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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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.678T>A (p.Cys226Ter) | BRCA1 | Pathogenic | 17 | 41246870 | 41246870 | A | T | reviewed by expert panel | ClinGen:CA003811 |
| Deletion | NM_007294.4(BRCA1):c.685del (p.Ser229fs) | BRCA1 | Pathogenic | 17 | 41246863 | 41246863 | GA | G | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):804&base_change=del T,ClinGen:CA003813 |
| Duplication | NM_007294.4(BRCA1):c.68dup (p.Cys24fs) | BRCA1 | Pathogenic | 17 | 41276045 | 41276046 | C | CT | reviewed by expert panel | ClinGen:CA328041 |
| single nucleotide variant | NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg) | BRCA1 | Pathogenic/Likely pathogenic | 17 | 41276044 | 41276044 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA003829 |
| Duplication | NM_007294.4(BRCA1):c.70_73dup (p.Pro25fs) | BRCA1 | Pathogenic | 17 | 41276040 | 41276041 | G | GGACA | reviewed by expert panel | ClinGen:CA328042 |
| Deletion | NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs) | BRCA1 | Pathogenic | 17 | 41276034 | 41276044 | CCAGATGGGACA | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):188&base_change=del GTGTCCCATCT,Breast Cancer Information Core (BIC) (BRCA1):189&base_change=del 11,ClinGen:CA003827 |
| Deletion | NM_007294.4(BRCA1):c.72_73del (p.Pro25fs) | BRCA1 | Pathogenic | 17 | 41276041 | 41276042 | GGA | G | reviewed by expert panel | ClinGen:CA003836 |
| Deletion | NM_007294.4(BRCA1):c.731del (p.Asn244fs) | BRCA1 | Pathogenic | 17 | 41246817 | 41246817 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):850&base_change=del A,ClinGen:CA003839 |
| Deletion | NM_007294.4(BRCA1):c.737del (p.Asp245_Leu246insTer) | BRCA1 | Pathogenic | 17 | 41246811 | 41246811 | CA | C | reviewed by expert panel | ClinGen:CA003844 |
| Duplication | NM_007294.4(BRCA1):c.742dup (p.Thr248fs) | BRCA1 | Pathogenic | 17 | 41246805 | 41246806 | G | GT | reviewed by expert panel | ClinGen:CA328045 |
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