| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | KBG syndrome +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | KBG syndrome | |
| | | Deletion (frameshift variant) | KBG syndrome | |
| | | Single nucleotide variant (missense variant) | KBG syndrome | |
| | | Duplication (inframe_insertion) | Seizure +1 more | |
| | | Single nucleotide variant (missense variant) | KBG syndrome | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | not provided +11 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | KBG syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | KBG syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene