Deletion | NM_001267550.2(TTN):c.68876_68883del (p.Lys22959fs) | TTN | Likely pathogenic | 2 | 179442179 | 179442186 | CCCCTGCTT | C | criteria provided, single submitter | - |
Deletion | NM_001267550.2(TTN):c.68941del (p.Trp22981fs) | TTN | Likely pathogenic | 2 | 179442121 | 179442121 | CA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.69558G>A (p.Trp23186Ter) | TTN | Likely pathogenic | 2 | 179441413 | 179441413 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.70879C>T (p.Gln23627Ter) | TTN | Likely pathogenic | 2 | 179439980 | 179439980 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_001267550.2(TTN):c.72873del (p.His24291fs) | TTN | Likely pathogenic | 2 | 179437986 | 179437986 | CA | C | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.74041C>T (p.Gln24681Ter) | TTN | Likely pathogenic | 2 | 179436818 | 179436818 | 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 | - |
single nucleotide variant | NM_001267550.2(TTN):c.77248C>T (p.Arg25750Ter) | TTN | Likely pathogenic | 2 | 179433611 | 179433611 | G | A | 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.79539T>A (p.Tyr26513Ter) | TTN | Likely pathogenic | 2 | 179431320 | 179431320 | A | T | criteria provided, single submitter | - |