single nucleotide variant | NM_001613.4(ACTA2):c.446G>T (p.Arg149Leu) | ACTA2 | Likely pathogenic | 10 | 90701550 | 90701550 | C | A | criteria provided, single submitter | ClinGen:CA006944 |
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_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 |
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.772C>T (p.Arg258Cys) | ACTA2 | Pathogenic | 10 | 90699300 | 90699300 | G | A | criteria provided, multiple submitters, no conflicts | UniProtKB:P62736#VAR_045920,OMIM:102620.0003,ClinGen:CA007017 |
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 |
Deletion | NM_001613.4(ACTA2):c.991-1del | ACTA2 | Likely pathogenic | 10 | 90695124 | 90695124 | TC | T | criteria provided, single submitter | - |
single nucleotide variant | NM_001613.4(ACTA2):c.991-1G>C | ACTA2 | Likely pathogenic | 10 | 90695124 | 90695124 | C | G | criteria provided, single submitter | ClinGen:CA007075 |
single nucleotide variant | NM_001256071.3(RNF213):c.12553A>G (p.Lys4185Glu) | RNF213 | Likely pathogenic | 17 | 78346336 | 78346336 | A | G | criteria provided, single submitter | - |
single nucleotide variant | NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe) | RNF213 | Likely pathogenic | 17 | 78341847 | 78341847 | G | T | criteria provided, single submitter | - |