| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | SNHG14, UBE3A (K859fs +8 more) | Deletion (frameshift variant +1 more) | Angelman syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked intellectual disability-psychosis-macroorchidism syndrome +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Rett syndrome | |
Click to view in NCBI Gene