シャルコー・マリー・トゥース病 - MGenReviews

シャルコー・マリー・トゥース病

小児・神経疾患

疾患の紹介

病的バリアントリスト

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最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。

https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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.260C>T (p.Pro87Leu)	GJB1	Pathogenic	X	70443817	70443817	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.280C>T (p.His94Tyr)	GJB1	Likely pathogenic	X	70443837	70443837	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.281A>G (p.His94Arg)	GJB1	Pathogenic	X	70443838	70443838	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.286G>C (p.Ala96Pro)	GJB1	Pathogenic	X	70443843	70443843	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.298C>T (p.His100Tyr)	GJB1	Pathogenic	X	70443855	70443855	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.300C>G (p.His100Gln)	GJB1	Likely pathogenic	X	70443857	70443857	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.381C>G (p.Ile127Met)	GJB1	Pathogenic	X	70443938	70443938	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.445T>A (p.Phe149Ile)	GJB1	Likely pathogenic	X	70444002	70444002	T	A	criteria provided, single submitter	-
Deletion	NM_000166.6(GJB1):c.454del (p.Val152fs)	GJB1	Pathogenic	X	70444011	70444011	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.479A>G (p.Tyr160Cys)	GJB1	Likely pathogenic	X	70444036	70444036	A	G	criteria provided, single submitter	-

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