single nucleotide variant | NM_001159699.2(FHL1):c.505T>C (p.Cys169Arg) | FHL1 | Likely pathogenic | X | 135290076 | 135290076 | T | C | criteria provided, single submitter | ClinGen:CA121548,UniProtKB:Q13642#VAR_046001,OMIM:300163.0006 |
single nucleotide variant | NM_170707.4(LMNA):c.398G>C (p.Arg133Pro) | LMNA | Likely pathogenic | 1 | 156100449 | 156100449 | G | C | criteria provided, single submitter | ClinGen:CA018038,UniProtKB:P02545#VAR_017657,OMIM:150330.0032 |
single nucleotide variant | NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) | LMNA | Likely pathogenic | 1 | 156104733 | 156104733 | T | A | criteria provided, single submitter | ClinGen:CA018615,OMIM:150330.0035 |
single nucleotide variant | NM_170707.4(LMNA):c.154C>G (p.Leu52Val) | LMNA | Likely pathogenic | 1 | 156084863 | 156084863 | C | G | criteria provided, single submitter | ClinGen:CA017415 |
single nucleotide variant | NM_170707.4(LMNA):c.513+1G>C | LMNA | Likely pathogenic | 1 | 156100565 | 156100565 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA018184 |
single nucleotide variant | NM_170707.4(LMNA):c.745C>G (p.Arg249Gly) | LMNA | Likely pathogenic | 1 | 156104701 | 156104701 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA018552 |
Deletion | NM_170707.4(LMNA):c.763del (p.Gln255fs) | LMNA | Likely pathogenic | 1 | 156104718 | 156104718 | AC | A | criteria provided, single submitter | ClinGen:CA018586 |
single nucleotide variant | NM_170707.4(LMNA):c.784G>T (p.Glu262Ter) | LMNA | Likely pathogenic | 1 | 156104740 | 156104740 | G | T | criteria provided, single submitter | ClinGen:CA018633 |
single nucleotide variant | NM_170707.4(LMNA):c.863C>G (p.Ala288Gly) | LMNA | Likely pathogenic | 1 | 156105030 | 156105030 | C | G | criteria provided, single submitter | ClinGen:CA018775 |
single nucleotide variant | NM_170707.4(LMNA):c.1158-2A>G | LMNA | Likely pathogenic | 1 | 156106003 | 156106003 | A | G | criteria provided, single submitter | ClinGen:CA016749 |