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_000179.3(MSH6):c.1108_1109del (p.Leu370fs) | MSH6 | Pathogenic/Likely pathogenic | 2 | 48026229 | 48026230 | CTT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA008050 |
| Deletion | NM_000535.7(PMS2):c.1185del (p.Met396fs) | PMS2 | Pathogenic | 7 | 6027211 | 6027211 | TG | T | criteria provided, single submitter | ClinGen:CA009283 |
| Deletion | NM_000251.3(MSH2):c.1278_1386+1del | MSH2 | Pathogenic | 2 | 47672685 | 47672794 | TAGGAAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATC | T | criteria provided, single submitter | ClinGen:CA273852 |
| single nucleotide variant | NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter) | MSH2 | Pathogenic/Likely pathogenic | 2 | 47702388 | 47702388 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA019647 |
| single nucleotide variant | NM_000249.4(MLH1):c.791-1G>A | MLH1 | Pathogenic/Likely pathogenic | 3 | 37058996 | 37058996 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012269 |
| Deletion | NM_001040108.2(MLH3):c.2116del (p.Thr706fs) | MLH3 | Likely pathogenic | 14 | 75514243 | 75514243 | GT | G | criteria provided, single submitter | ClinGen:CA204588 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.998T>A (p.Leu333Gln) | TGFBR2 | Likely pathogenic | 3 | 30713673 | 30713673 | T | A | criteria provided, single submitter | ClinGen:CA324102 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1120C>T (p.Pro374Ser) | TGFBR2 | Likely pathogenic | 3 | 30713795 | 30713795 | C | T | criteria provided, single submitter | ClinGen:CA320627 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1255G>T (p.Val419Leu) | TGFBR2 | Likely pathogenic | 3 | 30715597 | 30715597 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA322630 |
| single nucleotide variant | NM_003242.6(TGFBR2):c.1256T>A (p.Val419Glu) | TGFBR2 | Likely pathogenic | 3 | 30715598 | 30715598 | T | A | criteria provided, single submitter | ClinGen:CA324927 |
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