Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
家族性膵がん
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_000059.4(BRCA2):c.6141T>G (p.Tyr2047Ter) | BRCA2 | Pathogenic | 13 | 32914633 | 32914633 | T | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_000059.4(BRCA2):c.6500T>G (p.Leu2167Ter) | BRCA2 | Pathogenic | 13 | 32914992 | 32914992 | T | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_000059.4(BRCA2):c.6800C>G (p.Ser2267Ter) | BRCA2 | Pathogenic | 13 | 32915292 | 32915292 | C | G | criteria provided, single submitter | - |
| Deletion | NM_000059.4(BRCA2):c.6884_6888del (p.Arg2295fs) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32918736 | 32918740 | CAGGAT | C | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_000059.4(BRCA2):c.7628_7629del (p.Tyr2543fs) | BRCA2 | Likely pathogenic | 13 | 32931888 | 32931889 | GTA | G | criteria provided, single submitter | - |
| single nucleotide variant | NM_000059.4(BRCA2):c.8562T>G (p.Tyr2854Ter) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32945167 | 32945167 | T | G | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_024675.4(PALB2):c.1551_1552del (p.Lys517fs) | PALB2 | Pathogenic | 16 | 23646315 | 23646316 | GAT | G | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_024675.4(PALB2):c.613G>T (p.Glu205Ter) | PALB2 | Likely pathogenic | 16 | 23647254 | 23647254 | C | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_007294.4(BRCA1):c.3791del (p.Lys1264fs) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41243757 | 41243757 | CT | C | criteria provided, multiple submitters, no conflicts | - |
| Duplication | NM_007294.4(BRCA1):c.3337dup (p.Tyr1113fs) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41244210 | 41244211 | T | TA | criteria provided, multiple submitters, no conflicts | - |
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