Knowledge base for genomic medicine in Japanese
キーワードを入力してMGenReviewsサイト内を検索できます。
MUTYH関連ポリポーシス
腫瘍性疾患
Excelでダウンロード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_001048174.2(MUTYH):c.1A>G (p.Met1Val) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45800177 | 45800177 | T | C | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45799095 | 45799095 | C | T | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.43C>T (p.Gln15Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45800135 | 45800135 | G | A | criteria provided, multiple submitters, no conflicts | - |
| single nucleotide variant | NM_001048174.2(MUTYH):c.475C>T (p.Gln159Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798452 | 45798452 | G | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001048174.2(MUTYH):c.381del (p.Lys127fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798629 | 45798629 | AC | A | criteria provided, multiple submitters, no conflicts | - |
| Deletion | NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798503 | 45798503 | AC | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA658683153 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1102+1G>T | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797332 | 45797332 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340133234 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798993 | 45798993 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA340136310 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.606G>A (p.Gln202=) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798246 | 45798246 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA21838430 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.164C>G (p.Ser55Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45799185 | 45799185 | G | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA057154 |
Copyright © National Center for Global Health and Medicine. All rights reserved.