特発性拡張型心筋症

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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.(?_31627738)_(31747885_?)del	DMD	Pathogenic	X	31627738	31747885	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31627738)_(31838220_?)dup	DMD	Pathogenic	X	31627738	31838220	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31747728)_(31893510_?)dup	DMD	Pathogenic	X	31747728	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31747728)_(31986651_?)del	DMD	Pathogenic	X	31747728	31986651	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31819955)_(31932247_?)del	DMD	Pathogenic	X	31838072	31950364	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31947693)_(31986651_?)del	DMD	Pathogenic	X	31947693	31986651	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32632400)_(32632590_?)dup	DMD	Pathogenic	X	32632400	32632590	na	na	criteria provided, single submitter	-
Duplication	NM_004006.3(DMD):c.8604dup (p.Val2869fs)	DMD	Pathogenic	X	31497163	31497164	C	CA	criteria provided, single submitter	ClinGen:CA658658951
single nucleotide variant	NM_004006.3(DMD):c.6424A>T (p.Lys2142Ter)	DMD	Pathogenic	X	32235047	32235047	T	A	criteria provided, single submitter	ClinGen:CA412660494
single nucleotide variant	NM_004006.3(DMD):c.831+1G>A	DMD	Pathogenic	X	32717228	32717228	C	T	criteria provided, single submitter	ClinGen:CA412668778