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.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.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.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.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.46T>C (p.Ser16Pro)	ACTA2	Likely pathogenic	10	90708642	90708642	A	G	criteria provided, single submitter	ClinGen:CA377513755
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.138G>T (p.Met46Ile)	ACTA2	Pathogenic/Likely pathogenic	10	90707135	90707135	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter)	FOXE3	Pathogenic	1	47882707	47882707	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA119630,OMIM:601094.0002,OMIM:601094.0004
single nucleotide variant	NM_012186.3(FOXE3):c.224C>T (p.Ser75Leu)	FOXE3	Likely pathogenic	1	47882211	47882211	C	T	criteria provided, single submitter	ClinGen:CA16603754
single nucleotide variant	NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys)	FOXE3	Likely pathogenic	1	47882297	47882297	C	T	criteria provided, single submitter	ClinGen:CA340249497