| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +1 more) | Macrocephaly-developmental delay syndrome | |
| | | Single nucleotide variant (intron variant +1 more) | Macrocephaly-developmental delay syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene