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.113T>C (p.Val38Ala)	GJB1	Likely pathogenic	X	70443670	70443670	T	C	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.124A>T (p.Ser42Cys)	GJB1	Likely pathogenic	X	70443681	70443681	A	T	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.191G>A (p.Cys64Tyr)	GJB1	Pathogenic	X	70443748	70443748	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.195T>G (p.Tyr65Ter)	GJB1	Pathogenic	X	70443752	70443752	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.205T>C (p.Phe69Leu)	GJB1	Pathogenic	X	70443762	70443762	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.238C>T (p.Gln80Ter)	GJB1	Pathogenic	X	70443795	70443795	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.241C>T (p.Leu81Phe)	GJB1	Likely pathogenic	X	70443798	70443798	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_000166.6(GJB1):c.257C>T (p.Thr86Ile)	GJB1	Likely pathogenic	X	70443814	70443814	C	T	criteria provided, single submitter	-

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