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.1261A>G (p.Thr421Ala)	TGFBR2	Pathogenic	3	30715603	30715603	A	G	criteria provided, single submitter	ClinGen:CA10587570
Deletion	NM_004612.4(TGFBR1):c.71_75del (p.Ala24fs)	TGFBR1	Pathogenic	9	101867557	101867561	GGCGGC	G	criteria provided, single submitter	ClinGen:CA10587680
single nucleotide variant	NM_004612.4(TGFBR1):c.757A>G (p.Met253Val)	TGFBR1	Pathogenic/Likely pathogenic	9	101900323	101900323	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10587682
Duplication	NM_004612.4(TGFBR1):c.1302_1303dup (p.Asp435fs)	TGFBR1	Pathogenic	9	101909981	101909982	C	CTG	criteria provided, single submitter	ClinGen:CA10587687
single nucleotide variant	NM_003242.6(TGFBR2):c.1336G>A (p.Asp446Asn)	TGFBR2	Pathogenic/Likely pathogenic	3	30715678	30715678	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P37173#VAR_066725,ClinGen:CA10588355
single nucleotide variant	NM_001613.4(ACTA2):c.535C>T (p.Arg179Cys)	ACTA2	Pathogenic	10	90701067	90701067	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10588483,OMIM:102620.0008
single nucleotide variant	NM_002317.7(LOX):c.125G>A (p.Trp42Ter)	LOX	Likely pathogenic	5	121413556	121413556	C	T	criteria provided, single submitter	ClinGen:CA10590102,OMIM:153455.0003
single nucleotide variant	NM_053025.4(MYLK):c.4459C>T (p.Arg1487Ter)	MYLK	Pathogenic	3	123366231	123366231	G	A	criteria provided, single submitter	ClinGen:CA354227306
single nucleotide variant	NM_002474.3(MYH11):c.4578+1G>A	MYH11	Pathogenic/Likely pathogenic	16	15815278	15815278	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16043053
single nucleotide variant	NM_002474.3(MYH11):c.4360G>C (p.Asp1454His)	MYH11	Likely pathogenic	16	15818023	15818023	C	G	criteria provided, single submitter	ClinGen:CA16043500