Knowledge base for genomic medicine in Japanese
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家族性膵がん
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) | ||||||||||
| Duplication | NM_000059.4(BRCA2):c.5085dup (p.Gly1696fs) | BRCA2 | Pathogenic | 13 | 32913575 | 32913576 | G | GA | reviewed by expert panel | - |
| Duplication | NM_000059.4(BRCA2):c.5219_5220dup (p.Ser1741Ter) | BRCA2 | Pathogenic | 13 | 32913710 | 32913711 | T | TTA | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.5240_5241insTA (p.Ser1748fs) | BRCA2 | Pathogenic | 13 | 32913731 | 32913732 | A | AAT | reviewed by expert panel | - |
| single nucleotide variant | NM_000059.4(BRCA2):c.5253C>A (p.Tyr1751Ter) | BRCA2 | Pathogenic | 13 | 32913745 | 32913745 | C | A | reviewed by expert panel | - |
| Duplication | NM_000059.4(BRCA2):c.5327dup (p.Leu1776fs) | BRCA2 | Pathogenic | 13 | 32913817 | 32913818 | A | AT | reviewed by expert panel | - |
| Duplication | NM_000059.4(BRCA2):c.5342dup (p.Asp1781fs) | BRCA2 | Pathogenic | 13 | 32913833 | 32913834 | G | GA | reviewed by expert panel | - |
| Duplication | NM_000059.4(BRCA2):c.5352dup (p.Thr1785fs) | BRCA2 | Pathogenic | 13 | 32913843 | 32913844 | A | AC | reviewed by expert panel | ClinGen:CA645509351 |
| Duplication | NM_000059.4(BRCA2):c.5415dup (p.Glu1806Ter) | BRCA2 | Pathogenic | 13 | 32913906 | 32913907 | A | AT | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.5606_5607insC (p.Ser1871fs) | BRCA2 | Pathogenic | 13 | 32914098 | 32914099 | G | GC | reviewed by expert panel | - |
| Duplication | NM_000059.4(BRCA2):c.5650dup (p.Ile1884fs) | BRCA2 | Pathogenic | 13 | 32914137 | 32914138 | C | CA | reviewed by expert panel | - |
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