| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC132088675, LOC132088682 +1585 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
| | | Duplication | Parathyroid carcinoma +2 more | |
| | | Copy number gain | not provided | |
| | SLC16A1, SLC16A4 +2017 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | Chromosome 1q21.1 duplication syndrome | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
Click to view in NCBI Gene