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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) | ||||||||||
| Deletion | NM_001048174.2(MUTYH):c.1318_1319del (p.Thr440fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796927 | 45796928 | GGT | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA658656914 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.736C>T (p.Arg246Trp) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797951 | 45797951 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA059263 |
| Deletion | NM_001048174.2(MUTYH):c.775del (p.Ala259fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797912 | 45797912 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA059378 |
| single nucleotide variant | NM_001128425.2(MUTYH):c.35G>A (p.Trp12Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45805892 | 45805892 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617170 |
| Deletion | NM_001128425.2(MUTYH):c.200del (p.Gly67fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45799233 | 45799233 | GC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA055834 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.604C>T (p.Gln202Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798248 | 45798248 | G | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617164 |
| Deletion | NM_001048174.2(MUTYH):c.1237del (p.Glu413fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797094 | 45797094 | TC | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617155 |
| Duplication | NM_001048174.2(MUTYH):c.1363dup (p.Thr455fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796882 | 45796883 | G | GT | criteria provided, multiple submitters, no conflicts | ClinGen:CA16617154 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797356 | 45797356 | A | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA16610175 |
| Deletion | NM_001048174.2(MUTYH):c.420+19_420+31del | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798559 | 45798571 | TCCTATTTCCCCTA | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA058004 |
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