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.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
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.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.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.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.371C>T (p.Thr124Met)	MPZ	Pathogenic	1	161276575	161276575	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA257158,UniProtKB:P25189#VAR_004529,OMIM:159440.0016
single nucleotide variant	NM_000530.8(MPZ):c.103G>T (p.Asp35Tyr)	MPZ	Pathogenic/Likely pathogenic	1	161277179	161277179	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA250638,UniProtKB:P25189#VAR_015971,OMIM:159440.0018
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.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