家族性胸部大動脈瘤・解離

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.1338T>G (p.Asp446Glu)	TGFBR2	Likely pathogenic	3	30715680	30715680	T	G	criteria provided, single submitter	ClinGen:CA321430
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
single nucleotide variant	NM_004612.4(TGFBR1):c.696G>C (p.Lys232Asn)	TGFBR1	Likely pathogenic	9	101900262	101900262	G	C	criteria provided, single submitter	ClinGen:CA325117
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.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.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.820A>G (p.Thr274Ala)	TGFBR1	Likely pathogenic	9	101904832	101904832	A	G	criteria provided, single submitter	ClinGen:CA323920
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.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.1052A>C (p.Asp351Ala)	TGFBR1	Likely pathogenic	9	101907092	101907092	A	C	criteria provided, single submitter	ClinGen:CA322591