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_014874.4(MFN2):c.2119C>T (p.Arg707Trp)	MFN2	Pathogenic/Likely pathogenic	1	12069698	12069698	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA252166,OMIM:608507.0013
single nucleotide variant	NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)	MFN2	Pathogenic	1	12052746	12052746	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA115475,OMIM:608507.0014
single nucleotide variant	NM_003680.4(YARS1):c.121G>A (p.Gly41Arg)	YARS1	Pathogenic	1	33276595	33276595	C	T	criteria provided, single submitter	ClinGen:CA118052,UniProtKB:P54577#VAR_026681,OMIM:603623.0001
single nucleotide variant	NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)	YARS1	Pathogenic	1	33263369	33263369	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA118054,UniProtKB:P54577#VAR_026684,OMIM:603623.0002
single nucleotide variant	NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)	MPZ	Pathogenic	1	161276660	161276660	T	C	criteria provided, single submitter	ClinGen:CA257142,UniProtKB:P25189#VAR_004517,OMIM:159440.0001
single nucleotide variant	NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)	MPZ	Pathogenic	1	161276676	161276676	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257144,UniProtKB:P25189#VAR_004515,OMIM:159440.0002
single nucleotide variant	NM_000530.8(MPZ):c.188C>G (p.Ser63Cys)	MPZ	Pathogenic	1	161277094	161277094	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA123796,UniProtKB:P25189#VAR_004508,OMIM:159440.0004
single nucleotide variant	NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	MPZ	Pathogenic	1	161276204	161276204	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA123798,UniProtKB:P25189#VAR_004544,OMIM:159440.0005
single nucleotide variant	NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)	MPZ	Pathogenic/Likely pathogenic	1	161276542	161276542	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257146,UniProtKB:P25189#VAR_004539,OMIM:159440.0007
single nucleotide variant	NM_000530.8(MPZ):c.409G>A (p.Gly137Ser)	MPZ	Likely pathogenic	1	161276537	161276537	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257148,UniProtKB:P25189#VAR_004540,OMIM:159440.0008