フォン・ヒッペル・リンドウ病 - MGenReviews

フォン・ヒッペル・リンドウ病

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
single nucleotide variant	NM_000551.4(VHL):c.551T>C (p.Leu184Pro)	VHL	Pathogenic/Likely pathogenic	3	10191558	10191558	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA16617792
Deletion	NM_000551.4(VHL):c.163del (p.Glu55fs)	VHL	Pathogenic	3	10183693	10183693	TG	T	criteria provided, single submitter	ClinGen:CA432536363
single nucleotide variant	NM_000551.4(VHL):c.208G>T (p.Glu70Ter)	VHL	Pathogenic	3	10183739	10183739	G	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA16602179
Duplication	NM_000551.4(VHL):c.263_265dup (p.Trp88_Leu89insArg)	VHL	Likely pathogenic	3	10183793	10183794	T	TGGC	criteria provided, single submitter	ClinGen:CA645369327
Deletion	NM_000551.4(VHL):c.278del (p.Gly93fs)	VHL	Pathogenic	3	10183808	10183808	CG	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA432420500
single nucleotide variant	NM_000551.4(VHL):c.286C>T (p.Gln96Ter)	VHL	Pathogenic	3	10183817	10183817	C	T	criteria provided, single submitter	ClinGen:CA351750811
single nucleotide variant	NM_000551.4(VHL):c.353T>C (p.Leu118Pro)	VHL	Pathogenic	3	10188210	10188210	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA70049399
single nucleotide variant	NM_000551.4(VHL):c.353T>G (p.Leu118Arg)	VHL	Pathogenic	3	10188210	10188210	T	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA351753694
Deletion	NM_000551.4(VHL):c.358del (p.Arg120fs)	VHL	Pathogenic	3	10188215	10188215	CA	C	criteria provided, single submitter	ClinGen:CA645369329
single nucleotide variant	NM_000551.4(VHL):c.397A>C (p.Thr133Pro)	VHL	Likely pathogenic	3	10188254	10188254	A	C	criteria provided, single submitter	ClinGen:CA351753973

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