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_025137.4(SPG11):c.5769del (p.Ser1923fs)	SPG11	Pathogenic	15	44876109	44876109	TA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344358
single nucleotide variant	NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)	SPG11	Pathogenic	15	44867132	44867132	G	A	criteria provided, single submitter	ClinGen:CA277266,OMIM:610844.0011
Duplication	NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)	SPG11	Pathogenic	15	44867119	44867120	C	CA	criteria provided, multiple submitters, no conflicts	ClinGen:CA344368
single nucleotide variant	NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)	SPG11	Pathogenic	15	44865859	44865859	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344370
single nucleotide variant	NM_025137.4(SPG11):c.6206-1G>C	SPG11	Pathogenic	15	44865019	44865019	C	G	criteria provided, single submitter	ClinGen:CA344374
Deletion	NM_025137.4(SPG11):c.642del (p.Phe214fs)	SPG11	Pathogenic	15	44951302	44951302	CA	C	criteria provided, single submitter	ClinGen:CA344375
Deletion	NM_025137.4(SPG11):c.6451del (p.Ala2151fs)	SPG11	Pathogenic	15	44862749	44862749	GC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA344376
Deletion	NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)	SPG11	Pathogenic	15	44859634	44859637	GACTC	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA344380
single nucleotide variant	NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)	SPG11	Pathogenic	15	44858195	44858195	G	A	criteria provided, multiple submitters, no conflicts	ClinVar:427826,ClinGen:CA344384
Insertion	NM_025137.4(SPG11):c.7000-3_7000-2insAGG	SPG11	Pathogenic/Likely pathogenic	15	44856898	44856899	T	TTCC	criteria provided, multiple submitters, no conflicts	ClinGen:CA344387