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.2650C>T (p.Gln884Ter)	DMD	Pathogenic	X	32503189	32503189	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266949
single nucleotide variant	NM_004006.3(DMD):c.2758C>T (p.Gln920Ter)	DMD	Pathogenic	X	32503081	32503081	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_004006.3(DMD):c.2803+1G>T	DMD	Pathogenic	X	32503035	32503035	C	A	criteria provided, single submitter	ClinGen:CA266956
single nucleotide variant	NM_004006.3(DMD):c.2804-1G>A	DMD	Pathogenic	X	32490427	32490427	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266957
single nucleotide variant	NM_004006.3(DMD):c.2816T>A (p.Leu939Ter)	DMD	Pathogenic	X	32490414	32490414	A	T	criteria provided, single submitter	ClinGen:CA266958
single nucleotide variant	NM_004006.3(DMD):c.2866C>T (p.Gln956Ter)	DMD	Pathogenic	X	32490364	32490364	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_004006.3(DMD):c.28del (p.Cys10fs)	DMD	Pathogenic	X	33229402	33229402	CA	C	criteria provided, single submitter	ClinGen:CA266964
single nucleotide variant	NM_004006.3(DMD):c.2950-2A>G	DMD	Pathogenic	X	32486829	32486829	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.2954T>A (p.Leu985Ter)	DMD	Pathogenic	X	32486823	32486823	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.3059C>G (p.Ser1020Ter)	DMD	Pathogenic	X	32486718	32486718	G	C	criteria provided, single submitter	-