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_000059.4(BRCA2):c.6446_6447del (p.Ile2149fs) | BRCA2 | Pathogenic | 13 | 32914938 | 32914939 | ATT | A | reviewed by expert panel | ClinGen:CA10579695 |
Deletion | NM_000059.4(BRCA2):c.6567_6573del (p.Asn2189fs) | BRCA2 | Pathogenic | 13 | 32915055 | 32915061 | AAAAACGT | A | reviewed by expert panel | ClinGen:CA10579702 |
Deletion | NM_000059.4(BRCA2):c.6596del (p.Thr2199fs) | BRCA2 | Pathogenic | 13 | 32915088 | 32915088 | AC | A | reviewed by expert panel | ClinGen:CA10579704 |
Duplication | NM_000059.4(BRCA2):c.6699_6702dup (p.Met2235fs) | BRCA2 | Pathogenic | 13 | 32915190 | 32915191 | C | CTTTT | reviewed by expert panel | ClinGen:CA10579705 |
single nucleotide variant | NM_000059.4(BRCA2):c.6781G>T (p.Glu2261Ter) | BRCA2 | Pathogenic | 13 | 32915273 | 32915273 | G | T | reviewed by expert panel | ClinGen:CA10579711 |
Duplication | NM_000059.4(BRCA2):c.6990dup (p.Thr2331fs) | BRCA2 | Pathogenic | 13 | 32921014 | 32921015 | A | AT | reviewed by expert panel | ClinGen:CA10579717 |
Indel | NM_000059.4(BRCA2):c.7209_7212delinsGG (p.Lys2404fs) | BRCA2 | Pathogenic | 13 | 32929199 | 32929202 | CAAA | GG | reviewed by expert panel | ClinGen:CA10579727 |
Duplication | NM_000059.4(BRCA2):c.7218dup (p.Val2407fs) | BRCA2 | Pathogenic | 13 | 32929205 | 32929206 | C | CT | reviewed by expert panel | ClinGen:CA10579728 |
Deletion | NM_000059.4(BRCA2):c.7341_7342del (p.Asn2447fs) | BRCA2 | Pathogenic | 13 | 32929330 | 32929331 | AAT | A | reviewed by expert panel | ClinGen:CA10579733 |
single nucleotide variant | NM_000059.4(BRCA2):c.7366C>T (p.Gln2456Ter) | BRCA2 | Pathogenic | 13 | 32929356 | 32929356 | C | T | reviewed by expert panel | ClinGen:CA10579735 |