家族性胸部大動脈瘤・解離

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
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
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.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.991-1G>C	ACTA2	Likely pathogenic	10	90695124	90695124	C	G	criteria provided, single submitter	ClinGen:CA007075
single nucleotide variant	NM_006258.4(PRKG1):c.575G>A (p.Arg192Gln)	PRKG1	Pathogenic	10	53227579	53227579	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA144806,UniProtKB:Q13976#VAR_070434,OMIM:176894.0001
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