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MUTYH関連ポリポーシス
腫瘍性疾患
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| 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.452A>G (p.Tyr151Cys) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798475 | 45798475 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA011761,OMIM:604933.0001 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797228 | 45797228 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011561,OMIM:604933.0002 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45799121 | 45799121 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA013334,OMIM:604933.0004 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1354G>T (p.Glu452Ter) | MUTYH | Pathogenic | 1 | 45796892 | 45796892 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011650,OMIM:604933.0005 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.649C>T (p.Arg217Cys) | MUTYH | Pathogenic | 1 | 45798118 | 45798118 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011806 |
| Duplication | NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797186 | 45797187 | T | TCC | criteria provided, multiple submitters, no conflicts | ClinGen:CA011586,LOVD 3:MUTYH_000078,OMIM:604933.0008 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.928C>T (p.Gln310Ter) | MUTYH | Pathogenic | 1 | 45797507 | 45797507 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA011953 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) | MUTYH | Pathogenic | 1 | 45800165 | 45800165 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA013854 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798838 | 45798838 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA013516 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.205C>T (p.Arg69Ter) | MUTYH | Pathogenic | 1 | 45799144 | 45799144 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA013297 |
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