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 |
Duplication | NM_004281.4(BAG3):c.1161dup (p.Lys388fs) | BAG3 | Pathogenic | 10 | 121436222 | 121436223 | T | TC | criteria provided, single submitter | ClinGen:CA658656095 |
Inversion | NM_004281.4(BAG3):c.1296_1297inv (p.Gln433Ter) | BAG3 | Pathogenic | 10 | 121436362 | 121436363 | AC | GT | criteria provided, single submitter | ClinGen:CA658656099 |
single nucleotide variant | NM_007078.3(LDB3):c.686G>T (p.Gly229Val) | LDB3 | Likely pathogenic | 10 | 88441557 | 88441557 | G | T | criteria provided, single submitter | ClinGen:CA377455773 |
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 |
Deletion | NM_004281.4(BAG3):c.580del (p.Ser194fs) | BAG3 | Likely pathogenic | 10 | 121431839 | 121431839 | GA | G | criteria provided, single submitter | ClinGen:CA16618934 |
Duplication | NM_004281.4(BAG3):c.350dup (p.Gly118fs) | BAG3 | Likely pathogenic | 10 | 121429530 | 121429531 | G | GC | criteria provided, single submitter | ClinGen:CA16618933 |
Duplication | NM_004281.4(BAG3):c.206dup (p.Ser70fs) | BAG3 | Pathogenic | 10 | 121429385 | 121429386 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618932 |
single nucleotide variant | NM_004281.4(BAG3):c.1240G>T (p.Glu414Ter) | BAG3 | Pathogenic | 10 | 121436306 | 121436306 | G | T | criteria provided, single submitter | ClinGen:CA16613029 |
Duplication | NM_004281.4(BAG3):c.607dup (p.Arg203fs) | BAG3 | Pathogenic | 10 | 121431865 | 121431866 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612935 |