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.6472_6473del (p.Val2158fs)	DMD	Pathogenic	X	31986597	31986598	AAC	A	criteria provided, single submitter	ClinGen:CA658799670
single nucleotide variant	NM_004006.3(DMD):c.2968C>T (p.Gln990Ter)	DMD	Pathogenic	X	32486809	32486809	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412667159
single nucleotide variant	NM_004006.3(DMD):c.5407C>T (p.Gln1803Ter)	DMD	Pathogenic	X	32366564	32366564	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA412667762
single nucleotide variant	NM_001849.4(COL6A2):c.1000-1G>T	COL6A2	Pathogenic	21	47537313	47537313	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA410527297
Inversion	NM_001849.4(COL6A2):c.1000-2_1000-1inv	COL6A2	Pathogenic	21	47537312	47537313	AG	CT	criteria provided, single submitter	ClinGen:CA658799474
Deletion	NM_004006.3(DMD):c.6651_6652del (p.Asp2219fs)	DMD	Pathogenic	X	31950307	31950308	CTT	C	criteria provided, single submitter	ClinGen:CA658799675
single nucleotide variant	NM_004006.3(DMD):c.4495C>T (p.Gln1499Ter)	DMD	Pathogenic	X	32407641	32407641	G	A	criteria provided, single submitter	ClinGen:CA10378944
Deletion	NM_001848.3(COL6A1):c.1056+1del	COL6A1	Pathogenic/Likely pathogenic	21	47410741	47410741	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799470
single nucleotide variant	NM_004006.3(DMD):c.5713G>T (p.Glu1905Ter)	DMD	Pathogenic	X	32361277	32361277	C	A	criteria provided, single submitter	ClinGen:CA412665669
Deletion	NM_004006.3(DMD):c.4290_4291del (p.His1430fs)	DMD	Pathogenic	X	32408241	32408242	TTA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA658799660