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.199G>C (p.Ala67Pro)	PMP22	Pathogenic/Likely pathogenic	17	15142908	15142908	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA340786,UniProtKB:Q01453#VAR_009661,OMIM:601097.0010
Duplication	NM_000304.4(PMP22):c.281dup (p.Arg95fs)	PMP22	Pathogenic/Likely pathogenic	17	15142825	15142826	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA277605,OMIM:601097.0011
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_001605.3(AARS1):c.986G>A (p.Arg329His)	AARS1	Pathogenic/Likely pathogenic	16	70302259	70302259	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254396,UniProtKB:P49588#VAR_063527,OMIM:601065.0001
single nucleotide variant	NM_007126.5(VCP):c.464G>A (p.Arg155His)	VCP	Pathogenic	9	35065360	35065360	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA128983,UniProtKB:P55072#VAR_033018,OMIM:601023.0001
single nucleotide variant	NM_007126.5(VCP):c.463C>T (p.Arg155Cys)	VCP	Pathogenic/Likely pathogenic	9	35065361	35065361	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA254398,UniProtKB:P55072#VAR_033017,OMIM:601023.0002
single nucleotide variant	NM_007126.5(VCP):c.695C>A (p.Ala232Glu)	VCP	Pathogenic	9	35064164	35064164	G	T	criteria provided, single submitter	ClinGen:CA254400,UniProtKB:P55072#VAR_033022,OMIM:601023.0003
single nucleotide variant	NM_007126.5(VCP):c.572G>A (p.Arg191Gln)	VCP	Pathogenic/Likely pathogenic	9	35065252	35065252	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254406,UniProtKB:P55072#VAR_033021,OMIM:601023.0006
single nucleotide variant	NM_007126.5(VCP):c.476G>A (p.Arg159His)	VCP	Pathogenic	9	35065348	35065348	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA254408,UniProtKB:P55072#VAR_033020,OMIM:601023.0007