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) | ||||||||||
| Duplication | NM_000059.4(BRCA2):c.6437_6440dup (p.His2147fs) | BRCA2 | Likely pathogenic | 13 | 32914927 | 32914928 | T | TAATC | criteria provided, single submitter | ClinGen:CA658683805 |
| Deletion | NM_007294.4(BRCA1):c.4211del (p.Leu1404fs) | BRCA1 | Likely pathogenic | 17 | 41234567 | 41234567 | CA | C | criteria provided, single submitter | ClinGen:CA658684087 |
| Duplication | NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32953565 | 32953566 | G | GA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683851 |
| Deletion | NM_007294.4(BRCA1):c.754del (p.Arg252fs) | BRCA1 | Pathogenic | 17 | 41246794 | 41246794 | CG | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658684122 |
| Deletion | NM_000059.4(BRCA2):c.9254del (p.Thr3085fs) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32954280 | 32954280 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683861 |
| Deletion | NM_007294.4(BRCA1):c.1825_1829del (p.Asn609fs) | BRCA1 | Likely pathogenic | 17 | 41245719 | 41245723 | CCTATT | C | criteria provided, single submitter | ClinGen:CA658684109 |
| Indel | NM_007294.4(BRCA1):c.942_956delinsCTTACTTC (p.Arg315fs) | BRCA1 | Likely pathogenic | 17 | 41246592 | 41246606 | TTATGTTGGCTCCTT | GAAGTAAG | criteria provided, single submitter | ClinGen:CA658684120 |
| Duplication | NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41228592 | 41228593 | C | CT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658684036 |
| Duplication | NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41244072 | 41244073 | A | AT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658684114 |
| single nucleotide variant | NM_007294.4(BRCA1):c.614T>G (p.Leu205Ter) | BRCA1 | Likely pathogenic | 17 | 41247919 | 41247919 | A | C | criteria provided, single submitter | ClinGen:CA10600875 |
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