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

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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.2356C>T (p.Gln786Ter)	NF1	Pathogenic	17	29554571	29554571	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.2552del (p.Cys851fs)	NF1	Likely pathogenic	17	29556185	29556185	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2560C>T (p.Gln854Ter)	NF1	Pathogenic/Likely pathogenic	17	29556193	29556193	C	T	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.2739dup (p.Arg914fs)	NF1	Likely pathogenic	17	29556371	29556372	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2786T>C (p.Leu929Pro)	NF1	Pathogenic/Likely pathogenic	17	29556419	29556419	T	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.2842dup (p.Gln948fs)	NF1	Likely pathogenic	17	29556472	29556473	T	TC	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.2846dup (p.Gln950fs)	NF1	Pathogenic/Likely pathogenic	17	29556477	29556478	A	AG	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2850+1G>A	NF1	Pathogenic	17	29556484	29556484	G	A	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001042492.3(NF1):c.2873_2877delinsTGG (p.Thr958fs)	NF1	Likely pathogenic	17	29556875	29556879	CTCAA	TGG	criteria provided, single submitter	-
Insertion	NM_001042492.3(NF1):c.2876_2877insG (p.Phe960fs)	NF1	Likely pathogenic	17	29556878	29556879	A	AG	criteria provided, single submitter	-

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