| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Macrocephaly-developmental delay syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly-developmental delay syndrome | |
| | | Duplication (inframe_insertion +1 more) | KPTN-related condition +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene