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
Deletion	NM_002317.7(LOX):c.1131+1_1131+6del	LOX	Pathogenic/Likely pathogenic	5	121406183	121406188	TCTTTAC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16618096
single nucleotide variant	NM_004612.4(TGFBR1):c.680A>T (p.Glu227Val)	TGFBR1	Likely pathogenic	9	101900246	101900246	A	T	criteria provided, single submitter	ClinGen:CA16618918
single nucleotide variant	NM_053025.4(MYLK):c.3985+5G>T	MYLK	Pathogenic	3	123382947	123382947	C	A	criteria provided, single submitter	ClinGen:CA645509140,OMIM:600922.0004
single nucleotide variant	NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys)	FOXE3	Likely pathogenic	1	47882297	47882297	C	T	criteria provided, single submitter	ClinGen:CA340249497
single nucleotide variant	NM_001613.4(ACTA2):c.137T>G (p.Met46Arg)	ACTA2	Likely pathogenic	10	90707136	90707136	A	C	criteria provided, single submitter	ClinGen:CA377513550
Deletion	NM_053025.4(MYLK):c.3265_3266del (p.Lys1089fs)	MYLK	Pathogenic	3	123419049	123419050	CTT	C	criteria provided, single submitter	ClinGen:CA658657332
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.1181G>A (p.Cys394Tyr)	TGFBR2	Likely pathogenic	3	30713856	30713856	G	A	criteria provided, single submitter	ClinGen:CA351808708
single nucleotide variant	NM_003242.6(TGFBR2):c.1259G>T (p.Gly420Val)	TGFBR2	Likely pathogenic	3	30715601	30715601	G	T	criteria provided, single submitter	ClinGen:CA351808880
single nucleotide variant	NM_003242.6(TGFBR2):c.1397-1G>A	TGFBR2	Pathogenic	3	30729875	30729875	G	A	criteria provided, single submitter	ClinGen:CA351809182