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_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.1381T>C (p.Cys461Arg)	TGFBR2	Pathogenic	3	30715723	30715723	T	C	criteria provided, single submitter	ClinGen:CA351809141
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
Deletion	NM_053025.4(MYLK):c.4489_4493del (p.Ala1497fs)	MYLK	Pathogenic	3	123366197	123366201	ATATGC	A	criteria provided, single submitter	ClinGen:CA16611214
single nucleotide variant	NM_003242.6(TGFBR2):c.1346C>G (p.Ser449Cys)	TGFBR2	Pathogenic	3	30715688	30715688	C	G	criteria provided, single submitter	ClinGen:CA16611314
single nucleotide variant	NM_004612.4(TGFBR1):c.469C>T (p.Arg157Ter)	TGFBR1	Pathogenic	9	101894916	101894916	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612807
single nucleotide variant	NM_004612.4(TGFBR1):c.944A>G (p.His315Arg)	TGFBR1	Pathogenic	9	101904956	101904956	A	G	criteria provided, single submitter	ClinGen:CA16612814
single nucleotide variant	NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu)	TGFBR1	Pathogenic/Likely pathogenic	9	101900266	101900266	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16612911