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.8782A>T (p.Lys2928Ter)	DMD	Pathogenic	X	31496378	31496378	T	A	criteria provided, single submitter	ClinGen:CA412654168
single nucleotide variant	NM_004006.3(DMD):c.8391-2A>G	DMD	Pathogenic/Likely pathogenic	X	31515063	31515063	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA412655700
single nucleotide variant	NM_004006.3(DMD):c.2485C>T (p.Gln829Ter)	DMD	Pathogenic/Likely pathogenic	X	32509531	32509531	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412672508
single nucleotide variant	NM_004006.3(DMD):c.2416G>T (p.Glu806Ter)	DMD	Pathogenic	X	32509600	32509600	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412672878
Deletion	NM_004006.3(DMD):c.1481del (p.Lys494fs)	DMD	Pathogenic	X	32632421	32632421	CT	C	criteria provided, single submitter	ClinGen:CA645509389
single nucleotide variant	NM_004006.3(DMD):c.2101G>T (p.Glu701Ter)	DMD	Pathogenic	X	32563343	32563343	C	A	criteria provided, single submitter	ClinGen:CA412667880
single nucleotide variant	NM_004006.3(DMD):c.4845+2T>G	DMD	Pathogenic	X	32398625	32398625	A	C	criteria provided, single submitter	ClinGen:CA412660874
single nucleotide variant	NM_004006.3(DMD):c.9560A>G (p.Asp3187Gly)	DMD	Pathogenic	X	31227618	31227618	T	C	criteria provided, single submitter	ClinGen:CA412649724
single nucleotide variant	NM_004006.3(DMD):c.7899G>A (p.Trp2633Ter)	DMD	Pathogenic	X	31676235	31676235	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412655998
single nucleotide variant	NM_004006.3(DMD):c.8880G>A (p.Trp2960Ter)	DMD	Pathogenic	X	31496280	31496280	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412653956