Knowledge base for genomic medicine in Japanese
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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 | NC_000017.11:g.(?_58720746)_(58734342_?)del | RAD51C | Pathogenic | 17 | 56798107 | 56811703 | na | na | criteria provided, single submitter | - |
| Deletion | NM_058216.2(RAD51C):c.706-?_*120del | RAD51C | Pathogenic | 17 | 56787220 | 56811703 | na | na | criteria provided, single submitter | - |
| Deletion | NM_058216.2(RAD51C):c.572-?_*120del | RAD51C | Pathogenic | 17 | 56780557 | 56811703 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_58732474)_(58734232_?)del | RAD51C | Pathogenic | 17 | 56809835 | 56811593 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_58720736)_(58734232_?)del | RAD51C | Pathogenic | 17 | 56798097 | 56811593 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_58703186)_(58734232_?)del | RAD51C | Pathogenic | 17 | 56780547 | 56811593 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_58709849)_(58734232_?)del | RAD51C | Pathogenic | 17 | 56787210 | 56811593 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_58734112)_(58734228_?)del | RAD51C | Likely pathogenic | 17 | 56811473 | 56811589 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000017.11:g.(?_58692638)_(58734228_?)del | RAD51C | Pathogenic | 17 | 56769999 | 56811589 | na | na | criteria provided, single submitter | - |
| Deletion | NM_058216.1(RAD51C):c.572-?_(*1_?)del | RAD51C | Pathogenic | 17 | 56780557 | 56811584 | na | na | criteria provided, single submitter | - |
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