| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130060077, LOC130060078
+911 more | Copy number gain | Chromosome 17p13.3 duplication syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa | |
| | | Microsatellite (inframe_deletion) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Retinitis pigmentosa | GConflicting classifications of pathogenicity |
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