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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) | ||||||||||
| Deletion | NM_000249.4(MLH1):c.1050del (p.Gly351fs) | MLH1 | Pathogenic | 3 | 37067139 | 37067139 | CA | C | reviewed by expert panel | ClinGen:CA004219 |
| Deletion | NM_000249.4(MLH1):c.1061del (p.Gly354fs) | MLH1 | Pathogenic | 3 | 37067149 | 37067149 | TG | T | reviewed by expert panel | ClinGen:CA004233 |
| Deletion | NM_000249.4(MLH1):c.1071_1078del (p.Gly357_Glu358insTer) | MLH1 | Pathogenic | 3 | 37067157 | 37067164 | CTGGGGAGA | C | reviewed by expert panel | ClinGen:CA004256 |
| Deletion | NM_000249.4(MLH1):c.1072del (p.Glu358fs) | MLH1 | Pathogenic | 3 | 37067158 | 37067158 | TG | T | reviewed by expert panel | ClinGen:CA004268 |
| single nucleotide variant | NM_000249.4(MLH1):c.109G>A (p.Glu37Lys) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37035147 | 37035147 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA004328,UniProtKB:P40692#VAR_076339 |
| single nucleotide variant | NM_000249.4(MLH1):c.109G>T (p.Glu37Ter) | MLH1 | Pathogenic | 3 | 37035147 | 37035147 | G | T | reviewed by expert panel | ClinGen:CA004335 |
| Deletion | NM_000249.4(MLH1):c.1101del (p.Ser368fs) | MLH1 | Pathogenic | 3 | 37067189 | 37067189 | AC | A | reviewed by expert panel | ClinGen:CA004346 |
| Duplication | NM_000249.4(MLH1):c.1128_1129dup (p.Lys377fs) | MLH1 | Pathogenic | 3 | 37067215 | 37067216 | G | GAT | reviewed by expert panel | ClinGen:CA330661 |
| single nucleotide variant | NM_000249.4(MLH1):c.112A>C (p.Asn38His) | MLH1 | Pathogenic | 3 | 37035150 | 37035150 | A | C | reviewed by expert panel | ClinGen:CA004399,UniProtKB:P40692#VAR_043389 |
| Indel | NM_000249.4(MLH1):c.1132_1134delinsA (p.Val378fs) | MLH1 | Pathogenic | 3 | 37067221 | 37067223 | GTC | A | reviewed by expert panel | ClinGen:CA004414 |
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