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_001849.4(COL6A2):c.1522-1G>A	COL6A2	Pathogenic	21	47542021	47542021	G	A	criteria provided, single submitter	ClinGen:CA221814
single nucleotide variant	NM_001849.4(COL6A2):c.855+2T>G	COL6A2	Pathogenic	21	47535841	47535841	T	G	criteria provided, single submitter	ClinGen:CA221843
single nucleotide variant	NM_004006.3(DMD):c.10033C>T (p.Arg3345Ter)	DMD	Pathogenic	X	31198540	31198540	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266851
single nucleotide variant	NM_004006.3(DMD):c.10086+1G>A	DMD	Pathogenic	X	31198486	31198486	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266854
single nucleotide variant	NM_004006.3(DMD):c.1012G>T (p.Glu338Ter)	DMD	Pathogenic	X	32663218	32663218	C	A	criteria provided, single submitter	ClinGen:CA266855
single nucleotide variant	NM_004006.3(DMD):c.10171C>T (p.Arg3391Ter)	DMD	Pathogenic	X	31196838	31196838	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA266859
single nucleotide variant	NM_004006.3(DMD):c.10192C>T (p.Gln3398Ter)	DMD	Pathogenic	X	31196817	31196817	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_004006.3(DMD):c.10223+1G>A	DMD	Pathogenic	X	31196785	31196785	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA266865,OMIM:300377.0068
Duplication	NM_004006.3(DMD):c.10258dup (p.Ser3420fs)	DMD	Pathogenic	X	31196052	31196053	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA266867
Deletion	NM_004006.3(DMD):c.10447_10448del (p.Ser3483fs)	DMD	Pathogenic	X	31187665	31187666	GGA	G	criteria provided, single submitter	ClinGen:CA266868