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.1609C>T (p.Arg537Cys)	TGFBR2	Pathogenic/Likely pathogenic	3	30732996	30732996	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020742,UniProtKB:P37173#VAR_022362,OMIM:190182.0007
Deletion	NC_000016.10:g.(?_15703981)_(15838262_?)del	MYH11	Pathogenic	16	15797838	15932119	na	na	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_99105186)_(99105322_?)del	TGFBR1	Pathogenic	9	101867468	101867604	na	na	criteria provided, single submitter	-
Deletion	NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs)	MYH11	Pathogenic	16	15813496	15813497	CTT	C	criteria provided, single submitter	-
Deletion	NC_000009.12:g.(?_99105186)_(99221914_?)del	TGFBR1	Pathogenic	9	101867468	101984196	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_003242.6(TGFBR2):c.1130A>G (p.His377Arg)	TGFBR2	Pathogenic	3	30713805	30713805	A	G	criteria provided, single submitter	ClinGen:CA351808600
single nucleotide variant	NM_003242.6(TGFBR2):c.1379G>T (p.Arg460Leu)	TGFBR2	Pathogenic	3	30715721	30715721	G	T	criteria provided, single submitter	ClinGen:CA351809138
single nucleotide variant	NM_053025.4(MYLK):c.3823C>T (p.Arg1275Ter)	MYLK	Pathogenic	3	123385074	123385074	G	A	criteria provided, single submitter	ClinGen:CA354230241
Duplication	NM_053025.4(MYLK):c.4001dup (p.Ala1335fs)	MYLK	Pathogenic	3	123376259	123376260	T	TG	criteria provided, single submitter	ClinGen:CA658796365
Duplication	NM_004612.4(TGFBR1):c.633_635dup (p.Gly212dup)	TGFBR1	Pathogenic	9	101900198	101900199	T	TTGG	criteria provided, single submitter	ClinGen:CA658797254