ClinGen Knowledge Base | Clinical Genome Resource

RPE65

Name: RPE65
HGNC ID: HGNC:10294
Cytogenetic Location: 1p31.3

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ClinVar Variants: View ClinVar Variants
GeneReviews®: View GeneReviews

RPE65 - retinitis pigmentosa 20 | MONDO:0013425

Curated by	Classification	Date	Report
Gene-Disease Validity	Moderate	03/05/2018	View report

RPE65 - retinitis pigmentosa | MONDO:0019200

Curated by	Classification	Date	Report
Gene-Disease Validity	Moderate	03/05/2018	View report

RPE65 - Leber congenital amaurosis 2 | MONDO:0008765

Curated by	Classification	Date	Report
Gene-Disease Validity	Definitive	02/13/2018	View report

RPE65 - Leber congenital amaurosis | MONDO:0018998

Curated by	Classification	Date	Report
Gene-Disease Validity	Definitive	02/13/2018	View report

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