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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) | ||||||||||
| single nucleotide variant | NM_000249.4(MLH1):c.887T>G (p.Leu296Ter) | MLH1 | Pathogenic | 3 | 37061803 | 37061803 | T | G | reviewed by expert panel | ClinGen:CA012965 |
| Duplication | NM_000249.4(MLH1):c.887dup (p.Leu296fs) | MLH1 | Pathogenic | 3 | 37061800 | 37061801 | G | GT | reviewed by expert panel | ClinGen:CA012954 |
| Deletion | NM_000249.4(MLH1):c.888del (p.Glu297fs) | MLH1 | Pathogenic | 3 | 37061804 | 37061804 | TA | T | reviewed by expert panel | ClinGen:CA012974 |
| single nucleotide variant | NM_000249.4(MLH1):c.889G>T (p.Glu297Ter) | MLH1 | Pathogenic | 3 | 37061805 | 37061805 | G | T | reviewed by expert panel | ClinGen:CA012996 |
| single nucleotide variant | NM_000249.4(MLH1):c.901C>T (p.Gln301Ter) | MLH1 | Pathogenic | 3 | 37061817 | 37061817 | C | T | reviewed by expert panel | ClinGen:CA013005 |
| Deletion | NM_000249.4(MLH1):c.901del (p.Gln301fs) | MLH1 | Pathogenic | 3 | 37061814 | 37061814 | TC | T | reviewed by expert panel | ClinGen:CA013016 |
| single nucleotide variant | NM_000249.4(MLH1):c.911A>T (p.Asp304Val) | MLH1 | Likely pathogenic | 3 | 37061827 | 37061827 | A | T | reviewed by expert panel | ClinGen:CA013044,UniProtKB:P40692#VAR_043405 |
| single nucleotide variant | NM_000249.4(MLH1):c.918T>A (p.Asn306Lys) | MLH1 | Pathogenic | 3 | 37061834 | 37061834 | T | A | reviewed by expert panel | ClinGen:CA013067 |
| Duplication | NM_000249.4(MLH1):c.921_922dup (p.His308fs) | MLH1 | Pathogenic | 3 | 37061836 | 37061837 | T | TGC | reviewed by expert panel | ClinGen:CA013112 |
| Deletion | NM_000249.4(MLH1):c.928del (p.Thr310fs) | MLH1 | Pathogenic | 3 | 37061844 | 37061844 | CA | C | reviewed by expert panel | ClinGen:CA013146 |
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