ClinVar Miner

List of variants in gene PRRT2 studied for Paroxysmal kinesigenic dyskinesia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 218
Download table as spreadsheet
HGVS dbSNP
NC_000016.10:g.(?_29813035)_(29814658_?)del
NC_000016.10:g.(?_29813045)_(29814648_?)del
NC_000016.9:g.(?_29824356)_(29825979_?)dup
NC_000016.9:g.(?_29824366)_(29825969_?)dup
NM_145239.3(PRRT2):c.1010G>A (p.Gly337Asp)
NM_145239.3(PRRT2):c.1011C>T (p.Gly337=) rs745970212
NM_145239.3(PRRT2):c.1012+58_1013del
NM_145239.3(PRRT2):c.1012+7G>A
NM_145239.3(PRRT2):c.1013-2A>G
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) rs144540943
NM_145239.3(PRRT2):c.1016A>G (p.Tyr339Cys) rs1596895035
NM_145239.3(PRRT2):c.1020G>A (p.Lys340=) rs794727658
NM_145239.3(PRRT2):c.106del (p.Gln36fs) rs1596889984
NM_145239.3(PRRT2):c.108G>C (p.Gln36His)
NM_145239.3(PRRT2):c.115G>A (p.Ala39Thr)
NM_145239.3(PRRT2):c.118G>A (p.Gly40Arg)
NM_145239.3(PRRT2):c.125C>T (p.Pro42Leu) rs1166053009
NM_145239.3(PRRT2):c.133C>T (p.Pro45Ser) rs11556732
NM_145239.3(PRRT2):c.143C>T (p.Pro48Leu)
NM_145239.3(PRRT2):c.144G>A (p.Pro48=)
NM_145239.3(PRRT2):c.14G>C (p.Ser5Thr) rs745742339
NM_145239.3(PRRT2):c.15C>T (p.Ser5=)
NM_145239.3(PRRT2):c.15CTCTGAGAT[3] (p.Ile8_Glu10dup)
NM_145239.3(PRRT2):c.167C>T (p.Ala56Val)
NM_145239.3(PRRT2):c.168G>A (p.Ala56=)
NM_145239.3(PRRT2):c.170C>A (p.Ala57Asp)
NM_145239.3(PRRT2):c.171C>T (p.Ala57=) rs771487218
NM_145239.3(PRRT2):c.176T>A (p.Val59Glu)
NM_145239.3(PRRT2):c.183A>G (p.Ser61=) rs775396962
NM_145239.3(PRRT2):c.189del (p.Lys64fs)
NM_145239.3(PRRT2):c.192G>A (p.Lys64=)
NM_145239.3(PRRT2):c.201G>A (p.Leu67=) rs1416186042
NM_145239.3(PRRT2):c.211A>T (p.Thr71Ser)
NM_145239.3(PRRT2):c.221C>A (p.Thr74Asn) rs1394261454
NM_145239.3(PRRT2):c.222C>G (p.Thr74=) rs1555502624
NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu) rs147004110
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) rs199662641
NM_145239.3(PRRT2):c.226G>A (p.Ala76Thr)
NM_145239.3(PRRT2):c.232G>A (p.Ala78Thr)
NM_145239.3(PRRT2):c.232G>C (p.Ala78Pro)
NM_145239.3(PRRT2):c.236C>T (p.Ser79Leu)
NM_145239.3(PRRT2):c.259C>G (p.Leu87Val) rs1596890511
NM_145239.3(PRRT2):c.268A>G (p.Ser90Gly)
NM_145239.3(PRRT2):c.270C>A (p.Ser90Arg)
NM_145239.3(PRRT2):c.272C>T (p.Pro91Leu)
NM_145239.3(PRRT2):c.274G>A (p.Gly92Arg)
NM_145239.3(PRRT2):c.279G>A (p.Gly93=) rs1596890586
NM_145239.3(PRRT2):c.280G>A (p.Glu94Lys)
NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs)
NM_145239.3(PRRT2):c.296G>A (p.Cys99Tyr)
NM_145239.3(PRRT2):c.299G>A (p.Ser100Asn) rs1596890680
NM_145239.3(PRRT2):c.303C>T (p.Pro101=) rs570325174
NM_145239.3(PRRT2):c.303del (p.Glu102fs) rs1596890692
NM_145239.3(PRRT2):c.31A>T (p.Met11Leu)
NM_145239.3(PRRT2):c.322A>T (p.Thr108Ser)
NM_145239.3(PRRT2):c.323_324del (p.Thr108fs) rs886041327
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs) rs886042013
NM_145239.3(PRRT2):c.32T>C (p.Met11Thr)
NM_145239.3(PRRT2):c.349G>C (p.Glu117Gln)
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr) rs201636905
NM_145239.3(PRRT2):c.354C>T (p.Ala118=)
NM_145239.3(PRRT2):c.357T>G (p.Thr119=) rs137942866
NM_145239.3(PRRT2):c.368G>A (p.Gly123Glu) rs758798693
NM_145239.3(PRRT2):c.368G>T (p.Gly123Val)
NM_145239.3(PRRT2):c.375G>C (p.Arg125Ser)
NM_145239.3(PRRT2):c.37G>A (p.Gly13Arg) rs770164221
NM_145239.3(PRRT2):c.39G>A (p.Gly13=)
NM_145239.3(PRRT2):c.401C>G (p.Pro134Arg)
NM_145239.3(PRRT2):c.404_427del (p.Ala135_Pro142del)
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala) rs79182085
NM_145239.3(PRRT2):c.417T>C (p.Ala139=) rs1596891097
NM_145239.3(PRRT2):c.418C>T (p.Pro140Ser)
NM_145239.3(PRRT2):c.430C>G (p.Pro144Ala)
NM_145239.3(PRRT2):c.432C>T (p.Pro144=) rs749031499
NM_145239.3(PRRT2):c.433C>T (p.Arg145Trp) rs574304021
NM_145239.3(PRRT2):c.434G>A (p.Arg145Gln) rs200877676
NM_145239.3(PRRT2):c.435G>T (p.Arg145=)
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162
NM_145239.3(PRRT2):c.449dup (p.Thr151fs)
NM_145239.3(PRRT2):c.455C>A (p.Pro152His) rs760278435
NM_145239.3(PRRT2):c.455C>G (p.Pro152Arg)
NM_145239.3(PRRT2):c.464C>G (p.Ala155Gly)
NM_145239.3(PRRT2):c.46G>A (p.Glu16Lys)
NM_145239.3(PRRT2):c.472C>T (p.Pro158Ser)
NM_145239.3(PRRT2):c.490G>A (p.Glu164Lys)
NM_145239.3(PRRT2):c.493G>A (p.Asp165Asn) rs1319381076
NM_145239.3(PRRT2):c.503C>T (p.Pro168Leu)
NM_145239.3(PRRT2):c.503del (p.Pro168fs)
NM_145239.3(PRRT2):c.509T>G (p.Ile170Ser)
NM_145239.3(PRRT2):c.516dup (p.Glu173Ter) rs730882068
NM_145239.3(PRRT2):c.519G>A (p.Glu173=) rs372588022
NM_145239.3(PRRT2):c.528G>A (p.Gly176=) rs749569594
NM_145239.3(PRRT2):c.543_544del (p.Asn181fs)
NM_145239.3(PRRT2):c.547G>C (p.Ala183Pro) rs770599131
NM_145239.3(PRRT2):c.55A>C (p.Lys19Gln)
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.569G>C (p.Gly190Ala)
NM_145239.3(PRRT2):c.579dup (p.Glu194fs)
NM_145239.3(PRRT2):c.580G>A (p.Glu194Lys) rs139516010
NM_145239.3(PRRT2):c.593_594del (p.Pro198fs) rs1260966131
NM_145239.3(PRRT2):c.603C>G (p.His201Gln) rs543313284
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs) rs1064793851
NM_145239.3(PRRT2):c.612C>G (p.Pro204=) rs149260055
NM_145239.3(PRRT2):c.623C>A (p.Ser208Tyr) rs201409113
NM_145239.3(PRRT2):c.623C>T (p.Ser208Phe) rs201409113
NM_145239.3(PRRT2):c.624C>T (p.Ser208=)
NM_145239.3(PRRT2):c.635A>G (p.Asn212Ser) rs779020826
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874
NM_145239.3(PRRT2):c.641C>G (p.Ala214Gly)
NM_145239.3(PRRT2):c.642C>A (p.Ala214=) rs1237572544
NM_145239.3(PRRT2):c.643C>T (p.Pro215Ser) rs374642875
NM_145239.3(PRRT2):c.644C>G (p.Pro215Arg) rs200926711
NM_145239.3(PRRT2):c.645C>T (p.Pro215=) rs183683129
NM_145239.3(PRRT2):c.647C>A (p.Pro216His) rs76335820
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.648C>G (p.Pro216=) rs772805935
NM_145239.3(PRRT2):c.648C>T (p.Pro216=) rs772805935
NM_145239.3(PRRT2):c.649C>A (p.Arg217=)
NM_145239.3(PRRT2):c.649C>G (p.Arg217Gly)
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_145239.3(PRRT2):c.651A>G (p.Arg217=)
NM_145239.3(PRRT2):c.653_660dup (p.Gln221fs)
NM_145239.3(PRRT2):c.661C>T (p.Gln221Ter) rs1567379819
NM_145239.3(PRRT2):c.667G>A (p.Val223Ile)
NM_145239.3(PRRT2):c.66C>T (p.Gly22=) rs775756146
NM_145239.3(PRRT2):c.674A>C (p.Glu225Ala)
NM_145239.3(PRRT2):c.679C>G (p.Arg227Gly)
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655
NM_145239.3(PRRT2):c.696C>T (p.His232=) rs570108715
NM_145239.3(PRRT2):c.697_698del (p.Ser233fs) rs1596892401
NM_145239.3(PRRT2):c.698G>A (p.Ser233Asn)
NM_145239.3(PRRT2):c.702G>A (p.Gly234=)
NM_145239.3(PRRT2):c.708A>G (p.Pro236=)
NM_145239.3(PRRT2):c.709G>A (p.Gly237Arg) rs199556853
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter) rs387907126
NM_145239.3(PRRT2):c.719G>A (p.Arg240Gln) rs758246761
NM_145239.3(PRRT2):c.721G>A (p.Gly241Ser)
NM_145239.3(PRRT2):c.723T>C (p.Gly241=)
NM_145239.3(PRRT2):c.733_744del (p.Arg245_Ser248del)
NM_145239.3(PRRT2):c.734G>A (p.Arg245His) rs754897123
NM_145239.3(PRRT2):c.739_740delinsAT (p.Pro247Ile)
NM_145239.3(PRRT2):c.742dup (p.Ser248fs) rs1596892633
NM_145239.3(PRRT2):c.745T>C (p.Ser249Pro) rs944092875
NM_145239.3(PRRT2):c.751= (p.Leu251=) rs11150573
NM_145239.3(PRRT2):c.751T>C (p.Leu251=) rs11150573
NM_145239.3(PRRT2):c.753G>A (p.Leu251=)
NM_145239.3(PRRT2):c.755C>G (p.Ala252Gly) rs1053144630
NM_145239.3(PRRT2):c.757G>A (p.Gly253Ser) rs1567379996
NM_145239.3(PRRT2):c.764G>A (p.Gly255Glu)
NM_145239.3(PRRT2):c.766G>A (p.Val256Met)
NM_145239.3(PRRT2):c.767T>A (p.Val256Glu)
NM_145239.3(PRRT2):c.772G>C (p.Gly258Arg) rs996840274
NM_145239.3(PRRT2):c.773G>A (p.Gly258Glu) rs560303559
NM_145239.3(PRRT2):c.776del (p.Gly259fs)
NM_145239.3(PRRT2):c.776dup (p.Gly259_Glu260insTer)
NM_145239.3(PRRT2):c.797G>A (p.Arg266Gln) rs765285598
NM_145239.3(PRRT2):c.809T>A (p.Ile270Asn)
NM_145239.3(PRRT2):c.828C>T (p.Cys276=) rs35625748
NM_145239.3(PRRT2):c.82T>C (p.Ser28Pro)
NM_145239.3(PRRT2):c.83C>G (p.Ser28Cys)
NM_145239.3(PRRT2):c.842G>A (p.Trp281Ter)
NM_145239.3(PRRT2):c.843G>A (p.Trp281Ter) rs1596893055
NM_145239.3(PRRT2):c.845C>T (p.Pro282Leu) rs1596893062
NM_145239.3(PRRT2):c.848_863del (p.Val283fs) rs1596893071
NM_145239.3(PRRT2):c.855C>T (p.Ile285=)
NM_145239.3(PRRT2):c.856G>A (p.Val286Met) rs751344101
NM_145239.3(PRRT2):c.859G>C (p.Ala287Pro)
NM_145239.3(PRRT2):c.85G>A (p.Glu29Lys) rs1555502574
NM_145239.3(PRRT2):c.865G>A (p.Ala289Thr)
NM_145239.3(PRRT2):c.866C>T (p.Ala289Val) rs1446585759
NM_145239.3(PRRT2):c.871G>A (p.Ala291Thr) rs1596893141
NM_145239.3(PRRT2):c.879+10A>G
NM_145239.3(PRRT2):c.879+1_879+2insGGTCCCA
NM_145239.3(PRRT2):c.879+4A>C
NM_145239.3(PRRT2):c.879+6C>A rs201887920
NM_145239.3(PRRT2):c.879+8C>T
NM_145239.3(PRRT2):c.880-10C>T
NM_145239.3(PRRT2):c.880-1G>A
NM_145239.3(PRRT2):c.880-1G>T rs1596893952
NM_145239.3(PRRT2):c.880-34G>A
NM_145239.3(PRRT2):c.880-5C>T
NM_145239.3(PRRT2):c.883C>T (p.Arg295Trp)
NM_145239.3(PRRT2):c.884G>A (p.Arg295Gln) rs1468206811
NM_145239.3(PRRT2):c.891C>G (p.Ser297Arg)
NM_145239.3(PRRT2):c.8C>G (p.Ala3Gly) rs1555502548
NM_145239.3(PRRT2):c.907G>A (p.Val303Met)
NM_145239.3(PRRT2):c.912C>T (p.Asp304=) rs759633234
NM_145239.3(PRRT2):c.913G>A (p.Gly305Arg) rs767799831
NM_145239.3(PRRT2):c.914G>C (p.Gly305Ala)
NM_145239.3(PRRT2):c.916G>T (p.Ala306Ser) rs727504111
NM_145239.3(PRRT2):c.916_934del (p.Gly305_Ala306insTer)
NM_145239.3(PRRT2):c.917C>T (p.Ala306Val)
NM_145239.3(PRRT2):c.921del (p.Gln307fs)
NM_145239.3(PRRT2):c.922C>G (p.Arg308Gly)
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys) rs932713001
NM_145239.3(PRRT2):c.923G>A (p.Arg308His) rs989894169
NM_145239.3(PRRT2):c.923G>C (p.Arg308Pro)
NM_145239.3(PRRT2):c.926T>C (p.Leu309Pro)
NM_145239.3(PRRT2):c.931C>T (p.Arg311Trp) rs760521217
NM_145239.3(PRRT2):c.932G>A (p.Arg311Gln)
NM_145239.3(PRRT2):c.932G>C (p.Arg311Pro) rs866838115
NM_145239.3(PRRT2):c.936A>T (p.Val312=) rs1057520864
NM_145239.3(PRRT2):c.943C>T (p.Leu315Phe)
NM_145239.3(PRRT2):c.945C>G (p.Leu315=)
NM_145239.3(PRRT2):c.950G>A (p.Ser317Asn) rs387907125
NM_145239.3(PRRT2):c.960G>A (p.Ala320=) rs753833531
NM_145239.3(PRRT2):c.961C>T (p.Leu321=) rs756741951
NM_145239.3(PRRT2):c.966G>A (p.Val322=)
NM_145239.3(PRRT2):c.971G>A (p.Gly324Glu)
NM_145239.3(PRRT2):c.971del (p.Gly324fs) rs796052941
NM_145239.3(PRRT2):c.971dup (p.Val325fs)
NM_145239.3(PRRT2):c.974T>C (p.Val325Ala)
NM_145239.3(PRRT2):c.988G>A (p.Ala330Thr)
NM_145239.3(PRRT2):c.996C>T (p.Cys332=)
NM_145239.3(PRRT2):c.997G>A (p.Val333Ile) rs749851660

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.