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Variant Pathogenicity
RPE65
Name
RPE65
HGNC ID
HGNC:10294
Cytogenetic Location
1p31.3
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ClinVar Variants
RPE65
-
retinitis pigmentosa 20
| MONDO:0013425
Curated by
Classification
Date
Report
Gene-Disease Validity
Moderate
03/05/2018
View report
Clinical Actionability
View report for scoring details
03/22/2019
View report
RPE65
-
Leber congenital amaurosis 2
| MONDO:0008765
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
02/13/2018
View report
Clinical Actionability
View report for scoring details
03/22/2019
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
| MONDO:0018998
Curated by
Classification
Date
Report
Gene-Disease Validity
Definitive
02/13/2018
View report
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Clinical Actionability