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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.1640T>A (p.Leu547Ter) | MLH1 | Pathogenic | 3 | 37081758 | 37081758 | T | A | reviewed by expert panel | ClinGen:CA006204 |
| single nucleotide variant | NM_000249.4(MLH1):c.1644C>G (p.Tyr548Ter) | MLH1 | Pathogenic | 3 | 37081762 | 37081762 | C | G | reviewed by expert panel | ClinGen:CA006215 |
| single nucleotide variant | NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro) | MLH1 | Pathogenic | 3 | 37081767 | 37081767 | T | C | reviewed by expert panel | ClinGen:CA006231,UniProtKB:P40692#VAR_043418 |
| single nucleotide variant | NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro) | MLH1 | Likely pathogenic | 3 | 37081782 | 37081782 | T | C | reviewed by expert panel | ClinGen:CA006269 |
| Insertion | NM_000249.4(MLH1):c.1664_1665insAAGT (p.Ser556_Glu557insTer) | MLH1 | Pathogenic | 3 | 37081781 | 37081782 | C | CTAAG | reviewed by expert panel | ClinGen:CA006263 |
| Indel | NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT | MLH1 | Pathogenic | 3 | 37081787 | 37081793 | TAAATCA | ATTT | reviewed by expert panel | ClinGen:CA330773 |
| single nucleotide variant | NM_000249.4(MLH1):c.1667G>T (p.Ser556Ile) | MLH1 | Pathogenic | 3 | 37081785 | 37081785 | G | T | reviewed by expert panel | ClinGen:CA006292 |
| single nucleotide variant | NM_000249.4(MLH1):c.1668-1G>A | MLH1 | Likely pathogenic | 3 | 37083758 | 37083758 | G | A | reviewed by expert panel | ClinGen:CA006307 |
| single nucleotide variant | NM_000249.4(MLH1):c.1668-1G>T | MLH1 | Likely pathogenic | 3 | 37083758 | 37083758 | G | T | reviewed by expert panel | ClinGen:CA006313 |
| single nucleotide variant | NM_000249.4(MLH1):c.1668-3C>A | MLH1 | Likely pathogenic | 3 | 37083756 | 37083756 | C | A | reviewed by expert panel | ClinGen:CA006330 |
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