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.9974+2T>A	DMD	Pathogenic	X	31200853	31200853	A	T	criteria provided, single submitter	LOVD 3:DMD_000006,OMIM:300377.0006
single nucleotide variant	NM_004006.3(DMD):c.10108C>T (p.Arg3370Ter)	DMD	Pathogenic	X	31196901	31196901	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273073,OMIM:300377.0007
single nucleotide variant	NM_004006.3(DMD):c.6955C>T (p.Gln2319Ter)	DMD	Pathogenic	X	31893448	31893448	G	A	criteria provided, single submitter	ClinGen:CA341025,OMIM:300377.0014
single nucleotide variant	NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)	DMD	Pathogenic	X	32519950	32519950	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273097,OMIM:300377.0015
single nucleotide variant	NM_004006.3(DMD):c.433C>T (p.Arg145Ter)	DMD	Pathogenic	X	32834682	32834682	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273103,OMIM:300377.0032
single nucleotide variant	NM_004006.3(DMD):c.2017C>T (p.Gln673Ter)	DMD	Pathogenic	X	32563427	32563427	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341037,OMIM:300377.0023
single nucleotide variant	NM_004006.3(DMD):c.178C>T (p.Gln60Ter)	DMD	Pathogenic	X	32867853	32867853	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341040,OMIM:300377.0029
single nucleotide variant	NM_004006.3(DMD):c.724C>T (p.Gln242Ter)	DMD	Pathogenic	X	32717336	32717336	G	A	criteria provided, single submitter	ClinGen:CA341043,OMIM:300377.0036
single nucleotide variant	NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)	DMD	Pathogenic	X	32613987	32613987	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341052,OMIM:300377.0041
single nucleotide variant	NM_004006.3(DMD):c.1952G>A (p.Trp651Ter)	DMD	Pathogenic	X	32583859	32583859	C	T	criteria provided, single submitter	ClinGen:CA273100,OMIM:300377.0043