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.(?_31609621)_(31774212_?)del	DMD	Pathogenic	X	31627738	31792329	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31676087)_(31747885_?)dup	DMD	Likely pathogenic	X	31676087	31747885	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31679355)_(31679606_?)del	DMD	Pathogenic	X	31697472	31697723	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31729611)_(31932247_?)del	DMD	Pathogenic	X	31747728	31950364	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31932060)_(31968534_?)del	DMD	Pathogenic	X	31950177	31986651	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32216896)_(32365219_?)del	DMD	Pathogenic	X	32235013	32383336	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32287509)_(32390201_?)del	DMD	Pathogenic	X	32305626	32408318	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32563256)_(32591983_?)dup	DMD	Pathogenic	X	32563256	32591983	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.8655C>A (p.Tyr2885Ter)	DMD	Pathogenic	X	31497113	31497113	G	T	criteria provided, single submitter	-
Duplication	NM_004006.3(DMD):c.5455_5459dup (p.Asn1820fs)	DMD	Pathogenic	X	32364186	32364187	A	ATTGTC	criteria provided, multiple submitters, no conflicts	-