Table 4 .
Other Disorders With Germline Predisposition Syndromes
| Case No. | Panel Diagnosis | Pathogenic Alterations |
|---|---|---|
| 268 | Thrombocytopenia with germline ANKRD26 mutation | ANKRD26 c.-119C>G |
| 271 | Thrombocytopenia with germline RUNX1 mutation | RUNX1 exon 6 deletion |
| ATM K2253T | ||
| 309 | Thrombocytopenia with germline RUNX1 mutation | RUNX1 p.I366_G367dup |
| TET2 p.M533T | ||
| 364 | Thrombocytopenia with germline RUNX1 mutation | RUNX1 c.967 + 2_967 + 5delTAAG |
| 219 | Thrombocytopenia with germline RUNX1 variant of unknown significance | RUNX1 p.R207W |
| 275 | Bone marrow and immunodeficiency disorder (monoMAC syndrome) with germline GATA2 mutation | GATA2 p.R398W |
| STAG2 p.R614* | ||
| PALB2 p.?splice | ||
| 258 | Hemophagocytic lymphohistiocytosis in a patient with bone marrow and immunodeficiency disorder (MonoMAC syndrome) with germline GATA2 mutation | GATA2 p.R398Q (G) |
| 97 | Thrombocytosis with germline MPL mutation | MPL p.P106L (G) |
| 346 | 1: Classical Hodgkin lymphoma2: Congenital neutropenia (germline CSF3R variant of unknown significance) | CSF3Rp.R583C (G) |
| 320 | Transient myeloproliferative disorder in a patient with germline PTPN11 mutation (Noonan syndrome) | PTPN11 p.S502L |
| 200 | TAFRO (thrombocytopenia, ascites, fibrosis, renal dysfunction, organomegaly), a variant of multicentric Castleman disease | RUNX1 p.G87C |
| 333 | Constitutional t(12;18) of undetermined significance | t(12;18) |
G, germline.