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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.1171C>T (p.Gln391Ter) | MLH1 | Pathogenic | 3 | 37067260 | 37067260 | C | T | reviewed by expert panel | ClinGen:CA004606 |
| Deletion | NM_000249.4(MLH1):c.1190del (p.Leu397fs) | MLH1 | Pathogenic | 3 | 37067279 | 37067279 | CT | C | reviewed by expert panel | ClinGen:CA004662 |
| single nucleotide variant | NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter) | MLH1 | Pathogenic | 3 | 37067281 | 37067281 | C | T | reviewed by expert panel | ClinGen:CA004676 |
| Deletion | NM_000249.4(MLH1):c.119del (p.Cys39_Leu40insTer) | MLH1 | Pathogenic | 3 | 37038110 | 37038110 | GT | G | reviewed by expert panel | ClinGen:CA004691 |
| Deletion | NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs) | MLH1 | Pathogenic | 3 | 37067299 | 37067300 | CCT | C | reviewed by expert panel | ClinGen:CA004717 |
| Duplication | NM_000249.4(MLH1):c.1210dup (p.Leu404fs) | MLH1 | Pathogenic | 3 | 37067295 | 37067296 | A | AC | reviewed by expert panel | ClinGen:CA330685 |
| Duplication | NM_000249.4(MLH1):c.1217_1223dup (p.Gln409fs) | MLH1 | Pathogenic | 3 | 37067305 | 37067306 | A | AGTCAGCC | reviewed by expert panel | ClinGen:CA330686 |
| Deletion | NM_000249.4(MLH1):c.1218del (p.Gln407fs) | MLH1 | Pathogenic | 3 | 37067307 | 37067307 | GT | G | reviewed by expert panel | ClinGen:CA004750 |
| single nucleotide variant | NM_000249.4(MLH1):c.121G>C (p.Asp41His) | MLH1 | Pathogenic | 3 | 37038114 | 37038114 | G | C | reviewed by expert panel | ClinGen:CA004758,UniProtKB:P40692#VAR_054522 |
| single nucleotide variant | NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter) | MLH1 | Pathogenic | 3 | 37067314 | 37067314 | C | T | reviewed by expert panel | ClinGen:CA004765 |
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