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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) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.3710del (p.Ile1237fs) | BRCA1 | Pathogenic | 17 | 41243838 | 41243838 | TA | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3829&base_change=del T,ClinGen:CA002379 |
| Indel | NM_007294.4(BRCA1):c.3715_3717delinsC (p.Ser1239fs) | BRCA1 | Pathogenic | 17 | 41243831 | 41243833 | AGA | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3834&base_change=del TCT ins C,ClinGen:CA002383 |
| Deletion | NM_007294.4(BRCA1):c.3715del (p.Ser1239fs) | BRCA1 | Pathogenic | 17 | 41243833 | 41243833 | GA | G | reviewed by expert panel | ClinGen:CA002384 |
| Duplication | NM_007294.4(BRCA1):c.3716dup (p.Gln1240fs) | BRCA1 | Pathogenic | 17 | 41243831 | 41243832 | A | AG | reviewed by expert panel | ClinGen:CA327888 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter) | BRCA1 | Pathogenic | 17 | 41243830 | 41243830 | G | A | reviewed by expert panel | ClinGen:CA002387 |
| Deletion | NM_007294.4(BRCA1):c.3722_3740del (p.Ser1241fs) | BRCA1 | Pathogenic | 17 | 41243808 | 41243826 | AACGGTGCTATGCCTAGTAG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3841&base_change=del 19,ClinGen:CA002388 |
| Deletion | NM_007294.4(BRCA1):c.3736del (p.Thr1246fs) | BRCA1 | Pathogenic | 17 | 41243812 | 41243812 | GT | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3855&base_change=del A,ClinGen:CA002395 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3753T>A (p.Cys1251Ter) | BRCA1 | Pathogenic | 17 | 41243795 | 41243795 | A | T | reviewed by expert panel | ClinGen:CA002405 |
| Deletion | NM_007294.4(BRCA1):c.3756_3757del (p.Leu1252_Ser1253insTer) | BRCA1 | Pathogenic | 17 | 41243791 | 41243792 | GAC | G | reviewed by expert panel | ClinGen:CA002406 |
| Duplication | NM_007294.4(BRCA1):c.3759dup (p.Lys1254Ter) | BRCA1 | Pathogenic | 17 | 41243788 | 41243789 | T | TA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3878&base_change=ins T,ClinGen:CA002411 |
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