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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) | ||||||||||
| Duplication | NM_001048174.2(MUTYH):c.1017dup (p.Arg340fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797417 | 45797418 | T | TG | criteria provided, multiple submitters, no conflicts | ClinGen:CA192878 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.307T>A (p.Trp103Arg) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798840 | 45798840 | A | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA013507 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797914 | 45797914 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014470 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.420+2T>C | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798588 | 45798588 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA013687 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1103-2A>G | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797230 | 45797230 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA012245 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798117 | 45798117 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA014226 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1102+1G>A | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797332 | 45797332 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA012227 |
| 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 |
| 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.228C>A (p.Tyr76Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45799121 | 45799121 | G | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA013334,OMIM:604933.0004 |
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