ClinVar Miner

List of variants in gene PPT1 reported as likely pathogenic for Ceroid lipofuscinosis neuronal 1

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Total variants: 85
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HGVS dbSNP
NM_000310.3(PPT1):c.*526_*529del rs386833624
NM_000310.3(PPT1):c.114G>A (p.Trp38Ter) rs386833626
NM_000310.3(PPT1):c.114G>T (p.Trp38Cys) rs386833626
NM_000310.3(PPT1):c.114del (p.Trp38fs) rs386833625
NM_000310.3(PPT1):c.117T>A (p.His39Gln) rs386833627
NM_000310.3(PPT1):c.124+1G>A rs386833628
NM_000310.3(PPT1):c.124+2T>A rs1057517368
NM_000310.3(PPT1):c.125-15T>G rs386833629
NM_000310.3(PPT1):c.125-2A>G rs386833630
NM_000310.3(PPT1):c.125G>A (p.Gly42Glu) rs386833631
NM_000310.3(PPT1):c.133T>C (p.Cys45Arg) rs878853323
NM_000310.3(PPT1):c.135_137dup (p.Cys46dup) rs386833632
NM_000310.3(PPT1):c.146T>G (p.Leu49Ter) rs1557714302
NM_000310.3(PPT1):c.163A>T (p.Lys55Ter) rs386833633
NM_000310.3(PPT1):c.169dup (p.Met57fs) rs386833634
NM_000310.3(PPT1):c.175del (p.Glu59fs) rs386833635
NM_000310.3(PPT1):c.184del (p.Ile62fs) rs1057517192
NM_000310.3(PPT1):c.18_21del (p.Leu7fs) rs1553167863
NM_000310.3(PPT1):c.1A>G (p.Met1Val) rs1085307087
NM_000310.3(PPT1):c.235-3T>C rs386833636
NM_000310.3(PPT1):c.271_287delinsTT (p.Gln91_Cys96delinsPhe) rs386833638
NM_000310.3(PPT1):c.272A>C (p.Gln91Pro) rs386833639
NM_000310.3(PPT1):c.281_282del (p.Thr94fs) rs1553167479
NM_000310.3(PPT1):c.287G>A (p.Cys96Tyr) rs386833640
NM_000310.3(PPT1):c.294_297dup (p.Ala100fs) rs1057517049
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.29_41dup (p.Leu15fs) rs762226836
NM_000310.3(PPT1):c.2T>C (p.Met1Thr) rs796052927
NM_000310.3(PPT1):c.310A>T (p.Lys104Ter) rs386833641
NM_000310.3(PPT1):c.325T>G (p.Tyr109Asp) rs386833642
NM_000310.3(PPT1):c.327C>A (p.Tyr109Ter) rs1057516447
NM_000310.3(PPT1):c.338del (p.Gly113fs) rs1553167474
NM_000310.3(PPT1):c.362+1G>A rs1057517401
NM_000310.3(PPT1):c.363-2A>G rs1553167430
NM_000310.3(PPT1):c.363-3T>G rs386833643
NM_000310.3(PPT1):c.398del (p.Met133fs) rs386833644
NM_000310.3(PPT1):c.3G>A (p.Met1Ile) rs386833645
NM_000310.3(PPT1):c.413C>T (p.Ser138Leu) rs386833646
NM_000310.3(PPT1):c.424C>T (p.Gln142Ter) rs796052925
NM_000310.3(PPT1):c.433+1G>A rs1553167415
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.455G>A (p.Cys152Tyr) rs386833647
NM_000310.3(PPT1):c.456C>A (p.Cys152Ter) rs386833648
NM_000310.3(PPT1):c.471delT
NM_000310.3(PPT1):c.48_54del (p.Trp17fs) rs1057517112
NM_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000310.3(PPT1):c.529C>T (p.Gln177Ter) rs386833650
NM_000310.3(PPT1):c.532delG (p.Glu178Asnfs) rs878853325
NM_000310.3(PPT1):c.536+1G>A rs386833651
NM_000310.3(PPT1):c.536+2T>C rs386833652
NM_000310.3(PPT1):c.538dup (p.Leu180fs) rs386833653
NM_000310.3(PPT1):c.541G>A (p.Val181Met) rs148412181
NM_000310.3(PPT1):c.541G>T (p.Val181Leu) rs148412181
NM_000310.3(PPT1):c.544C>T (p.Gln182Ter) rs386833654
NM_000310.3(PPT1):c.550G>A (p.Glu184Lys) rs386833655
NM_000310.3(PPT1):c.558G>A (p.Trp186Ter) rs386833656
NM_000310.3(PPT1):c.560A>G (p.His187Arg) rs386833657
NM_000310.3(PPT1):c.566C>G (p.Pro189Arg) rs386833658
NM_000310.3(PPT1):c.627+1G>T rs1265044710
NM_000310.3(PPT1):c.628-1G>T rs386833659
NM_000310.3(PPT1):c.644del (p.Tyr215fs) rs386833660
NM_000310.3(PPT1):c.653dup (p.Asn218fs) rs1057516889
NM_000310.3(PPT1):c.665T>C (p.Leu222Pro) rs386833661
NM_000310.3(PPT1):c.674T>C (p.Phe225Ser) rs386833662
NM_000310.3(PPT1):c.683T>G (p.Val228Gly) rs386833663
NM_000310.3(PPT1):c.707T>A (p.Val236Glu) rs878853324
NM_000310.3(PPT1):c.713C>T (p.Pro238Leu) rs878853322
NM_000310.3(PPT1):c.721del (p.Ser241fs) rs1553166499
NM_000310.3(PPT1):c.727-2A>T rs386833664
NM_000310.3(PPT1):c.739T>C (p.Tyr247His) rs386833665
NM_000310.3(PPT1):c.749G>T (p.Gly250Val) rs386833666
NM_000310.3(PPT1):c.774dup (p.Gln259fs) rs386833667
NM_000310.3(PPT1):c.776dup (p.Glu260fs) rs1349528345
NM_000310.3(PPT1):c.798+1G>T rs878853929
NM_000310.3(PPT1):c.798+2T>C rs1553166337
NM_000310.3(PPT1):c.799-2A>G rs1553166147
NM_000310.3(PPT1):c.821dup (p.Met274fs) rs1057516575
NM_000310.3(PPT1):c.835C>T (p.Gln279Ter) rs1553166135
NM_000310.3(PPT1):c.871C>T (p.Gln291Ter) rs386833668
NM_000310.3(PPT1):c.886T>C (p.Trp296Arg) rs386833669
NM_000310.3(PPT1):c.888G>A (p.Trp296Ter) rs386833670
NM_000310.3(PPT1):c.8C>A (p.Ser3Ter) rs747204624
NM_000310.3(PPT1):c.914T>C (p.Leu305Pro) rs386833671
NM_001142604.2(PPT1):c.125-2646CTT[2] rs386833637
NM_001142604.2(PPT1):c.181C>T (p.Arg61Ter) rs386833649

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