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
Deletion	NC_000017.11:g.(?_31169871)_(31343155_?)del	NF1	Pathogenic	17	29496889	29670173	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_31334559)_(31359035_?)del	NF1	Pathogenic	17	29661577	29686053	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.58C>T (p.Gln20Ter)	NF1	Pathogenic/Likely pathogenic	17	29422385	29422385	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.882_885del (p.Met294fs)	NF1	Pathogenic	17	29509675	29509678	CATGA	C	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1185G>A (p.Lys395=)	NF1	Likely pathogenic	17	29528177	29528177	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1238C>G (p.Ser413Ter)	NF1	Pathogenic	17	29528481	29528481	C	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.1331del (p.Gly444fs)	NF1	Pathogenic	17	29533327	29533327	TG	T	criteria provided, single submitter	-
single nucleotide variant	NM_001042492.3(NF1):c.1393-1G>A	NF1	Pathogenic	17	29541468	29541468	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_001042492.3(NF1):c.1603C>T (p.Gln535Ter)	NF1	Pathogenic	17	29546098	29546098	C	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_001042492.3(NF1):c.1815del (p.Cys606fs)	NF1	Pathogenic	17	29550555	29550555	TC	T	criteria provided, single submitter	-

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