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
Deletion	NM_001042492.3(NF1):c.1095_1096del (p.Gly367fs)	NF1	Pathogenic	17	29528087	29528088	CAA	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1174C>T (p.Gln392Ter)	NF1	Pathogenic	17	29528166	29528166	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1238C>A (p.Ser413Ter)	NF1	Pathogenic	17	29528481	29528481	C	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1340T>C (p.Leu447Pro)	NF1	Likely pathogenic	17	29533337	29533337	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1783G>T (p.Glu595Ter)	NF1	Pathogenic	17	29550523	29550523	G	T	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.1804dup (p.Glu602fs)	NF1	Pathogenic	17	29550541	29550542	C	CG	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.1861del (p.Ser621fs)	NF1	Pathogenic	17	29552127	29552127	GT	G	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.1895del (p.Cys632fs)	NF1	Pathogenic	17	29552162	29552162	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1984A>T (p.Lys662Ter)	NF1	Pathogenic	17	29552251	29552251	A	T	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.2045_2049dup (p.Gln684fs)	NF1	Pathogenic	17	29553494	29553495	A	ACAAGC	criteria provided, single submitter	-

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