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_002180.3(IGHMBP2):c.449+1G>A	IGHMBP2	Pathogenic	11	68675806	68675806	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA381643402
single nucleotide variant	NM_002180.3(IGHMBP2):c.1274G>A (p.Arg425His)	IGHMBP2	Likely pathogenic	11	68700805	68700805	G	A	criteria provided, single submitter	ClinGen:CA6153589
Deletion	NC_000015.10:g.(?_44570505)_(44575061_?)del	SPG11	Pathogenic	15	44862703	44867259	na	na	criteria provided, single submitter	-
Deletion	NC_000015.10:g.(?_44595239)_(44600652_?)del	SPG11	Pathogenic	15	44887437	44892850	na	na	criteria provided, single submitter	-
Deletion	NM_025137.4(SPG11):c.6230_6231del (p.Thr2077fs)	SPG11	Pathogenic	15	44864993	44864994	CTG	C	criteria provided, single submitter	ClinGen:CA658798319
Deletion	NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer)	SPG11	Pathogenic/Likely pathogenic	15	44876034	44876034	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA618005968
Deletion	NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs)	SPG11	Pathogenic	15	44905696	44905699	CTCTT	C	criteria provided, single submitter	ClinGen:CA7535068
single nucleotide variant	NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)	SPG11	Pathogenic/Likely pathogenic	15	44907742	44907742	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA7535116
single nucleotide variant	NM_025137.4(SPG11):c.6343+1G>T	SPG11	Likely pathogenic	15	44864880	44864880	C	A	criteria provided, single submitter	ClinGen:CA392216998
single nucleotide variant	NM_000304.4(PMP22):c.78+1G>A	PMP22	Pathogenic	17	15163966	15163966	C	T	criteria provided, single submitter	ClinGen:CA398271648