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.1336G>A (p.Asp446Asn)	TGFBR2	Pathogenic/Likely pathogenic	3	30715678	30715678	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P37173#VAR_066725,ClinGen:CA10588355
single nucleotide variant	NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)	TGFBR1	Pathogenic/Likely pathogenic	9	101900323	101900323	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587682
single nucleotide variant	NM_002317.7(LOX):c.893T>G (p.Met298Arg)	LOX	Pathogenic/Likely pathogenic	5	121409850	121409850	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10576645,OMIM:153455.0005
single nucleotide variant	NM_003242.6(TGFBR2):c.1408T>G (p.Tyr470Asp)	TGFBR2	Pathogenic/Likely pathogenic	3	30729887	30729887	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA321611
single nucleotide variant	NM_004612.4(TGFBR1):c.934G>A (p.Gly312Ser)	TGFBR1	Pathogenic/Likely pathogenic	9	101904946	101904946	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA043448
single nucleotide variant	NM_004612.4(TGFBR1):c.797A>G (p.Asp266Gly)	TGFBR1	Pathogenic/Likely pathogenic	9	101900363	101900363	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA322019
single nucleotide variant	NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)	TGFBR2	Pathogenic/Likely pathogenic	3	30729968	30729968	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA323609,OMIM:190182.0020
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_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