筋ジストロフィー

小児・神経疾患

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	NC_000023.11:g.(?_32438231)_(32849830_?)del	DMD	Pathogenic	X	32456348	32867947	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32472769)_(32536267_?)dup	DMD	Likely pathogenic	X	32472769	32536267	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32517988)_(32518151_?)del	DMD	Pathogenic	X	32536105	32536268	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32595737)_(32595896_?)del	DMD	Pathogenic	X	32613854	32614013	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.9563+2T>A	DMD	Pathogenic	X	31227613	31227613	A	T	criteria provided, single submitter	-