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.1103G>A (p.Gly368Asp) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45797228 | 45797228 | C | T | criteria provided, multiple submitters, no conflicts | ClinGen:CA011561,OMIM:604933.0002 |
single nucleotide variant | NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) | MUTYH | Pathogenic/Likely pathogenic | 1 | 45798475 | 45798475 | T | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA011761,OMIM:604933.0001 |