single nucleotide variant | NM_001267550.2(TTN):c.82548G>A (p.Trp27516Ter) | TTN | Likely pathogenic | 2 | 179428311 | 179428311 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.81650G>A (p.Trp27217Ter) | TTN | Likely pathogenic | 2 | 179429209 | 179429209 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001267550.2(TTN):c.78326G>A (p.Trp26109Ter) | TTN | Likely pathogenic | 2 | 179432533 | 179432533 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001267550.2(TTN):c.70714C>T (p.Gln23572Ter) | TTN | Pathogenic/Likely pathogenic | 2 | 179440145 | 179440145 | G | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001267550.2(TTN):c.67519C>T (p.Gln22507Ter) | TTN | Likely pathogenic | 2 | 179444405 | 179444405 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.67415G>A (p.Trp22472Ter) | TTN | Pathogenic | 2 | 179444509 | 179444509 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001458.5(FLNC):c.4021C>T (p.Arg1341Ter) | FLNC | Pathogenic/Likely pathogenic | 7 | 128486411 | 128486411 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001458.5(FLNC):c.4969C>T (p.Arg1657Ter) | FLNC | Pathogenic/Likely pathogenic | 7 | 128489402 | 128489402 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001458.5(FLNC):c.5478T>G (p.Tyr1826Ter) | FLNC | Pathogenic/Likely pathogenic | 7 | 128490936 | 128490936 | T | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_000256.3(MYBPC3):c.2453G>A (p.Trp818Ter) | MYBPC3 | Pathogenic | 11 | 47359091 | 47359091 | C | T | criteria provided, multiple submitters, no conflicts | - |