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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.292G>A (p.Gly98Ser) | MLH1 | Likely pathogenic | 3 | 37042530 | 37042530 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA009543,UniProtKB:P40692#VAR_054523 |
| Deletion | NM_000249.4(MLH1):c.293_304del (p.Gly98_Gly101del) | MLH1 | Likely pathogenic | 3 | 37042529 | 37042540 | ATGGCTTTCGAGG | A | reviewed by expert panel | ClinGen:CA009557 |
| single nucleotide variant | NM_000249.4(MLH1):c.299G>C (p.Arg100Pro) | MLH1 | Pathogenic | 3 | 37042537 | 37042537 | G | C | reviewed by expert panel | ClinGen:CA009587 |
| single nucleotide variant | NM_000249.4(MLH1):c.2T>A (p.Met1Lys) | MLH1 | Pathogenic | 3 | 37035040 | 37035040 | T | A | reviewed by expert panel | ClinGen:CA009594 |
| single nucleotide variant | NM_000249.4(MLH1):c.2T>C (p.Met1Thr) | MLH1 | Pathogenic | 3 | 37035040 | 37035040 | T | C | reviewed by expert panel | ClinGen:CA009600 |
| single nucleotide variant | NM_000249.4(MLH1):c.2T>G (p.Met1Arg) | MLH1 | Pathogenic | 3 | 37035040 | 37035040 | T | G | reviewed by expert panel | ClinGen:CA009606 |
| single nucleotide variant | NM_000249.4(MLH1):c.301G>A (p.Gly101Ser) | MLH1 | Likely pathogenic | 3 | 37042539 | 37042539 | G | A | reviewed by expert panel | ClinGen:CA009611,UniProtKB:P40692#VAR_054524 |
| single nucleotide variant | NM_000249.4(MLH1):c.302G>A (p.Gly101Asp) | MLH1 | Likely pathogenic | 3 | 37042540 | 37042540 | G | A | reviewed by expert panel | ClinGen:CA009617,UniProtKB:P40692#VAR_022664 |
| single nucleotide variant | NM_000249.4(MLH1):c.304G>A (p.Glu102Lys) | MLH1 | Likely pathogenic | 3 | 37042542 | 37042542 | G | A | reviewed by expert panel | ClinGen:CA009641,UniProtKB:P40692#VAR_043394 |
| single nucleotide variant | NM_000249.4(MLH1):c.306+1G>A | MLH1 | Pathogenic | 3 | 37042545 | 37042545 | G | A | reviewed by expert panel | ClinGen:CA009647 |
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