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遺伝性乳がん・卵巣がん症候群
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.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 |
| 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 |
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