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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) | ||||||||||
| single nucleotide variant | NM_000249.4(MLH1):c.1559-2A>T | MLH1 | Pathogenic | 3 | 37081675 | 37081675 | A | T | reviewed by expert panel | ClinGen:CA005913 |
| Deletion | NM_000249.3(MLH1):c.1559-?_(*193_?)del | MLH1 | Pathogenic | 3 | 37081677 | 37092337 | na | na | reviewed by expert panel | - |
| Deletion | NM_000249.4(MLH1):c.155_158del (p.Lys52fs) | MLH1 | Pathogenic | 3 | 37038147 | 37038150 | TAAAG | T | reviewed by expert panel | ClinGen:CA005738 |
| Deletion | NM_000249.4(MLH1):c.156del (p.Glu53fs) | MLH1 | Pathogenic | 3 | 37038147 | 37038147 | TA | T | reviewed by expert panel | ClinGen:CA005951 |
| Duplication | NM_000249.4(MLH1):c.156dup (p.Glu53fs) | MLH1 | Pathogenic | 3 | 37038146 | 37038147 | T | TA | reviewed by expert panel | ClinGen:CA005931 |
| Deletion | NM_000249.4(MLH1):c.1572_1573del (p.Met524fs) | MLH1 | Pathogenic | 3 | 37081689 | 37081690 | ATG | A | reviewed by expert panel | ClinGen:CA005959 |
| Deletion | NM_000249.4(MLH1):c.1573_1574del (p.Leu525fs) | MLH1 | Pathogenic | 3 | 37081691 | 37081692 | GTT | G | reviewed by expert panel | ClinGen:CA005983 |
| single nucleotide variant | NM_000249.4(MLH1):c.1574T>A (p.Leu525Ter) | MLH1 | Pathogenic | 3 | 37081692 | 37081692 | T | A | reviewed by expert panel | ClinGen:CA005996 |
| Deletion | NM_000249.4(MLH1):c.1588_1590del (p.Phe530del) | MLH1 | Pathogenic | 3 | 37081705 | 37081707 | CCTT | C | reviewed by expert panel | ClinGen:CA006002 |
| Deletion | NM_000249.4(MLH1):c.1592_1593del (p.Val531fs) | MLH1 | Pathogenic | 3 | 37081709 | 37081710 | CGT | C | reviewed by expert panel | ClinGen:CA006021 |
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