ClinVar Miner

List of variants reported as uncertain significance for Spastic paraplegia, autosomal dominant by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 216
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HGVS dbSNP
NM_001142275.1(NIPA1):c.-48+390G>A rs886051009
NM_001164731.2(REEP1):c.*1081_*1082CA[2] rs886056408
NM_001164731.2(REEP1):c.*1224A>G rs886056407
NM_001164731.2(REEP1):c.*1580T>C rs886056406
NM_001164731.2(REEP1):c.*1914A>T rs886056405
NM_001164731.2(REEP1):c.*2053del rs886056404
NM_001164731.2(REEP1):c.*2075_*2077del rs886056403
NM_001164731.2(REEP1):c.*2076_*2077del rs1553455537
NM_001164731.2(REEP1):c.*2077_*2078insA rs886056400
NM_001164731.2(REEP1):c.*2077del rs886056401
NM_001164731.2(REEP1):c.*2083del rs886056399
NM_001164731.2(REEP1):c.*2111_*2112insT rs886056398
NM_001164731.2(REEP1):c.*2250C>A rs558708657
NM_001164731.2(REEP1):c.*2261C>A rs772358643
NM_001164731.2(REEP1):c.*2371C>T rs533698310
NM_001164731.2(REEP1):c.*2441C>T rs551489805
NM_001164731.2(REEP1):c.*2619A>G rs886056397
NM_001164731.2(REEP1):c.*2794A>C rs886056396
NM_001164731.2(REEP1):c.*450_*451CA[1] rs886056409
NM_001164731.2(REEP1):c.336+15G>C rs755153738
NM_001164731.2(REEP1):c.68C>T (p.Thr23Ile) rs886056410
NM_002156.4(HSPD1):c.-128C>G rs886055390
NM_002156.5(HSPD1):c.*18dup rs777031722
NM_002156.5(HSPD1):c.*313A>G rs563815280
NM_002156.5(HSPD1):c.*384T>A rs544314251
NM_002156.5(HSPD1):c.*454T>G rs886055384
NM_002156.5(HSPD1):c.*56G>A rs886055385
NM_002156.5(HSPD1):c.-3+15C>A rs59701865
NM_002156.5(HSPD1):c.1207G>A (p.Val403Met) rs886055386
NM_002156.5(HSPD1):c.428-15A>G rs769110777
NM_002156.5(HSPD1):c.429T>C (p.Gly143=) rs886055389
NM_002156.5(HSPD1):c.607-4A>G rs886055388
NM_002156.5(HSPD1):c.859G>A (p.Val287Ile) rs886055387
NM_002156.5(HSPD1):c.869+12T>C rs781462822
NM_004733.4(SLC33A1):c.*1200T>C rs886058102
NM_004733.4(SLC33A1):c.*1230A>G rs886058101
NM_004733.4(SLC33A1):c.*149C>T rs886058107
NM_004733.4(SLC33A1):c.*1529C>T rs886058100
NM_004733.4(SLC33A1):c.*509G>T rs886058106
NM_004733.4(SLC33A1):c.*582_*583del rs762573505
NM_004733.4(SLC33A1):c.*595A>C rs886058105
NM_004733.4(SLC33A1):c.*746T>G rs774751936
NM_004733.4(SLC33A1):c.*755C>T rs189496085
NM_004733.4(SLC33A1):c.*869G>A rs886058104
NM_004733.4(SLC33A1):c.*893del rs886058103
NM_004733.4(SLC33A1):c.-27C>T rs777838988
NM_004733.4(SLC33A1):c.-281C>T rs560777515
NM_004733.4(SLC33A1):c.1068G>A (p.Gln356=) rs886058108
NM_004733.4(SLC33A1):c.1149-4A>G rs773106675
NM_004733.4(SLC33A1):c.1267-4G>A rs779467886
NM_004733.4(SLC33A1):c.131G>T (p.Gly44Val) rs780400607
NM_004733.4(SLC33A1):c.613T>C (p.Leu205=) rs886058110
NM_004733.4(SLC33A1):c.904T>C (p.Phe302Leu) rs886058109
NM_004984.4(KIF5A):c.*170T>A rs761486570
NM_004984.4(KIF5A):c.*317C>T rs886049701
NM_004984.4(KIF5A):c.*326G>C rs150199729
NM_004984.4(KIF5A):c.*326G>T rs150199729
NM_004984.4(KIF5A):c.*422_*425GCAC[4] rs150797197
NM_004984.4(KIF5A):c.*435C>T rs886049704
NM_004984.4(KIF5A):c.*492A>T rs886049705
NM_004984.4(KIF5A):c.-193G>A rs886049699
NM_004984.4(KIF5A):c.1079T>C (p.Ile360Thr) rs886049700
NM_004984.4(KIF5A):c.129+9C>T rs372131378
NM_004984.4(KIF5A):c.1389C>T (p.Asn463=) rs112982686
NM_004984.4(KIF5A):c.1866C>T (p.Thr622=) rs144382702
NM_004984.4(KIF5A):c.1932G>A (p.Thr644=) rs370644634
NM_004984.4(KIF5A):c.2271C>T (p.His757=) rs374554951
NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys) rs140281678
NM_004984.4(KIF5A):c.2412C>T (p.Asp804=) rs145062338
NM_004984.4(KIF5A):c.2478A>C (p.Gln826His) rs777903778
NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=) rs781143696
NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr) rs746095110
NM_004984.4(KIF5A):c.292-14C>A rs778921032
NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile) rs139801016
NM_004984.4(KIF5A):c.2994A>G (p.Gly998=) rs750415265
NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys) rs756348570
NM_004984.4(KIF5A):c.396+13C>T rs377008480
NM_004984.4(KIF5A):c.471C>T (p.His157=) rs143178113
NM_004984.4(KIF5A):c.566C>T (p.Ser189Leu) rs140144799
NM_004984.4(KIF5A):c.968+12G>C rs536186088
NM_005619.5(RTN2):c.*148G>A rs886054503
NM_005619.5(RTN2):c.*217G>A rs886054502
NM_005619.5(RTN2):c.*270C>T rs527298509
NM_005619.5(RTN2):c.*300G>C rs532093070
NM_005619.5(RTN2):c.*344C>T rs375889892
NM_005619.5(RTN2):c.*51T>C rs569611116
NM_005619.5(RTN2):c.986G>A (p.Ser329Asn) rs145653668
NM_014846.3(WASHC5):c.-124-11dupT rs886062656
NM_014846.3(WASHC5):c.3423+12_3423+15delATAG rs774994568
NM_014846.4(WASHC5):c.*124A>C rs886062650
NM_014846.4(WASHC5):c.-167C>T rs886062657
NM_014846.4(WASHC5):c.-20A>G rs762683769
NM_014846.4(WASHC5):c.-219G>C rs886062658
NM_014846.4(WASHC5):c.1340C>T (p.Ser447Leu) rs886062654
NM_014846.4(WASHC5):c.1345C>A (p.Arg449=) rs886062653
NM_014846.4(WASHC5):c.2052T>G (p.Thr684=) rs886062652
NM_014846.4(WASHC5):c.2850+4T>C rs770743674
NM_014846.4(WASHC5):c.2954+13G>T rs886062651
NM_014846.4(WASHC5):c.3200C>T (p.Pro1067Leu) rs149383757
NM_014846.4(WASHC5):c.3438T>C (p.His1146=) rs764539889
NM_014846.4(WASHC5):c.405A>G (p.Gly135=) rs529518868
NM_014846.4(WASHC5):c.657A>G (p.Glu219=) rs886062655
NM_014946.3(SPAST):c.*1156T>C rs546193636
NM_014946.3(SPAST):c.*11T>C rs753913367
NM_014946.3(SPAST):c.*1231C>T rs886055974
NM_014946.3(SPAST):c.*1476A>G rs760307887
NM_014946.3(SPAST):c.*1543_*1544insT rs751815134
NM_014946.3(SPAST):c.*1544dupG rs542086083
NM_014946.3(SPAST):c.*157A>C rs886055963
NM_014946.3(SPAST):c.*1777G>A rs886055976
NM_014946.3(SPAST):c.*1783C>T rs886055977
NM_014946.3(SPAST):c.*1829C>T rs886055978
NM_014946.3(SPAST):c.*1858T>G rs573241334
NM_014946.3(SPAST):c.*2196A>T rs886055979
NM_014946.3(SPAST):c.*2322T>G rs530517245
NM_014946.3(SPAST):c.*2504A>G rs886055980
NM_014946.3(SPAST):c.*2658A>T rs886055981
NM_014946.3(SPAST):c.*2779G>A rs886055982
NM_014946.3(SPAST):c.*2898C>T rs886055983
NM_014946.3(SPAST):c.*2904C>T rs534543205
NM_014946.3(SPAST):c.*2987G>C rs770713063
NM_014946.3(SPAST):c.*2999dupT rs886055984
NM_014946.3(SPAST):c.*380_*383delTTGT rs756347073
NM_014946.3(SPAST):c.*382G>A rs570596299
NM_014946.3(SPAST):c.*478G>T rs886055966
NM_014946.3(SPAST):c.*494C>T rs886055967
NM_014946.3(SPAST):c.*521A>G rs886055968
NM_014946.3(SPAST):c.*533T>G rs886055969
NM_014946.3(SPAST):c.*815_*828delCTTCCTGATGGAATinsAAC rs886055971
NM_014946.3(SPAST):c.*892T>G rs886055972
NM_014946.3(SPAST):c.-104_-102delACG rs886055960
NM_014946.3(SPAST):c.-168G>A rs886055959
NM_014946.3(SPAST):c.-176C>T rs886055958
NM_014946.3(SPAST):c.-220G>T rs886055957
NM_014946.3(SPAST):c.-41C>T rs374327295
NM_014946.3(SPAST):c.-7G>A rs376165443
NM_014946.3(SPAST):c.1005-5C>A rs377123251
NM_014946.3(SPAST):c.1744T>C (p.Leu582=) rs886055962
NM_014946.3(SPAST):c.55C>T (p.Pro19Ser) rs372349942
NM_014946.3(SPAST):c.644G>A (p.Ser215Asn) rs774722817
NM_015915.4(ATL1):c.*304C>T rs886050533
NM_015915.4(ATL1):c.*528A>C rs886050534
NM_015915.4(ATL1):c.*653T>C rs886050535
NM_015915.4(ATL1):c.-155C>G rs886050530
NM_015915.4(ATL1):c.1152A>G (p.Pro384=) rs377127492
NM_015915.4(ATL1):c.1173C>T (p.His391=) rs149340140
NM_015915.4(ATL1):c.1567-14T>C rs886050532
NM_015915.4(ATL1):c.1623T>G (p.Ala541=) rs777479928
NM_015915.4(ATL1):c.523-13T>C rs778508132
NM_015915.4(ATL1):c.622C>T (p.Pro208Ser) rs147839037
NM_015915.4(ATL1):c.630+6C>A rs886050531
NM_015915.4(ATL1):c.756C>T (p.Asn252=) rs771031586
NM_015915.4(ATL1):c.969G>C (p.Arg323=) rs753145983
NM_144588.7(ZFYVE27):c.*1074C>G rs543023183
NM_144588.7(ZFYVE27):c.*1148C>T rs371748674
NM_144588.7(ZFYVE27):c.*1195C>T rs540494473
NM_144588.7(ZFYVE27):c.*1283C>T rs886047531
NM_144588.7(ZFYVE27):c.*1340G>C rs886047532
NM_144588.7(ZFYVE27):c.*1411A>G rs567464767
NM_144588.7(ZFYVE27):c.*1450G>A rs886047533
NM_144588.7(ZFYVE27):c.*1472C>T rs528359630
NM_144588.7(ZFYVE27):c.*223G>C rs886047527
NM_144588.7(ZFYVE27):c.*678A>C rs886047528
NM_144588.7(ZFYVE27):c.*945G>A rs886047529
NM_144588.7(ZFYVE27):c.1167C>A (p.Ala389=) rs768113258
NM_144588.7(ZFYVE27):c.386G>A (p.Ser129Asn) rs763464659
NM_144588.7(ZFYVE27):c.424C>T (p.Arg142Cys) rs145746084
NM_144588.7(ZFYVE27):c.522G>A (p.Leu174=) rs143515214
NM_144588.7(ZFYVE27):c.797C>T (p.Pro266Leu) rs886047525
NM_144588.7(ZFYVE27):c.914C>T (p.Ala305Val) rs886047526
NM_144599.5(NIPA1):c.*1115C>T rs759987319
NM_144599.5(NIPA1):c.*1190_*1191del rs764504513
NM_144599.5(NIPA1):c.*1330G>A rs190362420
NM_144599.5(NIPA1):c.*1750C>G rs562165057
NM_144599.5(NIPA1):c.*1845_*1846dup rs113532349
NM_144599.5(NIPA1):c.*1860G>A rs886051001
NM_144599.5(NIPA1):c.*2015G>C rs886051000
NM_144599.5(NIPA1):c.*2070A>C rs746614226
NM_144599.5(NIPA1):c.*2079T>G rs886050999
NM_144599.5(NIPA1):c.*2106T>C rs886050998
NM_144599.5(NIPA1):c.*2148C>A rs886050997
NM_144599.5(NIPA1):c.*2209T>C rs886050996
NM_144599.5(NIPA1):c.*2375A>G rs117724187
NM_144599.5(NIPA1):c.*2398A>G rs188278999
NM_144599.5(NIPA1):c.*2405A>G rs886050995
NM_144599.5(NIPA1):c.*2685T>C rs886050994
NM_144599.5(NIPA1):c.*2727dup rs746846799
NM_144599.5(NIPA1):c.*2949C>G rs569446066
NM_144599.5(NIPA1):c.*3008C>T rs886050993
NM_144599.5(NIPA1):c.*3126C>T rs886050992
NM_144599.5(NIPA1):c.*3169A>G rs886050991
NM_144599.5(NIPA1):c.*3316T>C rs527532188
NM_144599.5(NIPA1):c.*3462A>G rs766376279
NM_144599.5(NIPA1):c.*3707G>C rs373829118
NM_144599.5(NIPA1):c.*37A>T rs886051007
NM_144599.5(NIPA1):c.*3823G>A rs886050990
NM_144599.5(NIPA1):c.*4147C>T rs886050989
NM_144599.5(NIPA1):c.*4156A>G rs577403895
NM_144599.5(NIPA1):c.*4690C>A rs554203851
NM_144599.5(NIPA1):c.*4870T>G rs886050988
NM_144599.5(NIPA1):c.*4895A>G rs754185572
NM_144599.5(NIPA1):c.*519T>A rs560426753
NM_144599.5(NIPA1):c.*5258G>A rs181610828
NM_144599.5(NIPA1):c.*5395_*5396del rs886050987
NM_144599.5(NIPA1):c.*5430T>G rs886050986
NM_144599.5(NIPA1):c.*5474_*5477del rs747886565
NM_144599.5(NIPA1):c.*548A>C rs886051005
NM_144599.5(NIPA1):c.*57G>A rs886051006
NM_144599.5(NIPA1):c.*652A>G rs886051004
NM_144599.5(NIPA1):c.*780G>A rs886051003
NM_144599.5(NIPA1):c.*886C>T rs886051002
NM_144599.5(NIPA1):c.*976C>T rs555439829
NM_144599.5(NIPA1):c.291C>G (p.Pro97=) rs199818530
NM_144599.5(NIPA1):c.427T>G (p.Ser143Ala) rs886051008
NM_144599.5(NIPA1):c.753G>C (p.Ala251=) rs199718530
NM_144599.5(NIPA1):c.810G>A (p.Thr270=) rs138394129

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