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.1124_1139del (p.Ile375fs)	FLCN	Pathogenic	17	17120420	17120435	GTCTCTGCTTTTCCAGA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586258
single nucleotide variant	NM_144997.7(FLCN):c.1098G>A (p.Trp366Ter)	FLCN	Pathogenic	17	17120461	17120461	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586259
Deletion	NM_144997.7(FLCN):c.1036_1043del (p.Phe346fs)	FLCN	Pathogenic	17	17122352	17122359	GGACTTGAA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586261
Duplication	NM_144997.7(FLCN):c.927dup (p.Ala310fs)	FLCN	Pathogenic	17	17122467	17122468	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586262
single nucleotide variant	NM_144997.7(FLCN):c.875T>G (p.Leu292Ter)	FLCN	Pathogenic	17	17122520	17122520	A	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586263
single nucleotide variant	NM_144997.7(FLCN):c.853C>T (p.Gln285Ter)	FLCN	Pathogenic	17	17124869	17124869	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586264
Deletion	NM_144997.7(FLCN):c.851del (p.Val284fs)	FLCN	Pathogenic	17	17124871	17124871	GA	G	criteria provided, single submitter	ClinGen:CA10586265
single nucleotide variant	NM_144997.7(FLCN):c.752G>A (p.Trp251Ter)	FLCN	Pathogenic	17	17125842	17125842	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586268
Deletion	NM_144997.7(FLCN):c.735_738del (p.Ser246fs)	FLCN	Pathogenic	17	17125856	17125859	CACTT	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586269
single nucleotide variant	NM_144997.7(FLCN):c.634C>T (p.Gln212Ter)	FLCN	Pathogenic	17	17125960	17125960	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586270

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