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_014874.4(MFN2):c.2120G>C (p.Arg707Pro)	MFN2	Likely pathogenic	1	12069699	12069699	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.2213C>T (p.Ala738Val)	MFN2	Pathogenic	1	12071561	12071561	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.681A>T (p.Arg227Ser)	MPZ	Pathogenic/Likely pathogenic	1	161275732	161275732	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter)	MPZ	Pathogenic	1	161276241	161276241	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.435T>A (p.Tyr145Ter)	MPZ	Pathogenic/Likely pathogenic	1	161276511	161276511	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.410G>T (p.Gly137Val)	MPZ	Likely pathogenic	1	161276536	161276536	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.397C>T (p.Pro133Ser)	MPZ	Likely pathogenic	1	161276549	161276549	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.392A>G (p.Asn131Ser)	MPZ	Pathogenic	1	161276554	161276554	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.380G>A (p.Cys127Tyr)	MPZ	Pathogenic/Likely pathogenic	1	161276566	161276566	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)	MPZ	Likely pathogenic	1	161276643	161276643	C	G	criteria provided, single submitter	-