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
Deletion	NM_001370298.3(FGD4):c.2452del (p.Gln818fs)	FGD4	Pathogenic	12	32791722	32791722	GC	G	criteria provided, single submitter	ClinGen:CA16614115
Insertion	NM_025137.4(SPG11):c.3213_3214insCCCT (p.Val1072fs)	SPG11	Pathogenic	15	44903115	44903116	C	CAGGG	criteria provided, multiple submitters, no conflicts	ClinGen:CA7535025
single nucleotide variant	NM_025137.4(SPG11):c.5867-1G>T	SPG11	Pathogenic	15	44867240	44867240	C	A	criteria provided, single submitter	ClinGen:CA16614459
single nucleotide variant	NM_025137.4(SPG11):c.2990T>A (p.Leu997Ter)	SPG11	Pathogenic	15	44907609	44907609	A	T	criteria provided, single submitter	ClinGen:CA16614460
Duplication	NC_000015.9:g.(?_44881450)_(44925835_?)dup	SPG11	Pathogenic	15	44881450	44925835	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_025137.4(SPG11):c.6586-1G>T	SPG11	Likely pathogenic	15	44859791	44859791	C	A	criteria provided, single submitter	ClinGen:CA16614602
single nucleotide variant	NM_025137.4(SPG11):c.5158C>T (p.Gln1720Ter)	SPG11	Pathogenic	15	44876720	44876720	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA16614614
Deletion	NC_000015.10:g.(?_44570525)_(44570658_?)del	SPG11	Pathogenic	15	44862723	44862856	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_44570525)_(44575041_?)del	SPG11	Pathogenic	15	44862723	44867239	na	na	criteria provided, single submitter	-
Duplication	NM_025137.4(SPG11):c.4811dup (p.Leu1605fs)	SPG11	Pathogenic	15	44881544	44881545	G	GA	criteria provided, single submitter	ClinGen:CA7534570