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.(?_31729625)_(31774198_?)del	DMD	Pathogenic	X	31747742	31792315	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31836698)_(31932247_?)del	DMD	Pathogenic	X	31854815	31950364	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31893285)_(32235200_?)dup	DMD	Pathogenic	X	31893285	32235200	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31929576)_(32217083_?)del	DMD	Pathogenic	X	31947693	32235200	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32438221)_(32614473_?)del	DMD	Pathogenic	X	32456338	32632590	na	na	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.8579del (p.Pro2860fs)	DMD	Pathogenic	X	31497189	31497189	AG	A	criteria provided, single submitter	ClinGen:CA658799644
single nucleotide variant	NM_004006.3(DMD):c.6408G>A (p.Trp2136Ter)	DMD	Pathogenic	X	32235063	32235063	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412660535
Deletion	NM_004006.2(DMD):c.6251_6290+12981del	DMD	Pathogenic	X	32292665	32305685	na	na	criteria provided, single submitter	-
Duplication	NM_004006.3(DMD):c.3388_3389dup (p.Leu1131fs)	DMD	Pathogenic	X	32481598	32481599	T	TTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799649
single nucleotide variant	NM_004006.3(DMD):c.3268C>T (p.Gln1090Ter)	DMD	Pathogenic	X	32482711	32482711	G	A	criteria provided, single submitter	ClinGen:CA412664712