Table 2 Identified pathogenic/likely pathogenic variants.

From: Returning genomic results in a Federally Qualified Health Center: the intersection of precision medicine and social determinants of health

Gene Example of associated condition Position (NCBI 37) Variant Interpretation
BRCA1 Hereditary breast–ovarian syndrome chr17 g.41246754_41246757del c.791_794delGTTC Pathogenic
    p.Ser264Metfs*33  
BRCA2 Hereditary breast–ovarian syndrome chr13 g.32911756dup c.3264dup Pathogenic
    p.Gln1089Serfs*10  
FBN1 Marfan syndrome chr15 g.48757985A>G NM_000138.4:c.4816+2T>C Likely pathogenic
PALB2 Susceptibility to breast and pancreatic cancer chr16 g.23641355del c.2120delC Pathogenic
    p.Pro707Leufs*2  
TP53 Li–Fraumeni syndrome chr17 g.7578211C>T c.638G>A Pathogenic
    p.Arg213Gln  
LDLR Familial hypercholesterolemia chr19 g.11230819C>T c.1897C>T Likely pathogenic
    p.Arg633Cys  
SCN5A Brugada syndrome or long QT syndrome chr3 g.38592968C>T c.4895G>A Likely pathogenic
    p.Arg1632His  
SCN5A Brugada syndrome or long QT syndrome chr3 g.38627528C>T c.2441G>A Likely pathogenic
    p.Arg814Gln  
PALB2 Susceptibility to breast and pancreatic cancer chr16 g.23649390C>T c.108+1G>A Likely pathogenic
    N/A  
  1. NCBI National Center for Biotechnology Information.