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_004612.4(TGFBR1):c.230T>G (p.Leu77Ter)	TGFBR1	Pathogenic	9	101891269	101891269	T	G	criteria provided, single submitter	ClinGen:CA374225763
Deletion	NC_000016.10:g.(?_15823235)_(15838272_?)del	MYH11	Pathogenic	16	15917092	15932129	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_15703971)_(15838272_?)del	MYH11	Pathogenic	16	15797828	15932129	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004612.4(TGFBR1):c.781G>T (p.Gly261Ter)	TGFBR1	Pathogenic	9	101900347	101900347	G	T	criteria provided, single submitter	ClinGen:CA374230291
single nucleotide variant	NM_004612.4(TGFBR1):c.733G>T (p.Glu245Ter)	TGFBR1	Pathogenic	9	101900299	101900299	G	T	criteria provided, single submitter	ClinGen:CA374229855
single nucleotide variant	NM_003242.6(TGFBR2):c.1397-1G>A	TGFBR2	Pathogenic	3	30729875	30729875	G	A	criteria provided, single submitter	ClinGen:CA351809182
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
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_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_004612.4(TGFBR1):c.944A>G (p.His315Arg)	TGFBR1	Pathogenic	9	101904956	101904956	A	G	criteria provided, single submitter	ClinGen:CA16612814