| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | JPT1, LOC126862639 (A63V +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | JPT1, LOC126862639 (M1T +1 more) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
Click to view in NCBI Gene