Duplication | NM_004281.4(BAG3):c.206dup (p.Ser70fs) | BAG3 | Pathogenic | 10 | 121429385 | 121429386 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618932 |
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.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.836C>A (p.Ser279Ter) | BAG3 | Likely pathogenic | 10 | 121432095 | 121432095 | C | A | criteria provided, single submitter | ClinGen:CA214222103 |
Inversion | NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter) | BAG3 | Pathogenic | 10 | 121436362 | 121436363 | AC | GT | criteria provided, single submitter | ClinGen:CA658656099 |
Duplication | NM_004281.4(BAG3):c.1161dup (p.Lys388fs) | BAG3 | Pathogenic | 10 | 121436222 | 121436223 | T | TC | criteria provided, single submitter | ClinGen:CA658656095 |
single nucleotide variant | NM_004281.4(BAG3):c.258C>G (p.Tyr86Ter) | BAG3 | Pathogenic/Likely pathogenic | 10 | 121429440 | 121429440 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA378294739 |
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 |
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 |
Deletion | NM_004281.4(BAG3):c.1034_1038del (p.Glu345fs) | BAG3 | Pathogenic | 10 | 121436099 | 121436103 | AGAGGT | A | criteria provided, single submitter | ClinGen:CA658797543 |