Deletion | NM_001267550.2(TTN):c.56564_56576del (p.Tyr18855fs) | TTN | Likely pathogenic | 2 | 179463944 | 179463956 | GATTCGGAATACAT | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001267550.2(TTN):c.56783C>A (p.Ser18928Ter) | TTN | Likely pathogenic | 2 | 179463654 | 179463654 | G | T | criteria provided, single submitter | - |
Deletion | NM_001267550.2(TTN):c.58620del (p.Val19541fs) | TTN | Likely pathogenic | 2 | 179458407 | 179458407 | CT | C | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001267550.2(TTN):c.61324G>T (p.Glu20442Ter) | TTN | Likely pathogenic | 2 | 179455128 | 179455128 | C | A | criteria provided, single submitter | - |
Deletion | NM_001267550.2(TTN):c.61757_61758del (p.Cys20586fs) | TTN | Likely pathogenic | 2 | 179454694 | 179454695 | TAC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.61847G>A (p.Trp20616Ter) | TTN | Likely pathogenic | 2 | 179454605 | 179454605 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.64222G>T (p.Glu21408Ter) | TTN | Likely pathogenic | 2 | 179451406 | 179451406 | C | A | criteria provided, single submitter | - |
Deletion | NM_001267550.2(TTN):c.64297del (p.Glu21433fs) | TTN | Likely pathogenic | 2 | 179451331 | 179451331 | TC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.64318A>T (p.Arg21440Ter) | TTN | Likely pathogenic | 2 | 179451310 | 179451310 | T | A | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_001267550.2(TTN):c.68325dup (p.Thr22776fs) | TTN | Likely pathogenic | 2 | 179443341 | 179443342 | T | TA | criteria provided, single submitter | - |