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_000530.8(MPZ):c.411C>T (p.Gly137=)	MPZ	Pathogenic	1	161276535	161276535	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.397C>G (p.Pro133Ala)	MPZ	Likely pathogenic	1	161276549	161276549	G	C	criteria provided, single submitter	-
Deletion	NM_000530.8(MPZ):c.77del (p.Pro26fs)	MPZ	Pathogenic	1	161277205	161277205	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_020631.6(PLEKHG5):c.2542C>T (p.Arg848Ter)	PLEKHG5	Pathogenic/Likely pathogenic	1	6528354	6528354	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014874.4(MFN2):c.718T>G (p.Phe240Val)	MFN2	Pathogenic	1	12059054	12059054	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.1091G>C (p.Arg364Pro)	MFN2	Pathogenic	1	12062091	12062091	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014874.4(MFN2):c.2171T>C (p.Leu724Pro)	MFN2	Pathogenic	1	12069750	12069750	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.184C>T (p.Arg62Cys)	LMNA	Likely pathogenic	1	156084893	156084893	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.398C>G (p.Pro133Arg)	MPZ	Likely pathogenic	1	161276548	161276548	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_024577.4(SH3TC2):c.3596G>A (p.Trp1199Ter)	SH3TC2	Pathogenic	5	148386523	148386523	C	T	criteria provided, single submitter	-