Table 7. Patients carrying more than one pathogenic/likely pathogenic variant.
| Diagnosis of the patient | Gene | Variant | Protein | Gene | Variant | Protein | Gene | Variant | Protein |
|---|---|---|---|---|---|---|---|---|---|
| Malignant peripheral nerve sheath tumor | NF1 | c.61-22171_4110+2458del (deletion of exon 2–30) | p.(Leu21_Gln1370del) | PALB2 | c.2736G>A | p.(Trp912*) | – | – | – |
| Optic nerve glioma | NF1 | c.5242C>T | p.(Arg1748*) | XPC | c.1934delC | p.(Pro645Leufs*5) | – | – | – |
| B-cell acute lymphoblastic leukemia | 47,XX,+21 | POLH | c.1600_1610delCA | p.(Gln534Glufs*11) | – | – | – | ||
| Plasmacytoid dendritic cell leukemia | DDX41 | c.962C>T | p.(Pro321Leu) | DDX41 | c.937G>C | p.(Gly313Arg) | NBN | c.834dupA | p.(Gln279Serfs*6) |
| Wilms tumor | BARD1 | g.215591264-215774591 (deletion of exon 1–11) | p.(?) | ERCC3 | c.1115_1120dupAGCAGT | p.(Trp374*) | – | – | – |
| Langerhans cell histiocytosis | BRCA2 | c.5722_5723delCT | p.(Leu1908Argfs*2) | AXIN2 | c.815+1G>A | p.(?) | – | – | – |
| Acute myeloid leukemia | ADA | c.646G>A | p.(Gly216Arg) | FANCM | c.681+1G>C | p.(?) | – | – | – |