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.4824T>A (p.Tyr1608Ter)	NF1	Pathogenic	17	29592346	29592346	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.5959C>T (p.Gln1987Ter)	NF1	Pathogenic	17	29662002	29662002	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.4316T>A (p.Leu1439Ter)	NF1	Pathogenic/Likely pathogenic	17	29585504	29585504	T	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1527+5G>T	NF1	Pathogenic	17	29541608	29541608	G	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4406_4418del (p.Lys1469fs)	NF1	Likely pathogenic	17	29586120	29586132	GTGAAAAGCAACTT	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.4405A>T (p.Lys1469Ter)	NF1	Pathogenic	17	29586122	29586122	A	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.7278T>A (p.Cys2426Ter)	NF1	Pathogenic	17	29676226	29676226	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly)	NF1	Pathogenic/Likely pathogenic	17	29554544	29554544	T	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3708+1G>A	NF1	Pathogenic	17	29560232	29560232	G	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.2388del (p.Ala797fs)	NF1	Pathogenic	17	29554600	29554600	CA	C	criteria provided, single submitter	-

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