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.998T>A (p.Leu333Gln)	TGFBR2	Likely pathogenic	3	30713673	30713673	T	A	criteria provided, single submitter	ClinGen:CA324102
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.1051G>C (p.Gly351Arg)	TGFBR2	Likely pathogenic	3	30713726	30713726	G	C	criteria provided, single submitter	ClinGen:CA351808443
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.1067G>C (p.Arg356Pro)	TGFBR2	Pathogenic	3	30713742	30713742	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020594
single nucleotide variant	NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser)	TGFBR2	Likely pathogenic	3	30713795	30713795	C	T	criteria provided, single submitter	ClinGen:CA320627
single nucleotide variant	NM_003242.6(TGFBR2):c.1130A>G (p.His377Arg)	TGFBR2	Pathogenic	3	30713805	30713805	A	G	criteria provided, single submitter	ClinGen:CA351808600
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.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.1181G>A (p.Cys394Tyr)	TGFBR2	Likely pathogenic	3	30713856	30713856	G	A	criteria provided, single submitter	ClinGen:CA351808708