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.430G>T (p.Gly144Ter)	VHL	Pathogenic	3	10188287	10188287	G	T	criteria provided, single submitter	ClinGen:CA357109
Deletion	NM_000551.4(VHL):c.435_436del (p.Gln145fs)	VHL	Pathogenic	3	10188292	10188293	AGC	A	criteria provided, single submitter	ClinGen:CA357041
Deletion	NM_000551.4(VHL):c.444del (p.Phe148fs)	VHL	Pathogenic	3	10188297	10188297	AT	A	criteria provided, single submitter	ClinGen:CA357018
single nucleotide variant	NM_000551.4(VHL):c.445G>A (p.Ala149Thr)	VHL	Pathogenic	3	10188302	10188302	G	A	criteria provided, single submitter	ClinGen:CA357066,UniProtKB:P40337#VAR_005740
single nucleotide variant	NM_000551.4(VHL):c.445G>C (p.Ala149Pro)	VHL	Pathogenic	3	10188302	10188302	G	C	criteria provided, single submitter	ClinGen:CA357120
single nucleotide variant	NM_000551.4(VHL):c.463G>A (p.Val155Met)	VHL	Pathogenic	3	10188320	10188320	G	A	criteria provided, single submitter	ClinGen:CA357026
single nucleotide variant	NM_000551.4(VHL):c.464-2A>G	VHL	Pathogenic	3	10191469	10191469	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA357046
single nucleotide variant	NM_000551.4(VHL):c.464-1G>C	VHL	Pathogenic	3	10191470	10191470	G	C	criteria provided, single submitter	ClinGen:CA357081
single nucleotide variant	NM_000551.4(VHL):c.464-1G>T	VHL	Pathogenic	3	10191470	10191470	G	T	criteria provided, single submitter	ClinGen:CA357144
single nucleotide variant	NM_000551.4(VHL):c.470C>T (p.Thr157Ile)	VHL	Pathogenic	3	10191477	10191477	C	T	criteria provided, single submitter	ClinGen:CA357133,UniProtKB:P40337#VAR_005746

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