Gene | Transcript | Coding change | Protein change | Pathogenicity assessment | Interpretation in Clinvar |
---|---|---|---|---|---|
BAG3 | NM_004281 | c.C268T | p.R90X | P | P |
DSP | NM_004415 | c.C6496T | p.R2166X | P | P/LP |
FLNC | NM_001458 | c.5842 + 1G > A | P | LP | |
FLNC | NM_001458 | c.C805T | p.R269X | P | P |
FLNC | NM_001458 | c.G1730A | p.W577X | P | P |
LMNA | NM_005572 | c.C568T | p.R190W | LP | P |
LMNA | NM_005572 | c.C673T | p.R225X | P | P |
LMNA | NM_005572 | c.G4T | p.E2X | P | P |
MYH7 | NM_000257 | c.C427T | p.R143W | LP | P/LP |
MYH7 | NM_000257 | c.G1106A | p.R369Q | LP | LP |
TNNT2 | NM_000364 | c.650_652del | p.217_218del | LP | P/LP |
TNNT2 | NM_000364 | c.C418T | p.R140C | P | P/LP |
TNNT2 | NM_000364 | c.C451T | p.R151W | P | P |
TTN | NM_001256850 | c.82741_82748del | p.D27581fs | P | LP |
TTN | NM_001256850 | c.89421_89424del | p.K29807fs | P | P/LP |
TTN | NM_001256850 | c.C80344T | p.R26782X | P | LP |
TTN | NM_001256850 | c.C82117T | p.R27373X | P | P |
TTN | NM_001256850 | c.C95419T | p.R31807X | P | LP |