single nucleotide variant | NM_001256071.3(RNF213):c.12059G>T (p.Cys4020Phe) | RNF213 | Likely pathogenic | 17 | 78341847 | 78341847 | G | T | criteria provided, single submitter | - |
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.12037G>A (p.Asp4013Asn) | RNF213 | Pathogenic | 17 | 78341825 | 78341825 | G | A | criteria provided, single submitter | ClinGen:CA130465,OMIM:613768.0003 |
single nucleotide variant | NM_001130682.3(GUCY1A1):c.1909C>T (p.Arg637Ter) | GUCY1A1 | Likely pathogenic | 4 | 156651219 | 156651219 | C | T | criteria provided, single submitter | ClinGen:CA16042480 |
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 | - |
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.46T>C (p.Ser16Pro) | ACTA2 | Likely pathogenic | 10 | 90708642 | 90708642 | A | G | criteria provided, single submitter | ClinGen:CA377513755 |
single nucleotide variant | NM_001613.4(ACTA2):c.146T>C (p.Met49Thr) | ACTA2 | Likely pathogenic | 10 | 90707127 | 90707127 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA377513533 |
single nucleotide variant | NM_001613.4(ACTA2):c.137T>G (p.Met46Arg) | ACTA2 | Likely pathogenic | 10 | 90707136 | 90707136 | A | C | criteria provided, single submitter | ClinGen:CA377513550 |
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 |