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.2949+1G>A	DMD	Pathogenic	X	32490280	32490280	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412667693
single nucleotide variant	NM_004006.3(DMD):c.2776C>T (p.Gln926Ter)	DMD	Pathogenic	X	32503063	32503063	G	A	criteria provided, single submitter	ClinGen:CA412670691
single nucleotide variant	NM_004006.3(DMD):c.9975-1G>A	DMD	Pathogenic	X	31198599	31198599	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA412653250
single nucleotide variant	NM_004006.3(DMD):c.5602A>T (p.Arg1868Ter)	DMD	Pathogenic	X	32361388	32361388	T	A	criteria provided, single submitter	ClinGen:CA412666426
single nucleotide variant	NM_004006.3(DMD):c.4231C>T (p.Gln1411Ter)	DMD	Pathogenic	X	32429871	32429871	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412665956
Deletion	NM_004006.3(DMD):c.10367del (p.Asn3456fs)	DMD	Pathogenic	X	31190492	31190492	AT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799633
Duplication	NM_004006.3(DMD):c.857dup (p.Tyr286Ter)	DMD	Pathogenic	X	32716089	32716090	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799703
Duplication	NM_004006.3(DMD):c.656dup (p.Asp219fs)	DMD	Pathogenic	X	32717403	32717404	A	AT	criteria provided, single submitter	ClinGen:CA658799704
single nucleotide variant	NM_004006.3(DMD):c.5266C>T (p.Gln1756Ter)	DMD	Pathogenic	X	32380964	32380964	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412671117
Deletion	NC_000023.11:g.(?_31657970)_(31774212_?)del	DMD	Pathogenic	X	31676087	31792329	na	na	criteria provided, single submitter	-