| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +2 more) | Inborn genetic diseases +4 more | GConflicting classifications of pathogenicity |
| | GOSR2, LRRC37A2 (T108P +2 more) | Single nucleotide variant (missense variant +1 more) | Progressive myoclonic epilepsy +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene