Full data view for gene POLE2

Information The variants shown are described using the NM_002692.3 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.50G>C r.(?) p.(Arg17Pro) Unknown - VUS g.50154872C>G g.49688154C>G - - POLE2_000004 VUS (PathoMan) - - rs865807175 Germline ? - - - - DNA PCR blood - HNPCC (Lynch) - - - ? ? Spain European Non-Finish - - - - 1 Mariona Terradas
?/. - c.65G>A r.(?) p.(Arg22His) Unknown - VUS g.50154857C>T - POLE2(NM_002692.4):c.65G>A (p.R22H) - KLHDC1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.349C>A r.(?) p.(Pro117Thr) Unknown - VUS g.50140909G>T - - - POLE2_000009 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.518G>A r.(?) p.(Gly173Asp) Unknown - VUS g.50133106C>T - POLE2(NM_002692.4):c.518G>A (p.G173D) - POLE2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.856A>G r.(?) p.(Met286Val) Unknown - VUS g.50122461T>C g.49655743T>C - - POLE2_000003 VUS (PathoMan) - - rs368277605 Germline ? - - - - DNA PCR blood - HNPCC (Lynch) - - - ? no Spain European Non-Finish - - - - 1 Mariona Terradas
-?/. - c.1018+8C>T r.(=) p.(=) Unknown - likely benign g.50121715G>A g.49654997G>A POLE2(NM_002692.3):c.1018+8C>T, POLE2(NM_002692.4):c.1018+8C>T - POLE2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1018+8C>T r.(=) p.(=) Unknown - likely benign g.50121715G>A - POLE2(NM_002692.3):c.1018+8C>T, POLE2(NM_002692.4):c.1018+8C>T - POLE2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1068C>G r.(?) p.(His356Gln) Unknown - VUS g.50121507G>C - - - POLE2_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1068C>G r.(?) p.(His356Gln) Unknown - VUS g.50121507G>C - - - POLE2_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1068C>G r.(?) p.(His356Gln) Unknown - VUS g.50121507G>C - - - POLE2_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1068C>G r.(?) p.(His356Gln) Unknown - VUS g.50121507G>C - - - POLE2_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1068C>G r.(?) p.(His356Gln) Unknown - VUS g.50121507G>C - - - POLE2_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1068C>G r.(?) p.(His356Gln) Unknown - VUS g.50121507G>C - - - POLE2_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1068C>G r.(?) p.(His356Gln) Unknown - VUS g.50121507G>C - - - POLE2_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1068C>G r.(?) p.(His356Gln) Unknown - VUS g.50121507G>C - - - POLE2_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1068C>G r.(?) p.(His356Gln) Unknown - VUS g.50121507G>C - - - POLE2_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1068C>G r.(?) p.(His356Gln) Unknown - VUS g.50121507G>C - - - POLE2_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1074-1G>T r.spl? p.? Unknown - VUS g.50120933C>A - POLE2(NM_002692.4):c.1074-1G>T - POLE2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1133+20T>C r.(=) p.(=) Unknown - likely benign g.50120853A>G - POLE2(NM_002692.4):c.1133+20T>C - POLE2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1134-20C>T r.(=) p.(=) Unknown - likely benign g.50120805G>A - POLE2(NM_002692.4):c.1134-20C>T - POLE2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1224dup r.(?) p.(Thr409Tyrfs*9) Unknown - VUS g.50118083dup g.49651365dup 1224dupT - POLE2_000008 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1247G>A r.(?) p.(Arg416His) Unknown - VUS g.50118060C>T - POLE2(NM_002692.4):c.1247G>A (p.R416H) - POLE2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1406dup r.(?) p.(Leu469Phefs*17) Unknown - VUS g.50117076dup - POLE2(NM_001348385.1):c.1175dupT (p.L392Ffs*17), POLE2(NM_002692.4):c.1406dupT (p.L469Ffs*17) - POLE2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1406dup r.(?) p.(Leu469Phefs*17) Unknown - VUS g.50117076dup - POLE2(NM_001348385.1):c.1175dupT (p.L392Ffs*17), POLE2(NM_002692.4):c.1406dupT (p.L469Ffs*17) - POLE2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1414T>C r.(?) p.(Tyr472His) Unknown - likely benign g.50117066A>G g.49650348A>G POLE2(NM_001348385.1):c.1183T>C (p.Y395H), POLE2(NM_002692.4):c.1414T>C (p.Y472H) - POLE2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1414T>C r.(?) p.(Tyr472His) Unknown - VUS g.50117066A>G g.49650348A>G - - POLE2_000001 VUS (PathoMan) - - rs34000915 Germline ? - - - - DNA PCR blood - HNPCC (Lynch) - - - ? no Spain European Non-Finish - - - - 1 Mariona Terradas
?/. - c.1414T>C r.(?) p.(Tyr472His) Unknown - VUS g.50117066A>G g.49650348A>G - - POLE2_000001 VUS (PathoMan) - - rs34000915 Germline ? - - - - DNA PCR blood - HNPCC (Lynch) - - - ? ? Spain European Non-Finish - - - - 1 Mariona Terradas
?/. - c.1414T>C r.(?) p.(Tyr472His) Unknown - VUS g.50117066A>G - - - POLE2_000001 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1414T>C r.(?) p.(Tyr472His) Unknown - likely benign g.50117066A>G - POLE2(NM_001348385.1):c.1183T>C (p.Y395H), POLE2(NM_002692.4):c.1414T>C (p.Y472H) - POLE2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1489A>G r.(?) p.(Ile497Val) Unknown - likely benign g.50116991T>C - POLE2(NM_001348385.1):c.1258A>G (p.I420V) - POLE2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1565+20C>G r.(=) p.(=) Unknown - likely benign g.50113991G>C g.49647273G>C POLE2(NM_001348385.1):c.1334+20C>G - POLE2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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