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.757G>A (p.Gly253Ser)	TGFBR2	Likely pathogenic	3	30713432	30713432	G	A	criteria provided, single submitter	-
Deletion	NC_000016.10:g.(?_15823235)_(15838272_?)del	MYH11	Pathogenic	16	15917092	15932129	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002474.3(MYH11):c.726+1G>A	MYH11	Likely pathogenic	16	15876241	15876241	C	T	criteria provided, single submitter	ClinGen:CA7922844
single nucleotide variant	NM_002474.3(MYH11):c.868G>C (p.Gly290Arg)	MYH11	Likely pathogenic	16	15869956	15869956	C	G	criteria provided, single submitter	ClinGen:CA306647
single nucleotide variant	NM_002474.3(MYH11):c.1619G>A (p.Trp540Ter)	MYH11	Likely pathogenic	16	15850328	15850328	C	T	criteria provided, single submitter	ClinGen:CA306495
Deletion	NM_002474.3(MYH11):c.2809_2810del (p.Arg937fs)	MYH11	Pathogenic	16	15835369	15835370	CCT	C	criteria provided, single submitter	ClinGen:CA277177,OMIM:160745.0007
Deletion	NM_002474.3(MYH11):c.3422_3470del (p.Lys1141fs)	MYH11	Pathogenic	16	15829259	15829307	GTCTTCCAGCTCTGTCTTTAGGGCCTCCAGCTCCTCGCCGAGGTCTCGCT	G	criteria provided, single submitter	ClinGen:CA277406,OMIM:160745.0008
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_002474.3(MYH11):c.4401C>G (p.Tyr1467Ter)	MYH11	Pathogenic	16	15815456	15815456	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_002474.3(MYH11):c.4578+1G>C	MYH11	Pathogenic/Likely pathogenic	16	15815278	15815278	C	G	criteria provided, multiple submitters, no conflicts	-