| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | UBE4A-related condition +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC100131626, UBE4A (R640C +1 more) | Single nucleotide variant (non-coding transcript variant +1 more) | Inborn genetic diseases | |
| | LOC100131626, UBE4A (L691P +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC100131626, UBE4A (R705Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC100131626, UBE4A (R818Q +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | UBE4A, LOC100131626 (C936Y +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC100131626, UBE4A (M1004L +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC100131626, UBE4A (R1053W +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |