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_007294.4(BRCA1):c.2188_2195delinsAAAAAGG (p.Glu730fs) | BRCA1 | Pathogenic | 17 | 41245353 | 41245360 | TCTTTTTC | CCTTTTT | reviewed by expert panel | ClinGen:CA10589879 |
| Indel | NM_007294.4(BRCA1):c.2194delinsAA (p.Glu732fs) | BRCA1 | Pathogenic | 17 | 41245354 | 41245354 | C | TT | reviewed by expert panel | ClinGen:CA10589880 |
| Deletion | NM_007294.4(BRCA1):c.2193del (p.Glu732fs) | BRCA1 | Pathogenic | 17 | 41245355 | 41245355 | CT | C | reviewed by expert panel | ClinGen:CA10589881 |
| Deletion | NM_007294.4(BRCA1):c.2185_2189del (p.Glu729fs) | BRCA1 | Pathogenic | 17 | 41245359 | 41245363 | TTCTTC | T | reviewed by expert panel | ClinGen:CA10589882 |
| Insertion | NM_007294.4(BRCA1):c.2161_2162insG (p.Phe721fs) | BRCA1 | Pathogenic | 17 | 41245386 | 41245387 | A | AC | reviewed by expert panel | ClinGen:CA10589883 |
| Deletion | NM_007294.4(BRCA1):c.2157_2160del (p.Lys719fs) | BRCA1 | Pathogenic | 17 | 41245388 | 41245391 | ATTCT | A | reviewed by expert panel | ClinGen:CA10589884 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2149G>T (p.Glu717Ter) | BRCA1 | Pathogenic | 17 | 41245399 | 41245399 | C | A | reviewed by expert panel | ClinGen:CA10589885 |
| Indel | NM_007294.4(BRCA1):c.2142_2144delinsAG (p.Asn714fs) | BRCA1 | Pathogenic | 17 | 41245404 | 41245406 | GTA | CT | reviewed by expert panel | ClinGen:CA10589886 |
| Duplication | NM_007294.4(BRCA1):c.2138_2139dup (p.Asn714fs) | BRCA1 | Pathogenic | 17 | 41245408 | 41245409 | T | TTG | reviewed by expert panel | ClinGen:CA10589887 |
| Duplication | NM_007294.4(BRCA1):c.2112_2131dup (p.Lys711fs) | BRCA1 | Pathogenic | 17 | 41245416 | 41245417 | T | TTAGTAAAAGAACCAGGTGCA | reviewed by expert panel | ClinGen:CA10589889 |
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