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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) | ||||||||||
| Indel | NM_000249.3(MLH1):c.2221_2224delCTGCins30 (p.?) | MLH1 | Pathogenic | 3 | 37092094 | 37092097 | na | na | reviewed by expert panel | - |
| Deletion | NM_000249.4(MLH1):c.2223_2233del (p.Gln742fs) | MLH1 | Pathogenic | 3 | 37092096 | 37092106 | TGCAGCTTGCTA | T | reviewed by expert panel | ClinGen:CA009138 |
| single nucleotide variant | NM_000249.4(MLH1):c.2224C>T (p.Gln742Ter) | MLH1 | Pathogenic | 3 | 37092097 | 37092097 | C | T | reviewed by expert panel | ClinGen:CA009163 |
| Deletion | NM_000249.4(MLH1):c.2224del (p.Gln742fs) | MLH1 | Pathogenic | 3 | 37092097 | 37092097 | GC | G | reviewed by expert panel | ClinGen:CA009172 |
| single nucleotide variant | NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro) | MLH1 | Pathogenic | 3 | 37092119 | 37092119 | T | C | reviewed by expert panel | ClinGen:CA009197,UniProtKB:P40692#VAR_043437 |
| Deletion | NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs) | MLH1 | Pathogenic | 3 | 37092124 | 37092125 | CAA | C | reviewed by expert panel | ClinGen:CA009237 |
| Duplication | NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) | MLH1 | Pathogenic | 3 | 37092138 | 37092139 | G | GTGTT | reviewed by expert panel | ClinGen:CA248502 |
| Duplication | NM_000249.4(MLH1):c.2269dup (p.Ter757LeuextTer?) | MLH1 | Pathogenic | 3 | 37092140 | 37092141 | G | GT | reviewed by expert panel | ClinGen:CA009304 |
| single nucleotide variant | NM_000249.4(MLH1):c.229T>C (p.Cys77Arg) | MLH1 | Pathogenic | 3 | 37042467 | 37042467 | T | C | reviewed by expert panel | ClinGen:CA009324,UniProtKB:P40692#VAR_004442 |
| Duplication | NM_000249.4(MLH1):c.22dup (p.Ile8fs) | MLH1 | Pathogenic | 3 | 37035059 | 37035060 | T | TA | reviewed by expert panel | ClinGen:CA330961 |
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