| | LOC130005622, LOC130005623 +224 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC130005585, LOC130005586 +258 more | Copy number loss | See cases | |
| | | 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 | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Leukocyte adhesion deficiency type II | |
| | | Copy number gain | See cases | |
| | | Copy number gain | MISSED ABORTION | |
| | | Copy number loss | not specified | |
| | | Duplication | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | Leukocyte adhesion deficiency type II | |
| | | Deletion | Intellectual disability | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Duplication | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Short philtrum +4 more | |
| | | Copy number gain | See cases | |
| | AAMDC, AASDHPPT +1289 more | Copy number gain | See cases | |