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.1540T>C (p.Cys514Arg)	TGFBR2	Likely pathogenic	3	30732927	30732927	T	C	criteria provided, single submitter	ClinGen:CA020708,UniProtKB:P37173#VAR_066730
single nucleotide variant	NM_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)	TGFBR2	Likely pathogenic	3	30729974	30729974	G	T	criteria provided, single submitter	ClinGen:CA020693
single nucleotide variant	NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)	TGFBR2	Likely pathogenic	3	30715724	30715724	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020670
Deletion	NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del)	TGFBR2	Likely pathogenic	3	30732933	30732944	GTGAGACGTTGAC	G	criteria provided, single submitter	ClinGen:CA10575669
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_002474.3(MYH11):c.1619G>A (p.Trp540Ter)	MYH11	Likely pathogenic	16	15850328	15850328	C	T	criteria provided, single submitter	ClinGen:CA306495
single nucleotide variant	NM_002474.3(MYH11):c.868G>C (p.Gly290Arg)	MYH11	Likely pathogenic	16	15869956	15869956	C	G	criteria provided, single submitter	ClinGen:CA306647
single nucleotide variant	NM_003242.6(TGFBR2):c.998T>A (p.Leu333Gln)	TGFBR2	Likely pathogenic	3	30713673	30713673	T	A	criteria provided, single submitter	ClinGen:CA324102
single nucleotide variant	NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser)	TGFBR2	Likely pathogenic	3	30713795	30713795	C	T	criteria provided, single submitter	ClinGen:CA320627