The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene label mismatch: RPE65 vs undefined
- No ClinVar Id was directly found from the curated document
- No CSPEC computed assertion could be determined for this classification!
- Curation Version - 1.0
- Curation History
- JSON LD for Version 1.0
CA523302413
Gene: RPE65
Condition: RPE65-related recessive retinopathy
Inheritance Mode: Autosomal recessive inheritance
UUID: 9e5e00db-a323-429a-9532-94b659842f88
Approved on: 2025-03-27
Published on: 2025-03-27
HGVS expressions
NM_000329.3:c.106del
NC_000001.11:g.68446853del
CM000663.2:g.68446853del
NC_000001.10:g.68912536del
CM000663.1:g.68912536del
NC_000001.9:g.68685124del
NG_008472.1:g.8111del
NG_008472.2:g.8111del
ENST00000262340.6:c.106del
ENST00000262340.5:c.106del
NM_000329.2:c.106del
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Evidence submitted by expert panel
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