| | LOC129929105, LOC129929106 +2149 more | Copy number gain | Trisomy 12p | |
| | 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 +386 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +462 more | Copy number loss | See cases | |
| | LOC129929360, LOC129929361 +370 more | Copy number loss | See cases | |
| | LOC110120623, LOC110120648 +361 more | Duplication | not specified | |
| | AADACL3, AADACL4 +304 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +337 more | Copy number loss | See cases | |
| | LOC112577504, LOC112577505 +316 more | Copy number loss | See cases | |
| | AADACL3, AADACL4 +209 more | Copy number gain | See cases | |
| | AADACL3, AADACL4 +288 more | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | HNRNPCL1, HNRNPCL3 +11 more | Copy number loss | See cases | |
| | HNRNPCL1, LINC01784 +2 more | Copy number loss | See cases | |
| | HNRNPCL2, HNRNPCL3 +17 more | Copy number loss | See cases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | LOC126805622, PRAMEF2 (L105*) | Single nucleotide variant (nonsense) | not provided | |
| | LOC126805622, PRAMEF2 (R106W) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (D107Y) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (D107E) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (P117S) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126805622, PRAMEF2 (P117R) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126805622, PRAMEF2 (A119S) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126805622, PRAMEF2 (W120R) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126805622, PRAMEF2 (F125S) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126805622, PRAMEF2 (A128T) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126805622, PRAMEF2 (S130N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (C138R) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126805622, PRAMEF2 (T141A) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126805622, PRAMEF2 (T141K) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | PRAMEF2, LOC126805622 (F150L) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126805622, PRAMEF2 (I153L) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | LOC126805622, PRAMEF2 (N187S) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126805622, PRAMEF2 (K197N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (N205S) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (L210R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (V238I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (V238G) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (T246R) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (E252Q) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (L266P) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | PRAMEF2, LOC126805622 (I277M) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (T278I) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | LOC126805622, PRAMEF2 (T278N) | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (intron 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 | |
| | | 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) | not specified | |
| | | 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) | Bladder exstrophy-epispadias-cloacal extrophy complex | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | 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 | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Deletion | Chromosome 1p36 deletion syndrome | |
| | AADACL3, AADACL4 +143 more | Copy number loss | not provided | |
| | | Copy number loss | not provided | |
| | ANGPTL7, C1orf127 +783 more | Copy number gain | Intellectual disability, mild +1 more | |
| | | Copy number loss | See cases | |
| | | 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 gain | See cases | |
| | | Copy number loss | See cases | |
| | AADACL3, AADACL4 +212 more | Complex | Breast ductal adenocarcinoma | |
| | C1orf159, C1orf167 +314 more | Complex | Breast ductal adenocarcinoma | |