| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ALMS1, LOC126806252 (I3986V +1 more) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | ALMS1, LOC126806252 (P3990A +1 more) | Single nucleotide variant (missense variant) | Alstrom syndrome +1 more | |
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