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) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.379del (p.Ser127fs) | BRCA1 | Likely pathogenic | 17 | 41256201 | 41256201 | CT | C | criteria provided, single submitter | ClinGen:CA658684055 |
| single nucleotide variant | NM_000059.4(BRCA2):c.516+2T>G | BRCA2 | Pathogenic | 13 | 32900421 | 32900421 | T | G | criteria provided, single submitter | ClinGen:CA387757755 |
| single nucleotide variant | NM_000059.4(BRCA2):c.9649-1G>T | BRCA2 | Pathogenic | 13 | 32972298 | 32972298 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA387765053 |
| Insertion | NM_000059.4(BRCA2):c.6261_6262insGT (p.Thr2088fs) | BRCA2 | Pathogenic | 13 | 32914753 | 32914754 | A | AGT | criteria provided, single submitter | ClinGen:CA658798130 |
| Deletion | NM_007294.4(BRCA1):c.1568del (p.Leu523fs) | BRCA1 | Pathogenic | 17 | 41245980 | 41245980 | CA | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658798842 |
| single nucleotide variant | NM_000077.5(CDKN2A):c.159G>A (p.Met53Ile) | CDKN2A | Pathogenic/Likely pathogenic | 9 | 21971199 | 21971199 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA190730408 |
| Deletion | NC_000013.11:g.(?_32316455)_(32357935_?)del | BRCA2 | Pathogenic | 13 | 32890592 | 32932072 | na | na | criteria provided, single submitter | - |
| Duplication | NC_000013.10:g.(?_32944533)_(32945243_?)dup | BRCA2 | Likely pathogenic | 13 | 32944533 | 32945243 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000013.11:g.(?_32329437)_(32341202_?)del | BRCA2 | Pathogenic | 13 | 32903574 | 32915339 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000013.11:g.(?_32356422)_(32356615_?)del | BRCA2 | Pathogenic | 13 | 32930559 | 32930752 | na | na | criteria provided, single submitter | - |
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