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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.195del (p.Thr66fs) | MLH1 | Pathogenic | 3 | 37038188 | 37038188 | GC | G | reviewed by expert panel | ClinGen:CA007780 |
| single nucleotide variant | NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu) | MLH1 | Pathogenic | 3 | 37090072 | 37090072 | C | T | reviewed by expert panel | ClinGen:CA007789,UniProtKB:P40692#VAR_043431 |
| Deletion | NM_000249.4(MLH1):c.1971del (p.Leu658fs) | MLH1 | Pathogenic | 3 | 37090081 | 37090081 | AT | A | reviewed by expert panel | ClinGen:CA007831 |
| single nucleotide variant | NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter) | MLH1 | Pathogenic | 3 | 37090086 | 37090086 | C | T | reviewed by expert panel | ClinGen:CA007865 |
| Deletion | NM_000249.4(MLH1):c.1975_1976del (p.Arg659fs) | MLH1 | Pathogenic | 3 | 37090086 | 37090087 | TCG | T | reviewed by expert panel | ClinGen:CA007848 |
| single nucleotide variant | NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro) | MLH1 | Pathogenic | 3 | 37090087 | 37090087 | G | C | reviewed by expert panel | ClinGen:CA007900,UniProtKB:P40692#VAR_004465 |
| single nucleotide variant | NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu) | MLH1 | Pathogenic | 3 | 37090087 | 37090087 | G | T | reviewed by expert panel | ClinGen:CA007908,UniProtKB:P40692#VAR_012929 |
| Deletion | NM_000249.4(MLH1):c.1976_1977del (p.Arg659fs) | MLH1 | Pathogenic | 3 | 37090087 | 37090088 | CGA | C | reviewed by expert panel | ClinGen:CA007874 |
| single nucleotide variant | NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro) | MLH1 | Likely pathogenic | 3 | 37090095 | 37090095 | A | C | reviewed by expert panel | ClinGen:CA007926,UniProtKB:P40692#VAR_012930 |
| Indel | NM_000249.4(MLH1):c.1986_1989+1delinsC | MLH1 | Pathogenic | 3 | 37090097 | 37090101 | TGAGG | C | reviewed by expert panel | ClinGen:CA330863 |
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