Unique variants in the POLE gene

Information The variants shown are described using the NM_006231.2 transcript reference sequence.

359 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/., ?/. 5 1 c.1A>T r.(?) p.(Met1?), p.? - pathogenic (recessive), VUS g.133263901T>A g.132687315T>A POLE(NM_006231.4):c.1A>T (p.(Met1?)) - POLE_000275 VKGL data sharing initiative Nederland PubMed: Logan 2018 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Nijmegen
+?/. 1 - c.2T>C r.(?) p.? - likely pathogenic g.133263900A>G - POLE(NM_006231.4):c.2T>C (p.(Met1?)) - POLE_000358 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.16G>A r.(?) p.(Gly6Ser) - likely benign g.133263886C>T g.132687300C>T POLE(NM_006231.3):c.16G>A (p.G6S) - POLE_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 5 - c.16G>C r.(?) p.(Gly6Arg) - likely benign g.133263886C>G g.132687300C>G 1 more item - POLE_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
+/. 1 - c.37C>T r.(?) p.(Pro13Ser) - pathogenic g.133263865G>A g.132687279G>A - - POLE_000132 - - - - Germline/De novo (untested) - - - - - Jessada Thutkawkorapin
+/. 1 1i c.62+1G>A r.spl p.? - pathogenic (recessive) g.133263839C>T g.132687253C>T - - POLE_000274 - PubMed: Logan 2018 - - Germline - - - - - Johan den Dunnen
-/. 3 - c.62+15C>T r.(=) p.(=) - benign g.133263825G>A g.132687239G>A POLE(NM_006231.4):c.62+15C>T - POLE_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.68A>G r.(?) p.(Asp23Gly) - likely benign g.133257860T>C g.132681274T>C POLE(NM_006231.4):c.68A>G (p.D23G) - POLE_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.90G>A r.(?) p.(Ser30=) - likely benign g.133257838C>T g.132681252C>T POLE(NM_006231.4):c.90G>A (p.S30=) - POLE_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 6 - c.91G>T r.(?) p.(Ala31Ser) - benign, likely benign g.133257837C>A g.132681251C>A 1 more item - POLE_000105 65 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs34047482 CLASSIFICATION record, Germline - 65/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC, Mohammed Faruq
?/. 1 - c.109C>T r.(?) p.(Arg37Trp) ACMG VUS g.133257819G>A g.132681233G>A - - POLE_000302 - - - - Germline - - - - - AnikĂł Bozsik
-?/., ?/. 6 - c.139C>T r.(?) p.(Arg47Trp) - likely benign, VUS g.133257789G>A g.132681203G>A 1 more item - POLE_000104 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs143626223 CLASSIFICATION record, Germline - 2/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc, VKGL-NL_AMC, Mohammed Faruq
?/. 1 - c.154C>T r.(?) p.(Arg52Trp) - VUS g.133257774G>A g.132681188G>A POLE(NM_006231.4):c.154C>T (p.R52W) - POLE_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.204+9T>C r.(=) p.(=) - likely benign g.133257715A>G g.132681129A>G POLE(NM_006231.4):c.204+9T>C - POLE_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.204+12G>A r.(=) p.(=) - likely benign g.133257712C>T - POLE(NM_006231.4):c.204+12G>A - POLE_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.259A>G r.(?) p.(Ile87Val) - likely benign g.133257219T>C g.132680633T>C POLE(NM_006231.4):c.259A>G (p.I87V) - POLE_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.266A>C r.(?) p.(Asp89Ala) - VUS g.133257212T>G - - - POLE_000243 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-/. 1 - c.270C>T r.(?) p.(Asp90=) - benign g.133257208G>A g.132680622G>A POLE(NM_006231.4):c.270C>T (p.D90=) - POLE_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.318T>C r.(?) p.(Ile106=) - likely benign g.133256776A>G g.132680190A>G POLE(NM_006231.4):c.318T>C (p.I106=) - POLE_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.320C>A r.(?) p.(Ala107Glu) - VUS g.133256774G>T - POLE(NM_006231.3):c.320C>A (p.A107E) - POLE_000260 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.331-13T>G r.(=) p.(=) - VUS g.133256645A>C - POLE(NM_006231.2):c.331-13T>G (p.(=)) - POLE_000312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.331-1G>C r.spl? p.? - VUS g.133256633C>G - POLE(NM_006231.4):c.331-1G>C - POLE_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.407A>T r.(?) p.(Lys136Ile) - VUS g.133256556T>A - POLE(NM_006231.4):c.407A>T (p.(Lys136Ile)) - POLE_000334 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.424-10C>T r.(=) p.(=) - benign g.133256247G>A g.132679661G>A POLE(NM_006231.4):c.424-10C>T - POLE_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.446A>G r.(?) p.(Lys149Arg) - likely benign g.133256215T>C g.132679629T>C POLE(NM_006231.4):c.446A>G (p.K149R) - POLE_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.457A>G r.(?) p.(Ile153Val) - VUS g.133256204T>C - - - POLE_000323 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.493A>C r.(?) p.(Lys165Gln) - VUS g.133256168T>G - POLE(NM_006231.4):c.493A>C (p.K165Q) - POLE_000333 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.510C>A r.(?) p.(Ile170=) - likely benign g.133256151G>T g.132679565G>T POLE(NM_006231.4):c.510C>A (p.I170=) - POLE_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.552C>T r.(?) p.(Ser184=) - likely benign g.133256109G>A g.132679523G>A POLE(NM_006231.4):c.552C>T (p.S184=) - POLE_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.561C>T r.(?) p.(Tyr187=) - likely benign g.133256100G>A g.132679514G>A POLE(NM_006231.4):c.561C>T (p.Y187=) - POLE_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.579-14_579-13del r.(=) p.(=) - likely benign g.133254318_133254319del g.132677732_132677733del POLE(NM_006231.4):c.579-14_579-13delTT - POLE_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.609T>G r.(?) p.(Asp203Glu) - likely benign g.133254275A>C - - - POLE_000357 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 3 - c.691C>T r.(?) p.(Arg231Cys) - likely benign, VUS g.133254193G>A g.132677607G>A POLE(NM_006231.2):c.691C>T (p.(Arg231Cys)), POLE(NM_006231.4):c.691C>T (p.R231C) - POLE_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.710A>C r.(?) p.(Lys237Thr) - likely benign g.133254174T>G g.132677588T>G POLE(NM_006231.4):c.710A>C (p.K237T) - POLE_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.711_713del r.(?) p.(Lys237_Ile238delinsAsn) - likely pathogenic (recessive) g.133254171_133254173del g.132677585_132677587del - - POLE_000261 - PubMed: Nakano 202 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.712A>T r.(?) p.(Ile238Phe) - VUS g.133254172T>A - - - POLE_000237 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. 1 - c.720+16T>C r.(=) p.(=) - VUS g.133254148A>G - POLE(NM_006231.2):c.720+16T>C (p.(=)) - POLE_000339 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.721-54A>G r.(=) p.(=) - benign g.133254083T>C g.132677497T>C - - POLE_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.721-9_721-8del r.(=) p.(=) - VUS g.133254042_133254043del - POLE(NM_006231.2):c.721-9_721-8del (p.(=)) - POLE_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.755C>T r.(?) p.(Ala252Val) - benign g.133253995G>A g.132677409G>A POLE(NM_006231.4):c.755C>T (p.A252V) - POLE_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.774C>G r.(?) p.(Thr258=) - likely benign g.133253976G>C g.132677390G>C POLE(NM_006231.4):c.774C>G (p.T258=) - POLE_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 6 - c.776G>A r.(?) p.(Arg259His) - likely benign, VUS g.133253974C>T g.132677388C>T 1 more item - POLE_000093 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs61732929 CLASSIFICATION record, Germline - 2/2792 individuals - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC, Mohammed Faruq
-?/., ?/. 3 - c.779G>A r.(?) p.(Arg260Gln) - likely benign, VUS g.133253971C>T g.132677385C>T POLE(NM_006231.2):c.779G>A (p.(Arg260Gln)), POLE(NM_006231.4):c.779G>A (p.R260Q) - POLE_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.797G>A r.(?) p.(Arg266Gln) - likely benign g.133253953C>T g.132677367C>T POLE(NM_006231.4):c.797G>A (p.R266Q) - POLE_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.797G>T r.(?) p.(Arg266Leu) - VUS g.133253953C>A g.132677367C>A - - POLE_000212 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs115786159 Germline - 1/2794 individuals - - - Mohammed Faruq
?/. 2 - c.800C>T r.(?) p.(Pro267Leu) - VUS g.133253950G>A - POLE(NM_006231.4):c.800C>T (p.P267L) - POLE_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/. 1 8i c.801+2T>C r.spl p.? - pathogenic (recessive) g.133253947A>G g.132677361A>G - - POLE_000273 - PubMed: Logan 2018 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.828T>G r.(?) p.(Ile276Met) - VUS g.133253213A>C g.132676627A>C POLE(NM_006231.3):c.828T>G (p.I276M) - POLE_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.833C>A r.(?) p.(Thr278Lys) - pathogenic g.133253208G>T g.132676622G>T - - POLE_000133 - - - - Germline yes - - - - Joan Brunet
?/. 1 - c.833C>T r.(?) p.(Thr278Met) - VUS g.133253208G>A - POLE(NM_006231.3):c.833C>T (p.T278M) - POLE_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 9 c.844C>T r.(?) p.(Pro282Ser) ACMG VUS g.133253197G>A g.132676611G>A - - POLE_000134 - - - - Germline ? - - - - Sarah Collis
-/. 1 - c.846C>T r.(?) p.(Pro282=) - benign g.133253195G>A g.132676609G>A POLE(NM_006231.4):c.846C>T (p.P282=) - POLE_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/., ?/. 3 - c.850A>G r.(?) p.(Lys284Glu) - likely pathogenic, VUS g.133253191T>C g.132676605T>C POLE(NM_006231.4):c.850A>G (p.K284E) - POLE_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
+/. 1 - c.857C>G r.(?) p.(Pro286Arg) - pathogenic g.133253184G>C - - - POLE_000338 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 7 9 c.861T>A r.(?) p.(Asp287Glu) - likely benign, VUS g.133253180A>T g.132676594A>T 1 more item - POLE_000003 VKGL data sharing initiative Nederland PubMed: Jansen 2015, Journal: Jansen 2015 - rs139075637 CLASSIFICATION record, Germline - - - - - Anne Jansen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
+/. 1 - c.890C>A r.(?) p.(Ser297Tyr) - pathogenic g.133253151G>T - - - POLE_000292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.895A>G r.(?) p.(Met299Val) - VUS g.133253146T>C g.132676560T>C - - POLE_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.905G>A r.(?) p.(Gly302Asp) - VUS g.133253136C>T - POLE(NM_006231.4):c.905G>A (p.(Gly302Asp)) - POLE_000356 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.908A>G r.(?) p.(Gln303Arg) - VUS g.133253133T>C - - - POLE_000259 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.909+3G>C r.spl? p.? - VUS g.133253129C>G - POLE(NM_006231.4):c.909+3G>C - POLE_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.910-6G>C r.(=) p.(=) - benign g.133252796C>G g.132676210C>G POLE(NM_006231.4):c.910-6G>C - POLE_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.996T>C r.(?) p.(Phe332=) - likely benign g.133252704A>G g.132676118A>G POLE(NM_006231.4):c.996T>C (p.F332=) - POLE_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., ?/. 5 - c.1007A>G r.(?) p.(Asn336Ser) - benign, VUS g.133252693T>C g.132676107T>C POLE(NM_006231.2):c.1007A>G (p.(Asn336Ser)), POLE(NM_006231.4):c.1007A>G (p.N336S) - POLE_000086 VKGL data sharing initiative Nederland PubMed: Luo 2021, Journal: Luo 2021 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc, VKGL-NL_AMC, Liu Wenbing
?/. 1 - c.1015G>A r.(?) p.(Asp339Asn) - VUS g.133252685C>T - - - POLE_000242 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
?/. 1 - c.1016A>T r.(?) p.(Asp339Val) - VUS g.133252684T>A - POLE(NM_006231.3):c.1016A>T (p.D339V) - POLE_000258 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1050C>A r.(?) p.(His350Gln) - VUS g.133252377G>T - POLE(NM_006231.4):c.1050C>A (p.H350Q) - POLE_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1089C>T r.(?) p.(Asn363=) - likely benign g.133252338G>A g.132675752G>A POLE(NM_006231.4):c.1089C>T (p.N363=) - POLE_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1106+3G>C r.spl? p.? - VUS g.133252318C>G - POLE(NM_006231.4):c.1106+3G>C - POLE_000355 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1138G>A r.(?) p.(Gly380Ser) - VUS g.133252072C>T - - - POLE_000241 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-?/. 1 - c.1145G>A r.(?) p.(Ser382Asn) - likely benign g.133252065C>T g.132675479C>T - - POLE_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1226+45C>T r.(=) p.(=) - benign g.133251939G>A g.132675353G>A - - POLE_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1226+46G>A r.(=) p.(=) - likely benign g.133251938C>T - - - POLE_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 12i c.1226+234G>A 1 more item p.? - pathogenic (recessive) g.133251750C>T g.132675164C>T - - POLE_000262 effect on RNA predicted from in vitro mini-gene splicing assay PubMed: Nakano 202 - - Germline, Germline/De novo (untested) - - - - - Johan den Dunnen
+?/. 2 13 c.1231G>A r.(?) p.(Val411Met) ACMG likely pathogenic g.133250289C>T g.132673703C>T - - POLE_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Kathleen Claes, VKGL-NL_Nijmegen
+/+, +/., +?/+?, +?/., +?/? 9 12, 13 c.1270C>G r.(?) p.(Leu424Val) - likely pathogenic, pathogenic, VUS g.133250250G>C g.132673664G>C POLE(NM_006231.4):c.1270C>G (p.L424V) - POLE_000001 VKGL data sharing initiative Nederland PubMed: Elsayed 2015, Journal: Elsayed 2015, {PMID:Palles et al10.1038/ng.2503} - - CLASSIFICATION record, De novo, Germline - 1/1188 cases - - - Ian Tomlinson, Tom van Wezel, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.1274A>G r.(?) p.(Lys425Arg) - VUS g.133250246T>C - POLE(NM_006231.3):c.1274A>G (p.K425R) - POLE_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1282G>A r.(?) p.(Ala428Thr) - VUS g.133250238C>T - POLE(NM_006231.4):c.1282G>A (p.A428T) - POLE_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 2 - c.1288G>A r.(?) p.(Ala430Thr) - likely benign, VUS g.133250232C>T g.132673646C>T POLE(NM_006231.4):c.1288G>A (p.A430T) - POLE_000084 conflicting interpretations of pathogenicity; 16 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs140566004 CLASSIFICATION record, Germline - 16/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
?/. 1 - c.1309G>A r.(?) p.(Val437Met) - VUS g.133250211C>T - POLE(NM_006231.4):c.1309G>A (p.V437M) - POLE_000319 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1315C>G r.(?) p.(Leu439Val) - VUS g.133250205G>C - - - POLE_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 4 - c.1323G>A r.(?) p.(Pro441=) - benign g.133250197C>T g.132673611C>T POLE(NM_006231.2):c.1323G>A (p.(Pro441=)), POLE(NM_006231.4):c.1323G>A (p.P441=) - POLE_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
-?/., ?/. 6 - c.1337G>A r.(?) p.(Arg446Gln) - likely benign, VUS g.133250183C>T g.132673597C>T 1 more item - POLE_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 2 - c.1346C>T r.(?) p.(Thr449Met) - VUS g.133250174G>A - - - POLE_000236 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - Liu Wenbing
-?/. 4 - c.1347G>A r.(?) p.(Thr449=) - likely benign g.133250173C>T g.132673587C>T 1 more item - POLE_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.1357C>G r.(?) p.(Gln453Glu) - VUS g.133250163G>C g.132673577G>C POLE(NM_006231.4):c.1357C>G (p.Q453E) - POLE_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1359+6T>C r.(?) p.(?) - VUS g.133250155A>G - - - POLE_000347 - - - rs1555228569 CLASSIFICATION record - - - - - MobiDetails
-/., -?/. 3 - c.1359+9G>A r.(=) p.(=) - benign, likely benign g.133250152C>T g.132673566C>T POLE(NM_006231.3):c.1359+9G>A, POLE(NM_006231.4):c.1359+9G>A - POLE_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc, VKGL-NL_AMC
-/. 1 - c.1359+18C>T r.(=) p.(=) - benign g.133250143G>A - - - POLE_000332 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1359+43G>A r.(=) p.(=) - benign g.133250118C>T g.132673532C>T - - POLE_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1359+58C>T r.(=) p.(=) - likely benign g.133250103G>A g.132673517G>A - - POLE_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1360-36_1360-1del r.spl p.? - pathogenic g.133249864_133249899del g.132673278_132673313del - - POLE_000340 - Yuen (unpublished) - - Germline - - - - - Jeanette Yuen
-?/. 2 - c.1360-6C>T r.(=) p.(=) - likely benign g.133249869G>A g.132673283G>A POLE(NM_006231.3):c.1360-6C>T - POLE_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/. 9 - c.1373A>T r.(?) p.(Tyr458Phe) - pathogenic g.133249850T>A g.132673264T>A - - POLE_000002 - - - - Germline yes - - - - Maren Fridtjofsen Hansen
?/. 1 - c.1385A>G r.(?) p.(Asp462Gly) - VUS g.133249838T>C - POLE(NM_006231.4):c.1385A>G (p.(Asp462Gly)) - POLE_000354 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/., ?/. 3 - c.1405C>T r.(?) p.(Leu469=) - benign, likely benign, VUS g.133249818G>A g.132673232G>A POLE(NM_006231.2):c.1405C>T (p.(Leu469=)), POLE(NM_006231.4):c.1405C>T (p.L469=) - POLE_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.1467C>T r.(?) p.(Pro489=) - likely benign g.133249756G>A g.132673170G>A POLE(NM_006231.4):c.1467C>T (p.P489=) - POLE_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 5 - c.1470C>T r.(?) p.(Asp490=) - benign g.133249753G>A g.132673167G>A 1 more item - POLE_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
?/. 1 - c.1473+17C>T r.(=) p.(=) - VUS g.133249733G>A - POLE(NM_006231.2):c.1473+17C>T (p.(=)) - POLE_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1474-68C>T r.(=) p.(=) - likely benign g.133249493G>A - POLE(NM_006231.3):c.1474-68C>T - POLE_000256 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
?/. 2 - c.1516A>G r.(?) p.(Met506Val) - VUS g.133249383T>C g.132672797T>C POLE(NM_006231.3):c.1516A>G (p.M506V), POLE(NM_006231.4):c.1516A>G (p.M506V) - POLE_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
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