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_007126.5(VCP):c.290G>A (p.Gly97Glu)	VCP	Pathogenic	9	35067900	35067900	C	T	criteria provided, single submitter	ClinGen:CA213389,UniProtKB:P55072#VAR_076464,OMIM:601023.0011
single nucleotide variant	NM_007126.5(VCP):c.553G>A (p.Glu185Lys)	VCP	Likely pathogenic	9	35065271	35065271	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA213386,UniProtKB:P55072#VAR_076467,OMIM:601023.0010
single nucleotide variant	NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)	VCP	Pathogenic	9	35067919	35067919	T	A	criteria provided, single submitter	ClinGen:CA279635,OMIM:601023.0012
single nucleotide variant	NM_007126.5(VCP):c.463C>G (p.Arg155Gly)	VCP	Pathogenic/Likely pathogenic	9	35065361	35065361	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA277489
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
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.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.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.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_021625.5(TRPV4):c.710G>T (p.Arg237Leu)	TRPV4	Likely pathogenic	12	110240798	110240798	C	A	criteria provided, single submitter	ClinGen:CA386655927