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.2294_2297del (p.Ala765fs)	DMD	Pathogenic	X	32519955	32519958	TATGG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266927
single nucleotide variant	NM_004006.3(DMD):c.2332C>T (p.Gln778Ter)	DMD	Pathogenic	X	32519920	32519920	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266928
single nucleotide variant	NM_004006.3(DMD):c.2380+1G>C	DMD	Pathogenic	X	32519871	32519871	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA266931
single nucleotide variant	NM_004006.3(DMD):c.2381-1G>T	DMD	Pathogenic/Likely pathogenic	X	32509636	32509636	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266933
single nucleotide variant	NM_004006.3(DMD):c.2419C>T (p.Gln807Ter)	DMD	Pathogenic	X	32509597	32509597	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266934
single nucleotide variant	NM_004006.3(DMD):c.2436G>A (p.Trp812Ter)	DMD	Pathogenic	X	32509580	32509580	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.2518C>T (p.Gln840Ter)	DMD	Pathogenic	X	32509498	32509498	G	A	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.251del (p.Leu84fs)	DMD	Pathogenic	X	32862913	32862913	CA	C	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.2547del (p.Glu850fs)	DMD	Pathogenic	X	32509469	32509469	CA	C	criteria provided, single submitter	ClinGen:CA266947
single nucleotide variant	NM_004006.3(DMD):c.2622+1G>A	DMD	Pathogenic	X	32509393	32509393	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266948