| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Dilated Cardiomyopathy, Dominant | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | ZNF668-related disorder | |
| | | Single nucleotide variant (missense variant +1 more) | ZNF668-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ZNF668-related disorder | |
| | | Single nucleotide variant (synonymous variant) | ZNF668-related disorder | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Myoepithelial tumor | |
| | | Copy number loss | not specified | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (nonsense) | marked facial dysmorphism +4 more | |
| | | Single nucleotide variant (nonsense) | marked facial dysmorphism +5 more | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Microcephaly | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Branched-chain keto acid dehydrogenase kinase deficiency | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC130058885, LOC130058886 +4 more | Deletion | Generalized epilepsy with febrile seizures plus, type 9 | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Complex | Hemimegalencephaly | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | | Copy number gain | Breast ductal adenocarcinoma | |
| | LOC130058732, LOC130058733 +504 more | Copy number gain | See cases | |
| | ZNF747, ZNF747-DT +378 more | Copy number gain | See cases | |
| | HSD3B7, LOC130058885 +6 more | Copy number loss | See cases | |
| | LOC130058889, LOC130058890 +207 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |