ClinVar Miner

Variants in gene POLG with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
822 105 8 73 87 0 34 165

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 7 21 18 0 1
likely pathogenic 21 0 27 0 0
uncertain significance 18 27 0 71 42
likely benign 0 0 71 0 52
benign 1 0 42 52 1

All variants with conflicting interpretations #

Total variants: 165
Download table as spreadsheet
HGVS dbSNP
NM_001126131.2(POLG):c.126_128GCA[12] (p.Gln55dup) rs41550117
NM_001126131.2(POLG):c.126_128GCA[15] (p.Gln52_Gln55dup) rs41550117
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.158_159delinsCT (p.Gln53Pro) rs1064795981
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2243G>C (p.Trp748Ser) rs113994097
NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_002693.2(POLG):c.1066C>T (p.Leu356=) rs371431444
NM_002693.2(POLG):c.1126C>T (p.Leu376=) rs116165908
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.116A>G (p.Gln39Arg) rs749750052
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.1198G>A (p.Val400Met) rs529639381
NM_002693.2(POLG):c.125_127dup rs761080016
NM_002693.2(POLG):c.126_128GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.2(POLG):c.126_128GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.2(POLG):c.1275C>T (p.Ala425=) rs147404477
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.2(POLG):c.128A>G (p.Gln43Arg) rs28567406
NM_002693.2(POLG):c.1311C>T (p.Val437=) rs62640035
NM_002693.2(POLG):c.131A>G (p.Gln44Arg) rs757120802
NM_002693.2(POLG):c.1356T>C (p.Tyr452=) rs3176179
NM_002693.2(POLG):c.1386G>A (p.Ser462=) rs62640034
NM_002693.2(POLG):c.1389G>A (p.Leu463=) rs150828914
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.144_158del rs41550117
NM_002693.2(POLG):c.150_158del rs41550117
NM_002693.2(POLG):c.153_158del rs41550117
NM_002693.2(POLG):c.1545C>T (p.Ile515=) rs537156830
NM_002693.2(POLG):c.154C>A (p.Gln52Lys) rs376683989
NM_002693.2(POLG):c.155_166del (p.Gln52_Gln55del) rs761909257
NM_002693.2(POLG):c.1585+11T>C rs201566815
NM_002693.2(POLG):c.158_166del (p.Gln53_Gln55del) rs769735492
NM_002693.2(POLG):c.1599C>G (p.Cys533Trp) rs754246294
NM_002693.2(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.2(POLG):c.1629C>T (p.Val543=) rs56349446
NM_002693.2(POLG):c.1636C>T (p.Arg546Cys) rs2307447
NM_002693.2(POLG):c.1674C>G (p.Leu558=) rs552085869
NM_002693.2(POLG):c.1712+10G>A rs55962804
NM_002693.2(POLG):c.1743C>T (p.Asp581=) rs140743000
NM_002693.2(POLG):c.1763G>A (p.Gly588Asp) rs371334941
NM_002693.2(POLG):c.1789C>T (p.Arg597Trp) rs139717885
NM_002693.2(POLG):c.1790G>A (p.Arg597Gln) rs1001570418
NM_002693.2(POLG):c.1837C>T (p.His613Tyr) rs147407423
NM_002693.2(POLG):c.186A>G (p.Leu62=) rs745310138
NM_002693.2(POLG):c.1880G>A (p.Arg627Gln) rs375305567
NM_002693.2(POLG):c.1883G>A (p.Arg628Gln) rs201871736
NM_002693.2(POLG):c.1887C>T (p.Asp629=) rs886051524
NM_002693.2(POLG):c.1890C>T (p.Asn630=) rs148658588
NM_002693.2(POLG):c.1898A>C (p.Lys633Thr) rs568913937
NM_002693.2(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.2(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.2(POLG):c.1943C>G (p.Pro648Arg) rs796052906
NM_002693.2(POLG):c.1950-10C>T rs749522324
NM_002693.2(POLG):c.1956C>T (p.Ile652=) rs757860628
NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) rs200257554
NM_002693.2(POLG):c.2027C>T (p.Ala676Val) rs376306906
NM_002693.2(POLG):c.2028G>A (p.Ala676=) rs373550219
NM_002693.2(POLG):c.2071-14T>G rs150088708
NM_002693.2(POLG):c.2109C>A (p.Ala703=) rs2307429
NM_002693.2(POLG):c.2109C>T (p.Ala703=) rs2307429
NM_002693.2(POLG):c.2121C>A (p.Asn707Lys) rs755502359
NM_002693.2(POLG):c.2149C>T (p.Leu717=) rs779515404
NM_002693.2(POLG):c.2157+11C>T rs56411159
NM_002693.2(POLG):c.2157+15G>A rs766521182
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.2220C>T (p.Asn740=) rs141538857
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.2254C>T (p.Leu752=) rs41564016
NM_002693.2(POLG):c.2262C>G (p.His754Gln) rs1567188178
NM_002693.2(POLG):c.2293C>A (p.Pro765Thr) rs1003442806
NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) rs769827124
NM_002693.2(POLG):c.2481-10A>C rs555280530
NM_002693.2(POLG):c.2481-6C>T rs752226219
NM_002693.2(POLG):c.2481-7C>T rs2307448
NM_002693.2(POLG):c.2487C>T (p.Pro829=) rs147563527
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) rs41549716
NM_002693.2(POLG):c.2541C>T (p.Ala847=) rs143810171
NM_002693.2(POLG):c.2554C>T rs144500145
NM_002693.2(POLG):c.2558G>A (p.Arg853Gln) rs796052888
NM_002693.2(POLG):c.2573C>T (p.Thr858Ile) rs759128787
NM_002693.2(POLG):c.2591A>T (p.Asn864Ile) rs121918050
NM_002693.2(POLG):c.2599-10C>T rs769346219
NM_002693.2(POLG):c.2601T>C (p.Pro867=) rs201749977
NM_002693.2(POLG):c.2636A>G (p.Gln879Arg) rs368587966
NM_002693.2(POLG):c.2642C>T (p.Pro881Leu) rs375935084
NM_002693.2(POLG):c.264C>G (p.Phe88Leu) rs144439703
NM_002693.2(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.2(POLG):c.2663G>A (p.Gly888Asp) rs878854560
NM_002693.2(POLG):c.2724C>T (p.Ala908=) rs377390914
NM_002693.2(POLG):c.2735-7C>G rs200372494
NM_002693.2(POLG):c.2853C>T (p.Tyr951=) rs41546712
NM_002693.2(POLG):c.2857C>T (p.Arg953Cys) rs11546842
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) rs113994099
NM_002693.2(POLG):c.2870C>T (p.Ala957Val) rs753160398
NM_002693.2(POLG):c.2880C>T (p.Pro960=) rs752500492
NM_002693.2(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.2(POLG):c.3024G>A (p.Leu1008=) rs139488968
NM_002693.2(POLG):c.3104+8C>A rs754615624
NM_002693.2(POLG):c.3105-16_3105-15delGT rs146915033
NM_002693.2(POLG):c.3139C>T (p.Arg1047Trp) rs181860632
NM_002693.2(POLG):c.3151G>A (p.Gly1051Arg) rs121918049
NM_002693.2(POLG):c.3198G>A (p.Thr1066=) rs61752780
NM_002693.2(POLG):c.3216C>G (p.Thr1072=) rs146936870
NM_002693.2(POLG):c.3222G>T (p.Val1074=) rs746773616
NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) rs140079523
NM_002693.2(POLG):c.3273+6T>A rs886051522
NM_002693.2(POLG):c.3273+8G>A rs776468044
NM_002693.2(POLG):c.3274-19G>A rs116925016
NM_002693.2(POLG):c.3274-4C>T rs760343963
NM_002693.2(POLG):c.3286C>G (p.Arg1096Gly) rs201732356
NM_002693.2(POLG):c.3287G>A (p.Arg1096His) rs368435864
NM_002693.2(POLG):c.328C>T (p.His110Tyr) rs139599587
NM_002693.2(POLG):c.3294T>C (p.Asn1098=) rs374224714
NM_002693.2(POLG):c.32G>A rs765472726
NM_002693.2(POLG):c.3405C>T (p.Asp1135=) rs2307445
NM_002693.2(POLG):c.3424C>T (p.Arg1142Trp) rs2307442
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.3444C>T (p.Arg1148=) rs374937961
NM_002693.2(POLG):c.3450C>T (p.Ala1150=) rs774880085
NM_002693.2(POLG):c.3468C>T (p.Thr1156=) rs566373471
NM_002693.2(POLG):c.3480C>T (p.Thr1160=) rs1057521589
NM_002693.2(POLG):c.3482+6C>T rs55779802
NM_002693.2(POLG):c.3482+7G>A rs200309191
NM_002693.2(POLG):c.3483-4_3497del rs756325504
NM_002693.2(POLG):c.3509T>G (p.Leu1170Arg) rs796052913
NM_002693.2(POLG):c.3519G>A (p.Leu1173=) rs953889846
NM_002693.2(POLG):c.3527C>T (p.Ser1176Leu) rs776031396
NM_002693.2(POLG):c.3549C>T (p.Val1183=) rs777231247
NM_002693.2(POLG):c.3559C>T (p.Arg1187Trp) rs369544574
NM_002693.2(POLG):c.3561G>C (p.Arg1187=) rs62640037
NM_002693.2(POLG):c.3564C>T (p.Cys1188=) rs146584956
NM_002693.2(POLG):c.3573G>T (p.Lys1191Asn) rs1085307741
NM_002693.2(POLG):c.3597C>A (p.Thr1199=) rs2307443
NM_002693.2(POLG):c.3614G>C (p.Gly1205Ala) rs772737979
NM_002693.2(POLG):c.3630C>T (p.Tyr1210=) rs139562274
NM_002693.2(POLG):c.391T>C (p.Tyr131His) rs562847013
NM_002693.2(POLG):c.409C>T (p.Gln137Ter) rs1057517891
NM_002693.2(POLG):c.428C>T (p.Ala143Val) rs796052899
NM_002693.2(POLG):c.578G>A (p.Arg193Gln) rs3176162
NM_002693.2(POLG):c.581C>T (p.Ala194Val) rs779122022
NM_002693.2(POLG):c.603C>T (p.Val201=) rs768005050
NM_002693.2(POLG):c.678G>C (p.Gln226His) rs147282197
NM_002693.2(POLG):c.679C>T (p.Arg227Trp) rs121918056
NM_002693.2(POLG):c.695G>A (p.Arg232His) rs113994093
NM_002693.2(POLG):c.798G>T (p.Val266=) rs143631183
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002693.2(POLG):c.852C>T (p.Ile284=) rs41540414
NM_002693.2(POLG):c.855G>C (p.Gln285His) rs141367015
NM_002693.2(POLG):c.856-17CTC[4] rs200056162
NM_002693.2(POLG):c.87C>T (p.Ser29=) rs587781116
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002693.2(POLG):c.915C>G (p.Ser305Arg) rs769410130
NM_002693.2(POLG):c.926G>A (p.Arg309His) rs780953863
NM_002693.2(POLG):c.970C>A (p.Pro324Thr) rs2307437
NM_002693.2(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.2(POLG):c.975C>A (p.Pro325=) rs551973680
NM_002693.3(POLG):c.126_128GCA[7] (p.Gln52_Gln55del) rs41550117
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.3286C>T rs201732356
NM_002693.3(POLG):c.830A>T (p.His277Leu) rs138929605
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401

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