| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Inborn genetic diseases +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +13 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Senior-Loken syndrome 6 +3 more | |
Click to view in NCBI Gene