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.6223A>T (p.Lys2075Ter) | BRCA2 | Pathogenic | 13 | 32914715 | 32914715 | A | T | criteria provided, single submitter | ClinGen:CA387788877 |
| single nucleotide variant | NM_000059.4(BRCA2):c.9310A>T (p.Lys3104Ter) | BRCA2 | Pathogenic | 13 | 32968879 | 32968879 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA387760919 |
| Duplication | NM_000059.4(BRCA2):c.6327dup (p.Asp2110Ter) | BRCA2 | Pathogenic | 13 | 32914817 | 32914818 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656328 |
| Indel | NM_000059.4(BRCA2):c.6336_6340delinsTTT (p.Arg2112fs) | BRCA2 | Pathogenic | 13 | 32914828 | 32914832 | AAACC | TTT | criteria provided, single submitter | ClinGen:CA658656329 |
| 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 |
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