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.6724C>T (p.Gln2242Ter)	SPG11	Pathogenic	15	44859652	44859652	G	A	criteria provided, single submitter	-
Deletion	NM_025137.4(SPG11):c.4075del (p.Ile1359fs)	SPG11	Pathogenic/Likely pathogenic	15	44889068	44889068	AT	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)	SPG11	Pathogenic/Likely pathogenic	15	44890912	44890912	A	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_025137.4(SPG11):c.3192del (p.Ile1065fs)	SPG11	Pathogenic	15	44903137	44903137	TC	T	criteria provided, single submitter	-
single nucleotide variant	NM_025137.4(SPG11):c.3121C>T (p.Arg1041Ter)	SPG11	Pathogenic	15	44905652	44905652	G	A	criteria provided, single submitter	-
Deletion	NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs)	SPG11	Pathogenic	15	44921503	44921504	GAA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_025137.4(SPG11):c.1478_1482del (p.Leu493fs)	SPG11	Pathogenic/Likely pathogenic	15	44941184	44941188	CAAACA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_025137.4(SPG11):c.925G>T (p.Gly309Ter)	SPG11	Pathogenic	15	44944409	44944409	C	A	criteria provided, single submitter	-
Deletion	NM_025137.4(SPG11):c.460_461del (p.Leu154fs)	SPG11	Pathogenic	15	44951483	44951484	CAA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001605.3(AARS1):c.304G>C (p.Gly102Arg)	AARS1	Likely pathogenic	16	70310898	70310898	C	G	criteria provided, multiple submitters, no conflicts	-