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	NC_000017.11:g.(?_15239451)_(15239631_?)del	PMP22	Pathogenic	17	15142768	15142948	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_000304.4(PMP22):c.83G>A (p.Trp28Ter)	PMP22	Pathogenic	17	15162506	15162506	C	T	criteria provided, single submitter	ClinGen:CA398271192
Deletion	NC_000019.10:g.(?_40403686)_(40403882_?)del	PRX	Pathogenic	19	40909593	40909789	na	na	criteria provided, single submitter	-
Insertion	NM_181882.3(PRX):c.3014_3015insT (p.Lys1006fs)	PRX	Pathogenic	19	40901244	40901245	G	GA	criteria provided, single submitter	ClinGen:CA658799228
single nucleotide variant	NM_000166.6(GJB1):c.8G>A (p.Trp3Ter)	GJB1	Pathogenic	X	70443565	70443565	G	A	criteria provided, single submitter	ClinGen:CA413499283
single nucleotide variant	NM_000166.6(GJB1):c.179G>A (p.Cys60Tyr)	GJB1	Likely pathogenic	X	70443736	70443736	G	A	criteria provided, single submitter	ClinGen:CA413501299
single nucleotide variant	NM_001097642.3(GJB1):c.-16-513T>C	GJB1	Likely pathogenic	X	70443029	70443029	T	C	criteria provided, single submitter	ClinGen:CA330997536
single nucleotide variant	NM_000166.6(GJB1):c.491G>A (p.Arg164Gln)	GJB1	Pathogenic/Likely pathogenic	X	70444048	70444048	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA413502758
single nucleotide variant	NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter)	SPG11	Likely pathogenic	15	44865799	44865799	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000701.8(ATP1A1):c.143T>G (p.Leu48Arg)	ATP1A1	Pathogenic	1	116927424	116927424	T	G	criteria provided, multiple submitters, no conflicts	OMIM:182310.0001