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_002180.3(IGHMBP2):c.92G>A (p.Trp31Ter)	IGHMBP2	Pathogenic	11	68673542	68673542	G	A	criteria provided, single submitter	ClinVar:424782,ClinGen:CA351262
single nucleotide variant	NM_001376.5(DYNC1H1):c.4700G>T (p.Arg1567Leu)	DYNC1H1	Likely pathogenic	14	102469031	102469031	G	T	criteria provided, single submitter	ClinGen:CA210007
single nucleotide variant	NM_014874.4(MFN2):c.436C>T (p.Leu146Phe)	MFN2	Pathogenic/Likely pathogenic	1	12056337	12056337	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA279064
single nucleotide variant	NM_014874.4(MFN2):c.494A>G (p.His165Arg)	MFN2	Pathogenic	1	12057373	12057373	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279075
single nucleotide variant	NM_014874.4(MFN2):c.1126A>G (p.Met376Val)	MFN2	Pathogenic/Likely pathogenic	1	12062126	12062126	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA279087
single nucleotide variant	NM_014874.4(MFN2):c.2256C>A (p.Tyr752Ter)	MFN2	Pathogenic	1	12071604	12071604	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA279072
Deletion	NM_000530.8(MPZ):c.646-10_650del	MPZ	Pathogenic	1	161275763	161275777	TGGCGTCTGGGGGAGG	T	criteria provided, single submitter	ClinGen:CA279078
single nucleotide variant	NM_000530.8(MPZ):c.410G>A (p.Gly137Asp)	MPZ	Pathogenic	1	161276536	161276536	C	T	criteria provided, single submitter	ClinGen:CA279120
single nucleotide variant	NM_000530.8(MPZ):c.116A>C (p.His39Pro)	MPZ	Pathogenic	1	161277166	161277166	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA347518,UniProtKB:P25189#VAR_054393
single nucleotide variant	NM_000530.8(MPZ):c.90C>G (p.Ile30Met)	MPZ	Pathogenic	1	161277192	161277192	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA277615,UniProtKB:P25189#VAR_004500