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_014365.3(HSPB8):c.422A>T (p.Lys141Met)	HSPB8	Pathogenic	12	119624884	119624884	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1708C>T (p.Arg570Ter)	IGHMBP2	Pathogenic	11	68702842	68702842	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)	SPG11	Pathogenic	15	44881468	44881468	C	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002972.4(SBF1):c.1180G>T (p.Glu394Ter)	SBF1	Likely pathogenic	22	50903667	50903667	C	A	criteria provided, single submitter	-
Deletion	NC_000001.11:g.(?_156137634)_(156139126_?)del	LMNA	Likely pathogenic	1	156107425	156108917	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.2129T>C (p.Leu710Pro)	MFN2	Pathogenic/Likely pathogenic	1	12069708	12069708	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014874.4(MFN2):c.475-2A>G	MFN2	Pathogenic	1	12057352	12057352	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.638T>C (p.Ile213Thr)	MFN2	Pathogenic	1	12058865	12058865	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.1119C>G (p.Ile373Met)	LMNA	Pathogenic	1	156105874	156105874	C	G	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.1516del (p.His506fs)	LMNA	Pathogenic	1	156106929	156106929	AC	A	criteria provided, single submitter	-