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.1103C>G (p.Ser368Ter) | BRCA2 | Pathogenic | 13 | 32906718 | 32906718 | C | G | reviewed by expert panel | ClinGen:CA387761567 |
| Deletion | NM_000059.4(BRCA2):c.2176del (p.Val726fs) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32910668 | 32910668 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683818 |
| Insertion | NM_000059.4(BRCA2):c.2687_2688insGA (p.Asn896fs) | BRCA2 | Likely pathogenic | 13 | 32911178 | 32911179 | A | AAG | criteria provided, single submitter | ClinGen:CA658683842 |
| Deletion | NM_000059.4(BRCA2):c.2989_2990del (p.Leu997fs) | BRCA2 | Likely pathogenic | 13 | 32911481 | 32911482 | CTT | C | criteria provided, single submitter | ClinGen:CA658683853 |
| single nucleotide variant | NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32929409 | 32929409 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA387741973 |
| Deletion | NM_000059.4(BRCA2):c.9766_9770del (p.Glu3256fs) | BRCA2 | Likely pathogenic | 13 | 32972416 | 32972420 | GGAGAA | G | criteria provided, single submitter | ClinGen:CA658683834 |
| single nucleotide variant | NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32906817 | 32906817 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA387762066 |
| single nucleotide variant | NM_000059.4(BRCA2):c.1648G>T (p.Glu550Ter) | BRCA2 | Likely pathogenic | 13 | 32907263 | 32907263 | G | T | criteria provided, single submitter | ClinGen:CA387764993 |
| Duplication | NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs) | BRCA2 | Pathogenic/Likely pathogenic | 13 | 32913691 | 32913692 | C | CG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683841 |
| single nucleotide variant | NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter) | BRCA2 | Likely pathogenic | 13 | 32914608 | 32914608 | T | G | criteria provided, single submitter | ClinGen:CA387788150 |
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