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.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
single nucleotide variant	NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)	DMD	Pathogenic	X	31224780	31224780	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273076,OMIM:300377.0076
single nucleotide variant	NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter)	DMD	Pathogenic	X	32456489	32456489	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255776,OMIM:300377.0077
Deletion	NM_004006.3(DMD):c.377del (p.Asn126fs)	DMD	Pathogenic	X	32834738	32834738	AT	A	criteria provided, single submitter	OMIM:300377.0078
single nucleotide variant	NM_004006.3(DMD):c.9225-285A>G	DMD	Pathogenic	X	31279418	31279418	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA255779,OMIM:300377.0080
single nucleotide variant	NM_004006.3(DMD):c.8713C>T (p.Arg2905Ter)	DMD	Pathogenic	X	31496447	31496447	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA273082,OMIM:300377.0082