家族性胸部大動脈瘤・解離

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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
Deletion	NM_003242.6(TGFBR2):c.1446_1447del (p.Val484fs)	TGFBR2	Likely pathogenic	3	30729925	30729926	CCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter)	MYH11	Likely pathogenic	16	15814136	15814136	G	A	criteria provided, single submitter	-
Deletion	NM_001613.4(ACTA2):c.991-1del	ACTA2	Likely pathogenic	10	90695124	90695124	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_003242.6(TGFBR2):c.1510T>C (p.Trp504Arg)	TGFBR2	Likely pathogenic	3	30729989	30729989	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001613.4(ACTA2):c.138G>T (p.Met46Ile)	ACTA2	Pathogenic/Likely pathogenic	10	90707135	90707135	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000009.12:g.(?_99105186)_(99105322_?)del	TGFBR1	Pathogenic	9	101867468	101867604	na	na	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_15703981)_(15838262_?)del	MYH11	Pathogenic	16	15797838	15932119	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_012186.3(FOXE3):c.244A>G (p.Met82Val)	FOXE3	Pathogenic/Likely pathogenic	1	47882231	47882231	A	G	criteria provided, multiple submitters, no conflicts	-