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_025137.4(SPG11):c.5093T>A (p.Leu1698Ter)	SPG11	Pathogenic	15	44877862	44877862	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_025137.4(SPG11):c.237C>A (p.Cys79Ter)	SPG11	Likely pathogenic	15	44955609	44955609	G	T	criteria provided, single submitter	-
Duplication	NM_025137.4(SPG11):c.202_203dup (p.Leu68fs)	SPG11	Pathogenic	15	44955642	44955643	C	CAA	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000304.4(PMP22):c.433del (p.Leu145fs)	PMP22	Pathogenic	17	15134284	15134284	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000304.4(PMP22):c.68del (p.Thr23fs)	PMP22	Pathogenic	17	15163977	15163977	CG	C	criteria provided, single submitter	-
Deletion	NM_000166.6(GJB1):c.319del (p.Arg107fs)	GJB1	Pathogenic	X	70443876	70443876	AC	A	criteria provided, single submitter	-
Deletion	NM_000166.6(GJB1):c.602del (p.Cys201fs)	GJB1	Likely pathogenic	X	70444159	70444159	TG	T	criteria provided, single submitter	-
Duplication	NM_000166.6(GJB1):c.842dup (p.Ala282fs)	GJB1	Likely pathogenic	X	70444398	70444399	T	TC	criteria provided, single submitter	-
single nucleotide variant	NM_001376.5(DYNC1H1):c.10051A>T (p.Ile3351Phe)	DYNC1H1	Likely pathogenic	14	102498776	102498776	A	T	criteria provided, single submitter	-
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	-