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.2834+1G>T	SPG11	Pathogenic/Likely pathogenic	15	44912387	44912387	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344329
Duplication	NM_025137.4(SPG11):c.2849dup (p.Leu950fs)	SPG11	Pathogenic	15	44907749	44907750	C	CA	criteria provided, single submitter	ClinGen:CA344331
single nucleotide variant	NM_025137.4(SPG11):c.3291+1G>T	SPG11	Pathogenic	15	44903037	44903037	C	A	criteria provided, single submitter	ClinGen:CA344332
single nucleotide variant	NM_025137.4(SPG11):c.349G>T (p.Glu117Ter)	SPG11	Pathogenic	15	44952723	44952723	C	A	criteria provided, single submitter	ClinGen:CA344333
Insertion	NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs)	SPG11	Pathogenic	15	44892686	44892687	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA344337
Deletion	NM_025137.4(SPG11):c.408_428del (p.Glu136_Ile142del)	SPG11	Pathogenic	15	44952644	44952664	GTCAATGAGCTTTTGCAATGCC	G	criteria provided, single submitter	ClinGen:CA344343
Deletion	NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)	SPG11	Pathogenic	15	44888407	44888408	CTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA344345
Deletion	NM_025137.4(SPG11):c.5255del (p.Phe1752fs)	SPG11	Pathogenic	15	44876623	44876623	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA344351
single nucleotide variant	NM_025137.4(SPG11):c.5470C>T (p.Arg1824Ter)	SPG11	Pathogenic	15	44876408	44876408	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344354
Deletion	NM_025137.4(SPG11):c.5703del (p.His1902fs)	SPG11	Pathogenic	15	44876175	44876175	GA	G	criteria provided, single submitter	ClinGen:CA344357