ClinVar Miner

List of variants reported as uncertain significance for Unverricht-Lundborg syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 197
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HGVS dbSNP
NC_000004.11:g.(?_77082846)_(77102274_?)dup
NC_000004.11:g.(?_77116840)_(77134716_?)dup
NC_000012.11:g.(?_42853591)_(42866338_?)dup
NC_000021.8:g.(?_45194063)_(45196170_?)dup
NM_000100.3(CSTB):c.158A>G (p.Tyr53Cys)
NM_000100.3(CSTB):c.169G>A (p.Val57Met) rs796052394
NM_000100.3(CSTB):c.175G>A (p.Val59Ile)
NM_000100.3(CSTB):c.191T>G (p.Phe64Cys) rs1569005540
NM_000100.3(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_000100.3(CSTB):c.1_2insAT (p.Met1fs) rs1044894207
NM_000100.3(CSTB):c.203G>C (p.Arg68Pro) rs757707761
NM_000100.3(CSTB):c.221C>T (p.Pro74Leu)
NM_000100.3(CSTB):c.28C>G (p.Gln10Glu) rs1399970116
NM_000100.3(CSTB):c.290A>G (p.Tyr97Cys) rs1186810947
NM_000100.3(CSTB):c.29A>C (p.Gln10Pro) rs569851503
NM_000100.3(CSTB):c.55A>G (p.Ile19Val) rs1349028244
NM_004287.4(GOSR2):c.101A>G (p.Glu34Gly)
NM_004287.4(GOSR2):c.128A>G (p.Gln43Arg)
NM_004287.4(GOSR2):c.133T>C (p.Phe45Leu) rs1060500714
NM_004287.4(GOSR2):c.154G>A (p.Glu52Lys)
NM_004287.4(GOSR2):c.203+3A>G rs201423456
NM_004287.4(GOSR2):c.205C>A (p.Arg69=)
NM_004287.4(GOSR2):c.205C>T (p.Arg69Trp) rs770149230
NM_004287.4(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.4(GOSR2):c.235C>T (p.His79Tyr) rs1568171907
NM_004287.4(GOSR2):c.258C>G (p.Asn86Lys)
NM_004287.4(GOSR2):c.266A>G (p.His89Arg)
NM_004287.4(GOSR2):c.272G>A (p.Arg91His)
NM_004287.4(GOSR2):c.331A>G (p.Thr111Ala)
NM_004287.4(GOSR2):c.350C>T (p.Thr117Ile)
NM_004287.4(GOSR2):c.358A>G (p.Met120Val) rs769454681
NM_004287.4(GOSR2):c.47A>C (p.Gln16Pro)
NM_004287.4(GOSR2):c.509A>G (p.Asn170Ser) rs150907052
NM_004287.4(GOSR2):c.541C>G (p.Leu181Val) rs772342696
NM_004287.4(GOSR2):c.557_584del (p.Ala186fs) rs796052541
NM_004287.4(GOSR2):c.57G>A (p.Met19Ile) rs369247929
NM_004287.4(GOSR2):c.619G>A (p.Val207Met) rs780839289
NM_004287.4(GOSR2):c.636A>G (p.Thr212=) rs990159762
NM_004287.4(GOSR2):c.637T>C (p.Ter213Arg)
NM_004287.4(GOSR2):c.68A>G (p.Glu23Gly) rs200071814
NM_004287.4(GOSR2):c.71C>T (p.Thr24Met)
NM_004287.4(GOSR2):c.77A>G (p.Asp26Gly) rs773543394
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129
NM_005506.4(SCARB2):c.1057A>G (p.Ile353Val)
NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr)
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) rs144147706
NM_005506.4(SCARB2):c.117G>A (p.Lys39=)
NM_005506.4(SCARB2):c.1194G>A (p.Thr398=) rs574498998
NM_005506.4(SCARB2):c.11G>A (p.Cys4Tyr) rs1196467385
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val)
NM_005506.4(SCARB2):c.1229A>T (p.Tyr410Phe) rs777270813
NM_005506.4(SCARB2):c.1235A>G (p.Asn412Ser) rs771661901
NM_005506.4(SCARB2):c.1239+8C>G rs369265725
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met) rs149474488
NM_005506.4(SCARB2):c.1265C>T (p.Ala422Val) rs756606813
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln) rs751827409
NM_005506.4(SCARB2):c.1302C>G (p.Ile434Met)
NM_005506.4(SCARB2):c.1327A>G (p.Met443Val)
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr) rs141250135
NM_005506.4(SCARB2):c.1373G>T (p.Cys458Phe)
NM_005506.4(SCARB2):c.1382_1383del (p.Gln461fs) rs1233094134
NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val)
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys) rs138955932
NM_005506.4(SCARB2):c.223A>T (p.Ile75Phe) rs1560716099
NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp) rs142690468
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys) rs145870223
NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe) rs752416481
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr) rs148022786
NM_005506.4(SCARB2):c.381C>G (p.Asp127Glu) rs1553948511
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser) rs143558324
NM_005506.4(SCARB2):c.443A>G (p.Gln148Arg) rs1560710284
NM_005506.4(SCARB2):c.463A>G (p.Ile155Val) rs772434203
NM_005506.4(SCARB2):c.515C>T (p.Thr172Ile)
NM_005506.4(SCARB2):c.638A>T (p.Tyr213Phe) rs751953388
NM_005506.4(SCARB2):c.705-7A>G
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser) rs199837910
NM_005506.4(SCARB2):c.752C>T (p.Thr251Ile) rs1553948166
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199
NM_005506.4(SCARB2):c.825-3C>T
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser) rs149997095
NM_005506.4(SCARB2):c.869T>A (p.Leu290Gln) rs1553948019
NM_005506.4(SCARB2):c.903A>G (p.Ile301Met) rs1485497925
NM_005506.4(SCARB2):c.911A>G (p.Asn304Ser) rs150870503
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn) rs142392473
NM_005506.4(SCARB2):c.962C>T (p.Ser321Leu) rs1553947990
NM_005506.4(SCARB2):c.9A>G (p.Arg3=) rs148558907
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg) rs753397854
NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr) rs763719276
NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu) rs1229724993
NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly)
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln) rs550455609
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256
NM_005670.4(EPM2A):c.241G>A (p.Val81Met) rs747386643
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938
NM_005670.4(EPM2A):c.272G>A (p.Arg91Gln)
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp)
NM_005670.4(EPM2A):c.31C>T (p.Pro11Ser)
NM_005670.4(EPM2A):c.323G>A (p.Arg108His) rs202234583
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser) rs1480939817
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser) rs61757376
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala)
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr) rs796052430
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val)
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys)
NM_005670.4(EPM2A):c.4_39del (p.Arg2_Val13del)
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys) rs191406622
NM_005670.4(EPM2A):c.600G>T (p.Gln200His) rs142658692
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr)
NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu)
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala) rs1278542056
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val) rs144565191
NM_005670.4(EPM2A):c.67G>C (p.Val23Leu) rs1060503233
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005670.4(EPM2A):c.701C>A (p.Pro234Gln) rs1554256976
NM_005670.4(EPM2A):c.706A>G (p.Met236Val) rs906096146
NM_005670.4(EPM2A):c.70G>C (p.Gly24Arg) rs1554269710
NM_005670.4(EPM2A):c.719-2A>T rs772082648
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg)
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val) rs374043005
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) rs1387516050
NM_005670.4(EPM2A):c.758A>T (p.His253Leu)
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu) rs200641543
NM_005670.4(EPM2A):c.77G>T (p.Arg26Leu) rs796052433
NM_005670.4(EPM2A):c.815G>A (p.Arg272His) rs958366800
NM_005670.4(EPM2A):c.825G>A (p.Ala275=) rs762115387
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys) rs897601301
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr) rs755742563
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)
NM_005670.4(EPM2A):c.92G>A (p.Arg31His) rs1562535536
NM_005670.4(EPM2A):c.94T>A (p.Trp32Arg)
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro) rs768781694
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr)
NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln) rs757911190
NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln)
NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys) rs748636455
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg) rs376384105
NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met) rs151332996
NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe)
NM_153026.3(PRICKLE1):c.1299T>G (p.Asn433Lys) rs779594296
NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=) rs377668062
NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys) rs748454609
NM_153026.3(PRICKLE1):c.139del (p.Leu47fs) rs1555230922
NM_153026.3(PRICKLE1):c.1412T>C (p.Met471Thr)
NM_153026.3(PRICKLE1):c.1413_1414delinsTC (p.Met471_Tyr472delinsIleHis) rs1060502985
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) rs570770626
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser) rs139901494
NM_153026.3(PRICKLE1):c.1600C>T (p.Arg534Trp) rs936545109
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425
NM_153026.3(PRICKLE1):c.1607C>T (p.Ser536Leu) rs150766064
NM_153026.3(PRICKLE1):c.1609A>G (p.Met537Val) rs1437950772
NM_153026.3(PRICKLE1):c.1621G>T (p.Ala541Ser) rs763169354
NM_153026.3(PRICKLE1):c.1639+5G>A rs201450953
NM_153026.3(PRICKLE1):c.1648G>A (p.Val550Met) rs760050261
NM_153026.3(PRICKLE1):c.1655G>A (p.Gly552Glu) rs1055556905
NM_153026.3(PRICKLE1):c.1771A>G (p.Ser591Gly)
NM_153026.3(PRICKLE1):c.1888C>G (p.Gln630Glu) rs200171609
NM_153026.3(PRICKLE1):c.2012A>T (p.His671Leu) rs1555229335
NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr)
NM_153026.3(PRICKLE1):c.2089C>T (p.Pro697Ser) rs781672373
NM_153026.3(PRICKLE1):c.2097C>A (p.Asp699Glu) rs1555229289
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) rs369790443
NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp)
NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met) rs1555229265
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632
NM_153026.3(PRICKLE1):c.2272_2274GAT[2] (p.Asp760del) rs557205452
NM_153026.3(PRICKLE1):c.2316G>A (p.Ser772=) rs143240342
NM_153026.3(PRICKLE1):c.2324A>G (p.Glu775Gly) rs1239945627
NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His)
NM_153026.3(PRICKLE1):c.2431G>A (p.Gly811Ser) rs751446088
NM_153026.3(PRICKLE1):c.2473G>A (p.Gly825Ser) rs1555229171
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) rs566073131
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) rs35731866
NM_153026.3(PRICKLE1):c.400A>C (p.Asn134His) rs200558941
NM_153026.3(PRICKLE1):c.424G>A (p.Ala142Thr) rs1060502984
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) rs146650383
NM_153026.3(PRICKLE1):c.445G>A (p.Val149Met)
NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg) rs1566084587
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr) rs746768839
NM_153026.3(PRICKLE1):c.509A>G (p.Tyr170Cys)
NM_153026.3(PRICKLE1):c.588+5A>C
NM_153026.3(PRICKLE1):c.625C>T (p.Arg209Cys) rs777944504
NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg) rs772276749
NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met) rs754218148
NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn) rs1443820017
NM_153026.3(PRICKLE1):c.72T>G (p.Asp24Glu) rs1566087431
NM_153026.3(PRICKLE1):c.743C>T (p.Ala248Val) rs1566082169
NM_153026.3(PRICKLE1):c.776G>A (p.Gly259Asp) rs1555230194
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948
NM_153026.3(PRICKLE1):c.853A>C (p.Lys285Gln) rs1555230175
NM_153026.3(PRICKLE1):c.914C>T (p.Thr305Met)
NM_153026.3(PRICKLE1):c.992G>A (p.Arg331Gln) rs778192552

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