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	NC_000017.10:g.(?_29486022)_(29533395_?)del	NF1	Pathogenic	17	29486022	29533395	na	na	criteria provided, single submitter	-
Deletion	NC_000017.10:g.(?_29508434)_(29509689_?)del	NF1	Pathogenic	17	29508434	29509689	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31155977)_(31374161_?)del	NF1	Pathogenic	17	29482995	29701179	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31179106)_(31357039_?)del	NF1	Pathogenic	17	29506124	29684057	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31325814)_(31338145_?)del	NF1	Pathogenic	17	29652832	29665163	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.731-2A>T	NF1	Pathogenic	17	29509524	29509524	A	T	criteria provided, single submitter	ClinGen:CA398990437
Deletion	NM_001042492.3(NF1):c.1514del (p.Lys505fs)	NF1	Pathogenic	17	29541588	29541588	CA	C	criteria provided, single submitter	ClinGen:CA658656586
Duplication	NM_001042492.3(NF1):c.1882dup (p.Tyr628fs)	NF1	Pathogenic	17	29552143	29552144	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA499231071
single nucleotide variant	NM_001042492.3(NF1):c.1884C>A (p.Tyr628Ter)	NF1	Pathogenic	17	29552151	29552151	C	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399005169
single nucleotide variant	NM_001042492.3(NF1):c.2072T>G (p.Leu691Arg)	NF1	Pathogenic/Likely pathogenic	17	29553523	29553523	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398982165

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