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_000166.6(GJB1):c.307A>G (p.Lys103Glu)	GJB1	Likely pathogenic	X	70443864	70443864	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA413501861
single nucleotide variant	NM_000166.6(GJB1):c.605T>A (p.Ile202Asn)	GJB1	Pathogenic	X	70444162	70444162	T	A	criteria provided, single submitter	ClinGen:CA413503276
single nucleotide variant	NM_000530.8(MPZ):c.585-2A>T	MPZ	Pathogenic	1	161275960	161275960	T	A	criteria provided, single submitter	ClinGen:CA343345060
single nucleotide variant	NM_007289.4(MME):c.440-2A>C	MME	Pathogenic/Likely pathogenic	3	154834451	154834451	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA2675168
single nucleotide variant	NM_007289.4(MME):c.1497+1G>C	MME	Likely pathogenic	3	154865014	154865014	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA355130964
single nucleotide variant	NM_007289.4(MME):c.1564C>T (p.Gln522Ter)	MME	Pathogenic	3	154866405	154866405	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA355131131
Deletion	NM_003172.4(SURF1):c.534_535del (p.Asn178fs)	SURF1	Pathogenic/Likely pathogenic	9	136219602	136219603	CTA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372876
single nucleotide variant	NM_007126.5(VCP):c.383G>C (p.Gly128Ala)	VCP	Likely pathogenic	9	35066734	35066734	C	G	criteria provided, single submitter	ClinGen:CA373291969
single nucleotide variant	NM_001376.5(DYNC1H1):c.9684G>C (p.Glu3228Asp)	DYNC1H1	Likely pathogenic	14	102496197	102496197	G	C	criteria provided, single submitter	ClinGen:CA391016788
single nucleotide variant	NM_025137.4(SPG11):c.796C>T (p.Gln266Ter)	SPG11	Pathogenic	15	44949366	44949366	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA392237268