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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.230G>A (p.Cys77Tyr) | MLH1 | Pathogenic | 3 | 37042468 | 37042468 | G | A | reviewed by expert panel | ClinGen:CA009334,UniProtKB:P40692#VAR_012904 |
| Deletion | NM_000249.4(MLH1):c.232del (p.Glu78fs) | MLH1 | Pathogenic | 3 | 37042470 | 37042470 | TG | T | reviewed by expert panel | ClinGen:CA009357 |
| single nucleotide variant | NM_000249.4(MLH1):c.238T>G (p.Phe80Val) | MLH1 | Likely pathogenic | 3 | 37042476 | 37042476 | T | G | reviewed by expert panel | ClinGen:CA009371,UniProtKB:P40692#VAR_012905 |
| single nucleotide variant | NM_000249.4(MLH1):c.244A>G (p.Thr82Ala) | MLH1 | Likely pathogenic | 3 | 37042482 | 37042482 | A | G | reviewed by expert panel | ClinGen:CA009402 |
| Duplication | NM_000249.4(MLH1):c.244dup (p.Thr82fs) | MLH1 | Pathogenic | 3 | 37042481 | 37042482 | T | TA | reviewed by expert panel | ClinGen:CA009395 |
| single nucleotide variant | NM_000249.4(MLH1):c.245C>T (p.Thr82Ile) | MLH1 | Pathogenic | 3 | 37042483 | 37042483 | C | T | reviewed by expert panel | ClinGen:CA009423 |
| single nucleotide variant | NM_000249.4(MLH1):c.250A>G (p.Lys84Glu) | MLH1 | Likely pathogenic | 3 | 37042488 | 37042488 | A | G | reviewed by expert panel | UniProtKB:P40692#VAR_012906,ClinGen:CA009442 |
| single nucleotide variant | NM_000249.4(MLH1):c.256C>T (p.Gln86Ter) | MLH1 | Pathogenic | 3 | 37042494 | 37042494 | C | T | reviewed by expert panel | ClinGen:CA009451 |
| Deletion | NM_000249.4(MLH1):c.261del (p.Phe88fs) | MLH1 | Pathogenic | 3 | 37042498 | 37042498 | TC | T | reviewed by expert panel | ClinGen:CA009467 |
| single nucleotide variant | NM_000249.4(MLH1):c.265G>T (p.Glu89Ter) | MLH1 | Pathogenic | 3 | 37042503 | 37042503 | G | T | reviewed by expert panel | ClinGen:CA009474 |
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