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	NM_001042492.3(NF1):c.2934del (p.Ser979fs)	NF1	Pathogenic	17	29556936	29556936	GC	G	criteria provided, single submitter	ClinGen:CA658656551
Deletion	NM_001042492.3(NF1):c.2952del (p.Gln985fs)	NF1	Pathogenic	17	29556952	29556952	AG	A	criteria provided, single submitter	ClinGen:CA658656552
single nucleotide variant	NM_001042492.3(NF1):c.3315-2A>G	NF1	Pathogenic/Likely pathogenic	17	29559716	29559716	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398988952
Duplication	NM_001042492.3(NF1):c.3948dup (p.Val1317fs)	NF1	Pathogenic	17	29563012	29563013	A	AT	criteria provided, single submitter	ClinGen:CA658656600
single nucleotide variant	NM_001042492.3(NF1):c.1733T>C (p.Leu578Pro)	NF1	Pathogenic/Likely pathogenic	17	29550473	29550473	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA399004013
Deletion	NM_001042492.3(NF1):c.2136_2142del (p.His712fs)	NF1	Pathogenic	17	29553587	29553593	ACCTCTGT	A	criteria provided, single submitter	ClinGen:CA658656606
single nucleotide variant	NM_001042492.3(NF1):c.2326-2A>G	NF1	Pathogenic/Likely pathogenic	17	29554539	29554539	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398982986
single nucleotide variant	NM_001042492.3(NF1):c.4174-2A>G	NF1	Pathogenic	17	29585360	29585360	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398997467
Deletion	NM_001042492.3(NF1):c.4263del (p.Tyr1422fs)	NF1	Pathogenic	17	29585451	29585451	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA658658572
single nucleotide variant	NM_001042492.3(NF1):c.4370A>G (p.Lys1457Arg)	NF1	Likely pathogenic	17	29586087	29586087	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA398998804

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