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_003680.4(YARS1):c.499C>A (p.Pro167Thr)	YARS1	Pathogenic/Likely pathogenic	1	33272094	33272094	G	T	criteria provided, multiple submitters, no conflicts	OMIM:603623.0008
single nucleotide variant	NM_003680.4(YARS1):c.586G>C (p.Glu196Gln)	YARS1	Pathogenic/Likely pathogenic	1	33263369	33263369	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584076
single nucleotide variant	NM_003680.4(YARS1):c.586G>A (p.Glu196Lys)	YARS1	Pathogenic	1	33263369	33263369	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA118054,UniProtKB:P54577#VAR_026684,OMIM:603623.0002
single nucleotide variant	NM_003680.4(YARS1):c.121G>A (p.Gly41Arg)	YARS1	Pathogenic	1	33276595	33276595	C	T	criteria provided, single submitter	ClinGen:CA118052,UniProtKB:P54577#VAR_026681,OMIM:603623.0001
single nucleotide variant	NM_007126.5(VCP):c.409C>T (p.Pro137Ser)	VCP	Likely pathogenic	9	35066708	35066708	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_007126.5(VCP):c.277C>T (p.Arg93Cys)	VCP	Pathogenic	9	35067913	35067913	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_007126.5(VCP):c.278G>A (p.Arg93His)	VCP	Likely pathogenic	9	35067912	35067912	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA5039527
single nucleotide variant	NM_007126.5(VCP):c.2077C>T (p.Arg693Cys)	VCP	Likely pathogenic	9	35059144	35059144	G	A	criteria provided, single submitter	ClinGen:CA373273844
single nucleotide variant	NM_007126.5(VCP):c.383G>C (p.Gly128Ala)	VCP	Likely pathogenic	9	35066734	35066734	C	G	criteria provided, single submitter	ClinGen:CA373291969
single nucleotide variant	NM_007126.5(VCP):c.475C>T (p.Arg159Cys)	VCP	Pathogenic/Likely pathogenic	9	35065349	35065349	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA5039453