| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | KBG syndrome | |
| | | Single nucleotide variant (synonymous variant) | KBG syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | KBG syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | ANKRD11-related condition +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
Click to view in NCBI Gene