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.292C>T (p.Arg98Cys)	MPZ	Pathogenic	1	161276654	161276654	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257152,UniProtKB:P25189#VAR_004518,OMIM:159440.0010
single nucleotide variant	NM_000530.8(MPZ):c.293G>A (p.Arg98His)	MPZ	Pathogenic/Likely pathogenic	1	161276653	161276653	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257154,UniProtKB:P25189#VAR_004519,OMIM:159440.0011
single nucleotide variant	NM_000530.8(MPZ):c.293G>C (p.Arg98Pro)	MPZ	Pathogenic/Likely pathogenic	1	161276653	161276653	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257150,UniProtKB:P25189#VAR_004520,OMIM:159440.0009
single nucleotide variant	NM_000530.8(MPZ):c.296T>C (p.Ile99Thr)	MPZ	Pathogenic	1	161276650	161276650	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.298C>T (p.Gln100Ter)	MPZ	Pathogenic	1	161276648	161276648	G	A	criteria provided, single submitter	ClinGen:CA343349564
single nucleotide variant	NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)	MPZ	Likely pathogenic	1	161276645	161276645	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609892
single nucleotide variant	NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)	MPZ	Pathogenic	1	161276644	161276644	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)	MPZ	Likely pathogenic	1	161276643	161276643	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)	MPZ	Pathogenic	1	161276643	161276643	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000530.8(MPZ):c.306del (p.Asp104fs)	MPZ	Pathogenic/Likely pathogenic	1	161276640	161276640	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA343903,OMIM:159440.0025