| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Developmental and epileptic encephalopathy, 35 | |
| | | Single nucleotide variant (splice acceptor variant) | Inosine triphosphatase deficiency +1 more | GPathogenic/Likely pathogenic |
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