| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Duplication | Proteasome-associated autoinflammatory syndrome 1 | |
| | | Duplication | not provided | |
| | | Copy number gain | not specified | |
| | | Deletion | Megacolon | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Duplication | Preeclampsia | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (non-coding transcript variant) | Abacavir hypersensitivity +2 more | GPathogenic/Likely risk allele; risk factor |
Click to view in NCBI Gene