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_000179.3(MSH6):c.4002-1G>A | MSH6 | Likely pathogenic | 2 | 48033917 | 48033917 | G | A | criteria provided, single submitter | ClinGen:CA346761618 |
| single nucleotide variant | NM_000249.4(MLH1):c.589C>T (p.Gln197Ter) | MLH1 | Pathogenic | 3 | 37053502 | 37053502 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA352042295 |
| Duplication | NM_000249.4(MLH1):c.1578_1579dup (p.Asn527fs) | MLH1 | Pathogenic | 3 | 37081694 | 37081695 | C | CAT | criteria provided, single submitter | ClinGen:CA658655773 |
| Deletion | NM_000249.4(MLH1):c.1667+1del | MLH1 | Likely pathogenic | 3 | 37081785 | 37081785 | AG | A | criteria provided, single submitter | ClinGen:CA658655780 |
| single nucleotide variant | NM_000249.4(MLH1):c.1731+4A>G | MLH1 | Pathogenic | 3 | 37083826 | 37083826 | A | G | criteria provided, single submitter | ClinGen:CA658655788 |
| Indel | NM_000249.4(MLH1):c.1304_1305delinsTGCTGAAGTGGCT (p.Pro435fs) | MLH1 | Pathogenic | 3 | 37067393 | 37067394 | CA | TGCTGAAGTGGCT | criteria provided, single submitter | ClinGen:CA658655831 |
| Deletion | NM_000249.4(MLH1):c.997_1000del (p.Lys333fs) | MLH1 | Pathogenic | 3 | 37061910 | 37061913 | GAGCA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655818 |
| single nucleotide variant | NM_000249.4(MLH1):c.1883T>A (p.Leu628Ter) | MLH1 | Pathogenic | 3 | 37089161 | 37089161 | T | A | criteria provided, single submitter | ClinGen:CA352065333 |
| single nucleotide variant | NM_000249.4(MLH1):c.1315G>T (p.Glu439Ter) | MLH1 | Pathogenic | 3 | 37067404 | 37067404 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA352053420 |
| single nucleotide variant | NM_000249.4(MLH1):c.1943C>G (p.Pro648Arg) | MLH1 | Likely pathogenic | 3 | 37090054 | 37090054 | C | G | criteria provided, single submitter | ClinGen:CA352065742 |
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