| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | SNORA100, SPMIP3 +274 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | LINC01743, LINC02774 +235 more | Copy number loss | Intellectual disability, autosomal dominant 22 | |
| | | Single nucleotide variant (5 prime UTR variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not provided | |
| | | 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 (intron 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 (5 prime UTR 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 | Developmental and epileptic encephalopathy, 54 | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Duplication | Paragangliomas 3 +2 more | |
| | | Copy number loss | not provided | |
| | | Copy number gain | See cases | |
| | C1orf35, C1orf74 +320 more | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | CATSPERE, OR2T11 +114 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | Malignant tumor of prostate | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129388813, LOC129932956 +14 more | Copy number gain | See cases | |
| | GCSAML, GCSAML-AS1 +49 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC126806088, LOC129388812 +27 more | Copy number gain | See cases | |
| | LOC129388812, LOC129388813 +22 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC115804254, LOC126806088 +36 more | Copy number gain | See cases | |
| | LOC115804254, LOC126806088 +39 more | Copy number gain | See cases | |
| | LOC102724446, LOC115804254 +39 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | GCSAML, GCSAML-AS1 +49 more | Copy number gain | See cases | |
| | LOC122152349, LOC122152350 +272 more | Copy number loss | See cases | |
| | LOC122152355, LOC122152356 +230 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC115804254, LOC126806088 +31 more | Copy number gain | See cases | |
| | LOC126806088, LOC129388812 +10 more | Copy number gain | See cases | |
| | LOC129932702, LOC129932703 +954 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LOC129932493, LOC129932494 +1325 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |