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
Deletion	NM_001042492.3(NF1):c.653del (p.Lys218fs)	NF1	Pathogenic	17	29508503	29508503	GA	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.681T>G (p.Tyr227Ter)	NF1	Pathogenic	17	29508754	29508754	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.715C>T (p.Gln239Ter)	NF1	Pathogenic	17	29508788	29508788	C	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.787A>G (p.Lys263Glu)	NF1	Likely pathogenic	17	29509582	29509582	A	G	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.790del (p.Ala264fs)	NF1	Pathogenic	17	29509585	29509585	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.808C>T (p.Gln270Ter)	NF1	Pathogenic/Likely pathogenic	17	29509603	29509603	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.964del (p.Ile322fs)	NF1	Pathogenic	17	29527514	29527514	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.972T>A (p.Cys324Ter)	NF1	Pathogenic/Likely pathogenic	17	29527523	29527523	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.999C>G (p.Tyr333Ter)	NF1	Pathogenic	17	29527550	29527550	C	G	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.1066del (p.Leu356fs)	NF1	Pathogenic	17	29528057	29528057	AC	A	criteria provided, single submitter	-

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