Knowledge base for genomic medicine in Japanese
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フォン・ヒッペル・リンドウ病
腫瘍性疾患
Excelでダウンロード最新の情報は下記 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 |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| single nucleotide variant | NM_000551.4(VHL):c.355T>C (p.Phe119Leu) | VHL | Pathogenic | 3 | 10188212 | 10188212 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA351753707 |
| single nucleotide variant | NM_000551.4(VHL):c.238A>C (p.Ser80Arg) | VHL | Pathogenic | 3 | 10183769 | 10183769 | A | C | criteria provided, single submitter | ClinGen:CA16621913 |
| single nucleotide variant | NM_000551.4(VHL):c.262T>C (p.Trp88Arg) | VHL | Pathogenic | 3 | 10183793 | 10183793 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA351750667 |
| single nucleotide variant | NM_000551.4(VHL):c.392A>G (p.Asn131Ser) | VHL | Pathogenic/Likely pathogenic | 3 | 10188249 | 10188249 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA351753941 |
| single nucleotide variant | NM_000551.4(VHL):c.484T>C (p.Cys162Arg) | VHL | Pathogenic | 3 | 10191491 | 10191491 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA351756117 |
| single nucleotide variant | NM_000551.4(VHL):c.345C>A (p.His115Gln) | VHL | Pathogenic/Likely pathogenic | 3 | 10188202 | 10188202 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA351753631 |
| single nucleotide variant | NM_000551.4(VHL):c.407T>C (p.Phe136Ser) | VHL | Pathogenic/Likely pathogenic | 3 | 10188264 | 10188264 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA040847 |
| single nucleotide variant | NM_000551.4(VHL):c.500G>T (p.Arg167Leu) | VHL | Pathogenic | 3 | 10191507 | 10191507 | G | T | criteria provided, single submitter | ClinGen:CA351756178 |
| single nucleotide variant | NM_000551.4(VHL):c.245G>T (p.Arg82Leu) | VHL | Pathogenic/Likely pathogenic | 3 | 10183776 | 10183776 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA351750555 |
| single nucleotide variant | NM_000551.4(VHL):c.460C>G (p.Pro154Ala) | VHL | Likely pathogenic | 3 | 10188317 | 10188317 | C | G | criteria provided, single submitter | ClinGen:CA351754403 |
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