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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.15_28del (p.Gly6fs) | MLH1 | Pathogenic | 3 | 37035050 | 37035063 | TGGCAGGGGTTATTC | T | reviewed by expert panel | ClinGen:CA005681 |
| single nucleotide variant | NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter) | MLH1 | Pathogenic | 3 | 37081727 | 37081727 | C | T | reviewed by expert panel | ClinGen:CA006033 |
| single nucleotide variant | NM_000249.4(MLH1):c.1613G>A (p.Trp538Ter) | MLH1 | Pathogenic | 3 | 37081731 | 37081731 | G | A | reviewed by expert panel | ClinGen:CA006106 |
| single nucleotide variant | NM_000249.4(MLH1):c.1614G>A (p.Trp538Ter) | MLH1 | Pathogenic | 3 | 37081732 | 37081732 | G | A | reviewed by expert panel | ClinGen:CA006115 |
| Deletion | NM_000249.4(MLH1):c.161del (p.Gly54fs) | MLH1 | Pathogenic | 3 | 37038152 | 37038152 | AG | A | reviewed by expert panel | ClinGen:CA006129 |
| Deletion | NM_000249.4(MLH1):c.1620_1621del (p.Leu540fs) | MLH1 | Pathogenic | 3 | 37081738 | 37081739 | TGG | T | reviewed by expert panel | ClinGen:CA006136 |
| Deletion | NM_000249.4(MLH1):c.1622del (p.Ala541fs) | MLH1 | Pathogenic | 3 | 37081740 | 37081740 | GC | G | reviewed by expert panel | ClinGen:CA006158 |
| single nucleotide variant | NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter) | MLH1 | Pathogenic | 3 | 37081742 | 37081742 | C | T | reviewed by expert panel | ClinGen:CA006166 |
| single nucleotide variant | NM_000249.4(MLH1):c.1625A>C (p.Gln542Pro) | MLH1 | Likely pathogenic | 3 | 37081743 | 37081743 | A | C | criteria provided, single submitter | UniProtKB:P40692#VAR_043417 |
| Duplication | NM_000249.4(MLH1):c.1639_1643dup (p.Leu549fs) | MLH1 | Pathogenic | 3 | 37081756 | 37081757 | G | GTTATA | reviewed by expert panel | ClinGen:CA330758 |
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