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.1663C>T (p.Gln555Ter)	DMD	Pathogenic	X	32591903	32591903	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347473
single nucleotide variant	NM_004006.3(DMD):c.1483-1G>C	DMD	Pathogenic	X	32613994	32613994	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA347502
single nucleotide variant	NM_004006.3(DMD):c.1388G>A (p.Trp463Ter)	DMD	Pathogenic	X	32632514	32632514	C	T	criteria provided, single submitter	ClinGen:CA347470
single nucleotide variant	NM_004006.3(DMD):c.1331+1G>A	DMD	Pathogenic	X	32662248	32662248	C	T	criteria provided, single submitter	ClinGen:CA347557
single nucleotide variant	NM_004006.3(DMD):c.1324C>T (p.Gln442Ter)	DMD	Pathogenic	X	32662256	32662256	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347498
Deletion	NM_004006.3(DMD):c.1150-2del	DMD	Pathogenic	X	32662432	32662432	CT	C	criteria provided, single submitter	ClinGen:CA347589
single nucleotide variant	NM_004006.3(DMD):c.358-2A>G	DMD	Pathogenic	X	32834759	32834759	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA347561
single nucleotide variant	NM_004006.3(DMD):c.355C>T (p.Gln119Ter)	DMD	Pathogenic	X	32841414	32841414	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347503
Duplication	NM_004006.3(DMD):c.282dup (p.Gly95fs)	DMD	Pathogenic	X	32841486	32841487	C	CA	criteria provided, single submitter	ClinGen:CA347492
Deletion	NM_004006.3(DMD):c.280del (p.Ile94fs)	DMD	Pathogenic	X	32841489	32841489	AT	A	criteria provided, single submitter	ClinGen:CA347536