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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.31del (p.Leu11fs) | MLH1 | Pathogenic | 3 | 37035069 | 37035069 | GC | G | reviewed by expert panel | ClinGen:CA009781 |
| single nucleotide variant | NM_000249.4(MLH1):c.320T>G (p.Ile107Arg) | MLH1 | Pathogenic | 3 | 37045905 | 37045905 | T | G | reviewed by expert panel | ClinGen:CA009787,UniProtKB:P40692#VAR_004444 |
| single nucleotide variant | NM_000249.4(MLH1):c.332C>T (p.Ala111Val) | MLH1 | Likely pathogenic | 3 | 37045917 | 37045917 | C | T | reviewed by expert panel | ClinGen:CA009815,UniProtKB:P40692#VAR_012907 |
| Deletion | NM_000249.4(MLH1):c.341del (p.Thr114fs) | MLH1 | Pathogenic | 3 | 37045926 | 37045926 | AC | A | reviewed by expert panel | ClinGen:CA009826 |
| Deletion | NM_000249.4(MLH1):c.346del (p.Thr116fs) | MLH1 | Pathogenic | 3 | 37045931 | 37045931 | TA | T | reviewed by expert panel | ClinGen:CA009840 |
| Duplication | NM_000249.4(MLH1):c.346dup (p.Thr116fs) | MLH1 | Pathogenic | 3 | 37045930 | 37045931 | T | TA | reviewed by expert panel | ClinGen:CA009833 |
| single nucleotide variant | NM_000249.4(MLH1):c.350C>G (p.Thr117Arg) | MLH1 | Likely pathogenic | 3 | 37045935 | 37045935 | C | G | reviewed by expert panel | ClinGen:CA009864,UniProtKB:P40692#VAR_004446 |
| Duplication | NM_000249.4(MLH1):c.354_355dup (p.Thr119fs) | MLH1 | Pathogenic | 3 | 37045936 | 37045937 | G | GAA | reviewed by expert panel | ClinGen:CA009902 |
| single nucleotide variant | NM_000249.4(MLH1):c.367A>T (p.Lys123Ter) | MLH1 | Pathogenic | 3 | 37045952 | 37045952 | A | T | reviewed by expert panel | ClinGen:CA009925 |
| single nucleotide variant | NM_000249.4(MLH1):c.378C>G (p.Tyr126Ter) | MLH1 | Pathogenic | 3 | 37045963 | 37045963 | C | G | reviewed by expert panel | ClinGen:CA009980 |
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