Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
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.3385C>T (p.Gln1129Ter) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32911877 | 32911877 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA387776436 |
| Duplication | NM_000059.4(BRCA2):c.3454_3455dup (p.Leu1152fs) | BRCA2 | Pathogenic | 13 | 32911945 | 32911946 | C | CTT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656410 |
| Deletion | NM_000059.4(BRCA2):c.3811del (p.Ser1271fs) | BRCA2 | Pathogenic | 13 | 32912301 | 32912301 | GT | G | criteria provided, single submitter | ClinGen:CA658656322 |
| Duplication | NM_000059.4(BRCA2):c.7dup (p.Ile3fs) | BRCA2 | Pathogenic | 13 | 32890603 | 32890604 | T | TA | criteria provided, single submitter | ClinGen:CA658656319 |
| Indel | NM_000059.4(BRCA2):c.32_33delinsA (p.Phe11fs) | BRCA2 | Pathogenic | 13 | 32890629 | 32890630 | TT | A | criteria provided, single submitter | ClinGen:CA658656321 |
| single nucleotide variant | NM_000059.4(BRCA2):c.793+1G>C | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32905168 | 32905168 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA387760275 |
| Deletion | NM_000059.4(BRCA2):c.1844del (p.Asn615fs) | BRCA2 | Pathogenic | 13 | 32907458 | 32907458 | TA | T | criteria provided, single submitter | ClinGen:CA658656344 |
| Deletion | NM_000059.4(BRCA2):c.2105_2106del (p.Ile702fs) | BRCA2 | Pathogenic | 13 | 32910597 | 32910598 | ATT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656357 |
| Deletion | NM_000059.4(BRCA2):c.6085del (p.Glu2029fs) | BRCA2 | Pathogenic | 13 | 32914577 | 32914577 | AG | A | criteria provided, single submitter | ClinGen:CA658656413 |
| single nucleotide variant | NM_000059.4(BRCA2):c.2244C>G (p.Tyr748Ter) | BRCA2 | Pathogenic | 13 | 32910736 | 32910736 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA387770853 |
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