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_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
single nucleotide variant	NM_012186.3(FOXE3):c.244A>G (p.Met82Val)	FOXE3	Pathogenic/Likely pathogenic	1	47882231	47882231	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_003242.6(TGFBR2):c.1576G>C (p.Glu526Gln)	TGFBR2	Pathogenic	3	30732963	30732963	G	C	criteria provided, single submitter	OMIM:190182.0003,ClinGen:CA020721,UniProtKB:P37173#VAR_015816
single nucleotide variant	NM_003242.6(TGFBR2):c.1524G>A (p.Gln508=)	TGFBR2	Pathogenic	3	30730003	30730003	G	A	criteria provided, single submitter	ClinGen:CA020701,OMIM:190182.0004
single nucleotide variant	NM_003242.6(TGFBR2):c.1609C>T (p.Arg537Cys)	TGFBR2	Pathogenic/Likely pathogenic	3	30732996	30732996	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020742,UniProtKB:P37173#VAR_022362,OMIM:190182.0007
single nucleotide variant	NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)	TGFBR2	Pathogenic	3	30732970	30732970	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020730,UniProtKB:P37173#VAR_022361,OMIM:190182.0011
single nucleotide variant	NM_003242.6(TGFBR2):c.1582C>T (p.Arg528Cys)	TGFBR2	Pathogenic	3	30732969	30732969	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020726,UniProtKB:P37173#VAR_022360,OMIM:190182.0012
single nucleotide variant	NM_003242.6(TGFBR2):c.1378C>T (p.Arg460Cys)	TGFBR2	Pathogenic	3	30715720	30715720	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020661,UniProtKB:P37173#VAR_029760,OMIM:190182.0014