| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | BCHE-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Syndromic X-linked intellectual disability Najm type | |
Click to view in NCBI Gene