| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Inborn genetic diseases +5 more | |
| | | Deletion (frameshift variant) | Phelan-McDermid syndrome +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene