| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Cutis laxa with osteodystrophy +1 more | |
| | ATP6V0A2, LOC126861666 (Q645fs) | Deletion (frameshift variant) | Cutis laxa with osteodystrophy | |
Click to view in NCBI Gene