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
Insertion	NM_144997.7(FLCN):c.1579_1580insA (p.Arg527fs)	FLCN	Pathogenic	17	17117129	17117130	C	CT	criteria provided, multiple submitters, no conflicts	ClinGen:CA8415933
single nucleotide variant	NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)	FLCN	Pathogenic/Likely pathogenic	17	17117130	17117130	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586246
single nucleotide variant	NM_144997.7(FLCN):c.1532G>A (p.Trp511Ter)	FLCN	Pathogenic	17	17118305	17118305	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586247
Deletion	NM_144997.7(FLCN):c.1528del (p.Glu510fs)	FLCN	Pathogenic	17	17118309	17118309	TC	T	criteria provided, single submitter	ClinGen:CA10586249
single nucleotide variant	NM_144997.7(FLCN):c.1432+1G>A	FLCN	Pathogenic	17	17118498	17118498	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586251
single nucleotide variant	NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)	FLCN	Pathogenic	17	17118502	17118502	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586252
single nucleotide variant	NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter)	FLCN	Pathogenic/Likely pathogenic	17	17118542	17118542	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586253
Duplication	NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs)	FLCN	Pathogenic	17	17118596	17118597	T	TGCGGCTGCGTGGACCTC	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586254
single nucleotide variant	NM_144997.7(FLCN):c.1300+1G>A	FLCN	Pathogenic/Likely pathogenic	17	17119693	17119693	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586255
Duplication	NM_144997.7(FLCN):c.1286dup (p.His429fs)	FLCN	Pathogenic	17	17119707	17119708	G	GT	criteria provided, multiple submitters, no conflicts	ClinGen:CA10586256

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