| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Tatton-Brown-Rahman overgrowth syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Tatton-Brown-Rahman overgrowth syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Tatton-Brown-Rahman overgrowth syndrome | |
Click to view in NCBI Gene