single nucleotide variant | NM_016203.4(PRKAG2):c.1022T>C (p.Leu341Ser) | PRKAG2 | Likely pathogenic | 7 | 151269779 | 151269779 | A | G | criteria provided, single submitter | - |
Duplication | NM_000256.3(MYBPC3):c.3549dup (p.Thr1184fs) | MYBPC3 | Likely pathogenic | 11 | 47354194 | 47354195 | T | TG | criteria provided, single submitter | - |
single nucleotide variant | NM_000256.3(MYBPC3):c.2614G>T (p.Glu872Ter) | MYBPC3 | Likely pathogenic | 11 | 47357551 | 47357551 | C | A | criteria provided, single submitter | - |
single nucleotide variant | NM_000256.3(MYBPC3):c.2281C>T (p.Gln761Ter) | MYBPC3 | Likely pathogenic | 11 | 47360098 | 47360098 | G | A | criteria provided, single submitter | - |
Duplication | NM_000256.3(MYBPC3):c.1393dup (p.Val465fs) | MYBPC3 | Likely pathogenic | 11 | 47364444 | 47364445 | A | AC | criteria provided, single submitter | - |
single nucleotide variant | NM_000256.3(MYBPC3):c.711C>A (p.Tyr237Ter) | MYBPC3 | Pathogenic/Likely pathogenic | 11 | 47370036 | 47370036 | G | T | criteria provided, multiple submitters, no conflicts | - |
Deletion | NM_000256.3(MYBPC3):c.342_343del (p.Gly115fs) | MYBPC3 | Likely pathogenic | 11 | 47372116 | 47372117 | CCA | C | criteria provided, single submitter | - |
Deletion | NM_000256.3(MYBPC3):c.313del (p.Ala105fs) | MYBPC3 | Pathogenic | 11 | 47372146 | 47372146 | GC | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000257.4(MYH7):c.2576T>C (p.Leu859Pro) | MYH7 | Likely pathogenic | 14 | 23894081 | 23894081 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_000257.4(MYH7):c.1400T>A (p.Ile467Asn) | MYH7 | Pathogenic | 14 | 23898171 | 23898171 | A | T | criteria provided, single submitter | - |