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.1006T>G (p.Tyr336Asp)	TGFBR2	Pathogenic	3	30713681	30713681	T	G	criteria provided, single submitter	ClinGen:CA351808352
single nucleotide variant	NM_003242.6(TGFBR2):c.1346C>G (p.Ser449Cys)	TGFBR2	Pathogenic	3	30715688	30715688	C	G	criteria provided, single submitter	ClinGen:CA16611314
single nucleotide variant	NM_003242.6(TGFBR2):c.1531C>T (p.Gln511Ter)	TGFBR2	Likely pathogenic	3	30732918	30732918	C	T	criteria provided, single submitter	ClinGen:CA16611191
single nucleotide variant	NM_003242.6(TGFBR2):c.1381T>C (p.Cys461Arg)	TGFBR2	Pathogenic	3	30715723	30715723	T	C	criteria provided, single submitter	ClinGen:CA351809141
single nucleotide variant	NM_003242.6(TGFBR2):c.1610G>A (p.Arg537His)	TGFBR2	Likely pathogenic	3	30732997	30732997	G	A	criteria provided, single submitter	ClinGen:CA16604407
single nucleotide variant	NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)	TGFBR2	Pathogenic/Likely pathogenic	3	30715678	30715678	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P37173#VAR_066725,ClinGen:CA10588355
single nucleotide variant	NM_003242.6(TGFBR2):c.1261A>G (p.Thr421Ala)	TGFBR2	Pathogenic	3	30715603	30715603	A	G	criteria provided, single submitter	ClinGen:CA10587570
single nucleotide variant	NM_003242.6(TGFBR2):c.1178G>A (p.Cys393Tyr)	TGFBR2	Pathogenic	3	30713853	30713853	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587569
single nucleotide variant	NM_003242.6(TGFBR2):c.1136A>T (p.Asp379Val)	TGFBR2	Pathogenic	3	30713811	30713811	A	T	criteria provided, single submitter	ClinGen:CA10587568
single nucleotide variant	NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn)	TGFBR2	Likely pathogenic	3	30713864	30713864	G	A	criteria provided, single submitter	ClinGen:CA10587567