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
single nucleotide variant	NM_001042492.3(NF1):c.3500T>G (p.Leu1167Ter)	NF1	Pathogenic	17	29560023	29560023	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA334775
single nucleotide variant	NM_001042492.3(NF1):c.4332+2T>C	NF1	Pathogenic/Likely pathogenic	17	29585522	29585522	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA334574
single nucleotide variant	NM_001042492.3(NF1):c.4340A>G (p.Gln1447Arg)	NF1	Pathogenic	17	29586057	29586057	A	G	criteria provided, single submitter	ClinGen:CA334363
single nucleotide variant	NM_001042492.3(NF1):c.4729C>T (p.Gln1577Ter)	NF1	Pathogenic	17	29592251	29592251	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA204853
single nucleotide variant	NM_001042492.3(NF1):c.5488C>A (p.Arg1830Ser)	NF1	Pathogenic	17	29654736	29654736	C	A	criteria provided, single submitter	ClinGen:CA276055
single nucleotide variant	NM_001042492.3(NF1):c.5488C>G (p.Arg1830Gly)	NF1	Pathogenic/Likely pathogenic	17	29654736	29654736	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA276060
single nucleotide variant	NM_001042492.3(NF1):c.5488C>T (p.Arg1830Cys)	NF1	Pathogenic	17	29654736	29654736	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA276040
single nucleotide variant	NM_001042492.3(NF1):c.5489G>C (p.Arg1830Pro)	NF1	Pathogenic	17	29654737	29654737	G	C	criteria provided, single submitter	ClinGen:CA276050
single nucleotide variant	NM_001042492.3(NF1):c.5489G>T (p.Arg1830Leu)	NF1	Pathogenic/Likely pathogenic	17	29654737	29654737	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA276045
Deletion	NM_001042492.3(NF1):c.1059del (p.Lys354fs)	NF1	Pathogenic	17	29527609	29527609	CT	C	criteria provided, single submitter	ClinGen:CA336562

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