| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Microsatellite (frameshift variant) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | KBG syndrome | |
| | | Deletion (splice donor variant) | KBG syndrome | |
Click to view in NCBI Gene