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_001613.4(ACTA2):c.635G>A (p.Arg212Gln)	ACTA2	Pathogenic/Likely pathogenic	10	90699437	90699437	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA006985,UniProtKB:P62736#VAR_062580
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_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.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.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
Deletion	NC_000009.12:g.(?_99105186)_(99105322_?)del	TGFBR1	Pathogenic	9	101867468	101867604	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004612.4(TGFBR1):c.1457T>C (p.Leu486Ser)	TGFBR1	Pathogenic/Likely pathogenic	9	101911532	101911532	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004612.4(TGFBR1):c.860C>A (p.Ser287Tyr)	TGFBR1	Likely pathogenic	9	101904872	101904872	C	A	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_99137839)_(99138109_?)del	TGFBR1	Likely pathogenic	9	101900121	101900391	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_99105186)_(99221914_?)del	TGFBR1	Pathogenic	9	101867468	101984196	na	na	criteria provided, single submitter	-