| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hydrolethalus syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia, Al-Gazali type +3 more | |
| | | Single nucleotide variant (missense variant) | Acrocallosal syndrome +1 more | |
Click to view in NCBI Gene