| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | SNHG14, UBE3A (K439fs +8 more) | Deletion (frameshift variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | SNHG14, UBE3A (Y412* +8 more) | Single nucleotide variant (nonsense +1 more) | Angelman syndrome | |
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