筋ジストロフィー

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.8209C>T (p.Gln2737Ter)	DMD	Pathogenic	X	31645798	31645798	G	A	criteria provided, single submitter	ClinGen:CA16616487
single nucleotide variant	NM_004006.3(DMD):c.5110G>T (p.Glu1704Ter)	DMD	Pathogenic	X	32382743	32382743	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616488
single nucleotide variant	NM_004006.3(DMD):c.4858G>T (p.Glu1620Ter)	DMD	Pathogenic	X	32383304	32383304	C	A	criteria provided, single submitter	ClinGen:CA16616490
Indel	NM_004006.3(DMD):c.7241_7243delinsGTTT (p.Asn2414fs)	DMD	Pathogenic	X	31838158	31838160	GGT	AAAC	criteria provided, single submitter	ClinGen:CA16616492
Deletion	NM_004006.3(DMD):c.7068_7069del (p.Gln2356fs)	DMD	Pathogenic	X	31893334	31893335	GGT	G	criteria provided, single submitter	ClinGen:CA16616493
Deletion	NM_004006.3(DMD):c.6662del (p.Asn2221fs)	DMD	Pathogenic	X	31950297	31950297	AT	A	criteria provided, single submitter	ClinGen:CA16616495
single nucleotide variant	NM_004006.3(DMD):c.4071+1G>A	DMD	Pathogenic	X	32456357	32456357	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616496
single nucleotide variant	NM_004006.3(DMD):c.6614+2T>C	DMD	Pathogenic	X	31986454	31986454	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616497
single nucleotide variant	NM_004006.3(DMD):c.2665C>T (p.Arg889Ter)	DMD	Pathogenic	X	32503174	32503174	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16616505
single nucleotide variant	NM_004006.3(DMD):c.2202G>A (p.Trp734Ter)	DMD	Pathogenic	X	32536215	32536215	C	T	criteria provided, single submitter	ClinGen:CA16616508