| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SNHG14, UBE3A (K859fs +8 more) | Deletion (frameshift variant +1 more) | Angelman syndrome | |
| | SNHG14, UBE3A (G391D +8 more) | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | SNHG14, UBE3A (I315T +6 more) | Single nucleotide variant (missense variant +2 more) | Angelman syndrome +1 more | GConflicting classifications of pathogenicity |
| | SNHG14, UBE3A (R276* +3 more) | Single nucleotide variant (nonsense +2 more) | Intellectual disability +1 more | |
| | | Duplication (intron variant +1 more) | Intellectual disability | |
Click to view in NCBI Gene