| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number gain | See cases | |
| | CACNA1F, LOC126863257 (T1571P +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CACNA1F, LOC126863257 (Q1625R +2 more) | Single nucleotide variant (missense variant) | not provided | |
| | CACNA1F, LOC126863257 (L1443P +2 more) | Single nucleotide variant (missense variant) | Retinal dystrophy +1 more | |
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