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.4375G>T (p.Glu1459Ter)	NF1	Pathogenic	17	29586092	29586092	G	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4404del (p.Ser1470fs)	NF1	Pathogenic	17	29586121	29586121	TG	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4481del (p.His1494fs)	NF1	Pathogenic	17	29587437	29587437	CA	C	criteria provided, single submitter	-
Indel	NM_001042492.3(NF1):c.4495delinsTG (p.Ile1499fs)	NF1	Pathogenic	17	29587451	29587451	A	TG	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4581del (p.His1528fs)	NF1	Pathogenic	17	29588732	29588732	AT	A	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4618del (p.Ala1540fs)	NF1	Pathogenic	17	29588768	29588768	TG	T	criteria provided, single submitter	-
Deletion	NM_001042492.3(NF1):c.4631del (p.Ala1544fs)	NF1	Pathogenic	17	29588782	29588782	GC	G	criteria provided, single submitter	-
Indel	NM_001042492.3(NF1):c.4738_4745delinsAAAAAGG (p.Glu1580fs)	NF1	Pathogenic	17	29592260	29592267	GAAAAAGA	AAAAAGG	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.4783C>T (p.Gln1595Ter)	NF1	Pathogenic	17	29592305	29592305	C	T	criteria provided, multiple submitters, no conflicts	-
Indel	NM_001042492.3(NF1):c.4832_4834delinsAC (p.Arg1611fs)	NF1	Pathogenic	17	29592354	29592356	GGA	AC	criteria provided, single submitter	-

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