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腫瘍性疾患
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NM_000059.4(BRCA2):c.994del (p.Ile332fs) | BRCA2 | Pathogenic | 13 | 32906603 | 32906603 | GA | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA2):1222&base_change=del A,ClinGen:CA026345 |
| Duplication | NM_000059.4(BRCA2):c.994dup (p.Ile332fs) | BRCA2 | Pathogenic | 13 | 32906602 | 32906603 | G | GA | reviewed by expert panel | ClinGen:CA026342 |
| Duplication | NM_007294.4(BRCA1):c.1008dup (p.Glu337fs) | BRCA1 | Pathogenic | 17 | 41246539 | 41246540 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1127&base_change=ins A,ClinGen:CA000680 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1012A>T (p.Lys338Ter) | BRCA1 | Pathogenic | 17 | 41246536 | 41246536 | T | A | reviewed by expert panel | ClinGen:CA000683 |
| Duplication | NM_007294.4(BRCA1):c.1016dup (p.Val340fs) | BRCA1 | Pathogenic | 17 | 41246531 | 41246532 | C | CT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1129&base_change=ins A,Breast Cancer Information Core (BIC) (BRCA1):1135&base_change=ins A,ClinGen:CA000681,OMIM:113705.0005,OMIM:113705.0027 |
| Deletion | NM_007294.4(BRCA1):c.101del (p.Pro34fs) | BRCA1 | Pathogenic | 17 | 41267776 | 41267776 | AG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):220&base_change=del C,ClinGen:CA000692 |
| Deletion | NM_007294.4(BRCA1):c.1039_1040del (p.Leu347fs) | BRCA1 | Pathogenic | 17 | 41246508 | 41246509 | CAG | C | reviewed by expert panel | ClinGen:CA356572 |
| Deletion | NM_007294.4(BRCA1):c.1040del (p.Leu347fs) | BRCA1 | Pathogenic | 17 | 41246508 | 41246508 | CA | C | reviewed by expert panel | ClinGen:CA000699 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1045G>T (p.Glu349Ter) | BRCA1 | Pathogenic | 17 | 41246503 | 41246503 | C | A | reviewed by expert panel | ClinGen:CA000701 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1054G>T (p.Glu352Ter) | BRCA1 | Pathogenic | 17 | 41246494 | 41246494 | C | A | reviewed by expert panel | ClinGen:CA000702 |
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