シャルコー・マリー・トゥース病

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_025137.4(SPG11):c.2068-2A>T	SPG11	Pathogenic	15	44918707	44918707	T	A	criteria provided, single submitter	ClinGen:CA392234032
single nucleotide variant	NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)	DNM2	Pathogenic	19	10934534	10934534	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA404041079
Duplication	NM_007254.4(PNKP):c.1215dup (p.Val406fs)	PNKP	Likely pathogenic	19	50365111	50365112	C	CA	criteria provided, single submitter	ClinGen:CA633894550
single nucleotide variant	NM_004208.4(AIFM1):c.710A>T (p.Asp237Val)	AIFM1	Likely pathogenic	X	129274579	129274579	T	A	criteria provided, single submitter	ClinGen:CA414583508
single nucleotide variant	NM_000166.6(GJB1):c.392T>G (p.Leu131Arg)	GJB1	Likely pathogenic	X	70443949	70443949	T	G	criteria provided, single submitter	ClinGen:CA413502146
single nucleotide variant	NM_000166.6(GJB1):c.423C>G (p.Phe141Leu)	GJB1	Likely pathogenic	X	70443980	70443980	C	G	criteria provided, single submitter	ClinGen:CA413502347
Deletion	NC_000001.10:g.(?_12057334)_(12059172_?)del	MFN2	Likely pathogenic	1	12057334	12059172	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.285G>C (p.Arg95Ser)	MFN2	Pathogenic	1	12052721	12052721	G	C	criteria provided, single submitter	ClinGen:CA338462189
single nucleotide variant	NM_014874.4(MFN2):c.326A>G (p.Lys109Arg)	MFN2	Pathogenic	1	12056227	12056227	A	G	criteria provided, single submitter	ClinGen:CA338433959
single nucleotide variant	NM_014874.4(MFN2):c.2222T>G (p.Leu741Trp)	MFN2	Pathogenic	1	12071570	12071570	T	G	criteria provided, single submitter	ClinGen:CA338453887