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.242A>G (p.His81Arg)	MPZ	Pathogenic	1	161276704	161276704	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA341323,UniProtKB:P25189#VAR_004513,OMIM:159440.0014
single nucleotide variant	NM_000530.8(MPZ):c.244T>C (p.Tyr82His)	MPZ	Pathogenic/Likely pathogenic	1	161276702	161276702	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA343897
single nucleotide variant	NM_000530.8(MPZ):c.245A>G (p.Tyr82Cys)	MPZ	Pathogenic/Likely pathogenic	1	161276701	161276701	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.256C>T (p.Gln86Ter)	MPZ	Pathogenic	1	161276690	161276690	G	A	criteria provided, single submitter	ClinGen:CA343349897
single nucleotide variant	NM_000530.8(MPZ):c.270C>G (p.Asp90Glu)	MPZ	Likely pathogenic	1	161276676	161276676	G	C	criteria provided, single submitter	ClinGen:CA343349785
Duplication	NM_000530.8(MPZ):c.266_270dup (p.Glu91fs)	MPZ	Pathogenic/Likely pathogenic	1	161276675	161276676	C	CGTCAA	criteria provided, multiple submitters, no conflicts	ClinGen:CA658653649
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.276G>A (p.Val92=)	MPZ	Likely pathogenic	1	161276670	161276670	C	T	criteria provided, single submitter	OMIM:159440.0035
single nucleotide variant	NM_000530.8(MPZ):c.277G>C (p.Gly93Arg)	MPZ	Likely pathogenic	1	161276669	161276669	C	G	criteria provided, single submitter	ClinGen:CA343349733
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