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.2851-1G>A	NF1	Pathogenic/Likely pathogenic	17	29556852	29556852	G	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.3197+2del	NF1	Likely pathogenic	17	29557945	29557945	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3315-1G>A	NF1	Pathogenic	17	29559717	29559717	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.3974+1G>A	NF1	Pathogenic	17	29563040	29563040	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.6643-2A>G	NF1	Pathogenic	17	29664835	29664835	A	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.6704+1del	NF1	Pathogenic/Likely pathogenic	17	29664898	29664898	AG	A	criteria provided, multiple submitters, no conflicts	-
Deletion	NC_000017.11:g.(?_31169881)_(31374165_?)del	NF1	Pathogenic	17	29496899	29701183	na	na	criteria provided, single submitter	-
Duplication	NC_000017.10:g.(?_29540877)_(29563299_?)dup	NF1	Likely pathogenic	17	29540877	29563299	na	na	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.1260+2dup	NF1	Likely pathogenic	17	29528504	29528505	G	GT	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1260+5G>A	NF1	Pathogenic	17	29528508	29528508	G	A	criteria provided, single submitter	-

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