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_014874.4(MFN2):c.395G>A (p.Cys132Tyr)	MFN2	Likely pathogenic	1	12056296	12056296	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.692C>T (p.Ser231Phe)	MFN2	Pathogenic/Likely pathogenic	1	12058919	12058919	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014874.4(MFN2):c.742C>G (p.Leu248Val)	MFN2	Likely pathogenic	1	12059078	12059078	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.752C>T (p.Pro251Leu)	MFN2	Pathogenic	1	12059088	12059088	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.776G>T (p.Arg259Leu)	MFN2	Pathogenic	1	12059112	12059112	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.821G>A (p.Arg274Gln)	MFN2	Likely pathogenic	1	12061462	12061462	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.922G>T (p.Glu308Ter)	MFN2	Pathogenic	1	12061563	12061563	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_014874.4(MFN2):c.1081C>T (p.His361Tyr)	MFN2	Pathogenic	1	12062081	12062081	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.1127T>G (p.Met376Arg)	MFN2	Pathogenic	1	12062127	12062127	T	G	criteria provided, single submitter	-
single nucleotide variant	NM_014874.4(MFN2):c.2037C>G (p.Tyr679Ter)	MFN2	Pathogenic	1	12067274	12067274	C	G	criteria provided, single submitter	-

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