| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Neu-Laxova syndrome 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Epileptic encephalopathy +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene