| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Cutis Laxa, Dominant/Recessive +1 more | |
| | | Deletion (5 prime UTR variant) | Cutis Laxa, Dominant/Recessive +2 more | |
Click to view in NCBI Gene