| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Brittle cornea syndrome 2 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | PRDM5-related disorder +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene