ClinVar Miner

List of variants in gene L1CAM reported as pathogenic

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Gene type:
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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.2254G>A (p.Val752Met) rs137852525 0.00001
NM_001278116.2(L1CAM):c.3496C>T (p.Arg1166Ter) rs1418885000 0.00001
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) rs367665974 0.00001
GRCh37/hg19 Xq28(chrX:153126942-153141190)x0
GRCh37/hg19 Xq28(chrX:153126942-153141972)x0
GRCh37/hg19 Xq28(chrX:153126942-153143271)x1
L1CAM, 1.3-KB DUP
NC_000023.10:g.(?_153128098)_(153141311_?)del
NC_000023.10:g.(?_153129318)_(153131294_?)del
NC_000023.10:g.(?_153129338)_(153131274_?)del
NC_000023.10:g.(?_153132791)_(153141311_?)del
NC_000023.10:g.(?_153135069)_(153135421_?)del
NC_000023.10:g.(?_153136492)_(153138172_?)del
NM_001278116.2(L1CAM):c.1028_1032dup (p.Gly345fs) rs1557092418
NM_001278116.2(L1CAM):c.1108G>A (p.Gly370Arg) rs137852524
NM_001278116.2(L1CAM):c.1146C>G (p.Tyr382Ter) rs886041704
NM_001278116.2(L1CAM):c.1210del (p.Cys404fs)
NM_001278116.2(L1CAM):c.1267+1G>A rs1557092247
NM_001278116.2(L1CAM):c.1267C>T (p.Gln423Ter) rs1557092248
NM_001278116.2(L1CAM):c.1268-1G>A rs1603275538
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg) rs137852520
NM_001278116.2(L1CAM):c.1365del (p.Ser457fs)
NM_001278116.2(L1CAM):c.1379G>A (p.Trp460Ter) rs1557092042
NM_001278116.2(L1CAM):c.1408C>T (p.Gln470Ter) rs1064793163
NM_001278116.2(L1CAM):c.1417C>T (p.Arg473Cys) rs886039408
NM_001278116.2(L1CAM):c.1453C>T (p.Arg485Ter) rs886039407
NM_001278116.2(L1CAM):c.1485C>G (p.Tyr495Ter) rs1131691964
NM_001278116.2(L1CAM):c.1528del (p.Ala510fs)
NM_001278116.2(L1CAM):c.1603del (p.Arg534_Val535insTer)
NM_001278116.2(L1CAM):c.1672C>T (p.Arg558Ter) rs1557091773
NM_001278116.2(L1CAM):c.1703+5G>A
NM_001278116.2(L1CAM):c.1704-1G>A rs1557091678
NM_001278116.2(L1CAM):c.1767C>A (p.Tyr589Ter) rs377470679
NM_001278116.2(L1CAM):c.177del (p.Ser60fs) rs886039404
NM_001278116.2(L1CAM):c.1780del (p.Ser594fs) rs1557091629
NM_001278116.2(L1CAM):c.1792G>A (p.Asp598Asn) rs137852519
NM_001278116.2(L1CAM):c.1823del (p.Val608fs) rs1603275195
NM_001278116.2(L1CAM):c.1828+1G>A rs2148496168
NM_001278116.2(L1CAM):c.1939+1G>A rs1064793801
NM_001278116.2(L1CAM):c.1939+5G>A rs879253716
NM_001278116.2(L1CAM):c.1939A>T (p.Lys647Ter) rs863224494
NM_001278116.2(L1CAM):c.1983del (p.Lys661fs) rs1557091377
NM_001278116.2(L1CAM):c.2014C>T (p.Gln672Ter) rs1569544723
NM_001278116.2(L1CAM):c.2092G>A (p.Gly698Arg) rs886039409
NM_001278116.2(L1CAM):c.2209-42_2229del rs1557091079
NM_001278116.2(L1CAM):c.2219G>A (p.Trp740Ter)
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter) rs797045673
NM_001278116.2(L1CAM):c.2296C>T (p.Gln766Ter)
NM_001278116.2(L1CAM):c.2351A>G (p.Tyr784Cys) rs797045674
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter) rs875989884
NM_001278116.2(L1CAM):c.23del (p.Val8fs) rs398123362
NM_001278116.2(L1CAM):c.2421_2422del (p.Gly808fs) rs879253715
NM_001278116.2(L1CAM):c.2431+5G>A rs1557090943
NM_001278116.2(L1CAM):c.2432-19A>C rs879253713
NM_001278116.2(L1CAM):c.2433C>A (p.Tyr811Ter) rs782553641
NM_001278116.2(L1CAM):c.2438dup (p.Ala814fs) rs1131691666
NM_001278116.2(L1CAM):c.2440dup (p.Ala814fs) rs1603274424
NM_001278116.2(L1CAM):c.2539G>T (p.Gly847Ter)
NM_001278116.2(L1CAM):c.2544C>A (p.Tyr848Ter) rs886039410
NM_001278116.2(L1CAM):c.2547+1G>A rs886039411
NM_001278116.2(L1CAM):c.2559G>A (p.Trp853Ter) rs2064704974
NM_001278116.2(L1CAM):c.2593_2594del (p.His865fs) rs1603274308
NM_001278116.2(L1CAM):c.2654T>A (p.Leu885Ter) rs2148494096
NM_001278116.2(L1CAM):c.266C>A (p.Ser89Ter) rs782178366
NM_001278116.2(L1CAM):c.26G>A (p.Trp9Ter) rs1557094409
NM_001278116.2(L1CAM):c.2701C>T (p.Arg901Ter) rs2148494055
NM_001278116.2(L1CAM):c.2813G>A (p.Trp938Ter) rs2148493891
NM_001278116.2(L1CAM):c.2822C>T (p.Pro941Leu) rs2148493879
NM_001278116.2(L1CAM):c.2872+1G>A
NM_001278116.2(L1CAM):c.2872+1G>C rs2148493825
NM_001278116.2(L1CAM):c.2879del (p.Glu960fs) rs398123364
NM_001278116.2(L1CAM):c.2893C>T (p.Gln965Ter)
NM_001278116.2(L1CAM):c.2918_2919del (p.Pro973fs) rs1557090314
NM_001278116.2(L1CAM):c.2920G>T (p.Glu974Ter) rs782712766
NM_001278116.2(L1CAM):c.2974C>T (p.Gln992Ter) rs879253717
NM_001278116.2(L1CAM):c.3046+1G>A rs1557090220
NM_001278116.2(L1CAM):c.3053C>G (p.Ser1018Ter) rs1557090161
NM_001278116.2(L1CAM):c.3071C>G (p.Ser1024Ter) rs1557090143
NM_001278116.2(L1CAM):c.3166+1G>A rs1603273984
NM_001278116.2(L1CAM):c.3166+1G>T rs1603273984
NM_001278116.2(L1CAM):c.3201T>G (p.Tyr1067Ter) rs1569544629
NM_001278116.2(L1CAM):c.3214C>T (p.Gln1072Ter)
NM_001278116.2(L1CAM):c.3234G>A (p.Trp1078Ter) rs2148493243
NM_001278116.2(L1CAM):c.3368del (p.Phe1123fs)
NM_001278116.2(L1CAM):c.3448_3452delinsGGG (p.Lys1150fs) rs2064686873
NM_001278116.2(L1CAM):c.3453_3456del (p.Lys1150_Tyr1151insTer)
NM_001278116.2(L1CAM):c.3458-1G>C rs879253724
NM_001278116.2(L1CAM):c.3489_3490del (p.Glu1164fs) rs879253714
NM_001278116.2(L1CAM):c.3531-12G>A rs111247323
NM_001278116.2(L1CAM):c.3581C>T (p.Ser1194Leu) rs137852522
NM_001278116.2(L1CAM):c.3638del (p.Gly1213fs)
NM_001278116.2(L1CAM):c.3671C>T (p.Ser1224Leu) rs2148491960
NM_001278116.2(L1CAM):c.400+5G>A rs1569544908
NM_001278116.2(L1CAM):c.48del (p.Cys17fs) rs1603277417
NM_001278116.2(L1CAM):c.502del (p.Arg168fs) rs1557092994
NM_001278116.2(L1CAM):c.523+12C>T rs886039406
NM_001278116.2(L1CAM):c.536T>G (p.Ile179Ser) rs137852523
NM_001278116.2(L1CAM):c.550C>T (p.Arg184Trp)
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln) rs137852521
NM_001278116.2(L1CAM):c.565C>T (p.Gln189Ter)
NM_001278116.2(L1CAM):c.604G>A (p.Asp202Asn) rs1603276146
NM_001278116.2(L1CAM):c.616del (p.Asp206fs) rs2148498736
NM_001278116.2(L1CAM):c.630C>A (p.His210Gln) rs28933683
NM_001278116.2(L1CAM):c.644_648dup (p.Arg217fs) rs2148498706
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.749del (p.Ser250fs) rs1603276024
NM_001278116.2(L1CAM):c.78T>A (p.Tyr26Ter)
NM_001278116.2(L1CAM):c.791G>A (p.Cys264Tyr) rs137852518
NM_001278116.2(L1CAM):c.791G>T (p.Cys264Phe) rs137852518
NM_001278116.2(L1CAM):c.806+1G>C rs1064793920
NM_001278116.2(L1CAM):c.807-6G>A rs886039405
NM_001278116.2(L1CAM):c.910G>T (p.Glu304Ter) rs201311640
NM_001278116.2(L1CAM):c.924C>T (p.Gly308=) rs797044787
NM_001278116.2(L1CAM):c.991+1G>A
NM_001278116.2(L1CAM):c.992-2A>G rs878853099
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg) rs1064793162

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