| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 8 +6 more | |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +3 more | |
Click to view in NCBI Gene