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.7115T>A (p.Leu2372Ter)	SPG11	Pathogenic	15	44856781	44856781	A	T	criteria provided, single submitter	ClinGen:CA336254
Deletion	NM_025137.4(SPG11):c.2331del (p.Glu778fs)	SPG11	Pathogenic	15	44914531	44914531	CT	C	criteria provided, single submitter	ClinGen:CA336745
single nucleotide variant	NM_000166.6(GJB1):c.9G>A (p.Trp3Ter)	GJB1	Pathogenic	X	70443566	70443566	G	A	criteria provided, single submitter	ClinGen:CA338521
single nucleotide variant	NM_000166.6(GJB1):c.163A>G (p.Thr55Ala)	GJB1	Likely pathogenic	X	70443720	70443720	A	G	criteria provided, single submitter	ClinGen:CA339416,UniProtKB:P08034#VAR_029908
single nucleotide variant	NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)	GJB1	Pathogenic/Likely pathogenic	X	70443862	70443862	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA339218,UniProtKB:P08034#VAR_002074
single nucleotide variant	NM_000166.6(GJB1):c.547C>T (p.Arg183Cys)	GJB1	Pathogenic/Likely pathogenic	X	70444104	70444104	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA336920,UniProtKB:P08034#VAR_002109
single nucleotide variant	NM_170707.4(LMNA):c.810+1G>C	LMNA	Pathogenic	1	156104767	156104767	G	C	criteria provided, single submitter	ClinGen:CA277528
single nucleotide variant	NM_002047.4(GARS1):c.998A>T (p.Glu333Val)	GARS1	Likely pathogenic	7	30651828	30651828	A	T	criteria provided, single submitter	ClinGen:CA278926
single nucleotide variant	NM_003172.4(SURF1):c.106+1G>C	SURF1	Likely pathogenic	9	136223123	136223123	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA278935
single nucleotide variant	NM_007126.5(VCP):c.463C>G (p.Arg155Gly)	VCP	Pathogenic/Likely pathogenic	9	35065361	35065361	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA277489