| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC125384566, LOC130065345
+5 more | Deletion | Cone-rod dystrophy | |
| | LOC130065345, PANK2 (G126A +1 more) | Single nucleotide variant (5 prime UTR variant +3 more) | Pigmentary pallidal degeneration +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Pigmentary pallidal degeneration | |
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