| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | TMEM201, TMEM240 +806 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129929186, LOC129929187 +577 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +804 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +500 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +505 more | Copy number loss | See cases | |
| | LOC129929300, LOC129929301 +730 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +557 more | Copy number loss | See cases | |
| | PRAMEF7, PRAMEF8 +563 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +387 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +386 more | Copy number loss | See cases | |
| | LOC129929417, LOC129929418 +309 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | AADACL3, AADACL4 +462 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129929360, LOC129929361 +370 more | Copy number loss | See cases | |
| | SLC25A33, LOC120883622 (L12V) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | SLC25A33-related condition | |
| | | 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 (synonymous variant) | SLC25A33-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | SLC25A33-related condition | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (3 prime UTR variant) | SLC25A33-related condition | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | | Deletion | Chromosome 1p36 deletion syndrome | |
| | | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | AADACL3, AADACL4 +143 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | | Copy number loss | Chromosome 1p36 deletion syndrome, proximal | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number loss | See cases | |
| | | Deletion | Neurodevelopmental disorder | |
| | | Copy number loss | not provided | |
| | | 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 | |
| | AADACL3, AADACL4 +212 more | Complex | Breast ductal adenocarcinoma | |
| | C1orf159, C1orf167 +314 more | Complex | Breast ductal adenocarcinoma | |