Knowledge base for genomic medicine in Japanese
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リンチ症候群
腫瘍性疾患
Excelでダウンロード最新の情報は下記 URL でご確認いただけます (外部サイトへ移動します) 。
https://ftp.ncbi.nlm.nih.gov/pub/clinvar/tab_delimited/archive/
表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Deletion | NM_000249.4(MLH1):c.1011del (p.Asn338fs) | MLH1 | Pathogenic | 3 | 37061926 | 37061926 | TC | T | reviewed by expert panel | ClinGen:CA004046 |
| Duplication | NM_000249.4(MLH1):c.1011dup (p.Asn338fs) | MLH1 | Pathogenic | 3 | 37061925 | 37061926 | T | TC | reviewed by expert panel | ClinGen:CA004041 |
| Deletion | NM_000249.4(MLH1):c.1017del (p.Ser340fs) | MLH1 | Pathogenic | 3 | 37061932 | 37061932 | TC | T | reviewed by expert panel | ClinGen:CA004056 |
| Deletion | NM_000249.4(MLH1):c.1023del (p.Met342fs) | MLH1 | Pathogenic | 3 | 37061938 | 37061938 | AG | A | reviewed by expert panel | ClinGen:CA004072 |
| Duplication | NM_000249.4(MLH1):c.1026dup (p.Tyr343fs) | MLH1 | Pathogenic | 3 | 37061941 | 37061942 | T | TG | reviewed by expert panel | ClinGen:CA330640 |
| single nucleotide variant | NM_000249.4(MLH1):c.1037A>G (p.Gln346Arg) | MLH1 | Pathogenic | 3 | 37061953 | 37061953 | A | G | reviewed by expert panel | ClinGen:CA004077 |
| single nucleotide variant | NM_000249.4(MLH1):c.1038+1G>C | MLH1 | Likely pathogenic | 3 | 37061955 | 37061955 | G | C | reviewed by expert panel | ClinGen:CA004088 |
| single nucleotide variant | NM_000249.4(MLH1):c.1038G>A (p.Gln346=) | MLH1 | Pathogenic | 3 | 37061954 | 37061954 | G | A | reviewed by expert panel | ClinGen:CA004100 |
| single nucleotide variant | NM_000249.4(MLH1):c.1038G>C (p.Gln346His) | MLH1 | Pathogenic | 3 | 37061954 | 37061954 | G | C | reviewed by expert panel | ClinGen:CA004104,LOVD 3:MLH1_000409,OMIM:120436.0024 |
| single nucleotide variant | NM_000249.4(MLH1):c.1038G>T (p.Gln346His) | MLH1 | Pathogenic | 3 | 37061954 | 37061954 | G | T | reviewed by expert panel | ClinGen:CA004107 |
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