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.3427C>T (p.Gln1143Ter)	DMD	Pathogenic	X	32481561	32481561	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347507
single nucleotide variant	NM_004006.3(DMD):c.2991C>G (p.Tyr997Ter)	DMD	Pathogenic	X	32486786	32486786	G	C	criteria provided, single submitter	ClinGen:CA347538
single nucleotide variant	NM_004006.3(DMD):c.2804-2A>C	DMD	Pathogenic	X	32490428	32490428	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA347584
single nucleotide variant	NM_004006.3(DMD):c.2797C>T (p.Gln933Ter)	DMD	Pathogenic	X	32503042	32503042	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347495
single nucleotide variant	NM_004006.3(DMD):c.2623-3C>G	DMD	Pathogenic	X	32503219	32503219	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA347541
single nucleotide variant	NM_004006.3(DMD):c.2611A>T (p.Lys871Ter)	DMD	Pathogenic	X	32509405	32509405	T	A	criteria provided, single submitter	ClinGen:CA347479
single nucleotide variant	NM_004006.3(DMD):c.2407C>T (p.Gln803Ter)	DMD	Pathogenic	X	32509609	32509609	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347577
single nucleotide variant	NM_004006.3(DMD):c.2368C>T (p.Gln790Ter)	DMD	Pathogenic	X	32519884	32519884	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347527
single nucleotide variant	NM_004006.3(DMD):c.2215G>T (p.Glu739Ter)	DMD	Pathogenic	X	32536202	32536202	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA347467
single nucleotide variant	NM_004006.3(DMD):c.1683G>A (p.Trp561Ter)	DMD	Pathogenic	X	32591883	32591883	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347533