| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | O'Donnell-Luria-Rodan syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Aortic root aneurysm +13 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (missense variant) | Chronic obstructive pulmonary disease +7 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder | |
| | | Single nucleotide variant (nonsense) | Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome +2 more | |
| | | Single nucleotide variant (splice donor variant) | Metachromatic leukodystrophy +5 more | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder +2 more | GPathogenic/Likely pathogenic/Likely risk allele |
| | | Single nucleotide variant (nonsense) | not provided +3 more | |
Click to view in NCBI Gene