| | | 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 condition | |
| | | 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 | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number loss | 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 | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number loss | See cases | |
| | LOC129930848, LOC129930849 +558 more | Copy number loss | See cases | |
| | LOC126805769, LOC126805770 +548 more | Copy number gain | See cases | |