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.236T>G (p.Leu79Ter)	NF1	Pathogenic	17	29486059	29486059	T	G	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001042492.3(NF1):c.243_254delinsTGAGAGAGA (p.Ser82_Ile85delinsGluArgAsp)	NF1	Likely pathogenic	17	29486066	29486077	CTCTCAGTTGAT	TGAGAGAGA	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.244T>C (p.Ser82Pro)	NF1	Pathogenic	17	29486067	29486067	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.247C>T (p.Gln83Ter)	NF1	Pathogenic	17	29486070	29486070	C	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.248A>C (p.Gln83Pro)	NF1	Pathogenic/Likely pathogenic	17	29486071	29486071	A	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.279T>A (p.Cys93Ter)	NF1	Pathogenic	17	29486102	29486102	T	A	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.338dup (p.Leu113fs)	NF1	Pathogenic	17	29490251	29490252	G	GT	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.370del (p.Cys124fs)	NF1	Pathogenic	17	29490285	29490285	CT	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.412G>C (p.Ala138Pro)	NF1	Pathogenic/Likely pathogenic	17	29490327	29490327	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.581T>C (p.Leu194Pro)	NF1	Pathogenic	17	29497010	29497010	T	C	criteria provided, single submitter	-

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