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) | ||||||||||
| Indel | NM_007294.4(BRCA1):c.5194-1_5197delinsTATT | BRCA1 | Pathogenic | 17 | 41209149 | 41209153 | CATGC | AATA | criteria provided, single submitter | ClinGen:CA658656666 |
| Deletion | NM_007294.4(BRCA1):c.3825del (p.Leu1276fs) | BRCA1 | Pathogenic | 17 | 41243723 | 41243723 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656677 |
| Insertion | NM_007294.4(BRCA1):c.3543_3544insGA (p.Gln1182fs) | BRCA1 | Pathogenic | 17 | 41244004 | 41244005 | G | GTC | criteria provided, single submitter | ClinGen:CA658656689 |
| Deletion | NM_007294.4(BRCA1):c.3401_3405del (p.Glu1134fs) | BRCA1 | Pathogenic | 17 | 41244143 | 41244147 | GCTGTT | G | criteria provided, single submitter | ClinGen:CA658656692 |
| Deletion | NM_007294.4(BRCA1):c.3117del (p.Ser1040fs) | BRCA1 | Pathogenic | 17 | 41244431 | 41244431 | TG | T | criteria provided, single submitter | ClinGen:CA658656626 |
| single nucleotide variant | NM_007294.4(BRCA1):c.547+1G>C | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41251791 | 41251791 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA10601039 |
| Deletion | NM_007294.4(BRCA1):c.105_134+1007del | BRCA1 | Pathogenic | 17 | 41266736 | 41267772 | TTTACCAAGTACATAGTTTGTACCTGGTACCAGGTTATGTACCAGGTACATAAATACTTAAAAACAAATTAGTTGACATTTAAGGTAAGATGTGAGCCATAGCTTAACATAAAGAAAAGGAGAAAGCCCACTTGTTCTACTAAATTACCTACTCTACTTTTTCTGAAATTCTTTTATTAAGAAACAAACATTTTCATTTCAAAAGACAAGATCATCAAATACGTAAATATAACTTGAATCACTGCTATAAATGAATTTTGGCCTAAATAGAAACTGGTATCAGGTCCTTTCCTGTCTTCACAATGATTACAAAGCGGGCAAACACTGACCCTTAGAAGGGGGAATGCATAAGGATATGCAGAAATGAACAGAAAGGAGAAACTGGGAAGGCTCAAACACAATGTGCTTATTTCAAAACTGCTTGCAGTTTGCTTTCACTGATGGACACAAAAAATACAAAACACTGTTCAAAATGATGTTACATCCTAATAGATAATATATGTCAGTCGGGTGTGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCAGGTGGATCACAAGGTCAGGAGTTCGAGACCAGCCTGGCCAATATGGTGAAACCTTATCTCTACTAAAAGTACAAAAATTAGCCAAGCATGGTGGCGGGTGCCTGTAGTCCCAGCTACCTGGGAGGCTGAGGTAGAAGAATCGCTTGAACTCGGGGGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGATAATATATGTCAAAACTTTACCAGGAACTATGATTACAACCAACTTTTGATAACTATATACTCTCTGAGAAAGAATGAAATGGAGTTGGATTTTTCGTTCTCACTTAATTGAAGAAAGTAAAGCTTCTATAAAGTTAGGTGTTTCCTGGGTTATGAAGGACAAAAACAAAAGCTAATAATGGAGCCACATAACACATTCAAACTTACTTGCAAAATATGTGGTCACACTTTGTGGAG | T | criteria provided, single submitter | ClinGen:CA658656684 |
| Deletion | NC_000017.11:g.(?_43057046)_(43057141_?)del | BRCA1 | Pathogenic | 17 | 41209063 | 41209158 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000017.10:g.(?_41209063)_(41209158_?)dup | BRCA1 | Likely pathogenic | 17 | 41209063 | 41209158 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_43104116)_(43124102_?)del | BRCA1 | Pathogenic | 17 | 41256133 | 41276119 | na | na | criteria provided, single submitter | - |
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