Gene Chr Predicted Start Predicted End Algorithm(s) Predicted Consequence after IGV Review Phenotype (Age at Diagnosis) Genes Tested by Clinical Services Year Consulted
FLCN 17 1,7136,696 (Manta), 1,7137,867 (Canvas) 17,134,310 (Manta), 17,134,474 (Canvas) Canvas and Manta deletion of exon 2 breast (46 years) and pulmonary lymphangioleiomyomatosis (47 years) information unavailable unknown
PTEN 10 89,719,837 89,713,996 Manta inversion of exon 7 breast (45 years)a BRCA1 and BRCA2 (single gene) unknown
SMAD4 9 and 18 chr9: 127,732,713 chr18: 48,556,624 Manta translocation with breakpoint within untranslated part of exon 1 CNS (42 years) and colorectal (56 years) in mother PMS2, TP53, and MLH1 (single gene) 2011
TSC1 9 135,807,261 135,803,187 Manta duplication of exon 3 testicular (47 years), prostate (64 years), and lung (70 years) BRCA1 and BRCA2 (single-gene Ashkenazi common mutations) 2016
TSC2 16 2,119,769 1,566,500 Manta inversion with breakpoint in introns 16 and 17 small bowel (42 years) and colorectal (43 years) MSH6 (single gene; IHC also revealed MSH6 loss) 2012
FH 1 242,310,908 237,244,834 Canvas full-gene deletion multiple cutaneous leiomyomata (<55 years)a FH (single gene) 2014