バート・ホッグ・デュベ症候群 - MGenReviews

バート・ホッグ・デュベ症候群

腫瘍性疾患

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.(?_17223916)_(17224149_?)del	FLCN	Likely pathogenic	17	17127230	17127463	na	na	criteria provided, single submitter	-
Deletion	NC_000017.11:g.(?_17236912)_(17237188_?)del	FLCN	Pathogenic	17	17140226	17140502	na	na	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.1451del (p.Asn484fs)	FLCN	Pathogenic	17	17118386	17118386	AT	A	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.365_372del (p.Arg122fs)	FLCN	Pathogenic	17	17129514	17129521	AGGCCTGGC	A	criteria provided, single submitter	-
single nucleotide variant	NM_144997.7(FLCN):c.121C>T (p.Gln41Ter)	FLCN	Pathogenic	17	17131331	17131331	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_144997.7(FLCN):c.887C>G (p.Ser296Ter)	FLCN	Pathogenic	17	17122508	17122508	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_144997.7(FLCN):c.510C>A (p.Tyr170Ter)	FLCN	Pathogenic	17	17127344	17127344	G	T	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.804del (p.Arg268_Leu269insTer)	FLCN	Pathogenic	17	17124918	17124918	GC	G	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.1188del (p.Val397fs)	FLCN	Pathogenic	17	17119806	17119806	CG	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_144997.7(FLCN):c.872-1G>T	FLCN	Likely pathogenic	17	17122524	17122524	C	A	criteria provided, multiple submitters, no conflicts	-

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