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.722C>T (p.Ser241Leu)	TGFBR1	Pathogenic/Likely pathogenic	9	101900288	101900288	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008855,UniProtKB:P36897#VAR_029482,OMIM:190181.0005
single nucleotide variant	NM_004612.4(TGFBR1):c.1460G>A (p.Arg487Gln)	TGFBR1	Pathogenic	9	101911535	101911535	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA008776,UniProtKB:P36897#VAR_029484,OMIM:190181.0006
single nucleotide variant	NM_004612.4(TGFBR1):c.1459C>T (p.Arg487Trp)	TGFBR1	Pathogenic/Likely pathogenic	9	101911534	101911534	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA008768,UniProtKB:P36897#VAR_029485,OMIM:190181.0007
single nucleotide variant	NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys)	ACTA2	Pathogenic	10	90701551	90701551	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006936,UniProtKB:P62736#VAR_045918,OMIM:102620.0001
single nucleotide variant	NM_001613.4(ACTA2):c.773G>A (p.Arg258His)	ACTA2	Pathogenic/Likely pathogenic	10	90699299	90699299	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA007026,UniProtKB:P62736#VAR_045921,OMIM:102620.0002
single nucleotide variant	NM_001613.4(ACTA2):c.772C>T (p.Arg258Cys)	ACTA2	Pathogenic	10	90699300	90699300	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P62736#VAR_045920,OMIM:102620.0003,ClinGen:CA007017
single nucleotide variant	NM_001613.4(ACTA2):c.536G>A (p.Arg179His)	ACTA2	Pathogenic	10	90701066	90701066	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006970,UniProtKB:P62736#VAR_064516,OMIM:102620.0004
single nucleotide variant	NM_004612.4(TGFBR1):c.1240C>T (p.Arg414Ter)	TGFBR1	Pathogenic	9	101908876	101908876	C	T	criteria provided, single submitter	ClinGen:CA008738,OMIM:190181.0012
single nucleotide variant	NM_053025.4(MYLK):c.4438C>T (p.Arg1480Ter)	MYLK	Pathogenic/Likely pathogenic	3	123366252	123366252	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA024849,OMIM:600922.0002
single nucleotide variant	NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg)	TGFBR2	Likely pathogenic	3	30732927	30732927	T	C	criteria provided, single submitter	ClinGen:CA020708,UniProtKB:P37173#VAR_066730