Comparison of the prevalence of causative TBD and other gene variants by familial hematologic and/or ILD presentations in adults. A total of 153 probands were tested and are grouped according to their phenotypic presentation. (A) Familial hematologic disorder cases. (B) Mixed hematologic disorder and ILD cases. (C) Familial pulmonary fibrosis cases. The proportions of probands found to carry P or LP variants in telomere genes (A-C) or other hereditary hematologic malignancy syndrome genes (D) by clinical presentation overall and by specific gene are provided and compared by using 2-sided Fisher’s exact tests. Levels of significance are shown as: *P < .05, **P < .001. AL, acute leukemia; FDR, first-degree relative; ns, not significant; SDR, second-degree relative.