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_000535.7(PMS2):c.240del (p.Phe80fs) | PMS2 | Pathogenic | 7 | 6043613 | 6043613 | CG | C | criteria provided, single submitter | ClinGen:CA658657656 |
| Deletion | NM_000535.7(PMS2):c.1181del (p.Lys394fs) | PMS2 | Pathogenic | 7 | 6027215 | 6027215 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655983 |
| single nucleotide variant | NM_000535.7(PMS2):c.164-1G>A | PMS2 | Likely pathogenic | 7 | 6043690 | 6043690 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA044881 |
| Insertion | NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) | PMS2 | Pathogenic | 7 | 6045523 | 6045524 | C | CAATT | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657658 |
| Indel | NM_000535.7(PMS2):c.922_933delinsA (p.Glu308fs) | PMS2 | Pathogenic/Likely pathogenic | 7 | 6031659 | 6031670 | GTGGTAGACCTC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655992 |
| single nucleotide variant | NM_000535.7(PMS2):c.535A>T (p.Lys179Ter) | PMS2 | Pathogenic | 7 | 6042086 | 6042086 | T | A | criteria provided, single submitter | ClinGen:CA366744151 |
| single nucleotide variant | NM_000535.7(PMS2):c.383C>A (p.Ser128Ter) | PMS2 | Pathogenic | 7 | 6042238 | 6042238 | G | T | criteria provided, single submitter | ClinGen:CA366744457 |
| Duplication | NM_000179.3(MSH6):c.125_132dup (p.Gly45fs) | MSH6 | Pathogenic/Likely pathogenic | 2 | 48010496 | 48010497 | C | CCTTCCCCA | criteria provided, multiple submitters, no conflicts | ClinGen:CA658657035 |
| Deletion | NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs) | MSH6 | Likely pathogenic | 2 | 48033449 | 48033459 | CATTAGTAGAAG | C | criteria provided, single submitter | ClinGen:CA658655736 |
| Deletion | NM_000249.4(MLH1):c.325del (p.His109fs) | MLH1 | Pathogenic/Likely pathogenic | 3 | 37045909 | 37045909 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658655767 |
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