| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130009528, N4BP2L1 (R31L) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | LOC130009528, N4BP2L1 (P26L) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | LOC130009528, N4BP2L1 (Q20R) | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
Click to view in NCBI Gene