| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC132090059, PUS1 (R94Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | LOC132090059, PUS1 (D105N +1 more) | Single nucleotide variant (missense variant) | PUS1-related disorder +3 more | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | |
Click to view in NCBI Gene