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.1672del (p.Ile558fs)	NF1	Pathogenic	17	29548898	29548898	CA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2509T>C (p.Trp837Arg)	NF1	Likely pathogenic	17	29556142	29556142	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2842C>T (p.Gln948Ter)	NF1	Pathogenic	17	29556475	29556475	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.5855G>A (p.Trp1952Ter)	NF1	Pathogenic	17	29661898	29661898	G	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.5938del (p.Thr1980fs)	NF1	Pathogenic	17	29661980	29661980	TA	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.7964del (p.Pro2655fs)	NF1	Pathogenic	17	29684380	29684380	TC	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.121G>T (p.Glu41Ter)	NF1	Pathogenic	17	29483061	29483061	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2142T>A (p.Cys714Ter)	NF1	Pathogenic	17	29553593	29553593	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3106A>T (p.Lys1036Ter)	NF1	Pathogenic	17	29557393	29557393	A	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4798A>T (p.Lys1600Ter)	NF1	Pathogenic	17	29592320	29592320	A	T	criteria provided, single submitter	-

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