Deletion | NM_000256.3(MYBPC3):c.1652_1656del (p.Ile551fs) | MYBPC3 | Likely pathogenic | 11 | 47363676 | 47363680 | CTGCGA | C | criteria provided, single submitter | - |
Deletion | NM_000256.3(MYBPC3):c.1595del (p.Gly532fs) | MYBPC3 | Pathogenic | 11 | 47364158 | 47364158 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA010697 |
Duplication | NM_000256.3(MYBPC3):c.1577_1580dup (p.Cys528fs) | MYBPC3 | Pathogenic | 11 | 47364172 | 47364173 | C | CAGTG | criteria provided, single submitter | ClinGen:CA296492 |
single nucleotide variant | NM_000256.3(MYBPC3):c.1522C>T (p.Gln508Ter) | MYBPC3 | Pathogenic | 11 | 47364231 | 47364231 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010566 |
single nucleotide variant | NM_000256.3(MYBPC3):c.1457G>A (p.Trp486Ter) | MYBPC3 | Pathogenic | 11 | 47364381 | 47364381 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA010361 |
single nucleotide variant | NM_000256.3(MYBPC3):c.1447C>T (p.Gln483Ter) | MYBPC3 | Pathogenic | 11 | 47364391 | 47364391 | G | A | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000256.3(MYBPC3):c.1410_1411del (p.Val471fs) | MYBPC3 | Pathogenic | 11 | 47364427 | 47364428 | ACC | A | criteria provided, single submitter | ClinGen:CA010266 |
single nucleotide variant | NM_000256.3(MYBPC3):c.1405C>T (p.Gln469Ter) | MYBPC3 | Pathogenic | 11 | 47364433 | 47364433 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010259 |
single nucleotide variant | NM_000256.3(MYBPC3):c.1387C>T (p.Gln463Ter) | MYBPC3 | Pathogenic | 11 | 47364451 | 47364451 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA010230 |
Duplication | NM_000256.3(MYBPC3):c.1358dup (p.Val454fs) | MYBPC3 | Pathogenic/Likely pathogenic | 11 | 47364479 | 47364480 | A | AG | criteria provided, multiple submitters, no conflicts | ClinGen:CA279328 |