| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not specified | |
| | METTL13, MIR199A2 +68 more | Copy number loss | not specified | |
| | | Duplication | Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 2 | |
| | | Copy number loss | not provided | |
| | | Duplication | Gastrointestinal stromal tumor +2 more | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Deletion | 1q24q25 microdeletion syndrome | |
| | | Copy number gain | See cases | |
| | | 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 loss | See cases | |
| | LOC112577517, TOR1AIP1 +1 more (E62fs) | Deletion (frameshift variant) | Autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| | | Copy number loss | Abnormal esophagus morphology | |
| | | Copy number loss | See cases | |
| | LOC129931453, LOC129931454 +1585 more | Copy number gain | See cases | |
| | LOC129932075, LOC129932076 +560 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | ANGPTL1, APOBEC4 +455 more | Copy number loss | See cases | |
| | LOC129388668, LOC129388669 +477 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |