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.421-2A>C | MUTYH | Likely pathogenic | 1 | 45798508 | 45798508 | T | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA013693 |
Deletion | NM_001048174.2(MUTYH):c.1392_1392+6del | MUTYH | Likely pathogenic | 1 | 45796848 | 45796854 | GTAGTGCC | G | criteria provided, multiple submitters, no conflicts | ClinGen:CA346797 |