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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) | ||||||||||
| Duplication | NM_000249.4(MLH1):c.1829_1832dup (p.Val612fs) | MLH1 | Pathogenic | 3 | 37089104 | 37089105 | A | AATAC | reviewed by expert panel | ClinGen:CA330820 |
| Deletion | NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs) | MLH1 | Pathogenic | 3 | 37089109 | 37089110 | CAT | C | reviewed by expert panel | ClinGen:CA007032 |
| single nucleotide variant | NM_000249.4(MLH1):c.184C>T (p.Gln62Ter) | MLH1 | Pathogenic | 3 | 37038177 | 37038177 | C | T | reviewed by expert panel | ClinGen:CA007117 |
| single nucleotide variant | NM_000249.4(MLH1):c.1852A>T (p.Lys618Ter) | MLH1 | Pathogenic | 3 | 37089130 | 37089130 | A | T | reviewed by expert panel | ClinGen:CA007164 |
| Indel | NM_000249.4(MLH1):c.1853delinsTTCTT (p.Lys618fs) | MLH1 | Pathogenic | 3 | 37089131 | 37089131 | A | TTCTT | reviewed by expert panel | ClinGen:CA330828 |
| single nucleotide variant | NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro) | MLH1 | Likely pathogenic | 3 | 37089133 | 37089133 | G | C | reviewed by expert panel | ClinGen:CA007222,UniProtKB:P40692#VAR_054535 |
| Deletion | NM_000249.4(MLH1):c.1855del (p.Ala619fs) | MLH1 | Pathogenic | 3 | 37089132 | 37089132 | AG | A | reviewed by expert panel | ClinGen:CA007214 |
| single nucleotide variant | NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro) | MLH1 | Pathogenic | 3 | 37089143 | 37089143 | T | C | reviewed by expert panel | ClinGen:CA007245 |
| Deletion | NM_000249.4(MLH1):c.1866del (p.Ala623fs) | MLH1 | Pathogenic | 3 | 37089143 | 37089143 | CT | C | reviewed by expert panel | ClinGen:CA007254 |
| single nucleotide variant | NM_000249.4(MLH1):c.1875T>G (p.Tyr625Ter) | MLH1 | Pathogenic | 3 | 37089153 | 37089153 | T | G | reviewed by expert panel | ClinGen:CA007270 |
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