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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.3112G>T (p.Glu1038Ter) | BRCA1 | Pathogenic | 17 | 41244436 | 41244436 | C | A | reviewed by expert panel | ClinGen:CA002035 |
| Deletion | NM_007294.4(BRCA1):c.3174del (p.Asn1059fs) | BRCA1 | Pathogenic | 17 | 41244374 | 41244374 | TA | T | reviewed by expert panel | ClinGen:CA002069 |
| Deletion | NM_007294.4(BRCA1):c.329del (p.Lys110fs) | BRCA1 | Pathogenic | 17 | 41256251 | 41256251 | CT | C | reviewed by expert panel | ClinGen:CA002130 |
| Deletion | NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs) | BRCA1 | Pathogenic | 17 | 41244214 | 41244217 | TCTTG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3447&base_change=del AAGC,Breast Cancer Information Core (BIC) (BRCA1):3448&base_change=del AGCA,Breast Cancer Information Core (BIC) (BRCA1):3450&base_change=del CAAG,ClinGen:CA002149 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3352C>T (p.Gln1118Ter) | BRCA1 | Pathogenic | 17 | 41244196 | 41244196 | G | A | reviewed by expert panel | ClinGen:CA002172 |
| Deletion | NM_007294.4(BRCA1):c.3358_3359del (p.Thr1119_Val1120insTer) | BRCA1 | Pathogenic | 17 | 41244189 | 41244190 | AAC | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3477&base_change=del GT,ClinGen:CA002178 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3389C>G (p.Ser1130Ter) | BRCA1 | Pathogenic | 17 | 41244159 | 41244159 | G | C | reviewed by expert panel | ClinGen:CA002190 |
| single nucleotide variant | NM_007294.4(BRCA1):c.3400G>T (p.Glu1134Ter) | BRCA1 | Pathogenic | 17 | 41244148 | 41244148 | C | A | reviewed by expert panel | ClinGen:CA002199 |
| Deletion | NM_007294.4(BRCA1):c.3442del (p.Glu1148fs) | BRCA1 | Pathogenic | 17 | 41244106 | 41244106 | TC | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3561&base_change=del G,ClinGen:CA002227 |
| Deletion | NM_007294.4(BRCA1):c.3485del (p.Asp1162fs) | BRCA1 | Pathogenic | 17 | 41244063 | 41244063 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):3604&base_change=del A,ClinGen:CA002247 |
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