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.8069T>G (p.Leu2690Ter)	DMD	Pathogenic	X	31645938	31645938	A	C	criteria provided, single submitter	ClinGen:CA267155
Deletion	NM_004006.3(DMD):c.8086del (p.Leu2696fs)	DMD	Pathogenic	X	31645921	31645921	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.831G>T (p.Gln277His)	DMD	Likely pathogenic	X	32717229	32717229	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.8358G>A (p.Trp2786Ter)	DMD	Pathogenic	X	31525430	31525430	C	T	criteria provided, single submitter	-
Deletion	NM_004006.3(DMD):c.8374_8375del (p.Lys2792fs)	DMD	Pathogenic	X	31525413	31525414	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA267162
single nucleotide variant	NM_004006.3(DMD):c.8443C>T (p.Gln2815Ter)	DMD	Pathogenic	X	31515009	31515009	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267163
single nucleotide variant	NM_004006.3(DMD):c.8608C>T (p.Arg2870Ter)	DMD	Pathogenic	X	31497160	31497160	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267169
Deletion	NM_004006.3(DMD):c.9125del (p.His3042fs)	DMD	Pathogenic	X	31366711	31366711	GT	G	criteria provided, single submitter	ClinGen:CA267177
single nucleotide variant	NM_004006.3(DMD):c.9225-647A>G	DMD	Pathogenic/Likely pathogenic	X	31279780	31279780	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA267181
single nucleotide variant	NM_004006.3(DMD):c.9337C>T (p.Arg3113Ter)	DMD	Pathogenic	X	31241188	31241188	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA267182