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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.488del (p.Arg163fs) | BRCA1 | Pathogenic | 17 | 41251851 | 41251851 | TC | T | reviewed by expert panel | ClinGen:CA003064 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4903G>T (p.Glu1635Ter) | BRCA1 | Pathogenic | 17 | 41223028 | 41223028 | C | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5022&base_change=G to T,ClinGen:CA003073 |
| Deletion | NM_007294.4(BRCA1):c.4910del (p.Pro1637fs) | BRCA1 | Pathogenic | 17 | 41223021 | 41223021 | TG | T | reviewed by expert panel | ClinGen:CA003077 |
| single nucleotide variant | NM_007294.4(BRCA1):c.4930G>T (p.Glu1644Ter) | BRCA1 | Pathogenic | 17 | 41223001 | 41223001 | C | A | reviewed by expert panel | ClinGen:CA003081 |
| Deletion | NM_007294.4(BRCA1):c.4936del (p.Val1646fs) | BRCA1 | Pathogenic | 17 | 41222995 | 41222995 | AC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5053&base_change=del G,Breast Cancer Information Core (BIC) (BRCA1):5055&base_change=del G,ClinGen:CA003086 |
| Deletion | NM_007294.4(BRCA1):c.493del (p.Thr164_Leu165insTer) | BRCA1 | Pathogenic | 17 | 41251846 | 41251846 | AG | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):612&base_change=del C,ClinGen:CA003091 |
| Deletion | NM_007294.4(BRCA1):c.4941del (p.Asn1647fs) | BRCA1 | Pathogenic | 17 | 41222990 | 41222990 | TG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5060&base_change=del C,ClinGen:CA003093 |
| Indel | NM_007294.4(BRCA1):c.4945_4947delinsTTTT (p.Arg1649fs) | BRCA1 | Pathogenic | 17 | 41222984 | 41222986 | TCT | AAAA | reviewed by expert panel | ClinGen:CA003097 |
| Deletion | NM_007294.4(BRCA1):c.4945del (p.Arg1649fs) | BRCA1 | Pathogenic | 17 | 41222986 | 41222986 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):5061&base_change=del A,ClinGen:CA003094 |
| Duplication | NM_007294.4(BRCA1):c.494dup (p.Arg166fs) | BRCA1 | Pathogenic | 17 | 41251844 | 41251845 | C | CA | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):613&base_change=ins T,ClinGen:CA003096 |
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