| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Reynolds syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Reynolds syndrome +4 more | |
| | | Single nucleotide variant (synonymous variant) | Greenberg dysplasia +6 more | |
Click to view in NCBI Gene