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) | ||||||||||
| Deletion | NC_000017.11:g.(?_43047637)_(43099886_?)del | BRCA1 | Pathogenic | 17 | 41199654 | 41251903 | na | na | criteria provided, single submitter | - |
| Deletion | NM_024675.4(PALB2):c.1490del (p.Asn497fs) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23646377 | 23646377 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658421 |
| Deletion | NC_000017.11:g.(?_43106450)_(43106539_?)del | BRCA1 | Likely pathogenic | 17 | 41258467 | 41258556 | na | na | criteria provided, single submitter | - |
| Duplication | NM_024675.4(PALB2):c.442_457dup (p.Arg153fs) | PALB2 | Pathogenic | 16 | 23647409 | 23647410 | C | CTCTTCTGCTGCTTCTT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658445 |
| Deletion | NM_024675.4(PALB2):c.2915del (p.Leu972fs) | PALB2 | Pathogenic | 16 | 23634371 | 23634371 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658397 |
| single nucleotide variant | NM_024675.4(PALB2):c.1702C>T (p.Gln568Ter) | PALB2 | Pathogenic | 16 | 23641773 | 23641773 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA395128442 |
| Duplication | NM_024675.4(PALB2):c.801_802dup (p.Lys268fs) | PALB2 | Pathogenic/Likely pathogenic | 16 | 23647064 | 23647065 | T | TTA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658658440 |
| Deletion | NM_024675.4(PALB2):c.514_517del (p.Ser172fs) | PALB2 | Pathogenic | 16 | 23647350 | 23647353 | CCAGA | C | reviewed by expert panel | ClinGen:CA658658444 |
| Indel | NM_007294.4(BRCA1):c.5365_5366delinsA (p.Ala1789fs) | BRCA1 | Pathogenic | 17 | 41201178 | 41201179 | GC | T | criteria provided, single submitter | ClinGen:CA658656643 |
| single nucleotide variant | NM_007294.4(BRCA1):c.5277+1G>T | BRCA1 | Pathogenic | 17 | 41209068 | 41209068 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10590997 |
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