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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) | ||||||||||
| Deletion | NM_000249.4(MLH1):c.84del (p.Ala29fs) | MLH1 | Pathogenic | 3 | 37035122 | 37035122 | CA | C | reviewed by expert panel | ClinGen:CA012606 |
| single nucleotide variant | NM_000249.4(MLH1):c.851T>A (p.Leu284Ter) | MLH1 | Pathogenic | 3 | 37059057 | 37059057 | T | A | reviewed by expert panel | ClinGen:CA012616 |
| Insertion | NM_000249.4(MLH1):c.856_857insT (p.Lys286fs) | MLH1 | Pathogenic | 3 | 37059062 | 37059063 | A | AT | reviewed by expert panel | ClinGen:CA012628 |
| Deletion | NM_000249.4(MLH1):c.859_860del (p.Asn287fs) | MLH1 | Pathogenic | 3 | 37059062 | 37059063 | CAA | C | reviewed by expert panel | ClinGen:CA012646 |
| Deletion | NM_000249.4(MLH1):c.860del (p.Asn287fs) | MLH1 | Pathogenic | 3 | 37059062 | 37059062 | CA | C | reviewed by expert panel | ClinGen:CA012687 |
| Duplication | NM_000249.4(MLH1):c.860dup (p.Asn287fs) | MLH1 | Pathogenic | 3 | 37059061 | 37059062 | C | CA | reviewed by expert panel | ClinGen:CA012671 |
| single nucleotide variant | NM_000249.4(MLH1):c.86C>G (p.Ala29Gly) | MLH1 | Pathogenic | 3 | 37035124 | 37035124 | C | G | reviewed by expert panel | ClinGen:CA012745 |
| single nucleotide variant | NM_000249.4(MLH1):c.875T>C (p.Leu292Pro) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37059081 | 37059081 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA012754,UniProtKB:P40692#VAR_043404 |
| single nucleotide variant | NM_000249.4(MLH1):c.882C>T (p.Leu294=) | MLH1 | Pathogenic | 3 | 37059088 | 37059088 | C | T | reviewed by expert panel | ClinGen:CA012784 |
| single nucleotide variant | NM_000249.4(MLH1):c.883A>C (p.Ser295Arg) | MLH1 | Pathogenic | 3 | 37059089 | 37059089 | A | C | reviewed by expert panel | ClinGen:CA012793 |
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