single nucleotide variant | NM_002471.4(MYH6):c.452C>T (p.Pro151Leu) | MYH6 | Likely pathogenic | 14 | 23874482 | 23874482 | G | A | criteria provided, single submitter | ClinGen:CA389030846 |
single nucleotide variant | NM_002471.4(MYH6):c.735T>G (p.Phe245Leu) | MYH6 | Pathogenic | 14 | 23873505 | 23873505 | A | C | criteria provided, single submitter | ClinGen:CA389028862 |
single nucleotide variant | NM_002471.4(MYH6):c.1410+1G>A | MYH6 | Pathogenic | 14 | 23869917 | 23869917 | C | T | criteria provided, single submitter | - |
single nucleotide variant | NM_002471.4(MYH6):c.2162G>A (p.Arg721Gln) | MYH6 | Likely pathogenic | 14 | 23866178 | 23866178 | C | T | criteria provided, single submitter | ClinGen:CA7115577 |
Deletion | NM_002471.4(MYH6):c.2462_2469del (p.Arg821fs) | MYH6 | Pathogenic | 14 | 23863493 | 23863500 | TGAAGGCCC | T | criteria provided, single submitter | ClinGen:CA658798170 |
Duplication | NM_002471.4(MYH6):c.3193dup (p.Gln1065fs) | MYH6 | Pathogenic | 14 | 23862178 | 23862179 | T | TG | criteria provided, single submitter | ClinGen:CA279617 |
single nucleotide variant | NM_002471.4(MYH6):c.4097C>T (p.Ala1366Val) | MYH6 | Likely pathogenic | 14 | 23858146 | 23858146 | G | A | criteria provided, single submitter | ClinGen:CA389001874 |
Duplication | NM_003476.5(CSRP3):c.122_123dup (p.Lys42fs) | CSRP3 | Pathogenic | 11 | 19209840 | 19209841 | T | TCC | criteria provided, single submitter | ClinGen:CA10603192 |
Deletion | NC_000003.12:g.(?_8733867)_(8745877_?)del | CAV3 | Pathogenic | 3 | 8775553 | 8787563 | na | na | criteria provided, single submitter | - |
Duplication | NM_033337.3(CAV3):c.366dup (p.Leu123fs) | CAV3 | Likely pathogenic | 3 | 8787462 | 8787463 | C | CA | criteria provided, single submitter | ClinGen:CA658796224 |