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家族性大腸腺腫症
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.637C>T (p.Arg213Trp) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798130 | 45798130 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA014196 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797972 | 45797972 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA014333 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797887 | 45797887 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA014557 |
| 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 |
| Deletion | NM_001048174.2(MUTYH):c.1392_1392+6del | MUTYH | Likely pathogenic | 1 | 45796848 | 45796854 | GTAGTGCC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA346797 |
| 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 |
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