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_003242.6(TGFBR2):c.1495G>T (p.Glu499Ter)	TGFBR2	Likely pathogenic	3	30729974	30729974	G	T	criteria provided, single submitter	ClinGen:CA020693
single nucleotide variant	NM_002474.3(MYH11):c.4578+1G>T	MYH11	Pathogenic	16	15815278	15815278	C	A	criteria provided, single submitter	OMIM:160745.0001,ClinVar:14131
single nucleotide variant	NM_001613.4(ACTA2):c.115C>T (p.Arg39Cys)	ACTA2	Pathogenic/Likely pathogenic	10	90708573	90708573	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA006817,OMIM:102620.0005
single nucleotide variant	NM_006258.4(PRKG1):c.575G>A (p.Arg192Gln)	PRKG1	Pathogenic	10	53227579	53227579	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA144806,UniProtKB:Q13976#VAR_070434,OMIM:176894.0001
single nucleotide variant	NM_003242.6(TGFBR2):c.1382G>A (p.Cys461Tyr)	TGFBR2	Likely pathogenic	3	30715724	30715724	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020670
single nucleotide variant	NM_003480.4(MFAP5):c.472C>T (p.Arg158Ter)	MFAP5	Pathogenic/Likely pathogenic	12	8800737	8800737	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA295245,OMIM:601103.0001
Deletion	NM_003242.6(TGFBR2):c.1546_1557del (p.Thr516_Glu519del)	TGFBR2	Likely pathogenic	3	30732933	30732944	GTGAGACGTTGAC	G	criteria provided, single submitter	ClinGen:CA10575669
single nucleotide variant	NM_003242.6(TGFBR2):c.859T>C (p.Trp287Arg)	TGFBR2	Pathogenic/Likely pathogenic	3	30713534	30713534	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020788
single nucleotide variant	NM_003242.6(TGFBR2):c.1067G>C (p.Arg356Pro)	TGFBR2	Pathogenic	3	30713742	30713742	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020594