ClinVar Miner

Variants with conflicting interpretations studied for Spinocerebellar Ataxia, Dominant

Coded as:
Minimum review status of the submission for Spinocerebellar Ataxia, Dominant: Y axis collection method of the submission for Spinocerebellar Ataxia, Dominant:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
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 Variants with at least 2 submissions 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 kind of conflict
312 52 0 152 78 0 2 224

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.

All conditions
Spinocerebellar Ataxia, Dominant pathogenic likely pathogenic uncertain significance likely benign benign
uncertain significance 1 0 0 55 35
likely benign 0 1 8 0 138
benign 0 0 0 14 0

Condition to condition summary #

Total conditions: 9
Download table as spreadsheet
Condition Variants with only 1 submission Variants with at least 2 submissions 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 kind of conflict
not provided 0 30 0 112 64 0 1 171
not specified 0 16 0 58 38 0 0 96
History of neurodevelopmental disorder 0 1 0 20 15 0 0 35
Charcot-Marie-Tooth disease, axonal, type 2O 0 6 0 5 1 0 0 6
Spinocerebellar ataxia 5 0 2 0 5 0 0 0 5
Spinocerebellar ataxia 14 0 3 0 3 0 0 0 3
Spinocerebellar ataxia 27 0 0 0 1 1 0 0 2
Spinocerebellar ataxia 29 0 2 0 0 2 0 0 2
Spinocerebellar ataxia type 15/16 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 224
Download table as spreadsheet
HGVS dbSNP
NM_001168272.1(ITPR1):c.1206+10G>A rs75936691
NM_001168272.1(ITPR1):c.1257G>A (p.Pro419=) rs34252981
NM_001168272.1(ITPR1):c.1435G>A (p.Val479Ile) rs41289628
NM_001168272.1(ITPR1):c.1452C>T (p.Phe484=) rs778521012
NM_001168272.1(ITPR1):c.1491A>G (p.Glu497=) rs35047189
NM_001168272.1(ITPR1):c.1881C>T (p.Asn627=) rs61757106
NM_001168272.1(ITPR1):c.195C>G (p.Arg65=) rs563347395
NM_001168272.1(ITPR1):c.1962-3T>C rs200335594
NM_001168272.1(ITPR1):c.1962-7T>G rs764512335
NM_001168272.1(ITPR1):c.1962G>A (p.Lys654=) rs2306875
NM_001168272.1(ITPR1):c.2181G>A (p.Ala727=) rs41289636
NM_001168272.1(ITPR1):c.2235G>T (p.Leu745=) rs375801584
NM_001168272.1(ITPR1):c.2388T>A (p.Ile796=) rs145220403
NM_001168272.1(ITPR1):c.2394G>A (p.Ser798=) rs35946460
NM_001168272.1(ITPR1):c.255C>T (p.Asp85=) rs367814655
NM_001168272.1(ITPR1):c.2613A>C (p.Leu871=) rs2306877
NM_001168272.1(ITPR1):c.2687C>T (p.Ala896Val) rs201519806
NM_001168272.1(ITPR1):c.3012A>G (p.Ser1004=) rs200705345
NM_001168272.1(ITPR1):c.3150C>T (p.His1050=) rs745351516
NM_001168272.1(ITPR1):c.3162C>T (p.Thr1054=) rs186541002
NM_001168272.1(ITPR1):c.3282+4G>A rs2306878
NM_001168272.1(ITPR1):c.3412A>G (p.Met1138Val) rs199698357
NM_001168272.1(ITPR1):c.3510G>A (p.Val1170=) rs764767201
NM_001168272.1(ITPR1):c.3660C>T (p.Ala1220=) rs34635052
NM_001168272.1(ITPR1):c.3849C>T (p.Asn1283=) rs182840163
NM_001168272.1(ITPR1):c.3900T>C (p.Asn1300=) rs193212750
NM_001168272.1(ITPR1):c.4209G>T (p.Val1403=) rs142527379
NM_001168272.1(ITPR1):c.4218C>G (p.His1406Gln) rs61757110
NM_001168272.1(ITPR1):c.4243A>G (p.Ile1415Val) rs3749383
NM_001168272.1(ITPR1):c.438C>T (p.Ala146=) rs61741506
NM_001168272.1(ITPR1):c.4578C>T (p.Ser1526=) rs34748547
NM_001168272.1(ITPR1):c.4792T>C (p.Leu1598=) rs367643585
NM_001168272.1(ITPR1):c.4809C>T (p.Ser1603=) rs373127487
NM_001168272.1(ITPR1):c.508C>T (p.Arg170Ter) rs886058579
NM_001168272.1(ITPR1):c.5220C>T (p.Asn1740=) rs61757111
NM_001168272.1(ITPR1):c.5308+4C>T rs60849754
NM_001168272.1(ITPR1):c.5576T>G (p.Val1859Gly) rs143093165
NM_001168272.1(ITPR1):c.5721T>C (p.Asp1907=) rs201311531
NM_001168272.1(ITPR1):c.57G>A (p.Ala19=) rs200534989
NM_001168272.1(ITPR1):c.6465+7T>C rs115430385
NM_001168272.1(ITPR1):c.6672A>G (p.Thr2224=) rs13079522
NM_001168272.1(ITPR1):c.66G>A (p.Ser22=) rs112944532
NM_001168272.1(ITPR1):c.6763+8C>G rs2270749
NM_001168272.1(ITPR1):c.6867G>A (p.Pro2289=) rs200426774
NM_001168272.1(ITPR1):c.7009C>T (p.Leu2337=) rs2291862
NM_001168272.1(ITPR1):c.7053C>T (p.Gly2351=) rs41290672
NM_001168272.1(ITPR1):c.7054G>A (p.Ala2352Thr) rs201144431
NM_001168272.1(ITPR1):c.7344C>T (p.Phe2448=) rs200487406
NM_001168272.1(ITPR1):c.7464T>C (p.Asp2488=) rs79720149
NM_001168272.1(ITPR1):c.7590T>C (p.Thr2530=) rs711631
NM_001168272.1(ITPR1):c.7644G>A (p.Lys2548=) rs901854
NM_001168272.1(ITPR1):c.7692C>T (p.Leu2564=) rs148734757
NM_001168272.1(ITPR1):c.8121C>A (p.Gly2707=) rs73098087
NM_001168272.1(ITPR1):c.882C>T (p.Gly294=) rs370157764
NM_001168272.1(ITPR1):c.930G>A (p.Thr310=) rs28565126
NM_001168272.1(ITPR1):c.952-6C>T rs139421901
NM_001376.5(DYNC1H1):c.-13C>G rs537857759
NM_001376.5(DYNC1H1):c.-5A>G rs17511858
NM_001376.5(DYNC1H1):c.10575T>C (p.Arg3525=) rs763119040
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505
NM_001376.5(DYNC1H1):c.11460+4G>A rs201518717
NM_001376.5(DYNC1H1):c.11596-7G>A rs375593873
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238
NM_001376.5(DYNC1H1):c.11913C>G (p.Pro3971=) rs201174299
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889
NM_001376.5(DYNC1H1):c.12102+6G>A rs377669980
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196
NM_001376.5(DYNC1H1):c.12258C>T (p.Thr4086=) rs141242095
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468
NM_001376.5(DYNC1H1):c.12705G>A (p.Pro4235=) rs199792795
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749
NM_001376.5(DYNC1H1):c.13149C>T (p.Thr4383=) rs375767483
NM_001376.5(DYNC1H1):c.13152G>A (p.Ala4384=) rs536121075
NM_001376.5(DYNC1H1):c.13203C>T (p.Thr4401=) rs138022242
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650
NM_001376.5(DYNC1H1):c.13359C>T (p.Asn4453=) rs140033479
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903
NM_001376.5(DYNC1H1):c.13515+8C>T rs200901713
NM_001376.5(DYNC1H1):c.13707G>A (p.Thr4569=) rs138571942
NM_001376.5(DYNC1H1):c.13719C>T (p.Asn4573=) rs886050377
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638
NM_001376.5(DYNC1H1):c.1704T>C (p.Leu568=) rs192959810
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957
NM_001376.5(DYNC1H1):c.432G>A (p.Ser144=) rs533327200
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439
NM_001376.5(DYNC1H1):c.5424A>G (p.Leu1808=) rs770425304
NM_001376.5(DYNC1H1):c.5472C>T (p.Ser1824=) rs769577090
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188
NM_001376.5(DYNC1H1):c.6339G>A (p.Arg2113=) rs776544497
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439
NM_001376.5(DYNC1H1):c.7203A>C (p.Lys2401Asn) rs150888094
NM_001376.5(DYNC1H1):c.7308G>A (p.Ala2436=) rs754446530
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737
NM_001376.5(DYNC1H1):c.8784A>G (p.Gln2928=) rs149753029
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870
NM_001376.5(DYNC1H1):c.9210G>A (p.Pro3070=) rs201817995
NM_002739.5(PRKCG):c.1404C>G (p.Leu468=) rs35079513
NM_002739.5(PRKCG):c.1497T>C (p.Phe499=) rs2242244
NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=) rs34616316
NM_002739.5(PRKCG):c.1836C>T (p.Gly612=) rs56211557
NM_002739.5(PRKCG):c.1941C>T (p.Phe647=) rs2242243
NM_002739.5(PRKCG):c.2059A>G (p.Ser687Gly) rs73937614
NM_002739.5(PRKCG):c.207C>T (p.Cys69=) rs307955
NM_002739.5(PRKCG):c.285C>T (p.Asp95=) rs17854523
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406
NM_002739.5(PRKCG):c.642G>A (p.Thr214=) rs77550964
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362
NM_006796.2(AFG3L2):c.*2G>A rs113981080
NM_006796.2(AFG3L2):c.-32C>T rs556432963
NM_006796.2(AFG3L2):c.1026+8G>A rs8091858
NM_006796.2(AFG3L2):c.114+12C>T rs758470020
NM_006796.2(AFG3L2):c.1389G>A (p.Leu463=) rs11080572
NM_006796.2(AFG3L2):c.1426+9A>T rs377339236
NM_006796.2(AFG3L2):c.1650A>G (p.Glu550=) rs11553521
NM_006796.2(AFG3L2):c.1664-9T>C rs200476229
NM_006796.2(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006796.2(AFG3L2):c.293-14_293-13delTT rs556473698
NM_006796.2(AFG3L2):c.498C>T (p.Ser166=) rs141538541
NM_006796.2(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021
NM_006796.2(AFG3L2):c.98A>C (p.Gln33Pro) rs777868371
NM_006946.3(SPTBN2):c.1011T>G (p.Leu337=) rs34275473
NM_006946.3(SPTBN2):c.1161C>T (p.Arg387=) rs74909073
NM_006946.3(SPTBN2):c.1221C>T (p.His407=) rs143596433
NM_006946.3(SPTBN2):c.1351-7G>A rs116078747
NM_006946.3(SPTBN2):c.1351-7G>T rs116078747
NM_006946.3(SPTBN2):c.1434C>T (p.Ser478=) rs35463342
NM_006946.3(SPTBN2):c.1479C>T (p.Ala493=) rs150837212
NM_006946.3(SPTBN2):c.157+5G>A rs150159444
NM_006946.3(SPTBN2):c.1719C>T (p.His573=) rs148207416
NM_006946.3(SPTBN2):c.1722G>A (p.Glu574=) rs143083152
NM_006946.3(SPTBN2):c.1972C>T (p.Arg658Trp) rs199968321
NM_006946.3(SPTBN2):c.2064C>T (p.Gly688=) rs376219874
NM_006946.3(SPTBN2):c.234G>A (p.Val78=) rs78309877
NM_006946.3(SPTBN2):c.2412C>T (p.Asp804=) rs770555771
NM_006946.3(SPTBN2):c.249C>T (p.Ser83=) rs141552965
NM_006946.3(SPTBN2):c.2526C>T (p.Gly842=) rs144939155
NM_006946.3(SPTBN2):c.2685G>A (p.Glu895=) rs758091474
NM_006946.3(SPTBN2):c.2834G>A (p.Arg945His) rs377663856
NM_006946.3(SPTBN2):c.285C>T (p.Leu95=) rs34117933
NM_006946.3(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028
NM_006946.3(SPTBN2):c.3194G>A (p.Arg1065Gln) rs753324919
NM_006946.3(SPTBN2):c.3282G>A (p.Pro1094=) rs114241603
NM_006946.3(SPTBN2):c.3429A>G (p.Leu1143=) rs35370566
NM_006946.3(SPTBN2):c.3686A>G (p.His1229Arg) rs114788199
NM_006946.3(SPTBN2):c.4279-8G>A rs369614446
NM_006946.3(SPTBN2):c.4447C>T (p.Arg1483Cys) rs115062978
NM_006946.3(SPTBN2):c.4899G>A (p.Leu1633=) rs639938
NM_006946.3(SPTBN2):c.5031C>T (p.Ala1677=) rs201752194
NM_006946.3(SPTBN2):c.5340C>T (p.Asn1780=) rs623022
NM_006946.3(SPTBN2):c.5639G>A (p.Arg1880His) rs35532855
NM_006946.3(SPTBN2):c.585C>T (p.Asn195=) rs34775878
NM_006946.3(SPTBN2):c.5950-8G>A rs201759431
NM_006946.3(SPTBN2):c.6669G>A (p.Gly2223=) rs138819654
NM_006946.3(SPTBN2):c.6751C>T (p.Arg2251Trp) rs150607879
NM_006946.3(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813
NM_006946.3(SPTBN2):c.7020G>A (p.Pro2340=) rs61741217
NM_006946.3(SPTBN2):c.885+5T>C rs114331192
NM_006946.3(SPTBN2):c.968A>G (p.Gln323Arg) rs190532690
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664
NM_024411.5(PDYN):c.575A>T (p.Glu192Val) rs45469293
NM_173500.4(TTBK2):c.-8G>A rs16957250
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=) rs200405805
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro) rs56039839
NM_173500.4(TTBK2):c.1555G>C (p.Ala519Pro) rs200124857
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu) rs76000738
NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu) rs201524659
NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr) rs146515654
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068
NM_173500.4(TTBK2):c.2418A>G (p.Pro806=) rs185441376
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=) rs56307230
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val) rs180791005
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile) rs55833708
NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val) rs144199562
NM_173500.4(TTBK2):c.3543G>A (p.Ser1181=) rs199635198
NM_173500.4(TTBK2):c.3669C>T (p.His1223=) rs74398902
NM_173500.4(TTBK2):c.937A>G (p.Thr313Ala) rs56017612
NM_173500.4(TTBK2):c.980+8C>A rs143836514
NM_175929.2(FGF14):c.496T>C (p.Leu166=) rs77082831
NM_175929.2(FGF14):c.651T>C (p.His217=) rs41281644
NM_175929.2(FGF14):c.708G>A (p.Ala236=) rs34397704
NM_198994.3(TGM6):c.1040C>T (p.Pro347Leu) rs183670042
NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln) rs75122556
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr) rs79724097
NM_198994.3(TGM6):c.1171G>A (p.Val391Met) rs116904482
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys) rs144338465
NM_198994.3(TGM6):c.1235G>A (p.Arg412His) rs142679146
NM_198994.3(TGM6):c.12C>G (p.Ile4Met) rs139796716
NM_198994.3(TGM6):c.1452C>T (p.Asp484=) rs142748417
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu) rs61729226
NM_198994.3(TGM6):c.1653C>T (p.His551=) rs755072071
NM_198994.3(TGM6):c.1656C>T (p.Ala552=) rs75601099
NM_198994.3(TGM6):c.1657G>A (p.Val553Met) rs74338361
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405
NM_198994.3(TGM6):c.1953_1955dup (p.Gln652dup) rs557817405
NM_198994.3(TGM6):c.1995G>C (p.Arg665Ser) rs138807504
NM_198994.3(TGM6):c.422C>A (p.Ala141Glu) rs73894929
NM_198994.3(TGM6):c.42G>A (p.Ser14=) rs149394698
NM_198994.3(TGM6):c.555C>T (p.Asp185=) rs144101264
NM_198994.3(TGM6):c.883G>A (p.Val295Met) rs200341133

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.