| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126862326, NUPR1 (G97E +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862326, NUPR1 (R75S +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862326, NUPR1 (E74K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862326, NUPR1 (E63K +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126862326, NUPR1 (R45C +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
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