Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
single nucleotide variant | NM_006231.4(POLE):c.2865-2A>G | POLE | Likely pathogenic | 12 | 133237752 | 133237752 | T | C | criteria provided, single submitter | ClinGen:CA16613902 |
single nucleotide variant | NM_006231.4(POLE):c.3060+2T>G | POLE | Likely pathogenic | 12 | 133237553 | 133237553 | A | C | criteria provided, multiple submitters, no conflicts | ClinGen:CA6893380 |
single nucleotide variant | NM_006231.4(POLE):c.3276-2A>G | POLE | Likely pathogenic | 12 | 133234558 | 133234558 | T | C | criteria provided, single submitter | ClinGen:CA16613876 |
single nucleotide variant | NM_006231.4(POLE):c.2468+1G>A | POLE | Likely pathogenic | 12 | 133241887 | 133241887 | C | T | criteria provided, single submitter | ClinGen:CA16613609 |
single nucleotide variant | NM_006231.4(POLE):c.4006-1G>T | POLE | Likely pathogenic | 12 | 133225659 | 133225659 | C | A | criteria provided, single submitter | ClinGen:CA16043996 |