| | LOC129388541, LOC129388542 +570 more | Copy number gain | See cases | |
| | LOC129930559, LOC129930560 +422 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129930848, LOC129930849 +558 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126805749, LOC126805750 +331 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129930737, LOC129930738 +90 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129930731, LOC129930732 +165 more | Copy number loss | See cases | |
| | | Duplication | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +2 more) | 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 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC129388544, LOC129930727 +2 more (S344P +5 more) | Single nucleotide variant (missense variant) | not provided | |
| | LOC129388544, MIER1 +1 more (T460I +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129388544, MIER1 +1 more (L430F +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | LOC129388544, MIER1 +1 more (A458T +4 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Deletion | not provided | |
| | | Deletion | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Deletion | Intellectual disability, severe | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |