Deletion | NC_000016.10:g.(?_15703981)_(15838262_?)del | MYH11 | Pathogenic | 16 | 15797838 | 15932119 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter) | MYH11 | Likely pathogenic | 16 | 15814136 | 15814136 | G | A | criteria provided, single submitter | - |
Deletion | NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs) | MYH11 | Pathogenic | 16 | 15813496 | 15813497 | CTT | C | criteria provided, single submitter | - |
single nucleotide variant | NM_002474.3(MYH11):c.4578+1G>C | MYH11 | Pathogenic/Likely pathogenic | 16 | 15815278 | 15815278 | C | G | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_002474.3(MYH11):c.726+1G>A | MYH11 | Likely pathogenic | 16 | 15876241 | 15876241 | C | T | criteria provided, single submitter | ClinGen:CA7922844 |
Deletion | NC_000016.10:g.(?_15823235)_(15838272_?)del | MYH11 | Pathogenic | 16 | 15917092 | 15932129 | na | na | criteria provided, single submitter | - |
Deletion | NC_000016.10:g.(?_15703971)_(15838272_?)del | MYH11 | Pathogenic | 16 | 15797828 | 15932129 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_002474.3(MYH11):c.4360G>C (p.Asp1454His) | MYH11 | Likely pathogenic | 16 | 15818023 | 15818023 | C | G | criteria provided, single submitter | ClinGen:CA16043500 |
single nucleotide variant | NM_002474.3(MYH11):c.4578+1G>A | MYH11 | Pathogenic/Likely pathogenic | 16 | 15815278 | 15815278 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16043053 |
Deletion | NM_002474.3(MYH11):c.2809_2810del (p.Arg937fs) | MYH11 | Pathogenic | 16 | 15835369 | 15835370 | CCT | C | criteria provided, single submitter | ClinGen:CA277177,OMIM:160745.0007 |