single nucleotide variant | NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp) | LMNA | Pathogenic | 1 | 156106775 | 156106775 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017258,UniProtKB:P02545#VAR_009993,OMIM:150330.0011 |
single nucleotide variant | NM_170707.4(LMNA):c.398G>T (p.Arg133Leu) | LMNA | Pathogenic | 1 | 156100449 | 156100449 | G | T | criteria provided, single submitter | ClinGen:CA018044,UniProtKB:P02545#VAR_016913,OMIM:150330.0027 |
single nucleotide variant | NM_170707.4(LMNA):c.608A>G (p.Glu203Gly) | LMNA | Pathogenic | 1 | 156104288 | 156104288 | A | G | criteria provided, single submitter | ClinGen:CA018298,UniProtKB:P02545#VAR_009978,OMIM:150330.0008 |
single nucleotide variant | NM_170707.4(LMNA):c.585C>G (p.Asn195Lys) | LMNA | Pathogenic | 1 | 156104265 | 156104265 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA018275,UniProtKB:P02545#VAR_009977,OMIM:150330.0007 |
single nucleotide variant | NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro) | LMNA | Pathogenic | 1 | 156106995 | 156106995 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA017498,UniProtKB:P02545#VAR_009995,OMIM:150330.0003 |
single nucleotide variant | NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp) | LMNA | Pathogenic/Likely pathogenic | 1 | 156106204 | 156106204 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA017033,UniProtKB:P02545#VAR_009988,OMIM:150330.0002 |
single nucleotide variant | NM_170707.4(LMNA):c.16C>T (p.Gln6Ter) | LMNA | Pathogenic | 1 | 156084725 | 156084725 | C | T | criteria provided, single submitter | ClinGen:CA017675,OMIM:150330.0001 |
single nucleotide variant | NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp) | TNNT2 | Pathogenic/Likely pathogenic | 1 | 201333494 | 201333494 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA090410,OMIM:191045.0008 |
single nucleotide variant | NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp) | TNNT2 | Pathogenic | 1 | 201333464 | 201333464 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004526,UniProtKB:P45379#VAR_016198,OMIM:191045.0007 |
single nucleotide variant | NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile) | TNNT2 | Pathogenic | 1 | 201334372 | 201334372 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA004383,UniProtKB:P45379#VAR_007607,OMIM:191045.0005 |