| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases | |
| | UPK1A, UPK1A-AS1 (E38G +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | UPK1A-AS1, UPK1A (R88H +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | UPK1A, UPK1A-AS1 (T95M +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
Click to view in NCBI Gene