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_000530.8(MPZ):c.368G>A (p.Gly123Asp)	MPZ	Likely pathogenic	1	161276578	161276578	C	T	criteria provided, single submitter	ClinGen:CA343349009
single nucleotide variant	NM_000530.8(MPZ):c.332C>G (p.Ser111Cys)	MPZ	Likely pathogenic	1	161276614	161276614	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA343349293
single nucleotide variant	NM_020631.6(PLEKHG5):c.1080+1G>A	PLEKHG5	Likely pathogenic	1	6532586	6532586	C	T	criteria provided, single submitter	ClinGen:CA338132434
single nucleotide variant	NM_007289.4(MME):c.877C>T (p.Arg293Ter)	MME	Pathogenic/Likely pathogenic	3	154858001	154858001	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA2675316
single nucleotide variant	NM_007289.4(MME):c.1781-2A>G	MME	Pathogenic/Likely pathogenic	3	154886279	154886279	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA2675637
Deletion	NM_024577.4(SH3TC2):c.3300del (p.His1100fs)	SH3TC2	Likely pathogenic	5	148389860	148389860	TG	T	criteria provided, single submitter	ClinGen:CA3498786
single nucleotide variant	NM_024577.4(SH3TC2):c.1282G>T (p.Glu428Ter)	SH3TC2	Likely pathogenic	5	148408013	148408013	C	A	criteria provided, single submitter	ClinGen:CA361669311
single nucleotide variant	NM_024577.4(SH3TC2):c.496G>T (p.Glu166Ter)	SH3TC2	Pathogenic/Likely pathogenic	5	148422290	148422290	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA361675539
Duplication	NM_024577.4(SH3TC2):c.312dup (p.Gln105fs)	SH3TC2	Likely pathogenic	5	148424168	148424169	G	GA	criteria provided, single submitter	ClinGen:CA658657552
single nucleotide variant	NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)	GDAP1	Pathogenic	8	75276454	75276454	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA371550563