| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC130057143, LOC130057144 +287 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC105370829, LOC108281154 +179 more | Inversion | Aromatase excess syndrome | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | DNAAF4, DNAAF4-CCPG1 +1 more (P364S) | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Deletion | not provided | |
| | | Duplication | Griscelli syndrome type 2 | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | ARPIN-AP3S2, COMMD4 +472 more | Duplication | Familial colorectal cancer +1 more | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Abnormal esophagus morphology | |
Click to view in NCBI Gene