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.(?_32287519)_(32310286_?)del	DMD	Pathogenic	X	32305636	32328403	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32305636)_(32366860_?)dup	DMD	Likely pathogenic	X	32305636	32366860	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32472144)_(32651077_?)del	DMD	Pathogenic	X	32490261	32669194	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32472154)_(32651077_?)del	DMD	Pathogenic	X	32490271	32669194	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32484899)_(32849840_?)del	DMD	Pathogenic	X	32503016	32867957	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32509374)_(32509655_?)dup	DMD	Pathogenic	X	32509374	32509655	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31332523)_(31525580_?)dup	DMD	Pathogenic	X	31332523	31525580	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32536115)_(32632580_?)dup	DMD	Likely pathogenic	X	32536115	32632580	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32827600)_(32834767_?)dup	DMD	Pathogenic	X	32827600	32834767	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31613687)_(31645989_?)dup	DMD	Likely pathogenic	X	31613687	31645989	na	na	criteria provided, single submitter	-