| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | |
| | | Deletion (frameshift variant) | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome | |
| | | Single nucleotide variant (nonsense) | Marfanoid habitus and intellectual disability | |
Click to view in NCBI Gene