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_025137.4(SPG11):c.1457-2A>G	SPG11	Pathogenic	15	44941211	44941211	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA344297
single nucleotide variant	NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter)	SPG11	Likely pathogenic	15	44925759	44925759	G	C	criteria provided, single submitter	ClinGen:CA344304
Insertion	NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs)	SPG11	Pathogenic	15	44921484	44921485	A	AT	criteria provided, multiple submitters, no conflicts	ClinGen:CA344308
single nucleotide variant	NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter)	SPG11	Pathogenic	15	44920983	44920983	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA344310
Duplication	NM_025137.4(SPG11):c.2163dup (p.Ile722fs)	SPG11	Pathogenic	15	44918609	44918610	T	TA	criteria provided, multiple submitters, no conflicts	ClinGen:CA344314
single nucleotide variant	NM_025137.4(SPG11):c.2316+1G>A	SPG11	Pathogenic	15	44914925	44914925	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344315
single nucleotide variant	NM_025137.4(SPG11):c.2444+1G>C	SPG11	Pathogenic	15	44914417	44914417	C	G	criteria provided, single submitter	ClinGen:CA344317
single nucleotide variant	NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)	SPG11	Pathogenic	15	44952805	44952805	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA277361,OMIM:610844.0010
Deletion	NM_025137.4(SPG11):c.2716del (p.Gln906fs)	SPG11	Pathogenic	15	44912506	44912506	TG	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA344326
single nucleotide variant	NM_025137.4(SPG11):c.2833A>G (p.Arg945Gly)	SPG11	Pathogenic	15	44912389	44912389	T	C	criteria provided, single submitter	ClinGen:CA344327

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