ClinVar Miner

List of variants reported as likely pathogenic for Spastic paraplegia

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ClinVar version:
Total variants: 240
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HGVS dbSNP gnomAD frequency
NM_004722.4(AP4M1):c.1100G>A (p.Arg367Gln) rs139861201 0.00021
NM_032756.4(HPDL):c.859T>C (p.Tyr287His) rs777360560 0.00010
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter) rs200440467 0.00009
NM_001253852.3(AP4B1):c.577G>A (p.Val193Ile) rs376478015 0.00009
NM_004722.4(AP4M1):c.920G>C (p.Gly307Ala) rs542768500 0.00008
NM_015346.4(ZFYVE26):c.3139+1G>A rs137907310 0.00006
NM_032756.4(HPDL):c.1013T>C (p.Leu338Pro) rs145372387 0.00005
NM_001128126.3(AP4S1):c.138+1G>A rs200033849 0.00004
NM_001128126.3(AP4S1):c.43C>T (p.Arg15Ter) rs754944359 0.00004
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter) rs374894037 0.00004
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter) rs529495094 0.00004
NM_004722.4(AP4M1):c.1012C>T (p.Arg338Ter) rs146262009 0.00004
NM_004722.4(AP4M1):c.680G>A (p.Arg227His) rs371712994 0.00004
NM_001253852.3(AP4B1):c.304C>T (p.Arg102Ter) rs777248758 0.00003
NM_004722.4(AP4M1):c.916C>T (p.Arg306Ter) rs369459721 0.00003
NM_032756.4(HPDL):c.3G>C (p.Met1Ile) rs777607274 0.00003
NM_032756.4(HPDL):c.847C>T (p.Pro283Ser) rs751574835 0.00003
NM_001128126.3(AP4S1):c.139-2A>G rs758748011 0.00002
NM_001128126.3(AP4S1):c.295-3C>A rs185246578 0.00002
NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter) rs142209254 0.00002
NM_001253852.3(AP4B1):c.617G>A (p.Arg206Gln) rs149705131 0.00002
NM_007347.5(AP4E1):c.869+1G>A rs868844377 0.00002
NM_015346.4(ZFYVE26):c.274-2A>G rs769329153 0.00002
NM_015346.4(ZFYVE26):c.3139+2T>G rs767164213 0.00002
NM_001128126.3(AP4S1):c.17T>C (p.Leu6Pro) rs1335804396 0.00001
NM_001128126.3(AP4S1):c.294+1G>T rs886041127 0.00001
NM_001253852.3(AP4B1):c.1115-2A>G rs1210851910 0.00001
NM_001253852.3(AP4B1):c.114-2A>G rs879255396 0.00001
NM_001253852.3(AP4B1):c.1216C>T (p.Arg406Ter) rs776976178 0.00001
NM_001253852.3(AP4B1):c.409A>G (p.Arg137Gly) rs1041267828 0.00001
NM_001278116.2(L1CAM):c.925G>A (p.Glu309Lys) rs367665974 0.00001
NM_001478.5(B4GALNT1):c.383+1G>A rs371013292 0.00001
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter) rs1562912305 0.00001
NM_004722.4(AP4M1):c.1137+1G>T rs770705832 0.00001
NM_004722.4(AP4M1):c.577G>A (p.Glu193Lys) rs387906838 0.00001
NM_004722.4(AP4M1):c.802C>T (p.Arg268Ter) rs780030221 0.00001
NM_004722.4(AP4M1):c.955T>C (p.Cys319Arg) rs754498075 0.00001
NM_004984.4(KIF5A):c.802G>A (p.Ala268Thr) rs139015012 0.00001
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu) rs1440541889 0.00001
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681 0.00001
NM_014363.6(SACS):c.8104C>T (p.Leu2702Phe) rs1593126754 0.00001
NM_015346.4(ZFYVE26):c.1017+1G>T rs1224762841 0.00001
NM_015346.4(ZFYVE26):c.3020-2A>G rs1470672632 0.00001
NM_015346.4(ZFYVE26):c.5622-2A>G rs1272228031 0.00001
NM_020944.3(GBA2):c.1582+2T>G rs941656065 0.00001
NM_024306.5(FA2H):c.691T>C (p.Tyr231His) rs878855081 0.00001
NM_032756.4(HPDL):c.149G>A (p.Gly50Asp) rs1391712320 0.00001
NM_032756.4(HPDL):c.503G>A (p.Cys168Tyr) rs1186696459 0.00001
NM_032756.4(HPDL):c.788C>T (p.Thr263Met) rs116004018 0.00001
NM_032756.4(HPDL):c.797T>C (p.Ile266Thr) rs769373772 0.00001
NM_032756.4(HPDL):c.835C>T (p.Gln279Ter) rs774014588 0.00001
NM_183075.3(CYP2U1):c.343G>A (p.Gly115Ser) rs766889023 0.00001
NC_000004.11:g.(?_108853015)_(108855427_?)del
NC_000013.11:g.(?_23353775)_(23358491_?)del
NC_000014.8:g.(?_68251766)_(68260966_?)del
NM_001128126.3(AP4S1):c.124C>T (p.Arg42Ter) rs387906970
NM_001128126.3(AP4S1):c.226-2A>G rs2139067616
NM_001128126.3(AP4S1):c.229G>T (p.Glu77Ter) rs568176223
NM_001128126.3(AP4S1):c.239_240insG (p.Ile80fs) rs2139067696
NM_001128126.3(AP4S1):c.2T>C (p.Met1Thr) rs755820725
NM_001128126.3(AP4S1):c.49dup (p.Ser17fs) rs2139569112
NM_001244008.2(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_001253852.3(AP4B1):c.114-2A>C rs879255396
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs) rs587779388
NM_001253852.3(AP4B1):c.1181_1182del (p.Gln394fs) rs2101015147
NM_001253852.3(AP4B1):c.1282G>T (p.Glu428Ter) rs1060499756
NM_001253852.3(AP4B1):c.1328T>C (p.Leu443Pro) rs746890435
NM_001253852.3(AP4B1):c.1355del (p.Asn452fs) rs2100998416
NM_001253852.3(AP4B1):c.1496del (p.Leu499fs) rs2100997427
NM_001253852.3(AP4B1):c.1544del (p.Gly515fs) rs1667419336
NM_001253852.3(AP4B1):c.1608_1609insCA (p.Lys537fs) rs2100995157
NM_001253852.3(AP4B1):c.1655del (p.Pro552fs) rs2100994885
NM_001253852.3(AP4B1):c.1793-1G>A rs2100992189
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs) rs797045244
NM_001253852.3(AP4B1):c.311del (p.Leu104fs) rs2101043631
NM_001253852.3(AP4B1):c.313del (p.Ala105fs) rs587783179
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer) rs1553259463
NM_001253852.3(AP4B1):c.487_488insTAT (p.Glu163delinsValTer) rs2101035173
NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs) rs879255397
NM_001253852.3(AP4B1):c.664del (p.Leu222fs) rs1571563769
NM_001253852.3(AP4B1):c.955T>C (p.Phe319Leu) rs1060499771
NM_001253852.3(AP4B1):c.991C>T (p.Gln331Ter) rs2101024858
NM_001278116.2(L1CAM):c.1380-2A>T
NM_001278116.2(L1CAM):c.1702_1703+14del rs1603275315
NM_001278116.2(L1CAM):c.1703+1G>A rs2148496455
NM_001278116.2(L1CAM):c.1940-1G>A rs2148495739
NM_001278116.2(L1CAM):c.2137+1G>A rs1557091278
NM_001278116.2(L1CAM):c.2547+2T>G
NM_001278116.2(L1CAM):c.3046+1G>C rs1557090220
NM_001278116.2(L1CAM):c.3046+1G>T
NM_001278116.2(L1CAM):c.3167-2A>G
NM_001278116.2(L1CAM):c.401-1G>A rs2064766332
NM_001278116.2(L1CAM):c.473G>A (p.Cys158Tyr) rs1603276234
NM_001278116.2(L1CAM):c.476_524-42delinsGAA
NM_001278116.2(L1CAM):c.719C>T (p.Pro240Leu) rs137852526
NM_001278116.2(L1CAM):c.806+5G>A rs878853979
NM_001278116.2(L1CAM):c.92-1G>A
NM_001278116.2(L1CAM):c.998C>G (p.Pro333Arg) rs1064793162
NM_001371279.1(REEP1):c.33-2A>G rs1574077569
NM_001478.5(B4GALNT1):c.532-2A>G rs1885117995
NM_001478.5(B4GALNT1):c.712+1G>A
NM_001478.5(B4GALNT1):c.811+38_903del
NM_004187.5(KDM5C):c.1243-2A>G rs1569274606
NM_004187.5(KDM5C):c.150+1G>A
NM_004187.5(KDM5C):c.1747-2A>T
NM_004187.5(KDM5C):c.1866+1G>A rs2146867849
NM_004187.5(KDM5C):c.1A>G (p.Met1Val) rs1569285562
NM_004187.5(KDM5C):c.2248C>T (p.Arg750Trp) rs2146851322
NM_004187.5(KDM5C):c.2981+1G>A
NM_004187.5(KDM5C):c.781+1G>A
NM_004722.4(AP4M1):c.1026-1G>T rs2116670931
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter) rs886041126
NM_004722.4(AP4M1):c.194_195del (p.Tyr65fs) rs777377185
NM_004722.4(AP4M1):c.218dup (p.Asn73fs) rs1321353475
NM_004722.4(AP4M1):c.330C>G (p.Tyr110Ter) rs752598529
NM_004722.4(AP4M1):c.521dup (p.Leu175fs) rs2116638409
NM_004722.4(AP4M1):c.544-8_544-3del rs1064794383
NM_004722.4(AP4M1):c.694del (p.Glu232fs) rs1584514057
NM_004722.4(AP4M1):c.694dup (p.Glu232fs) rs1584514057
NM_004722.4(AP4M1):c.851A>C (p.Tyr284Ser) rs1554380391
NM_004722.4(AP4M1):c.90del (p.Glu31fs) rs2116616864
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249
NM_004722.4(AP4M1):c.956G>A (p.Cys319Tyr) rs1057521784
NM_004722.4(AP4M1):c.974+1G>T rs1344550427
NM_004820.5(CYP7B1):c.1057+1G>A
NM_004820.5(CYP7B1):c.1202A>G (p.His401Arg) rs1467815062
NM_004820.5(CYP7B1):c.122+1G>C
NM_004820.5(CYP7B1):c.122+1G>T
NM_004820.5(CYP7B1):c.1460dup (p.Leu487fs) rs776075679
NM_004820.5(CYP7B1):c.260-1G>A rs1385678413
NM_004820.5(CYP7B1):c.788T>G (p.Val263Gly)
NM_004984.4(KIF5A):c.1905+2_1905+3delinsGC
NM_004984.4(KIF5A):c.2756-2A>G
NM_004984.4(KIF5A):c.3019A>G (p.Arg1007Gly) rs1555179087
NM_004984.4(KIF5A):c.3020+1G>T rs1555179091
NM_004984.4(KIF5A):c.3020G>A (p.Arg1007Lys) rs1060502523
NM_004984.4(KIF5A):c.466G>A (p.Val156Met)
NM_004984.4(KIF5A):c.611G>T (p.Arg204Leu)
NM_004984.4(KIF5A):c.839G>C (p.Arg280Pro)
NM_004984.4(KIF5A):c.969-1G>C rs1882179247
NM_005619.5(RTN2):c.1380+1G>T rs1968087179
NM_006517.5(SLC16A2):c.1270G>A (p.Asp424Asn) rs2147871878
NM_006517.5(SLC16A2):c.576-1G>A rs886042238
NM_007175.8(ERLIN2):c.187C>A (p.Gln63Lys) rs1802811311
NM_007175.8(ERLIN2):c.207T>G (p.Asp69Glu)
NM_007175.8(ERLIN2):c.237-2A>G rs751227210
NM_007175.8(ERLIN2):c.532G>A (p.Ala178Thr)
NM_007347.5(AP4E1):c.1358_1359dup (p.Val454fs) rs2140861869
NM_007347.5(AP4E1):c.1833del (p.Ser612fs) rs2140878481
NM_007347.5(AP4E1):c.3277C>T (p.Gln1093Ter) rs773929706
NM_007347.5(AP4E1):c.3313C>T (p.Arg1105Ter) rs1313275799
NM_007347.5(AP4E1):c.420+1G>T
NM_007347.5(AP4E1):c.542+5_542+8del rs2141147450
NM_007347.5(AP4E1):c.652_653del (p.Asp218fs) rs2063801225
NM_007347.5(AP4E1):c.881_891del (p.Leu294fs) rs2141164712
NM_007347.5(AP4E1):c.944-1G>C rs1555456727
NM_014231.5(VAMP1):c.340del (p.Ile114fs) rs746220436
NM_014363.6(SACS):c.11166_11167del (p.Ser3722fs) rs1883566609
NM_014363.6(SACS):c.11467C>A (p.Pro3823Thr) rs1883537654
NM_014363.6(SACS):c.11907_11930delinsA (p.Arg3970fs) rs1593121507
NM_014363.6(SACS):c.13009C>G (p.His4337Asp) rs1555249362
NM_014363.6(SACS):c.13283dup (p.Tyr4428Ter) rs1057517123
NM_014363.6(SACS):c.13352T>C (p.Leu4451Pro)
NM_014363.6(SACS):c.13391A>T (p.Asp4464Val) rs1883393913
NM_014363.6(SACS):c.171+1_171+18del
NM_014363.6(SACS):c.21-2A>G
NM_014363.6(SACS):c.458-2A>C rs2137743517
NM_014363.6(SACS):c.4744G>C (p.Asp1582His)
NM_014363.6(SACS):c.4934G>A (p.Arg1645Gln)
NM_014363.6(SACS):c.604+1G>A rs1555254734
NM_014363.6(SACS):c.6650C>A (p.Pro2217Gln) rs1868700605
NM_014363.6(SACS):c.7918T>C (p.Ser2640Pro) rs2137596408
NM_014363.6(SACS):c.9266C>T (p.Pro3089Leu) rs1593125290
NM_014946.4(SPAST):c.1272G>C (p.Arg424Ser)
NM_015346.4(ZFYVE26):c.1436-1G>A rs545219731
NM_015346.4(ZFYVE26):c.1639+1G>T
NM_015346.4(ZFYVE26):c.2332+1G>C
NM_015346.4(ZFYVE26):c.2401+2T>C
NM_015346.4(ZFYVE26):c.2553+1G>T
NM_015346.4(ZFYVE26):c.2554-1G>C rs760559263
NM_015346.4(ZFYVE26):c.2554-2A>G rs1186788102
NM_015346.4(ZFYVE26):c.2753_2755+5del
NM_015346.4(ZFYVE26):c.2756-1G>A rs2039758874
NM_015346.4(ZFYVE26):c.3139+1G>T rs137907310
NM_015346.4(ZFYVE26):c.3523+2T>C
NM_015346.4(ZFYVE26):c.3524-1G>C rs2140225441
NM_015346.4(ZFYVE26):c.3524-2A>G rs1555397331
NM_015346.4(ZFYVE26):c.4372+1_4372+3del rs1555396965
NM_015346.4(ZFYVE26):c.4674+2T>C
NM_015346.4(ZFYVE26):c.4675-2A>G
NM_015346.4(ZFYVE26):c.4797+2T>G rs2140215645
NM_015346.4(ZFYVE26):c.4798-1G>A rs1555396303
NM_015346.4(ZFYVE26):c.5222-1G>A rs2039307447
NM_015346.4(ZFYVE26):c.5485-1del rs878855013
NM_015346.4(ZFYVE26):c.5654-1G>A
NM_015346.4(ZFYVE26):c.5790+1G>A rs1340106074
NM_015346.4(ZFYVE26):c.5791-2A>G
NM_015346.4(ZFYVE26):c.6012-1G>A
NM_015346.4(ZFYVE26):c.6159+1G>A rs896655703
NM_015346.4(ZFYVE26):c.6160-2A>C
NM_015346.4(ZFYVE26):c.6369+1G>A rs1197046699
NM_015346.4(ZFYVE26):c.6786+1G>T
NM_015346.4(ZFYVE26):c.6987-1G>A rs1555393393
NM_015346.4(ZFYVE26):c.7188+1G>A rs1555393338
NM_015346.4(ZFYVE26):c.7188+1G>T rs1555393338
NM_015346.4(ZFYVE26):c.886+1G>T rs752618765
NM_015346.4(ZFYVE26):c.887-1G>C
NM_015915.5(ATL1):c.716G>A (p.Arg239His) rs1241621325
NM_020435.4(GJC2):c.141C>G (p.Tyr47Ter) rs1553262438
NM_020435.4(GJC2):c.85_86dup (p.Val30fs) rs1558119445
NM_020944.3(GBA2):c.1129+1G>C rs2131972800
NM_020944.3(GBA2):c.2636G>A (p.Arg879Gln) rs1588001500
NM_020944.3(GBA2):c.515G>T (p.Arg172Leu) rs200268523
NM_024306.5(FA2H):c.340_363+8del rs1597556143
NM_024306.5(FA2H):c.506+1G>C rs753097023
NM_024496.4(IRF2BPL):c.346C>T (p.Gln116Ter)
NM_025137.4(SPG11):c.6404del (p.Ile2135fs) rs2140923130
NM_032756.4(HPDL):c.1072T>G (p.Trp358Gly) rs2149082406
NM_032756.4(HPDL):c.110G>C (p.Arg37Pro) rs745594303
NM_032756.4(HPDL):c.232G>A (p.Ala78Thr) rs1360472871
NM_032756.4(HPDL):c.256del (p.Ala86fs) rs753787033
NM_032756.4(HPDL):c.27C>A (p.Cys9Ter) rs1373645311
NM_032756.4(HPDL):c.342_345dup (p.Ala116fs) rs1644248738
NM_032756.4(HPDL):c.418G>A (p.Gly140Arg) rs758727749
NM_032756.4(HPDL):c.493A>C (p.Thr165Pro) rs1446895238
NM_032756.4(HPDL):c.518C>A (p.Ser173Tyr) rs2149081821
NM_032756.4(HPDL):c.523_529del (p.Thr175fs) rs2149081832
NM_032756.4(HPDL):c.529_530del (p.Leu177fs) rs1644253428
NM_032756.4(HPDL):c.569C>T (p.Pro190Leu) rs368625962
NM_032756.4(HPDL):c.650T>C (p.Leu217Pro) rs1297494568
NM_032756.4(HPDL):c.679del (p.Thr227fs) rs2149081995
NM_032756.4(HPDL):c.692C>G (p.Ala231Gly) rs756300449
NM_032756.4(HPDL):c.769_771delinsTC (p.Gln257fs) rs2149082096
NM_032756.4(HPDL):c.788C>G (p.Thr263Arg) rs116004018
NM_032756.4(HPDL):c.816_817del (p.Val273fs) rs2149082140
NM_032756.4(HPDL):c.995del (p.Thr332fs) rs1167901073
NM_183075.3(CYP2U1):c.1463G>A (p.Arg488Gln) rs762873672
NM_183075.3(CYP2U1):c.946G>C (p.Asp316His) rs766970458
NM_183075.3(CYP2U1):c.947A>T (p.Asp316Val) rs397514513
Single allele

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