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