Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_000038.6(APC):c.645+1G>A | APC | Likely pathogenic | 5 | 112116601 | 112116601 | G | A | reviewed by expert panel | ClinGen:CA279701 |
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_000038.6(APC):c.645+2T>G | APC | Likely pathogenic | 5 | 112116602 | 112116602 | T | G | criteria provided, single submitter | ClinGen:CA011369 |
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 |
Deletion | NM_000038.6(APC):c.4255del (p.Ser1419fs) | APC | Likely pathogenic | 5 | 112175545 | 112175545 | TA | T | criteria provided, single submitter | ClinGen:CA009405 |
Duplication | NM_001127510.3(APC):c.1917dup (p.Arg640fs) | APC | Likely pathogenic | 5 | 112170820 | 112170821 | T | TA | criteria provided, multiple submitters, no conflicts | ClinGen:CA006371 |