| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | LOC129929694, LOC129929695 +4 more | Copy number gain | See cases | |
| | LOC129929694, LOC129929695 +4 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided | |
| | | Duplication | Deficiency of hydroxymethylglutaryl-CoA lyase | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number gain | not provided | |
| | SLC16A1, SLC16A4 +2017 more | Copy number gain | not provided | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Complex | Breast ductal adenocarcinoma | |
| | C1orf159, C1orf167 +314 more | Complex | Breast ductal adenocarcinoma | |
Click to view in NCBI Gene