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
Deletion	NC_000023.11:g.(?_31819955)_(31820103_?)del	DMD	Pathogenic	X	31838072	31838220	na	na	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.1795del (p.Ser599fs)	DMD	Pathogenic	X	32591664	32591664	CT	C	criteria provided, single submitter	ClinGen:CA658799676
Duplication	NC_000023.10:g.(?_31838072)_(31983146_?)dup	DMD	Likely pathogenic	X	31838072	31983146	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_31838072)_(32563471_?)dup	DMD	Likely pathogenic	X	31838072	32563471	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31836698)_(32365219_?)del	DMD	Pathogenic	X	31854815	32383336	na	na	criteria provided, single submitter	-
Duplication	NC_000023.10:g.(?_32235013)_(32408318_?)dup	DMD	Likely pathogenic	X	32235013	32408318	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32614283)_(32849840_?)del	DMD	Pathogenic	X	32632400	32867957	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_32809473)_(32849840_?)del	DMD	Pathogenic	X	32827590	32867957	na	na	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.356del (p.Gln119fs)	DMD	Pathogenic	X	32841413	32841413	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799685
single nucleotide variant	NM_004006.3(DMD):c.323T>C (p.Leu108Pro)	DMD	Likely pathogenic	X	32841446	32841446	A	G	criteria provided, single submitter	ClinGen:CA412674484