ClinVar Miner

List of variants reported as uncertain significance for adolescent-onset epilepsy syndrome by Counsyl

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP
NM_000086.2(CLN3):c.1256G>A (p.Gly419Glu) rs796052338
NM_000086.2(CLN3):c.725_727AAG[2] (p.Glu244del) rs796052340
NM_000086.2(CLN3):c.837+5G>A rs756848924
NM_000086.2(CLN3):c.853A>G (p.Ile285Val) rs748844685
NM_000310.3(PPT1):c.*529_*530insAGCA rs1553166029
NM_000310.3(PPT1):c.*529_*530insATCG rs1475500814
NM_000310.3(PPT1):c.*529_*530insGTCA rs1553166030
NM_000310.3(PPT1):c.175_177del (p.Glu59del) rs1553167495
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) rs386833640
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000310.3(PPT1):c.722C>T (p.Ser241Leu) rs746043871
NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del) rs1554901785
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp) rs1554901784
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576
NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer) rs763961289
NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg) rs1348967263
NM_000391.4(TPP1):c.225A>G (p.Gln75=) rs368709098
NM_000391.4(TPP1):c.457T>C (p.Ser153Pro) rs1554902028
NM_000391.4(TPP1):c.508+2dup rs1554902017
NM_000391.4(TPP1):c.731T>C (p.Met244Thr) rs1554901895
NM_000391.4(TPP1):c.833A>C (p.Gln278Pro) rs796053439
NM_001142604.2(PPT1):c.*521_*532dup rs1553166026
NM_006493.2(CLN5):c.1A>C (p.Met1Leu) rs1268502139
NM_006493.2(CLN5):c.1A>G (p.Met1Val) rs1268502139
NM_006493.2(CLN5):c.2T>A (p.Met1Lys) rs201615354
NM_006493.4(CLN5):c.-7C>A rs1555273557
NM_006493.4(CLN5):c.1034_1037dup (p.Pro347fs) rs1555274391
NM_006493.4(CLN5):c.1048_1051dup (p.Arg351fs) rs1555274402
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211
NM_006493.4(CLN5):c.33_50dup (p.Glu12_Ala17dup) rs1555273571
NM_006493.4(CLN5):c.47_52GCGCGG[3] (p.16_17GA[3]) rs1409904698
NM_006493.4(CLN5):c.553_561del (p.Ala185_Ile187del) rs1555274012
NM_006493.4(CLN5):c.565+2dup rs1476787722
NM_006493.4(CLN5):c.974A>G (p.Tyr325Cys) rs148862100
NM_017882.3(CLN6):c.139C>T (p.Leu47Phe) rs154774635
NM_017882.3(CLN6):c.13C>T (p.Arg5Trp) rs886285802
NM_017882.3(CLN6):c.184C>T (p.Arg62Cys) rs1451777867
NM_017882.3(CLN6):c.304G>A (p.Glu102Lys) rs796052352
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln) rs154774634
NM_017882.3(CLN6):c.349_351ATC[2] (p.Ile119del) rs886051447
NM_017882.3(CLN6):c.373A>G (p.Ser125Gly) rs772893554
NM_017882.3(CLN6):c.443T>A (p.Val148Asp) rs1555438678
NM_017882.3(CLN6):c.446G>A (p.Arg149His) rs154774638
NM_017882.3(CLN6):c.49G>A (p.Gly17Ser) rs763944821
NM_017882.3(CLN6):c.506T>C (p.Leu169Pro) rs1344658850
NM_017882.3(CLN6):c.509A>G (p.Tyr170Cys) rs750081097
NM_017882.3(CLN6):c.5A>G (p.Glu2Gly) rs3743088
NM_017882.3(CLN6):c.601A>G (p.Lys201Glu) rs587780316
NM_017882.3(CLN6):c.702C>A (p.Phe234Leu) rs1555438267
NM_017882.3(CLN6):c.728C>T (p.Ala243Val) rs767164948
NM_017882.3(CLN6):c.755G>A (p.Arg252His) rs374681194
NM_017882.3(CLN6):c.775G>T (p.Gly259Cys) rs150363441
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg) rs750937323
NM_017882.3(CLN6):c.909C>A (p.Tyr303Ter) rs1448520404
NM_018941.3(CLN8):c.-123-1G>C rs1554448791
NM_018941.3(CLN8):c.-131_-124+13del21 rs1554446821
NM_018941.3(CLN8):c.611G>A (p.Arg204His) rs386834134
NM_018941.3(CLN8):c.681T>A (p.Tyr227Ter) rs1554451561
NM_018941.3(CLN8):c.806A>T (p.Glu269Val) rs139003032

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.