| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and dysmorphic facies | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with hypotonia and dysmorphic facies +2 more | |
Click to view in NCBI Gene