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_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_004612.4(TGFBR1):c.1420T>C (p.Cys474Arg)	TGFBR1	Likely pathogenic	9	101911495	101911495	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA323032
single nucleotide variant	NM_004612.4(TGFBR1):c.1303G>C (p.Asp435His)	TGFBR1	Likely pathogenic	9	101909983	101909983	G	C	criteria provided, single submitter	-
Duplication	NM_004612.4(TGFBR1):c.1302_1303dup (p.Asp435fs)	TGFBR1	Pathogenic	9	101909981	101909982	C	CTG	criteria provided, single submitter	ClinGen:CA10587687
single nucleotide variant	NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter)	TGFBR1	Pathogenic	9	101908876	101908876	C	T	criteria provided, single submitter	ClinGen:CA008738,OMIM:190181.0012
single nucleotide variant	NM_004612.4(TGFBR1):c.1061T>C (p.Leu354Pro)	TGFBR1	Likely pathogenic	9	101907101	101907101	T	C	criteria provided, single submitter	ClinGen:CA374231501
single nucleotide variant	NM_004612.4(TGFBR1):c.1052A>C (p.Asp351Ala)	TGFBR1	Likely pathogenic	9	101907092	101907092	A	C	criteria provided, single submitter	ClinGen:CA322591
single nucleotide variant	NM_004612.4(TGFBR1):c.944A>G (p.His315Arg)	TGFBR1	Pathogenic	9	101904956	101904956	A	G	criteria provided, single submitter	ClinGen:CA16612814
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.860C>A (p.Ser287Tyr)	TGFBR1	Likely pathogenic	9	101904872	101904872	C	A	criteria provided, single submitter	-