| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CMTM3, CMTM4 +1 more (E48D) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Duplication | Chromosome 16q12 duplication syndrome | |
| | CMTM3, CMTM4 +1 more (R28C) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CMTM3, CMTM4 +1 more (P14T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number loss | not specified | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | CMTM3, CMTM4 +1 more (A29T) | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Deletion | not provided | |
| | | Deletion | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not specified | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | not provided | |
| | CKLF-CMTM1, CMTM4 +10 more | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | KCTD19, KIAA0513 +368 more | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | Copy number gain | See cases | |
| | | Copy number gain | 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 | Breast ductal adenocarcinoma | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Complex | Breast ductal adenocarcinoma | |
| | LOC130059125, LOC130059126 +675 more | Copy number gain | See cases | |
| | LOC130059420, LOC130059421 +869 more | Copy number gain | See cases | |
| | MIR138-2, MIR140 +1738 more | Copy number gain | See cases | |
| | LOC130059829, LOC130059830 +1429 more | Copy number gain | See cases | |
| | LOC130059834, LOC130059835 +1424 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | ATP6V0D1, B3GNT9 +113 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC108281164, LOC109029536 +1426 more | Copy number gain | See cases | |
| | LOC130059197, LOC130059198 +575 more | Copy number gain | See cases | |
| | LOC130059330, LOC130059331 +599 more | Copy number gain | See cases | |