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.4332+1G>T	NF1	Pathogenic	17	29585521	29585521	G	T	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.5609+5G>A	NF1	Pathogenic	17	29654862	29654862	G	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.5812+4A>T	NF1	Pathogenic	17	29657520	29657520	A	T	criteria provided, single submitter	-
Deletion	NM_000267.3(NF1):c.7128delG	NF1	Pathogenic	17	29676137	29676137	AG	A	criteria provided, single submitter	-
Duplication	NM_001042492.3(NF1):c.7970+2dup	NF1	Likely pathogenic	17	29684388	29684389	G	GT	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31229825)_(31265349_?)del	NF1	Pathogenic	17	29556843	29592367	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.60+1G>C	NF1	Pathogenic/Likely pathogenic	17	29422388	29422388	G	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_000267.3(NF1):c.480delG	NF1	Pathogenic	17	29496908	29496908	AG	A	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1062+1G>A	NF1	Pathogenic/Likely pathogenic	17	29527614	29527614	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.3709-2A>T	NF1	Pathogenic	17	29562627	29562627	A	T	criteria provided, single submitter	-

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