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.3076G>T (p.Glu1026Ter)	DMD	Pathogenic	X	32486701	32486701	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.31+1G>T	DMD	Pathogenic	X	33229398	33229398	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266984,OMIM:300377.0025
single nucleotide variant	NM_004006.3(DMD):c.3151C>T (p.Arg1051Ter)	DMD	Pathogenic	X	32486626	32486626	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266988
single nucleotide variant	NM_004006.3(DMD):c.3276+1G>A	DMD	Pathogenic/Likely pathogenic	X	32482702	32482702	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266993
single nucleotide variant	NM_004006.3(DMD):c.3295C>T (p.Gln1099Ter)	DMD	Pathogenic	X	32481693	32481693	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266994
single nucleotide variant	NM_004006.3(DMD):c.336G>A (p.Trp112Ter)	DMD	Pathogenic	X	32841433	32841433	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266997
single nucleotide variant	NM_004006.3(DMD):c.3432+1G>A	DMD	Pathogenic	X	32481555	32481555	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA267000
single nucleotide variant	NM_004006.3(DMD):c.3432+3A>G	DMD	Pathogenic/Likely pathogenic	X	32481553	32481553	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA267001
single nucleotide variant	NM_004006.3(DMD):c.3433-1G>A	DMD	Pathogenic	X	32472950	32472950	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3580C>T (p.Gln1194Ter)	DMD	Pathogenic	X	32472802	32472802	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267006