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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.2135G>A (p.Trp712Ter) | MLH1 | Pathogenic | 3 | 37092008 | 37092008 | G | A | reviewed by expert panel | ClinGen:CA008833 |
| single nucleotide variant | NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter) | MLH1 | Pathogenic | 3 | 37092009 | 37092009 | G | A | reviewed by expert panel | ClinGen:CA008842 |
| single nucleotide variant | NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter) | MLH1 | Pathogenic | 3 | 37092014 | 37092014 | G | A | reviewed by expert panel | ClinGen:CA008850 |
| Duplication | NM_000249.4(MLH1):c.2149_2195dup (p.His733fs) | MLH1 | Pathogenic | 3 | 37092021 | 37092022 | G | GGAACACATTGTCTATAAAGCCTTGCGCTCACACATTCTGCCTCCTAA | reviewed by expert panel | ClinGen:CA330922 |
| single nucleotide variant | NM_000249.4(MLH1):c.2153A>C (p.His718Pro) | MLH1 | Likely pathogenic | 3 | 37092026 | 37092026 | A | C | reviewed by expert panel | ClinGen:CA008900 |
| Duplication | NM_000249.4(MLH1):c.2157dup (p.Val720fs) | MLH1 | Pathogenic | 3 | 37092028 | 37092029 | A | AT | reviewed by expert panel | ClinGen:CA330927 |
| single nucleotide variant | NM_000249.4(MLH1):c.2163T>A (p.Tyr721Ter) | MLH1 | Pathogenic | 3 | 37092036 | 37092036 | T | A | reviewed by expert panel | ClinGen:CA008969 |
| single nucleotide variant | NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter) | MLH1 | Pathogenic | 3 | 37092067 | 37092067 | A | T | reviewed by expert panel | ClinGen:CA009077 |
| Duplication | NM_000249.4(MLH1):c.2195_2198dup (p.His733fs) | MLH1 | Pathogenic | 3 | 37092066 | 37092067 | T | TAAAC | reviewed by expert panel | ClinGen:CA009089 |
| Duplication | NM_000249.4(MLH1):c.2218dup (p.Ile740fs) | MLH1 | Pathogenic | 3 | 37092090 | 37092091 | T | TA | reviewed by expert panel | ClinGen:CA330943 |
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