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) | ||||||||||
| Indel | NM_000179.3(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer) | MSH6 | Likely pathogenic | 2 | 48030742 | 48030744 | AAG | GAT | criteria provided, single submitter | ClinGen:CA645369286 |
| single nucleotide variant | NM_000179.3(MSH6):c.3358G>T (p.Glu1120Ter) | MSH6 | Pathogenic | 2 | 48030744 | 48030744 | G | T | criteria provided, single submitter | ClinGen:CA346758771 |
| single nucleotide variant | NM_000179.3(MSH6):c.3438G>C (p.Gln1146His) | MSH6 | Likely pathogenic | 2 | 48030824 | 48030824 | G | C | criteria provided, single submitter | ClinGen:CA346758973 |
| single nucleotide variant | NM_000179.3(MSH6):c.3439-2A>T | MSH6 | Pathogenic | 2 | 48032047 | 48032047 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA346759882 |
| single nucleotide variant | NM_000179.3(MSH6):c.3452C>A (p.Ala1151Asp) | MSH6 | Likely pathogenic | 2 | 48032062 | 48032062 | C | A | criteria provided, single submitter | ClinGen:CA346759989 |
| Deletion | NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer) | MSH6 | Pathogenic | 2 | 48032087 | 48032087 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369305 |
| Insertion | NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs) | MSH6 | Pathogenic/Likely pathogenic | 2 | 48032123 | 48032124 | T | TAA | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369306 |
| single nucleotide variant | NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter) | MSH6 | Pathogenic | 2 | 48032149 | 48032149 | C | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA071147 |
| single nucleotide variant | NM_000179.3(MSH6):c.3557-1G>C | MSH6 | Pathogenic/Likely pathogenic | 2 | 48032756 | 48032756 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA346760398 |
| Deletion | NM_000179.3(MSH6):c.3577del (p.Glu1193fs) | MSH6 | Pathogenic | 2 | 48032777 | 48032777 | TG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA645369304 |
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