Deletion | NM_001267550.2(TTN):c.14056del (p.Thr4686fs) | TTN | Likely pathogenic | 2 | 179603904 | 179603904 | GT | G | criteria provided, single submitter | ClinGen:CA353330 |
single nucleotide variant | NM_001267550.2(TTN):c.15496+1G>T | TTN | Pathogenic/Likely pathogenic | 2 | 179599054 | 179599054 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610517 |
single nucleotide variant | NM_001267550.2(TTN):c.15496+1G>A | TTN | Pathogenic/Likely pathogenic | 2 | 179599054 | 179599054 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA138728 |
single nucleotide variant | NM_001267550.2(TTN):c.20836+1G>A | TTN | Pathogenic | 2 | 179590094 | 179590094 | C | T | criteria provided, single submitter | ClinGen:CA349540437 |
single nucleotide variant | NM_001267550.2(TTN):c.22480T>C (p.Ser7494Pro) | TTN | Likely pathogenic | 2 | 179587034 | 179587034 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001267550.2(TTN):c.22973C>G (p.Ser7658Ter) | TTN | Likely pathogenic | 2 | 179585773 | 179585773 | G | C | criteria provided, single submitter | ClinGen:CA349517599 |
Indel | NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs) | TTN | Pathogenic | 2 | 179584315 | 179584316 | GC | T | criteria provided, single submitter | ClinGen:CA207334 |
single nucleotide variant | NM_001267550.2(TTN):c.28001G>A (p.Trp9334Ter) | TTN | Likely pathogenic | 2 | 179575962 | 179575962 | C | T | criteria provided, single submitter | ClinGen:CA16043802 |
Deletion | NM_001267550.2(TTN):c.29062del (p.Ala9688fs) | TTN | Likely pathogenic | 2 | 179571661 | 179571661 | GC | G | criteria provided, single submitter | ClinGen:CA353020 |
single nucleotide variant | NM_001267550.2(TTN):c.30253C>T (p.Gln10085Ter) | TTN | Likely pathogenic | 2 | 179567361 | 179567361 | G | A | criteria provided, single submitter | ClinGen:CA16043887 |