筋ジストロフィー

小児・神経疾患

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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.1465C>T (p.Gln489Ter)	DMD	Pathogenic	X	32632437	32632437	G	A	criteria provided, single submitter	ClinGen:CA266890
single nucleotide variant	NM_004006.3(DMD):c.1482+1G>T	DMD	Pathogenic	X	32632419	32632419	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266893
single nucleotide variant	NM_004006.3(DMD):c.1615C>T (p.Arg539Ter)	DMD	Pathogenic	X	32591951	32591951	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266898
Deletion	NM_004006.3(DMD):c.1734del (p.Glu579fs)	DMD	Pathogenic	X	32591725	32591725	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1886C>A (p.Ser629Ter)	DMD	Pathogenic	X	32583925	32583925	G	T	criteria provided, single submitter	ClinGen:CA266902
single nucleotide variant	NM_004006.3(DMD):c.1900A>T (p.Lys634Ter)	DMD	Pathogenic	X	32583911	32583911	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.1990C>T (p.Gln664Ter)	DMD	Pathogenic	X	32583821	32583821	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266909
single nucleotide variant	NM_004006.3(DMD):c.2032C>T (p.Gln678Ter)	DMD	Pathogenic	X	32563412	32563412	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266915
Deletion	NM_004006.3(DMD):c.2125del (p.Gln709fs)	DMD	Pathogenic	X	32563319	32563319	TG	T	criteria provided, single submitter	ClinGen:CA266920
Deletion	NM_004006.3(DMD):c.2281_2285del (p.Glu761fs)	DMD	Pathogenic	X	32536132	32536136	TTTTTC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266926