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_014845.6(FIG4):c.2467C>T (p.Gln823Ter)	FIG4	Pathogenic/Likely pathogenic	6	110117975	110117975	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA3956425
single nucleotide variant	NM_001540.5(HSPB1):c.539C>T (p.Thr180Ile)	HSPB1	Pathogenic	7	75933411	75933411	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA367766323
single nucleotide variant	NM_030962.4(SBF2):c.548T>A (p.Leu183Ter)	SBF2	Pathogenic	11	10050070	10050070	A	T	criteria provided, single submitter	ClinGen:CA379646027
single nucleotide variant	NM_030962.4(SBF2):c.1053+2T>C	SBF2	Pathogenic	11	10015466	10015466	A	G	criteria provided, single submitter	ClinGen:CA379638139
Deletion	NM_001370298.3(FGD4):c.1363_1364del (p.Glu455fs)	FGD4	Pathogenic/Likely pathogenic	12	32755209	32755210	CAG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA6506760
single nucleotide variant	NM_022489.4(INF2):c.326T>G (p.Met109Arg)	INF2	Likely pathogenic	14	105168028	105168028	T	G	criteria provided, single submitter	ClinGen:CA391225884
Duplication	NM_025137.4(SPG11):c.3868dup (p.Tyr1290fs)	SPG11	Pathogenic	15	44890852	44890853	T	TA	criteria provided, single submitter	ClinGen:CA658658287
Deletion	NM_025137.4(SPG11):c.3320_3321del (p.Cys1107fs)	SPG11	Pathogenic	15	44900774	44900775	AAC	A	criteria provided, single submitter	ClinGen:CA618006210
Deletion	NM_025137.4(SPG11):c.3000del (p.Leu1001fs)	SPG11	Likely pathogenic	15	44907599	44907599	GA	G	criteria provided, single submitter	ClinGen:CA658658288
single nucleotide variant	NM_000304.4(PMP22):c.431C>G (p.Pro144Arg)	PMP22	Likely pathogenic	17	15134286	15134286	G	C	criteria provided, single submitter	ClinGen:CA398739549