| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | Cardioacrofacial dysplasia 2 | |
| | | Single nucleotide variant (missense variant +1 more) | PRKACB-related disorder | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Cardioacrofacial dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | Cardioacrofacial dysplasia 2 | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Cardioacrofacial dysplasia 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Cardioacrofacial dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | Cardioacrofacial dysplasia 2 | |
| | | Single nucleotide variant (missense variant) | Cardioacrofacial dysplasia 2 | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | Delayed speech and language development | |
| | | Copy number gain | Global developmental delay +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | GPATCH2, GPATCH3 +2014 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number loss | See cases | |
| | LOC132088736, LOC132088737 +557 more | Copy number loss | See cases | |
| | LINC01708, LINC01709 +549 more | Copy number gain | See cases | |