| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | AP4M1-related condition +1 more | |
| | ST7, ST7-AS2 (Y163* +3 more) | Single nucleotide variant (nonsense +1 more) | Global developmental delay +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | WWOX-related condition +4 more | |
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