single nucleotide variant | NM_000256.3(MYBPC3):c.1644C>G (p.Tyr548Ter) | MYBPC3 | Pathogenic/Likely pathogenic | 11 | 47363688 | 47363688 | G | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_020778.5(ALPK3):c.1009C>T (p.Gln337Ter) | ALPK3 | Likely pathogenic | 15 | 85383519 | 85383519 | C | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001458.5(FLNC):c.2795dup (p.Tyr932Ter) | FLNC | Likely pathogenic | 7 | 128483614 | 128483615 | T | TA | criteria provided, single submitter | - |
single nucleotide variant | NM_000256.3(MYBPC3):c.2635G>T (p.Glu879Ter) | MYBPC3 | Likely pathogenic | 11 | 47357530 | 47357530 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.101107C>T (p.Arg33703Ter) | TTN | Likely pathogenic | 2 | 179400235 | 179400235 | G | A | criteria provided, multiple submitters, no conflicts | - |
copy number loss | GRCh37/hg19 2q31.2(chr2:179403525-179655493) | TTN | Likely pathogenic | 2 | 179403525 | 179655493 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.100887G>A (p.Trp33629Ter) | TTN | Likely pathogenic | 2 | 179400455 | 179400455 | C | T | criteria provided, single submitter | - |
Deletion | NM_001267550.2(TTN):c.91544_91554del (p.Ile30515fs) | TTN | Likely pathogenic | 2 | 179415704 | 179415714 | CTCTTGTCATAA | C | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001267550.2(TTN):c.87354del (p.Ala29119fs) | TTN | Likely pathogenic | 2 | 179422727 | 179422727 | CA | C | criteria provided, single submitter | - |
Duplication | NM_001267550.2(TTN):c.70745dup (p.Thr23583fs) | TTN | Likely pathogenic | 2 | 179440113 | 179440114 | G | GA | criteria provided, multiple submitters, no conflicts | - |