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
Duplication	NM_002437.5(MPV17):c.414dup (p.Pro139fs)	MPV17	Pathogenic	2	27534813	27534814	G	GC	criteria provided, single submitter	-
single nucleotide variant	NM_022489.4(INF2):c.640C>T (p.Arg214Cys)	INF2	Pathogenic	14	105169764	105169764	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.398C>T (p.Pro133Leu)	MPZ	Likely pathogenic	1	161276548	161276548	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.810G>C (p.Lys270Asn)	LMNA	Likely pathogenic	1	156104766	156104766	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)	LMNA	Likely pathogenic	1	156104298	156104298	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_170707.4(LMNA):c.1262_1263del (p.Leu421fs)	LMNA	Likely pathogenic	1	156106109	156106110	CTG	C	criteria provided, single submitter	-
Deletion	NM_170707.4(LMNA):c.1579del (p.Arg527fs)	LMNA	Likely pathogenic	1	156106994	156106994	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.275T>C (p.Leu92Pro)	MFN2	Pathogenic	1	12052711	12052711	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.280C>G (p.Arg94Gly)	MFN2	Pathogenic	1	12052716	12052716	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014874.4(MFN2):c.311G>A (p.Arg104Gln)	MFN2	Likely pathogenic	1	12052747	12052747	G	A	criteria provided, multiple submitters, no conflicts	-