特発性拡張型心筋症

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.186+1G>A	DMD	Pathogenic	X	32867844	32867844	C	T	criteria provided, single submitter	ClinGen:CA412674811
Deletion	NM_004006.3(DMD):c.19del (p.Glu6_Val7insTer)	DMD	Pathogenic	X	33229411	33229411	AC	A	criteria provided, single submitter	ClinGen:CA658658959
Duplication	NC_000023.10:g.(?_31196029)_(31201041_?)dup	DMD	Likely pathogenic	X	31196029	31201041	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31444461)_(31679606_?)del	DMD	Pathogenic	X	31462578	31697723	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31773940)_(32217083_?)del	DMD	Pathogenic	X	31792057	32235200	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31838072)_(31893510_?)del	DMD	Pathogenic	X	31838072	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31838072)_(31986651_?)del	DMD	Pathogenic	X	31838072	31986651	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31854815)_(31986651_?)del	DMD	Pathogenic	X	31854815	31986651	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32235013)_(32490446_?)dup	DMD	Pathogenic	X	32235013	32490446	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32216896)_(32651077_?)del	DMD	Pathogenic	X	32235013	32669194	na	na	criteria provided, single submitter	-