| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Familial aplasia of the vermis +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Meckel-Gruber syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Meckel-Gruber syndrome +7 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +5 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene