Deletion | NM_004281.4(BAG3):c.72del (p.Gly25fs) | BAG3 | Pathogenic/Likely pathogenic | 10 | 121411254 | 121411254 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA273126 |
Deletion | NM_004281.4(BAG3):c.1067del (p.Pro356fs) | BAG3 | Pathogenic/Likely pathogenic | 10 | 121436129 | 121436129 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA273654 |
Deletion | NM_004281.4(BAG3):c.100_107del (p.Thr34fs) | BAG3 | Likely pathogenic | 10 | 121411286 | 121411293 | AGACCGGCT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA273668 |
single nucleotide variant | NM_004281.4(BAG3):c.626C>A (p.Pro209Gln) | BAG3 | Pathogenic | 10 | 121431885 | 121431885 | C | A | criteria provided, single submitter | ClinGen:CA170913,OMIM:603883.0010 |
single nucleotide variant | NM_004281.4(BAG3):c.1363G>A (p.Glu455Lys) | BAG3 | Pathogenic | 10 | 121436429 | 121436429 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA135016,UniProtKB:O95817#VAR_066785 |
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_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 |
single nucleotide variant | NM_004281.4(BAG3):c.626C>T (p.Pro209Leu) | BAG3 | Pathogenic | 10 | 121431885 | 121431885 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA308228,UniProtKB:O95817#VAR_063089,OMIM:603883.0001 |
single nucleotide variant | NM_001458.5(FLNC):c.6997+1G>T | FLNC | Likely pathogenic | 7 | 128494737 | 128494737 | G | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001458.5(FLNC):c.4127+1G>T | FLNC | Pathogenic | 7 | 128486518 | 128486518 | G | T | criteria provided, single submitter | - |