| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Schneckenbecken dysplasia +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (intron variant) | Schneckenbecken dysplasia +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene