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_181882.3(PRX):c.1174C>T (p.Arg392Ter)	PRX	Pathogenic	19	40903085	40903085	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA9444311
single nucleotide variant	NM_002764.4(PRPS1):c.319A>G (p.Ile107Val)	PRPS1	Likely pathogenic	X	106884144	106884144	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584629
single nucleotide variant	NM_002764.4(PRPS1):c.361G>A (p.Ala121Thr)	PRPS1	Likely pathogenic	X	106884186	106884186	G	A	criteria provided, single submitter	ClinGen:CA10584630
single nucleotide variant	NM_000166.6(GJB1):c.-17G>A	GJB1	Pathogenic/Likely pathogenic	X	70443185	70443185	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584632
single nucleotide variant	NM_000166.6(GJB1):c.112G>A (p.Val38Met)	GJB1	Pathogenic	X	70443669	70443669	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584634,UniProtKB:P08034#VAR_002033
single nucleotide variant	NM_000166.6(GJB1):c.132G>C (p.Trp44Cys)	GJB1	Likely pathogenic	X	70443689	70443689	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584635
single nucleotide variant	NM_000166.6(GJB1):c.231G>A (p.Trp77Ter)	GJB1	Pathogenic	X	70443788	70443788	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584636
single nucleotide variant	NM_000166.6(GJB1):c.282C>A (p.His94Gln)	GJB1	Pathogenic/Likely pathogenic	X	70443839	70443839	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584638,UniProtKB:P08034#VAR_002070
Deletion	NM_000166.6(GJB1):c.396del (p.Trp132fs)	GJB1	Pathogenic	X	70443952	70443952	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10584640
single nucleotide variant	NM_000166.6(GJB1):c.439G>A (p.Ala147Thr)	GJB1	Likely pathogenic	X	70443996	70443996	G	A	criteria provided, single submitter	ClinGen:CA10584641