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.1420T>C (p.Cys474Arg)	TGFBR1	Likely pathogenic	9	101911495	101911495	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA323032
single nucleotide variant	NM_003242.6(TGFBR2):c.1052G>A (p.Gly351Asp)	TGFBR2	Likely pathogenic	3	30713727	30713727	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA351866
Deletion	NM_003242.6(TGFBR2):c.1529del (p.Ile510fs)	TGFBR2	Likely pathogenic	3	30732916	30732916	AT	A	criteria provided, single submitter	ClinGen:CA10582148
single nucleotide variant	NM_003242.6(TGFBR2):c.1189G>A (p.Asp397Asn)	TGFBR2	Likely pathogenic	3	30713864	30713864	G	A	criteria provided, single submitter	ClinGen:CA10587567
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_002474.3(MYH11):c.4360G>C (p.Asp1454His)	MYH11	Likely pathogenic	16	15818023	15818023	C	G	criteria provided, single submitter	ClinGen:CA16043500
single nucleotide variant	NM_012186.3(FOXE3):c.224C>T (p.Ser75Leu)	FOXE3	Likely pathogenic	1	47882211	47882211	C	T	criteria provided, single submitter	ClinGen:CA16603754
single nucleotide variant	NM_003242.6(TGFBR2):c.1610G>A (p.Arg537His)	TGFBR2	Likely pathogenic	3	30732997	30732997	G	A	criteria provided, single submitter	ClinGen:CA16604407
single nucleotide variant	NM_004612.4(TGFBR1):c.1460G>T (p.Arg487Leu)	TGFBR1	Likely pathogenic	9	101911535	101911535	G	T	criteria provided, single submitter	ClinGen:CA16605939
single nucleotide variant	NM_003242.6(TGFBR2):c.1531C>T (p.Gln511Ter)	TGFBR2	Likely pathogenic	3	30732918	30732918	C	T	criteria provided, single submitter	ClinGen:CA16611191