ClinVar Miner

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

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Total variants: 173
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HGVS dbSNP
NM_014363.6(SACS):c.10076C>T (p.Thr3359Ile)
NM_014363.6(SACS):c.10205A>G (p.Asp3402Gly) rs543563990
NM_014363.6(SACS):c.10298C>G (p.Thr3433Arg) rs200991790
NM_014363.6(SACS):c.10327A>C (p.Lys3443Gln) rs768317695
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836
NM_014363.6(SACS):c.10387T>C (p.Tyr3463His)
NM_014363.6(SACS):c.10438C>T (p.His3480Tyr)
NM_014363.6(SACS):c.1061C>G (p.Thr354Ser) rs1425519295
NM_014363.6(SACS):c.10675C>G (p.Pro3559Ala) rs767704103
NM_014363.6(SACS):c.10708A>T (p.Ile3570Leu) rs878854977
NM_014363.6(SACS):c.10724A>T (p.His3575Leu)
NM_014363.6(SACS):c.10780A>G (p.Ile3594Val)
NM_014363.6(SACS):c.10790A>G (p.Gln3597Arg)
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119
NM_014363.6(SACS):c.10954C>A (p.Pro3652Thr) rs201505036
NM_014363.6(SACS):c.11066C>A (p.Pro3689Gln) rs148925505
NM_014363.6(SACS):c.11116A>G (p.Ile3706Val)
NM_014363.6(SACS):c.11150A>T (p.Lys3717Ile)
NM_014363.6(SACS):c.11257A>G (p.Arg3753Gly)
NM_014363.6(SACS):c.11264T>C (p.Ile3755Thr)
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala) rs1593122374
NM_014363.6(SACS):c.11319_11321del (p.Arg3774del)
NM_014363.6(SACS):c.11327T>C (p.Ile3776Thr) rs145188410
NM_014363.6(SACS):c.11684T>G (p.Val3895Gly)
NM_014363.6(SACS):c.11717C>T (p.Ala3906Val) rs375961779
NM_014363.6(SACS):c.11738A>T (p.Asp3913Val) rs1236705431
NM_014363.6(SACS):c.11780C>T (p.Ala3927Val)
NM_014363.6(SACS):c.12059A>G (p.Lys4020Arg) rs1328721442
NM_014363.6(SACS):c.12073A>G (p.Asn4025Asp)
NM_014363.6(SACS):c.12075T>G (p.Asn4025Lys)
NM_014363.6(SACS):c.12084G>A (p.Leu4028=)
NM_014363.6(SACS):c.12242A>G (p.Asn4081Ser) rs1060503432
NM_014363.6(SACS):c.1229T>C (p.Leu410Ser)
NM_014363.6(SACS):c.12500C>T (p.Thr4167Ile)
NM_014363.6(SACS):c.12682G>C (p.Asp4228His) rs1447327391
NM_014363.6(SACS):c.1278A>T (p.Leu426Phe) rs138413501
NM_014363.6(SACS):c.12820A>G (p.Arg4274Gly) rs1566055596
NM_014363.6(SACS):c.12884C>T (p.Pro4295Leu) rs781029021
NM_014363.6(SACS):c.12905C>A (p.Ser4302Tyr) rs778808568
NM_014363.6(SACS):c.1297G>C (p.Ala433Pro)
NM_014363.6(SACS):c.13009C>G (p.His4337Asp) rs1555249362
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) rs770895110
NM_014363.6(SACS):c.1310C>G (p.Thr437Arg)
NM_014363.6(SACS):c.13214C>T (p.Ala4405Val)
NM_014363.6(SACS):c.13225A>G (p.Lys4409Glu)
NM_014363.6(SACS):c.13271C>T (p.Ala4424Val)
NM_014363.6(SACS):c.13378_13379delinsTA (p.Ala4460Tyr) rs1566054479
NM_014363.6(SACS):c.13474G>A (p.Val4492Met) rs774647600
NM_014363.6(SACS):c.13574C>G (p.Thr4525Arg) rs750412600
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp)
NM_014363.6(SACS):c.13738_13739del (p.Ter4580LysextTer?) rs776682685
NM_014363.6(SACS):c.137T>G (p.Val46Gly) rs1593160887
NM_014363.6(SACS):c.141G>A (p.Ser47=) rs1593160882
NM_014363.6(SACS):c.1421G>A (p.Arg474His)
NM_014363.6(SACS):c.1463C>T (p.Pro488Leu) rs375875022
NM_014363.6(SACS):c.1483T>A (p.Phe495Ile) rs748972179
NM_014363.6(SACS):c.1525A>G (p.Ile509Val) rs1566080067
NM_014363.6(SACS):c.175T>A (p.Ser59Thr)
NM_014363.6(SACS):c.1846G>C (p.Ala616Pro) rs200437752
NM_014363.6(SACS):c.1886C>T (p.Ala629Val) rs760505057
NM_014363.6(SACS):c.1907G>A (p.Arg636Gln) rs368944813
NM_014363.6(SACS):c.1941G>T (p.Lys647Asn)
NM_014363.6(SACS):c.2023A>T (p.Asn675Tyr) rs374667929
NM_014363.6(SACS):c.2024A>G (p.Asn675Ser) rs146395198
NM_014363.6(SACS):c.2233_2235delinsTTC (p.Arg745Phe)
NM_014363.6(SACS):c.2404C>T (p.Leu802Phe)
NM_014363.6(SACS):c.2492A>G (p.Glu831Gly) rs375968367
NM_014363.6(SACS):c.2509C>T (p.Pro837Ser) rs769153924
NM_014363.6(SACS):c.2551G>T (p.Val851Phe) rs756890722
NM_014363.6(SACS):c.2581C>T (p.His861Tyr) rs759265754
NM_014363.6(SACS):c.2599T>C (p.Tyr867His) rs774682589
NM_014363.6(SACS):c.2702A>T (p.Asp901Val) rs769056718
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131
NM_014363.6(SACS):c.2788A>G (p.Ile930Val) rs886050088
NM_014363.6(SACS):c.2853C>A (p.His951Gln) rs200644511
NM_014363.6(SACS):c.2926C>T (p.Arg976Cys)
NM_014363.6(SACS):c.326A>G (p.Glu109Gly)
NM_014363.6(SACS):c.3329T>C (p.Ile1110Thr)
NM_014363.6(SACS):c.3343G>A (p.Val1115Ile)
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe) rs139805032
NM_014363.6(SACS):c.3429A>G (p.Gln1143=)
NM_014363.6(SACS):c.3443A>C (p.Lys1148Thr)
NM_014363.6(SACS):c.346-3T>A rs186506382
NM_014363.6(SACS):c.3550C>T (p.Pro1184Ser)
NM_014363.6(SACS):c.3551C>G (p.Pro1184Arg)
NM_014363.6(SACS):c.3739C>A (p.Gln1247Lys)
NM_014363.6(SACS):c.3840T>A (p.Thr1280=) rs1319754110
NM_014363.6(SACS):c.4149T>C (p.His1383=) rs749219225
NM_014363.6(SACS):c.432G>T (p.Trp144Cys) rs368570790
NM_014363.6(SACS):c.4457A>T (p.Asp1486Val)
NM_014363.6(SACS):c.4612A>G (p.Ile1538Val) rs544249449
NM_014363.6(SACS):c.4628A>G (p.Glu1543Gly) rs370324250
NM_014363.6(SACS):c.4639A>T (p.Arg1547Trp) rs772907934
NM_014363.6(SACS):c.4665A>C (p.Lys1555Asn) rs769852897
NM_014363.6(SACS):c.475T>C (p.Tyr159His)
NM_014363.6(SACS):c.4782C>G (p.Asp1594Glu)
NM_014363.6(SACS):c.4814G>C (p.Ser1605Thr)
NM_014363.6(SACS):c.4900G>C (p.Glu1634Gln) rs143961484
NM_014363.6(SACS):c.4936C>A (p.Leu1646Met) rs200810800
NM_014363.6(SACS):c.5045G>A (p.Arg1682Lys)
NM_014363.6(SACS):c.5060C>T (p.Thr1687Ile)
NM_014363.6(SACS):c.5079G>A (p.Met1693Ile) rs775069857
NM_014363.6(SACS):c.5147A>G (p.Lys1716Arg)
NM_014363.6(SACS):c.5356G>A (p.Asp1786Asn) rs763496360
NM_014363.6(SACS):c.5368G>A (p.Ala1790Thr) rs147517201
NM_014363.6(SACS):c.559G>T (p.Val187Phe) rs1344578174
NM_014363.6(SACS):c.55G>A (p.Gly19Ser)
NM_014363.6(SACS):c.5711C>T (p.Thr1904Ile) rs758570844
NM_014363.6(SACS):c.5744A>G (p.His1915Arg) rs144822691
NM_014363.6(SACS):c.5768A>C (p.Gln1923Pro)
NM_014363.6(SACS):c.5785C>T (p.Arg1929Trp)
NM_014363.6(SACS):c.5832A>G (p.Ala1944=) rs374169472
NM_014363.6(SACS):c.5848G>A (p.Asp1950Asn) rs370902090
NM_014363.6(SACS):c.5858A>T (p.His1953Leu) rs1428265468
NM_014363.6(SACS):c.5906A>G (p.His1969Arg) rs776693219
NM_014363.6(SACS):c.5930A>G (p.Lys1977Arg) rs774492331
NM_014363.6(SACS):c.5975G>A (p.Arg1992Lys) rs758101602
NM_014363.6(SACS):c.598A>G (p.Ile200Val)
NM_014363.6(SACS):c.6030G>T (p.Lys2010Asn) rs769751841
NM_014363.6(SACS):c.6059G>A (p.Gly2020Glu) rs747566710
NM_014363.6(SACS):c.605A>G (p.Asp202Gly) rs777554091
NM_014363.6(SACS):c.623G>T (p.Ser208Ile) rs911764681
NM_014363.6(SACS):c.6343C>T (p.His2115Tyr) rs757161092
NM_014363.6(SACS):c.6349G>A (p.Glu2117Lys) rs754033201
NM_014363.6(SACS):c.6364A>G (p.Lys2122Glu) rs755723511
NM_014363.6(SACS):c.6409C>G (p.Gln2137Glu) rs201690040
NM_014363.6(SACS):c.6436A>G (p.Ile2146Val) rs1415663565
NM_014363.6(SACS):c.6460G>T (p.Ala2154Ser)
NM_014363.6(SACS):c.6496C>T (p.Arg2166Cys)
NM_014363.6(SACS):c.6518T>C (p.Ile2173Thr) rs368624188
NM_014363.6(SACS):c.6593T>C (p.Ile2198Thr) rs754906806
NM_014363.6(SACS):c.6640C>T (p.Arg2214Cys) rs138379074
NM_014363.6(SACS):c.6679T>A (p.Leu2227Met)
NM_014363.6(SACS):c.6857A>G (p.Lys2286Arg) rs754381972
NM_014363.6(SACS):c.6871G>C (p.Asp2291His) rs1170939021
NM_014363.6(SACS):c.7100C>T (p.Ala2367Val) rs752273313
NM_014363.6(SACS):c.7150G>A (p.Glu2384Lys) rs762896797
NM_014363.6(SACS):c.7207G>C (p.Val2403Leu)
NM_014363.6(SACS):c.7216T>C (p.Ser2406Pro)
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu)
NM_014363.6(SACS):c.7464A>G (p.Ile2488Met) rs1593127405
NM_014363.6(SACS):c.7586C>A (p.Thr2529Asn) rs1320224325
NM_014363.6(SACS):c.7595T>C (p.Ile2532Thr)
NM_014363.6(SACS):c.7613C>T (p.Ala2538Val)
NM_014363.6(SACS):c.7794A>T (p.Glu2598Asp)
NM_014363.6(SACS):c.7981A>G (p.Ile2661Val) rs1269342975
NM_014363.6(SACS):c.8141C>T (p.Ser2714Leu) rs762610527
NM_014363.6(SACS):c.8161A>G (p.Arg2721Gly)
NM_014363.6(SACS):c.818T>A (p.Phe273Tyr) rs182864646
NM_014363.6(SACS):c.8238A>C (p.Lys2746Asn)
NM_014363.6(SACS):c.8281G>A (p.Val2761Met)
NM_014363.6(SACS):c.8357A>G (p.Asp2786Gly) rs1566063039
NM_014363.6(SACS):c.8388_8402del (p.Asp2796_Gln2801delinsGlu) rs1593126382
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014363.6(SACS):c.83C>T (p.Ser28Phe) rs1365453773
NM_014363.6(SACS):c.8504G>A (p.Ser2835Asn) rs1382975968
NM_014363.6(SACS):c.8539C>G (p.Leu2847Val) rs760976439
NM_014363.6(SACS):c.862_863delinsTC (p.Asn288Ser) rs1555254433
NM_014363.6(SACS):c.8693G>A (p.Arg2898His) rs201977288
NM_014363.6(SACS):c.8900G>A (p.Arg2967His)
NM_014363.6(SACS):c.8948A>G (p.Asn2983Ser) rs200106708
NM_014363.6(SACS):c.9008G>C (p.Gly3003Ala) rs1170753806
NM_014363.6(SACS):c.9031A>G (p.Ile3011Val) rs377657177
NM_014363.6(SACS):c.9128A>G (p.Tyr3043Cys)
NM_014363.6(SACS):c.9232A>G (p.Asn3078Asp)
NM_014363.6(SACS):c.9251T>C (p.Ile3084Thr)
NM_014363.6(SACS):c.9275A>T (p.Tyr3092Phe)
NM_014363.6(SACS):c.9292A>G (p.Ile3098Val) rs745664974
NM_014363.6(SACS):c.9492A>C (p.Gln3164His)
NM_014363.6(SACS):c.9550C>T (p.Arg3184Cys) rs143557803
NM_014363.6(SACS):c.9551G>A (p.Arg3184His) rs200453385
NM_014363.6(SACS):c.9947A>C (p.Gln3316Pro)
NM_014363.6(SACS):c.9955A>G (p.Lys3319Glu) rs1566060408

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