| | EXOSC6, LOC130059324 (R206S) | Single nucleotide variant (missense variant) | not specified | |
| | EXOSC6, LOC130059324 (R206H) | Single nucleotide variant (missense variant) | not specified | |
| | | Duplication | Chromosome 16q12 duplication syndrome | |
| | | Deletion | Immunodeficiency | |
| | EXOSC6, LOC130059324 (G224A) | Single nucleotide variant (missense variant) | not specified | |
| | EXOSC6, LOC130059324 (A160T) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | EXOSC6, LOC130059325 (L97H) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number gain | not specified | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | EXOSC6, LOC130059324 (V241L) | Single nucleotide variant (missense variant) | EBV-positive nodal T- and NK-cell lymphoma | |
| | EXOSC6, LOC130059324 (A188T) | Single nucleotide variant (missense variant) | not specified | |
| | EXOSC6, LOC130059324 (G247A) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | EXOSC6, LOC130059324 (L219P) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | EXOSC6, LOC130059324 (Y177C) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Deletion | Dyskeratosis congenita, autosomal dominant 6 | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | EXOSC6, LOC130059324 (A208T) | Single nucleotide variant (missense variant) | not specified | |
| | EXOSC6, LOC130059324 (A168S) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | EXOSC6, LOC130059324 (R201W) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | EXOSC6, LOC130059325 (E73Q) | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Copy number loss | See cases | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not specified | |
| | | Copy number gain | not specified | |
| | | Duplication | Immunodeficiency | |
| | | Copy number loss | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number gain | Abnormal peripheral nervous system morphology | |
| | | Copy number gain | not provided | |
| | | Copy number gain | not provided | |
| | | Copy number loss | Poly (ADP-Ribose) polymerase inhibitor response | |
| | | 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 loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC400541, CLEC18A +4 more | Copy number gain | See cases | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | | Copy number loss | Breast ductal adenocarcinoma | |
| | SLC7A6, SLC7A6OS +324 more | Complex | Breast ductal adenocarcinoma | |
| | LOC130059185, LOC130059186 +869 more | Copy number gain | See cases | |
| | LOC130059149, LOC130059150 +1738 more | Copy number gain | See cases | |
| | LOC130059618, LOC130059619 +1429 more | 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 | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130059197, LOC130059198 +575 more | Copy number gain | See cases | |
| | LOC130059330, LOC130059331 +599 more | Copy number gain | See cases | |