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_007294.4(BRCA1):c.303T>G (p.Tyr101Ter) | BRCA1 | Pathogenic | 17 | 41256277 | 41256277 | A | C | reviewed by expert panel | ClinGen:CA001996 |
| Duplication | NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs) | BRCA1 | Pathogenic | 17 | 41244495 | 41244496 | T | TTCTCA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3166&base_change=ins TGAGA,Breast Cancer Information Core (BIC) (BRCA1):3171&base_change=ins TGAGA,ClinGen:CA002003,OMIM:113705.0033 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter) | BRCA1 | Pathogenic | 17 | 41244499 | 41244499 | C | A | reviewed by expert panel | ClinGen:CA002004 |
| Deletion | NM_007294.4(BRCA1):c.3084_3094del (p.Asn1029fs) | BRCA1 | Pathogenic | 17 | 41244454 | 41244464 | CTAATGTTATTA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3203&base_change=del TAATAACATTA,ClinGen:CA002023 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3097G>T (p.Glu1033Ter) | BRCA1 | Pathogenic | 17 | 41244451 | 41244451 | C | A | reviewed by expert panel | ClinGen:CA002029 |
| Deletion | NM_007294.4(BRCA1):c.3107_3112del (p.Phe1036_Glu1038delinsTer) | BRCA1 | Pathogenic | 17 | 41244436 | 41244441 | TCTTTAA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3226&base_change=del TTAAAG,ClinGen:CA002032 |
| Deletion | NM_007294.4(BRCA1):c.3108del (p.Phe1036fs) | BRCA1 | Pathogenic | 17 | 41244440 | 41244440 | TA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3227&base_change=del T,ClinGen:CA002034 |
| Duplication | NM_007294.4(BRCA1):c.3108dup (p.Lys1037Ter) | BRCA1 | Pathogenic | 17 | 41244439 | 41244440 | T | TA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3223&base_change=ins T,ClinGen:CA002031 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3122C>G (p.Ser1041Ter) | BRCA1 | Pathogenic | 17 | 41244426 | 41244426 | G | C | reviewed by expert panel | ClinGen:CA002040 |
| Deletion | NM_007294.4(BRCA1):c.3125_3134del (p.Ser1042fs) | BRCA1 | Pathogenic | 17 | 41244414 | 41244423 | ATTAATATTGC | A | reviewed by expert panel | ClinGen:CA002042 |
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