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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.791-5T>G | MLH1 | Pathogenic | 3 | 37058992 | 37058992 | T | G | reviewed by expert panel | ClinGen:CA012320 |
| single nucleotide variant | NM_000249.4(MLH1):c.791-7T>A | MLH1 | Likely pathogenic | 3 | 37058990 | 37058990 | T | A | reviewed by expert panel | ClinGen:CA012354 |
| Deletion | NM_001354621.2(MLH1):c.-139-2804_-139-2801del | MLH1 | Pathogenic | 3 | 37058996 | 37058999 | AGATC | A | reviewed by expert panel | ClinGen:CA012329 |
| single nucleotide variant | NM_000249.4(MLH1):c.793C>A (p.Arg265Ser) | MLH1 | Pathogenic | 3 | 37058999 | 37058999 | C | A | reviewed by expert panel | ClinGen:CA012384,UniProtKB:P40692#VAR_076344 |
| Deletion | NM_000249.4(MLH1):c.808_811del (p.Thr270fs) | MLH1 | Pathogenic | 3 | 37059014 | 37059017 | AACTT | A | reviewed by expert panel | ClinGen:CA012462 |
| Deletion | NM_000249.4(MLH1):c.811_815del (p.Ser271fs) | MLH1 | Pathogenic | 3 | 37059016 | 37059020 | CTTCCT | C | reviewed by expert panel | ClinGen:CA012484 |
| Duplication | NM_000249.4(MLH1):c.821_824dup (p.Ile276fs) | MLH1 | Pathogenic | 3 | 37059026 | 37059027 | A | AAAGC | reviewed by expert panel | ClinGen:CA012526 |
| single nucleotide variant | NM_000249.4(MLH1):c.83C>T (p.Pro28Leu) | MLH1 | Pathogenic | 3 | 37035121 | 37035121 | C | T | reviewed by expert panel | ClinGen:CA012549,UniProtKB:P40692#VAR_004433 |
| single nucleotide variant | NM_000249.4(MLH1):c.840T>A (p.Tyr280Ter) | MLH1 | Pathogenic | 3 | 37059046 | 37059046 | T | A | reviewed by expert panel | ClinGen:CA012563 |
| single nucleotide variant | NM_000249.4(MLH1):c.842C>T (p.Ala281Val) | MLH1 | Pathogenic | 3 | 37059048 | 37059048 | C | T | reviewed by expert panel | ClinGen:CA012571 |
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