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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) | ||||||||||
| Insertion | NM_000249.4(MLH1):c.1785_1786insCCAGATAGTCCAGA (p.Gly596fs) | MLH1 | Pathogenic | 3 | 37089063 | 37089064 | T | TCCAGATAGTCCAGA | criteria provided, single submitter | ClinGen:CA658655791 |
| single nucleotide variant | NM_000249.4(MLH1):c.116+1G>T | MLH1 | Pathogenic/Likely pathogenic | 3 | 37035155 | 37035155 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA352061270 |
| Indel | NM_000249.4(MLH1):c.2104-1_2104delinsTCTTATGACATCTAAT | MLH1 | Likely pathogenic | 3 | 37091976 | 37091977 | GA | TCTTATGACATCTAAT | criteria provided, single submitter | ClinGen:CA658655804 |
| Duplication | NM_000249.4(MLH1):c.404dup (p.Lys136fs) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37048504 | 37048505 | C | CT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655781 |
| Deletion | NM_000249.4(MLH1):c.940del (p.Val314fs) | MLH1 | Pathogenic | 3 | 37061856 | 37061856 | AG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655815 |
| single nucleotide variant | NM_000249.4(MLH1):c.979C>T (p.Gln327Ter) | MLH1 | Pathogenic | 3 | 37061895 | 37061895 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA352049273 |
| single nucleotide variant | NM_000249.4(MLH1):c.1410-2A>G | MLH1 | Likely pathogenic | 3 | 37070273 | 37070273 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA028698 |
| Insertion | NM_000249.4(MLH1):c.1489_1490insCG (p.Arg497fs) | MLH1 | Pathogenic | 3 | 37070354 | 37070355 | C | CCG | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655839 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1181G>A (p.Cys394Tyr) | TGFBR2 | Likely pathogenic | 3 | 30713856 | 30713856 | G | A | criteria provided, single submitter | ClinGen:CA351808708 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1259G>T (p.Gly420Val) | TGFBR2 | Likely pathogenic | 3 | 30715601 | 30715601 | G | T | criteria provided, single submitter | ClinGen:CA351808880 |
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