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_001848.3(COL6A1):c.842G>A (p.Gly281Glu)	COL6A1	Pathogenic	21	47409035	47409035	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603503
single nucleotide variant	NM_001849.4(COL6A2):c.2422+1G>A	COL6A2	Pathogenic	21	47546152	47546152	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603558
single nucleotide variant	NM_004006.3(DMD):c.6290+1G>C	DMD	Pathogenic	X	32305645	32305645	C	G	criteria provided, single submitter	ClinGen:CA10603583
single nucleotide variant	NM_001849.4(COL6A2):c.244C>T (p.Gln82Ter)	COL6A2	Pathogenic	21	47532021	47532021	C	T	criteria provided, single submitter	ClinGen:CA10603684
single nucleotide variant	NM_004006.3(DMD):c.1865C>G (p.Ser622Ter)	DMD	Pathogenic	X	32583946	32583946	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603723
Indel	NM_013382.7(POMT2):c.1045_1052delinsG (p.Arg349fs)	POMT2	Pathogenic	14	77762571	77762578	GCCATCCG	C	criteria provided, single submitter	ClinGen:CA10603802
single nucleotide variant	NM_000117.3(EMD):c.3G>A (p.Met1Ile)	EMD	Pathogenic	X	153607847	153607847	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603810
single nucleotide variant	NM_004006.3(DMD):c.31+36947G>A	DMD	Pathogenic/Likely pathogenic	X	33192452	33192452	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603815
single nucleotide variant	NM_004006.3(DMD):c.8217+18052A>G	DMD	Likely pathogenic	X	31627738	31627738	T	C	criteria provided, single submitter	ClinGen:CA10603817
single nucleotide variant	NM_004006.3(DMD):c.5032C>T (p.Gln1678Ter)	DMD	Pathogenic	X	32382821	32382821	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10603873