| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Sudden unexplained death in childhood +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (inframe_deletion) | KBG syndrome | |
| | | Duplication (frameshift variant) | KBG syndrome | |
Click to view in NCBI Gene