Deletion | NC_000001.11:g.(?_156114919)_(156243162_?)del | LMNA | Pathogenic | 1 | 156084710 | 156212953 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_156114899)_(156139859_?)del | LMNA | Pathogenic | 1 | 156084690 | 156109650 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_156137634)_(156139126_?)del | LMNA | Likely pathogenic | 1 | 156107425 | 156108917 | na | na | criteria provided, single submitter | - |
Deletion | NC_000001.11:g.(?_156134393)_(156139116_?)del | LMNA | Pathogenic | 1 | 156104184 | 156108907 | na | na | criteria provided, single submitter | - |
single nucleotide variant | NM_170707.4(LMNA):c.1968+5G>A | LMNA | Pathogenic | 1 | 156108553 | 156108553 | G | A | criteria provided, single submitter | ClinGen:CA347068,OMIM:150330.0056 |
Duplication | NM_170707.4(LMNA):c.1961dup (p.Thr655fs) | LMNA | Pathogenic | 1 | 156108541 | 156108541 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA020498 |
single nucleotide variant | NM_170707.4(LMNA):c.1824C>T (p.Gly608=) | LMNA | Pathogenic | 1 | 156108404 | 156108404 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA015291,OMIM:150330.0022 |
Duplication | NM_170707.4(LMNA):c.1657dup (p.Asp553fs) | LMNA | Pathogenic | 1 | 156107492 | 156107493 | C | CG | criteria provided, single submitter | - |
Deletion | NM_170707.4(LMNA):c.1629_1636del (p.Val544fs) | LMNA | Pathogenic | 1 | 156107462 | 156107469 | AGCTGGTGC | A | criteria provided, single submitter | ClinGen:CA16617002 |
single nucleotide variant | NM_170707.4(LMNA):c.1622G>C (p.Arg541Pro) | LMNA | Pathogenic/Likely pathogenic | 1 | 156107458 | 156107458 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA017630,UniProtKB:P02545#VAR_064975 |