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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.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.461G>A (p.Arg154His) | MUTYH | Pathogenic | 1 | 45798466 | 45798466 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA013795 |
| 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.1087C>T (p.Gln363Ter) | MUTYH | Pathogenic | 1 | 45797348 | 45797348 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012199 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.655C>T (p.Arg219Ter) | MUTYH | Pathogenic | 1 | 45798112 | 45798112 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA014247 |
| 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.1130C>T (p.Pro377Leu) | MUTYH | Pathogenic | 1 | 45797201 | 45797201 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA012325 |
| Deletion | NM_001048174.2(MUTYH):c.49del (p.Ala17fs) | MUTYH | Pathogenic | 1 | 45800129 | 45800129 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA014621 |
| 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 |
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