Knowledge base for genomic medicine in Japanese
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家族性膵がん
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) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.3496del (p.Ala1166fs) | BRCA1 | Pathogenic | 17 | 41244052 | 41244052 | GC | G | reviewed by expert panel | ClinGen:CA10586628 |
| Deletion | NM_007294.4(BRCA1):c.3458_3462del (p.Leu1153fs) | BRCA1 | Pathogenic | 17 | 41244086 | 41244090 | CTAACA | C | reviewed by expert panel | ClinGen:CA10586629 |
| Deletion | NM_007294.4(BRCA1):c.3459_3460del (p.Leu1154fs) | BRCA1 | Pathogenic | 17 | 41244088 | 41244089 | AAC | A | reviewed by expert panel | ClinGen:CA10586630 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3442G>T (p.Glu1148Ter) | BRCA1 | Pathogenic | 17 | 41244106 | 41244106 | C | A | reviewed by expert panel | ClinGen:CA10586631 |
| Deletion | NM_007294.4(BRCA1):c.3330del (p.Lys1110fs) | BRCA1 | Pathogenic | 17 | 41244218 | 41244218 | GC | G | reviewed by expert panel | ClinGen:CA10586632 |
| Deletion | NM_007294.4(BRCA1):c.3279_3280del (p.Val1093_Tyr1094insTer) | BRCA1 | Pathogenic | 17 | 41244268 | 41244269 | TAG | T | reviewed by expert panel | ClinGen:CA10586633 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3226A>T (p.Arg1076Ter) | BRCA1 | Pathogenic | 17 | 41244322 | 41244322 | T | A | reviewed by expert panel | ClinGen:CA10586634 |
| Deletion | NM_007294.4(BRCA1):c.3015del (p.Glu1005fs) | BRCA1 | Pathogenic | 17 | 41244533 | 41244533 | GT | G | reviewed by expert panel | ClinGen:CA10586635 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3001G>T (p.Glu1001Ter) | BRCA1 | Pathogenic | 17 | 41244547 | 41244547 | C | A | reviewed by expert panel | ClinGen:CA10586636 |
| Deletion | NM_007294.4(BRCA1):c.2927del (p.Asn976fs) | BRCA1 | Pathogenic | 17 | 41244621 | 41244621 | GT | G | reviewed by expert panel | ClinGen:CA10586637 |
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