Duplication | NM_020778.5(ALPK3):c.3580dup (p.Arg1194fs) | ALPK3 | Pathogenic/Likely pathogenic | 15 | 85401543 | 85401544 | T | TC | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001276345.2(TNNT2):c.609+1del | TNNT2 | Likely pathogenic | 1 | 201331513 | 201331513 | AC | A | criteria provided, single submitter | - |
single nucleotide variant | NM_001458.5(FLNC):c.7561+1G>A | FLNC | Likely pathogenic | 7 | 128496976 | 128496976 | G | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000256.3(MYBPC3):c.1457+2T>G | MYBPC3 | Likely pathogenic | 11 | 47364379 | 47364379 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_000256.3(MYBPC3):c.655-2A>C | MYBPC3 | Pathogenic | 11 | 47370094 | 47370094 | T | G | criteria provided, single submitter | - |
Deletion | NM_001267550.2(TTN):c.55541_55542del (p.Tyr18514fs) | TTN | Likely pathogenic | 2 | 179466182 | 179466183 | CAT | C | criteria provided, single submitter | - |
Deletion | NM_000256.3(MYBPC3):c.1367del (p.Ile456fs) | MYBPC3 | Pathogenic | 11 | 47364471 | 47364471 | GA | G | criteria provided, single submitter | - |
Duplication | NM_133379.5(TTN):c.14304dup (p.Ala4769fs) | TTN | Likely pathogenic | 2 | 179612822 | 179612823 | C | CT | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.107284C>T (p.Arg35762Ter) | TTN | Likely pathogenic | 2 | 179393094 | 179393094 | G | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001267550.2(TTN):c.106114_106115dup (p.Leu35372fs) | TTN | Likely pathogenic | 2 | 179395226 | 179395227 | T | TAA | criteria provided, multiple submitters, no conflicts | - |