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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_000249.4(MLH1):c.678-3_678-2del | MLH1 | Pathogenic | 3 | 37055919 | 37055920 | AAT | A | reviewed by expert panel | ClinGen:CA331100 |
| Deletion | NM_000249.4(MLH1):c.678-9_693del | MLH1 | Pathogenic | 3 | 37055912 | 37055936 | CTTTTCTAATAGAGAACTGATAGAAA | C | reviewed by expert panel | ClinGen:CA331101 |
| single nucleotide variant | NM_000249.4(MLH1):c.67G>T (p.Glu23Ter) | MLH1 | Pathogenic | 3 | 37035105 | 37035105 | G | T | reviewed by expert panel | ClinGen:CA011669 |
| Deletion | NM_000249.4(MLH1):c.67del (p.Glu23fs) | MLH1 | Pathogenic | 3 | 37035101 | 37035101 | CG | C | reviewed by expert panel | ClinGen:CA011654 |
| Duplication | NM_000249.4(MLH1):c.683dup (p.Ile229fs) | MLH1 | Pathogenic | 3 | 37055927 | 37055928 | C | CT | reviewed by expert panel | ClinGen:CA011685 |
| Deletion | NM_000249.4(MLH1):c.693del (p.Ile231fs) | MLH1 | Pathogenic | 3 | 37055937 | 37055937 | AT | A | reviewed by expert panel | ClinGen:CA011698 |
| Deletion | NM_000249.4(MLH1):c.70del (p.Val24fs) | MLH1 | Pathogenic | 3 | 37035108 | 37035108 | AG | A | reviewed by expert panel | ClinGen:CA011786 |
| single nucleotide variant | NM_000249.4(MLH1):c.731G>A (p.Gly244Asp) | MLH1 | Pathogenic | 3 | 37055976 | 37055976 | G | A | reviewed by expert panel | ClinGen:CA011836,UniProtKB:P40692#VAR_012911 |
| Deletion | NM_000249.4(MLH1):c.731_734del (p.Gly244fs) | MLH1 | Pathogenic | 3 | 37055976 | 37055979 | GGTTA | G | reviewed by expert panel | ClinGen:CA011819 |
| single nucleotide variant | NM_000249.4(MLH1):c.739T>C (p.Ser247Pro) | MLH1 | Pathogenic | 3 | 37055984 | 37055984 | T | C | reviewed by expert panel | ClinGen:CA011855,UniProtKB:P40692#VAR_043400 |
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