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_002474.3(MYH11):c.4360G>C (p.Asp1454His)	MYH11	Likely pathogenic	16	15818023	15818023	C	G	criteria provided, single submitter	ClinGen:CA16043500
Deletion	NC_000016.10:g.(?_15703971)_(15838272_?)del	MYH11	Pathogenic	16	15797828	15932129	na	na	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.4578+1G>C	MYH11	Pathogenic/Likely pathogenic	16	15815278	15815278	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002474.3(MYH11):c.5027_5028del (p.Lys1676fs)	MYH11	Pathogenic	16	15813496	15813497	CTT	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	NC_000016.10:g.(?_15703981)_(15838262_?)del	MYH11	Pathogenic	16	15797838	15932119	na	na	criteria provided, single submitter	-