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_024577.4(SH3TC2):c.1351G>T (p.Glu451Ter)	SH3TC2	Pathogenic	5	148407944	148407944	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1336C>T (p.Gln446Ter)	IGHMBP2	Pathogenic	11	68700867	68700867	C	T	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_007254.4(PNKP):c.229C>T (p.Gln77Ter)	PNKP	Likely pathogenic	19	50368653	50368653	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)	GJB1	Pathogenic	X	70444190	70444190	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_016156.6(MTMR2):c.1768C>T (p.Gln590Ter)	MTMR2	Pathogenic	11	95569314	95569314	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000263.4(NAGLU):c.1313T>G (p.Met438Arg)	NAGLU	Likely pathogenic	17	40695337	40695337	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.691T>A (p.Ser231Thr)	MFN2	Likely pathogenic	1	12058918	12058918	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_007289.4(MME):c.160+2T>C	MME	Likely pathogenic	3	154802118	154802118	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_007289.4(MME):c.1579C>T (p.Arg527Ter)	MME	Pathogenic	3	154866420	154866420	C	T	criteria provided, single submitter	-