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_000023.10:g.(?_31792057)_(31893510_?)del	DMD	Pathogenic	X	31792057	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31792057)_(31950364_?)del	DMD	Pathogenic	X	31792057	31950364	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31947693)_(31950364_?)del	DMD	Pathogenic	X	31947693	31950364	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32342080)_(32518151_?)del	DMD	Pathogenic	X	32360197	32536268	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32697850)_(32823850_?)del	DMD	Likely pathogenic	X	32715967	32841967	na	na	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.9881_9890del (p.Trp3294fs)	DMD	Pathogenic	X	31200939	31200948	GACGGGCAGCC	G	criteria provided, single submitter	ClinGen:CA658658953
single nucleotide variant	NM_004006.3(DMD):c.9649+1G>A	DMD	Pathogenic	X	31224698	31224698	C	T	criteria provided, single submitter	ClinGen:CA412649342
Deletion	NM_004006.3(DMD):c.8675del (p.Pro2892fs)	DMD	Pathogenic	X	31496485	31496485	AG	A	criteria provided, single submitter	ClinGen:CA658658950
single nucleotide variant	NM_004006.3(DMD):c.7098+1G>T	DMD	Pathogenic	X	31893304	31893304	C	A	criteria provided, single submitter	ClinGen:CA412659855
Deletion	NM_004006.3(DMD):c.6913-11_6918del	DMD	Likely pathogenic	X	31893485	31893501	TGGAAACCTGAAAGGAAA	T	criteria provided, single submitter	ClinGen:CA658658947