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_000166.6(GJB1):c.164C>T (p.Thr55Ile)	GJB1	Pathogenic	X	70443721	70443721	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA340973,UniProtKB:P08034#VAR_008137,OMIM:304040.0016
single nucleotide variant	NM_003172.4(SURF1):c.751C>T (p.Gln251Ter)	SURF1	Pathogenic	9	136219301	136219301	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA122692,OMIM:185620.0001,OMIM:185620.0006
single nucleotide variant	NM_003172.4(SURF1):c.371G>A (p.Gly124Glu)	SURF1	Pathogenic	9	136220748	136220748	C	T	criteria provided, single submitter	ClinGen:CA122697,UniProtKB:Q15526#VAR_007450,OMIM:185620.0012
single nucleotide variant	NM_006158.5(NEFL):c.995A>C (p.Gln332Pro)	NEFL	Pathogenic	8	24813035	24813035	T	G	criteria provided, single submitter	OMIM:162280.0001,ClinGen:CA217588,UniProtKB:P07196#VAR_009703
single nucleotide variant	NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)	NEFL	Pathogenic/Likely pathogenic	8	24813966	24813966	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA217568,UniProtKB:P07196#VAR_016021,OMIM:162280.0002
single nucleotide variant	NM_000530.8(MPZ):c.286A>G (p.Lys96Glu)	MPZ	Pathogenic	1	161276660	161276660	T	C	criteria provided, single submitter	ClinGen:CA257142,UniProtKB:P25189#VAR_004517,OMIM:159440.0001
single nucleotide variant	NM_000530.8(MPZ):c.270C>A (p.Asp90Glu)	MPZ	Pathogenic	1	161276676	161276676	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA257144,UniProtKB:P25189#VAR_004515,OMIM:159440.0002
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
single nucleotide variant	NM_000530.8(MPZ):c.499G>C (p.Gly167Arg)	MPZ	Pathogenic	1	161276204	161276204	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA123798,UniProtKB:P25189#VAR_004544,OMIM:159440.0005
single nucleotide variant	NM_000530.8(MPZ):c.404T>C (p.Ile135Thr)	MPZ	Pathogenic/Likely pathogenic	1	161276542	161276542	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA257146,UniProtKB:P25189#VAR_004539,OMIM:159440.0007