| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Neuronal ceroid lipofuscinosis 2 +4 more | |
| | SNHG14, UBE3A (M317L +3 more) | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | SNHG14, UBE3A (N252S +3 more) | Single nucleotide variant (missense variant +2 more) | Angelman syndrome | |
| | SNHG14, UBE3A (T103A +3 more) | Single nucleotide variant (missense variant +2 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | X-linked intellectual disability-psychosis-macroorchidism syndrome +9 more | GPathogenic/Likely pathogenic |
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