EYS Chromosome 6

EGF-like photoreceptor maintenance factor

1015 variants 1015 Health Risk

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What This Gene Does

The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Associated Conditions (17)

Retinal dystrophy

Retinitis pigmentosa 25

Retinitis pigmentosa

Inborn genetic diseases

Autosomal recessive retinitis pigmentosa

EYS-related disorder

Sarcoma

Hepatocellular carcinoma

Optic atrophy

Cone-rod dystrophy

EYS-related retinopathy

Retinal disorder

Macular dystrophy

Colon adenocarcinoma

Central areolar choroidal dystrophy

Retinitis punctata albescens

Abnormality of the eye

Key Variants

RS1004373312

Conflicting classifications of pathogenicity

Retinal dystrophy, Retinal dystrophy

Health Risk

RS1004559050

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25, Retinitis pigmentosa 25

Health Risk

RS1011193191

Conflicting classifications of pathogenicity

Retinitis pigmentosa, Retinitis pigmentosa

Health Risk

RS1015857165

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25, Retinal dystrophy, Retinitis pigmentosa

Health Risk

RS1044679782

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS1055095941

Conflicting classifications of pathogenicity

Retinitis pigmentosa, Retinitis pigmentosa

Health Risk

RS1064796021

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25, Retinitis pigmentosa 25

Health Risk

RS1064797324

Conflicting classifications of pathogenicity

Retinitis pigmentosa, Retinitis pigmentosa

Health Risk

RS111947397

Conflicting classifications of pathogenicity

Retinitis pigmentosa, Retinitis pigmentosa 25, Retinitis pigmentosa

Health Risk

RS111991705

Conflicting classifications of pathogenicity

Retinitis pigmentosa 25, Retinitis pigmentosa, Retinal dystrophy

Health Risk

RS112609906

Conflicting classifications of pathogenicity

Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa 25

Health Risk

RS112822256

Conflicting classifications of pathogenicity

Retinitis pigmentosa, Retinitis pigmentosa 25, Retinal dystrophy

Health Risk

All Variants (1015)

RSID	Category	Clinical Significance	Conditions
RS772888249	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 25
RS775080539	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinitis pigmentosa 25, Retinitis pigmentosa
RS776654329	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa 25, Inborn genetic diseases, Retinitis pigmentosa 25
RS777735735	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinitis pigmentosa 25, Retinitis pigmentosa
RS778030177	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa 25, Macular dystrophy, Colon adenocarcinoma
RS778077385	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS779012572	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS781359405	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa 25, Retinal dystrophy, Retinitis pigmentosa 25
RS79036642	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa 25, Retinitis pigmentosa, Retinal dystrophy
RS80095433	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinitis pigmentosa 25, Retinal dystrophy
RS868069558	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS886044149	Health Risk	Conflicting classifications of pathogenicity	Retinal dystrophy, Retinitis pigmentosa 25, Retinal dystrophy
RS886044616	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS886061666	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinal dystrophy, Retinitis pigmentosa
RS886061668	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinitis pigmentosa
RS886061671	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinitis pigmentosa
RS886061675	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinitis pigmentosa 25, Retinitis pigmentosa
RS886061678	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinitis pigmentosa
RS886061680	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinitis pigmentosa
RS886061682	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinitis pigmentosa
RS886061683	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinitis pigmentosa
RS886061687	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa
RS888739369	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa 25, Retinitis pigmentosa, Retinitis pigmentosa 25
RS948998853	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa 25, Retinal dystrophy, Retinitis pigmentosa 25
RS961867431	Health Risk	Conflicting classifications of pathogenicity	Inborn genetic diseases, Inborn genetic diseases
RS962496239	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa, Retinitis pigmentosa 25, Retinitis pigmentosa
RS983603381	Health Risk	Conflicting classifications of pathogenicity	Retinal dystrophy, Retinal dystrophy
RS991580368	Health Risk	Conflicting classifications of pathogenicity	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS999155902	Health Risk	Conflicting classifications of pathogenicity	—
RS1158713034	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1167742176	Health Risk	Likely pathogenic	Retinitis pigmentosa, Retinitis pigmentosa
RS1182705193	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1190932109	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1197105310	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1206861190	Health Risk	Likely pathogenic	—
RS1212231432	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1224745720	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy
RS1230668487	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1250121530	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1281424301	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1297699863	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1301470194	Health Risk	Likely pathogenic	—
RS1303686019	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1341636573	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1346842287	Health Risk	Likely pathogenic	Retinitis pigmentosa, Retinitis pigmentosa 25, Retinitis pigmentosa
RS1349089552	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1349879153	Health Risk	Likely pathogenic	Retinitis pigmentosa, Retinitis pigmentosa 25, Retinal dystrophy
RS1363011952	Health Risk	Likely pathogenic	Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1363641203	Health Risk	Likely pathogenic	—
RS1375767063	Health Risk	Likely pathogenic	Retinal dystrophy, Retinal dystrophy

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