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.5533G>T (p.Glu1845Ter)	DMD	Pathogenic	X	32364113	32364113	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.5024T>A (p.Leu1675Ter)	DMD	Pathogenic	X	32383138	32383138	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.2257G>T (p.Glu753Ter)	DMD	Pathogenic	X	32536160	32536160	C	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_004006.3(DMD):c.468delinsGG (p.Ile157fs)	DMD	Pathogenic	X	32834647	32834647	T	CC	criteria provided, single submitter	-
single nucleotide variant	NM_002880.4(RAF1):c.1467G>T (p.Leu489Phe)	RAF1	Likely pathogenic	3	12627249	12627249	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000335.5(SCN5A):c.784A>C (p.Ser262Arg)	SCN5A	Likely pathogenic	3	38651375	38651375	T	G	criteria provided, single submitter	ClinGen:CA073231
single nucleotide variant	NM_004006.3(DMD):c.1602G>A (p.Lys534=)	DMD	Pathogenic/Likely pathogenic	X	32613874	32613874	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.7660+1G>C	DMD	Pathogenic/Likely pathogenic	X	31747747	31747747	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000335.5(SCN5A):c.4891C>T (p.Arg1631Cys)	SCN5A	Pathogenic	3	38592969	38592969	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10582189
single nucleotide variant	NM_000257.4(MYH7):c.2114G>A (p.Cys705Tyr)	MYH7	Likely pathogenic	14	23895221	23895221	C	T	criteria provided, single submitter	-