| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | See cases | |
| | | Single nucleotide variant (nonsense) | See cases | |
| | | Single nucleotide variant (intron variant) | See cases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Coffin-Siris syndrome 1 +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene