single nucleotide variant | NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu) | RYR2 | Pathogenic | 1 | 237798237 | 237798237 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA010282,UniProtKB:Q92736#VAR_011396,OMIM:180902.0001 |
single nucleotide variant | NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys) | RYR2 | Pathogenic | 1 | 237954741 | 237954741 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007921,UniProtKB:Q92736#VAR_011402,OMIM:180902.0004 |
single nucleotide variant | NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro) | RYR2 | Pathogenic | 1 | 237617696 | 237617696 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA007785,UniProtKB:Q92736#VAR_011395,OMIM:180902.0006 |
single nucleotide variant | NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg) | RYR2 | Pathogenic | 1 | 237947614 | 237947614 | A | G | criteria provided, single submitter | ClinGen:CA007638,UniProtKB:Q92736#VAR_011401,OMIM:180902.0009 |
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_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.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.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.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.398G>T (p.Arg133Leu) | LMNA | Pathogenic | 1 | 156100449 | 156100449 | G | T | criteria provided, single submitter | ClinGen:CA018044,UniProtKB:P02545#VAR_016913,OMIM:150330.0027 |