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
single nucleotide variant	NM_001042492.3(NF1):c.5812+2T>C	NF1	Pathogenic	17	29657518	29657518	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.6007-2A>G	NF1	Pathogenic	17	29663349	29663349	A	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.6007-1G>A	NF1	Likely pathogenic	17	29663350	29663350	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6147+2T>C	NF1	Pathogenic/Likely pathogenic	17	29663493	29663493	T	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.6227_6228dup (p.Asp2077fs)	NF1	Likely pathogenic	17	29663731	29663732	G	GAT	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.6304dup (p.Tyr2102fs)	NF1	Likely pathogenic	17	29663808	29663809	C	CT	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.6645del (p.Cys2216fs)	NF1	Likely pathogenic	17	29664839	29664839	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6669C>A (p.Cys2223Ter)	NF1	Pathogenic/Likely pathogenic	17	29664863	29664863	C	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.6671del (p.Lys2224fs)	NF1	Likely pathogenic	17	29664864	29664864	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.6704+1G>T	NF1	Pathogenic	17	29664899	29664899	G	T	criteria provided, multiple submitters, no conflicts	-

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