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_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)	TGFBR2	Pathogenic/Likely pathogenic	3	30732957	30732957	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020712
single nucleotide variant	NM_004612.4(TGFBR1):c.1444A>G (p.Arg482Gly)	TGFBR1	Pathogenic	9	101911519	101911519	A	G	criteria provided, single submitter	ClinGen:CA008762
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_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.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.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.115C>G (p.Arg39Gly)	ACTA2	Pathogenic/Likely pathogenic	10	90708573	90708573	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA006808
Duplication	NM_002474.3(MYH11):c.4578+2dup	MYH11	Pathogenic/Likely pathogenic	16	15815276	15815277	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA306672
single nucleotide variant	NM_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter)	MYH11	Pathogenic	16	15815456	15815456	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_002474.3(MYH11):c.1619G>A (p.Trp540Ter)	MYH11	Likely pathogenic	16	15850328	15850328	C	T	criteria provided, single submitter	ClinGen:CA306495