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_000117.3(EMD):c.130C>T (p.Gln44Ter)	EMD	Pathogenic	X	153608097	153608097	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA121384,OMIM:300384.0006
single nucleotide variant	NM_000117.3(EMD):c.548C>A (p.Pro183His)	EMD	Pathogenic	X	153609340	153609340	C	A	criteria provided, single submitter	ClinGen:CA121387,UniProtKB:P50402#VAR_005199,OMIM:300384.0008
single nucleotide variant	NM_004006.3(DMD):c.2791G>T (p.Glu931Ter)	DMD	Pathogenic	X	32503048	32503048	C	A	criteria provided, single submitter	ClinGen:CA341019,OMIM:300377.0003
single nucleotide variant	NM_004006.3(DMD):c.5551C>T (p.Gln1851Ter)	DMD	Pathogenic	X	32364095	32364095	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA341022,OMIM:300377.0004
single nucleotide variant	NM_004006.3(DMD):c.8944C>T (p.Arg2982Ter)	DMD	Pathogenic	X	31462738	31462738	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273079,OMIM:300377.0005
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