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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.208-1G>A | MLH1 | Pathogenic | 3 | 37042445 | 37042445 | G | A | reviewed by expert panel | ClinGen:CA008505 |
| Deletion | NM_000249.4(MLH1):c.208-1_208del | MLH1 | Pathogenic | 3 | 37042444 | 37042445 | CAG | C | reviewed by expert panel | ClinGen:CA330906 |
| single nucleotide variant | NM_000249.4(MLH1):c.208-2A>G | MLH1 | Pathogenic | 3 | 37042444 | 37042444 | A | G | reviewed by expert panel | ClinGen:CA008517 |
| single nucleotide variant | NM_000249.4(MLH1):c.208-3C>G | MLH1 | Likely pathogenic | 3 | 37042443 | 37042443 | C | G | reviewed by expert panel | ClinGen:CA008526 |
| Deletion | NM_000249.3(MLH1):c.(207+1_208-1)_(545+1_546-1)del (p.Lys70Valfs) | MLH1 | Pathogenic | 3 | 37038201 | 37053310 | na | na | reviewed by expert panel | LOVD 3:MLH1_001613 |
| single nucleotide variant | NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter) | MLH1 | Pathogenic | 3 | 37090489 | 37090489 | C | A | reviewed by expert panel | ClinGen:CA008537 |
| single nucleotide variant | NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter) | MLH1 | Pathogenic | 3 | 37090498 | 37090498 | C | G | reviewed by expert panel | ClinGen:CA008574 |
| Deletion | NM_000249.4(MLH1):c.2099_2102del (p.Gln700fs) | MLH1 | Pathogenic | 3 | 37090504 | 37090507 | CAGCA | C | reviewed by expert panel | ClinGen:CA008586 |
| single nucleotide variant | NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter) | MLH1 | Pathogenic | 3 | 37090506 | 37090506 | C | T | reviewed by expert panel | ClinGen:CA008607 |
| single nucleotide variant | NM_000249.4(MLH1):c.2103+1G>A | MLH1 | Pathogenic | 3 | 37090509 | 37090509 | G | A | reviewed by expert panel | ClinGen:CA008626 |
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