ClinVar Miner

List of variants reported as likely pathogenic for Ceroid lipofuscinosis neuronal 5

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Total variants: 47
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HGVS dbSNP
NM_006493.4(CLN5):c.119del (p.Gly40fs) rs1555273609
NM_006493.4(CLN5):c.131_132TC[1] (p.Ser45fs) rs780198002
NM_006493.4(CLN5):c.144dup (p.Ser49fs) rs386833970
NM_006493.4(CLN5):c.155_167del (p.His52fs) rs1057517134
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.18del (p.Asp6fs) rs1555273567
NM_006493.4(CLN5):c.191del (p.Pro64fs) rs1555273882
NM_006493.4(CLN5):c.286C>T (p.Arg96Ter) rs386833971
NM_006493.4(CLN5):c.339+5G>C rs202146713
NM_006493.4(CLN5):c.340-1del rs1057516390
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter) rs386833972
NM_006493.4(CLN5):c.380_381insA (p.Gly128fs) rs386833973
NM_006493.4(CLN5):c.418C>T (p.Gln140Ter) rs386833974
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser) rs386833975
NM_006493.4(CLN5):c.438del (p.His148fs) rs1555273992
NM_006493.4(CLN5):c.446T>C (p.Leu149Pro) rs386833976
NM_006493.4(CLN5):c.448C>T (p.Arg150Ter) rs546989392
NM_006493.4(CLN5):c.466C>T (p.Pro156Ser) rs386833977
NM_006493.4(CLN5):c.473G>C (p.Trp158Ser) rs386833978
NM_006493.4(CLN5):c.522dup (p.Trp175fs) rs386833979
NM_006493.4(CLN5):c.524G>A (p.Trp175Ter) rs386833980
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006493.4(CLN5):c.565+1G>A rs1555274014
NM_006493.4(CLN5):c.594_597del (p.Lys197_Trp198insTer)
NM_006493.4(CLN5):c.625T>G (p.Tyr209Asp) rs386833981
NM_006493.4(CLN5):c.665_672dup (p.Trp225fs) rs1555274337
NM_006493.4(CLN5):c.675G>A (p.Trp225Ter) rs1555274338
NM_006493.4(CLN5):c.703_704GT[1] (p.Leu236fs) rs1555274343
NM_006493.4(CLN5):c.713_720del (p.Thr238fs) rs1555274344
NM_006493.4(CLN5):c.73_74delinsG (p.Ser25fs) rs1057516814
NM_006493.4(CLN5):c.772del (p.Arg258fs) rs386833982
NM_006493.4(CLN5):c.775_776AT[1] (p.Phe260fs) rs786204644
NM_006493.4(CLN5):c.793G>T (p.Glu265Ter) rs764495616
NM_006493.4(CLN5):c.808_823del (p.Gly270fs) rs386833983
NM_006493.4(CLN5):c.838_841del (p.Gly280fs) rs1555274365
NM_006493.4(CLN5):c.879C>A (p.Tyr293Ter) rs386833963
NM_006493.4(CLN5):c.906del (p.Glu303fs) rs1555274369
NM_006493.4(CLN5):c.907G>T (p.Glu303Ter) rs121908292
NM_006493.4(CLN5):c.917del (p.Leu305_Leu306insTer) rs1555274373
NM_006493.4(CLN5):c.922_923CT[1] (p.Leu309fs) rs386833964
NM_006493.4(CLN5):c.925_926del (p.Leu309fs) rs386833965
NM_006493.4(CLN5):c.936del (p.Phe312fs) rs386833966
NM_006493.4(CLN5):c.956_959del (p.Lys319fs) rs386833967
NM_006493.4(CLN5):c.958C>T (p.Gln320Ter) rs750935331
NM_006493.4(CLN5):c.990G>T (p.Trp330Cys) rs386833968
NM_006493.4(CLN5):c.995del (p.Leu332fs) rs1555274387

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