P158S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276908	NM_001142800.2(EYS):c.2553C>A (p.Asn851Lys)	EYS (N851K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276907	NM_001142800.2(EYS):c.3872A>C (p.Asp1291Ala)	EYS (D1291A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276906	NM_001142800.2(EYS):c.50C>G (p.Ser17Cys)	EYS (S17C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276904	NM_001142800.2(EYS):c.1723T>C (p.Cys575Arg)	EYS (C575R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276903	NM_001142800.2(EYS):c.1558A>G (p.Asn520Asp)	EYS (N520D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276902	NM_001142800.2(EYS):c.1927G>T (p.Asp643Tyr)	EYS (D643Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276901	NM_001142800.2(EYS):c.7540G>A (p.Val2514Ile)	EYS (V2514I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276900	NM_001142800.2(EYS):c.2777A>C (p.Glu926Ala)	EYS (E926A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276899	NM_001142800.2(EYS):c.3683T>C (p.Met1228Thr)	EYS (M1228T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276898	NM_001142800.2(EYS):c.5036T>C (p.Met1679Thr)	EYS (M1679T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276896	NM_001142800.2(EYS):c.6378C>G (p.Phe2126Leu)	EYS (F2126L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251429	NM_001142800.2(EYS):c.5886T>C (p.Thr1962=)	EYS	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3246148	NC_000006.11:g.(?_66204859)_(66217229_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246147	NC_000006.11:g.(?_64511633)_(64516181_?)del	EYS	Deletion	not provided	GLikely pathogenic
Select item 3246146	NC_000006.11:g.(?_65523280)_(65527746_?)del	EYS	Deletion	not provided	GLikely pathogenic
Select item 3246145	NC_000006.11:g.(?_65587645)_(65596716_?)del	EYS	Deletion	not provided	GLikely pathogenic
Select item 3246143	NC_000006.11:g.(?_66094259)_(66115280_?)dup	EYS	Duplication	not provided	GLikely pathogenic
Select item 3246142	NC_000006.11:g.(?_65146047)_(65149265_?)dup	EYS	Duplication	not provided	GPathogenic
Select item 3246141	NC_000006.11:g.(?_65300096)_(65336158_?)dup	EYS	Duplication	not provided	GLikely pathogenic
Select item 3246140	NC_000006.11:g.(?_66005736)_(66349785_?)dup	EYS	Duplication	not provided	GUncertain significance
Select item 3246139	NC_000006.11:g.(?_65300096)_(65596755_?)dup	EYS	Duplication	not provided	GLikely pathogenic
Select item 3246138	NC_000006.11:g.(?_65596570)_(65622656_?)dup	EYS	Duplication	not provided	GLikely pathogenic
Select item 3246137	NC_000006.11:g.(?_65523251)_(65767640_?)dup	EYS	Duplication	not provided	GPathogenic
Select item 3246136	NC_000006.11:g.(?_66112351)_(66112518_?)dup	EYS	Duplication	not provided	GLikely pathogenic
Select item 3246135	NC_000006.11:g.(?_64574059)_(64574271_?)dup	EYS	Duplication	not provided	GLikely pathogenic
Select item 3246134	NC_000006.11:g.(?_64708948)_(64709096_?)dup	EYS	Duplication	not provided	GLikely pathogenic
Select item 3246132	NC_000006.11:g.(?_64776211)_(64776404_?)dup	EYS	Duplication	not provided	GLikely pathogenic
Select item 3246131	NC_000006.11:g.(?_64940465)_(64940737_?)dup	EYS	Duplication	not provided	GLikely pathogenic
Select item 3246130	NC_000006.11:g.(?_65523251)_(65523490_?)dup	EYS	Duplication	not provided	GLikely pathogenic
Select item 3246129	NC_000006.11:g.(?_65596570)_(65596755_?)dup	EYS	Duplication	not provided	GLikely pathogenic
Select item 3246128	NC_000006.11:g.(?_66005746)_(66063530_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246127	NC_000006.11:g.(?_66094259)_(66115280_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246126	NC_000006.11:g.(?_66053911)_(66115280_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246125	NC_000006.11:g.(?_66094259)_(66200620_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246124	NC_000006.11:g.(?_64472334)_(64574271_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246123	NC_000006.11:g.(?_64487879)_(64709096_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246120	NC_000006.11:g.(?_64487879)_(64791915_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246119	NC_000006.11:g.(?_64574059)_(64791915_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246118	NC_000006.11:g.(?_66200467)_(66205886_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246117	NC_000006.11:g.(?_65300096)_(66205886_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246116	NC_000006.11:g.(?_65596570)_(66205886_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246115	NC_000006.11:g.(?_65655666)_(66205886_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246114	NC_000006.11:g.(?_66005736)_(66205886_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246113	NC_000006.11:g.(?_65016843)_(65149265_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246112	NC_000006.11:g.(?_64940465)_(65336158_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246111	NC_000006.11:g.(?_65531518)_(65532735_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246109	NC_000006.11:g.(?_65611986)_(65622656_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246108	NC_000006.11:g.(?_65596570)_(65655827_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246107	NC_000006.11:g.(?_65523251)_(65707616_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246106	NC_000006.11:g.(?_65596570)_(65707616_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246105	NC_000006.11:g.(?_65655666)_(65707616_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246104	NC_000006.11:g.(?_65596570)_(65767640_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246103	NC_000006.11:g.(?_65655666)_(65767640_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246102	NC_000006.11:g.(?_65767487)_(66006022_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246101	NC_000006.11:g.(?_64694256)_(66417118_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246100	NC_000006.11:g.(?_65523251)_(66417118_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246098	NC_000006.11:g.(?_65622357)_(66417118_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246097	NC_000006.11:g.(?_64472344)_(64472536_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246096	NC_000006.11:g.(?_64776211)_(64776404_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246095	NC_000006.11:g.(?_64791729)_(64791915_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246094	NC_000006.11:g.(?_64940475)_(64940727_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246093	NC_000006.11:g.(?_65146047)_(65146178_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246092	NC_000006.11:g.(?_65327291)_(65327446_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246091	NC_000006.11:g.(?_65523251)_(65523490_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246090	NC_000006.11:g.(?_65655666)_(65655827_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3246089	NC_000006.11:g.(?_65707455)_(65707616_?)del	EYS	Deletion	not provided	GPathogenic
Select item 3241516	NM_001142800.2(EYS):c.2522dup (p.Tyr841Ter)	EYS (Y841*)	Duplication (nonsense)	Retinitis pigmentosa 25	GPathogenic
Select item 3241515	NM_001142800.2(EYS):c.6115del (p.Glu2039fs)	EYS (E2039fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241514	NM_001142800.2(EYS):c.4510C>T (p.Gln1504Ter)	EYS (Q1504*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241513	NM_001142800.2(EYS):c.3244-1G>T	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241512	NM_001142800.2(EYS):c.3685-1G>T	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241511	NM_001142800.2(EYS):c.8652C>A (p.Cys2884Ter)	EYS, PHF3 (C2884* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241510	NM_001142800.2(EYS):c.863-21_872delinsTTTCT	EYS	Indel (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241509	NM_001142800.2(EYS):c.1185-1G>A	EYS	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241508	NM_001142800.2(EYS):c.6102_6104delinsAT (p.Phe2034fs)	EYS (F2034fs)	Indel (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241507	NM_001142800.2(EYS):c.4712C>A (p.Ser1571Ter)	EYS (S1571*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241506	NM_001142800.2(EYS):c.2326A>T (p.Lys776Ter)	EYS (K776*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241505	NM_001142800.2(EYS):c.5983del (p.Ile1995fs)	EYS (I1995fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241504	NM_001142800.2(EYS):c.8236del (p.Asp2746fs)	EYS, PHF3 (D2746fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241503	NM_001142800.2(EYS):c.479del (p.Pro160fs)	EYS (P160fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241502	NM_001142800.2(EYS):c.3201_3205del (p.Asp1068fs)	EYS (D1068fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241501	NM_001142800.2(EYS):c.8573del (p.Leu2858fs)	EYS, PHF3 (L2858fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241500	NM_001142800.2(EYS):c.4245_4246del (p.Gln1415fs)	EYS (Q1415fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GPathogenic
Select item 3241499	NM_001142800.2(EYS):c.7028_7033delinsAT (p.Leu2343fs)	EYS (L2343fs)	Indel (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241498	NM_001142800.2(EYS):c.1127C>A (p.Ser376Ter)	EYS (S376*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241497	NM_001142800.2(EYS):c.1272del (p.Trp424fs)	EYS (W424fs)	Deletion (frameshift variant)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241496	NM_001142800.2(EYS):c.5806C>T (p.Gln1936Ter)	EYS (Q1936*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241495	NM_001142800.2(EYS):c.8971del (p.Thr2991fs)	EYS, PHF3 (T2991fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 3241494	NM_001142800.2(EYS):c.9278del (p.Gly3093fs)	EYS, PHF3 (G3093fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic

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