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_000166.6(GJB1):c.241C>G (p.Leu81Val)	GJB1	Likely pathogenic	X	70443798	70443798	C	G	criteria provided, single submitter	ClinGen:CA10577655
single nucleotide variant	NM_000166.6(GJB1):c.542T>A (p.Val181Glu)	GJB1	Likely pathogenic	X	70444099	70444099	T	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577659
single nucleotide variant	NM_000166.6(GJB1):c.151T>C (p.Phe51Leu)	GJB1	Pathogenic/Likely pathogenic	X	70443708	70443708	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10577662
single nucleotide variant	NM_000166.6(GJB1):c.556G>T (p.Glu186Ter)	GJB1	Pathogenic	X	70444113	70444113	G	T	criteria provided, single submitter	ClinGen:CA10577663
Duplication	NM_007254.4(PNKP):c.265dup (p.Val89fs)	PNKP	Likely pathogenic	19	50368616	50368617	A	AC	criteria provided, single submitter	ClinGen:CA10581252
single nucleotide variant	NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)	SPG11	Pathogenic/Likely pathogenic	15	44858152	44858152	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10581479
single nucleotide variant	NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)	SPG11	Pathogenic	15	44925817	44925817	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7535486
single nucleotide variant	NM_014874.4(MFN2):c.2256C>G (p.Tyr752Ter)	MFN2	Pathogenic	1	12071604	12071604	C	G	criteria provided, single submitter	ClinGen:CA10581724
single nucleotide variant	NM_170707.4(LMNA):c.254T>A (p.Leu85His)	LMNA	Likely pathogenic	1	156084963	156084963	T	A	criteria provided, single submitter	ClinGen:CA10581727
single nucleotide variant	NM_170707.4(LMNA):c.928C>T (p.Gln310Ter)	LMNA	Pathogenic	1	156105095	156105095	C	T	criteria provided, single submitter	ClinGen:CA10581728