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
Deletion	NM_000530.8(MPZ):c.190_192del (p.Phe64del)	MPZ	Likely pathogenic	1	161277090	161277092	TGAA	T	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)	MPZ	Pathogenic/Likely pathogenic	1	161277088	161277088	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000530.8(MPZ):c.197G>A (p.Trp66Ter)	MPZ	Pathogenic	1	161277085	161277085	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.200G>C (p.Arg67Pro)	MPZ	Likely pathogenic	1	161277082	161277082	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.204C>A (p.Tyr68Ter)	MPZ	Pathogenic	1	161277078	161277078	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.208C>T (p.Pro70Ser)	MPZ	Pathogenic	1	161277074	161277074	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.211G>T (p.Glu71Ter)	MPZ	Pathogenic	1	161277071	161277071	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.224A>T (p.Asp75Val)	MPZ	Pathogenic	1	161277058	161277058	T	A	criteria provided, single submitter	ClinGen:CA257160,UniProtKB:P25189#VAR_015973,OMIM:159440.0019
single nucleotide variant	NM_000530.8(MPZ):c.233C>G (p.Ser78Trp)	MPZ	Pathogenic/Likely pathogenic	1	161277049	161277049	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16609896
single nucleotide variant	NM_000530.8(MPZ):c.233C>T (p.Ser78Leu)	MPZ	Pathogenic	1	161277049	161277049	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA123805,UniProtKB:P25189#VAR_004512,OMIM:159440.0023