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) | ||||||||||
| single nucleotide variant | NM_000249.4(MLH1):c.931A>G (p.Lys311Glu) | MLH1 | Likely pathogenic | 3 | 37061847 | 37061847 | A | G | reviewed by expert panel | ClinGen:CA10578235 |
| Deletion | NM_000249.4(MLH1):c.970del (p.Glu324fs) | MLH1 | Pathogenic | 3 | 37061885 | 37061885 | TG | T | criteria provided, single submitter | ClinGen:CA10578237 |
| Deletion | NM_000249.4(MLH1):c.1036del (p.Gln346fs) | MLH1 | Pathogenic | 3 | 37061950 | 37061950 | AC | A | criteria provided, single submitter | ClinGen:CA10578241 |
| Deletion | NM_000249.4(MLH1):c.1090del (p.Thr364fs) | MLH1 | Pathogenic | 3 | 37067178 | 37067178 | CA | C | criteria provided, single submitter | ClinGen:CA10578242 |
| Deletion | NM_000249.4(MLH1):c.1522_1523del (p.Leu509fs) | MLH1 | Pathogenic | 3 | 37070386 | 37070387 | TGA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578255 |
| Deletion | NM_000249.4(MLH1):c.1656del (p.Thr553fs) | MLH1 | Pathogenic | 3 | 37081773 | 37081773 | AC | A | criteria provided, single submitter | ClinGen:CA10578258 |
| Deletion | NM_000249.4(MLH1):c.1746del (p.Phe583fs) | MLH1 | Pathogenic | 3 | 37089024 | 37089024 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578262 |
| single nucleotide variant | NM_000249.4(MLH1):c.2041G>C (p.Ala681Pro) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37090446 | 37090446 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578272 |
| Insertion | NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37090475 | 37090476 | C | CTT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578273 |
| single nucleotide variant | NM_000249.4(MLH1):c.2206G>T (p.Glu736Ter) | MLH1 | Pathogenic | 3 | 37092079 | 37092079 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10578280 |
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