ClinVar Miner

List of variants in gene L1CAM reported as uncertain significance for Spastic paraplegia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 106
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001278116.2(L1CAM):c.992-3C>T rs201734187 0.00006
NM_001278116.2(L1CAM):c.2869C>A (p.Pro957Thr) rs1307427270 0.00002
NM_001278116.2(L1CAM):c.1225C>T (p.Arg409Trp) rs782132624 0.00001
NM_001278116.2(L1CAM):c.1358C>T (p.Ala453Val) rs1557092050 0.00001
NM_001278116.2(L1CAM):c.1894C>G (p.Arg632Gly) rs782367123 0.00001
NM_001278116.2(L1CAM):c.2758C>T (p.His920Tyr) rs2064701743 0.00001
NM_001278116.2(L1CAM):c.3181G>T (p.Ala1061Ser) rs1232974377 0.00001
NM_001278116.2(L1CAM):c.3770A>G (p.Glu1257Gly) rs1557089225 0.00001
NM_001278116.2(L1CAM):c.1040G>A (p.Gly347Glu) rs2064751491
NM_001278116.2(L1CAM):c.1057G>A (p.Asp353Asn)
NM_001278116.2(L1CAM):c.1064A>G (p.Gln355Arg)
NM_001278116.2(L1CAM):c.1100G>A (p.Arg367Lys) rs2064751060
NM_001278116.2(L1CAM):c.1123+3G>A
NM_001278116.2(L1CAM):c.1143G>C (p.Lys381Asn) rs1185735801
NM_001278116.2(L1CAM):c.1153C>G (p.Gln385Glu)
NM_001278116.2(L1CAM):c.1224C>G (p.Asn408Lys) rs994675918
NM_001278116.2(L1CAM):c.1268A>G (p.Gln423Arg)
NM_001278116.2(L1CAM):c.1294G>A (p.Asp432Asn)
NM_001278116.2(L1CAM):c.130C>T (p.Arg44Cys) rs370782270
NM_001278116.2(L1CAM):c.132_133delinsAA (p.Leu45Met)
NM_001278116.2(L1CAM):c.1386C>A (p.Asp462Glu)
NM_001278116.2(L1CAM):c.1399A>G (p.Thr467Ala)
NM_001278116.2(L1CAM):c.1546G>A (p.Asp516Asn) rs782367931
NM_001278116.2(L1CAM):c.1552A>G (p.Thr518Ala)
NM_001278116.2(L1CAM):c.1641G>C (p.Leu547Phe)
NM_001278116.2(L1CAM):c.1678C>T (p.Leu560Phe) rs1414810082
NM_001278116.2(L1CAM):c.1691_1703+3dup
NM_001278116.2(L1CAM):c.16C>T (p.Arg6Trp)
NM_001278116.2(L1CAM):c.176C>T (p.Ala59Val) rs2148500384
NM_001278116.2(L1CAM):c.1786G>C (p.Glu596Gln) rs137940405
NM_001278116.2(L1CAM):c.179G>T (p.Ser60Ile)
NM_001278116.2(L1CAM):c.1855G>T (p.Val619Leu)
NM_001278116.2(L1CAM):c.1913C>A (p.Ala638Glu) rs2148495969
NM_001278116.2(L1CAM):c.1939+5G>A rs879253716
NM_001278116.2(L1CAM):c.2012A>G (p.Asn671Ser)
NM_001278116.2(L1CAM):c.2018C>T (p.Thr673Ile)
NM_001278116.2(L1CAM):c.203G>T (p.Arg68Leu) rs2064778846
NM_001278116.2(L1CAM):c.2042C>T (p.Pro681Leu) rs1557091354
NM_001278116.2(L1CAM):c.2078A>T (p.Asn693Ile)
NM_001278116.2(L1CAM):c.2099C>A (p.Pro700His)
NM_001278116.2(L1CAM):c.2117C>T (p.Thr706Ile)
NM_001278116.2(L1CAM):c.2195T>A (p.Val732Asp) rs1569544718
NM_001278116.2(L1CAM):c.2236C>T (p.Pro746Ser)
NM_001278116.2(L1CAM):c.2258_2263dup (p.Gln753_Trp754dup) rs2064718045
NM_001278116.2(L1CAM):c.2260T>C (p.Trp754Arg)
NM_001278116.2(L1CAM):c.2291A>G (p.Gln764Arg)
NM_001278116.2(L1CAM):c.22G>C (p.Val8Leu)
NM_001278116.2(L1CAM):c.2300T>C (p.Ile767Thr) rs1569544704
NM_001278116.2(L1CAM):c.2329A>C (p.Asn777His)
NM_001278116.2(L1CAM):c.2381A>G (p.Gln794Arg)
NM_001278116.2(L1CAM):c.2389G>A (p.Gly797Arg)
NM_001278116.2(L1CAM):c.2402A>G (p.Gln801Arg)
NM_001278116.2(L1CAM):c.2419T>C (p.Ser807Pro)
NM_001278116.2(L1CAM):c.247G>A (p.Gly83Ser)
NM_001278116.2(L1CAM):c.2504C>T (p.Pro835Leu)
NM_001278116.2(L1CAM):c.250G>T (p.Val84Leu)
NM_001278116.2(L1CAM):c.2541A>G (p.Gly847=) rs2148494333
NM_001278116.2(L1CAM):c.2562G>T (p.Arg854Ser) rs1032992615
NM_001278116.2(L1CAM):c.2572C>A (p.Gln858Lys)
NM_001278116.2(L1CAM):c.2581_2589del (p.His861_Lys863del)
NM_001278116.2(L1CAM):c.2584A>G (p.Ser862Gly) rs2148494141
NM_001278116.2(L1CAM):c.2593C>G (p.His865Asp)
NM_001278116.2(L1CAM):c.2597T>A (p.Ile866Asn)
NM_001278116.2(L1CAM):c.2674C>G (p.His892Asp) rs2148494073
NM_001278116.2(L1CAM):c.2720G>A (p.Ser907Asn)
NM_001278116.2(L1CAM):c.2747G>A (p.Gly916Glu)
NM_001278116.2(L1CAM):c.2837G>A (p.Gly946Asp)
NM_001278116.2(L1CAM):c.2848G>A (p.Gly950Ser) rs1569544662
NM_001278116.2(L1CAM):c.2852A>G (p.Tyr951Cys)
NM_001278116.2(L1CAM):c.2872+3G>A
NM_001278116.2(L1CAM):c.289A>G (p.Ile97Val)
NM_001278116.2(L1CAM):c.2996A>C (p.Glu999Ala)
NM_001278116.2(L1CAM):c.2999G>A (p.Gly1000Asp) rs2148493606
NM_001278116.2(L1CAM):c.3014T>C (p.Ile1005Thr) rs398123365
NM_001278116.2(L1CAM):c.3046+5G>C
NM_001278116.2(L1CAM):c.3095G>A (p.Ser1032Asn) rs2148493445
NM_001278116.2(L1CAM):c.3100G>A (p.Val1034Ile)
NM_001278116.2(L1CAM):c.31CTC[2] (p.Leu13del) rs2064809071
NM_001278116.2(L1CAM):c.3235G>A (p.Asp1079Asn)
NM_001278116.2(L1CAM):c.3257A>C (p.Tyr1086Ser) rs2148493224
NM_001278116.2(L1CAM):c.3316G>A (p.Gly1106Ser)
NM_001278116.2(L1CAM):c.3370A>T (p.Ile1124Phe)
NM_001278116.2(L1CAM):c.3457+5C>T
NM_001278116.2(L1CAM):c.3520G>A (p.Gly1174Ser)
NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)
NM_001278116.2(L1CAM):c.3626C>A (p.Ala1209Asp)
NM_001278116.2(L1CAM):c.3721A>G (p.Asn1241Asp)
NM_001278116.2(L1CAM):c.3734G>A (p.Gly1245Glu) rs2148491886
NM_001278116.2(L1CAM):c.3752A>C (p.Asn1251Thr)
NM_001278116.2(L1CAM):c.3773A>T (p.Ter1258Leu)
NM_001278116.2(L1CAM):c.400+4C>T
NM_001278116.2(L1CAM):c.452G>C (p.Gly151Ala) rs1064796291
NM_001278116.2(L1CAM):c.454G>A (p.Glu152Lys)
NM_001278116.2(L1CAM):c.484C>G (p.Pro162Ala)
NM_001278116.2(L1CAM):c.487A>G (p.Ser163Gly) rs1603276226
NM_001278116.2(L1CAM):c.496C>G (p.Pro166Ala)
NM_001278116.2(L1CAM):c.64A>G (p.Ile22Val)
NM_001278116.2(L1CAM):c.66C>G (p.Ile22Met) rs1557094388
NM_001278116.2(L1CAM):c.751C>G (p.His251Asp)
NM_001278116.2(L1CAM):c.806+6_806+54delinsAGGAGAGCGCTCAGGAAGCAGAAAGCTCAGGGAGGATGGAATGCGAAGGGAAAACCCCAGGGAAAAGGCGACACAGATCAAGA
NM_001278116.2(L1CAM):c.806T>C (p.Phe269Ser)
NM_001278116.2(L1CAM):c.807-4G>T
NM_001278116.2(L1CAM):c.809C>T (p.Pro270Leu) rs2148498057
NM_001278116.2(L1CAM):c.863T>C (p.Val288Ala)
NM_001278116.2(L1CAM):c.919_920delinsTT (p.Asp307Phe)
NM_001278116.2(L1CAM):c.958A>G (p.Ser320Gly)

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.