single nucleotide variant | NM_001613.4(ACTA2):c.138G>T (p.Met46Ile) | ACTA2 | Pathogenic/Likely pathogenic | 10 | 90707135 | 90707135 | C | A | criteria provided, multiple submitters, no conflicts | - |
single nucleotide variant | NM_001613.4(ACTA2):c.115C>G (p.Arg39Gly) | ACTA2 | Pathogenic/Likely pathogenic | 10 | 90708573 | 90708573 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA006808 |
single nucleotide variant | NM_001613.4(ACTA2):c.116G>A (p.Arg39His) | ACTA2 | Pathogenic/Likely pathogenic | 10 | 90708572 | 90708572 | C | T | criteria provided, multiple submitters, no conflicts | UniProtKB:P62736#VAR_062577,ClinGen:CA006825 |
single nucleotide variant | NM_001613.4(ACTA2):c.353G>A (p.Arg118Gln) | ACTA2 | Pathogenic/Likely pathogenic | 10 | 90703570 | 90703570 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA006909,UniProtKB:P62736#VAR_045916 |
single nucleotide variant | NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys) | ACTA2 | Pathogenic/Likely pathogenic | 10 | 90708573 | 90708573 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA006817,OMIM:102620.0005 |
single nucleotide variant | NM_001613.4(ACTA2):c.635G>A (p.Arg212Gln) | ACTA2 | Pathogenic/Likely pathogenic | 10 | 90699437 | 90699437 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA006985,UniProtKB:P62736#VAR_062580 |
single nucleotide variant | NM_001613.4(ACTA2):c.773G>A (p.Arg258His) | ACTA2 | Pathogenic/Likely pathogenic | 10 | 90699299 | 90699299 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA007026,UniProtKB:P62736#VAR_045921,OMIM:102620.0002 |
single nucleotide variant | NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys) | ACTA2 | Pathogenic | 10 | 90701067 | 90701067 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588483,OMIM:102620.0008 |
single nucleotide variant | NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn) | RNF213 | Pathogenic | 17 | 78341825 | 78341825 | G | A | criteria provided, single submitter | ClinGen:CA130465,OMIM:613768.0003 |
single nucleotide variant | NM_001613.4(ACTA2):c.536G>A (p.Arg179His) | ACTA2 | Pathogenic | 10 | 90701066 | 90701066 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA006970,UniProtKB:P62736#VAR_064516,OMIM:102620.0004 |