| | | Copy number loss | not specified | |
| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | | Single nucleotide variant (synonymous variant) | 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 (missense variant) | Inborn genetic diseases | |
| | LOC126805611, TMEM201 (R145S) | 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 | Chromosome 1p36 deletion syndrome | |
| | | Duplication | Charcot-Marie-Tooth disease type 2 | |
| | | 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 | |
| | | 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 | |
| | | 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 | |
| | LOC126805611, TMEM201 (R165Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | 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 | |
| | | Microsatellite (frameshift variant) | not provided | |
| | | Copy number loss | not specified | |
| | | Copy number loss | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | 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 | |
| | | Copy number gain | See cases | |
| | PRAMEF7, PRAMEF8 +563 more | Copy number gain | See cases | |
| | LOC129929300, LOC129929301 +730 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC129929360, LOC129929361 +370 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +557 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +500 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | TMEM201, TMEM240 +806 more | Copy number loss | See cases | |
| | LOC129929417, LOC129929418 +309 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | AADACL3, AADACL4 +462 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +386 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +505 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +804 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +387 more | Copy number gain | See cases | |