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.831G>T (p.Lys277Asn)	TGFBR2	Pathogenic	3	30713506	30713506	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587565
Deletion	NM_003242.6(TGFBR2):c.1529del (p.Ile510fs)	TGFBR2	Likely pathogenic	3	30732916	30732916	AT	A	criteria provided, single submitter	ClinGen:CA10582148
single nucleotide variant	NM_003242.6(TGFBR2):c.1271A>G (p.Tyr424Cys)	TGFBR2	Pathogenic	3	30715613	30715613	A	G	criteria provided, single submitter	ClinGen:CA10582147
single nucleotide variant	NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp)	TGFBR2	Likely pathogenic	3	30713727	30713727	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351866
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_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_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.1279C>T (p.Pro427Ser)	TGFBR2	Likely pathogenic	3	30715621	30715621	C	T	criteria provided, single submitter	ClinGen:CA319801
single nucleotide variant	NM_003242.6(TGFBR2):c.1277C>A (p.Ala426Asp)	TGFBR2	Pathogenic	3	30715619	30715619	C	A	criteria provided, single submitter	ClinGen:CA323900
single nucleotide variant	NM_003242.6(TGFBR2):c.1276G>A (p.Ala426Thr)	TGFBR2	Pathogenic	3	30715618	30715618	G	A	criteria provided, single submitter	ClinGen:CA321583