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
single nucleotide variant	NM_001042492.3(NF1):c.886A>T (p.Lys296Ter)	NF1	Pathogenic	17	29509681	29509681	A	T	criteria provided, single submitter	ClinGen:CA398991305
single nucleotide variant	NM_001042492.3(NF1):c.888+1G>C	NF1	Pathogenic	17	29509684	29509684	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA398991319
single nucleotide variant	NM_001042492.3(NF1):c.889-1G>A	NF1	Pathogenic/Likely pathogenic	17	29527439	29527439	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA398995477
single nucleotide variant	NM_001042492.3(NF1):c.1061A>G (p.Lys354Arg)	NF1	Likely pathogenic	17	29527612	29527612	A	G	criteria provided, single submitter	ClinGen:CA398996566
Deletion	NM_001042492.3(NF1):c.1400del (p.Thr467fs)	NF1	Pathogenic	17	29541476	29541476	AC	A	criteria provided, single submitter	ClinGen:CA645373086
single nucleotide variant	NM_001042492.3(NF1):c.1527+1G>C	NF1	Pathogenic/Likely pathogenic	17	29541604	29541604	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA399001712
single nucleotide variant	NM_001042492.3(NF1):c.1570G>T (p.Glu524Ter)	NF1	Pathogenic	17	29546065	29546065	G	T	criteria provided, single submitter	ClinGen:CA399001902
single nucleotide variant	NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe)	NF1	Likely pathogenic	17	29546080	29546080	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA399001938
Deletion	NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs)	NF1	Pathogenic	17	29548890	29548893	TTAGA	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA645373091
single nucleotide variant	NM_001042492.3(NF1):c.1683G>A (p.Trp561Ter)	NF1	Pathogenic	17	29548909	29548909	G	A	criteria provided, single submitter	ClinGen:CA399002298

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