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.5641C>T (p.Gln1881Ter)	DMD	Pathogenic	X	32361349	32361349	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347542
Deletion	NM_004006.3(DMD):c.5602_5605del (p.Arg1868fs)	DMD	Pathogenic	X	32361385	32361388	CTTCT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA347483
single nucleotide variant	NM_004006.3(DMD):c.5461G>T (p.Glu1821Ter)	DMD	Pathogenic	X	32364185	32364185	C	A	criteria provided, single submitter	ClinGen:CA347548
single nucleotide variant	NM_004006.3(DMD):c.5350G>T (p.Glu1784Ter)	DMD	Pathogenic	X	32366621	32366621	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347488
single nucleotide variant	NM_004006.3(DMD):c.5131C>T (p.Gln1711Ter)	DMD	Pathogenic	X	32382722	32382722	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347522
Deletion	NM_004006.3(DMD):c.4918del (p.Thr1640fs)	DMD	Pathogenic	X	32383244	32383244	GT	G	criteria provided, single submitter	ClinGen:CA347484
single nucleotide variant	NM_004006.3(DMD):c.4729C>T (p.Arg1577Ter)	DMD	Pathogenic	X	32398743	32398743	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347565
single nucleotide variant	NM_004006.3(DMD):c.4606G>T (p.Glu1536Ter)	DMD	Pathogenic	X	32404495	32404495	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347530
single nucleotide variant	NM_004006.3(DMD):c.4240C>T (p.Gln1414Ter)	DMD	Pathogenic	X	32408292	32408292	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347511
Deletion	NM_004006.3(DMD):c.3433-5_3434del	DMD	Pathogenic	X	32472948	32472954	GACCTTCC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA347583