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.4430+1G>C	NF1	Pathogenic/Likely pathogenic	17	29586148	29586148	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.4586A>G (p.Lys1529Arg)	NF1	Pathogenic	17	29588737	29588737	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4635C>G (p.Tyr1545Ter)	NF1	Pathogenic	17	29588786	29588786	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.4658del (p.Pro1553fs)	NF1	Pathogenic/Likely pathogenic	17	29588808	29588808	AC	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.4744_4745del (p.Glu1582fs)	NF1	Pathogenic/Likely pathogenic	17	29592265	29592266	AAG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.4783del (p.Gln1595fs)	NF1	Pathogenic	17	29592304	29592304	AC	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4821T>A (p.Tyr1607Ter)	NF1	Likely pathogenic	17	29592343	29592343	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4835+1G>A	NF1	Pathogenic	17	29592358	29592358	G	A	criteria provided, multiple submitters, no conflicts	-
Duplication	NM_001042492.3(NF1):c.5065dup (p.Tyr1689fs)	NF1	Likely pathogenic	17	29653066	29653067	G	GT	criteria provided, single submitter	-
Indel	NM_001042492.3(NF1):c.5072_5073delinsCCC (p.Lys1691fs)	NF1	Likely pathogenic	17	29653074	29653075	AG	CCC	criteria provided, single submitter	-

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