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
single nucleotide variant	NM_004006.3(DMD):c.9224+1G>A	DMD	Pathogenic	X	31341714	31341714	C	T	criteria provided, single submitter	-
Deletion	NM_004006.2(DMD):c.7309+12789_7490del	DMD	Likely pathogenic	X	31792129	31825303	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3679C>T (p.Gln1227Ter)	DMD	Pathogenic	X	32466680	32466680	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1619G>A (p.Trp540Ter)	DMD	Pathogenic	X	32591947	32591947	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)	COL6A2	Pathogenic	21	47540981	47540981	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000022.10:g.(?_34022208)_(34157483_?)del	LARGE1	Pathogenic	22	34022208	34157483	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31323578)_(31508257_?)del	DMD	Pathogenic	X	31341695	31526374	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31609584)_(31968514_?)del	DMD	Pathogenic	X	31627701	31986631	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31609621)_(31875393_?)del	DMD	Pathogenic	X	31627738	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31729611)_(31774212_?)del	DMD	Pathogenic	X	31747728	31792329	na	na	criteria provided, single submitter	-