| | | Deletion | Emery-Dreifuss muscular dystrophy 4, autosomal dominant +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not provided | |
| | LOC129997480, LOC129997522 +288 more | Deletion | Chromosome 6q24-q25 deletion syndrome | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | Coffin-Siris syndrome 1 | |
| | | 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 | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Complex | Coffin-Siris syndrome 1 | |
| | | Deletion | Autosomal recessive ataxia, Beauce type +1 more | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129997450, LOC129997451 +1002 more | Copy number gain | See cases | |
| | LOC101929460, LOC102724087 +572 more | Copy number gain | See cases | |
| | LOC129997640, LOC129997641 +564 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129389692, LOC129389693 +614 more | Copy number gain | See cases | |
| | LOC129389719, LOC129389720 +866 more | Copy number gain | See cases | |