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_024675.4(PALB2):c.1546dup (p.Arg516fs) | PALB2 | Pathogenic | 16 | 23646320 | 23646321 | C | CT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683909 |
| Deletion | NM_024675.4(PALB2):c.1437_1438del (p.Lys480fs) | PALB2 | Pathogenic | 16 | 23646429 | 23646430 | TTC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683910 |
| single nucleotide variant | NM_000059.4(BRCA2):c.8029G>T (p.Glu2677Ter) | BRCA2 | Pathogenic | 13 | 32937368 | 32937368 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA387748934 |
| Deletion | NM_024675.4(PALB2):c.546del (p.Ser183fs) | PALB2 | Pathogenic | 16 | 23647321 | 23647321 | TG | T | criteria provided, single submitter | ClinGen:CA658683923 |
| single nucleotide variant | NM_024675.4(PALB2):c.211+1G>A | PALB2 | Likely pathogenic | 16 | 23649170 | 23649170 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA395139005 |
| Deletion | NM_000059.4(BRCA2):c.3270del (p.Met1090fs) | BRCA2 | Pathogenic | 13 | 32911762 | 32911762 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683859 |
| Indel | NM_000059.3(BRCA2):c.3761_3764delinsTTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA (p.Glu1254fs) | BRCA2 | Pathogenic | 13 | 32912253 | 32912256 | AGGT | TTTATCTTCAAGTAAGTTTATCTTCAAGTAAATATCTTCAAGTAA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683870 |
| Deletion | NM_000059.4(BRCA2):c.3940_3941del (p.Lys1314fs) | BRCA2 | Pathogenic | 13 | 32912432 | 32912433 | CAA | C | criteria provided, single submitter | ClinGen:CA658683802 |
| single nucleotide variant | NM_000059.4(BRCA2):c.9454G>T (p.Glu3152Ter) | BRCA2 | Pathogenic | 13 | 32969023 | 32969023 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA387761663 |
| Duplication | NM_000059.4(BRCA2):c.9810dup (p.Asp3272fs) | BRCA2 | Pathogenic | 13 | 32972458 | 32972459 | G | GC | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683837 |
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