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) | ||||||||||
| Indel | NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs) | BRCA2 | Pathogenic | 13 | 32954278 | 32954281 | AACA | TT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):9480&base_change=del AACA ins TT,ClinGen:CA026051 |
| Deletion | NM_000059.4(BRCA2):c.9376del (p.Gln3126fs) | BRCA2 | Pathogenic | 13 | 32968944 | 32968944 | TC | T | reviewed by expert panel | ClinGen:CA026123 |
| single nucleotide variant | NM_000059.4(BRCA2):c.9573G>A (p.Trp3191Ter) | BRCA2 | Pathogenic | 13 | 32971106 | 32971106 | G | A | reviewed by expert panel | ClinGen:CA026218 |
| Deletion | NM_000059.4(BRCA2):c.9682del (p.Ser3228fs) | BRCA2 | Pathogenic | 13 | 32972330 | 32972330 | CA | C | reviewed by expert panel | ClinGen:CA026267 |
| Deletion | NM_000059.4(BRCA2):c.9808del (p.Ala3270fs) | BRCA2 | Pathogenic | 13 | 32972458 | 32972458 | AG | A | reviewed by expert panel | ClinGen:CA026301 |
| Deletion | NM_000059.4(BRCA2):c.9824del (p.Ser3275fs) | BRCA2 | Pathogenic | 13 | 32972474 | 32972474 | AG | A | reviewed by expert panel | ClinGen:CA026307 |
| Deletion | NM_007294.4(BRCA1):c.1086_1141del (p.Asn363fs) | BRCA1 | Pathogenic | 17 | 41246407 | 41246462 | TTCTGAATGCTGCTATTTAGTGTTATCCAAGGAACATCTTCAGTATCTCTAGGATTC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1205&base_change=del 56,ClinGen:CA000729 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1093A>T (p.Arg365Ter) | BRCA1 | Pathogenic | 17 | 41246455 | 41246455 | T | A | reviewed by expert panel | ClinGen:CA000732 |
| Deletion | NM_007294.4(BRCA1):c.1292del (p.Leu431fs) | BRCA1 | Pathogenic | 17 | 41246256 | 41246256 | TA | T | reviewed by expert panel | ClinGen:CA000844 |
| Duplication | NM_007294.4(BRCA1):c.1325_1326dup (p.Lys443fs) | BRCA1 | Pathogenic | 17 | 41246221 | 41246222 | T | TAC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1445&base_change=ins GT,ClinGen:CA000864 |
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