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) | ||||||||||
| Indel | NM_000059.4(BRCA2):c.9556_9567delinsAAGTGGTCCACCCCAACTA (p.Ala3186fs) | BRCA2 | Pathogenic | 13 | 32971089 | 32971100 | GCAAATGATCCC | AAGTGGTCCACCCCAACTA | criteria provided, single submitter | ClinGen:CA658656375 |
| Indel | NM_000059.4(BRCA2):c.6355_6357delinsT (p.Asn2119fs) | BRCA2 | Pathogenic | 13 | 32914847 | 32914849 | AAC | T | criteria provided, single submitter | ClinGen:CA658656330 |
| single nucleotide variant | NM_000059.4(BRCA2):c.9649-1G>C | BRCA2 | Likely pathogenic | 13 | 32972298 | 32972298 | G | C | criteria provided, single submitter | ClinGen:CA387765050 |
| Duplication | NM_000059.4(BRCA2):c.270_273dup (p.Gln92fs) | BRCA2 | Pathogenic | 13 | 32893415 | 32893416 | T | TGTAC | criteria provided, single submitter | ClinGen:CA658656335 |
| Deletion | NM_000059.4(BRCA2):c.7279_7283del (p.Asn2427fs) | BRCA2 | Pathogenic | 13 | 32929267 | 32929271 | ATTAAC | A | criteria provided, single submitter | ClinGen:CA658656417 |
| single nucleotide variant | NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32930699 | 32930699 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA387743779 |
| Deletion | NM_000059.4(BRCA2):c.1992del (p.Thr665fs) | BRCA2 | Pathogenic | 13 | 32910482 | 32910482 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656350 |
| Deletion | NM_000059.4(BRCA2):c.2272del (p.Ser758fs) | BRCA2 | Pathogenic | 13 | 32910761 | 32910761 | GA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656370 |
| Indel | NM_000059.4(BRCA2):c.7833_7843delinsG (p.Asp2611fs) | BRCA2 | Pathogenic | 13 | 32936687 | 32936697 | TCCAAAGCTTA | G | criteria provided, single submitter | ClinGen:CA658656477 |
| Duplication | NM_000059.4(BRCA2):c.9330dup (p.Glu3111Ter) | BRCA2 | Pathogenic | 13 | 32968898 | 32968899 | A | AT | criteria provided, single submitter | ClinGen:CA658656359 |
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