| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | RHYNS syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Familial aplasia of the vermis +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Nephronophthisis 11 +11 more | |
| | | 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 |
| | | Single nucleotide variant (missense variant +1 more) | Meckel syndrome, type 3 +23 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | RHYNS syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Meckel-Gruber syndrome +26 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion +1 more) | Nystagmus +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | RHYNS syndrome | |
Click to view in NCBI Gene