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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.1039-2A>C | MLH1 | Pathogenic | 3 | 37067126 | 37067126 | A | C | criteria provided, single submitter | ClinGen:CA16611328 |
| Deletion | NM_000249.4(MLH1):c.268del (p.Asp90fs) | MLH1 | Pathogenic | 3 | 37042505 | 37042505 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16611400 |
| Deletion | NM_000249.4(MLH1):c.1043del (p.Leu348fs) | MLH1 | Pathogenic | 3 | 37067130 | 37067130 | CT | C | criteria provided, single submitter | ClinGen:CA16611413 |
| Deletion | NM_000249.4(MLH1):c.1072_1078del (p.Glu358fs) | MLH1 | Pathogenic | 3 | 37067159 | 37067165 | GGGGAGAT | G | criteria provided, single submitter | ClinGen:CA16611415 |
| Duplication | NM_000249.4(MLH1):c.1853dup (p.Ala619fs) | MLH1 | Pathogenic | 3 | 37089129 | 37089130 | G | GA | criteria provided, single submitter | ClinGen:CA16611425 |
| Deletion | NC_000007.14:g.(?_5991973)_(6006031_?)del | PMS2 | Pathogenic | 7 | 6031604 | 6045662 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5991973)_(6009106_?)del | PMS2 | Pathogenic | 7 | 6031604 | 6048737 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5997326)_(6004058_?)del | PMS2 | Pathogenic | 7 | 6036957 | 6043689 | na | na | criteria provided, single submitter | - |
| Deletion | NC_000007.14:g.(?_5991973)_(5999275_?)del | PMS2 | Pathogenic | 7 | 6031604 | 6038906 | na | na | criteria provided, single submitter | - |
| single nucleotide variant | NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6027048 | 6027048 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16612130 |
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