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_002437.5(MPV17):c.122G>A (p.Arg41Gln)	MPV17	Pathogenic/Likely pathogenic	2	27535925	27535925	C	T	criteria provided, multiple submitters, no conflicts	OMIM:137960.0009
Deletion	NM_000530.8(MPZ):c.486del (p.Ile162fs)	MPZ	Pathogenic/Likely pathogenic	1	161276217	161276217	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter)	SPG11	Pathogenic/Likely pathogenic	15	44862791	44862791	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002677.5(PMP2):c.155T>C (p.Ile52Thr)	PMP2	Pathogenic/Likely pathogenic	8	82357143	82357143	A	G	criteria provided, multiple submitters, no conflicts	OMIM:170715.0002
Duplication	NM_181882.3(PRX):c.2853dup (p.Gly952fs)	PRX	Pathogenic/Likely pathogenic	19	40901405	40901406	C	CA	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs)	PNKP	Pathogenic/Likely pathogenic	19	50365068	50365069	G	GCGAC	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000166.6(GJB1):c.540C>G (p.Phe180Leu)	GJB1	Pathogenic/Likely pathogenic	X	70444097	70444097	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)	IGHMBP2	Pathogenic/Likely pathogenic	11	68696746	68696746	T	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)	IGHMBP2	Pathogenic/Likely pathogenic	11	68700843	68700844	C	CT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001370298.3(FGD4):c.1402del (p.Gln468fs)	FGD4	Pathogenic/Likely pathogenic	12	32755249	32755249	TC	T	criteria provided, multiple submitters, no conflicts	-