シャルコー・マリー・トゥース病

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000166.6(GJB1):c.224G>A (p.Arg75Gln)	GJB1	Pathogenic	X	70443781	70443781	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279107,UniProtKB:P08034#VAR_002052
single nucleotide variant	NM_000166.6(GJB1):c.319C>T (p.Arg107Trp)	GJB1	Pathogenic	X	70443876	70443876	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279061,UniProtKB:P08034#VAR_002076
single nucleotide variant	NM_000166.6(GJB1):c.490C>T (p.Arg164Trp)	GJB1	Pathogenic	X	70444047	70444047	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277620,UniProtKB:P08034#VAR_002099
single nucleotide variant	NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)	IGHMBP2	Pathogenic/Likely pathogenic	11	68671422	68671422	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10575803
single nucleotide variant	NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)	IGHMBP2	Pathogenic/Likely pathogenic	11	68701322	68701322	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA6153653,UniProtKB:P38935#VAR_058504
single nucleotide variant	NM_002109.6(HARS1):c.395C>T (p.Thr132Ile)	HARS1	Pathogenic/Likely pathogenic	5	140059374	140059374	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB:P12081#VAR_075064,OMIM:142810.0003,ClinGen:CA210252
single nucleotide variant	NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)	VCP	Pathogenic	9	35067919	35067919	T	A	criteria provided, single submitter	ClinGen:CA279635,OMIM:601023.0012
single nucleotide variant	NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)	AIFM1	Likely pathogenic	X	129267384	129267384	C	T	criteria provided, single submitter	ClinGen:CA279885,UniProtKB:O95831#VAR_076217,OMIM:300169.0003
Duplication	NM_025137.4(SPG11):c.6632dup (p.Pro2212fs)	SPG11	Pathogenic	15	44859743	44859744	A	AC	criteria provided, single submitter	ClinGen:CA279891,OMIM:610844.0014
single nucleotide variant	NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)	SPG11	Pathogenic	15	44951352	44951352	G	A	criteria provided, single submitter	ClinGen:CA279893,OMIM:610844.0015