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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.694C>T (p.Gln232Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798073 | 45798073 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA059049 |
| 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.1393-1G>A | MUTYH | Likely pathogenic | 1 | 45796230 | 45796230 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040736 |
| 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.442_451del (p.Gly148fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798476 | 45798485 | TAGCCCAGGCC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16040738 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.379-1G>A | MUTYH | Likely pathogenic | 1 | 45798632 | 45798632 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16603709 |
| 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 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.849+2T>G | MUTYH | Likely pathogenic | 1 | 45797836 | 45797836 | A | C | criteria provided, single submitter | ClinGen:CA16610117 |
| Deletion | NM_001048174.2(MUTYH):c.1016_1017del (p.Pro339fs) | MUTYH | Likely pathogenic | 1 | 45797418 | 45797419 | TGG | T | criteria provided, single submitter | ClinGen:CA16610119 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.379-1G>C | MUTYH | Pathogenic | 1 | 45798632 | 45798632 | C | G | criteria provided, single submitter | ClinGen:CA16610121 |
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