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
Deletion	NM_004006.3(DMD):c.2601_2602del (p.Gln869fs)	DMD	Pathogenic	X	32509414	32509415	CTT	C	criteria provided, single submitter	ClinGen:CA275097
single nucleotide variant	NM_004006.3(DMD):c.2479G>T (p.Glu827Ter)	DMD	Pathogenic	X	32509537	32509537	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA346862
single nucleotide variant	NM_001077365.2(POMT1):c.2004-1G>C	POMT1	Pathogenic	9	134398318	134398318	G	C	criteria provided, single submitter	ClinGen:CA278505
single nucleotide variant	NM_004006.3(DMD):c.2803+1G>C	DMD	Pathogenic	X	32503035	32503035	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA275105
single nucleotide variant	NM_004006.3(DMD):c.2804-2A>T	DMD	Pathogenic	X	32490428	32490428	T	A	criteria provided, single submitter	ClinGen:CA275111
Deletion	NM_004006.3(DMD):c.2815_2816del (p.Leu939fs)	DMD	Pathogenic	X	32490414	32490415	CAA	C	criteria provided, single submitter	ClinGen:CA275112
Deletion	NM_004006.3(DMD):c.3497_3500del (p.Leu1166fs)	DMD	Pathogenic	X	32472882	32472885	TGATA	T	criteria provided, single submitter	ClinGen:CA275140
single nucleotide variant	NM_004006.3(DMD):c.3535G>T (p.Glu1179Ter)	DMD	Pathogenic	X	32472847	32472847	C	A	criteria provided, single submitter	ClinGen:CA275141
single nucleotide variant	NM_004006.3(DMD):c.3838A>T (p.Lys1280Ter)	DMD	Pathogenic	X	32459380	32459380	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275150
single nucleotide variant	NM_004006.3(DMD):c.133C>T (p.Gln45Ter)	DMD	Pathogenic	X	32867898	32867898	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA275173