Links from MedGen
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Arthritis, sacroiliac +8 more | |
| | | Single nucleotide variant (missense variant +1 more) | Rheumatoid arthritis +6 more | |
| | | Single nucleotide variant (missense variant) | Frontometaphyseal dysplasia +9 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | NICE approved PARP inhibitor treatment +21 more | |
Click to view in NCBI Gene