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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_000249.4(MLH1):c.382_402delinsT (p.Ala128fs) | MLH1 | Pathogenic | 3 | 37048483 | 37048503 | GCAAGTTACTCAGATGGAAAA | T | reviewed by expert panel | ClinGen:CA010118 |
| Deletion | NM_000249.4(MLH1):c.382del (p.Ala128fs) | MLH1 | Pathogenic | 3 | 37048483 | 37048483 | AG | A | reviewed by expert panel | ClinGen:CA010141 |
| Indel | NM_000249.4(MLH1):c.385_386delinsGTT (p.Ser129fs) | MLH1 | Pathogenic | 3 | 37048486 | 37048487 | AG | GTT | reviewed by expert panel | ClinGen:CA010168 |
| single nucleotide variant | NM_000249.4(MLH1):c.388T>C (p.Tyr130His) | MLH1 | Likely pathogenic | 3 | 37048489 | 37048489 | T | C | criteria provided, single submitter | - |
| Deletion | NM_000249.4(MLH1):c.388del (p.Tyr130fs) | MLH1 | Pathogenic | 3 | 37048488 | 37048488 | GT | G | reviewed by expert panel | ClinGen:CA010186 |
| Deletion | NM_000249.4(MLH1):c.389del (p.Tyr130fs) | MLH1 | Pathogenic | 3 | 37048490 | 37048490 | TA | T | reviewed by expert panel | ClinGen:CA010214 |
| Insertion | NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs) | MLH1 | Pathogenic | 3 | 37035075 | 37035076 | G | GACCC | reviewed by expert panel | ClinGen:CA010159 |
| single nucleotide variant | NM_000249.4(MLH1):c.392C>A (p.Ser131Ter) | MLH1 | Pathogenic | 3 | 37048493 | 37048493 | C | A | reviewed by expert panel | ClinGen:CA010223 |
| single nucleotide variant | NM_000249.4(MLH1):c.397G>T (p.Gly133Ter) | MLH1 | Pathogenic | 3 | 37048498 | 37048498 | G | T | reviewed by expert panel | ClinGen:CA010246 |
| single nucleotide variant | NM_000249.4(MLH1):c.3G>A (p.Met1Ile) | MLH1 | Pathogenic | 3 | 37035041 | 37035041 | G | A | reviewed by expert panel | ClinGen:CA010267 |
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