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_000304.4(PMP22):c.82T>C (p.Trp28Arg)	PMP22	Likely pathogenic	17	15162507	15162507	A	G	criteria provided, single submitter	ClinGen:CA342724,UniProtKB:Q01453#VAR_029963,OMIM:601097.0014
single nucleotide variant	NM_000304.4(PMP22):c.199G>A (p.Ala67Thr)	PMP22	Likely pathogenic	17	15142908	15142908	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254388,UniProtKB:Q01453#VAR_029965,OMIM:601097.0017
single nucleotide variant	NM_002764.4(PRPS1):c.341A>G (p.Asn114Ser)	PRPS1	Likely pathogenic	X	106884166	106884166	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA254933,UniProtKB:P60891#VAR_004163,OMIM:311850.0001
single nucleotide variant	NM_002764.4(PRPS1):c.547G>C (p.Asp183His)	PRPS1	Likely pathogenic	X	106888423	106888423	G	C	criteria provided, single submitter	ClinGen:CA254935,UniProtKB:P60891#VAR_004164,OMIM:311850.0002
single nucleotide variant	NM_002764.4(PRPS1):c.344T>C (p.Met115Thr)	PRPS1	Likely pathogenic	X	106884169	106884169	T	C	criteria provided, single submitter	ClinGen:CA340960,UniProtKB:P60891#VAR_036942,OMIM:311850.0010
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.276G>A (p.Val92=)	MPZ	Likely pathogenic	1	161276670	161276670	C	T	criteria provided, single submitter	OMIM:159440.0035
single nucleotide variant	NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)	LMNA	Likely pathogenic	1	156100449	156100449	G	C	criteria provided, single submitter	ClinGen:CA018038,UniProtKB:P02545#VAR_017657,OMIM:150330.0032
single nucleotide variant	NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)	LMNA	Likely pathogenic	1	156104733	156104733	T	A	criteria provided, single submitter	ClinGen:CA018615,OMIM:150330.0035
single nucleotide variant	NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr)	GJB1	Likely pathogenic	X	70444093	70444093	G	A	criteria provided, single submitter	ClinGen:CA341605