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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.61del (p.Ala21fs) | MLH1 | Pathogenic | 3 | 37035098 | 37035098 | CG | C | reviewed by expert panel | ClinGen:CA011256 |
| single nucleotide variant | NM_000249.4(MLH1):c.62C>A (p.Ala21Glu) | MLH1 | Pathogenic | 3 | 37035100 | 37035100 | C | A | reviewed by expert panel | ClinGen:CA011283 |
| single nucleotide variant | NM_000249.4(MLH1):c.62C>T (p.Ala21Val) | MLH1 | Pathogenic | 3 | 37035100 | 37035100 | C | T | reviewed by expert panel | ClinGen:CA011295,UniProtKB:P40692#VAR_043384 |
| Insertion | NM_000249.4(MLH1):c.632_633insT (p.Thr212fs) | MLH1 | Pathogenic | 3 | 37053545 | 37053546 | C | CT | reviewed by expert panel | ClinGen:CA011304 |
| Deletion | NM_000249.4(MLH1):c.649del (p.Arg217fs) | MLH1 | Pathogenic | 3 | 37053562 | 37053562 | TC | T | reviewed by expert panel | ClinGen:CA011376 |
| Deletion | NM_000249.4(MLH1):c.665del (p.Asn222fs) | MLH1 | Pathogenic | 3 | 37053576 | 37053576 | GA | G | reviewed by expert panel | ClinGen:CA011446 |
| Duplication | NM_000249.4(MLH1):c.665dup (p.Asn222fs) | MLH1 | Pathogenic | 3 | 37053575 | 37053576 | G | GA | reviewed by expert panel | ClinGen:CA011434 |
| Deletion | NM_000249.4(MLH1):c.672del (p.Ser225fs) | MLH1 | Pathogenic | 3 | 37053584 | 37053584 | GT | G | reviewed by expert panel | ClinGen:CA011457 |
| Deletion | NM_000249.4(MLH1):c.673_676del (p.Ser225fs) | MLH1 | Pathogenic | 3 | 37053586 | 37053589 | TAGTC | T | reviewed by expert panel | ClinGen:CA011469 |
| single nucleotide variant | NM_000249.4(MLH1):c.677+1G>A | MLH1 | Likely pathogenic | 3 | 37053591 | 37053591 | G | A | reviewed by expert panel | ClinGen:CA011519 |
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