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
Duplication	NC_000023.10:g.(?_32632410)_(33038327_?)dup	DMD	Pathogenic	X	32632410	33038327	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32849718)_(32849830_?)del	DMD	Pathogenic	X	32867835	32867947	na	na	criteria provided, single submitter	-
Deletion	NC_000019.10:g.(?_46755431)_(46756958_?)del	FKRP	Pathogenic	19	47258688	47260215	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.4846-1G>T	DMD	Likely pathogenic	X	32383317	32383317	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1705-2A>G	DMD	Pathogenic/Likely pathogenic	X	32591756	32591756	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.831+1G>C	DMD	Pathogenic	X	32717228	32717228	C	G	criteria provided, single submitter	-
Deletion	NM_001848.3(COL6A1):c.1576-2_1576-1del	COL6A1	Likely pathogenic	21	47418310	47418311	CAG	C	criteria provided, single submitter	-
Deletion	NC_000022.11:g.(?_33761361)_(33761486_?)del	LARGE1	Pathogenic	22	34157348	34157473	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31609621)_(31774202_?)del	DMD	Pathogenic	X	31627738	31792319	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31729621)_(31729758_?)del	DMD	Pathogenic	X	31747738	31747875	na	na	criteria provided, single submitter	-