| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (nonsense) | Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene