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
Duplication	NM_001042492.3(NF1):c.5469dup (p.Ile1824fs)	NF1	Pathogenic	17	29654716	29654717	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA251472,OMIM:613113.0032
single nucleotide variant	NM_001042492.3(NF1):c.5609+1G>A	NF1	Pathogenic	17	29654858	29654858	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA399010077
Indel	NM_001042492.3(NF1):c.5625_5630delinsG (p.Asn1875fs)	NF1	Pathogenic	17	29657329	29657334	TCTTCT	G	criteria provided, single submitter	ClinGen:CA645369723
Deletion	NM_001042492.3(NF1):c.6307del (p.Leu2103fs)	NF1	Pathogenic	17	29663811	29663811	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA645369721
Insertion	NM_001042492.3(NF1):c.6358_6359insTTTAA (p.Ala2120delinsValTer)	NF1	Pathogenic	17	29663863	29663864	G	GTTTAA	criteria provided, single submitter	ClinGen:CA645369650
Deletion	NM_001042492.3(NF1):c.6525_6537del (p.Ile2176fs)	NF1	Pathogenic	17	29664481	29664493	TGTCATTGCCTTCC	T	criteria provided, single submitter	ClinGen:CA645369725
single nucleotide variant	NM_001042492.3(NF1):c.6557C>G (p.Ser2186Ter)	NF1	Pathogenic	17	29664515	29664515	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA399013274
Deletion	NM_001042492.3(NF1):c.6569_6570del (p.Gly2190fs)	NF1	Pathogenic	17	29664527	29664528	GGC	G	criteria provided, single submitter	ClinGen:CA645369726
single nucleotide variant	NM_001042492.3(NF1):c.6715C>T (p.Gln2239Ter)	NF1	Pathogenic	17	29665053	29665053	C	T	criteria provided, single submitter	ClinGen:CA399014000
single nucleotide variant	NM_001042492.3(NF1):c.6922-1G>C	NF1	Pathogenic	17	29667522	29667522	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA399014838

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