| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | PHARC syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | ABHD12, LOC126863008 (G207V) | Single nucleotide variant (missense variant) | not provided +1 more | |
Click to view in NCBI Gene