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.824A>G (p.Gln275Arg)	TGFBR1	Likely pathogenic	9	101904836	101904836	A	G	criteria provided, single submitter	ClinGen:CA319831
single nucleotide variant	NM_004612.4(TGFBR1):c.820A>G (p.Thr274Ala)	TGFBR1	Likely pathogenic	9	101904832	101904832	A	G	criteria provided, single submitter	ClinGen:CA323920
Deletion	NC_000009.12:g.(?_99137839)_(99138109_?)del	TGFBR1	Likely pathogenic	9	101900121	101900391	na	na	criteria provided, single submitter	-
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_004612.4(TGFBR1):c.781G>T (p.Gly261Ter)	TGFBR1	Pathogenic	9	101900347	101900347	G	T	criteria provided, single submitter	ClinGen:CA374230291
single nucleotide variant	NM_004612.4(TGFBR1):c.758T>C (p.Met253Thr)	TGFBR1	Likely pathogenic	9	101900324	101900324	T	C	criteria provided, single submitter	ClinGen:CA321603
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_004612.4(TGFBR1):c.733G>T (p.Glu245Ter)	TGFBR1	Pathogenic	9	101900299	101900299	G	T	criteria provided, single submitter	ClinGen:CA374229855
single nucleotide variant	NM_004612.4(TGFBR1):c.724T>C (p.Trp242Arg)	TGFBR1	Likely pathogenic	9	101900290	101900290	T	C	criteria provided, single submitter	ClinGen:CA324960
single nucleotide variant	NM_004612.4(TGFBR1):c.722C>T (p.Ser241Leu)	TGFBR1	Pathogenic/Likely pathogenic	9	101900288	101900288	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008855,UniProtKB:P36897#VAR_029482,OMIM:190181.0005