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.131C>T (p.Ser44Phe)	MPZ	Pathogenic	1	161277151	161277151	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257162,UniProtKB:P25189#VAR_004503,OMIM:159440.0020
single nucleotide variant	NM_000530.8(MPZ):c.149G>T (p.Cys50Phe)	MPZ	Pathogenic	1	161277133	161277133	C	A	criteria provided, single submitter	ClinGen:CA10577216
Duplication	NM_000530.8(MPZ):c.149_151dup (p.Cys50dup)	MPZ	Likely pathogenic	1	161277130	161277131	G	GAGC	criteria provided, single submitter	ClinGen:CA16617015
single nucleotide variant	NM_000530.8(MPZ):c.152C>T (p.Ser51Phe)	MPZ	Pathogenic	1	161277130	161277130	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA343351152
single nucleotide variant	NM_000530.8(MPZ):c.159G>A (p.Trp53Ter)	MPZ	Pathogenic	1	161277123	161277123	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000530.8(MPZ):c.181G>A (p.Asp61Asn)	MPZ	Pathogenic	1	161277101	161277101	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA347381
single nucleotide variant	NM_000530.8(MPZ):c.182A>G (p.Asp61Gly)	MPZ	Pathogenic/Likely pathogenic	1	161277100	161277100	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA334216,UniProtKB:P25189#VAR_031885
Deletion	NM_000530.8(MPZ):c.188_190del (p.Ser63del)	MPZ	Pathogenic	1	161277092	161277094	AAGG	A	criteria provided, multiple submitters, no conflicts	OMIM:159440.0003,ClinGen:CA10584145
single nucleotide variant	NM_000530.8(MPZ):c.188C>T (p.Ser63Phe)	MPZ	Pathogenic/Likely pathogenic	1	161277094	161277094	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257156,UniProtKB:P25189#VAR_004509,OMIM:159440.0012
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