| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | Intellectual disability, autosomal dominant 55, with seizures | |
| | | Copy number loss | 6q terminal deletion syndrome | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | Deletion 6q16 q21 | |
| | | Copy number gain | Microcephaly +1 more | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number loss | 6q21-6q22.1 deletion | |
| | | Deletion | Delayed speech and language development +2 more | |
| | LOC129997076, LOC129997077 +460 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC123775388, LOC123775389 +1449 more | Copy number gain | See cases | |
| | LOC129389591, LOC129389592 +558 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |