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_030962.4(SBF2):c.3526C>T (p.Arg1176Ter)	SBF2	Pathogenic	11	9853897	9853897	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_030962.4(SBF2):c.1951C>T (p.Gln651Ter)	SBF2	Pathogenic	11	9879922	9879922	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001005361.3(DNM2):c.1463C>G (p.Thr488Arg)	DNM2	Likely pathogenic	19	10913004	10913004	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000166.6(GJB1):c.59T>C (p.Ile20Thr)	GJB1	Likely pathogenic	X	70443616	70443616	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.529G>A (p.Val177Met)	GJB1	Likely pathogenic	X	70444086	70444086	G	A	criteria provided, single submitter	-
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_001376.5(DYNC1H1):c.10160T>C (p.Leu3387Pro)	DYNC1H1	Likely pathogenic	14	102499482	102499482	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_181882.3(PRX):c.1390C>T (p.Arg464Ter)	PRX	Pathogenic	19	40902869	40902869	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)	SPG11	Pathogenic	15	44859778	44859778	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_025137.4(SPG11):c.6418C>T (p.Gln2140Ter)	SPG11	Pathogenic	15	44862782	44862782	G	A	criteria provided, single submitter	-