| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IRX5, LOC126862355 (A130T) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IRX5, LOC126862355 (N133K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | IRX5, LOC126862355 (E174Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
Click to view in NCBI Gene