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.2804-1G>T	DMD	Pathogenic	X	32490427	32490427	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412668289
single nucleotide variant	NM_004006.3(DMD):c.686T>G (p.Leu229Ter)	DMD	Pathogenic	X	32717374	32717374	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412669106
Deletion	NC_000023.11:g.(?_31348536)_(31479123_?)del	DMD	Pathogenic	X	31366653	31497240	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31836698)_(31875393_?)del	DMD	Pathogenic	X	31854815	31893510	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31875168)_(31932247_?)del	DMD	Pathogenic	X	31893285	31950364	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31875168)_(31968534_?)del	DMD	Pathogenic	X	31893285	31986651	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31875168)_(33339285_?)del	DMD	Pathogenic	X	31893285	33357402	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31929576)_(32365219_?)del	DMD	Pathogenic	X	31947693	32383336	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32216896)_(32501862_?)del	DMD	Pathogenic	X	32235013	32519979	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32536105)_(33038337_?)dup	DMD	Pathogenic	X	32536105	33038337	na	na	criteria provided, single submitter	-