Table 3.
Adjudication | Ethnicity, Ancestry | Gene | HGVSc | HGVSp | Impacts |
---|---|---|---|---|---|
Pathogenic | Non-Hispanic, White | LMNA | NM_170707.3:c.673C>T | NP_733821.1:p.Arg225Ter | Stop Gained |
TNNT2 |
NM_000364.3:c.650_652delAGA NM_001001430.2:c.629_631delAGA |
NP_000355.2:p.Lys217del NP_001001430.1:p.Lys210del |
Inframe Deletion | ||
TTN |
NM_001267550.1:c.61876C>T NM_133378.4:c.54172C>T |
NP_001254479.1:p.Arg20626Ter NP_596869.4:p.Arg18058Ter |
Stop Gained | ||
Likely Pathogenic | Non-Hispanic, White | BAG3 | NM_004281.3:c.1417C>T | NP_004272.2:p.Arg473Ter | Stop Gained |
FLNC | NM_001458.4:c.4926_4927insACGTCACA | NP_001449.3:p.Val1643ThrfsTer26 | Frameshift Variant | ||
FLNC | NM_001458.4:c.1948C>T | NP_001449.3:p.Arg650Ter | Stop Gained | ||
LMNA | NM_170707.3:c.949G>A | NP_733821.1:p.Glu317Lys | Missense Variant | ||
RBM20 | NM_001134363.1:c.1906C>T | NP_001127835.1:p.Arg636Cys | Missense Variant | ||
TTN |
NM_001267550.1:c.90844delA NM_133378.4:c.83140delA |
NP_001254479.1:p.Thr30282ArgfsTer8 NP_596869.4:p.Thr27714ArgfsTer8 |
Frameshift Variant | ||
TTN |
NM_001267550.1:c.88703_88704delAC NM_133378.4:c.80999_81000delAC |
NP_001254479.1:p.His29568LeufsTer7 NP_596869.4:p.His27000LeufsTer7 |
Frameshift Variant | ||
TTN |
NM_001267550.1:c.66804_66807delGAAG NM_133378.4:c.59100_59103delGAAG |
NP_001254479.1:p.Lys22269HisfsTer10 NP_596869.4:p.Lys19701HisfsTer10 |
Frameshift Variant | ||
TTN |
NM_001267550.1:c.64915C>T NM_133378.4:c.57211C>T |
NP_001254479.1:p.Arg21639Ter NP_596869.4:p.Arg19071Ter |
Stop Gained | ||
TTN |
NM_001267550.1:c.71307_71310dupTGAC NM_133378.4:c.63603_63606dupTGAC |
NP_001254479.1:p.Ser23771Ter NP_596869.4:p.Ser21203Ter |
Frameshift Variant | ||
Non-Hispanic, African Ancestry | TTN |
NM_001267550.1:c.83515C>T NM_133378.4:c.75811C>T |
NP_001254479.1:p.Arg27839Ter NP_596869.4:p.Arg25271Ter |
Stop Gained | |
TTN |
NM_001267550.1:c.66931_66932delAA NM_133378.4:c.59227_59228delAA |
NP_001254479.1:p.Lys22311ValfsTer3 NP_596869.4:p.Lys19743ValfsTer3 |
Frameshift Variant |