| | C6orf120, PHF10 (S495R +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | C6orf120, PHF10 (A479P +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | C6orf120, PHF10 (H441Y +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures | |
| | | Copy number gain | not provided | |
| | C6orf120, PHF10 (I397T +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | C6orf120, PHF10 (R472L +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | C6orf120, PHF10 (R472H +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | C6orf120, PHF10 (S421F +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | C6orf120, PHF10 (I377L +1 more) | Single nucleotide variant (3 prime UTR variant +1 more) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | Hydrocephalus | |
| | | Copy number loss | Multiple congenital anomalies/dysmorphic syndrome | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Intellectual developmental disorder with seizures and language delay | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Complex | Coffin-Siris syndrome 1 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | C6orf118, C6orf120 +321 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129997707, LOC129997708 +548 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |