筋ジストロフィー

小児・神経疾患

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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
Deletion	NC_000023.11:g.(?_32216896)_(32454852_?)del	DMD	Pathogenic	X	32235013	32472969	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32438221)_(32849840_?)del	DMD	Pathogenic	X	32456338	32867957	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32697850)_(32849840_?)del	DMD	Pathogenic	X	32715967	32867957	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32715967)_(32867957_?)dup	DMD	Likely pathogenic	X	32715967	32867957	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32809473)_(32816660_?)del	DMD	Pathogenic	X	32827590	32834777	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32841392)_(32841524_?)dup	DMD	Likely pathogenic	X	32841392	32841524	na	na	criteria provided, single submitter	-
Duplication	NM_001159699.2(FHL1):c.406_409dup (p.Val137fs)	FHL1	Pathogenic	X	135289975	135289976	G	GGACC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000117.3(EMD):c.607del (p.Arg203fs)	EMD	Pathogenic	X	153609397	153609397	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.5154+2T>C	DMD	Likely pathogenic	X	32382697	32382697	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.531-1G>C	DMD	Pathogenic	X	32827729	32827729	C	G	criteria provided, multiple submitters, no conflicts	-