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_001289808.2(CRYAB):c.166C>T (p.Arg56Trp) | CRYAB | Likely pathogenic | 11 | 111782283 | 111782283 | G | A | criteria provided, single submitter | ClinGen:CA130927,OMIM:123590.0010 |
single nucleotide variant | NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro) | BAG3 | Likely pathogenic | 10 | 121436451 | 121436451 | T | C | criteria provided, single submitter | ClinGen:CA261131,UniProtKB:O95817#VAR_066786,OMIM:603883.0008 |
single nucleotide variant | NM_001458.5(FLNC):c.752T>C (p.Met251Thr) | FLNC | Likely pathogenic | 7 | 128477504 | 128477504 | T | C | criteria provided, single submitter | ClinGen:CA128477,UniProtKB:Q14315#VAR_066213,OMIM:102565.0003 |
single nucleotide variant | NM_001267550.2(TTN):c.107867T>C (p.Leu35956Pro) | TTN | Likely pathogenic | 2 | 179391848 | 179391848 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA341209,OMIM:188840.0005 |
single nucleotide variant | NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg) | TTN | Likely pathogenic | 2 | 179647707 | 179647707 | A | G | criteria provided, single submitter | ClinGen:CA256496,UniProtKB:Q8WZ42#VAR_026689,OMIM:188840.0003 |