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

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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.257C>T (p.Pro86Leu)	VHL	Pathogenic	3	10183788	10183788	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA020186,UniProtKB:P40337#VAR_005694
single nucleotide variant	NM_000551.4(VHL):c.263G>A (p.Trp88Ter)	VHL	Pathogenic	3	10183794	10183794	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020197
single nucleotide variant	NM_000551.4(VHL):c.266T>C (p.Leu89Pro)	VHL	Pathogenic/Likely pathogenic	3	10183797	10183797	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020207,UniProtKB:P40337#VAR_005700
single nucleotide variant	NM_000551.4(VHL):c.340+1G>C	VHL	Pathogenic/Likely pathogenic	3	10183872	10183872	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020282
single nucleotide variant	NM_000551.4(VHL):c.473T>C (p.Leu158Pro)	VHL	Pathogenic	3	10191480	10191480	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020399,UniProtKB:P40337#VAR_005748
Deletion	NM_000551.4(VHL):c.477del (p.Glu160fs)	VHL	Pathogenic	3	10191482	10191482	GA	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020404
single nucleotide variant	NM_000551.4(VHL):c.482G>A (p.Arg161Gln)	VHL	Pathogenic	3	10191489	10191489	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA020413,UniProtKB:P40337#VAR_005751
single nucleotide variant	NM_000551.4(VHL):c.525C>G (p.Tyr175Ter)	VHL	Pathogenic	3	10191532	10191532	C	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020466
single nucleotide variant	NM_000551.4(VHL):c.238A>G (p.Ser80Gly)	VHL	Pathogenic/Likely pathogenic	3	10183769	10183769	A	G	criteria provided, multiple submitters, no conflicts	ClinGen:CA020142
single nucleotide variant	NM_000551.4(VHL):c.245G>C (p.Arg82Pro)	VHL	Pathogenic	3	10183776	10183776	G	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA020159,UniProtKB:P40337#VAR_005690

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