| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | ALMS1-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Alstrom syndrome | |
| | | Single nucleotide variant (missense variant) | Alstrom syndrome | |
| | | Single nucleotide variant (missense variant) | Alstrom syndrome +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene