Knowledge base for genomic medicine in Japanese
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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.5025T>A (p.Cys1675Ter) | BRCA2 | Pathogenic | 13 | 32913517 | 32913517 | T | A | criteria provided, single submitter | ClinGen:CA387783971 |
| Deletion | NM_000059.4(BRCA2):c.8724del (p.Lys2909fs) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32950898 | 32950898 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656394 |
| single nucleotide variant | NM_000059.4(BRCA2):c.5909C>G (p.Ser1970Ter) | BRCA2 | Pathogenic | 13 | 32914401 | 32914401 | C | G | criteria provided, single submitter | ClinGen:CA387787511 |
| single nucleotide variant | NM_000059.4(BRCA2):c.9005A>G (p.Glu3002Gly) | BRCA2 | Likely pathogenic | 13 | 32953938 | 32953938 | A | G | criteria provided, single submitter | ClinGen:CA387757453 |
| Duplication | NM_000059.4(BRCA2):c.9212dup (p.Val3072fs) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32954237 | 32954238 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656438 |
| Deletion | NM_000059.4(BRCA2):c.6187_6197del (p.Gly2063fs) | BRCA2 | Pathogenic | 13 | 32914672 | 32914682 | CAGCAAGTGGAA | C | criteria provided, single submitter | ClinGen:CA658656418 |
| single nucleotide variant | NM_000059.4(BRCA2):c.6223A>T (p.Lys2075Ter) | BRCA2 | Pathogenic | 13 | 32914715 | 32914715 | A | T | criteria provided, single submitter | ClinGen:CA387788877 |
| single nucleotide variant | NM_000059.4(BRCA2):c.9310A>T (p.Lys3104Ter) | BRCA2 | Pathogenic | 13 | 32968879 | 32968879 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA387760919 |
| Duplication | NM_000059.4(BRCA2):c.6327dup (p.Asp2110Ter) | BRCA2 | Pathogenic | 13 | 32914817 | 32914818 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656328 |
| Indel | NM_000059.4(BRCA2):c.6336_6340delinsTTT (p.Arg2112fs) | BRCA2 | Pathogenic | 13 | 32914828 | 32914832 | AAACC | TTT | criteria provided, single submitter | ClinGen:CA658656329 |
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