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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.1156C>T (p.Gln386Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797175 | 45797175 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA055585 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.502G>T (p.Glu168Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798350 | 45798350 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA058359 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.963G>A (p.Trp321Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797472 | 45797472 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610113 |
| Deletion | NM_001048174.2(MUTYH):c.442_451del (p.Gly148fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798476 | 45798485 | TAGCCCAGGCC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040738 |
| Deletion | NM_001048174.2(MUTYH):c.994del (p.Arg332fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797441 | 45797441 | CT | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040737 |
| Deletion | NM_001048174.2(MUTYH):c.1103-32_1115del | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797216 | 45797260 | TCCTGCCAGCAGACCTGAGAGGGAGGGCAGCCAGGCAGGGGTCAGG | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA10588298 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.694C>T (p.Gln232Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798073 | 45798073 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA059049 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796895 | 45796895 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10581802 |
| Duplication | NM_001048174.2(MUTYH):c.369_374dup (p.Trp124_Met125insIleTrp) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798772 | 45798773 | C | CATCCAT | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577736 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.383G>A (p.Trp128Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798627 | 45798627 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA057931 |
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