Insertion | NM_001267550.2(TTN):c.82684_82685insSVAelement | TTN | Likely pathogenic | 2 | 179428174 | 179428175 | na | na | criteria provided, single submitter | - |
Deletion | NM_001267550.2(TTN):c.82226del (p.Lys27409fs) | TTN | Likely pathogenic | 2 | 179428633 | 179428633 | CT | C | criteria provided, single submitter | - |
Deletion | NM_001267550.2(TTN):c.81718del (p.Arg27240fs) | TTN | Likely pathogenic | 2 | 179429141 | 179429141 | CT | C | criteria provided, single submitter | - |
Deletion | NM_001267550.2(TTN):c.81323del (p.His27108fs) | TTN | Likely pathogenic | 2 | 179429536 | 179429536 | AT | A | criteria provided, single submitter | - |
Deletion | NM_001267550.2(TTN):c.80736_80742del (p.Trp26913fs) | TTN | Likely pathogenic | 2 | 179430117 | 179430123 | TGACCCAA | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.80547T>G (p.Tyr26849Ter) | TTN | Likely pathogenic | 2 | 179430312 | 179430312 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.79539T>A (p.Tyr26513Ter) | TTN | Likely pathogenic | 2 | 179431320 | 179431320 | A | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.78249T>G (p.Tyr26083Ter) | TTN | Likely pathogenic | 2 | 179432610 | 179432610 | A | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter) | TTN | Likely pathogenic | 2 | 179433611 | 179433611 | G | A | criteria provided, single submitter | - |
Duplication | NM_001267550.2(TTN):c.77145dup (p.Ser25716fs) | TTN | Likely pathogenic | 2 | 179433713 | 179433714 | A | AG | criteria provided, multiple submitters, no conflicts | - |