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_014845.6(FIG4):c.2386C>T (p.Gln796Ter)	FIG4	Pathogenic/Likely pathogenic	6	110113794	110113794	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_018972.4(GDAP1):c.694+1G>A	GDAP1	Pathogenic/Likely pathogenic	8	75275289	75275289	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)	GDAP1	Pathogenic/Likely pathogenic	8	75262808	75262808	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)	IGHMBP2	Pathogenic/Likely pathogenic	11	68702827	68702827	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000399.5(EGR2):c.1066G>A (p.Glu356Lys)	EGR2	Pathogenic/Likely pathogenic	10	64573332	64573332	C	T	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.497C>T (p.Ala166Val)	MFN2	Pathogenic/Likely pathogenic	1	12057376	12057376	C	T	criteria provided, multiple submitters, no conflicts	-
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_170707.4(LMNA):c.1116G>C (p.Glu372Asp)	LMNA	Pathogenic/Likely pathogenic	1	156105871	156105871	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000263.4(NAGLU):c.2020C>T (p.Arg674Cys)	NAGLU	Pathogenic/Likely pathogenic	17	40696044	40696044	C	T	criteria provided, multiple submitters, no conflicts	-