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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.1390A>T (p.Lys464Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796856 | 45796856 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA338021 |
| Deletion | NM_001048174.2(MUTYH):c.1130_1140del (p.Pro377fs) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797191 | 45797201 | AGGTCACGGACG | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA336859 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.420+2T>G | MUTYH | Likely pathogenic | 1 | 45798588 | 45798588 | A | C | criteria provided, single submitter | ClinGen:CA336154 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.305-2A>G | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798844 | 45798844 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA337713 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796229 | 45796229 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA056613 |
| Deletion | NM_001048174.2(MUTYH):c.1017_1035del (p.Arg340fs) | MUTYH | Pathogenic | 1 | 45797400 | 45797418 | TGGCAGAGCTCTCCTCCCTG | T | criteria provided, single submitter | ClinGen:CA353501 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1434+1G>T | MUTYH | Likely pathogenic | 1 | 45796187 | 45796187 | C | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577697 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1387A>T (p.Lys463Ter) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45796859 | 45796859 | T | A | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577699 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.1240-1G>T | MUTYH | Likely pathogenic | 1 | 45797007 | 45797007 | C | A | criteria provided, single submitter | ClinGen:CA10577706 |
| single nucleotide variant | NM_001048174.2(MUTYH):c.763A>G (p.Met255Val) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797924 | 45797924 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA10577722 |
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