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
single nucleotide variant	NM_004006.3(DMD):c.10086+1G>T	DMD	Pathogenic	X	31198486	31198486	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412652981,LOVD 3:DMD_000062,OMIM:300377.0024,ClinVar:11234
Deletion	NM_004006.3(DMD):c.7052_7053del (p.Gln2350_Leu2351insTer)	DMD	Pathogenic	X	31893350	31893351	CCA	C	criteria provided, single submitter	ClinGen:CA658799673
Deletion	NM_004006.3(DMD):c.5548_5552del (p.Lys1850fs)	DMD	Pathogenic	X	32364094	32364098	CTGTTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799689
single nucleotide variant	NM_004006.3(DMD):c.1255G>T (p.Glu419Ter)	DMD	Pathogenic	X	32662325	32662325	C	A	criteria provided, single submitter	ClinGen:CA412661073
single nucleotide variant	NM_001267550.2(TTN):c.56153G>A (p.Trp18718Ter)	TTN	Likely pathogenic	2	179464475	179464475	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA349534533
single nucleotide variant	NM_004006.3(DMD):c.8647A>T (p.Lys2883Ter)	DMD	Pathogenic	X	31497121	31497121	T	A	criteria provided, single submitter	ClinGen:CA412654472
Deletion	NM_004006.3(DMD):c.4295del (p.Gln1432fs)	DMD	Pathogenic	X	32408237	32408237	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799659
single nucleotide variant	NM_004006.3(DMD):c.283G>T (p.Gly95Ter)	DMD	Pathogenic	X	32841486	32841486	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412674570
single nucleotide variant	NM_004006.3(DMD):c.649+5G>T	DMD	Pathogenic	X	32827605	32827605	C	A	criteria provided, single submitter	ClinGen:CA658799666
Deletion	NM_004006.3(DMD):c.2132del (p.Lys711fs)	DMD	Pathogenic	X	32563312	32563312	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799667