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.4441G>T (p.Glu1481Ter) | BRCA2 | Pathogenic | 13 | 32912933 | 32912933 | G | T | criteria provided, single submitter | ClinGen:CA387781338 |
| Deletion | NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs) | PALB2 | Pathogenic | 16 | 23646724 | 23646727 | TAAGA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA621661731 |
| Duplication | NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs) | PALB2 | Pathogenic | 16 | 23646833 | 23646834 | A | AAG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683915 |
| Deletion | NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32929176 | 32929177 | CTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683838 |
| Deletion | NM_000059.4(BRCA2):c.7579del (p.Ala2526_Val2527insTer) | BRCA2 | Pathogenic | 13 | 32930708 | 32930708 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683852 |
| Insertion | NM_000059.4(BRCA2):c.8744_8745insCTTA (p.Tyr2916fs) | BRCA2 | Pathogenic | 13 | 32950918 | 32950919 | C | CCTTA | criteria provided, single submitter | ClinGen:CA658683846 |
| single nucleotide variant | NM_000059.4(BRCA2):c.9018C>G (p.Tyr3006Ter) | BRCA2 | Pathogenic | 13 | 32953951 | 32953951 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA387757478 |
| Deletion | NM_007294.4(BRCA1):c.1416del (p.Asn473fs) | BRCA1 | Pathogenic | 17 | 41246132 | 41246132 | TG | T | criteria provided, single submitter | ClinGen:CA658684118 |
| Indel | NM_007294.4(BRCA1):c.81-5_81-1delinsACCTTGA | BRCA1 | Pathogenic | 17 | 41267797 | 41267801 | CTAGC | TCAAGGT | criteria provided, single submitter | ClinGen:CA658684101 |
| Deletion | NM_024675.4(PALB2):c.3228del (p.Cys1078fs) | PALB2 | Pathogenic | 16 | 23619307 | 23619307 | GA | G | criteria provided, single submitter | ClinGen:CA658683911 |
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