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_007254.4(PNKP):c.937-2A>G	PNKP	Likely pathogenic	19	50365722	50365722	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_007126.5(VCP):c.277C>T (p.Arg93Cys)	VCP	Pathogenic	9	35067913	35067913	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_002180.3(IGHMBP2):c.242del (p.Asn81fs)	IGHMBP2	Pathogenic	11	68673691	68673691	TA	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_030962.4(SBF2):c.619+1G>A	SBF2	Likely pathogenic	11	10049998	10049998	C	T	criteria provided, single submitter	-
Duplication	NM_181882.3(PRX):c.2853dup (p.Gly952fs)	PRX	Pathogenic/Likely pathogenic	19	40901405	40901406	C	CA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_025137.4(SPG11):c.5757_5758del (p.Glu1921fs)	SPG11	Pathogenic	15	44876120	44876121	CCT	C	criteria provided, single submitter	-
single nucleotide variant	NM_002437.5(MPV17):c.461+2T>C	MPV17	Pathogenic	2	27534765	27534765	A	G	criteria provided, multiple submitters, no conflicts	-
Duplication	Single allele	PMP22	Pathogenic	17	14087933	15500645	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_022489.4(INF2):c.217G>A (p.Gly73Ser)	INF2	Pathogenic	14	105167919	105167919	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_022489.4(INF2):c.550G>A (p.Glu184Lys)	INF2	Pathogenic	14	105169674	105169674	G	A	criteria provided, multiple submitters, no conflicts	-