Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
Deletion | NM_006231.4(POLE):c.2956del (p.Gln986fs) | POLE | Pathogenic | 12 | 133237659 | 133237659 | TG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.3039G>A (p.Trp1013Ter) | POLE | Pathogenic | 12 | 133237576 | 133237576 | C | T | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.3071del (p.Met1024fs) | POLE | Pathogenic | 12 | 133236085 | 133236085 | CA | C | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.4231_4232del (p.Ile1411fs) | POLE | Pathogenic | 12 | 133220481 | 133220482 | GAT | G | criteria provided, single submitter | - |
Duplication | NM_006231.4(POLE):c.4552-1dup | POLE | Pathogenic | 12 | 133219581 | 133219582 | A | AC | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.4593_4611del (p.Ala1532fs) | POLE | Pathogenic | 12 | 133219523 | 133219541 | GGAGGAGGCCGTGCTCTGCT | G | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.4959del (p.His1654fs) | POLE | Pathogenic | 12 | 133218977 | 133218977 | GA | G | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.5245G>T (p.Glu1749Ter) | POLE | Pathogenic | 12 | 133218366 | 133218366 | C | A | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.5336del (p.Pro1779fs) | POLE | Pathogenic | 12 | 133218275 | 133218275 | CG | C | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.5658C>A (p.Tyr1886Ter) | POLE | Pathogenic | 12 | 133214620 | 133214620 | G | T | criteria provided, single submitter | - |