Knowledge base for genomic medicine in Japanese
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リンチ症候群
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_000535.5(PMS2):c.354-?_(*160_?)del | PMS2 | Pathogenic | 7 | 6012870 | 6042267 | na | na | reviewed by expert panel | - |
| Deletion | NM_000535.5(PMS2):c.904-?_(*160_?)del | PMS2 | Pathogenic | 7 | 6012870 | 6031688 | na | na | reviewed by expert panel | - |
| Deletion | NM_000535.5(PMS2):c.989-?_(*160_?)del | PMS2 | Pathogenic | 7 | 6012870 | 6029586 | na | na | reviewed by expert panel | - |
| Deletion | NC_000007.14:g.(?_5973389)_(5983001_?)del | PMS2 | Pathogenic | 7 | 6013020 | 6022632 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5973389)_(5973552_?)del | PMS2 | Pathogenic | 7 | 6013020 | 6013183 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5973393)_(5982997_?)del | PMS2 | Pathogenic | 7 | 6013024 | 6022628 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5973393)_(5973548_?)del | PMS2 | Pathogenic | 7 | 6013024 | 6013179 | na | na | criteria provided, single submitter | - |
| Deletion | Single allele | PMS2 | Likely pathogenic | 7 | 6013030 | 6017388 | na | na | criteria provided, single submitter | - |
| Deletion | NM_000535.7(PMS2):c.2533del (p.His845fs) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6013086 | 6013086 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16618484 |
| single nucleotide variant | NM_000535.7(PMS2):c.2531C>A (p.Pro844His) | PMS2 | Likely pathogenic | 7 | 6013088 | 6013088 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011663 |
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