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	NM_144997.7(FLCN):c.792del (p.Cys265fs)	FLCN	Pathogenic/Likely pathogenic	17	17124930	17124930	AC	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_144997.7(FLCN):c.1432+2T>C	FLCN	Likely pathogenic	17	17118497	17118497	A	G	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.1607_1622del (p.Leu536fs)	FLCN	Pathogenic	17	17117087	17117102	CGCACCCAGGATGCTCA	C	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_144997.7(FLCN):c.1440del (p.Thr481fs)	FLCN	Pathogenic	17	17118397	17118397	TG	T	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.1326del (p.His442fs)	FLCN	Pathogenic	17	17118605	17118605	CG	C	criteria provided, single submitter	-
Deletion	NM_144997.7(FLCN):c.889_890del (p.Glu297fs)	FLCN	Pathogenic	17	17122505	17122506	TTC	T	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_144997.7(FLCN):c.563del (p.Phe188fs)	FLCN	Pathogenic	17	17127291	17127291	GA	G	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_144997.7(FLCN):c.312del (p.Lys105fs)	FLCN	Pathogenic	17	17129574	17129574	TA	T	criteria provided, single submitter	-
Duplication	NM_144997.7(FLCN):c.237_240dup (p.Met81fs)	FLCN	Pathogenic	17	17131211	17131212	T	TGTCC	criteria provided, multiple submitters, no conflicts	-
Deletion	NM_144997.7(FLCN):c.167del (p.Ser56fs)	FLCN	Pathogenic	17	17131285	17131285	AC	A	criteria provided, single submitter	-

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