ClinVar Miner

Variants in gene ATP7B 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
800 119 2 108 90 0 36 213

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 2 84 13 0 0
likely pathogenic 84 0 28 2 1
uncertain significance 13 28 0 79 27
likely benign 0 2 79 0 24
benign 0 1 27 24 0

All variants with conflicting interpretations #

Total variants: 213
Download table as spreadsheet
HGVS dbSNP
NM_000053.3(ATP7B):c.-436_-422del15 rs1484840087
NM_000053.3(ATP7B):c.-676A>G rs1021025464
NM_000053.4(ATP7B):c.*16G>A rs193922100
NM_000053.4(ATP7B):c.1002T>C (p.Ser334=)
NM_000053.4(ATP7B):c.1063C>T (p.Gln355Ter) rs778490238
NM_000053.4(ATP7B):c.1122C>G (p.Val374=) rs201254466
NM_000053.4(ATP7B):c.1172C>T (p.Ser391Leu) rs750724856
NM_000053.4(ATP7B):c.1185C>T (p.Ala395=) rs764551529
NM_000053.4(ATP7B):c.1198A>G (p.Thr400Ala) rs199807461
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser) rs201738967
NM_000053.4(ATP7B):c.1230A>G (p.Pro410=) rs772843652
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244
NM_000053.4(ATP7B):c.1401T>G (p.Pro467=) rs529527733
NM_000053.4(ATP7B):c.1426G>A (p.Ala476Thr) rs139289704
NM_000053.4(ATP7B):c.1470C>A (p.Cys490Ter) rs778675259
NM_000053.4(ATP7B):c.1543+13C>T rs200171850
NM_000053.4(ATP7B):c.1554C>T (p.Ser518=)
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala) rs138427376
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966
NM_000053.4(ATP7B):c.1686C>T (p.Ser562=) rs138962570
NM_000053.4(ATP7B):c.1687G>A (p.Asp563Asn)
NM_000053.4(ATP7B):c.1707+2dup rs781531824
NM_000053.4(ATP7B):c.1708-1G>C rs137853280
NM_000053.4(ATP7B):c.1708-5T>G rs770829226
NM_000053.4(ATP7B):c.1716del (p.Gly572_Met573insTer) rs1057516893
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544
NM_000053.4(ATP7B):c.1739del (p.His580fs) rs1555293357
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs) rs753962912
NM_000053.4(ATP7B):c.1772G>A (p.Gly591Asp) rs797045402
NM_000053.4(ATP7B):c.1782del (p.Thr593_Tyr594insTer) rs780327716
NM_000053.4(ATP7B):c.1830G>A (p.Pro610=) rs375689672
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1878C>T (p.Gly626=) rs587783300
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.4(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.1946+6T>C rs751287778
NM_000053.4(ATP7B):c.1947-4C>T rs74904335
NM_000053.4(ATP7B):c.1965G>A (p.Leu655=) rs574041847
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg) rs372436901
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2002A>G (p.Met668Val) rs587783301
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)
NM_000053.4(ATP7B):c.2071G>A (p.Gly691Arg) rs121908001
NM_000053.4(ATP7B):c.2072G>T (p.Gly691Val) rs1555291801
NM_000053.4(ATP7B):c.2078C>G (p.Ser693Cys) rs1212479289
NM_000053.4(ATP7B):c.2121+3A>G rs1248002612
NM_000053.4(ATP7B):c.2122-8T>G rs193922102
NM_000053.4(ATP7B):c.2124C>A (p.Leu708=) rs779988850
NM_000053.4(ATP7B):c.2129G>C (p.Gly710Ala) rs1555291285
NM_000053.4(ATP7B):c.2131G>A (p.Gly711Arg) rs1394999756
NM_000053.4(ATP7B):c.2131G>T (p.Gly711Trp) rs1394999756
NM_000053.4(ATP7B):c.2145C>T (p.Tyr715=) rs751202110
NM_000053.4(ATP7B):c.2157C>A (p.Tyr719Ter) rs1057516380
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=) rs61733684
NM_000053.4(ATP7B):c.2190C>T (p.Asp730=) rs550565277
NM_000053.4(ATP7B):c.2227del (p.Tyr743fs)
NM_000053.4(ATP7B):c.2233_2234del (p.Leu745fs) rs1555291195
NM_000053.4(ATP7B):c.2241C>A (p.Ile747=)
NM_000053.4(ATP7B):c.2286A>T (p.Thr762=) rs750477816
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339
NM_000053.4(ATP7B):c.2294A>G (p.Asp765Gly) rs1555291147
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met) rs121907997
NM_000053.4(ATP7B):c.2300C>T (p.Pro767Leu) rs776668666
NM_000053.4(ATP7B):c.2301C>T (p.Pro767=) rs770787421
NM_000053.4(ATP7B):c.2303C>T (p.Pro768Leu) rs1057516844
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2310C>G (p.Leu770=) rs398123136
NM_000053.4(ATP7B):c.2332C>G (p.Arg778Gly) rs137853284
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.2355+13T>G rs139211339
NM_000053.4(ATP7B):c.2355+4A>G rs776572343
NM_000053.4(ATP7B):c.2383C>T (p.Leu795Phe) rs751710854
NM_000053.4(ATP7B):c.2436T>C (p.Asn812=) rs533967323
NM_000053.4(ATP7B):c.2447+8A>G rs747586752
NM_000053.4(ATP7B):c.2447+8_2447+9insAA rs746283578
NM_000053.4(ATP7B):c.2448-11G>A rs200450017
NM_000053.4(ATP7B):c.2475G>A (p.Val825=) rs373528664
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.2549C>T (p.Thr850Ile) rs777629392
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.2604C>T (p.Pro868=) rs368902724
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.2621C>T (p.Ala874Val) rs121907994
NM_000053.4(ATP7B):c.2662A>C (p.Thr888Pro) rs1455758826
NM_000053.4(ATP7B):c.2668G>A (p.Val890Met) rs786204718
NM_000053.4(ATP7B):c.2681C>T (p.Thr894Ile) rs1340729837
NM_000053.4(ATP7B):c.2712A>G (p.Glu904=)
NM_000053.4(ATP7B):c.2731-2A>G rs367956522
NM_000053.4(ATP7B):c.2752G>A (p.Asp918Asn) rs540935874
NM_000053.4(ATP7B):c.2755C>T (p.Arg919Trp) rs121907993
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245
NM_000053.4(ATP7B):c.2804C>T (p.Thr935Met) rs750019452
NM_000053.4(ATP7B):c.2810del (p.Val937fs) rs1057516643
NM_000053.4(ATP7B):c.2826_2832del (p.Gly943fs) rs1555288385
NM_000053.4(ATP7B):c.2827G>A (p.Gly943Ser) rs28942076
NM_000053.4(ATP7B):c.2828G>A (p.Gly943Asp) rs779323689
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774
NM_000053.4(ATP7B):c.2865+1G>A rs587783306
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp) rs774028495
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg) rs193922104
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608
NM_000053.4(ATP7B):c.2972C>T (p.Thr991Met) rs41292782
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000053.4(ATP7B):c.2998G>A (p.Gly1000Arg) rs751078884
NM_000053.4(ATP7B):c.3006C>T (p.Ala1002=) rs369620062
NM_000053.4(ATP7B):c.3007G>A (p.Ala1003Thr) rs201497300
NM_000053.4(ATP7B):c.3008C>T (p.Ala1003Val) rs775055397
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs) rs1555287300
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248
NM_000053.4(ATP7B):c.3053C>T (p.Ala1018Val) rs371840514
NM_000053.4(ATP7B):c.3060+16G>T rs76163470
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3069T>C (p.Thr1023=) rs187343742
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val) rs753594031
NM_000053.4(ATP7B):c.3105C>T (p.Gly1035=) rs200324179
NM_000053.4(ATP7B):c.3114G>A (p.Arg1038=)
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916
NM_000053.4(ATP7B):c.3123G>C (p.Arg1041=) rs1192564410
NM_000053.4(ATP7B):c.314C>A (p.Ser105Ter) rs753236073
NM_000053.4(ATP7B):c.3155C>T (p.Pro1052Leu) rs778543794
NM_000053.4(ATP7B):c.3160A>C (p.Arg1054=) rs377586515
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala) rs374094065
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3237T>A (p.Cys1079Ter)
NM_000053.4(ATP7B):c.3244-2A>G rs786204584
NM_000053.4(ATP7B):c.3247C>T (p.Leu1083Phe) rs1286080173
NM_000053.4(ATP7B):c.325C>T (p.Leu109=) rs751920801
NM_000053.4(ATP7B):c.3263T>A (p.Leu1088Ter) rs753250853
NM_000053.4(ATP7B):c.3272G>A (p.Cys1091Tyr) rs778825095
NM_000053.4(ATP7B):c.3301G>A (p.Gly1101Arg) rs786204483
NM_000053.4(ATP7B):c.3305T>C (p.Ile1102Thr) rs560952220
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile) rs541208827
NM_000053.4(ATP7B):c.3324C>T (p.Asn1108=) rs372456815
NM_000053.4(ATP7B):c.3350_3353del (p.Glu1117fs) rs1555285830
NM_000053.4(ATP7B):c.3369G>A (p.Pro1123=) rs61733679
NM_000053.4(ATP7B):c.3396C>T (p.Ser1132=) rs370947152
NM_000053.4(ATP7B):c.3402C>T (p.Pro1134=) rs145887771
NM_000053.4(ATP7B):c.3403G>A (p.Ala1135Thr) rs187200982
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.4(ATP7B):c.3426G>C (p.Gln1142His) rs778749563
NM_000053.4(ATP7B):c.3449del (p.Asn1150fs) rs1555285380
NM_000053.4(ATP7B):c.3452G>A (p.Arg1151His) rs377297166
NM_000053.4(ATP7B):c.3498T>C (p.Ser1166=) rs587783314
NM_000053.4(ATP7B):c.3517G>A (p.Glu1173Lys) rs756029120
NM_000053.4(ATP7B):c.3529C>T (p.Gln1177Ter) rs1057516479
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3551T>C (p.Ile1184Thr)
NM_000053.4(ATP7B):c.3556+1G>A rs184388696
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser) rs786204547
NM_000053.4(ATP7B):c.3557-6C>T rs140708492
NM_000053.4(ATP7B):c.3557-8C>T rs765668065
NM_000053.4(ATP7B):c.3582C>T (p.Ile1194=) rs761183334
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224
NM_000053.4(ATP7B):c.360C>T (p.Gly120=)
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3624G>T (p.Thr1208=) rs377267217
NM_000053.4(ATP7B):c.3625C>T (p.Leu1209=)
NM_000053.4(ATP7B):c.363C>T (p.Phe121=)
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.3649_3654del (p.Val1217_Leu1218del) rs781266802
NM_000053.4(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val) rs200911496
NM_000053.4(ATP7B):c.3694A>C (p.Thr1232Pro) rs568009639
NM_000053.4(ATP7B):c.3741C>G (p.His1247Gln) rs767464491
NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe) rs769484789
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992
NM_000053.4(ATP7B):c.3818C>A (p.Pro1273Gln) rs758355520
NM_000053.4(ATP7B):c.3863C>G (p.Thr1288Arg) rs373748155
NM_000053.4(ATP7B):c.3885C>T (p.Ala1295=) rs200597654
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537
NM_000053.4(ATP7B):c.3895C>T (p.Leu1299Phe) rs749472361
NM_000053.4(ATP7B):c.3903+6C>T rs2282057
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) rs587783317
NM_000053.4(ATP7B):c.4022-19C>T rs369736734
NM_000053.4(ATP7B):c.4035C>T (p.Pro1345=) rs564541246
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser) rs587783318
NM_000053.4(ATP7B):c.4058G>A (p.Trp1353Ter) rs193922110
NM_000053.4(ATP7B):c.406A>G (p.Arg136Gly) rs557577836
NM_000053.4(ATP7B):c.4088C>T (p.Ser1363Phe) rs776848753
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4213G>A (p.Gly1405Ser) rs189601972
NM_000053.4(ATP7B):c.4251A>G (p.Thr1417=) rs546721020
NM_000053.4(ATP7B):c.4283dup (p.Ser1429fs) rs1555282191
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048
NM_000053.4(ATP7B):c.445G>A (p.Val149Met) rs200606656
NM_000053.4(ATP7B):c.51+4A>T rs369488210
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.562C>T (p.Gln188Ter) rs1412593296
NM_000053.4(ATP7B):c.588C>A (p.Asp196Glu) rs756718353
NM_000053.4(ATP7B):c.610A>G (p.Met204Val)
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000053.4(ATP7B):c.740A>G (p.Glu247Gly) rs376398239
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000053.4(ATP7B):c.813C>T (p.Cys271=) rs572147914
NM_000053.4(ATP7B):c.865C>T (p.Gln289Ter) rs121907999
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter) rs911589273

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