Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
---|---|---|---|---|---|---|---|---|---|---|
(GRCh37) | ||||||||||
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 | - |
Deletion | NM_006231.4(POLE):c.5783_5784del (p.Lys1928fs) | POLE | Pathogenic | 12 | 133212505 | 133212506 | CTT | C | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.6023del (p.Tyr2008fs) | POLE | Pathogenic | 12 | 133209363 | 133209363 | GT | G | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.6273_6280del (p.Gly2092fs) | POLE | Pathogenic | 12 | 133208951 | 133208958 | TGGGAACCG | T | criteria provided, single submitter | - |
single nucleotide variant | NM_006231.4(POLE):c.729G>A (p.Trp243Ter) | POLE | Pathogenic | 12 | 133254021 | 133254021 | C | T | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.1350_1360del (p.Glu450fs) | POLE | Pathogenic | 12 | 133250161 | 133250171 | CCTGGGGCTGCT | C | criteria provided, single submitter | - |
Duplication | NM_006231.4(POLE):c.1625dup (p.His543fs) | POLE | Pathogenic | 12 | 133249273 | 133249274 | G | GC | criteria provided, single submitter | - |