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.2325+1G>T	NF1	Pathogenic	17	29554310	29554310	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2326-1G>C	NF1	Pathogenic/Likely pathogenic	17	29554540	29554540	G	C	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.2338dup (p.Thr780fs)	NF1	Pathogenic	17	29554552	29554553	T	TA	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.2407C>T (p.Gln803Ter)	NF1	Pathogenic	17	29554622	29554622	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.2410-18C>G	NF1	Pathogenic	17	29556025	29556025	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.2424del (p.His809fs)	NF1	Pathogenic	17	29556056	29556056	CT	C	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.2622_2629del (p.Lys874fs)	NF1	Pathogenic	17	29556254	29556261	AAGGGTTCT	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3089C>G (p.Ser1030Ter)	NF1	Pathogenic	17	29557376	29557376	C	G	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3315-1G>C	NF1	Pathogenic	17	29559717	29559717	G	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3870+1G>T	NF1	Pathogenic	17	29562791	29562791	G	T	criteria provided, multiple submitters, no conflicts	-

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