| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (inframe_deletion) | Marshall-Smith syndrome | |
| | | Single nucleotide variant (missense variant) | Malan overgrowth syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marshall-Smith syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Malan overgrowth syndrome | |
Click to view in NCBI Gene