| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Kidney disorder +4 more | |
| | | Single nucleotide variant (missense variant) | Familial aplasia of the vermis +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Microsatellite (frameshift variant) | Retinal dystrophy +6 more | |
| | | Single nucleotide variant (missense variant) | Meckel syndrome, type 4 +11 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 14 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
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