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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.131C>T (p.Ser44Phe) | MLH1 | Pathogenic | 3 | 37038124 | 37038124 | C | T | reviewed by expert panel | ClinGen:CA004973,UniProtKB:P40692#VAR_004436,OMIM:120436.0002 |
| single nucleotide variant | NM_000249.4(MLH1):c.986A>C (p.His329Pro) | MLH1 | Pathogenic | 3 | 37061902 | 37061902 | A | C | reviewed by expert panel | ClinGen:CA013465,UniProtKB:P40692#VAR_012918,OMIM:120436.0008 |
| single nucleotide variant | NM_000249.4(MLH1):c.676C>T (p.Arg226Ter) | MLH1 | Pathogenic | 3 | 37053589 | 37053589 | C | T | reviewed by expert panel | ClinGen:CA011496,OMIM:120436.0010 |
| single nucleotide variant | NM_000249.4(MLH1):c.199G>T (p.Gly67Trp) | MLH1 | Pathogenic | 3 | 37038192 | 37038192 | G | T | reviewed by expert panel | ClinGen:CA008112,UniProtKB:P40692#VAR_012903,OMIM:120436.0011 |
| single nucleotide variant | NM_000249.4(MLH1):c.350C>T (p.Thr117Met) | MLH1 | Pathogenic | 3 | 37045935 | 37045935 | C | T | reviewed by expert panel | UniProtKB:P40692#VAR_004445,OMIM:120436.0017,ClinGen:CA009872 |
| single nucleotide variant | NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser) | MLH1 | Pathogenic | 3 | 37090053 | 37090053 | C | T | reviewed by expert panel | ClinGen:CA007707,UniProtKB:P40692#VAR_022669,OMIM:120436.0020 |
| single nucleotide variant | NM_000249.4(MLH1):c.806C>G (p.Ser269Ter) | MLH1 | Pathogenic | 3 | 37059012 | 37059012 | C | G | reviewed by expert panel | ClinGen:CA012452,OMIM:120436.0021 |
| single nucleotide variant | NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr) | MLH1 | Pathogenic | 3 | 37090446 | 37090446 | G | A | reviewed by expert panel | ClinGen:CA008304,UniProtKB:P40692#VAR_004466,OMIM:120436.0022 |
| Indel | NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn) | MLH1 | Pathogenic | 3 | 37035142 | 37035143 | TG | AC | reviewed by expert panel | ClinGen:CA004169,OMIM:120436.0028 |
| single nucleotide variant | NM_000249.4(MLH1):c.200G>A (p.Gly67Glu) | MLH1 | Pathogenic | 3 | 37038193 | 37038193 | G | A | reviewed by expert panel | ClinGen:CA008188,UniProtKB:P40692#VAR_038024,OMIM:120436.0029 |
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