single nucleotide variant | NM_004281.4(BAG3):c.625C>T (p.Pro209Ser) | BAG3 | Pathogenic/Likely pathogenic | 10 | 121431884 | 121431884 | C | T | criteria provided, multiple submitters, no conflicts | - |
Duplication | NM_004281.4(BAG3):c.607dup (p.Arg203fs) | BAG3 | Pathogenic | 10 | 121431865 | 121431866 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612935 |
Deletion | NM_004281.4(BAG3):c.580del (p.Ser194fs) | BAG3 | Likely pathogenic | 10 | 121431839 | 121431839 | GA | G | criteria provided, single submitter | ClinGen:CA16618934 |
single nucleotide variant | NM_004281.4(BAG3):c.537C>A (p.Cys179Ter) | BAG3 | Pathogenic | 10 | 121431796 | 121431796 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004281.4(BAG3):c.514C>T (p.Gln172Ter) | BAG3 | Pathogenic | 10 | 121431773 | 121431773 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_004281.4(BAG3):c.481C>T (p.Gln161Ter) | BAG3 | Pathogenic | 10 | 121429663 | 121429663 | C | T | criteria provided, single submitter | ClinGen:CA10587694 |
single nucleotide variant | NM_004281.4(BAG3):c.367C>T (p.Arg123Ter) | BAG3 | Pathogenic/Likely pathogenic | 10 | 121429549 | 121429549 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA259790,OMIM:603883.0004 |
Duplication | NM_004281.4(BAG3):c.350dup (p.Gly118fs) | BAG3 | Likely pathogenic | 10 | 121429530 | 121429531 | G | GC | criteria provided, single submitter | ClinGen:CA16618933 |
Deletion | NM_004281.4(BAG3):c.339del (p.Tyr114fs) | BAG3 | Likely pathogenic | 10 | 121429521 | 121429521 | TC | T | criteria provided, single submitter | - |
Duplication | NM_004281.4(BAG3):c.277dup (p.Tyr93fs) | BAG3 | Pathogenic | 10 | 121429458 | 121429459 | C | CT | criteria provided, single submitter | - |