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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.1896G>A (p.Glu632=) | MLH1 | Pathogenic | 3 | 37089174 | 37089174 | G | A | reviewed by expert panel | ClinGen:CA007444 |
| single nucleotide variant | NM_000249.4(MLH1):c.1897-2A>G | MLH1 | Likely pathogenic | 3 | 37090006 | 37090006 | A | G | reviewed by expert panel | ClinGen:CA007469 |
| single nucleotide variant | NM_000249.4(MLH1):c.189C>A (p.Asp63Glu) | MLH1 | Pathogenic | 3 | 37038182 | 37038182 | C | A | reviewed by expert panel | ClinGen:CA007476,UniProtKB:P40692#VAR_043392 |
| Deletion | NM_000249.4(MLH1):c.18_34del (p.Val7fs) | MLH1 | Pathogenic | 3 | 37035054 | 37035070 | AGGGGTTATTCGGCGGCT | A | reviewed by expert panel | ClinGen:CA007048 |
| Deletion | NM_000249.4(MLH1):c.1902del (p.Asn635fs) | MLH1 | Pathogenic | 3 | 37090011 | 37090011 | AG | A | reviewed by expert panel | ClinGen:CA007521 |
| Duplication | NM_000249.4(MLH1):c.1904dup (p.Asn635fs) | MLH1 | Pathogenic | 3 | 37090013 | 37090014 | G | GA | reviewed by expert panel | ClinGen:CA330844 |
| Deletion | NM_000249.4(MLH1):c.190_191del (p.Asn64fs) | MLH1 | Pathogenic | 3 | 37038183 | 37038184 | CAA | C | reviewed by expert panel | ClinGen:CA007495 |
| Duplication | NM_000249.4(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer) | MLH1 | Pathogenic | 3 | 37090021 | 37090022 | T | TTGGATTACCCCTTC | reviewed by expert panel | ClinGen:CA248528 |
| Duplication | NM_000249.4(MLH1):c.1914_1942dup (p.Pro648delinsHisTyrProPheTer) | MLH1 | Pathogenic | 3 | 37090024 | 37090025 | G | GATTACCCCTTCTGATTGACAACTATGTGC | reviewed by expert panel | ClinGen:CA330848 |
| Duplication | NM_000249.4(MLH1):c.1916dup (p.Leu639fs) | MLH1 | Pathogenic | 3 | 37090025 | 37090026 | A | AT | reviewed by expert panel | ClinGen:CA330849 |
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