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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) | ||||||||||
| Duplication | NM_000249.4(MLH1):c.150dup (p.Val51fs) | MLH1 | Pathogenic | 3 | 37038141 | 37038142 | A | AT | reviewed by expert panel | ClinGen:CA005617 |
| Deletion | NM_000249.4(MLH1):c.1520del (p.Val506_Leu507insTer) | MLH1 | Pathogenic | 3 | 37070382 | 37070382 | GT | G | reviewed by expert panel | ClinGen:CA005655 |
| Duplication | NM_000249.4(MLH1):c.1520dup (p.Leu507fs) | MLH1 | Pathogenic | 3 | 37070381 | 37070382 | G | GT | reviewed by expert panel | ClinGen:CA005649 |
| single nucleotide variant | NM_000249.4(MLH1):c.1528C>T (p.Gln510Ter) | MLH1 | Pathogenic | 3 | 37070393 | 37070393 | C | T | reviewed by expert panel | ClinGen:CA005676 |
| single nucleotide variant | NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter) | MLH1 | Pathogenic | 3 | 37070399 | 37070399 | G | T | reviewed by expert panel | ClinGen:CA005696 |
| Duplication | NM_000249.4(MLH1):c.153dup (p.Lys52Ter) | MLH1 | Pathogenic | 3 | 37038144 | 37038145 | G | GT | reviewed by expert panel | ClinGen:CA330742 |
| Duplication | NM_000249.4(MLH1):c.1542dup (p.Glu515Ter) | MLH1 | Pathogenic | 3 | 37070406 | 37070407 | A | AT | reviewed by expert panel | ClinGen:CA005708 |
| single nucleotide variant | NM_000249.4(MLH1):c.1549G>T (p.Gly517Ter) | MLH1 | Pathogenic | 3 | 37070414 | 37070414 | G | T | reviewed by expert panel | ClinGen:CA005724 |
| Insertion | NM_000249.4(MLH1):c.1552_1553insT (p.His518fs) | MLH1 | Pathogenic | 3 | 37070417 | 37070418 | C | CT | reviewed by expert panel | ClinGen:CA005761 |
| Deletion | NM_000249.4(MLH1):c.1552del (p.His518fs) | MLH1 | Pathogenic | 3 | 37070417 | 37070417 | AC | A | reviewed by expert panel | ClinGen:CA005769 |
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