Duplication | NM_004281.4(BAG3):c.1418dup (p.Ala474fs) | BAG3 | Likely pathogenic | 10 | 121436483 | 121436484 | C | CG | criteria provided, single submitter | - |
Deletion | NM_004281.4(BAG3):c.339del (p.Tyr114fs) | BAG3 | Likely pathogenic | 10 | 121429521 | 121429521 | TC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_004281.4(BAG3):c.1417C>T (p.Arg473Ter) | BAG3 | Likely pathogenic | 10 | 121436483 | 121436483 | C | T | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_004281.4(BAG3):c.20C>A (p.Ser7Ter) | BAG3 | Likely pathogenic | 10 | 121411207 | 121411207 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_004281.4(BAG3):c.537C>A (p.Cys179Ter) | BAG3 | Pathogenic | 10 | 121431796 | 121431796 | C | A | criteria provided, single submitter | - |
Duplication | NM_004281.4(BAG3):c.277dup (p.Tyr93fs) | BAG3 | Pathogenic | 10 | 121429458 | 121429459 | C | CT | criteria provided, single submitter | - |
single nucleotide variant | NM_004281.4(BAG3):c.146G>A (p.Trp49Ter) | BAG3 | Pathogenic | 10 | 121411333 | 121411333 | G | A | criteria provided, single submitter | - |
Deletion | NM_004281.4(BAG3):c.1034_1038del (p.Glu345fs) | BAG3 | Pathogenic | 10 | 121436099 | 121436103 | AGAGGT | A | criteria provided, single submitter | ClinGen:CA658797543 |
single nucleotide variant | NM_004281.4(BAG3):c.262C>T (p.Gln88Ter) | BAG3 | Pathogenic | 10 | 121429444 | 121429444 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA378294747 |
single nucleotide variant | NM_004281.4(BAG3):c.77G>A (p.Trp26Ter) | BAG3 | Pathogenic/Likely pathogenic | 10 | 121411264 | 121411264 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA378294121 |