Knowledge base for genomic medicine in Japanese
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遺伝性乳がん・卵巣がん症候群
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.8029G>T (p.Glu2677Ter) | BRCA2 | Pathogenic | 13 | 32937368 | 32937368 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA387748934 |
| 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 |
| single nucleotide variant | NM_000059.4(BRCA2):c.5054C>G (p.Ser1685Ter) | BRCA2 | Pathogenic | 13 | 32913546 | 32913546 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA387784027 |
| Duplication | NM_002878.4(RAD51D):c.641dup (p.Leu215fs) | RAD51D | Likely pathogenic | 17 | 33430498 | 33430499 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA625782483 |
| Indel | NM_000059.4(BRCA2):c.3165_3167delinsCC (p.Lys1057fs) | BRCA2 | Pathogenic | 13 | 32911657 | 32911659 | TCA | CC | criteria provided, single submitter | ClinGen:CA658683858 |
| Deletion | NM_000059.4(BRCA2):c.3452_3455del (p.Ile1151fs) | BRCA2 | Pathogenic | 13 | 32911944 | 32911947 | ATCTT | A | criteria provided, single submitter | ClinGen:CA658683864 |
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