single nucleotide variant | NM_001267550.2(TTN):c.46782C>A (p.Tyr15594Ter) | TTN | Likely pathogenic | 2 | 179483495 | 179483495 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA261864 |
single nucleotide variant | NM_001267550.2(TTN):c.46773T>A (p.Tyr15591Ter) | TTN | Likely pathogenic | 2 | 179483504 | 179483504 | A | T | criteria provided, single submitter | ClinGen:CA261860 |
Deletion | NM_001267550.2(TTN):c.46069_46070del (p.Met15357fs) | TTN | Likely pathogenic | 2 | 179485178 | 179485179 | CAT | C | criteria provided, single submitter | ClinGen:CA261859 |
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_001927.4(DES):c.735+1G>A | DES | Pathogenic/Likely pathogenic | 2 | 220285069 | 220285069 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA261522 |
single nucleotide variant | NM_001927.4(DES):c.38C>T (p.Ser13Phe) | DES | Pathogenic | 2 | 220283222 | 220283222 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA261520,UniProtKB:P17661#VAR_067208,OMIM:125660.0019 |
single nucleotide variant | NM_001927.4(DES):c.1255C>T (p.Pro419Ser) | DES | Pathogenic/Likely pathogenic | 2 | 220288509 | 220288509 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA217034,UniProtKB:P17661#VAR_069074,OMIM:125660.0017 |
Deletion | NM_001267550.2(TTN):c.107889del (p.Lys35963fs) | TTN | Pathogenic | 2 | 179391826 | 179391826 | GT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA309464 |
single nucleotide variant | NM_001927.4(DES):c.1049G>C (p.Arg350Pro) | DES | Pathogenic | 2 | 220286087 | 220286087 | G | C | criteria provided, multiple submitters, no conflicts | OMIM:125660.0016,ClinGen:CA126906,UniProtKB:P17661#VAR_042454 |
single nucleotide variant | NM_001927.4(DES):c.1325C>T (p.Thr442Ile) | DES | Pathogenic | 2 | 220290421 | 220290421 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA217036,UniProtKB:P17661#VAR_042459,OMIM:125660.0015 |