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.191G>A (p.Cys64Tyr)	GJB1	Pathogenic	X	70443748	70443748	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.127G>A (p.Val43Met)	GJB1	Likely pathogenic	X	70443684	70443684	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)	GJB1	Likely pathogenic	X	70443681	70443681	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.119C>T (p.Ala40Val)	GJB1	Pathogenic	X	70443676	70443676	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.113T>C (p.Val38Ala)	GJB1	Likely pathogenic	X	70443670	70443670	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.89T>C (p.Ile30Thr)	GJB1	Pathogenic	X	70443646	70443646	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.68T>C (p.Val23Ala)	GJB1	Pathogenic	X	70443625	70443625	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.47A>T (p.His16Leu)	GJB1	Pathogenic	X	70443604	70443604	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.633C>A (p.Tyr211Ter)	GJB1	Pathogenic	X	70444190	70444190	C	A	criteria provided, single submitter	-
Duplication	NM_000166.6(GJB1):c.842dup (p.Ala282fs)	GJB1	Likely pathogenic	X	70444398	70444399	T	TC	criteria provided, single submitter	-