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.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 | - |
single nucleotide variant | NM_006231.4(POLE):c.5867A>T (p.Glu1956Val) | POLE | Likely pathogenic | 12 | 133210909 | 133210909 | T | A | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.5932_5942del (p.Asn1978fs) | POLE | Pathogenic | 12 | 133210834 | 133210844 | GTTCCAGTTGTT | G | criteria provided, single submitter | ClinGen:CA658798015 |
single nucleotide variant | NM_006231.4(POLE):c.6002C>G (p.Ser2001Ter) | POLE | Pathogenic | 12 | 133210774 | 133210774 | G | C | criteria provided, single submitter | - |
Deletion | NC_000012.12:g.(?_132632305)_(132632805_?)del | POLE | Pathogenic | 12 | 133208891 | 133209391 | na | na | 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.6026del (p.His2009fs) | POLE | Pathogenic | 12 | 133209360 | 133209360 | GT | G | criteria provided, single submitter | - |
Deletion | NM_006231.4(POLE):c.6072del (p.Pro2024_Val2025insTer) | POLE | Pathogenic | 12 | 133209314 | 133209314 | CG | C | criteria provided, single submitter | ClinGen:CA6892286 |
Deletion | NM_006231.4(POLE):c.6273_6280del (p.Gly2092fs) | POLE | Pathogenic | 12 | 133208951 | 133208958 | TGGGAACCG | T | criteria provided, single submitter | - |