| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | COACH syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +9 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +9 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene