POLQ — 3442 ClinVar variants
All ClinVar germline POLQ variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2269 flagged for review →
3 Conflicting · 41 Benign · 5 Benign/Likely benign · 1022 Likely benign · 2371 Uncertain significance
Full POLQ gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2269
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
POLQ p.Asn1130Tyr
Conflicting
Single submitter
POLQ-related disorder
Predictors lean, ClinVar uncertain 2015
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 2015
-
POLQ p.Arg2169Cys
Uncertain significance
Multiple submitters
POLQ-related disorder
-
POLQ p.Cys2219Tyr
Uncertain significance
Multiple submitters
POLQ-related disorder
-
POLQ p.Glu2246Lys
Uncertain significance
Multiple submitters
POLQ-related disorder
-
POLQ p.Glu731Ala
Uncertain significance
Multiple submitters
POLQ-related disorder
-
POLQ p.Lys68Glu
Uncertain significance
Multiple submitters
POLQ-related disorder
-
POLQ p.Met1707Val
Uncertain significance
Multiple submitters
POLQ-related disorder
-
POLQ p.Thr1010Ala
Uncertain significance
Multiple submitters
POLQ-related disorder
-
POLQ p.Thr1544Ile
Uncertain significance
Multiple submitters
POLQ-related disorder
- POLQ p.Ala1003Gly Uncertain significance Single submitter
- POLQ p.Ala1003Val Uncertain significance Single submitter
- POLQ p.Ala1062Val Uncertain significance Single submitter
- POLQ p.Ala1098Ser Uncertain significance Single submitter
-
POLQ p.Ala1150Pro
Uncertain significance
Single submitter
hereditary breast carcinoma
- POLQ p.Ala1150Thr Uncertain significance Single submitter
- POLQ p.Ala1150Val Uncertain significance Single submitter
- POLQ p.Ala115Val Uncertain significance Single submitter
- POLQ p.Ala1162Pro Uncertain significance Single submitter
- POLQ p.Ala1162Thr Uncertain significance Single submitter
- POLQ p.Ala119Ser Uncertain significance Single submitter
- POLQ p.Ala119Thr Uncertain significance Single submitter
- POLQ p.Ala1222Val Uncertain significance Single submitter
- POLQ p.Ala1254Glu Uncertain significance Single submitter
- POLQ p.Ala1254Ser Uncertain significance Single submitter
- POLQ p.Ala125Thr Uncertain significance Single submitter
- POLQ p.Ala1340Ser Uncertain significance Single submitter
- POLQ p.Ala1350Glu Uncertain significance Single submitter
- POLQ p.Ala1350Val Uncertain significance Single submitter
- POLQ p.Ala1351Ser Uncertain significance Single submitter
- POLQ p.Ala1377Thr Uncertain significance Single submitter
- POLQ p.Ala1384Thr Uncertain significance Single submitter
- POLQ p.Ala1569Pro Uncertain significance Single submitter
- POLQ p.Ala1569Thr Uncertain significance Single submitter
- POLQ p.Ala1590Thr Uncertain significance Single submitter
- POLQ p.Ala1615Thr Uncertain significance Single submitter
- POLQ p.Ala1634Ser Uncertain significance Single submitter
- POLQ p.Ala1634Thr Uncertain significance Single submitter
- POLQ p.Ala1712Val Uncertain significance Single submitter
- POLQ p.Ala1818Gly Uncertain significance Single submitter
- POLQ p.Ala1818Val Uncertain significance Single submitter
- POLQ p.Ala1868Gly Uncertain significance Single submitter
- POLQ p.Ala1868Thr Uncertain significance Single submitter
- POLQ p.Ala187Ser Uncertain significance Single submitter
- POLQ p.Ala1904Glu Uncertain significance Single submitter
- POLQ p.Ala1912Val Uncertain significance Single submitter
- POLQ p.Ala1928Val Uncertain significance Single submitter
- POLQ p.Ala194Asp Uncertain significance Single submitter
- POLQ p.Ala2046Val Uncertain significance Single submitter
- POLQ p.Ala2097Glu Uncertain significance Single submitter
- POLQ p.Ala2097Thr Uncertain significance Single submitter
- POLQ p.Ala2097Val Uncertain significance Single submitter
- POLQ p.Ala2108Gly Uncertain significance Single submitter
- POLQ p.Ala2108Thr Uncertain significance Single submitter
- POLQ p.Ala2121Asp Uncertain significance Single submitter
- POLQ p.Ala2121Ser Uncertain significance Single submitter
- POLQ p.Ala2134Ser Uncertain significance Single submitter
- POLQ p.Ala2206Thr Uncertain significance Single submitter
- POLQ p.Ala2238Ser Uncertain significance Single submitter
- POLQ p.Ala2356Asp Uncertain significance Single submitter
- POLQ p.Ala2356Thr Uncertain significance Single submitter
- POLQ p.Ala2363Pro Uncertain significance Single submitter
- POLQ p.Ala2363Val Uncertain significance Single submitter
- POLQ p.Ala2364Thr Uncertain significance Single submitter
- POLQ p.Ala2382Gly Uncertain significance Single submitter
- POLQ p.Ala2382Pro Uncertain significance Single submitter
- POLQ p.Ala2409Gly Uncertain significance Single submitter
- POLQ p.Ala2409Ser Uncertain significance Single submitter
- POLQ p.Ala2409Val Uncertain significance Single submitter
- POLQ p.Ala2410Pro Uncertain significance Single submitter
- POLQ p.Ala2410Ser Uncertain significance Single submitter
- POLQ p.Ala2410Thr Uncertain significance Single submitter
- POLQ p.Ala245Thr Uncertain significance Single submitter
- POLQ p.Ala2468Gly Uncertain significance Single submitter
- POLQ p.Ala2468Thr Uncertain significance Single submitter
- POLQ p.Ala2477Glu Uncertain significance Single submitter
- POLQ p.Ala249Ser Uncertain significance Single submitter
- POLQ p.Ala249Thr Uncertain significance Single submitter
- POLQ p.Ala252Asp Uncertain significance Single submitter
- POLQ p.Ala2547Thr Uncertain significance Single submitter
- POLQ p.Ala2580Thr Uncertain significance Single submitter
- POLQ p.Ala266Asp Uncertain significance Single submitter
- POLQ p.Ala280Asp Uncertain significance Single submitter
- POLQ p.Ala354Glu Uncertain significance Single submitter
- POLQ p.Ala358Ser Uncertain significance Single submitter
- POLQ p.Ala358Val Uncertain significance Single submitter
- POLQ p.Ala414Pro Uncertain significance Single submitter
- POLQ p.Ala414Thr Uncertain significance Single submitter
- POLQ p.Ala414Val Uncertain significance Single submitter
- POLQ p.Ala418Glu Uncertain significance Single submitter
- POLQ p.Ala431Asp Uncertain significance Single submitter
- POLQ p.Ala431Pro Uncertain significance Single submitter
- POLQ p.Ala441Glu Uncertain significance Single submitter
- POLQ p.Ala441Ser Uncertain significance Single submitter
- POLQ p.Ala441Thr Uncertain significance Single submitter
- POLQ p.Ala441Val Uncertain significance Single submitter
- POLQ p.Ala506Gly Uncertain significance Single submitter
- POLQ p.Ala51Ser Uncertain significance Single submitter
- POLQ p.Ala544Ser Uncertain significance Single submitter
- POLQ p.Ala555Gly Uncertain significance Single submitter
- POLQ p.Ala581Ser Uncertain significance Single submitter
- POLQ p.Ala581Thr Uncertain significance Single submitter
- POLQ p.Ala584Ser Uncertain significance Single submitter
- POLQ p.Ala600Gly Uncertain significance Single submitter
- POLQ p.Ala617Asp Uncertain significance Single submitter
- POLQ p.Ala626Gly Uncertain significance Single submitter
- POLQ p.Ala638Glu Uncertain significance Single submitter
- POLQ p.Ala638Thr Uncertain significance Single submitter
- POLQ p.Ala695Val Uncertain significance Single submitter
- POLQ p.Ala755Pro Uncertain significance Single submitter
- POLQ p.Ala759Glu Uncertain significance Single submitter
- POLQ p.Ala759Pro Uncertain significance Single submitter
- POLQ p.Ala759Ser Uncertain significance Single submitter
- POLQ p.Ala804Pro Uncertain significance Single submitter
- POLQ p.Ala804Ser Uncertain significance Single submitter
- POLQ p.Ala807Thr Uncertain significance Single submitter
- POLQ p.Ala819Gly Uncertain significance Single submitter
- POLQ p.Ala819Val Uncertain significance Single submitter
- POLQ p.Ala822Ser Uncertain significance Single submitter
- POLQ p.Ala824Pro Uncertain significance Single submitter
- POLQ p.Ala836Ser Uncertain significance Single submitter
- POLQ p.Ala842Gly Uncertain significance Single submitter
- POLQ p.Ala842Ser Uncertain significance Single submitter
- POLQ p.Ala842Thr Uncertain significance Single submitter
- POLQ p.Ala845Thr Uncertain significance Single submitter
- POLQ p.Ala875Thr Uncertain significance Single submitter
- POLQ p.Ala883Asp Uncertain significance Single submitter
- POLQ p.Ala902Thr Uncertain significance Single submitter
- POLQ p.Ala97Thr Uncertain significance Single submitter
- POLQ p.Ala988Gly Uncertain significance Single submitter
- POLQ p.Ala992Val Uncertain significance Single submitter
- POLQ p.Arg1045Gly Uncertain significance Single submitter
- POLQ p.Arg1045Ile Uncertain significance Single submitter
- POLQ p.Arg1050Pro Uncertain significance Single submitter
- POLQ p.Arg1052Ser Uncertain significance Single submitter
- POLQ p.Arg1064Gly Uncertain significance Single submitter
- POLQ p.Arg1064Ile Uncertain significance Single submitter
- POLQ p.Arg1092Ile Uncertain significance Single submitter
- POLQ p.Arg1092Ser Uncertain significance Single submitter
- POLQ p.Arg1159Gly Uncertain significance Single submitter
- POLQ p.Arg1159Ile Uncertain significance Single submitter
- POLQ p.Arg1229Gly Uncertain significance Single submitter
- POLQ p.Arg1261Gly Uncertain significance Single submitter
- POLQ p.Arg1290Gly Uncertain significance Single submitter
- POLQ p.Arg1290Ser Uncertain significance Single submitter
- POLQ p.Arg132Gln Uncertain significance Single submitter
- POLQ p.Arg132Pro Uncertain significance Single submitter
- POLQ p.Arg137Gln Uncertain significance Single submitter
- POLQ p.Arg137Gly Uncertain significance Single submitter
- POLQ p.Arg1466Gly Uncertain significance Single submitter
- POLQ p.Arg1466Thr Uncertain significance Single submitter
- POLQ p.Arg1589Gly Uncertain significance Single submitter
Predictors split 253
The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 253
-
POLQ p.Arg2347Cys
Uncertain significance
Multiple submitters
POLQ-related disorder
-
POLQ p.Trp661Gly
Likely benign
Multiple submitters
POLQ-related disorder
- POLQ p.Ala1855Thr Uncertain significance Single submitter
- POLQ p.Ala2046Thr Uncertain significance Single submitter
- POLQ p.Ala2317Val Uncertain significance Single submitter
- POLQ p.Ala2328Gly Uncertain significance Single submitter
- POLQ p.Ala2410Val Uncertain significance Single submitter
- POLQ p.Ala2565Ser Uncertain significance Single submitter
- POLQ p.Ala431Thr Uncertain significance Single submitter
- POLQ p.Ala442Val Uncertain significance Single submitter
- POLQ p.Ala555Val Uncertain significance Single submitter
- POLQ p.Ala695Asp Uncertain significance Single submitter
- POLQ p.Arg137Trp Uncertain significance Single submitter
- POLQ p.Arg1845Trp Uncertain significance Single submitter
- POLQ p.Arg1944Gly Uncertain significance Single submitter
- POLQ p.Arg1944Ser Uncertain significance Single submitter
- POLQ p.Arg200Leu Uncertain significance Single submitter
- POLQ p.Arg2043Pro Uncertain significance Single submitter
- POLQ p.Arg2202Thr Uncertain significance Single submitter
- POLQ p.Arg2216Pro Uncertain significance Single submitter
- POLQ p.Arg2347Gly Uncertain significance Single submitter
- POLQ p.Arg2436Gly Uncertain significance Single submitter
- POLQ p.Arg2447His Uncertain significance Single submitter
- POLQ p.Arg425Lys Uncertain significance Single submitter
- POLQ p.Arg433Cys Uncertain significance Single submitter
- POLQ p.Arg433Leu Uncertain significance Single submitter
- POLQ p.Arg455His Uncertain significance Single submitter
- POLQ p.Arg533Leu Uncertain significance Single submitter
- POLQ p.Arg637Ser Uncertain significance Single submitter
- POLQ p.Arg784Cys Uncertain significance Single submitter
- POLQ p.Arg806Gly Uncertain significance Single submitter
- POLQ p.Arg843Pro Uncertain significance Single submitter
- POLQ p.Arg856Gly Uncertain significance Single submitter
- POLQ p.Arg856Leu Uncertain significance Single submitter
- POLQ p.Arg856Ser Uncertain significance Single submitter
- POLQ p.Asn195Ser Uncertain significance Single submitter
- POLQ p.Asn199Ser Uncertain significance Single submitter
- POLQ p.Asn2068Thr Uncertain significance Single submitter
- POLQ p.Asn2205Lys Uncertain significance Single submitter
- POLQ p.Asn2221Lys Uncertain significance Single submitter
- POLQ p.Asn2457His Uncertain significance Single submitter
- POLQ p.Asn2457Lys Uncertain significance Single submitter
- POLQ p.Asn279Thr Uncertain significance Single submitter
- POLQ p.Asp1439His Uncertain significance Single submitter
- POLQ p.Asp1911Tyr Uncertain significance Single submitter
- POLQ p.Asp1943Val Uncertain significance Single submitter
- POLQ p.Asp208Val Uncertain significance Single submitter
- POLQ p.Asp223Glu Uncertain significance Single submitter
- POLQ p.Asp2255Gly Uncertain significance Single submitter
- POLQ p.Asp2408Asn Uncertain significance Single submitter
- POLQ p.Asp2587Tyr Uncertain significance Single submitter
- POLQ p.Asp324Asn Uncertain significance Single submitter
- POLQ p.Asp402Glu Uncertain significance Single submitter
- POLQ p.Asp402His Uncertain significance Single submitter
- POLQ p.Asp426Ala Uncertain significance Single submitter
- POLQ p.Asp426Val Uncertain significance Single submitter
- POLQ p.Asp647Glu Uncertain significance Single submitter
- POLQ p.Asp795Gly Uncertain significance Single submitter
- POLQ p.Asp890Val Uncertain significance Single submitter
- POLQ p.Cys1856Arg Uncertain significance Single submitter
- POLQ p.Cys1856Tyr Uncertain significance Single submitter
- POLQ p.Cys1906Tyr Uncertain significance Single submitter
- POLQ p.Cys1951Arg Uncertain significance Single submitter
- POLQ p.Cys1993Arg Uncertain significance Single submitter
- POLQ p.Cys518Tyr Uncertain significance Single submitter
- POLQ p.Cys794Arg Uncertain significance Single submitter
- POLQ p.Gln2102Arg Uncertain significance Single submitter
- POLQ p.Gln2537His Uncertain significance Single submitter
- POLQ p.Gln406Pro Uncertain significance Single submitter
- POLQ p.Gln509Pro Uncertain significance Single submitter
- POLQ p.Gln548Pro Uncertain significance Single submitter
- POLQ p.Gln596Pro Uncertain significance Single submitter
- POLQ p.Gln636Arg Uncertain significance Single submitter
- POLQ p.Gln636Lys Uncertain significance Single submitter
- POLQ p.Gln747His Uncertain significance Single submitter
- POLQ p.Glu1843Asp Uncertain significance Single submitter
- POLQ p.Glu2002Gly Uncertain significance Single submitter
- POLQ p.Glu2049Lys Uncertain significance Single submitter
- POLQ p.Glu2049Val Uncertain significance Single submitter
- POLQ p.Glu204Lys Uncertain significance Single submitter
- POLQ p.Glu2077Asp Uncertain significance Single submitter
- POLQ p.Glu2100Gly Uncertain significance Single submitter
- POLQ p.Glu2114Asp Uncertain significance Single submitter
- POLQ p.Glu2365Lys Uncertain significance Single submitter
- POLQ p.Glu2406Ala Uncertain significance Single submitter
- POLQ p.Glu2561Lys Uncertain significance Single submitter
- POLQ p.Glu2563Gln Uncertain significance Single submitter
- POLQ p.Glu332Asp Uncertain significance Single submitter
- POLQ p.Glu424Asp Uncertain significance Single submitter
- POLQ p.Glu591Val Uncertain significance Single submitter
- POLQ p.Glu593Ala Uncertain significance Single submitter
- POLQ p.Glu674Gly Uncertain significance Single submitter
- POLQ p.Glu690Asp Uncertain significance Single submitter
- POLQ p.Glu691Gln Uncertain significance Single submitter
- POLQ p.Gly103Arg Uncertain significance Single submitter
- POLQ p.Gly165Ala Uncertain significance Single submitter
- POLQ p.Gly2042Arg Uncertain significance Single submitter
- POLQ p.Gly2042Glu Uncertain significance Single submitter
- POLQ p.Gly2324Arg Uncertain significance Single submitter
- POLQ p.Gly2355Ala Uncertain significance Single submitter
- POLQ p.Gly2403Asp Uncertain significance Single submitter
- POLQ p.Gly2445Arg Uncertain significance Single submitter
- POLQ p.Gly2531Glu Uncertain significance Single submitter
- POLQ p.Gly2531Val Uncertain significance Single submitter
- POLQ p.Gly2583Arg Uncertain significance Single submitter
- POLQ p.Gly299Glu Uncertain significance Single submitter
- POLQ p.Gly321Arg Uncertain significance Single submitter
- POLQ p.Gly412Arg Uncertain significance Single submitter
- POLQ p.Gly435Ser Uncertain significance Single submitter
- POLQ p.Gly641Arg Uncertain significance Single submitter
- POLQ p.Gly700Arg Uncertain significance Single submitter
- POLQ p.Gly742Arg Uncertain significance Single submitter
- POLQ p.Gly742Glu Uncertain significance Single submitter
- POLQ p.Gly895Arg Uncertain significance Single submitter
- POLQ p.His219Gln Uncertain significance Single submitter
- POLQ p.His2316Arg Uncertain significance Single submitter
- POLQ p.His2341Tyr Uncertain significance Single submitter
- POLQ p.His2463Arg Uncertain significance Single submitter
- POLQ p.His2463Asn Uncertain significance Single submitter
- POLQ p.His325Gln Uncertain significance Single submitter
- POLQ p.His710Pro Uncertain significance Single submitter
- POLQ p.Ile1735Ser Uncertain significance Single submitter
- POLQ p.Ile191Leu Uncertain significance Single submitter
- POLQ p.Ile202Thr Uncertain significance Single submitter
- POLQ p.Ile2051Ser Uncertain significance Single submitter
- POLQ p.Ile2312Ser Uncertain significance Single submitter
- POLQ p.Ile2404Phe Uncertain significance Single submitter
- POLQ p.Ile2472Lys Uncertain significance Single submitter
- POLQ p.Ile2480Thr Uncertain significance Single submitter
- POLQ p.Ile2480Val Uncertain significance Single submitter
- POLQ p.Ile302Met Uncertain significance Single submitter
- POLQ p.Ile595Met Uncertain significance Single submitter
- POLQ p.Ile631Phe Uncertain significance Single submitter
- POLQ p.Leu100Phe Uncertain significance Single submitter
- POLQ p.Leu106Val Uncertain significance Single submitter
- POLQ p.Leu1324Pro Uncertain significance Single submitter
- POLQ p.Leu1446Pro Uncertain significance Single submitter
- POLQ p.Leu1642Arg Uncertain significance Single submitter
- POLQ p.Leu1646Ser Uncertain significance Single submitter
- POLQ p.Leu1854Met Uncertain significance Single submitter
- POLQ p.Leu1974Ile Uncertain significance Single submitter
- POLQ p.Leu2052Phe Uncertain significance Single submitter
- POLQ p.Leu2086Ser Uncertain significance Single submitter
- POLQ p.Leu233Phe Uncertain significance Single submitter
- POLQ p.Leu2342Val Uncertain significance Single submitter
- POLQ p.Leu2542Ile Uncertain significance Single submitter
- POLQ p.Leu2543Gln Uncertain significance Single submitter
- POLQ p.Leu309Arg Uncertain significance Single submitter
- POLQ p.Leu536Val Uncertain significance Single submitter
- POLQ p.Leu559Val Uncertain significance Single submitter
All POLQ variants
Conflicting classifications of pathogenicity 3
- p.Asn1130Tyr Single submitter POLQ-related disorder ⚠
- p.Ile1421fs Single submitter hereditary breast ovarian cancer syndrome
- p.Phe1665= Single submitter POLQ-related disorder
Benign 41
- p.Arg516Cys Multiple submitters POLQ-related disorder
- p.Asn960= Multiple submitters
- p.Asp1784Tyr Multiple submitters
- p.Gln1565His Multiple submitters
- p.Glu964Ala Multiple submitters
- p.Gly479= Multiple submitters hereditary breast carcinoma
- p.His1545Gln Multiple submitters
- p.His225Tyr Multiple submitters
- p.His921= Multiple submitters
- p.Pro1056Leu Multiple submitters
- p.Pro291= Multiple submitters
- c.1816+53T>G Single submitter hereditary breast carcinoma
- c.1959+8C>G Single submitter hereditary breast carcinoma
- c.2153+27C>T Single submitter hereditary breast carcinoma
- c.5629+119C>A Single submitter hereditary breast carcinoma
- c.5970+100_5970+101del Single submitter hereditary breast carcinoma
- c.6405+55GT[14] Single submitter hereditary breast carcinoma
- c.6406-16C>T Single submitter hereditary breast carcinoma
- c.6846-56T>C Single submitter hereditary breast carcinoma
- c.7153-71C>T Single submitter hereditary breast carcinoma
- c.*691T>C Single submitter hereditary breast carcinoma
- p.Ala2304Val Single submitter hereditary breast carcinoma
- p.Ala441= Single submitter hereditary breast carcinoma
- p.Ala581Val Single submitter hereditary breast carcinoma
- p.Arg66Ile Single submitter hereditary breast carcinoma
- p.Gln2513Arg Single submitter hereditary breast carcinoma
- p.His1201Arg Single submitter hereditary breast carcinoma
- p.Leu2538Val Single submitter hereditary breast carcinoma
- p.Lys1025del Single submitter hereditary breast carcinoma
- p.Lys91Asn Single submitter
- p.Phe181= Single submitter hereditary breast carcinoma
- p.Pro1381Thr Single submitter
- p.Ser962Gly Single submitter hereditary breast carcinoma
- p.Thr982Arg Single submitter hereditary breast carcinoma
- p.Val310Gly Single submitter hereditary breast carcinoma
- p.Ala2547Val No assertion criteria POLQ-related disorder
- p.Arg1953Gln No assertion criteria POLQ-related disorder
- p.Asp1562Tyr No assertion criteria POLQ-related disorder
- p.Gly1256Glu No assertion criteria POLQ-related disorder
- p.Ile729= No assertion criteria POLQ-related disorder
- p.Val2183Ile No assertion criteria POLQ-related disorder
Benign/Likely benign 5
- p.Ala115= Multiple submitters
- p.Ala2464Thr Multiple submitters hereditary breast carcinoma
- p.Asn1339= Multiple submitters hereditary breast carcinoma
- p.Gly1751Trp Multiple submitters POLQ-related disorder
- p.Ser1879Leu Multiple submitters
Likely benign 1022
Showing the top 300 by review status; the full set is in the sitemap.
- p.Ala845= Multiple submitters
- p.Gln1017Lys Multiple submitters
- p.Ser1123= Multiple submitters
- p.Trp661Gly Multiple submitters POLQ-related disorder ⚠
- p.Tyr64= Multiple submitters
- c.7264+40A>T Single submitter hereditary breast carcinoma
- p.Ala1003= Single submitter
- p.Ala1003Thr Single submitter
- p.Ala1026Thr Single submitter
- p.Ala1062= Single submitter
- p.Ala1222= Single submitter
- p.Ala125= Single submitter
- p.Ala1254= Single submitter
- p.Ala1254Val Single submitter
- p.Ala1272Thr Single submitter
- p.Ala1274= Single submitter
- p.Ala1336= Single submitter
- p.Ala1344= Single submitter
- p.Ala1350= Single submitter
- p.Ala1377= Single submitter
- p.Ala1384= Single submitter
- p.Ala140= Single submitter
- p.Ala1569= Single submitter
- p.Ala1590= Single submitter
- p.Ala1634= Single submitter
- p.Ala1712= Single submitter
- p.Ala1744= Single submitter
- p.Ala1818= Single submitter
- p.Ala1868= Single submitter
- p.Ala187= Single submitter
- p.Ala1877Val Single submitter
- p.Ala194= Single submitter
- p.Ala1992= Single submitter
- p.Ala2036= Single submitter
- p.Ala2085= Single submitter
- p.Ala2097= Single submitter
- p.Ala2108= Single submitter
- p.Ala2112= Single submitter
- p.Ala2238= Single submitter
- p.Ala2272= Single submitter
- p.Ala2304= Single submitter
- p.Ala2304Ser Single submitter
- p.Ala2329= Single submitter
- p.Ala2340= Single submitter
- p.Ala2363= Single submitter
- p.Ala2364= Single submitter
- p.Ala2409= Single submitter
- p.Ala2410= Single submitter
- p.Ala245= Single submitter
- p.Ala2462= Single submitter
- p.Ala2464= Single submitter
- p.Ala2477= Single submitter
- p.Ala2478= Single submitter
- p.Ala249= Single submitter
- p.Ala252= Single submitter
- p.Ala2547= Single submitter
- p.Ala2565= Single submitter
- p.Ala258= Single submitter
- p.Ala266= Single submitter
- p.Ala275= Single submitter
- p.Ala414= Single submitter
- p.Ala431= Single submitter
- p.Ala454= Single submitter
- p.Ala561= Single submitter
- p.Ala581= Single submitter
- p.Ala695= Single submitter
- p.Ala704= Single submitter
- p.Ala714= Single submitter
- p.Ala72= Single submitter
- p.Ala72Thr Single submitter POLQ-related disorder
- p.Ala755= Single submitter
- p.Ala79= Single submitter
- p.Ala804= Single submitter
- p.Ala852= Single submitter
- p.Ala875= Single submitter
- p.Ala877= Single submitter
- p.Ala902= Single submitter
- p.Ala902Ser Single submitter
- p.Ala97= Single submitter
- p.Ala988= Single submitter
- p.Arg10= Single submitter
- p.Arg1040= Single submitter
- p.Arg1044= Single submitter
- p.Arg1044His Single submitter
- p.Arg1050= Single submitter
- p.Arg1052= Single submitter
- p.Arg1092= Single submitter
- p.Arg1197Gln Single submitter
- p.Arg1229= Single submitter
- p.Arg1261Ser Single submitter
- p.Arg137= Single submitter
- p.Arg1624= Single submitter
- p.Arg1670= Single submitter
- p.Arg1723Cys Single submitter
- p.Arg179= Single submitter
- p.Arg1845Gln Single submitter
- p.Arg1849Gln Single submitter
- p.Arg1886= Single submitter
- p.Arg1953= Single submitter
- p.Arg200= Single submitter
- p.Arg2043= Single submitter
- p.Arg2074Cys Single submitter
- p.Arg2162= Single submitter
- p.Arg2172Lys Single submitter
- p.Arg2202= Single submitter
- p.Arg2216= Single submitter
- p.Arg2228= Single submitter
- p.Arg2282= Single submitter
- p.Arg2294= Single submitter
- p.Arg2294Gly Single submitter
- p.Arg2306= Single submitter
- p.Arg2315= Single submitter
- p.Arg2346His Single submitter
- p.Arg2379= Single submitter
- p.Arg242= Single submitter
- p.Arg242Gln Single submitter
- p.Arg2436= Single submitter
- p.Arg2448= Single submitter
- p.Arg2460His Single submitter
- p.Arg2518Pro Single submitter
- p.Arg2520= Single submitter
- p.Arg395= Single submitter
- p.Arg425= Single submitter
- p.Arg438= Single submitter
- p.Arg467Gln Single submitter
- p.Arg516= Single submitter
- p.Arg521= Single submitter
- p.Arg522= Single submitter
- p.Arg522Gln Single submitter
- p.Arg66= Single submitter
- p.Arg682= Single submitter
- p.Arg705= Single submitter
- p.Arg708= Single submitter
- p.Arg711= Single submitter
- p.Arg735= Single submitter
- p.Arg791= Single submitter
- p.Arg798= Single submitter
- p.Arg808= Single submitter
- p.Arg843= Single submitter
- p.Arg857= Single submitter
- p.Arg867= Single submitter
- p.Arg987= Single submitter
- p.Arg989= Single submitter
- p.Asn1031= Single submitter
- p.Asn1031Ser Single submitter
- p.Asn1093= Single submitter
- p.Asn1121= Single submitter
- p.Asn1179= Single submitter
- p.Asn1181= Single submitter
- p.Asn1193= Single submitter
- p.Asn1212= Single submitter
- p.Asn1236= Single submitter
- p.Asn1243= Single submitter
- p.Asn1247= Single submitter
- p.Asn1348Ser Single submitter
- p.Asn1362= Single submitter
- p.Asn1365= Single submitter
- p.Asn1426= Single submitter
- p.Asn1443= Single submitter
- p.Asn1537= Single submitter
- p.Asn1552Ser Single submitter
- p.Asn1572= Single submitter
- p.Asn1626= Single submitter
- p.Asn1655= Single submitter
- p.Asn1672= Single submitter
- p.Asn1684= Single submitter
- p.Asn1699Ser Single submitter
- p.Asn1711= Single submitter
- p.Asn1763= Single submitter
- p.Asn1764= Single submitter
- p.Asn1764Ser Single submitter
- p.Asn1782= Single submitter
- p.Asn1796= Single submitter
- p.Asn2035= Single submitter
- p.Asn2146= Single submitter
- p.Asn2167= Single submitter
- p.Asn2205= Single submitter
- p.Asn2248= Single submitter
- p.Asn2407= Single submitter
- p.Asn2457= Single submitter
- p.Asn2470= Single submitter
- p.Asn2487= Single submitter
- p.Asn257= Single submitter
- p.Asn451= Single submitter
- p.Asn592= Single submitter
- p.Asn73= Single submitter
- p.Asn738= Single submitter
- p.Asn773= Single submitter
- p.Asn825= Single submitter
- p.Asn858= Single submitter
- p.Asn938= Single submitter
- p.Asn954= Single submitter
- p.Asn970= Single submitter
- p.Asn975= Single submitter
- p.Asp1012= Single submitter
- p.Asp1059= Single submitter
- p.Asp1109Tyr Single submitter
- p.Asp1188= Single submitter
- p.Asp1403= Single submitter
- p.Asp1487= Single submitter
- p.Asp1497= Single submitter
- p.Asp1531= Single submitter
- p.Asp1531Gly Single submitter
- p.Asp1562= Single submitter
- p.Asp1595= Single submitter
- p.Asp1599= Single submitter
- p.Asp1605= Single submitter
- p.Asp1607= Single submitter
- p.Asp169= Single submitter
- p.Asp1715= Single submitter
- p.Asp1715Gly Single submitter
- p.Asp1784= Single submitter
- p.Asp1795= Single submitter
- p.Asp1801= Single submitter
- p.Asp1829= Single submitter
- p.Asp1833= Single submitter
- p.Asp1887= Single submitter
- p.Asp1911= Single submitter
- p.Asp1966= Single submitter
- p.Asp2182= Single submitter
- p.Asp223= Single submitter
- p.Asp2255= Single submitter
- p.Asp2305= Single submitter
- p.Asp2408= Single submitter
- p.Asp2414= Single submitter
- p.Asp2437= Single submitter
- p.Asp2455= Single submitter
- p.Asp250Ala Single submitter
- p.Asp2512= Single submitter
- p.Asp2550= Single submitter
- p.Asp2587= Single submitter
- p.Asp2589= Single submitter
- p.Asp286= Single submitter
- p.Asp304= Single submitter
- p.Asp324= Single submitter
- p.Asp487= Single submitter
- p.Asp602= Single submitter
- p.Asp630= Single submitter
- p.Asp634= Single submitter
- p.Asp665= Single submitter
- p.Asp820= Single submitter
- p.Asp995= Single submitter
- p.Cys1063= Single submitter
- p.Cys1237= Single submitter
- p.Cys1475= Single submitter
- p.Cys1951= Single submitter
- p.Cys1960Arg Single submitter
- p.Cys2219Arg Single submitter
- p.Cys2434= Single submitter
- p.Cys247Phe Single submitter
- p.Cys330= Single submitter
- p.Cys743= Single submitter
- p.Cys909= Single submitter
- p.Cys971= Single submitter
- p.Cys99= Single submitter
- p.Gln1021= Single submitter
- p.Gln1070= Single submitter
- p.Gln1117= Single submitter
- p.Gln1120= Single submitter
- p.Gln1174= Single submitter
- p.Gln1180= Single submitter
- p.Gln1199= Single submitter
- p.Gln1292= Single submitter
- p.Gln1355= Single submitter
- p.Gln1361= Single submitter
- p.Gln1368= Single submitter
- p.Gln1379= Single submitter
- p.Gln1441= Single submitter
- p.Gln1508= Single submitter
- p.Gln1529= Single submitter
- p.Gln1542= Single submitter
- p.Gln1546= Single submitter
- p.Gln1579= Single submitter
- p.Gln1603= Single submitter
- p.Gln1606= Single submitter
- p.Gln1689= Single submitter
- p.Gln1691= Single submitter
- p.Gln1767= Single submitter
- p.Gln1814= Single submitter
- p.Gln1834= Single submitter
- p.Gln1876= Single submitter
- p.Gln1921= Single submitter
- p.Gln1949= Single submitter
- p.Gln1984= Single submitter
- p.Gln2059= Single submitter
- p.Gln2065= Single submitter
- p.Gln2176= Single submitter
- p.Gln2298= Single submitter
- p.Gln2333= Single submitter
- p.Gln2380= Single submitter
- p.Gln2381= Single submitter
- p.Gln2425His Single submitter
- p.Gln2441= Single submitter
- p.Gln2467= Single submitter
- p.Gln2491= Single submitter
- p.Gln2510= Single submitter
- p.Gln2537= Single submitter
- p.Gln32= Single submitter
- p.Gln367= Single submitter
- p.Gln393= Single submitter
Uncertain significance 2371
Showing the top 300 by review status; the full set is in the sitemap.
- p.Arg2169Cys Multiple submitters POLQ-related disorder ⚠
- p.Arg2347Cys Multiple submitters POLQ-related disorder ⚠
- p.Cys2219Tyr Multiple submitters POLQ-related disorder ⚠
- p.Glu2246Lys Multiple submitters POLQ-related disorder ⚠
- p.Glu731Ala Multiple submitters POLQ-related disorder ⚠
- p.Lys68Glu Multiple submitters POLQ-related disorder ⚠
- p.Met1707Val Multiple submitters POLQ-related disorder ⚠
- p.Thr1010Ala Multiple submitters POLQ-related disorder ⚠
- p.Thr1544Ile Multiple submitters POLQ-related disorder ⚠
- p.Ala1003Gly Single submitter ⚠
- p.Ala1003Val Single submitter ⚠
- p.Ala1062Val Single submitter ⚠
- p.Ala1098Ser Single submitter ⚠
- p.Ala1150Pro Single submitter hereditary breast carcinoma ⚠
- p.Ala1150Thr Single submitter ⚠
- p.Ala1150Val Single submitter ⚠
- p.Ala115Val Single submitter ⚠
- p.Ala1162Pro Single submitter ⚠
- p.Ala1162Thr Single submitter ⚠
- p.Ala119Ser Single submitter ⚠
- p.Ala119Thr Single submitter ⚠
- p.Ala1222Val Single submitter ⚠
- p.Ala1254Glu Single submitter ⚠
- p.Ala1254Ser Single submitter ⚠
- p.Ala125Gly Single submitter
- p.Ala125Thr Single submitter ⚠
- p.Ala1340Ser Single submitter ⚠
- p.Ala1350Glu Single submitter ⚠
- p.Ala1350Val Single submitter ⚠
- p.Ala1351Ser Single submitter ⚠
- p.Ala1377Thr Single submitter ⚠
- p.Ala1384Thr Single submitter ⚠
- p.Ala1569Pro Single submitter ⚠
- p.Ala1569Thr Single submitter ⚠
- p.Ala1590Thr Single submitter ⚠
- p.Ala1615Thr Single submitter ⚠
- p.Ala1634Ser Single submitter ⚠
- p.Ala1634Thr Single submitter ⚠
- p.Ala1712Val Single submitter ⚠
- p.Ala1818Gly Single submitter ⚠
- p.Ala1818Val Single submitter ⚠
- p.Ala1855Thr Single submitter ⚠
- p.Ala1868Gly Single submitter ⚠
- p.Ala1868Thr Single submitter ⚠
- p.Ala187Ser Single submitter ⚠
- p.Ala1904Glu Single submitter ⚠
- p.Ala1912Val Single submitter ⚠
- p.Ala1928Val Single submitter ⚠
- p.Ala194Asp Single submitter ⚠
- p.Ala2046Thr Single submitter ⚠
- p.Ala2046Val Single submitter ⚠
- p.Ala2097Glu Single submitter ⚠
- p.Ala2097Thr Single submitter ⚠
- p.Ala2097Val Single submitter ⚠
- p.Ala2108Gly Single submitter ⚠
- p.Ala2108Thr Single submitter ⚠
- p.Ala2121Asp Single submitter ⚠
- p.Ala2121Ser Single submitter ⚠
- p.Ala2134Ser Single submitter ⚠
- p.Ala2206Thr Single submitter ⚠
- p.Ala2238Ser Single submitter ⚠
- p.Ala2317Val Single submitter ⚠
- p.Ala2328Gly Single submitter ⚠
- p.Ala2356Asp Single submitter ⚠
- p.Ala2356Thr Single submitter ⚠
- p.Ala2363Pro Single submitter ⚠
- p.Ala2363Val Single submitter ⚠
- p.Ala2364Thr Single submitter ⚠
- p.Ala2382Gly Single submitter ⚠
- p.Ala2382Pro Single submitter ⚠
- p.Ala2409Gly Single submitter ⚠
- p.Ala2409Ser Single submitter ⚠
- p.Ala2409Val Single submitter ⚠
- p.Ala2410Pro Single submitter ⚠
- p.Ala2410Ser Single submitter ⚠
- p.Ala2410Thr Single submitter ⚠
- p.Ala2410Val Single submitter ⚠
- p.Ala245Thr Single submitter ⚠
- p.Ala2468Gly Single submitter ⚠
- p.Ala2468Thr Single submitter ⚠
- p.Ala2477Glu Single submitter ⚠
- p.Ala249Ser Single submitter ⚠
- p.Ala249Thr Single submitter ⚠
- p.Ala252Asp Single submitter ⚠
- p.Ala2547Thr Single submitter ⚠
- p.Ala2565Ser Single submitter ⚠
- p.Ala2580Thr Single submitter ⚠
- p.Ala266Asp Single submitter ⚠
- p.Ala275Thr Single submitter
- p.Ala280Asp Single submitter ⚠
- p.Ala354Glu Single submitter ⚠
- p.Ala358Ser Single submitter ⚠
- p.Ala358Val Single submitter ⚠
- p.Ala414Pro Single submitter ⚠
- p.Ala414Thr Single submitter ⚠
- p.Ala414Val Single submitter ⚠
- p.Ala418Glu Single submitter ⚠
- p.Ala431Asp Single submitter ⚠
- p.Ala431Pro Single submitter ⚠
- p.Ala431Thr Single submitter ⚠
- p.Ala431Val Single submitter
- p.Ala441Glu Single submitter ⚠
- p.Ala441Ser Single submitter ⚠
- p.Ala441Thr Single submitter ⚠
- p.Ala441Val Single submitter ⚠
- p.Ala442Ser Single submitter
- p.Ala442Val Single submitter ⚠
- p.Ala506Gly Single submitter ⚠
- p.Ala51Ser Single submitter ⚠
- p.Ala544Ser Single submitter ⚠
- p.Ala555Gly Single submitter ⚠
- p.Ala555Val Single submitter ⚠
- p.Ala581Ser Single submitter ⚠
- p.Ala581Thr Single submitter ⚠
- p.Ala584Ser Single submitter ⚠
- p.Ala600Gly Single submitter ⚠
- p.Ala617Asp Single submitter ⚠
- p.Ala626Gly Single submitter ⚠
- p.Ala638Glu Single submitter ⚠
- p.Ala638Gly Single submitter
- p.Ala638Thr Single submitter ⚠
- p.Ala695Asp Single submitter ⚠
- p.Ala695Val Single submitter ⚠
- p.Ala755Pro Single submitter ⚠
- p.Ala759Glu Single submitter ⚠
- p.Ala759Pro Single submitter ⚠
- p.Ala759Ser Single submitter ⚠
- p.Ala804Pro Single submitter ⚠
- p.Ala804Ser Single submitter ⚠
- p.Ala807Thr Single submitter ⚠
- p.Ala819Gly Single submitter ⚠
- p.Ala819Val Single submitter ⚠
- p.Ala822Ser Single submitter ⚠
- p.Ala824Pro Single submitter ⚠
- p.Ala836Ser Single submitter ⚠
- p.Ala842Gly Single submitter ⚠
- p.Ala842Ser Single submitter ⚠
- p.Ala842Thr Single submitter ⚠
- p.Ala845Thr Single submitter ⚠
- p.Ala875Thr Single submitter ⚠
- p.Ala883Asp Single submitter ⚠
- p.Ala902Thr Single submitter ⚠
- p.Ala97Thr Single submitter ⚠
- p.Ala988Gly Single submitter ⚠
- p.Ala992Val Single submitter ⚠
- p.Arg1045Gly Single submitter ⚠
- p.Arg1045Ile Single submitter ⚠
- p.Arg1050Pro Single submitter ⚠
- p.Arg1052Ser Single submitter ⚠
- p.Arg1064Gly Single submitter ⚠
- p.Arg1064Ile Single submitter ⚠
- p.Arg1092Ile Single submitter ⚠
- p.Arg1092Ser Single submitter ⚠
- p.Arg1159Gly Single submitter ⚠
- p.Arg1159Ile Single submitter ⚠
- p.Arg1229Gly Single submitter ⚠
- p.Arg1261Gly Single submitter ⚠
- p.Arg1290Gly Single submitter ⚠
- p.Arg1290Ser Single submitter ⚠
- p.Arg132Gln Single submitter ⚠
- p.Arg132Pro Single submitter ⚠
- p.Arg132Trp Single submitter
- p.Arg137Gln Single submitter ⚠
- p.Arg137Gly Single submitter ⚠
- p.Arg137Trp Single submitter ⚠
- p.Arg1466Gly Single submitter ⚠
- p.Arg1466Thr Single submitter ⚠
- p.Arg1589Gly Single submitter ⚠
- p.Arg1589Lys Single submitter ⚠
- p.Arg1589Ser Single submitter ⚠
- p.Arg1614Gly Single submitter ⚠
- p.Arg1614Lys Single submitter ⚠
- p.Arg1614Ser Single submitter ⚠
- p.Arg1624Lys Single submitter ⚠
- p.Arg1644Lys Single submitter ⚠
- p.Arg1644Met Single submitter ⚠
- p.Arg1644Ser Single submitter ⚠
- p.Arg1723Gly Single submitter ⚠
- p.Arg1790Ser Single submitter ⚠
- p.Arg1790Thr Single submitter ⚠
- p.Arg179Lys Single submitter ⚠
- p.Arg179Ser Single submitter ⚠
- p.Arg1845Trp Single submitter ⚠
- p.Arg1849Pro Single submitter ⚠
- p.Arg1873Lys Single submitter ⚠
- p.Arg1886Lys Single submitter ⚠
- p.Arg193Gly Single submitter
- p.Arg193Lys Single submitter ⚠
- p.Arg1944Gly Single submitter ⚠
- p.Arg1944Lys Single submitter ⚠
- p.Arg1944Ser Single submitter ⚠
- p.Arg200Leu Single submitter ⚠
- p.Arg2043Pro Single submitter ⚠
- p.Arg2045Lys Single submitter ⚠
- p.Arg2074His Single submitter ⚠
- p.Arg2074Leu Single submitter ⚠
- p.Arg2162Lys Single submitter ⚠
- p.Arg2162Thr Single submitter ⚠
- p.Arg2169His Single submitter ⚠
- p.Arg2169Leu Single submitter ⚠
- p.Arg2175Gly Single submitter ⚠
- p.Arg2202Thr Single submitter ⚠
- p.Arg2216Gln Single submitter ⚠
- p.Arg2216Pro Single submitter ⚠
- p.Arg2216Trp Single submitter
- p.Arg2241Gln Single submitter ⚠
- p.Arg2302Lys Single submitter ⚠
- p.Arg2306Ile Single submitter ⚠
- p.Arg2346Cys Single submitter ⚠
- p.Arg2346Gly Single submitter ⚠
- p.Arg2346Pro Single submitter ⚠
- p.Arg2347Gly Single submitter ⚠
- p.Arg2347His Single submitter ⚠
- p.Arg2347Pro Single submitter ⚠
- p.Arg2347Ser Single submitter
- p.Arg2360Ser Single submitter
- p.Arg2360Thr Single submitter ⚠
- p.Arg2419Gly Single submitter ⚠
- p.Arg2436Gly Single submitter ⚠
- p.Arg2436Thr Single submitter ⚠
- p.Arg2447His Single submitter ⚠
- p.Arg2466Leu Single submitter ⚠
- p.Arg2466Ser Single submitter ⚠
- p.Arg2505Gln Single submitter ⚠
- p.Arg2505Gly Single submitter ⚠
- p.Arg2505Leu Single submitter ⚠
- p.Arg2518Gln Single submitter ⚠
- p.Arg2518Gly Single submitter ⚠
- p.Arg2520Lys Single submitter ⚠
- p.Arg2520Thr Single submitter ⚠
- p.Arg2530Gly Single submitter ⚠
- p.Arg288Cys Single submitter ⚠
- p.Arg359Gln Single submitter ⚠
- p.Arg396Cys Single submitter ⚠
- p.Arg396Gly Single submitter ⚠
- p.Arg396His Single submitter ⚠
- p.Arg425Lys Single submitter ⚠
- p.Arg425Thr Single submitter ⚠
- p.Arg433Cys Single submitter ⚠
- p.Arg433His Single submitter ⚠
- p.Arg433Leu Single submitter ⚠
- p.Arg455His Single submitter ⚠
- p.Arg455Leu Single submitter ⚠
- p.Arg456Cys Single submitter ⚠
- p.Arg456Gly Single submitter ⚠
- p.Arg456His Single submitter ⚠
- p.Arg467Leu Single submitter ⚠
- p.Arg480His Single submitter ⚠
- p.Arg480Leu Single submitter ⚠
- p.Arg480Pro Single submitter ⚠
- p.Arg516Gly Single submitter ⚠
- p.Arg516His Single submitter ⚠
- p.Arg521Gly Single submitter ⚠
- p.Arg533Leu Single submitter ⚠
- p.Arg533Pro Single submitter ⚠
- p.Arg572Ser Single submitter ⚠
- p.Arg637Lys Single submitter ⚠
- p.Arg637Ser Single submitter ⚠
- p.Arg668Gln Single submitter ⚠
- p.Arg66Thr Single submitter ⚠
- p.Arg682Met Single submitter
- p.Arg705Gly Single submitter ⚠
- p.Arg705Lys Single submitter ⚠
- p.Arg705Ser Single submitter ⚠
- p.Arg711Gln Single submitter ⚠
- p.Arg711Leu Single submitter
- p.Arg735Trp Single submitter ⚠
- p.Arg745Cys Single submitter
- p.Arg745His Single submitter ⚠
- p.Arg768His Single submitter ⚠
- p.Arg784Cys Single submitter ⚠
- p.Arg784His Single submitter ⚠
- p.Arg791Lys Single submitter ⚠
- p.Arg798Gln Single submitter ⚠
- p.Arg798Trp Single submitter
- p.Arg806Gly Single submitter ⚠
- p.Arg808Thr Single submitter ⚠
- p.Arg823Lys Single submitter ⚠
- p.Arg843Gln Single submitter ⚠
- p.Arg843Leu Single submitter ⚠
- p.Arg843Pro Single submitter ⚠
- p.Arg856Gly Single submitter ⚠
- p.Arg856Leu Single submitter ⚠
- p.Arg856Ser Single submitter ⚠
- p.Arg857His Single submitter ⚠
- p.Arg857Leu Single submitter ⚠
- p.Arg860Pro Single submitter ⚠
- p.Arg873Lys Single submitter ⚠
- p.Arg884Gly Single submitter ⚠
- p.Arg991Trp Single submitter POLQ-related disorder ⚠
- p.Asn1029Ser Single submitter ⚠
- p.Asn1031Tyr Single submitter ⚠
- p.Asn1074Thr Single submitter ⚠
- p.Asn1093Lys Single submitter ⚠
- p.Asn1100Ser Single submitter ⚠
- p.Asn1100Thr Single submitter ⚠
- p.Asn1110Lys Single submitter ⚠
- p.Asn1125Ser Single submitter ⚠
- p.Asn1130Lys Single submitter ⚠
- p.Asn1145Ile Single submitter ⚠