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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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.3661G>T (p.Glu1221Ter) | BRCA1 | Pathogenic | 17 | 41243887 | 41243887 | C | A | reviewed by expert panel | ClinGen:CA002345 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3664G>T (p.Glu1222Ter) | BRCA1 | Pathogenic | 17 | 41243884 | 41243884 | C | A | reviewed by expert panel | ClinGen:CA002348 |
| Duplication | NM_007294.4(BRCA1):c.3668_3671dup (p.Cys1225fs) | BRCA1 | Pathogenic | 17 | 41243876 | 41243877 | G | GGGAA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3790&base_change=ins TTCC,ClinGen:CA002351 |
| Deletion | NM_007294.4(BRCA1):c.3676_3679del (p.Phe1226fs) | BRCA1 | Pathogenic | 17 | 41243869 | 41243872 | TGGAA | T | reviewed by expert panel | ClinGen:CA002353,Breast Cancer Information Core (BIC) (BRCA1):3795&base_change=del TTCC |
| Duplication | NM_007294.4(BRCA1):c.3693dup (p.Gly1232fs) | BRCA1 | Pathogenic | 17 | 41243854 | 41243855 | C | CA | reviewed by expert panel | ClinGen:CA327887 |
| Deletion | NM_007294.4(BRCA1):c.3695_3698del (p.Gly1232fs) | BRCA1 | Pathogenic | 17 | 41243850 | 41243853 | TTTAC | T | reviewed by expert panel | ClinGen:CA002362 |
| Deletion | NM_007294.4(BRCA1):c.3704_3707del (p.Asn1235fs) | BRCA1 | Pathogenic | 17 | 41243841 | 41243844 | ATTGT | A | reviewed by expert panel | ClinGen:CA002372 |
| Deletion | NM_007294.4(BRCA1):c.3704del (p.Asn1235fs) | BRCA1 | Pathogenic | 17 | 41243844 | 41243844 | GT | G | reviewed by expert panel | ClinGen:CA002373 |
| Deletion | NM_007294.4(BRCA1):c.3706_3707del (p.Asn1236fs) | BRCA1 | Pathogenic | 17 | 41243841 | 41243842 | ATT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3825&base_change=del AA,ClinGen:CA002374 |
| Deletion | NM_007294.4(BRCA1):c.3706_3713del (p.Asn1236fs) | BRCA1 | Pathogenic | 17 | 41243835 | 41243842 | AGGTATATT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3825&base_change=del AATATACC,ClinGen:CA002375 |
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