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.1193C>A (p.Ala398Glu)	IGHMBP2	Likely pathogenic	11	68696783	68696783	C	A	criteria provided, single submitter	ClinGen:CA10584086
Deletion	NM_002180.3(IGHMBP2):c.1346del (p.Met449fs)	IGHMBP2	Pathogenic	11	68700877	68700877	AT	A	criteria provided, single submitter	ClinGen:CA10584087
single nucleotide variant	NM_000166.6(GJB1):c.-16-2A>G	GJB1	Likely pathogenic	X	70443540	70443540	A	G	criteria provided, single submitter	ClinGen:CA10584089
single nucleotide variant	NM_000530.8(MPZ):c.403A>C (p.Ile135Leu)	MPZ	Pathogenic	1	161276543	161276543	T	G	criteria provided, single submitter	ClinGen:CA10584090,UniProtKB:P25189#VAR_004538
single nucleotide variant	NM_014874.4(MFN2):c.659C>T (p.Ala220Val)	MFN2	Likely pathogenic	1	12058886	12058886	C	T	criteria provided, single submitter	ClinGen:CA10584098
single nucleotide variant	NM_014874.4(MFN2):c.838C>T (p.Arg280Cys)	MFN2	Likely pathogenic	1	12061479	12061479	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584101
single nucleotide variant	NM_014874.4(MFN2):c.1091G>A (p.Arg364Gln)	MFN2	Pathogenic/Likely pathogenic	1	12062091	12062091	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584103
single nucleotide variant	NM_014874.4(MFN2):c.1198C>T (p.Arg400Ter)	MFN2	Pathogenic	1	12064086	12064086	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584104
single nucleotide variant	NM_170707.4(LMNA):c.3G>C (p.Met1Ile)	LMNA	Pathogenic	1	156084712	156084712	G	C	criteria provided, single submitter	ClinGen:CA10584109
Deletion	NM_170707.4(LMNA):c.162_163del (p.Asn56fs)	LMNA	Pathogenic	1	156084871	156084872	CGG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584112