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
Duplication	NM_001849.4(COL6A2):c.2988dup (p.Phe997fs)	COL6A2	Pathogenic	21	47552393	47552394	T	TG	criteria provided, single submitter	ClinGen:CA658658898
Duplication	NM_004006.3(DMD):c.8604dup (p.Val2869fs)	DMD	Pathogenic	X	31497163	31497164	C	CA	criteria provided, single submitter	ClinGen:CA658658951
single nucleotide variant	NM_004006.3(DMD):c.6424A>T (p.Lys2142Ter)	DMD	Pathogenic	X	32235047	32235047	T	A	criteria provided, single submitter	ClinGen:CA412660494
single nucleotide variant	NM_004006.3(DMD):c.831+1G>A	DMD	Pathogenic	X	32717228	32717228	C	T	criteria provided, single submitter	ClinGen:CA412668778
single nucleotide variant	NM_004006.3(DMD):c.186+1G>A	DMD	Pathogenic	X	32867844	32867844	C	T	criteria provided, single submitter	ClinGen:CA412674811
Deletion	NM_004006.3(DMD):c.19del (p.Glu6_Val7insTer)	DMD	Pathogenic	X	33229411	33229411	AC	A	criteria provided, single submitter	ClinGen:CA658658959
Duplication	NC_000023.10:g.(?_31196029)_(31201041_?)dup	DMD	Likely pathogenic	X	31196029	31201041	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31444461)_(31679606_?)del	DMD	Pathogenic	X	31462578	31697723	na	na	criteria provided, single submitter	-
Deletion	NC_000023.11:g.(?_31773940)_(32217083_?)del	DMD	Pathogenic	X	31792057	32235200	na	na	criteria provided, single submitter	-
Deletion	NC_000023.10:g.(?_31838072)_(31893510_?)del	DMD	Pathogenic	X	31838072	31893510	na	na	criteria provided, single submitter	-