| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder, autosomal recessive 77 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Joubert syndrome 25 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene