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.2308A>T (p.Lys770Ter)	DMD	Pathogenic	X	32519944	32519944	T	A	criteria provided, single submitter	ClinGen:CA341055,OMIM:300377.0044
single nucleotide variant	NM_004006.3(DMD):c.3121C>T (p.Gln1041Ter)	DMD	Pathogenic	X	32486656	32486656	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273094,OMIM:300377.0048
single nucleotide variant	NM_004006.3(DMD):c.3188G>A (p.Trp1063Ter)	DMD	Pathogenic	X	32482791	32482791	C	T	criteria provided, single submitter	ClinGen:CA341061,OMIM:300377.0049
single nucleotide variant	NM_004006.3(DMD):c.4213C>T (p.Gln1405Ter)	DMD	Pathogenic	X	32429889	32429889	G	A	criteria provided, single submitter	ClinGen:CA341064,OMIM:300377.0050
single nucleotide variant	NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter)	DMD	Pathogenic	X	32407722	32407722	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341067,OMIM:300377.0051
single nucleotide variant	NM_004006.3(DMD):c.5899C>T (p.Arg1967Ter)	DMD	Pathogenic	X	32360240	32360240	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273091,OMIM:300377.0052
single nucleotide variant	NM_004006.3(DMD):c.6292C>T (p.Arg2098Ter)	DMD	Pathogenic	X	32235179	32235179	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273088,OMIM:300377.0054
single nucleotide variant	NM_004006.3(DMD):c.6373C>T (p.Gln2125Ter)	DMD	Pathogenic	X	32235098	32235098	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273085,OMIM:300377.0055
single nucleotide variant	NM_004006.3(DMD):c.9197C>A (p.Ser3066Ter)	DMD	Pathogenic	X	31341742	31341742	G	T	criteria provided, single submitter	ClinGen:CA341076,OMIM:300377.0064
single nucleotide variant	NM_004006.3(DMD):c.10141C>T (p.Arg3381Ter)	DMD	Pathogenic	X	31196868	31196868	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273070,OMIM:300377.0067