| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (intron variant) | Pyogenic arthritis-pyoderma gangrenosum-acne syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | PSTPIP1-related condition +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene