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.1024_1038+1del | MLH1 | Pathogenic/Likely pathogenic | 3 | 37061935 | 37061950 | TCCAGGATGTACTTCAC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683307 |
| single nucleotide variant | NM_000249.4(MLH1):c.199G>C (p.Gly67Arg) | MLH1 | Pathogenic | 3 | 37038192 | 37038192 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA352035488 |
| Deletion | NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs) | MSH6 | Pathogenic/Likely pathogenic | 2 | 48033724 | 48033739 | GTTATTCAAAAGGGACA | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683259 |
| Deletion | NM_000535.7(PMS2):c.1970del (p.Asn657fs) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6026426 | 6026426 | AT | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683463 |
| Indel | NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) | PMS2 | Likely pathogenic | 7 | 6037019 | 6037027 | AGGGGGCAG | CTTCACAGCACAGC | criteria provided, single submitter | ClinGen:CA658683474 |
| single nucleotide variant | NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6026487 | 6026487 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA366739308 |
| Deletion | NM_000179.3(MSH6):c.2873_2874del (p.Gln958fs) | MSH6 | Pathogenic | 2 | 48027995 | 48027996 | CAG | C | criteria provided, single submitter | ClinGen:CA658683237 |
| Duplication | NM_000179.3(MSH6):c.3909_3913dup (p.Leu1305fs) | MSH6 | Likely pathogenic | 2 | 48033695 | 48033696 | A | AGCAAG | criteria provided, single submitter | - |
| Deletion | NM_000535.7(PMS2):c.2005del (p.Ser669fs) | PMS2 | Pathogenic | 7 | 6026391 | 6026391 | CT | C | criteria provided, single submitter | ClinGen:CA046194 |
| Duplication | NM_000179.3(MSH6):c.2739_2740dup (p.Thr914fs) | MSH6 | Pathogenic | 2 | 48027859 | 48027860 | G | GAT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658795772 |
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