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
Insertion	NM_000267.3(NF1):c.7901_7902ins11 (p.?)	NF1	Pathogenic	17	29684381	29684382	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.8009C>A (p.Ser2670Ter)	NF1	Pathogenic	17	29685536	29685536	C	A	criteria provided, single submitter	ClinGen:CA399203665
single nucleotide variant	NM_001042492.3(NF1):c.503C>G (p.Ser168Ter)	NF1	Pathogenic	17	29496932	29496932	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398984855
single nucleotide variant	NM_001042492.3(NF1):c.1453G>T (p.Glu485Ter)	NF1	Pathogenic	17	29541529	29541529	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399001544
Deletion	NM_001042492.3(NF1):c.1863del (p.Cys622fs)	NF1	Pathogenic	17	29552129	29552129	TC	T	criteria provided, single submitter	ClinGen:CA645369656
single nucleotide variant	NM_001042492.3(NF1):c.3002T>A (p.Val1001Glu)	NF1	Likely pathogenic	17	29557289	29557289	T	A	criteria provided, single submitter	ClinGen:CA398986539
single nucleotide variant	NM_001042492.3(NF1):c.1722-2A>G	NF1	Pathogenic	17	29550460	29550460	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA399003934
Deletion	NM_001042492.3(NF1):c.496_497del (p.Val166fs)	NF1	Pathogenic	17	29496924	29496925	CTG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372607
single nucleotide variant	NM_001042492.3(NF1):c.586+2T>C	NF1	Pathogenic	17	29497017	29497017	T	C	criteria provided, single submitter	ClinGen:CA398985553
Duplication	NM_001042492.3(NF1):c.610dup (p.Leu204fs)	NF1	Pathogenic/Likely pathogenic	17	29508460	29508461	G	GC	criteria provided, multiple submitters, no conflicts	ClinGen:CA645372611

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