Deletion | NM_001267550.2(TTN):c.107163_107167del (p.Phe35721fs) | TTN | Pathogenic/Likely pathogenic | 2 | 179393311 | 179393315 | CAAGTA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA275200 |
single nucleotide variant | NM_001927.4(DES):c.364T>G (p.Tyr122Asp) | DES | Likely pathogenic | 2 | 220283548 | 220283548 | T | G | criteria provided, single submitter | ClinGen:CA308313 |
single nucleotide variant | NM_001927.4(DES):c.634C>T (p.Arg212Ter) | DES | Pathogenic/Likely pathogenic | 2 | 220284872 | 220284872 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA308316 |
single nucleotide variant | NM_001927.4(DES):c.1371+1G>C | DES | Likely pathogenic | 2 | 220290468 | 220290468 | G | C | criteria provided, single submitter | ClinGen:CA308297 |
single nucleotide variant | NM_001927.4(DES):c.1412A>C (p.Ter471Ser) | DES | Likely pathogenic | 2 | 220290711 | 220290711 | A | C | criteria provided, single submitter | ClinGen:CA308298 |
Deletion | NM_004281.4(BAG3):c.1267_1276del (p.Leu423fs) | BAG3 | Pathogenic | 10 | 121436332 | 121436341 | TGCTGAAAGTG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA204624 |
single nucleotide variant | NM_001267550.2(TTN):c.101227C>T (p.Arg33743Ter) | TTN | Likely pathogenic | 2 | 179400115 | 179400115 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA309376 |
Indel | NM_001267550.2(TTN):c.101098delinsCT (p.Asp33700fs) | TTN | Pathogenic/Likely pathogenic | 2 | 179400244 | 179400244 | C | AG | criteria provided, multiple submitters, no conflicts | ClinGen:CA309461 |
Duplication | NM_001267550.2(TTN):c.99184_99185dup (p.Leu33063fs) | TTN | Pathogenic/Likely pathogenic | 2 | 179403370 | 179403371 | A | ACC | criteria provided, multiple submitters, no conflicts | ClinGen:CA309547 |
single nucleotide variant | NM_001267550.2(TTN):c.98989+1G>A | TTN | Pathogenic/Likely pathogenic | 2 | 179403672 | 179403672 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA309375 |