神経線維腫症I型 - MGenReviews

神経線維腫症I型

小児・神経疾患

疾患の紹介

病的バリアントリスト

Excelでダウンロード

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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
Duplication	NM_001042492.3(NF1):c.7701dup (p.Lys2568fs)	NF1	Pathogenic	17	29683557	29683558	A	AC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.7753del (p.Ser2585fs)	NF1	Likely pathogenic	17	29683990	29683990	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.7906C>T (p.Gln2636Ter)	NF1	Pathogenic	17	29684323	29684323	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.8159del (p.Lys2720fs)	NF1	Likely pathogenic	17	29686030	29686030	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.8160+1G>A	NF1	Likely pathogenic	17	29686034	29686034	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.479+1G>T	NF1	Pathogenic/Likely pathogenic	17	29490395	29490395	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.480-2A>G	NF1	Pathogenic	17	29496907	29496907	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.723_731del (p.Asp241_Ala243del)	NF1	Likely pathogenic	17	29508792	29508800	ACTGATATGG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1722-1G>A	NF1	Pathogenic/Likely pathogenic	17	29550461	29550461	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1754T>G (p.Leu585Ter)	NF1	Pathogenic	17	29550494	29550494	T	G	criteria provided, multiple submitters, no conflicts	-

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