| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | McKusick-Kaufman syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | MKKS-related condition +6 more | |
Click to view in NCBI Gene