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.524A>G (p.Tyr175Cys) | VHL | Pathogenic/Likely pathogenic | 3 | 10191531 | 10191531 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020462 |
| single nucleotide variant | NM_000551.4(VHL):c.194C>G (p.Ser65Trp) | VHL | Pathogenic | 3 | 10183725 | 10183725 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020099,UniProtKB:P40337#VAR_005673 |
| single nucleotide variant | NM_000551.4(VHL):c.208G>A (p.Glu70Lys) | VHL | Pathogenic/Likely pathogenic | 3 | 10183739 | 10183739 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA020108,UniProtKB:P40337#VAR_005676 |
| single nucleotide variant | NM_000551.4(VHL):c.319C>G (p.Arg107Gly) | VHL | Pathogenic/Likely pathogenic | 3 | 10183850 | 10183850 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020257,UniProtKB:P40337#VAR_034991 |
| single nucleotide variant | NM_000551.4(VHL):c.467A>G (p.Tyr156Cys) | VHL | Pathogenic | 3 | 10191474 | 10191474 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020394,UniProtKB:P40337#VAR_005743 |
| Deletion | NM_000551.4(VHL):c.408del (p.Phe136fs) | VHL | Pathogenic | 3 | 10188263 | 10188263 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA020343 |
| single nucleotide variant | NM_000551.4(VHL):c.464-1G>A | VHL | Pathogenic | 3 | 10191470 | 10191470 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA020389 |
| single nucleotide variant | NM_000551.4(VHL):c.485G>T (p.Cys162Phe) | VHL | Pathogenic | 3 | 10191492 | 10191492 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA020418,UniProtKB:P40337#VAR_005754 |
| single nucleotide variant | NM_000551.4(VHL):c.497T>C (p.Val166Ala) | VHL | Pathogenic/Likely pathogenic | 3 | 10191504 | 10191504 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA020442 |
| single nucleotide variant | NM_000551.4(VHL):c.233A>G (p.Asn78Ser) | VHL | Pathogenic | 3 | 10183764 | 10183764 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA020131,UniProtKB:P40337#VAR_005683 |
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