| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Brainstem glioma +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Gastric adenocarcinoma +1 more | |
| | | Single nucleotide variant (missense variant) | Progressive myositis ossificans | |
Click to view in NCBI Gene