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_170707.4(LMNA):c.3G>A (p.Met1Ile)	LMNA	Pathogenic	1	156084712	156084712	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA342805841
single nucleotide variant	NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)	PLEKHG5	Pathogenic/Likely pathogenic	1	6529298	6529298	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA561265
single nucleotide variant	NM_024577.4(SH3TC2):c.2128C>T (p.Gln710Ter)	SH3TC2	Pathogenic	5	148407167	148407167	G	A	criteria provided, single submitter	ClinGen:CA3499055
single nucleotide variant	NM_014845.6(FIG4):c.793C>T (p.Arg265Ter)	FIG4	Pathogenic	6	110062664	110062664	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3955913
single nucleotide variant	NM_002180.3(IGHMBP2):c.1813C>T (p.Arg605Ter)	IGHMBP2	Pathogenic	11	68703761	68703761	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA223412991
single nucleotide variant	NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)	IGHMBP2	Pathogenic	11	68704316	68704316	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153896
single nucleotide variant	NM_025137.4(SPG11):c.4042C>T (p.Gln1348Ter)	SPG11	Likely pathogenic	15	44889101	44889101	G	A	criteria provided, single submitter	ClinGen:CA392229205
single nucleotide variant	NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)	SPG11	Pathogenic	15	44944060	44944060	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA7535624
single nucleotide variant	NM_000304.4(PMP22):c.390C>G (p.Tyr130Ter)	PMP22	Likely pathogenic	17	15134327	15134327	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398739656
single nucleotide variant	NM_000263.4(NAGLU):c.1A>G (p.Met1Val)	NAGLU	Pathogenic	17	40688291	40688291	A	G	criteria provided, single submitter	ClinGen:CA399594810