Deletion | NM_000256.3(MYBPC3):c.3302del (p.Thr1101fs) | MYBPC3 | Pathogenic | 11 | 47354773 | 47354773 | TG | T | criteria provided, single submitter | - |
Deletion | NM_000256.3(MYBPC3):c.3217del (p.Arg1073fs) | MYBPC3 | Likely pathogenic | 11 | 47354858 | 47354858 | CG | C | criteria provided, single submitter | ClinGen:CA013676 |
Duplication | NM_000256.3(MYBPC3):c.3217dup (p.Arg1073fs) | MYBPC3 | Pathogenic/Likely pathogenic | 11 | 47354857 | 47354858 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA296433 |
Deletion | NM_000256.3(MYBPC3):c.3182_3190+4del | MYBPC3 | Pathogenic/Likely pathogenic | 11 | 47355104 | 47355116 | CGCACCAACAACCT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA296495 |
Deletion | NM_000256.3(MYBPC3):c.3190+3del | MYBPC3 | Pathogenic | 11 | 47355105 | 47355105 | GC | G | criteria provided, single submitter | ClinGen:CA013625 |
Indel | NM_000256.3(MYBPC3):c.3079G>AA | MYBPC3 | Pathogenic | 11 | 47355219 | 47355219 | C | TT | criteria provided, multiple submitters, no conflicts | ClinGen:CA296432 |
single nucleotide variant | NM_000256.3(MYBPC3):c.3034C>T (p.Gln1012Ter) | MYBPC3 | Pathogenic | 11 | 47355264 | 47355264 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA013359 |
single nucleotide variant | NM_000256.3(MYBPC3):c.3021G>A (p.Trp1007Ter) | MYBPC3 | Pathogenic | 11 | 47355277 | 47355277 | C | T | criteria provided, single submitter | ClinGen:CA013344 |
single nucleotide variant | NM_000256.3(MYBPC3):c.2995-1G>A | MYBPC3 | Pathogenic | 11 | 47355304 | 47355304 | C | T | criteria provided, single submitter | ClinGen:CA013288 |
single nucleotide variant | NM_000256.3(MYBPC3):c.2992C>T (p.Gln998Ter) | MYBPC3 | Pathogenic | 11 | 47355475 | 47355475 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA013265 |