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
Duplication	NM_002437.5(MPV17):c.280-1dup	MPV17	Pathogenic	2	27535451	27535452	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA1575594
Duplication	NM_014845.6(FIG4):c.1666dup (p.Thr556fs)	FIG4	Pathogenic/Likely pathogenic	6	110088010	110088011	G	GA	criteria provided, multiple submitters, no conflicts	ClinGen:CA3956154
single nucleotide variant	NM_006158.5(NEFL):c.487G>T (p.Glu163Ter)	NEFL	Pathogenic	8	24813543	24813543	C	A	criteria provided, single submitter	ClinGen:CA10654937
single nucleotide variant	NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)	NAGLU	Pathogenic/Likely pathogenic	17	40689451	40689451	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA8576764
single nucleotide variant	NM_000263.4(NAGLU):c.1006G>T (p.Glu336Ter)	NAGLU	Likely pathogenic	17	40693209	40693209	G	T	criteria provided, single submitter	ClinGen:CA8576915
single nucleotide variant	NM_014874.4(MFN2):c.1252C>T (p.Arg418Ter)	MFN2	Pathogenic/Likely pathogenic	1	12064140	12064140	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042289
single nucleotide variant	NM_000530.8(MPZ):c.68-1G>C	MPZ	Pathogenic	1	161277215	161277215	C	G	criteria provided, single submitter	ClinGen:CA16042314
single nucleotide variant	NM_014845.6(FIG4):c.2212C>T (p.Gln738Ter)	FIG4	Pathogenic	6	110112610	110112610	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3956324
single nucleotide variant	NM_006415.4(SPTLC1):c.992C>A (p.Ser331Tyr)	SPTLC1	Pathogenic	9	94809543	94809543	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042656,OMIM:605712.0007
single nucleotide variant	NM_002180.3(IGHMBP2):c.547+1G>A	IGHMBP2	Pathogenic/Likely pathogenic	11	68676100	68676100	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16042766