Disease associated variation - ClinVar Allele ID Type Name RS#dbSNP Phenotype IDs Chromosome Start Stop Reference Alternate 20927 deletion POLH, DEL AND TRP297TER -1 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 na -1 -1 na na 20923 deletion POLH, 13-BP DEL, NT343 -1 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 na -1 -1 na na 20924 deletion POLH, 4-BP DEL, NT289 -1 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 na -1 -1 na na 20925 deletion POLH, 2-BP DEL, NT770 -1 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 na -1 -1 na na 20926 single nucleotide variant NM_006502.2(POLH):c.916G>T (p.Glu306Ter) 121908562 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43572383 43572383 G T 20926 single nucleotide variant NM_006502.2(POLH):c.916G>T (p.Glu306Ter) 121908562 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43604646 43604646 G T 20928 single nucleotide variant NM_006502.2(POLH):c.376C>T (p.Gln126Ter) 121908563 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43555112 43555112 C T 20928 single nucleotide variant NM_006502.2(POLH):c.376C>T (p.Gln126Ter) 121908563 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43587375 43587375 C T 20929 single nucleotide variant NM_006502.2(POLH):c.1117C>T (p.Gln373Ter) 121908564 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43578333 43578333 C T 20929 single nucleotide variant NM_006502.2(POLH):c.1117C>T (p.Gln373Ter) 121908564 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43610596 43610596 C T 20930 deletion POLH, 104-BP DEL, NT661 -1 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 na -1 -1 na na 20931 deletion POLH, 1-BP DEL, 207G -1 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 na -1 -1 na na 20932 deletion POLH, 3-BP DEL, NT222 -1 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 na -1 -1 na na 20933 single nucleotide variant NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) 56307355 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43581755 43581755 A G 20933 single nucleotide variant NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) 56307355 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43614018 43614018 A G 20934 single nucleotide variant NM_006502.2(POLH):c.1766A>C (p.Lys589Thr) 121908565 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43581918 43581918 A C 20934 single nucleotide variant NM_006502.2(POLH):c.1766A>C (p.Lys589Thr) 121908565 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43614181 43614181 A C 225790 single nucleotide variant NM_006502.2(POLH):c.764+1G>A 772570523 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43601092 43601092 G A 225790 single nucleotide variant NM_006502.2(POLH):c.764+1G>A 772570523 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43568829 43568829 G A 225791 single nucleotide variant NM_006502.2(POLH):c.907C>T (p.Arg303Ter) 759607901 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43604637 43604637 C T 225791 single nucleotide variant NM_006502.2(POLH):c.907C>T (p.Arg303Ter) 759607901 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43572374 43572374 C T 227299 single nucleotide variant NM_006502.2(POLH):c.490G>T (p.Glu164Ter) 767433001 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43555226 43555226 G T 227299 single nucleotide variant NM_006502.2(POLH):c.490G>T (p.Glu164Ter) 767433001 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43587489 43587489 G T 252373 single nucleotide variant NM_006502.2(POLH):c.626G>T (p.Gly209Val) 2307456 MedGen:CN169374 6 43565568 43565568 G T 252373 single nucleotide variant NM_006502.2(POLH):c.626G>T (p.Gly209Val) 2307456 MedGen:CN169374 6 43597831 43597831 G T 252374 single nucleotide variant NM_006502.2(POLH):c.1434G>A (p.Thr478=) 3734690 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346;MedGen:CN169374 6 43581586 43581586 G A 252374 single nucleotide variant NM_006502.2(POLH):c.1434G>A (p.Thr478=) 3734690 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346;MedGen:CN169374 6 43613849 43613849 G A 252375 single nucleotide variant NM_006502.2(POLH):c.1783A>G (p.Met595Val) 9333555 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346;MedGen:CN169374 6 43581935 43581935 A G 252375 single nucleotide variant NM_006502.2(POLH):c.1783A>G (p.Met595Val) 9333555 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346;MedGen:CN169374 6 43614198 43614198 A G 252376 single nucleotide variant NM_006502.2(POLH):c.1939A>T (p.Met647Leu) 6941583 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346;MedGen:CN169374 6 43582091 43582091 A T 252376 single nucleotide variant NM_006502.2(POLH):c.1939A>T (p.Met647Leu) 6941583 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346;MedGen:CN169374 6 43614354 43614354 A T 259250 single nucleotide variant NM_006502.2(POLH):c.725C>G (p.Ser242Ter) 745778317 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43568789 43568789 C G 259250 single nucleotide variant NM_006502.2(POLH):c.725C>G (p.Ser242Ter) 745778317 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43601052 43601052 C G 259251 deletion NM_006502.2(POLH):c.1661delA (p.Asn555Thrfs) 886039225 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43581813 43581813 A - 259251 deletion NM_006502.2(POLH):c.1661delA (p.Asn555Thrfs) 886039225 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 6 43614076 43614076 A - 259256 undetermined variant -1 MedGen:C1848410,OMIM:278750,Orphanet:ORPHA90342 na -1 -1 na na 300255 single nucleotide variant NM_006502.2(POLH):c.-232C>A 542595870 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576213 43576213 C A 300255 single nucleotide variant NM_006502.2(POLH):c.-232C>A 542595870 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43543950 43543950 C A 300256 single nucleotide variant NM_006502.2(POLH):c.-117C>T 56300149 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576328 43576328 C T 300256 single nucleotide variant NM_006502.2(POLH):c.-117C>T 56300149 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43544065 43544065 C T 300257 single nucleotide variant NM_006502.2(POLH):c.-5+3A>G 9357415 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576443 43576443 A G 300257 single nucleotide variant NM_006502.2(POLH):c.-5+3A>G 9357415 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43544180 43544180 A G 300259 single nucleotide variant NM_006502.2(POLH):c.986C>T (p.Thr329Ile) 35675573 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43604716 43604716 C T 300259 single nucleotide variant NM_006502.2(POLH):c.986C>T (p.Thr329Ile) 35675573 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43572453 43572453 C T 300263 single nucleotide variant NM_006502.2(POLH):c.1074T>G (p.Asp358Glu) 886061433 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43605319 43605319 T G 300263 single nucleotide variant NM_006502.2(POLH):c.1074T>G (p.Asp358Glu) 886061433 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43573056 43573056 T G 300266 single nucleotide variant NM_006502.2(POLH):c.1288T>C (p.Ser430Pro) 886061435 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43613703 43613703 T C 300266 single nucleotide variant NM_006502.2(POLH):c.1288T>C (p.Ser430Pro) 886061435 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43581440 43581440 T C 300267 single nucleotide variant NM_006502.2(POLH):c.1721G>A (p.Cys574Tyr) 761982554 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43614136 43614136 G A 300267 single nucleotide variant NM_006502.2(POLH):c.1721G>A (p.Cys574Tyr) 761982554 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43581873 43581873 G A 300268 single nucleotide variant NM_006502.2(POLH):c.2024C>A (p.Ser675Tyr) 151095678 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43614439 43614439 C A 300268 single nucleotide variant NM_006502.2(POLH):c.2024C>A (p.Ser675Tyr) 151095678 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582176 43582176 C A 300272 single nucleotide variant NM_006502.2(POLH):c.2028C>T (p.Ala676=) 140971385 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43614443 43614443 C T 300272 single nucleotide variant NM_006502.2(POLH):c.2028C>T (p.Ala676=) 140971385 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582180 43582180 C T 300275 single nucleotide variant NM_006502.2(POLH):c.*290C>T 6899628 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43614847 43614847 C T 300275 single nucleotide variant NM_006502.2(POLH):c.*290C>T 6899628 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582584 43582584 C T 300276 single nucleotide variant NM_006502.2(POLH):c.*865G>A 886061440 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615422 43615422 G A 300276 single nucleotide variant NM_006502.2(POLH):c.*865G>A 886061440 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583159 43583159 G A 300277 single nucleotide variant NM_006502.2(POLH):c.*985G>A 886061443 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615542 43615542 G A 300277 single nucleotide variant NM_006502.2(POLH):c.*985G>A 886061443 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583279 43583279 G A 300282 single nucleotide variant NM_006502.2(POLH):c.*998A>G 550215250 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615555 43615555 A G 300282 single nucleotide variant NM_006502.2(POLH):c.*998A>G 550215250 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583292 43583292 A G 300283 single nucleotide variant NM_006502.2(POLH):c.*1055A>T 115129476 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615612 43615612 A T 300283 single nucleotide variant NM_006502.2(POLH):c.*1055A>T 115129476 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583349 43583349 A T 300288 single nucleotide variant NM_006502.2(POLH):c.*1110A>T 112725367 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615667 43615667 A T 300288 single nucleotide variant NM_006502.2(POLH):c.*1110A>T 112725367 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583404 43583404 A T 300290 single nucleotide variant NM_006502.2(POLH):c.*1129A>T 28877272 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615686 43615686 A T 300290 single nucleotide variant NM_006502.2(POLH):c.*1129A>T 28877272 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583423 43583423 A T 300294 single nucleotide variant NM_006502.2(POLH):c.*1219A>T 886061447 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615776 43615776 A T 300294 single nucleotide variant NM_006502.2(POLH):c.*1219A>T 886061447 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583513 43583513 A T 300298 single nucleotide variant NM_006502.2(POLH):c.*1549C>T 186059509 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616106 43616106 C T 300298 single nucleotide variant NM_006502.2(POLH):c.*1549C>T 186059509 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583843 43583843 C T 300300 single nucleotide variant NM_006502.2(POLH):c.*1735A>G 886061450 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584029 43584029 A G 300300 single nucleotide variant NM_006502.2(POLH):c.*1735A>G 886061450 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616292 43616292 A G 300301 single nucleotide variant NM_006502.2(POLH):c.*1916C>T 772988854 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616473 43616473 C T 300301 single nucleotide variant NM_006502.2(POLH):c.*1916C>T 772988854 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584210 43584210 C T 300307 single nucleotide variant NM_006502.2(POLH):c.*2151A>G 190641689 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616708 43616708 A G 300307 single nucleotide variant NM_006502.2(POLH):c.*2151A>G 190641689 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584445 43584445 A G 300311 single nucleotide variant NM_006502.2(POLH):c.*2489C>T 6922830 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617046 43617046 C T 300311 single nucleotide variant NM_006502.2(POLH):c.*2489C>T 6922830 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584783 43584783 C T 300312 single nucleotide variant NM_006502.2(POLH):c.*2975C>A 112207298 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585269 43585269 C A 300312 single nucleotide variant NM_006502.2(POLH):c.*2975C>A 112207298 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617532 43617532 C A 300313 single nucleotide variant NM_006502.2(POLH):c.*3088G>A 373844625 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617645 43617645 G A 300313 single nucleotide variant NM_006502.2(POLH):c.*3088G>A 373844625 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585382 43585382 G A 300318 single nucleotide variant NM_006502.2(POLH):c.*3800T>C 184188381 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618357 43618357 T C 300318 single nucleotide variant NM_006502.2(POLH):c.*3800T>C 184188381 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586094 43586094 T C 300321 deletion NM_006502.2(POLH):c.*4531_*4532delAA 767288700 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619088 43619089 AA - 300321 deletion NM_006502.2(POLH):c.*4531_*4532delAA 767288700 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586825 43586826 AA - 300322 single nucleotide variant NM_006502.2(POLH):c.*4928T>C 556045922 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619485 43619485 T C 300322 single nucleotide variant NM_006502.2(POLH):c.*4928T>C 556045922 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587222 43587222 T C 300324 deletion NM_006502.2(POLH):c.*5142_*5146delATACA 886061474 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619699 43619703 ATACA - 300324 deletion NM_006502.2(POLH):c.*5142_*5146delATACA 886061474 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587436 43587440 ATACA - 300325 single nucleotide variant NM_006502.2(POLH):c.*5713T>C 75658777 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43620270 43620270 T C 300325 single nucleotide variant NM_006502.2(POLH):c.*5713T>C 75658777 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43588007 43588007 T C 300332 deletion NM_006502.2(POLH):c.*5936delA 200163087 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43620493 43620493 A - 300332 deletion NM_006502.2(POLH):c.*5936delA 200163087 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43588230 43588230 A - 303010 single nucleotide variant NM_006502.2(POLH):c.-285C>A 886061430 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576160 43576160 C A 303010 single nucleotide variant NM_006502.2(POLH):c.-285C>A 886061430 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43543897 43543897 C A 303012 single nucleotide variant NM_006502.2(POLH):c.-242C>G 56210561 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576203 43576203 C G 303012 single nucleotide variant NM_006502.2(POLH):c.-242C>G 56210561 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43543940 43543940 C G 303015 single nucleotide variant NM_006502.2(POLH):c.-216C>T 886061431 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576229 43576229 C T 303015 single nucleotide variant NM_006502.2(POLH):c.-216C>T 886061431 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43543966 43543966 C T 303016 single nucleotide variant NM_006502.2(POLH):c.232G>A (p.Ala78Thr) 372613817 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583101 43583101 G A 303016 single nucleotide variant NM_006502.2(POLH):c.232G>A (p.Ala78Thr) 372613817 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43550838 43550838 G A 303017 single nucleotide variant NM_006502.2(POLH):c.491-4T>G 185508862 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43565429 43565429 T G 303017 single nucleotide variant NM_006502.2(POLH):c.491-4T>G 185508862 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43597692 43597692 T G 303019 single nucleotide variant NM_006502.2(POLH):c.660+10A>C 56056074 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43565612 43565612 A C 303019 single nucleotide variant NM_006502.2(POLH):c.660+10A>C 56056074 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43597875 43597875 A C 303021 single nucleotide variant NM_006502.2(POLH):c.698A>G (p.Asn233Ser) 61756403 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43568762 43568762 A G 303021 single nucleotide variant NM_006502.2(POLH):c.698A>G (p.Asn233Ser) 61756403 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43601025 43601025 A G 303025 single nucleotide variant NM_006502.2(POLH):c.887C>T (p.Ser296Phe) 200149644 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43572354 43572354 C T 303025 single nucleotide variant NM_006502.2(POLH):c.887C>T (p.Ser296Phe) 200149644 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43604617 43604617 C T 303027 deletion NM_006502.2(POLH):c.1253_1255delCTC (p.Pro418del) 886061434 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43613668 43613670 CTC - 303027 deletion NM_006502.2(POLH):c.1253_1255delCTC (p.Pro418del) 886061434 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43581405 43581407 CTC - 303028 single nucleotide variant NM_006502.2(POLH):c.*371A>G 59061501 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43614928 43614928 A G 303028 single nucleotide variant NM_006502.2(POLH):c.*371A>G 59061501 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582665 43582665 A G 303030 single nucleotide variant NM_006502.2(POLH):c.*639G>A 9333557 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615196 43615196 G A 303030 single nucleotide variant NM_006502.2(POLH):c.*639G>A 9333557 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582933 43582933 G A 303038 single nucleotide variant NM_006502.2(POLH):c.*871G>A 886061441 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615428 43615428 G A 303038 single nucleotide variant NM_006502.2(POLH):c.*871G>A 886061441 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583165 43583165 G A 303039 single nucleotide variant NM_006502.2(POLH):c.*954C>T 886061442 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615511 43615511 C T 303039 single nucleotide variant NM_006502.2(POLH):c.*954C>T 886061442 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583248 43583248 C T 303042 single nucleotide variant NM_006502.2(POLH):c.*1091T>A 886061444 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615648 43615648 T A 303042 single nucleotide variant NM_006502.2(POLH):c.*1091T>A 886061444 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583385 43583385 T A 303043 single nucleotide variant NM_006502.2(POLH):c.*1139C>T 886061446 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615696 43615696 C T 303043 single nucleotide variant NM_006502.2(POLH):c.*1139C>T 886061446 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583433 43583433 C T 303044 single nucleotide variant NM_006502.2(POLH):c.*1201C>T 9333562 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615758 43615758 C T 303044 single nucleotide variant NM_006502.2(POLH):c.*1201C>T 9333562 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583495 43583495 C T 303052 single nucleotide variant NM_006502.2(POLH):c.*1764C>T 886061451 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584058 43584058 C T 303052 single nucleotide variant NM_006502.2(POLH):c.*1764C>T 886061451 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616321 43616321 C T 303066 single nucleotide variant NM_006502.2(POLH):c.*1841A>G 566505638 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616398 43616398 A G 303066 single nucleotide variant NM_006502.2(POLH):c.*1841A>G 566505638 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584135 43584135 A G 303068 single nucleotide variant NM_006502.2(POLH):c.*1959A>C 553213267 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616516 43616516 A C 303068 single nucleotide variant NM_006502.2(POLH):c.*1959A>C 553213267 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584253 43584253 A C 303077 duplication NM_006502.2(POLH):c.*2043dupA 886061456 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616600 43616600 A AA 303077 duplication NM_006502.2(POLH):c.*2043dupA 886061456 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584337 43584337 A AA 303078 single nucleotide variant NM_006502.2(POLH):c.*2080G>T 573463716 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616637 43616637 G T 303078 single nucleotide variant NM_006502.2(POLH):c.*2080G>T 573463716 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584374 43584374 G T 303079 single nucleotide variant NM_006502.2(POLH):c.*2269C>T 140288120 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616826 43616826 C T 303079 single nucleotide variant NM_006502.2(POLH):c.*2269C>T 140288120 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584563 43584563 C T 303098 single nucleotide variant NM_006502.2(POLH):c.*2441T>C 182931718 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616998 43616998 T C 303098 single nucleotide variant NM_006502.2(POLH):c.*2441T>C 182931718 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584735 43584735 T C 303099 single nucleotide variant NM_006502.2(POLH):c.*2600C>T 769907355 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617157 43617157 C T 303099 single nucleotide variant NM_006502.2(POLH):c.*2600C>T 769907355 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584894 43584894 C T 303100 single nucleotide variant NM_006502.2(POLH):c.*2659T>C 9462906 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617216 43617216 T C 303100 single nucleotide variant NM_006502.2(POLH):c.*2659T>C 9462906 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584953 43584953 T C 303106 indel NM_006502.2(POLH):c.*2812_*2820delGTAATCCCAinsCC 886061460 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617369 43617377 GTAATCCCA CC 303106 indel NM_006502.2(POLH):c.*2812_*2820delGTAATCCCAinsCC 886061460 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585106 43585114 GTAATCCCA CC 303110 deletion NM_006502.2(POLH):c.*3051_*3052delCA 886061461 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617608 43617609 CA - 303110 deletion NM_006502.2(POLH):c.*3051_*3052delCA 886061461 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585345 43585346 CA - 303122 single nucleotide variant NM_006502.2(POLH):c.*3238C>T 193130018 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617795 43617795 C T 303122 single nucleotide variant NM_006502.2(POLH):c.*3238C>T 193130018 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585532 43585532 C T 303123 single nucleotide variant NM_006502.2(POLH):c.*4112C>T 189826940 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586406 43586406 C T 303123 single nucleotide variant NM_006502.2(POLH):c.*4112C>T 189826940 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618669 43618669 C T 303127 single nucleotide variant NM_006502.2(POLH):c.*4368C>T 764661120 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618925 43618925 C T 303127 single nucleotide variant NM_006502.2(POLH):c.*4368C>T 764661120 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586662 43586662 C T 303140 duplication NM_006502.2(POLH):c.*4414dupG 55760315 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618971 43618971 G GG 303140 duplication NM_006502.2(POLH):c.*4414dupG 55760315 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586708 43586708 G GG 303143 single nucleotide variant NM_006502.2(POLH):c.*4624G>A 769857583 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619181 43619181 G A 303143 single nucleotide variant NM_006502.2(POLH):c.*4624G>A 769857583 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586918 43586918 G A 303145 deletion NM_006502.2(POLH):c.*4807delC 886061470 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619364 43619364 C - 303145 deletion NM_006502.2(POLH):c.*4807delC 886061470 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587101 43587101 C - 303147 duplication NM_006502.2(POLH):c.*4837dupA 886061471 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619394 43619394 A AA 303147 duplication NM_006502.2(POLH):c.*4837dupA 886061471 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587131 43587131 A AA 307460 single nucleotide variant NM_006502.2(POLH):c.-282A>G 779473846 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43543900 43543900 A G 307460 single nucleotide variant NM_006502.2(POLH):c.-282A>G 779473846 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576163 43576163 A G 307461 single nucleotide variant NM_006502.2(POLH):c.-195G>A 780824153 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576250 43576250 G A 307461 single nucleotide variant NM_006502.2(POLH):c.-195G>A 780824153 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43543987 43543987 G A 307462 deletion NM_006502.2(POLH):c.-87delC 886061432 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576358 43576358 C - 307462 deletion NM_006502.2(POLH):c.-87delC 886061432 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43544095 43544095 C - 307463 single nucleotide variant NM_006502.2(POLH):c.-62C>T 537011297 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576383 43576383 C T 307463 single nucleotide variant NM_006502.2(POLH):c.-62C>T 537011297 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43544120 43544120 C T 307472 single nucleotide variant NM_006502.2(POLH):c.1266T>C (p.Leu422=) 758340317 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43613681 43613681 T C 307472 single nucleotide variant NM_006502.2(POLH):c.1266T>C (p.Leu422=) 758340317 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43581418 43581418 T C 307474 single nucleotide variant NM_006502.2(POLH):c.1637A>G (p.Asn546Ser) 886061436 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43581789 43581789 A G 307474 single nucleotide variant NM_006502.2(POLH):c.1637A>G (p.Asn546Ser) 886061436 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43614052 43614052 A G 307476 single nucleotide variant NM_006502.2(POLH):c.1896A>G (p.Gln632=) 139476900 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43614311 43614311 A G 307476 single nucleotide variant NM_006502.2(POLH):c.1896A>G (p.Gln632=) 139476900 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582048 43582048 A G 307477 single nucleotide variant NM_006502.2(POLH):c.*50A>G 1064260 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43614607 43614607 A G 307477 single nucleotide variant NM_006502.2(POLH):c.*50A>G 1064260 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582344 43582344 A G 307478 single nucleotide variant NM_006502.2(POLH):c.*693C>T 9333558 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615250 43615250 C T 307478 single nucleotide variant NM_006502.2(POLH):c.*693C>T 9333558 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582987 43582987 C T 307486 single nucleotide variant NM_006502.2(POLH):c.*698C>T 570835057 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615255 43615255 C T 307486 single nucleotide variant NM_006502.2(POLH):c.*698C>T 570835057 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582992 43582992 C T 307492 single nucleotide variant NM_006502.2(POLH):c.*700T>C 886061439 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615257 43615257 T C 307492 single nucleotide variant NM_006502.2(POLH):c.*700T>C 886061439 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582994 43582994 T C 307493 single nucleotide variant NM_006502.2(POLH):c.*1364T>A 9333565 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615921 43615921 T A 307493 single nucleotide variant NM_006502.2(POLH):c.*1364T>A 9333565 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583658 43583658 T A 307494 single nucleotide variant NM_006502.2(POLH):c.*1846G>A 886061454 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616403 43616403 G A 307494 single nucleotide variant NM_006502.2(POLH):c.*1846G>A 886061454 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584140 43584140 G A 307500 single nucleotide variant NM_006502.2(POLH):c.*1858A>G 9472090 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616415 43616415 A G 307500 single nucleotide variant NM_006502.2(POLH):c.*1858A>G 9472090 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584152 43584152 A G 307504 single nucleotide variant NM_006502.2(POLH):c.*1940G>A 527613993 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616497 43616497 G A 307504 single nucleotide variant NM_006502.2(POLH):c.*1940G>A 527613993 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584234 43584234 G A 307506 single nucleotide variant NM_006502.2(POLH):c.*1984A>G 886061455 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616541 43616541 A G 307506 single nucleotide variant NM_006502.2(POLH):c.*1984A>G 886061455 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584278 43584278 A G 307507 duplication NM_006502.2(POLH):c.*2042_*2043dupAA 886061456 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616599 43616600 AA AAAA 307507 duplication NM_006502.2(POLH):c.*2042_*2043dupAA 886061456 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584336 43584337 AA AAAA 307516 single nucleotide variant NM_006502.2(POLH):c.*2692G>A 886061459 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617249 43617249 G A 307516 single nucleotide variant NM_006502.2(POLH):c.*2692G>A 886061459 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584986 43584986 G A 307518 single nucleotide variant NM_006502.2(POLH):c.*2725G>A 553948056 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617282 43617282 G A 307518 single nucleotide variant NM_006502.2(POLH):c.*2725G>A 553948056 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585019 43585019 G A 307529 single nucleotide variant NM_006502.2(POLH):c.*2901T>C 187347958 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617458 43617458 T C 307529 single nucleotide variant NM_006502.2(POLH):c.*2901T>C 187347958 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585195 43585195 T C 307533 single nucleotide variant NM_006502.2(POLH):c.*3067A>T 886061462 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617624 43617624 A T 307533 single nucleotide variant NM_006502.2(POLH):c.*3067A>T 886061462 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585361 43585361 A T 307537 single nucleotide variant NM_006502.2(POLH):c.*3225G>A 566903053 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617782 43617782 G A 307537 single nucleotide variant NM_006502.2(POLH):c.*3225G>A 566903053 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585519 43585519 G A 307556 single nucleotide variant NM_006502.2(POLH):c.*3335C>A 886061463 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617892 43617892 C A 307556 single nucleotide variant NM_006502.2(POLH):c.*3335C>A 886061463 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585629 43585629 C A 307557 single nucleotide variant NM_006502.2(POLH):c.*3670C>T 886061464 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618227 43618227 C T 307557 single nucleotide variant NM_006502.2(POLH):c.*3670C>T 886061464 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585964 43585964 C T 307567 single nucleotide variant NM_006502.2(POLH):c.*3744G>A 181271522 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618301 43618301 G A 307567 single nucleotide variant NM_006502.2(POLH):c.*3744G>A 181271522 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586038 43586038 G A 307568 single nucleotide variant NM_006502.2(POLH):c.*3769T>C 886061465 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618326 43618326 T C 307568 single nucleotide variant NM_006502.2(POLH):c.*3769T>C 886061465 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586063 43586063 T C 307569 single nucleotide variant NM_006502.2(POLH):c.*4271G>A 56786163 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586565 43586565 G A 307569 single nucleotide variant NM_006502.2(POLH):c.*4271G>A 56786163 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618828 43618828 G A 307583 single nucleotide variant NM_006502.2(POLH):c.*4310G>A 539003236 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586604 43586604 G A 307583 single nucleotide variant NM_006502.2(POLH):c.*4310G>A 539003236 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618867 43618867 G A 307584 duplication NM_006502.2(POLH):c.*4413_*4414dupGG 55760315 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586707 43586708 GG GGGG 307584 duplication NM_006502.2(POLH):c.*4413_*4414dupGG 55760315 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618970 43618971 GG GGGG 307608 deletion NM_006502.2(POLH):c.*4414delG 886061467 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618971 43618971 G - 307608 deletion NM_006502.2(POLH):c.*4414delG 886061467 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586708 43586708 G - 307610 single nucleotide variant NM_006502.2(POLH):c.*4511T>C 572839059 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619068 43619068 T C 307610 single nucleotide variant NM_006502.2(POLH):c.*4511T>C 572839059 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586805 43586805 T C 307612 single nucleotide variant NM_006502.2(POLH):c.*4633C>T 886061468 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619190 43619190 C T 307612 single nucleotide variant NM_006502.2(POLH):c.*4633C>T 886061468 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586927 43586927 C T 307619 single nucleotide variant NM_006502.2(POLH):c.*4767C>T 563377707 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619324 43619324 C T 307619 single nucleotide variant NM_006502.2(POLH):c.*4767C>T 563377707 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587061 43587061 C T 307626 deletion NM_006502.2(POLH):c.*4806delT 886061469 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619363 43619363 T - 307626 deletion NM_006502.2(POLH):c.*4806delT 886061469 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587100 43587100 T - 307627 single nucleotide variant NM_006502.2(POLH):c.*5007T>A 886061472 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619564 43619564 T A 307627 single nucleotide variant NM_006502.2(POLH):c.*5007T>A 886061472 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587301 43587301 T A 307628 single nucleotide variant NM_006502.2(POLH):c.*5349T>C 886061476 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619906 43619906 T C 307628 single nucleotide variant NM_006502.2(POLH):c.*5349T>C 886061476 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587643 43587643 T C 307629 single nucleotide variant NM_006502.2(POLH):c.*5630G>A 116106873 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43620187 43620187 G A 307629 single nucleotide variant NM_006502.2(POLH):c.*5630G>A 116106873 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587924 43587924 G A 307691 single nucleotide variant NM_006502.2(POLH):c.-288C>T 886061429 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576157 43576157 C T 307691 single nucleotide variant NM_006502.2(POLH):c.-288C>T 886061429 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43543894 43543894 C T 307692 single nucleotide variant NM_006502.2(POLH):c.-274C>A 185054720 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576171 43576171 C A 307692 single nucleotide variant NM_006502.2(POLH):c.-274C>A 185054720 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43543908 43543908 C A 307701 single nucleotide variant NM_006502.2(POLH):c.-239G>T 867581716 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576206 43576206 G T 307701 single nucleotide variant NM_006502.2(POLH):c.-239G>T 867581716 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43543943 43543943 G T 307703 single nucleotide variant NM_006502.2(POLH):c.-219T>A 750754629 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576226 43576226 T A 307703 single nucleotide variant NM_006502.2(POLH):c.-219T>A 750754629 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43543963 43543963 T A 307705 single nucleotide variant NM_006502.2(POLH):c.-98A>C 189835199 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43576347 43576347 A C 307705 single nucleotide variant NM_006502.2(POLH):c.-98A>C 189835199 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43544084 43544084 A C 307713 single nucleotide variant NM_006502.2(POLH):c.738C>T (p.Leu246=) 145530456 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43568802 43568802 C T 307713 single nucleotide variant NM_006502.2(POLH):c.738C>T (p.Leu246=) 145530456 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43601065 43601065 C T 307715 single nucleotide variant NM_006502.2(POLH):c.1074+7T>G 765856970 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43605326 43605326 T G 307715 single nucleotide variant NM_006502.2(POLH):c.1074+7T>G 765856970 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43573063 43573063 T G 307716 single nucleotide variant NM_006502.2(POLH):c.1483G>A (p.Glu495Lys) 759840056 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43613898 43613898 G A 307716 single nucleotide variant NM_006502.2(POLH):c.1483G>A (p.Glu495Lys) 759840056 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43581635 43581635 G A 307722 single nucleotide variant NM_006502.2(POLH):c.1870C>G (p.Pro624Ala) 886061437 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43614285 43614285 C G 307722 single nucleotide variant NM_006502.2(POLH):c.1870C>G (p.Pro624Ala) 886061437 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582022 43582022 C G 307724 single nucleotide variant NM_006502.2(POLH):c.*537C>T 55704248 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615094 43615094 C T 307724 single nucleotide variant NM_006502.2(POLH):c.*537C>T 55704248 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582831 43582831 C T 307726 single nucleotide variant NM_006502.2(POLH):c.*671C>T 886061438 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615228 43615228 C T 307726 single nucleotide variant NM_006502.2(POLH):c.*671C>T 886061438 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43582965 43582965 C T 307728 single nucleotide variant NM_006502.2(POLH):c.*952C>T 1141338 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615509 43615509 C T 307728 single nucleotide variant NM_006502.2(POLH):c.*952C>T 1141338 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583246 43583246 C T 307737 single nucleotide variant NM_006502.2(POLH):c.*1103A>G 886061445 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615660 43615660 A G 307737 single nucleotide variant NM_006502.2(POLH):c.*1103A>G 886061445 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583397 43583397 A G 307740 single nucleotide variant NM_006502.2(POLH):c.*1179G>A 9333561 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43615736 43615736 G A 307740 single nucleotide variant NM_006502.2(POLH):c.*1179G>A 9333561 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583473 43583473 G A 307743 duplication NM_006502.2(POLH):c.*1563dupA 886061448 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616120 43616120 A AA 307743 duplication NM_006502.2(POLH):c.*1563dupA 886061448 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583857 43583857 A AA 307746 single nucleotide variant NM_006502.2(POLH):c.*1615C>T 536734238 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583909 43583909 C T 307746 single nucleotide variant NM_006502.2(POLH):c.*1615C>T 536734238 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616172 43616172 C T 307749 single nucleotide variant NM_006502.2(POLH):c.*1650G>A 886061449 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43583944 43583944 G A 307749 single nucleotide variant NM_006502.2(POLH):c.*1650G>A 886061449 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616207 43616207 G A 307751 single nucleotide variant NM_006502.2(POLH):c.*1815T>C 886061452 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584109 43584109 T C 307751 single nucleotide variant NM_006502.2(POLH):c.*1815T>C 886061452 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616372 43616372 T C 307752 single nucleotide variant NM_006502.2(POLH):c.*1819A>G 886061453 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616376 43616376 A G 307752 single nucleotide variant NM_006502.2(POLH):c.*1819A>G 886061453 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584113 43584113 A G 307754 single nucleotide variant NM_006502.2(POLH):c.*2074C>T 886061457 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616631 43616631 C T 307754 single nucleotide variant NM_006502.2(POLH):c.*2074C>T 886061457 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584368 43584368 C T 307757 single nucleotide variant NM_006502.2(POLH):c.*2280A>C 886061458 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43616837 43616837 A C 307757 single nucleotide variant NM_006502.2(POLH):c.*2280A>C 886061458 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584574 43584574 A C 307765 single nucleotide variant NM_006502.2(POLH):c.*2513A>T 111841811 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617070 43617070 A T 307765 single nucleotide variant NM_006502.2(POLH):c.*2513A>T 111841811 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43584807 43584807 A T 307766 single nucleotide variant NM_006502.2(POLH):c.*3416G>C 577482466 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43617973 43617973 G C 307766 single nucleotide variant NM_006502.2(POLH):c.*3416G>C 577482466 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585710 43585710 G C 307767 single nucleotide variant NM_006502.2(POLH):c.*3685G>A 867865820 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618242 43618242 G A 307767 single nucleotide variant NM_006502.2(POLH):c.*3685G>A 867865820 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585979 43585979 G A 307773 single nucleotide variant NM_006502.2(POLH):c.*3692G>A 568140214 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618249 43618249 G A 307773 single nucleotide variant NM_006502.2(POLH):c.*3692G>A 568140214 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43585986 43585986 G A 307774 single nucleotide variant NM_006502.2(POLH):c.*3753C>T 373349453 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618310 43618310 C T 307774 single nucleotide variant NM_006502.2(POLH):c.*3753C>T 373349453 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586047 43586047 C T 307790 single nucleotide variant NM_006502.2(POLH):c.*3847G>A 145612937 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618404 43618404 G A 307790 single nucleotide variant NM_006502.2(POLH):c.*3847G>A 145612937 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586141 43586141 G A 307798 deletion NM_006502.2(POLH):c.*4393_*4397delTATTT 886061466 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43586687 43586691 TATTT - 307798 deletion NM_006502.2(POLH):c.*4393_*4397delTATTT 886061466 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43618950 43618954 TATTT - 307799 single nucleotide variant NM_006502.2(POLH):c.*4734G>A 192191937 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619291 43619291 G A 307799 single nucleotide variant NM_006502.2(POLH):c.*4734G>A 192191937 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587028 43587028 G A 307800 deletion NM_006502.2(POLH):c.*5075_*5076delAG 886061473 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619632 43619633 AG - 307800 deletion NM_006502.2(POLH):c.*5075_*5076delAG 886061473 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587369 43587370 AG - 307808 single nucleotide variant NM_006502.2(POLH):c.*5199A>G 886061475 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43619756 43619756 A G 307808 single nucleotide variant NM_006502.2(POLH):c.*5199A>G 886061475 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587493 43587493 A G 307809 single nucleotide variant NM_006502.2(POLH):c.*5697G>A 113410952 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43620254 43620254 G A 307809 single nucleotide variant NM_006502.2(POLH):c.*5697G>A 113410952 MedGen:C0043346,Orphanet:ORPHA910,SNOMED CT:C0043346 6 43587991 43587991 G A

Disease associated variation - OMIM Ensembl_gene_ID Approved Gene Symbol MIM Number ENSG00000170734.11 POLH 603968