| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | Temple-Baraitser syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Zimmermann-Laband syndrome 1 +4 more | GPathogenic/Likely pathogenic |
| | | Duplication (intron variant) | Zimmermann-Laband syndrome 1 +2 more | |
| | | Deletion (intron variant) | Temple-Baraitser syndrome +2 more | |
Click to view in NCBI Gene