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.189del (p.Ala64fs)	FLCN	Pathogenic/Likely pathogenic	17	17131263	17131263	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580174
Deletion	NM_144997.7(FLCN):c.59del (p.Phe20fs)	FLCN	Pathogenic	17	17131393	17131393	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10580178
single nucleotide variant	NM_144997.7(FLCN):c.1539-2A>G	FLCN	Pathogenic/Likely pathogenic	17	17117172	17117172	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583451
Deletion	NM_144997.7(FLCN):c.1219del (p.Ser407fs)	FLCN	Pathogenic	17	17119775	17119775	CT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583452
Deletion	NM_144997.7(FLCN):c.987del (p.Ser330fs)	FLCN	Pathogenic	17	17122408	17122408	AG	A	criteria provided, single submitter	ClinGen:CA10583453
Indel	NM_144997.7(FLCN):c.828delinsAGA (p.Ala277fs)	FLCN	Pathogenic	17	17124894	17124894	A	TCT	criteria provided, single submitter	ClinGen:CA10583454
single nucleotide variant	NM_144997.7(FLCN):c.780-1G>C	FLCN	Pathogenic	17	17124943	17124943	C	G	criteria provided, single submitter	ClinGen:CA10583455
Deletion	NM_144997.7(FLCN):c.584del (p.Gly195fs)	FLCN	Pathogenic	17	17127270	17127270	TC	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583457
Duplication	NM_144997.7(FLCN):c.347dup (p.Leu117fs)	FLCN	Pathogenic	17	17129538	17129539	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA8416448
Deletion	NM_144997.7(FLCN):c.113del (p.Ser38fs)	FLCN	Pathogenic	17	17131339	17131339	AC	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10583459

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