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Pathways
Variants search result for All species
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625 records found for search term Atl1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8568446CV39538deletionATL1, 1-BP DEL, 976GHereditary sensory neuropathy type 1D [RCV000023544]|NEUROPATHY, HEREDITARY SENSORY, TYPE ID [RCV000023544]pathogenicHumanname
8558038CV19389insertionATL1, 1-BP INS, 1688AHereditary spastic paraplegia 3A [RCV000004598]pathogenicHumanname
401829271CV2743716single nucleotide variantNM_015915.5(ATL1):c.*87C>Gnot provided [RCV003326892]likely benign145063242650632426Humanname
126737673CV1011124single nucleotide variantNM_015915.5(ATL1):c.35-3C>THereditary spastic paraplegia 3A [RCV001314012]uncertain significance145058782850587828Human1name
155915603CV2063132single nucleotide variantNM_015915.5(ATL1):c.34+3G>CHereditary spastic paraplegia 3A [RCV002838036]uncertain significance145056030250560302Human1name
156164296CV2159150single nucleotide variantNM_015915.5(ATL1):c.35-8T>CHereditary spastic paraplegia 3A [RCV003023308]likely benign145058782350587823Human1name
402465092CV2854958single nucleotide variantNM_015915.5(ATL1):c.35-1G>AHereditary spastic paraplegia 3A [RCV003502917]likely pathogenic145058783050587830Human1name
405070460CV3065114single nucleotide variantNM_015915.5(ATL1):c.34+6T>GHereditary spastic paraplegia 3A [RCV003612144]uncertain significance145056030550560305Human1name
11601831CV320671single nucleotide variantNM_015915.5(ATL1):c.*305T>CHereditary spastic paraplegia 3A [RCV000285544]|Neuropathy, hereditary sensory, type 1D [RCV002259851]|not provided [RCV001574920]benign|likely benign145063264450632644Human2name
11661787CV329487single nucleotide variantNM_015915.5(ATL1):c.*304C>THereditary spastic paraplegia 3A [RCV000380046]uncertain significance145063264350632643Human1name
11626112CV329489single nucleotide variantNM_015915.5(ATL1):c.*450A>GHereditary spastic paraplegia 3A [RCV000406965]benign|likely benign145063278950632789Human1name
11625828CV329491single nucleotide variantNM_015915.5(ATL1):c.*621G>AHereditary spastic paraplegia 3A [RCV000403138]benign|likely benign145063296050632960Human1name
11620641CV336054single nucleotide variantNM_015915.5(ATL1):c.*212T>AHereditary spastic paraplegia 3A [RCV000339497]benign|likely benign145063255150632551Human1name
11621175CV336055single nucleotide variantNM_015915.5(ATL1):c.*392C>AHereditary spastic paraplegia 3A [RCV000345218]benign|likely benign145063273150632731Human1name
11658082CV336058single nucleotide variantNM_015915.5(ATL1):c.*528A>CHereditary spastic paraplegia 3A [RCV000345997]uncertain significance145063286750632867Human1name
11653480CV336059single nucleotide variantNM_015915.5(ATL1):c.*653T>CHereditary spastic paraplegia 3A [RCV000311056]uncertain significance145063299250632992Human1name
11618002CV337996single nucleotide variantNM_015915.5(ATL1):c.*475G>AHereditary spastic paraplegia 3A [RCV000309749]benign|likely benign145063281450632814Human1name
28870821CV871914single nucleotide variantNM_015915.5(ATL1):c.*109A>CHereditary spastic paraplegia 3A [RCV001113749]uncertain significance145063244850632448Human1name
28870824CV871915single nucleotide variantNM_015915.5(ATL1):c.*180A>CHereditary spastic paraplegia 3A [RCV001113750]uncertain significance145063251950632519Human1name
28910979CV871916single nucleotide variantNM_015915.5(ATL1):c.*327A>GHereditary spastic paraplegia 3A [RCV001109729]uncertain significance145063266650632666Human1name
28910980CV871917single nucleotide variantNM_015915.5(ATL1):c.*335C>THereditary spastic paraplegia 3A [RCV001109730]uncertain significance145063267450632674Human1name
28910981CV871918single nucleotide variantNM_015915.5(ATL1):c.*371T>AHereditary spastic paraplegia 3A [RCV001109731]uncertain significance145063271050632710Human1name
28910982CV871919single nucleotide variantNM_015915.5(ATL1):c.*464C>THereditary spastic paraplegia 3A [RCV001109732]uncertain significance145063280350632803Human1name
38490788CV960804single nucleotide variantNM_015915.5(ATL1):c.34+4A>GHereditary spastic paraplegia 3A [RCV001239043]uncertain significance145056030350560303Human1name
127306094CV1144629single nucleotide variantNM_015915.5(ATL1):c.631-7T>GHereditary spastic paraplegia 3A [RCV001500101]likely benign145061325250613252Human1name
150462864CV1253723single nucleotide variantNM_015915.5(ATL1):c.35-74G>Cnot provided [RCV001669765]benign145058775750587757Humanname
8690181CV140131single nucleotide variantNM_015915.5(ATL1):c.630+7G>AATL1-related disorder [RCV003982898]|Hereditary spastic paraplegia 3A [RCV000860437]|Neuropathy, hereditary sensory, type 1D [RCV002259650]|not provided [RCV004715707]|not specified [RCV000123709]benign145059563950595639Human2name , trait , alternate_id
152050201CV1527734single nucleotide variantNM_015915.5(ATL1):c.35-20G>THereditary spastic paraplegia 3A [RCV002089058]likely benign145058781150587811Human1name
152047883CV1569592deletionNM_015915.5(ATL1):c.991-3delHereditary spastic paraplegia 3A [RCV002126864]benign145062183250621832Human1name
152045161CV1588735single nucleotide variantNM_015915.5(ATL1):c.34+10A>GHereditary spastic paraplegia 3A [RCV002188750]likely benign145056030950560309Human1name
152062235CV1594462single nucleotide variantNM_015915.5(ATL1):c.35-10T>CHereditary spastic paraplegia 3A [RCV002110252]likely benign145058782150587821Human1name
152031649CV1629208single nucleotide variantNM_015915.5(ATL1):c.35-11C>AHereditary spastic paraplegia 3A [RCV002106208]likely benign145058782050587820Human1name
155746952CV1800429single nucleotide variantNM_015915.5(ATL1):c.574-3T>CInborn genetic diseases [RCV002347801]uncertain significance145059557350595573Human1name
155746964CV1800439single nucleotide variantNM_015915.5(ATL1):c.574-6T>CHereditary spastic paraplegia 3A [RCV003103225]|Inborn genetic diseases [RCV002347811]likely benign145059557050595570Human2name
156162902CV1903164single nucleotide variantNM_015915.5(ATL1):c.35-15T>CHereditary spastic paraplegia 3A [RCV003082966]likely benign145058781650587816Human1name
10053064CV195727single nucleotide variantNM_015915.5(ATL1):c.631-7T>AATL1-related disorder [RCV003947533]|Hereditary spastic paraplegia 3A [RCV001081633]|not provided [RCV000724713]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance145061325250613252Human1name , trait , alternate_id
156402792CV2010119single nucleotide variantNM_015915.5(ATL1):c.34+16G>CHereditary spastic paraplegia 3A [RCV002726156]likely benign145056031550560315Human1name
156175439CV2038179single nucleotide variantNM_015915.5(ATL1):c.630+9G>AHereditary spastic paraplegia 3A [RCV002741995]likely benign145059564150595641Human1name
156086184CV2080054single nucleotide variantNM_015915.5(ATL1):c.522+5G>AHereditary spastic paraplegia 3A [RCV002847553]uncertain significance145059164450591644Human1name
156183464CV2102560deletionNM_015915.5(ATL1):c.574-5delHereditary spastic paraplegia 3A [RCV002917219]benign145059556450595564Human1name
156176209CV2144779single nucleotide variantNM_015915.5(ATL1):c.990+9C>GHereditary spastic paraplegia 3A [RCV003005558]likely benign145062073550620735Human1name
243064098CV2410875single nucleotide variantNM_015915.5(ATL1):c.417+1G>Tnot provided [RCV003142714]likely pathogenic145059107650591076Humanname
401859349CV2794311single nucleotide variantNM_015915.5(ATL1):c.522+1G>THereditary spastic paraplegia 3A [RCV003384313]likely pathogenic145059164050591640Human1name
401902005CV2810412single nucleotide variantNM_015915.5(ATL1):c.417+4T>Anot provided [RCV003393423]likely benign145059107950591079Humanname
401902007CV2810414single nucleotide variantNM_015915.5(ATL1):c.630+6C>Tnot provided [RCV003393425]uncertain significance145059563850595638Humanname
405066765CV2959986single nucleotide variantNM_015915.5(ATL1):c.35-16C>THereditary spastic paraplegia 3A [RCV003611862]likely benign145058781550587815Human1name
405051146CV3081656single nucleotide variantNM_015915.5(ATL1):c.418-8G>Tnot provided [RCV003740616]likely benign145059152750591527Humanname
405201621CV3128935single nucleotide variantNM_015915.5(ATL1):c.34+16G>THereditary spastic paraplegia 3A [RCV003821978]likely benign145056031550560315Human1name
405154966CV3159338single nucleotide variantNM_015915.5(ATL1):c.724-9T>GHereditary spastic paraplegia 3A [RCV003856603]uncertain significance145061436450614364Human1name
11611230CV320649single nucleotide variantNM_015915.5(ATL1):c.417+3A>GHereditary spastic paraplegia 3A [RCV000558085]|Hereditary spastic paraplegia 3A [RCV002487388]|Hereditary spastic paraplegia [RCV001848110]|Neuropathy, hereditary sensory, type 1D [RCV002259846]|not provided [RCV001690040]benign|likely benign145059107850591078Human3name
11624600CV329483single nucleotide variantNM_015915.5(ATL1):c.991-6T>GHereditary spastic paraplegia 3A [RCV000388283]|Hereditary spastic paraplegia [RCV001848113]|Inborn genetic diseases [RCV002379192]|Neuropathy, hereditary sensory, type 1D [RCV002259850]benign|likely benign145062183750621837Human4name
11653075CV336042single nucleotide variantNM_015915.5(ATL1):c.630+6C>AHereditary spastic paraplegia 3A [RCV000308265]uncertain significance145059563850595638Human1name
597895253CV3744149single nucleotide variantNM_015915.5(ATL1):c.283-8T>CHereditary spastic paraplegia 3A [RCV005071619]likely benign145059093350590933Human1name
597848651CV3792987single nucleotide variantNM_015915.5(ATL1):c.863-3T>CHereditary spastic paraplegia 3A [RCV005145123]uncertain significance145062059650620596Human1name
597970187CV3822001single nucleotide variantNM_015915.5(ATL1):c.862+3T>GHereditary spastic paraplegia 3A [RCV005166464]uncertain significance145061451450614514Human1name
597900599CV3855078single nucleotide variantNM_015915.5(ATL1):c.862+4T>GHereditary spastic paraplegia 3A [RCV005201986]uncertain significance145061451550614515Human1name
12885124CV399673single nucleotide variantNM_015915.5(ATL1):c.990+4T>AHereditary spastic paraplegia 3A [RCV000464748]|Inborn genetic diseases [RCV002379471]|not specified [RCV000518566]likely benign|uncertain significance145062073050620730Human2name
12902392CV409128duplicationNM_015915.5(ATL1):c.991-3dupHereditary spastic paraplegia 3A [RCV002063791]|Inborn genetic diseases [RCV002383923]|Neuropathy, hereditary sensory, type 1D [RCV002259965]|not provided [RCV004719084]benign|likely benign145062183150621832Human3name
13480819CV464292single nucleotide variantNM_015915.5(ATL1):c.630+3G>AHereditary spastic paraplegia 3A [RCV000551150]|Inborn genetic diseases [RCV002358562]uncertain significance145059563550595635Human2name
13538391CV504793single nucleotide variantNM_015915.5(ATL1):c.34+16G>AHereditary spastic paraplegia 3A [RCV003767662]|not specified [RCV000611772]likely benign145056031550560315Human1name
13538083CV504799single nucleotide variantNM_015915.5(ATL1):c.35-14G>AHereditary spastic paraplegia 3A [RCV002064372]|Neuropathy, hereditary sensory, type 1D [RCV002260029]|not provided [RCV003736857]|not specified [RCV000611316]benign145058781750587817Human2name
126726967CV995862single nucleotide variantNM_015915.5(ATL1):c.282+4T>CHereditary spastic paraplegia 3A [RCV001303043]uncertain significance145058808250588082Human1name
127275457CV1102327single nucleotide variantNM_015915.5(ATL1):c.522+10A>GHereditary spastic paraplegia 3A [RCV001443332]likely benign145059164950591649Human1name
150334139CV1164460single nucleotide variantNM_015915.5(ATL1):c.418-19G>THereditary spastic paraplegia 3A [RCV002070360]|Neuropathy, hereditary sensory, type 1D [RCV001553935]|not provided [RCV001692448]|not specified [RCV001529324]benign145059151650591516Human2name
150409068CV1177785single nucleotide variantNM_015915.5(ATL1):c.574-24G>Cnot provided [RCV001546118]likely benign145059555250595552Humanname
150420515CV1181171deletionNM_015915.5(ATL1):c.34+109delnot provided [RCV001551582]likely benign145056040850560408Humanname
150418733CV1194841single nucleotide variantNM_015915.5(ATL1):c.283-56G>Anot provided [RCV001569355]likely benign145059088550590885Humanname
150468804CV1257105single nucleotide variantNM_015915.5(ATL1):c.34+110G>Cnot provided [RCV001670751]benign145056040950560409Humanname
151667843CV1462783single nucleotide variantNM_015915.5(ATL1):c.522+19T>CHereditary spastic paraplegia 3A [RCV001991533]likely benign145059165850591658Human1name
151715627CV1482394duplicationNM_015915.5(ATL1):c.1566+2dupHereditary spastic paraplegia 3A [RCV002020919]uncertain significance145063001050630011Human1name
152141247CV1520581single nucleotide variantNM_015915.5(ATL1):c.1119+7G>AHereditary spastic paraplegia 3A [RCV002178086]likely benign145062325550623255Human1name
152103472CV1569493single nucleotide variantNM_015915.5(ATL1):c.991-12C>GHereditary spastic paraplegia 3A [RCV002115649]likely benign145062183150621831Human1name
152107232CV1581850single nucleotide variantNM_015915.5(ATL1):c.630+20T>CHereditary spastic paraplegia 3A [RCV002079771]likely benign145059565250595652Human1name
152107021CV1609736duplicationNM_015915.5(ATL1):c.991-13dupHereditary spastic paraplegia 3A [RCV002116055]benign145062182550621826Human1name
152140048CV1613784single nucleotide variantNM_015915.5(ATL1):c.522+15C>THereditary spastic paraplegia 3A [RCV002084037]likely benign145059165450591654Human1name
152036353CV1617557single nucleotide variantNM_015915.5(ATL1):c.282+15C>GHereditary spastic paraplegia 3A [RCV002125392]likely benign145058809350588093Human1name
152038635CV1644261single nucleotide variantNM_015915.5(ATL1):c.522+19T>GHereditary spastic paraplegia 3A [RCV002165353]likely benign145059165850591658Human1name
156270931CV1870725duplicationNM_015915.5(ATL1):c.573+24dupHereditary spastic paraplegia 3A [RCV003060714]benign145059391450593915Human1name
156408963CV1880005single nucleotide variantNM_015915.5(ATL1):c.283-16C>GHereditary spastic paraplegia 3A [RCV003071477]likely benign145059092550590925Human1name
156011075CV1880438single nucleotide variantNM_015915.5(ATL1):c.991-19T>AHereditary spastic paraplegia 3A [RCV003077092]likely benign145062182450621824Human1name
156350274CV1886122single nucleotide variantNM_015915.5(ATL1):c.418-19G>AHereditary spastic paraplegia 3A [RCV003090920]likely benign145059151650591516Human1name
156192475CV1904217single nucleotide variantNM_015915.5(ATL1):c.574-20G>AHereditary spastic paraplegia 3A [RCV002574458]likely benign145059555650595556Human1name
156325904CV1972697single nucleotide variantNM_015915.5(ATL1):c.573+14T>CHereditary spastic paraplegia 3A [RCV002600524]likely benign145059391050593910Human1name
156201102CV2010911single nucleotide variantNM_015915.5(ATL1):c.862+15A>GHereditary spastic paraplegia 3A [RCV002700282]likely benign|uncertain significance145061452650614526Human1name
156214611CV2028594single nucleotide variantNM_015915.5(ATL1):c.418-14C>GHereditary spastic paraplegia 3A [RCV002711900]likely benign145059152150591521Human1name
155953627CV2043874single nucleotide variantNM_015915.5(ATL1):c.991-16T>CHereditary spastic paraplegia 3A [RCV002775905]likely benign145062182750621827Human1name
155937168CV2071481single nucleotide variantNM_015915.5(ATL1):c.574-19T>CHereditary spastic paraplegia 3A [RCV002839161]likely benign145059555750595557Human1name
156233216CV2108515single nucleotide variantNM_015915.5(ATL1):c.282+15C>THereditary spastic paraplegia 3A [RCV002919016]likely benign145058809350588093Human1name
156249650CV2129940single nucleotide variantNM_015915.5(ATL1):c.990+14T>CHereditary spastic paraplegia 3A [RCV002959162]likely benign145062074050620740Human1name
156096163CV2163385single nucleotide variantNM_015915.5(ATL1):c.990+19G>CHereditary spastic paraplegia 3A [RCV003038399]likely benign145062074550620745Human1name
156365813CV2192257single nucleotide variantNM_015915.5(ATL1):c.863-12T>CHereditary spastic paraplegia 3A [RCV003065943]likely benign145062058750620587Human1name
402467376CV2862833deletionNM_015915.5(ATL1):c.283-20delHereditary spastic paraplegia 3A [RCV003503528]likely benign145059092150590921Human1name
405064590CV2936679single nucleotide variantNM_015915.5(ATL1):c.631-20C>GHereditary spastic paraplegia 3A [RCV003611695]likely benign145061323950613239Human1name
405062393CV3048101single nucleotide variantNM_015915.5(ATL1):c.282+18T>GHereditary spastic paraplegia 3A [RCV003611447]likely benign145058809650588096Human1name
404979171CV3127765single nucleotide variantNM_015915.5(ATL1):c.630+15A>THereditary spastic paraplegia 3A [RCV003825797]likely benign145059564750595647Human1name
405245662CV3161899single nucleotide variantNM_015915.5(ATL1):c.1047+4T>CHereditary spastic paraplegia 3A [RCV003868612]uncertain significance145062190350621903Human1name
402467362CV3174074single nucleotide variantNM_015915.5(ATL1):c.1048-7T>CHereditary spastic paraplegia 3A [RCV003873357]likely benign145062317050623170Human1name
402515181CV3178869single nucleotide variantNM_015915.5(ATL1):c.283-20T>CHereditary spastic paraplegia 3A [RCV003879302]likely benign145059092150590921Human1name
11603630CV320667single nucleotide variantNM_015915.5(ATL1):c.523-13T>CHereditary spastic paraplegia 3A [RCV000301726]likely benign|uncertain significance145059383350593833Human1name
405700960CV3225915single nucleotide variantNM_015915.5(ATL1):c.1566+1G>CHereditary spastic paraplegia 3A [RCV003989354]uncertain significance145063001050630010Human1name
597841790CV3752893single nucleotide variantNM_015915.5(ATL1):c.990+20A>GHereditary spastic paraplegia 3A [RCV005086622]|not specified [RCV005407385]likely benign|uncertain significance145062074650620746Human1name
597969819CV3791718single nucleotide variantNM_015915.5(ATL1):c.574-14A>GHereditary spastic paraplegia 3A [RCV005141535]likely benign145059556250595562Human1name
14708360CV666576single nucleotide variantNM_015915.5(ATL1):c.990+11C>THereditary spastic paraplegia 3A [RCV002538254]|not provided [RCV000827120]likely benign145062073750620737Human1name
14716215CV667665single nucleotide variantNM_015915.5(ATL1):c.863-54A>GHereditary spastic paraplegia 3A [RCV001554129]|not provided [RCV000829653]benign145062054550620545Human1name
15107096CV695621single nucleotide variantNM_015915.5(ATL1):c.1551+9A>GHereditary spastic paraplegia 3A [RCV002539963]likely benign145062847150628471Human1name
15098224CV776271single nucleotide variantNM_015915.5(ATL1):c.723+10A>CHereditary spastic paraplegia 3A [RCV002068689]likely benign145061336150613361Human1name
127306017CV1144632single nucleotide variantNM_015915.5(ATL1):c.1047+10A>GHereditary spastic paraplegia 3A [RCV001479901]likely benign145062190950621909Human1name
150336561CV1165064single nucleotide variantNM_015915.5(ATL1):c.631-166G>Anot provided [RCV001530899]likely benign145061309350613093Humanname
150422101CV1194843single nucleotide variantNM_015915.5(ATL1):c.1567-78A>Gnot provided [RCV001570844]likely benign145063215150632151Humanname
150418631CV1198543single nucleotide variantNM_015915.5(ATL1):c.990+287T>Cnot provided [RCV001576824]likely benign145062101350621013Humanname
150461031CV1205854single nucleotide variantNM_015915.5(ATL1):c.1120-47A>Cnot provided [RCV001586811]likely benign145062798450627984Humanname
150487572CV1208125deletionNM_015915.5(ATL1):c.990+281delnot provided [RCV001591985]likely benign145062100750621007Humanname
150442332CV1266212deletionNM_015915.5(ATL1):c.630+264delnot provided [RCV001690648]benign145059588650595886Humanname
150473178CV1281382single nucleotide variantNM_015915.5(ATL1):c.1048-58G>Anot provided [RCV001713487]benign145062311950623119Humanname
150473184CV1281384single nucleotide variantNM_015915.5(ATL1):c.418-175T>Cnot provided [RCV001713488]benign145059136050591360Humanname
151352659CV1321766single nucleotide variantNM_015915.5(ATL1):c.1551+41T>Cnot provided [RCV001812616]likely benign145062850350628503Humanname
151787756CV1463801single nucleotide variantNM_015915.5(ATL1):c.1047+20C>THereditary spastic paraplegia 3A [RCV001896807]uncertain significance145062191950621919Human1name
152076448CV1542897single nucleotide variantNM_015915.5(ATL1):c.1567-18T>CHereditary spastic paraplegia 3A [RCV002130282]likely benign145063221150632211Human1name
152047705CV1569518single nucleotide variantNM_015915.5(ATL1):c.1047+18G>AHereditary spastic paraplegia 3A [RCV002126842]likely benign145062191750621917Human1name
156403096CV1885639single nucleotide variantNM_015915.5(ATL1):c.1120-10T>CHereditary spastic paraplegia 3A [RCV003069401]likely benign145062802150628021Human1name
402470143CV2892948single nucleotide variantNM_015915.5(ATL1):c.1566+10A>THereditary spastic paraplegia 3A [RCV003504313]likely benign145063001950630019Human1name
405131872CV2903236deletionNM_015915.5(ATL1):c.1567-12delHereditary spastic paraplegia 3A [RCV003502225]likely benign145063221750632217Human1name
405070302CV3058336duplicationNM_015915.5(ATL1):c.1566+10dupHereditary spastic paraplegia 3A [RCV003612132]likely benign145063001650630017Human1name
405076262CV3079904single nucleotide variantNM_015915.5(ATL1):c.1119+19A>GHereditary spastic paraplegia 3A [RCV003612423]likely benign145062326750623267Human1name
405201111CV3143516single nucleotide variantNM_015915.5(ATL1):c.1551+10C>THereditary spastic paraplegia 3A [RCV003844502]likely benign145062847250628472Human1name
11661247CV329486single nucleotide variantNM_015915.5(ATL1):c.1567-14T>CHereditary spastic paraplegia 3A [RCV000374246]uncertain significance145063221550632215Human1name
597850392CV3746899single nucleotide variantNM_015915.5(ATL1):c.1567-13G>AHereditary spastic paraplegia 3A [RCV005060527]likely benign145063221650632216Human1name
597922409CV3812240single nucleotide variantNM_015915.5(ATL1):c.1048-20A>GHereditary spastic paraplegia 3A [RCV005155877]likely benign145062315750623157Human1name
13541005CV505081single nucleotide variantNM_015915.5(ATL1):c.1047+12T>CHereditary spastic paraplegia 3A [RCV002528608]|not specified [RCV000615533]likely benign145062191150621911Human1name
14723796CV666570single nucleotide variantNM_015915.5(ATL1):c.522+154G>Anot provided [RCV000832696]benign145059179350591793Humanname
14734606CV666571single nucleotide variantNM_015915.5(ATL1):c.862+220C>Tnot provided [RCV000837633]benign145061473150614731Humanname
14710397CV666574single nucleotide variantNM_015915.5(ATL1):c.862+286C>Tnot provided [RCV000827690]benign145061479750614797Humanname
14708500CV666583single nucleotide variantNM_015915.5(ATL1):c.1551+11C>GHereditary spastic paraplegia 3A [RCV002067436]|not provided [RCV000827167]likely benign145062847350628473Human1name
14734604CV667345single nucleotide variantNM_015915.5(ATL1):c.523-112A>Gnot provided [RCV000837632]benign145059373450593734Humanname
14716207CV667348single nucleotide variantNM_015915.5(ATL1):c.574-132G>Anot provided [RCV000829651]benign145059544450595444Human5name
14716211CV667481single nucleotide variantNM_015915.5(ATL1):c.630+105G>ANeuropathy, hereditary sensory, type 1D [RCV001554128]|not provided [RCV000829652]benign145059573750595737Human1name
14734631CV667486single nucleotide variantNM_015915.5(ATL1):c.990+245G>Anot provided [RCV000837644]benign145062097150620971Humanname
14729144CV667671single nucleotide variantNM_015915.5(ATL1):c.1567-77C>Anot provided [RCV000835092]benign145063215250632152Humanname
28868312CV872367single nucleotide variantNM_015915.5(ATL1):c.1120-15C>THereditary spastic paraplegia 3A [RCV001112391]conflicting interpretations of pathogenicity|uncertain significance145062801650628016Human1name
150423929CV1184891duplicationNM_015915.5(ATL1):c.1567-195dupnot provided [RCV001555981]likely benign145063203350632034Humanname
150503865CV1212568single nucleotide variantNM_015915.5(ATL1):c.1551+249T>Cnot provided [RCV001595443]benign145062871150628711Humanname
150511796CV1212838single nucleotide variantNM_015915.5(ATL1):c.1119+150A>Gnot provided [RCV001598070]benign145062339850623398Humanname
150507988CV1213911single nucleotide variantNM_015915.5(ATL1):c.1551+158T>Cnot provided [RCV001596432]likely benign145062862050628620Humanname
150484089CV1280361single nucleotide variantNM_015915.5(ATL1):c.1552-176C>Tnot provided [RCV001715304]benign145062981950629819Humanname
14734634CV666578single nucleotide variantNM_015915.5(ATL1):c.1048-168G>Tnot provided [RCV000837645]benign145062300950623009Humanname
14732407CV666584single nucleotide variantNM_015915.5(ATL1):c.1551+241A>Gnot provided [RCV000836569]likely benign145062870350628703Humanname
14734638CV667349single nucleotide variantNM_015915.5(ATL1):c.1119+149T>GHereditary spastic paraplegia 3A [RCV001554131]|not provided [RCV000837647]benign145062339750623397Human1name
150407768CV1182455microsatelliteNM_015915.5(ATL1):c.574-57TC[11]Hereditary spastic paraplegia 3A [RCV001554127]|not provided [RCV001685519]benign145059551950595520Humanname
401797888CV2741061single nucleotide variantNM_015915.5(ATL1):c.1120-1086T>Cnot provided [RCV003322225]uncertain significance145062694550626945Humanname
11650854CV329462single nucleotide variantNM_001127713.1(ATL1):c.-139-16C>GHereditary spastic paraplegia 3A [RCV000295582]uncertain significance145056011150560111Human1name
14734599CV666568single nucleotide variantNM_001127713.1(ATL1):c.-140+55A>Tnot provided [RCV000837630]benign145053342250533422Humanname
14734602CV667341single nucleotide variantNM_001127713.1(ATL1):c.-140+60G>Anot provided [RCV000837631]benign145053342750533427Humanname
8583826CV118391single nucleotide variantNM_001127713.1(ATL1):c.34+10843A>CLung cancer [RCV000098911]uncertain significance145057114250571142Humanname
150462839CV1253719single nucleotide variantNM_001127713.1(ATL1):c.-140+108C>Tnot provided [RCV001669761]benign145053347550533475Humanname
156191793CV2171256microsatelliteNM_015915.5(ATL1):c.631-9_631-7delHereditary spastic paraplegia 3A [RCV003024155]likely benign145061324550613247Humanname
151787801CV1477051deletionNM_015915.5(ATL1):c.723+3_723+19delHereditary spastic paraplegia 3A [RCV001896995]|Hereditary spastic paraplegia 3A [RCV002478323]uncertain significance145061335050613366Human1name
155908989CV2156781single nucleotide variantNM_015915.5(ATL1):c.22A>C (p.Arg8=)Hereditary spastic paraplegia 3A [RCV003012113]likely benign145056028750560287Human1name
127302074CV1144627single nucleotide variantNM_015915.5(ATL1):c.60A>G (p.Glu20=)Hereditary spastic paraplegia 3A [RCV001478858]likely benign145058785650587856Human1name
156391265CV1872809deletionNM_015915.5(ATL1):c.991-12_991-11delHereditary spastic paraplegia 3A [RCV003051346]likely benign145062183050621831Human1name
156137501CV2048188microsatelliteNM_015915.5(ATL1):c.522+25_522+27delHereditary spastic paraplegia 3A [RCV002800834]likely benign145059165950591661Humanname
402467136CV3174016single nucleotide variantNM_015915.5(ATL1):c.54A>G (p.Thr18=)Hereditary spastic paraplegia 3A [RCV003873299]likely benign145058785050587850Human1name
8601224CV34386single nucleotide variantNM_015915.5(ATL1):c.84A>G (p.Pro28=)Hereditary spastic paraplegia 3A [RCV000020724]|Hereditary spastic paraplegia [RCV001847618]|Neuropathy, hereditary sensory, type 1D [RCV002259567]|not provided [RCV004715648]|not specified [RCV000116421]benign|likely benign|conflicting interpretations of pathogenicity145058788050587880Human3name
597972073CV3794118deletionNM_015915.5(ATL1):c.417+23_417+27delHereditary spastic paraplegia 3A [RCV005142484]likely benign145059109450591098Human1name
13493591CV464156single nucleotide variantNM_015915.5(ATL1):c.30T>C (p.Ser10=)Hereditary spastic paraplegia 3A [RCV000558302]|Inborn genetic diseases [RCV002324019]|Neuropathy, hereditary sensory, type 1D [RCV002260013]|not specified [RCV001662576]benign|likely benign145056029550560295Human3name
15134370CV684496single nucleotide variantNM_015915.5(ATL1):c.45G>A (p.Ser15=)Hereditary spastic paraplegia 3A [RCV000864125]likely benign145058784150587841Human1name
15160442CV688303single nucleotide variantNM_015915.5(ATL1):c.90A>G (p.Lys30=)Hereditary spastic paraplegia 3A [RCV000869014]benign145058788650587886Human1name
127265001CV1102326single nucleotide variantNM_015915.5(ATL1):c.135C>T (p.Ser45=)Hereditary spastic paraplegia 3A [RCV001439774]likely benign145058793150587931Human1name
150556153CV1296693single nucleotide variantNM_015915.5(ATL1):c.19G>A (p.Asp7Asn)not provided [RCV001773983]uncertain significance145056028450560284Humanname
152070599CV1628436single nucleotide variantNM_015915.5(ATL1):c.177G>C (p.Ser59=)Hereditary spastic paraplegia 3A [RCV002169238]likely benign145058797350587973Human1name
156311592CV1899974deletionNM_015915.5(ATL1):c.1120-11_1120-8delHereditary spastic paraplegia 3A [RCV003088482]likely benign145062801750628020Human1name
156180553CV2068433single nucleotide variantNM_015915.5(ATL1):c.114C>T (p.Leu38=)Hereditary spastic paraplegia 3A [RCV002851822]likely benign145058791050587910Human1name
402470112CV2882675single nucleotide variantNM_015915.5(ATL1):c.177G>A (p.Ser59=)Hereditary spastic paraplegia 3A [RCV003504305]|not specified [RCV005407178]likely benign145058797350587973Human1name
402469721CV2885192single nucleotide variantNM_015915.5(ATL1):c.192C>T (p.Asp64=)Hereditary spastic paraplegia 3A [RCV003504172]likely benign145058798850587988Human1name
405065857CV2948684single nucleotide variantNM_015915.5(ATL1):c.249G>A (p.Leu83=)Hereditary spastic paraplegia 3A [RCV003611797]likely benign145058804550588045Human1name
405071702CV3065639single nucleotide variantNM_015915.5(ATL1):c.126T>C (p.Asp42=)Hereditary spastic paraplegia 3A [RCV003612204]likely benign145058792250587922Human1name
405072256CV3066351single nucleotide variantNM_015915.5(ATL1):c.111C>A (p.Val37=)Hereditary spastic paraplegia 3A [RCV003612242]likely benign145058790750587907Human1name
405199763CV3128853single nucleotide variantNM_015915.5(ATL1):c.26A>G (p.Asn9Ser)Hereditary spastic paraplegia 3A [RCV003821896]uncertain significance145056029150560291Human1name
405691581CV3227512insertionNM_015915.5(ATL1):c.991-12_991-11insAHereditary spastic paraplegia 3A [RCV003991857]uncertain significance145062183150621832Human1name
597836005CV3757603single nucleotide variantNM_015915.5(ATL1):c.210A>G (p.Val70=)Hereditary spastic paraplegia 3A [RCV005085617]likely benign145058800650588006Human1name
597942484CV3757808single nucleotide variantNM_015915.5(ATL1):c.11A>G (p.Asn4Ser)Hereditary spastic paraplegia 3A [RCV005077807]uncertain significance145056027650560276Human1name
597915819CV3860916single nucleotide variantNM_015915.5(ATL1):c.282G>A (p.Gln94=)Hereditary spastic paraplegia 3A [RCV005204279]uncertain significance145058807850588078Human1name
13620977CV528546single nucleotide variantNM_015915.5(ATL1):c.27C>G (p.Asn9Lys)Hereditary spastic paraplegia 3A [RCV000647933]|Inborn genetic diseases [RCV002440339]|not provided [RCV005231230]likely benign|uncertain significance145056029250560292Human2name
127244936CV1080534single nucleotide variantNM_015915.5(ATL1):c.318A>T (p.Pro106=)Hereditary spastic paraplegia 3A [RCV001393791]likely benign145059097650590976Human1name
127319078CV1144628single nucleotide variantNM_015915.5(ATL1):c.570C>A (p.Leu190=)Hereditary spastic paraplegia 3A [RCV001503916]likely benign145059389350593893Human1name
127306181CV1144630single nucleotide variantNM_015915.5(ATL1):c.654C>T (p.Asp218=)Hereditary spastic paraplegia 3A [RCV001479960]likely benign145061328250613282Human1name
127319289CV1144631single nucleotide variantNM_015915.5(ATL1):c.735C>T (p.Asn245=)Hereditary spastic paraplegia 3A [RCV001503977]likely benign145061438450614384Human1name
150419440CV1198542deletionNM_015915.5(ATL1):c.723+273_723+277delnot provided [RCV001577182]likely benign145061362450613628Humanname
150446837CV1201785deletionNM_015915.5(ATL1):c.1566+49_1566+51delnot provided [RCV001584653]likely benign145063005650630058Humanname
150469994CV1268189deletionNM_015915.5(ATL1):c.1552-24_1552-20delHereditary spastic paraplegia 3A [RCV002260340]|Neuropathy, hereditary sensory, type 1D [RCV002260341]|not provided [RCV001695053]benign145062996750629971Human2name
150536317CV1309565single nucleotide variantNM_015915.5(ATL1):c.38G>A (p.Gly13Glu)not provided [RCV003238611]uncertain significance145058783450587834Humanname
151805742CV1467766single nucleotide variantNM_015915.5(ATL1):c.44C>T (p.Ser15Leu)Hereditary spastic paraplegia 3A [RCV001931650]|Inborn genetic diseases [RCV003365579]likely benign|uncertain significance145058784050587840Human2name
151807663CV1480345single nucleotide variantNM_015915.5(ATL1):c.38G>C (p.Gly13Ala)Hereditary spastic paraplegia 3A [RCV001935161]uncertain significance145058783450587834Human1name
151807925CV1487412single nucleotide variantNM_015915.5(ATL1):c.33G>C (p.Trp11Cys)Hereditary spastic paraplegia 3A [RCV001935822]|Inborn genetic diseases [RCV002458798]uncertain significance145056029850560298Human2name
151832061CV1508270single nucleotide variantNM_015915.5(ATL1):c.86T>C (p.Val29Ala)Hereditary spastic paraplegia 3A [RCV001986234]uncertain significance145058788250587882Human1name
152075552CV1523370single nucleotide variantNM_015915.5(ATL1):c.873T>C (p.Asp291=)Hereditary spastic paraplegia 3A [RCV002169864]likely benign145062060950620609Human1name
152044898CV1588676single nucleotide variantNM_015915.5(ATL1):c.426G>A (p.Val142=)Hereditary spastic paraplegia 3A [RCV002188720]likely benign145059154350591543Human1name
152049927CV1602663single nucleotide variantNM_015915.5(ATL1):c.927C>T (p.Ser309=)Hereditary spastic paraplegia 3A [RCV002127115]likely benign145062066350620663Human1name
152103815CV1645360single nucleotide variantNM_015915.5(ATL1):c.699C>T (p.Ala233=)Hereditary spastic paraplegia 3A [RCV002133597]likely benign145061332750613327Human1name
155699095CV1813344single nucleotide variantNM_015915.5(ATL1):c.75G>C (p.Glu25Asp)Inborn genetic diseases [RCV002394243]uncertain significance145058787150587871Human1name
156055802CV1892046single nucleotide variantNM_015915.5(ATL1):c.70G>C (p.Glu24Gln)Hereditary spastic paraplegia 3A [RCV003079042]|Inborn genetic diseases [RCV003079043]likely benign|uncertain significance145058786650587866Human2name
156411843CV1972762single nucleotide variantNM_015915.5(ATL1):c.35G>A (p.Gly12Asp)Hereditary spastic paraplegia 3A [RCV002587623]uncertain significance145058783150587831Human1name
156215629CV2070641single nucleotide variantNM_015915.5(ATL1):c.55T>A (p.Tyr19Asn)Hereditary spastic paraplegia 3A [RCV002829483]uncertain significance145058785150587851Human1name
10408112CV213112single nucleotide variantNM_015915.5(ATL1):c.300T>G (p.Val100=)Hereditary spastic paraplegia 3A [RCV000199958]|Inborn genetic diseases [RCV002433889]likely benign|conflicting interpretations of pathogenicity|uncertain significance145059095850590958Human2name
156120738CV2183290single nucleotide variantNM_015915.5(ATL1):c.576T>G (p.Leu192=)Hereditary spastic paraplegia 3A [RCV003039304]likely benign145059557850595578Human1name
401902006CV2810413single nucleotide variantNM_015915.5(ATL1):c.486A>G (p.Thr162=)not provided [RCV003393424]likely benign145059160350591603Humanname
402470128CV2892814single nucleotide variantNM_015915.5(ATL1):c.582T>G (p.Thr194=)Hereditary spastic paraplegia 3A [RCV003504309]likely benign145059558450595584Human1name
402470322CV2893352single nucleotide variantNM_015915.5(ATL1):c.450C>A (p.Thr150=)Hereditary spastic paraplegia 3A [RCV003504362]likely benign145059156750591567Human1name
402465673CV2920235single nucleotide variantNM_015915.5(ATL1):c.531C>T (p.Asn177=)Hereditary spastic paraplegia 3A [RCV003503070]likely benign145059385450593854Human1name
402469003CV2927152single nucleotide variantNM_015915.5(ATL1):c.48A>C (p.Glu16Asp)Hereditary spastic paraplegia 3A [RCV003503977]uncertain significance145058784450587844Human1name
405064855CV2940381single nucleotide variantNM_015915.5(ATL1):c.552G>A (p.Glu184=)Hereditary spastic paraplegia 3A [RCV003611715]likely benign145059387550593875Human1name
405086316CV3016445single nucleotide variantNM_015915.5(ATL1):c.634C>T (p.Leu212=)Hereditary spastic paraplegia 3A [RCV003613360]likely benign145061326250613262Human1name
405073133CV3075736single nucleotide variantNM_015915.5(ATL1):c.348T>C (p.Ser116=)Hereditary spastic paraplegia 3A [RCV003612306]likely benign145059100650591006Human1name
405207852CV3145614single nucleotide variantNM_015915.5(ATL1):c.996T>C (p.Tyr332=)Hereditary spastic paraplegia 3A [RCV003845344]likely benign145062184850621848Human1name
405231905CV3157436single nucleotide variantNM_015915.5(ATL1):c.444G>A (p.Gln148=)Hereditary spastic paraplegia 3A [RCV003865386]likely benign145059156150591561Human1name
11609482CV320668single nucleotide variantNM_015915.5(ATL1):c.705C>T (p.Phe235=)Hereditary spastic paraplegia 3A [RCV000462387]|Hereditary spastic paraplegia [RCV001848112]|Neuropathy, hereditary sensory, type 1D [RCV002259849]|not provided [RCV001812807]|not specified [RCV000428403]benign|likely benign145061333350613333Human3name
11614071CV329479single nucleotide variantNM_015915.5(ATL1):c.756C>T (p.Asn252=)Hereditary spastic paraplegia 3A [RCV000871475]|Inborn genetic diseases [RCV002392857]|not specified [RCV004999300]likely benign|conflicting interpretations of pathogenicity|uncertain significance145061440550614405Human2name
11620201CV329480single nucleotide variantNM_015915.5(ATL1):c.969G>C (p.Arg323=)Hereditary spastic paraplegia 3A [RCV001435351]|Inborn genetic diseases [RCV002374532]|Spastic paraplegia, autosomal dominant [RCV000333856]likely benign|uncertain significance145062070550620705Human3name
11620431CV336024single nucleotide variantNM_015915.5(ATL1):c.408T>C (p.Asp136=)ATL1-related disorder [RCV003940214]|Hereditary spastic paraplegia 3A [RCV000551365]|Hereditary spastic paraplegia 3A [RCV002502228]|Hereditary spastic paraplegia [RCV001848109]|Neuropathy, hereditary sensory, type 1D [RCV002259845]benign|likely benign145059106650591066Human3name , trait , alternate_id
11613950CV336046single nucleotide variantNM_015915.5(ATL1):c.669C>T (p.Tyr223=)ATL1-related disorder [RCV003910175]|Hereditary spastic paraplegia 3A [RCV000471358]|Hereditary spastic paraplegia [RCV001848111]|Inborn genetic diseases [RCV002365365]|Neuropathy, hereditary sensory, type 1D [RCV002259847]|not provided [RCV001531188]|not specifbenign|likely benign|conflicting interpretations of pathogenicity145061329750613297Human4name , trait , alternate_id
11617952CV337982single nucleotide variantNM_015915.5(ATL1):c.693T>C (p.Gly231=)ATL1-related disorder [RCV003910176]|Hereditary spastic paraplegia 3A [RCV001083267]|Inborn genetic diseases [RCV002365366]|Neuropathy, hereditary sensory, type 1D [RCV002259848]|not provided [RCV000713456]|not specified [RCV000419034]benign|likely benign145061332150613321Human3name , trait , alternate_id
8601220CV34382single nucleotide variantNM_015915.5(ATL1):c.351G>A (p.Glu117=)Hereditary spastic paraplegia 3A [RCV000020720]|Hereditary spastic paraplegia 3A [RCV002496429]|Hereditary spastic paraplegia [RCV001847616]|Neuropathy, hereditary sensory, type 1D [RCV001553934]|not provided [RCV000860187]|not specified [RCV000116420]benign|likely benign145059100950591009Human3name
8601223CV34385single nucleotide variantNM_015915.5(ATL1):c.621G>A (p.Lys207=)Hereditary spastic paraplegia 3A [RCV000020723]|Hereditary spastic paraplegia [RCV001847617]|Inborn genetic diseases [RCV002362591]|Neuropathy, hereditary sensory, type 1D [RCV002259566]|not provided [RCV004704813]|not specified [RCV000430134]benign|likely benign145059562350595623Human4name
12833659CV374244single nucleotide variantNM_015915.5(ATL1):c.687C>T (p.Ala229=)Inborn genetic diseases [RCV002365464]|not provided [RCV001712180]likely benign145061331550613315Human1name
597853983CV3762403single nucleotide variantNM_015915.5(ATL1):c.55T>C (p.Tyr19His)not specified [RCV005088319]uncertain significance145058785150587851Humanname
597956133CV3787280single nucleotide variantNM_015915.5(ATL1):c.354A>G (p.Arg118=)Hereditary spastic paraplegia 3A [RCV005122165]likely benign145059101250591012Human1name
597904361CV3846034single nucleotide variantNM_015915.5(ATL1):c.633T>C (p.Ser211=)Hereditary spastic paraplegia 3A [RCV005181656]|not provided [RCV005426430]likely benign145061326150613261Human1name
13532064CV505073single nucleotide variantNM_015915.5(ATL1):c.780T>C (p.Cys260=)Inborn genetic diseases [RCV002413736]|not specified [RCV000606680]likely benign145061442950614429Human1name
13620974CV528201single nucleotide variantNM_015915.5(ATL1):c.46G>C (p.Glu16Gln)Hereditary spastic paraplegia 3A [RCV000647930]|not provided [RCV005231229]uncertain significance145058784250587842Human1name
13620984CV528567single nucleotide variantNM_015915.5(ATL1):c.570C>G (p.Leu190=)Hereditary spastic paraplegia 3A [RCV000647938]|Hereditary spastic paraplegia [RCV001849026]|Neuropathy, hereditary sensory, type 1D [RCV002260038]benign|likely benign145059389350593893Human3name
15119717CV693510single nucleotide variantNM_015915.5(ATL1):c.879C>T (p.Phe293=)Hereditary spastic paraplegia 3A [RCV001439856]likely benign145062061550620615Human1name
15194803CV725678single nucleotide variantNM_015915.5(ATL1):c.483C>T (p.Ala161=)Hereditary spastic paraplegia 3A [RCV001482328]likely benign145059160050591600Human1name
38460103CV936632single nucleotide variantNM_015915.5(ATL1):c.61T>C (p.Trp21Arg)Hereditary spastic paraplegia 3A [RCV001211767]uncertain significance145058785750587857Human1name
41406415CV982887single nucleotide variantNM_015915.5(ATL1):c.921C>T (p.Pro307=)Hereditary spastic paraplegia 3A [RCV001483701]|Neuropathy, hereditary sensory, type 1D [RCV002260150]|not specified [RCV001288452]benign|likely benign145062065750620657Human2name
126763704CV1031623single nucleotide variantNM_015915.5(ATL1):c.196G>A (p.Glu66Lys)Hereditary spastic paraplegia 3A [RCV001341383]uncertain significance145058799250587992Human1name
126924368CV1048569single nucleotide variantNM_015915.5(ATL1):c.125A>T (p.Asp42Val)Hereditary spastic paraplegia 3A [RCV001366952]uncertain significance145058792150587921Human1name
126922183CV1048570single nucleotide variantNM_015915.5(ATL1):c.206C>T (p.Ala69Val)Hereditary spastic paraplegia 3A [RCV001364369]uncertain significance145058800250588002Human1name
127243279CV1080533single nucleotide variantNM_015915.5(ATL1):c.200T>C (p.Val67Ala)Hereditary spastic paraplegia 3A [RCV001398337]likely benign145058799650587996Human1name
127230608CV1080535single nucleotide variantNM_015915.5(ATL1):c.1332A>G (p.Ala444=)Hereditary spastic paraplegia 3A [RCV001412552]likely benign145062824350628243Human1name
127253680CV1080536single nucleotide variantNM_015915.5(ATL1):c.1434T>C (p.Asn478=)Hereditary spastic paraplegia 3A [RCV001400616]likely benign145062834550628345Human1name
127241042CV1080537single nucleotide variantNM_015915.5(ATL1):c.1452C>T (p.Thr484=)Hereditary spastic paraplegia 3A [RCV001393042]likely benign145062836350628363Human1name
127235470CV1102328single nucleotide variantNM_015915.5(ATL1):c.1542G>A (p.Leu514=)ATL1-related disorder [RCV003930921]|Hereditary spastic paraplegia 3A [RCV001433108]likely benign145062845350628453Human1name , trait , alternate_id
127322922CV1144633single nucleotide variantNM_015915.5(ATL1):c.1137A>G (p.Lys379=)Hereditary spastic paraplegia 3A [RCV001485091]likely benign145062804850628048Human1name
127313409CV1144634single nucleotide variantNM_015915.5(ATL1):c.1158C>T (p.Asp386=)Hereditary spastic paraplegia 3A [RCV001502153]likely benign145062806950628069Human1name
127314973CV1157265single nucleotide variantNM_015915.5(ATL1):c.1329T>C (p.His443=)Hereditary spastic paraplegia 3A [RCV001519822]benign145062824050628240Human1name
127322161CV1157266single nucleotide variantNM_015915.5(ATL1):c.1458C>T (p.Ile486=)Hereditary spastic paraplegia 3A [RCV001523392]benign145062836950628369Human1name
150516465CV1287371single nucleotide variantNM_015915.5(ATL1):c.1332A>C (p.Ala444=)Hereditary spastic paraplegia 3A [RCV002538671]|not provided [RCV001723350]likely benign145062824350628243Human1name
150551707CV1295192single nucleotide variantNM_015915.5(ATL1):c.209T>A (p.Val70Glu)not provided [RCV001754485]uncertain significance145058800550588005Humanname
150556711CV1305638deletionNM_015915.5(ATL1):c.535del (p.Ser179fs)not provided [RCV001774628]uncertain significance145059385850593858Humanname
151832395CV1349929single nucleotide variantNM_015915.5(ATL1):c.254A>G (p.Asp85Gly)Hereditary spastic paraplegia 3A [RCV001987055]uncertain significance145058805050588050Human1name
151709346CV1351431single nucleotide variantNM_015915.5(ATL1):c.1650T>A (p.Thr550=)Hereditary spastic paraplegia 3A [RCV001992996]likely benign|uncertain significance145063231250632312Human1name
151815059CV1358689single nucleotide variantNM_015915.5(ATL1):c.178G>C (p.Glu60Gln)Hereditary spastic paraplegia 3A [RCV001950632]uncertain significance145058797450587974Human1name
151790982CV1367450single nucleotide variantNM_015915.5(ATL1):c.282G>C (p.Gln94His)Hereditary spastic paraplegia 3A [RCV001903958]uncertain significance145058807850588078Human1name
151718149CV1382129single nucleotide variantNM_015915.5(ATL1):c.115A>G (p.Ile39Val)Hereditary spastic paraplegia 3A [RCV002028584]uncertain significance145058791150587911Human1name
151793567CV1399408single nucleotide variantNM_015915.5(ATL1):c.1074A>C (p.Ala358=)Hereditary spastic paraplegia 3A [RCV001908624]likely benign145062320350623203Human1name
151722715CV1508691single nucleotide variantNM_015915.5(ATL1):c.133T>G (p.Ser45Ala)Hereditary spastic paraplegia 3A [RCV002043441]uncertain significance145058792950587929Human1name
152170403CV1567594single nucleotide variantNM_015915.5(ATL1):c.1377T>C (p.Tyr459=)Hereditary spastic paraplegia 3A [RCV002183138]likely benign145062828850628288Human1name
152171726CV1575593single nucleotide variantNM_015915.5(ATL1):c.1341C>T (p.Thr447=)Hereditary spastic paraplegia 3A [RCV002183597]likely benign145062825250628252Human1name
152036703CV1609889single nucleotide variantNM_015915.5(ATL1):c.1296T>C (p.Tyr432=)Hereditary spastic paraplegia 3A [RCV002165065]likely benign145062820750628207Human1name
152045557CV1614228single nucleotide variantNM_015915.5(ATL1):c.1428A>G (p.Leu476=)Hereditary spastic paraplegia 3A [RCV002166235]likely benign145062833950628339Human1name
152083868CV1645563single nucleotide variantNM_015915.5(ATL1):c.1245G>A (p.Arg415=)Hereditary spastic paraplegia 3A [RCV002170900]likely benign145062815650628156Human1name
155671371CV1829225single nucleotide variantNM_015915.5(ATL1):c.132T>A (p.His44Gln)Inborn genetic diseases [RCV002385903]uncertain significance145058792850587928Human1name
156381492CV1889868single nucleotide variantNM_015915.5(ATL1):c.1311T>C (p.Asp437=)Hereditary spastic paraplegia 3A [RCV003093311]likely benign145062822250628222Human1name
156221894CV1899849single nucleotide variantNM_015915.5(ATL1):c.1201C>T (p.Leu401=)Hereditary spastic paraplegia 3A [RCV003085030]likely benign145062811250628112Human1name
156184574CV1908725single nucleotide variantNM_015915.5(ATL1):c.1347C>T (p.Ala449=)Hereditary spastic paraplegia 3A [RCV002595172]likely benign145062825850628258Human1name
10050002CV191260single nucleotide variantNM_015915.5(ATL1):c.1200G>A (p.Lys400=)Hereditary spastic paraplegia 3A [RCV001081632]|Inborn genetic diseases [RCV002345600]|not provided [RCV000724714]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance145062811150628111Human2name
156437688CV1947699single nucleotide variantNM_015915.5(ATL1):c.1374A>G (p.Thr458=)Hereditary spastic paraplegia 3A [RCV003107228]likely benign145062828550628285Human1name
156009919CV1989662single nucleotide variantNM_015915.5(ATL1):c.182C>T (p.Ala61Val)Hereditary spastic paraplegia 3A [RCV002636166]|Inborn genetic diseases [RCV005281206]uncertain significance145058797850587978Human2name
156398140CV1990817single nucleotide variantNM_015915.5(ATL1):c.1077C>T (p.Ala359=)Hereditary spastic paraplegia 3A [RCV002605340]likely benign145062320650623206Human1name
156047194CV1996643single nucleotide variantNM_015915.5(ATL1):c.268T>C (p.Tyr90His)Hereditary spastic paraplegia 3A [RCV002659245]|not provided [RCV003151902]uncertain significance145058806450588064Human1name
155984628CV2070305single nucleotide variantNM_015915.5(ATL1):c.271A>C (p.Met91Leu)Hereditary spastic paraplegia 3A [RCV002842683]uncertain significance145058806750588067Human1name
156043331CV2089759single nucleotide variantNM_015915.5(ATL1):c.1002G>A (p.Lys334=)Hereditary spastic paraplegia 3A [RCV002867529]likely benign145062185450621854Human1name
156229152CV2093720single nucleotide variantNM_015915.5(ATL1):c.1512A>G (p.Gly504=)Hereditary spastic paraplegia 3A [RCV002894486]likely benign145062842350628423Human1name
156155828CV2121973single nucleotide variantNM_015915.5(ATL1):c.261G>A (p.Met87Ile)Hereditary spastic paraplegia 3A [RCV002929060]|Inborn genetic diseases [RCV003274099]uncertain significance145058805750588057Human2name
10408067CV213113single nucleotide variantNM_015915.5(ATL1):c.1641G>A (p.Ser547=)Hereditary spastic paraplegia 3A [RCV001475871]|Inborn genetic diseases [RCV002390529]pathogenic|likely pathogenic|likely benign145063230350632303Human2name
156082871CV2169127single nucleotide variantNM_015915.5(ATL1):c.1392G>C (p.Val464=)Hereditary spastic paraplegia 3A [RCV003037944]likely benign145062830350628303Human1name
156148109CV2188522single nucleotide variantNM_015915.5(ATL1):c.179A>C (p.Glu60Ala)Hereditary spastic paraplegia 3A [RCV003056433]uncertain significance145058797550587975Human1name
11348534CV241848single nucleotide variantNM_015915.5(ATL1):c.1230G>A (p.Gly410=)Hereditary spastic paraplegia 3A [RCV000227026]|Hereditary spastic paraplegia 3A [RCV002494654]|Hereditary spastic paraplegia [RCV001847999]|Inborn genetic diseases [RCV002365211]|Neuropathy, hereditary sensory, type 1D [RCV002259738]|not provided [RCV001812648]|not specified [RCV000613364]benign|likely benign145062814150628141Human4name
329395306CV2473083single nucleotide variantNM_015915.5(ATL1):c.208G>T (p.Val70Leu)not provided [RCV003219067]uncertain significance145058800450588004Humanname
401780003CV2725818single nucleotide variantNM_015915.5(ATL1):c.147T>G (p.Asp49Glu)Inborn genetic diseases [RCV003287791]uncertain significance145058794350587943Human1name
401909132CV2803838single nucleotide variantNM_015915.5(ATL1):c.218C>T (p.Ala73Val)ATL1-related disorder [RCV003397779]uncertain significance145058801450588014Humanname , trait , alternate_id
401902008CV2810415single nucleotide variantNM_015915.5(ATL1):c.1212G>A (p.Gly404=)not provided [RCV003393426]likely benign145062812350628123Humanname
405075790CV2952914single nucleotide variantNM_015915.5(ATL1):c.1485G>C (p.Arg495=)Hereditary spastic paraplegia 3A [RCV003612510]likely benign145062839650628396Human1name
405058505CV3031525single nucleotide variantNM_015915.5(ATL1):c.1203A>T (p.Leu401=)Hereditary spastic paraplegia 3A [RCV003611148]likely benign145062811450628114Human1name
405071320CV3065474single nucleotide variantNM_015915.5(ATL1):c.1035A>G (p.Lys345=)Hereditary spastic paraplegia 3A [RCV003612177]likely benign145062188750621887Human1name
404978844CV3127683single nucleotide variantNM_015915.5(ATL1):c.1449G>C (p.Leu483=)Hereditary spastic paraplegia 3A [RCV003825715]likely benign145062836050628360Human1name
405181183CV3147537single nucleotide variantNM_015915.5(ATL1):c.271A>G (p.Met91Val)Hereditary spastic paraplegia 3A [RCV003842439]uncertain significance145058806750588067Human1name
402470425CV3171143single nucleotide variantNM_015915.5(ATL1):c.1197G>C (p.Val399=)Hereditary spastic paraplegia 3A [RCV003874106]likely benign145062810850628108Human1name
402495206CV3183069single nucleotide variantNM_015915.5(ATL1):c.1611G>C (p.Leu537=)Hereditary spastic paraplegia 3A [RCV003877377]likely benign145063227350632273Human1name
11601685CV320669single nucleotide variantNM_015915.5(ATL1):c.1623T>G (p.Ala541=)Hereditary spastic paraplegia 3A [RCV000875223]|Inborn genetic diseases [RCV002402025]likely benign|conflicting interpretations of pathogenicity|uncertain significance145063228550632285Human2name
11612478CV337983single nucleotide variantNM_015915.5(ATL1):c.1152A>G (p.Pro384=)Hereditary spastic paraplegia 3A [RCV000865579]|Inborn genetic diseases [RCV002348051]|not specified [RCV000608836]likely benign|conflicting interpretations of pathogenicity|uncertain significance145062806350628063Human2name
11618957CV337987single nucleotide variantNM_015915.5(ATL1):c.1173C>T (p.His391=)Hereditary spastic paraplegia 3A [RCV001086937]|Inborn genetic diseases [RCV002328826]|not provided [RCV000487834]|not specified [RCV000518429]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance145062808450628084Human2name
8601219CV34381single nucleotide variantNM_015915.5(ATL1):c.129C>G (p.Asp43Glu)Hereditary spastic paraplegia 3A [RCV000020719]benign|not provided145058792550587925Human1name
597656305CV3731562single nucleotide variantNM_015915.5(ATL1):c.273G>A (p.Met91Ile)not provided [RCV005001743]uncertain significance145058806950588069Humanname
597847463CV3746358single nucleotide variantNM_015915.5(ATL1):c.109G>C (p.Val37Leu)Hereditary spastic paraplegia 3A [RCV005060176]uncertain significance145058790550587905Human1name
597871793CV3768399deletionNM_015915.5(ATL1):c.521del (p.Gln174fs)Hereditary spastic paraplegia 3A [RCV005122778]pathogenic145059163850591638Human1name
597972978CV3790859single nucleotide variantNM_015915.5(ATL1):c.1392G>A (p.Val464=)Hereditary spastic paraplegia 3A [RCV005143074]likely benign145062830350628303Human1name
597948043CV3800858single nucleotide variantNM_015915.5(ATL1):c.1341C>G (p.Thr447=)Hereditary spastic paraplegia 3A [RCV005135258]likely benign145062825250628252Human1name
597836351CV3828416single nucleotide variantNM_015915.5(ATL1):c.1426C>T (p.Leu476=)Hereditary spastic paraplegia 3A [RCV005171308]likely benign145062833750628337Human1name
597935806CV3845304single nucleotide variantNM_015915.5(ATL1):c.1518A>C (p.Val506=)Hereditary spastic paraplegia 3A [RCV005186617]likely benign145062842950628429Human1name
597846186CV3880587single nucleotide variantNM_015915.5(ATL1):c.1410G>A (p.Leu470=)not provided [RCV005227475]uncertain significance145062832150628321Humanname
598243236CV3914878single nucleotide variantNM_015915.5(ATL1):c.205G>T (p.Ala69Ser)Inborn genetic diseases [RCV005276669]uncertain significance145058800150588001Human1name
8602260CV39537single nucleotide variantNM_015915.5(ATL1):c.196G>C (p.Glu66Gln)Hereditary spastic paraplegia 3A [RCV000543629]|Inborn genetic diseases [RCV002415427]|Neuropathy, hereditary sensory, type 1D [RCV000023543]|not provided [RCV000236565]pathogenic|likely benign|uncertain significance145058799250587992Human3name
13490315CV464290single nucleotide variantNM_015915.5(ATL1):c.164G>A (p.Arg55Gln)Hereditary spastic paraplegia 3A [RCV000533437]|Inborn genetic diseases [RCV004024173]|not provided [RCV001755864]uncertain significance145058796050587960Human2name
13535239CV505477single nucleotide variantNM_015915.5(ATL1):c.1676A>G (p.Ter559=)Hereditary spastic paraplegia 3A [RCV003502540]|not specified [RCV000607630]likely benign145063233850632338Human1name
13705586CV536873single nucleotide variantNM_015915.5(ATL1):c.127G>A (p.Asp43Asn)not provided [RCV000658147]uncertain significance145058792350587923Humanname
13809406CV568098single nucleotide variantNM_015915.5(ATL1):c.163C>T (p.Arg55Trp)Hereditary spastic paraplegia 3A [RCV000702118]|Inborn genetic diseases [RCV004669092]|not provided [RCV003140112]uncertain significance145058795950587959Human2name
14700069CV625307deletionNM_015915.5(ATL1):c.976del (p.Val326fs)Charcot-Marie-Tooth disease [RCV000789725]|Neuropathy, hereditary sensory, type 1D [RCV000023544]pathogenic|uncertain significance145062071150620711Human2name
14730256CV642484single nucleotide variantNM_015915.5(ATL1):c.176C>T (p.Ser59Leu)Hereditary spastic paraplegia 3A [RCV000800876]|Inborn genetic diseases [RCV002397615]uncertain significance145058797250587972Human2name
15144401CV769817single nucleotide variantNM_015915.5(ATL1):c.1308T>C (p.Asn436=)Hereditary spastic paraplegia 3A [RCV001492703]likely benign145062821950628219Human1name
15136414CV784725single nucleotide variantNM_015915.5(ATL1):c.1266G>A (p.Glu422=)Hereditary spastic paraplegia 3A [RCV001481963]likely benign145062817750628177Human1name
26893079CV841541single nucleotide variantNM_015915.5(ATL1):c.293A>G (p.Asp98Gly)Hereditary spastic paraplegia 3A [RCV001068936]uncertain significance145059095150590951Human1name
28870818CV871913single nucleotide variantNM_015915.5(ATL1):c.1635A>G (p.Pro545=)Hereditary spastic paraplegia 3A [RCV001113748]|Neuropathy, hereditary sensory, type 1D [RCV002260140]benign145063229750632297Human2name
8635226CV90448single nucleotide variantNM_001127713.1(ATL1):c.87G>A (p.Val29=)Malignant melanoma [RCV000070546]not provided145058788350587883Humanname
38459343CV919529single nucleotide variantNM_015915.5(ATL1):c.169C>T (p.Leu57Phe)Neuropathy, hereditary sensory, type 1D [RCV001195765]uncertain significance145058796550587965Human1name
38492320CV927095single nucleotide variantNM_015915.5(ATL1):c.1119G>A (p.Glu373=)Hereditary spastic paraplegia 3A [RCV001223499]likely pathogenic145062324850623248Human1name
127233978CV977098single nucleotide variantNM_015915.5(ATL1):c.118G>T (p.Val40Phe)Hereditary spastic paraplegia 3A [RCV001391389]pathogenic145058791450587914Human1name
126772505CV1011125single nucleotide variantNM_015915.5(ATL1):c.298G>T (p.Val100Phe)Hereditary spastic paraplegia 3A [RCV001323791]uncertain significance145059095650590956Human1name
126753571CV1011126single nucleotide variantNM_015915.5(ATL1):c.716G>A (p.Arg239His)Hereditary spastic paraplegia 3A [RCV001316506]|Spastic paraplegia [RCV001731196]likely pathogenic|uncertain significance145061334450613344Human3name
126915490CV1048571single nucleotide variantNM_015915.5(ATL1):c.471G>T (p.Leu157Phe)Hereditary spastic paraplegia 3A [RCV001360017]likely pathogenic|uncertain significance145059158850591588Human1name
126924328CV1048572single nucleotide variantNM_015915.5(ATL1):c.701A>G (p.Lys234Arg)Hereditary spastic paraplegia 3A [RCV001366908]|Inborn genetic diseases [RCV002368186]uncertain significance145061332950613329Human2name
127237367CV1053977single nucleotide variantNM_015915.5(ATL1):c.740A>G (p.His247Arg)Hereditary spastic paraplegia 3A [RCV001376177]likely pathogenic|conflicting interpretations of pathogenicity145061438950614389Human1name
127250670CV1063108single nucleotide variantNM_015915.5(ATL1):c.565C>G (p.His189Asp)Hereditary spastic paraplegia 3A [RCV001385343]pathogenic145059388850593888Human1name
150334799CV1166103single nucleotide variantNM_015915.5(ATL1):c.944T>G (p.Ile315Ser)not provided [RCV001531189]likely pathogenic145062068050620680Humanname
150419241CV1194842single nucleotide variantNM_015915.5(ATL1):c.766C>G (p.His256Asp)Hereditary spastic paraplegia 3A [RCV001866014]|not provided [RCV001569594]likely pathogenic|uncertain significance145061441550614415Human1name
150412136CV1196116single nucleotide variantNM_015915.5(ATL1):c.508A>G (p.Ile170Val)not provided [RCV001573980]uncertain significance145059162550591625Humanname
150432158CV1246196single nucleotide variantNM_015915.5(ATL1):c.754A>T (p.Asn252Tyr)not provided [RCV001663609]uncertain significance145061440350614403Humanname
150528682CV1288442single nucleotide variantNM_015915.5(ATL1):c.991G>T (p.Ala331Ser)not provided [RCV001726910]uncertain significance145062184350621843Humanname
150528104CV1301628single nucleotide variantNM_015915.5(ATL1):c.533T>G (p.Leu178Ter)not provided [RCV001755000]uncertain significance145059385650593856Humanname
151754487CV1335943single nucleotide variantNM_015915.5(ATL1):c.670G>A (p.Glu224Lys)Hereditary spastic paraplegia [RCV001848343]uncertain significance145061329850613298Human1name
151793108CV1365528single nucleotide variantNM_015915.5(ATL1):c.754A>C (p.Asn252His)Hereditary spastic paraplegia 3A [RCV001907906]uncertain significance145061440350614403Human1name
151786430CV1365741single nucleotide variantNM_015915.5(ATL1):c.544G>A (p.Val182Ile)Hereditary spastic paraplegia 3A [RCV001893789]uncertain significance145059386750593867Human1name
151818355CV1385077single nucleotide variantNM_015915.5(ATL1):c.997A>G (p.Ile333Val)Hereditary spastic paraplegia 3A [RCV001958165]|Inborn genetic diseases [RCV004681349]likely benign|uncertain significance145062184950621849Human2name
151807013CV1441106single nucleotide variantNM_015915.5(ATL1):c.391C>T (p.Leu131Phe)Hereditary spastic paraplegia 3A [RCV001933778]uncertain significance145059104950591049Human1name
151823900CV1458085single nucleotide variantNM_015915.5(ATL1):c.773A>T (p.His258Leu)Hereditary spastic paraplegia 3A [RCV001970209]pathogenic145061442250614422Human1name
151718589CV1468563single nucleotide variantNM_015915.5(ATL1):c.482C>T (p.Ala161Val)Hereditary spastic paraplegia 3A [RCV002030577]likely pathogenic145059159950591599Human1name
151724274CV1482589single nucleotide variantNM_015915.5(ATL1):c.568C>T (p.Leu190Phe)Hereditary spastic paraplegia 3A [RCV002047311]|not provided [RCV002285507]uncertain significance145059389150593891Human1name
151712253CV1485294single nucleotide variantNM_015915.5(ATL1):c.341G>T (p.Gly114Val)Hereditary spastic paraplegia 3A [RCV002006429]uncertain significance145059099950590999Human1name
151808949CV1506728single nucleotide variantNM_015915.5(ATL1):c.409G>T (p.Gly137Cys)Hereditary spastic paraplegia 3A [RCV001937898]|Inborn genetic diseases [RCV002324316]uncertain significance145059106750591067Human2name
9681764CV167412single nucleotide variantNM_015915.5(ATL1):c.353G>A (p.Arg118Gln)Hereditary spastic paraplegia 3A [RCV002514782]|not provided [RCV000144894]pathogenic|likely pathogenic|uncertain significance145059101150591011Human1name
152982326CV1677268single nucleotide variantNM_015915.5(ATL1):c.466A>C (p.Thr156Pro)Hereditary spastic paraplegia 3A [RCV002248974]pathogenic|likely pathogenic145059158350591583Human1name
153001184CV1679933single nucleotide variantNM_015915.5(ATL1):c.740A>C (p.His247Pro)not provided [RCV002251612]likely pathogenic145061438950614389Humanname
153303948CV1686533single nucleotide variantNM_015915.5(ATL1):c.299T>C (p.Val100Ala)not provided [RCV002261967]uncertain significance145059095750590957Humanname
153301804CV1687937single nucleotide variantNM_015915.5(ATL1):c.628C>A (p.Gln210Lys)not provided [RCV002265163]uncertain significance145059563050595630Humanname
155697866CV1778712single nucleotide variantNM_015915.5(ATL1):c.412A>G (p.Lys138Glu)Hereditary spastic paraplegia 3A [RCV002299752]uncertain significance145059107050591070Human1name
155715298CV1784907single nucleotide variantNM_015915.5(ATL1):c.308A>G (p.Tyr103Cys)Hereditary spastic paraplegia 3A [RCV003102304]|Inborn genetic diseases [RCV002325767]uncertain significance145059096650590966Human2name
155740475CV1809415single nucleotide variantNM_015915.5(ATL1):c.499A>G (p.Ser167Gly)Inborn genetic diseases [RCV002342985]uncertain significance145059161650591616Human1name
155747115CV1816645single nucleotide variantNM_015915.5(ATL1):c.788A>G (p.Asn263Ser)Hereditary spastic paraplegia 3A [RCV003099774]|Inborn genetic diseases [RCV002416573]uncertain significance145061443750614437Human2name
155701778CV1818446single nucleotide variantNM_015915.5(ATL1):c.968G>A (p.Arg323Gln)Inborn genetic diseases [RCV002376578]uncertain significance145062070450620704Human1name
155702702CV1825381single nucleotide variantNM_015915.5(ATL1):c.970G>T (p.Gly324Cys)Inborn genetic diseases [RCV002376695]uncertain significance145062070650620706Human1name
155797592CV1863392single nucleotide variantNM_015915.5(ATL1):c.458G>C (p.Ser153Thr)Hereditary spastic paraplegia 3A [RCV002470667]likely pathogenic145059157550591575Human1name
156176586CV1874703single nucleotide variantNM_015915.5(ATL1):c.916A>G (p.Ser306Gly)Hereditary spastic paraplegia 3A [RCV003041206]uncertain significance145062065250620652Human1name
10045100CV188852single nucleotide variantNM_015915.5(ATL1):c.988A>T (p.Lys330Ter)Hereditary spastic paraplegia 3A [RCV003987402]|not provided [RCV000171222]pathogenic|likely pathogenic|no classifications from unflagged records145062072450620724Human1name
156416825CV1898238single nucleotide variantNM_015915.5(ATL1):c.884A>G (p.Lys295Arg)Hereditary spastic paraplegia 3A [RCV002610381]|Inborn genetic diseases [RCV004673805]uncertain significance145062062050620620Human2name
155953580CV1918246single nucleotide variantNM_015915.5(ATL1):c.947A>G (p.Asn316Ser)Hereditary spastic paraplegia 3A [RCV002616355]uncertain significance145062068350620683Human1name
156039094CV1929478single nucleotide variantNM_015915.5(ATL1):c.375A>G (p.Ile125Met)Hereditary spastic paraplegia 3A [RCV002637502]uncertain significance145059103350591033Human1name
8596380CV19385single nucleotide variantNM_015915.5(ATL1):c.715C>T (p.Arg239Cys)Hereditary spastic paraplegia 3A [RCV000004594]|Hereditary spastic paraplegia 3A [RCV000850530]|Hereditary spastic paraplegia [RCV001847579]|Spastic paraplegia [RCV001003978]|not provided [RCV000215830]pathogenic|likely pathogenic145061334350613343Human4name
8596381CV19386single nucleotide variantNM_015915.5(ATL1):c.776C>A (p.Ser259Tyr)Hereditary spastic paraplegia 3A [RCV000004595]pathogenic145061442550614425Human1name
8596382CV19387single nucleotide variantNM_015915.5(ATL1):c.773A>G (p.His258Arg)Hereditary spastic paraplegia 3A [RCV000004596]pathogenic145061442250614422Human1name
8596383CV19388single nucleotide variantNM_015915.5(ATL1):c.650G>A (p.Arg217Gln)Hereditary spastic paraplegia 3A [RCV000004597]|not provided [RCV001725929]pathogenic|likely pathogenic145061327850613278Human1name
8596386CV19392single nucleotide variantNM_015915.5(ATL1):c.470T>G (p.Leu157Trp)Hereditary spastic paraplegia 3A [RCV000004601]pathogenic145059158750591587Human1name
156244079CV1956857single nucleotide variantNM_015915.5(ATL1):c.864A>C (p.Glu288Asp)Hereditary spastic paraplegia 3A [RCV002576320]uncertain significance145062060050620600Human1name
156290788CV1998021single nucleotide variantNM_015915.5(ATL1):c.875A>G (p.Glu292Gly)Hereditary spastic paraplegia 3A [RCV002670757]uncertain significance145062061150620611Human1name
156222381CV2009236single nucleotide variantNM_015915.5(ATL1):c.898C>A (p.Leu300Met)Hereditary spastic paraplegia 3A [RCV002701054]|not provided [RCV003443071]uncertain significance145062063450620634Human1name
156202127CV2034782single nucleotide variantNM_015915.5(ATL1):c.741T>G (p.His247Gln)Hereditary spastic paraplegia 3A [RCV002766278]uncertain significance145061439050614390Human1name
156285502CV2050153single nucleotide variantNM_015915.5(ATL1):c.584A>C (p.Glu195Ala)Hereditary spastic paraplegia 3A [RCV002807138]pathogenic145059558650595586Human1name
10401322CV205019single nucleotide variantNM_015915.5(ATL1):c.596T>A (p.Leu199Gln)Hereditary spastic paraplegia 3A [RCV000190502]pathogenic145059559850595598Human1name
156111131CV2121164single nucleotide variantNM_015915.5(ATL1):c.710A>G (p.Glu237Gly)Hereditary spastic paraplegia 3A [RCV002953119]uncertain significance145061333850613338Human1name
156055136CV2192659single nucleotide variantNM_015915.5(ATL1):c.412A>T (p.Lys138Ter)not provided [RCV003037049]uncertain significance145059107050591070Humanname
10768241CV222372single nucleotide variantNM_015915.5(ATL1):c.757G>A (p.Val253Ile)Hereditary spastic paraplegia 3A [RCV000206078]|Hereditary spastic paraplegia [RCV001847933]|not provided [RCV000235294]pathogenic|likely pathogenic145061440650614406Human2name
155993226CV2252198single nucleotide variantNM_015915.5(ATL1):c.304G>C (p.Asp102His)Inborn genetic diseases [RCV002778730]uncertain significance145059096250590962Human1name
243063645CV2411922single nucleotide variantNM_015915.5(ATL1):c.713A>G (p.Lys238Arg)not provided [RCV003141646]uncertain significance145061334150613341Humanname
11523390CV244919single nucleotide variantNM_015915.5(ATL1):c.416A>G (p.Lys139Arg)not provided [RCV000235824]uncertain significance145059107450591074Humanname
11633172CV264598single nucleotide variantNM_015915.5(ATL1):c.478T>C (p.Ser160Pro)Hereditary spastic paraplegia 3A [RCV000705284]|not provided [RCV000316265]pathogenic|uncertain significance145059159550591595Human1name
329848354CV2668001single nucleotide variantNM_015915.5(ATL1):c.656G>A (p.Trp219Ter)Hereditary spastic paraplegia [RCV003229541]likely pathogenic145061328450613284Human1name
329953886CV2669225single nucleotide variantNM_015915.5(ATL1):c.757G>T (p.Val253Phe)Hereditary spastic paraplegia 3A [RCV003502715]|not provided [RCV003231729]likely pathogenic|uncertain significance145061440650614406Human1name
401724115CV2672222single nucleotide variantNM_015915.5(ATL1):c.845T>G (p.Phe282Cys)not provided [RCV003239123]uncertain significance145061449450614494Humanname
401727681CV2736469duplicationNM_015915.5(ATL1):c.1474dup (p.Ala492fs)Hereditary spastic paraplegia 3A [RCV003312917]uncertain significance145062838250628383Human1name
401727682CV2736470duplicationNM_015915.5(ATL1):c.1504dup (p.Glu502fs)Hereditary spastic paraplegia 3A [RCV003312918]uncertain significance145062841450628415Human1name
401727684CV2736471single nucleotide variantNM_015915.5(ATL1):c.452T>C (p.Phe151Ser)Hereditary spastic paraplegia 3A [RCV003312919]uncertain significance145059156950591569Human1name
401727685CV2736472single nucleotide variantNM_015915.5(ATL1):c.460C>G (p.Gln154Glu)Hereditary spastic paraplegia 3A [RCV003312920]uncertain significance145059157750591577Human1name
401828694CV2743029single nucleotide variantNM_015915.5(ATL1):c.404C>T (p.Pro135Leu)not provided [RCV003325737]uncertain significance145059106250591062Humanname
401829269CV2743715single nucleotide variantNM_015915.5(ATL1):c.439A>T (p.Thr147Ser)not provided [RCV003326891]uncertain significance145059155650591556Humanname
401940518CV2839497single nucleotide variantNM_015915.5(ATL1):c.709G>A (p.Glu237Lys)Hereditary spastic paraplegia 3A [RCV003455853]uncertain significance145061333750613337Human1name
404988773CV2849662single nucleotide variantNM_015915.5(ATL1):c.602T>C (p.Met201Thr)not provided [RCV003490489]uncertain significance145059560450595604Humanname
405065509CV2938179single nucleotide variantNM_015915.5(ATL1):c.421G>T (p.Ala141Ser)Hereditary spastic paraplegia 3A [RCV003611768]uncertain significance145059153850591538Human1name
405077937CV2965328single nucleotide variantNM_015915.5(ATL1):c.763A>G (p.Lys255Glu)Hereditary spastic paraplegia 3A [RCV003612648]uncertain significance145061441250614412Human1name
405078250CV2976125single nucleotide variantNM_015915.5(ATL1):c.583G>A (p.Glu195Lys)Hereditary spastic paraplegia 3A [RCV003612676]uncertain significance145059558550595585Human1name
405078792CV2984025single nucleotide variantNM_015915.5(ATL1):c.574C>G (p.Leu192Val)Hereditary spastic paraplegia 3A [RCV003612723]|not provided [RCV004823177]pathogenic|uncertain significance145059557650595576Human1name
405081571CV2998075single nucleotide variantNM_015915.5(ATL1):c.317C>G (p.Pro106Arg)Hereditary spastic paraplegia 3A [RCV003612969]uncertain significance145059097550590975Human1name
405084249CV3000846single nucleotide variantNM_015915.5(ATL1):c.574C>A (p.Leu192Ile)Hereditary spastic paraplegia 3A [RCV003613197]uncertain significance145059557650595576Human1name
405057445CV3022978single nucleotide variantNM_015915.5(ATL1):c.463T>C (p.Ser155Pro)Hereditary spastic paraplegia 3A [RCV003611027]uncertain significance145059158050591580Human1name
405088224CV3028890single nucleotide variantNM_015915.5(ATL1):c.336G>A (p.Trp112Ter)Hereditary spastic paraplegia 3A [RCV003613515]pathogenic145059099450590994Human1name
405291092CV3222199single nucleotide variantNM_015915.5(ATL1):c.749T>G (p.Leu250Arg)Hereditary spastic paraplegia 3A [RCV003985013]not provided145061439850614398Humanname
405701213CV3279957single nucleotide variantNM_015915.5(ATL1):c.509T>C (p.Ile170Thr)Inborn genetic diseases [RCV004425439]uncertain significance145059162650591626Human1name
11626057CV329463single nucleotide variantNM_015915.5(ATL1):c.622C>T (p.Pro208Ser)ATL1-related disorder [RCV003409489]|Hereditary spastic paraplegia 3A [RCV000406065]|Inborn genetic diseases [RCV002365364]|not provided [RCV000428652]conflicting interpretations of pathogenicity|uncertain significance145059562450595624Human2name , trait , alternate_id
407429098CV3413485single nucleotide variantNM_015915.5(ATL1):c.701A>T (p.Lys234Ile)Hereditary spastic paraplegia 3A [RCV004594893]uncertain significance145061332950613329Human1name
8566970CV34380duplicationNM_015915.5(ATL1):c.1519dup (p.Ile507fs)Hereditary spastic paraplegia 3A [RCV000020718]pathogenic|conflicting interpretations of pathogenicity145062842850628429Human1name
8601221CV34383single nucleotide variantNM_015915.5(ATL1):c.467C>T (p.Thr156Ile)Hereditary spastic paraplegia 3A [RCV000020721]|not provided [RCV000713455]pathogenic145059158450591584Human1name
8601222CV34384single nucleotide variantNM_015915.5(ATL1):c.578T>G (p.Phe193Cys)Hereditary spastic paraplegia 3A [RCV000020722]benign|not provided145059558050595580Human1name
407504787CV3485158single nucleotide variantNM_015915.5(ATL1):c.311A>T (p.Asn104Ile)Inborn genetic diseases [RCV004670649]uncertain significance145059096950590969Human1name
407505065CV3485169single nucleotide variantNM_015915.5(ATL1):c.955A>C (p.Lys319Gln)Inborn genetic diseases [RCV004670658]uncertain significance145062069150620691Human1name
407505010CV3485200single nucleotide variantNM_015915.5(ATL1):c.959T>C (p.Ile320Thr)Inborn genetic diseases [RCV004670678]uncertain significance145062069550620695Human1name
408391144CV3527905single nucleotide variantNM_015915.5(ATL1):c.680A>G (p.Tyr227Cys)not provided [RCV004775176]|not specified [RCV005061403]uncertain significance145061330850613308Humanname
597626988CV3599908single nucleotide variantNM_015915.5(ATL1):c.843C>G (p.Asn281Lys)Inborn genetic diseases [RCV004966302]uncertain significance145061449250614492Human1name
597676193CV3710805single nucleotide variantNM_015915.5(ATL1):c.940G>T (p.Glu314Ter)Hereditary spastic paraplegia 3A [RCV005005637]likely pathogenic145062067650620676Human1name
12843167CV373858single nucleotide variantNM_015915.5(ATL1):c.322A>G (p.Thr108Ala)Hereditary spastic paraplegia 3A [RCV000647937]|Inborn genetic diseases [RCV002446648]|not provided [RCV001702364]likely benign|conflicting interpretations of pathogenicity|uncertain significance145059098050590980Human2name
597932599CV3742653single nucleotide variantNM_015915.5(ATL1):c.349G>C (p.Glu117Gln)Hereditary spastic paraplegia 3A [RCV005076092]uncertain significance145059100750591007Human1name
597936727CV3774564single nucleotide variantNM_015915.5(ATL1):c.924G>C (p.Glu308Asp)Hereditary spastic paraplegia 3A [RCV005117597]uncertain significance145062066050620660Human1name
597944527CV3793747single nucleotide variantNM_015915.5(ATL1):c.757G>C (p.Val253Leu)Hereditary spastic paraplegia 3A [RCV005134387]uncertain significance145061440650614406Human1name
597958745CV3797334single nucleotide variantNM_015915.5(ATL1):c.417G>T (p.Lys139Asn)Hereditary spastic paraplegia 3A [RCV005138021]uncertain significance145059107550591075Human1name
597944092CV3812454single nucleotide variantNM_015915.5(ATL1):c.995A>C (p.Tyr332Ser)Hereditary spastic paraplegia 3A [RCV005159664]uncertain significance145062184750621847Human1name
597959665CV3843424single nucleotide variantNM_015915.5(ATL1):c.935T>C (p.Ile312Thr)Hereditary spastic paraplegia 3A [RCV005192459]uncertain significance145062067150620671Human1name
597906474CV3853460single nucleotide variantNM_015915.5(ATL1):c.773A>C (p.His258Pro)Hereditary spastic paraplegia 3A [RCV005202938]uncertain significance145061442250614422Human1name
598218188CV3891630single nucleotide variantNM_015915.5(ATL1):c.766C>A (p.His256Asn)Hereditary spastic paraplegia 3A [RCV005252472]|not provided [RCV005410051]uncertain significance145061441550614415Human1name
598243197CV3914870single nucleotide variantNM_015915.5(ATL1):c.907T>C (p.Trp303Arg)Inborn genetic diseases [RCV005276661]uncertain significance145062064350620643Human1name
598243270CV3914886single nucleotide variantNM_015915.5(ATL1):c.965G>C (p.Cys322Ser)Inborn genetic diseases [RCV005276676]uncertain significance145062070150620701Human1name
12887904CV399833single nucleotide variantNM_015915.5(ATL1):c.461A>G (p.Gln154Arg)Abnormal pyramidal sign [RCV001526629]|Hereditary spastic paraplegia 3A [RCV000469923]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance145059157850591578Human2name
12906011CV413376single nucleotide variantNM_015915.5(ATL1):c.922G>A (p.Glu308Lys)Hereditary spastic paraplegia 3A [RCV001856884]|Neuropathy, hereditary sensory, type 1D [RCV001334885]|not provided [RCV000488307]likely benign|uncertain significance145062065850620658Human2name
13446400CV437968single nucleotide variantNM_015915.5(ATL1):c.688G>A (p.Asp230Asn)Hereditary spastic paraplegia 3A [RCV001346950]|Inborn genetic diseases [RCV002367703]|Neuropathy, hereditary sensory, type 1D [RCV001706655]|not provided [RCV000513662]uncertain significance145061331650613316Human3name
13481549CV441647single nucleotide variantNM_015915.5(ATL1):c.481G>T (p.Ala161Ser)Hereditary spastic paraplegia 3A [RCV000802695]|not specified [RCV000517609]likely pathogenic|uncertain significance145059159850591598Human1name
13471157CV441648single nucleotide variantNM_015915.5(ATL1):c.563A>G (p.Gln188Arg)not provided [RCV000518489]likely pathogenic145059388650593886Humanname
13485984CV445234single nucleotide variantNM_015915.5(ATL1):c.311A>G (p.Asn104Ser)Hereditary spastic paraplegia 3A [RCV000536617]|not provided [RCV000522762]conflicting interpretations of pathogenicity|uncertain significance145059096950590969Human1name
13477682CV445235single nucleotide variantNM_015915.5(ATL1):c.587A>G (p.Tyr196Cys)Hereditary spastic paraplegia 3A [RCV001320969]|not provided [RCV000520465]pathogenic|likely pathogenic|uncertain significance145059558950595589Human1name
13494406CV463801single nucleotide variantNM_015915.5(ATL1):c.594A>C (p.Arg198Ser)Hereditary spastic paraplegia 3A [RCV000536383]likely pathogenic|uncertain significance145059559650595596Human1name
13472402CV464298single nucleotide variantNM_015915.5(ATL1):c.874G>A (p.Glu292Lys)Hereditary spastic paraplegia 3A [RCV000524891]uncertain significance145062061050620610Human1name
13499027CV464300single nucleotide variantNM_015915.5(ATL1):c.953A>T (p.Asn318Ile)Hereditary spastic paraplegia 3A [RCV000539569]|Inborn genetic diseases [RCV002530064]|not provided [RCV003235284]uncertain significance145062068950620689Human2name
13620972CV528195single nucleotide variantNM_015915.5(ATL1):c.769A>G (p.Ile257Val)Hereditary spastic paraplegia 3A [RCV000647929]uncertain significance145061441850614418Human1name
13620985CV528559single nucleotide variantNM_015915.5(ATL1):c.306C>A (p.Asp102Glu)Hereditary spastic paraplegia 3A [RCV000647939]|Inborn genetic diseases [RCV002449065]|Neuropathy, hereditary sensory, type 1D [RCV002260039]|not provided [RCV001653968]benign|likely benign145059096450590964Human3name
13620978CV528565single nucleotide variantNM_015915.5(ATL1):c.536C>A (p.Ser179Tyr)Hereditary spastic paraplegia 3A [RCV000647934]|not provided [RCV003480737]likely pathogenic|uncertain significance145059385950593859Human1name
13802608CV566492single nucleotide variantNM_015915.5(ATL1):c.572A>G (p.Gln191Arg)Hereditary spastic paraplegia 3A [RCV000698465]pathogenic|likely pathogenic|uncertain significance145059389550593895Human1name
13807099CV568101single nucleotide variantNM_015915.5(ATL1):c.373A>G (p.Ile125Val)Hereditary spastic paraplegia 3A [RCV000700886]uncertain significance145059103150591031Human1name
14396325CV612099deletionNM_015915.5(ATL1):c.1511del (p.Gly504fs)Hereditary spastic paraplegia 3A [RCV000761255]likely pathogenic145062842050628420Human1name
14396816CV612987single nucleotide variantNM_015915.5(ATL1):c.547C>G (p.Gln183Glu)not provided [RCV000761873]uncertain significance145059387050593870Humanname
14704300CV626229duplicationNM_015915.5(ATL1):c.1111dup (p.Met371fs)Neuropathy, hereditary sensory, type 1D [RCV000791019]likely pathogenic145062323350623234Human1name
14707244CV642485single nucleotide variantNM_015915.5(ATL1):c.388T>C (p.Phe130Leu)Hereditary spastic paraplegia 3A [RCV000792266]|Inborn genetic diseases [RCV002352309]uncertain significance145059104650591046Human2name
14724244CV642486single nucleotide variantNM_015915.5(ATL1):c.540A>C (p.Gln180His)Hereditary spastic paraplegia 3A [RCV000798317]uncertain significance145059386350593863Human1name
14734121CV642487single nucleotide variantNM_015915.5(ATL1):c.756C>A (p.Asn252Lys)Hereditary spastic paraplegia 3A [RCV000818981]uncertain significance145061440550614405Human1name
21072587CV791410single nucleotide variantNM_015915.5(ATL1):c.488T>C (p.Val163Ala)Hereditary spastic paraplegia 3A [RCV000989218]|not provided [RCV001580004]pathogenic|likely pathogenic145059160550591605Human1name
26885717CV841542single nucleotide variantNM_015915.5(ATL1):c.716G>T (p.Arg239Leu)Hereditary spastic paraplegia 3A [RCV001065616]pathogenic|likely pathogenic145061334450613344Human1name
26903382CV841543single nucleotide variantNM_015915.5(ATL1):c.860A>G (p.Lys287Arg)Hereditary spastic paraplegia 3A [RCV001050443]uncertain significance145061450950614509Human1name
26896949CV841544single nucleotide variantNM_015915.5(ATL1):c.918T>G (p.Ser306Arg)Hereditary spastic paraplegia 3A [RCV001048303]uncertain significance145062065450620654Human1name
28877905CV860107single nucleotide variantNM_015915.5(ATL1):c.543T>A (p.Asn181Lys)not provided [RCV001090530]uncertain significance145059386650593866Humanname
38462275CV919530single nucleotide variantNM_015915.5(ATL1):c.833C>T (p.Thr278Ile)Neuropathy, hereditary sensory, type 1D [RCV001198355]uncertain significance145061448250614482Human1name
38468350CV920874single nucleotide variantNM_015915.5(ATL1):c.564G>T (p.Gln188His)not provided [RCV001200590]uncertain significance145059388750593887Humanname
38484569CV927093single nucleotide variantNM_015915.5(ATL1):c.686C>G (p.Ala229Gly)Hereditary spastic paraplegia 3A [RCV001219488]|Inborn genetic diseases [RCV002365992]|not provided [RCV001288451]uncertain significance145061331450613314Human2name
38489015CV927094single nucleotide variantNM_015915.5(ATL1):c.776C>T (p.Ser259Phe)Hereditary spastic paraplegia 3A [RCV001221487]|not provided [RCV001268896]pathogenic|conflicting interpretations of pathogenicity145061442550614425Human1name
38476577CV936633single nucleotide variantNM_015915.5(ATL1):c.473G>T (p.Arg158Ile)Hereditary spastic paraplegia 3A [RCV001204748]uncertain significance145059159050591590Human1name
38458564CV936634single nucleotide variantNM_015915.5(ATL1):c.971G>A (p.Gly324Asp)Hereditary spastic paraplegia 3A [RCV001211444]uncertain significance145062070750620707Human1name
38494201CV957231single nucleotide variantNM_015915.5(ATL1):c.598G>A (p.Ala200Thr)Hereditary spastic paraplegia 3A [RCV001240910]uncertain significance145059560050595600Human1name
38598089CV963167single nucleotide variantNM_015915.5(ATL1):c.574C>T (p.Leu192Phe)Hereditary spastic paraplegia 3A [RCV001251114]likely pathogenic145059557650595576Human1name
40889894CV975391single nucleotide variantNM_015915.5(ATL1):c.352C>T (p.Arg118Ter)not provided [RCV001268399]pathogenic145059101050591010Humanname
127233981CV977099single nucleotide variantNM_015915.5(ATL1):c.470T>C (p.Leu157Ser)Hereditary spastic paraplegia 3A [RCV001391390]pathogenic145059158750591587Human1name
127233986CV977100single nucleotide variantNM_015915.5(ATL1):c.575T>A (p.Leu192His)Hereditary spastic paraplegia 3A [RCV001391391]pathogenic145059557750595577Human1name
127233987CV977101single nucleotide variantNM_015915.5(ATL1):c.749T>C (p.Leu250Pro)Hereditary spastic paraplegia 3A [RCV001391392]pathogenic145061439850614398Human1name
127233991CV977102single nucleotide variantNM_015915.5(ATL1):c.751C>A (p.Gln251Lys)Hereditary spastic paraplegia 3A [RCV001391393]pathogenic|conflicting interpretations of pathogenicity145061440050614400Human1name
127233995CV977104deletionNM_015915.5(ATL1):c.1207del (p.Arg403fs)Hereditary spastic paraplegia 3A [RCV001391395]pathogenic145062811750628117Human1name
126731193CV995863single nucleotide variantNM_015915.5(ATL1):c.731G>T (p.Gly244Val)Hereditary spastic paraplegia 3A [RCV001294337]uncertain significance145061438050614380Human1name
126751799CV1011127single nucleotide variantNM_015915.5(ATL1):c.1360G>C (p.Val454Leu)Hereditary spastic paraplegia 3A [RCV001316182]|Inborn genetic diseases [RCV002384399]|not provided [RCV001751606]uncertain significance145062827150628271Human2name
126765463CV1031624single nucleotide variantNM_015915.5(ATL1):c.1511G>A (p.Gly504Glu)Hereditary spastic paraplegia 3A [RCV001342040]uncertain significance145062842250628422Human1name
126763930CV1031625single nucleotide variantNM_015915.5(ATL1):c.1638G>C (p.Lys546Asn)Hereditary spastic paraplegia 3A [RCV001341468]uncertain significance145063230050632300Human1name
127258561CV1056171single nucleotide variantNM_015915.5(ATL1):c.1048G>T (p.Ala350Ser)Hereditary spastic paraplegia 3A [RCV001379963]likely pathogenic145062317750623177Human1name
127257122CV1056172single nucleotide variantNM_015915.5(ATL1):c.1216A>C (p.Lys406Gln)Accessory ectopic thyroid tissue [RCV001849513]|Hereditary spastic paraplegia 3A [RCV001379692]likely pathogenic|uncertain significance145062812750628127Human2name
151349261CV1170287single nucleotide variantNM_015915.5(ATL1):c.1225G>A (p.Gly409Ser)Abnormality of the nervous system [RCV001814486]likely pathogenic145062813650628136Human2name
150405263CV1191585single nucleotide variantNM_015915.5(ATL1):c.1051A>G (p.Thr351Ala)Hereditary spastic paraplegia 3A [RCV002568431]|not provided [RCV001564203]likely pathogenic|uncertain significance145062318050623180Human1name
150481938CV1265700single nucleotide variantNM_015915.5(ATL1):c.1501C>T (p.Arg501Ter)ATL1-related spastic paraplegia, recessive [RCV005253870]|not provided [RCV001682696]pathogenic145062841250628412Humanname , trait
150495554CV1282983insertionNM_015915.5(ATL1):c.1552-68_1552-67insATAHereditary spastic paraplegia 3A [RCV002260389]|Neuropathy, hereditary sensory, type 1D [RCV002260390]|not provided [RCV001717405]benign145062992650629927Human2name
150551432CV1292708single nucleotide variantNM_015915.5(ATL1):c.1346C>A (p.Ala449Asp)not provided [RCV001754316]likely pathogenic|uncertain significance145062825750628257Humanname
151351791CV1323635single nucleotide variantNM_015915.5(ATL1):c.1061C>T (p.Ala354Val)See cases [RCV004584447]uncertain significance145062319050623190Humanname
151353173CV1326118single nucleotide variantNM_015915.5(ATL1):c.1242C>G (p.Ser414Arg)not provided [RCV001816138]likely pathogenic145062815350628153Humanname
151733532CV1336579single nucleotide variantNM_015915.5(ATL1):c.1049C>T (p.Ala350Val)Lingual thyroid [RCV001849809]uncertain significance145062317850623178Human2name
151710228CV1338846single nucleotide variantNM_015915.5(ATL1):c.1574A>G (p.Tyr525Cys)Hereditary spastic paraplegia 3A [RCV001997381]|Inborn genetic diseases [RCV004043903]uncertain significance145063223650632236Human2name
151724839CV1350614single nucleotide variantNM_015915.5(ATL1):c.1460C>T (p.Thr487Ile)Hereditary spastic paraplegia 3A [RCV002048916]uncertain significance145062837150628371Human1name
151715139CV1351593single nucleotide variantNM_015915.5(ATL1):c.1502G>A (p.Arg501Gln)Hereditary spastic paraplegia 3A [RCV002018912]uncertain significance145062841350628413Human1name
151812481CV1361565single nucleotide variantNM_015915.5(ATL1):c.1256A>T (p.Gln419Leu)Hereditary spastic paraplegia 3A [RCV001945080]uncertain significance145062816750628167Human1name
151821544CV1379637single nucleotide variantNM_015915.5(ATL1):c.1514C>G (p.Ala505Gly)Hereditary spastic paraplegia 3A [RCV001964851]uncertain significance145062842550628425Human1name
151777049CV1430839single nucleotide variantNM_015915.5(ATL1):c.1501C>G (p.Arg501Gly)Hereditary spastic paraplegia 3A [RCV001877330]uncertain significance145062841250628412Human1name
151720182CV1437155single nucleotide variantNM_015915.5(ATL1):c.1263G>C (p.Leu421Phe)Hereditary spastic paraplegia 3A [RCV002035784]uncertain significance145062817450628174Human1name
151808254CV1457636single nucleotide variantNM_015915.5(ATL1):c.1631C>T (p.Thr544Ile)Hereditary spastic paraplegia 3A [RCV001936422]uncertain significance145063229350632293Human1name
151711107CV1472029single nucleotide variantNM_015915.5(ATL1):c.1640C>T (p.Ser547Leu)Hereditary spastic paraplegia 3A [RCV002000917]uncertain significance145063230250632302Human1name
151790766CV1483958single nucleotide variantNM_015915.5(ATL1):c.1663A>G (p.Lys555Glu)Hereditary spastic paraplegia 3A [RCV001903600]uncertain significance145063232550632325Human1name
151807764CV1493424single nucleotide variantNM_015915.5(ATL1):c.1191A>C (p.Glu397Asp)Hereditary spastic paraplegia 3A [RCV001935360]uncertain significance145062810250628102Human1name
151717650CV1495586single nucleotide variantNM_015915.5(ATL1):c.1323C>G (p.Ile441Met)Hereditary spastic paraplegia 3A [RCV002026877]uncertain significance145062823450628234Human1name
151770602CV1512828single nucleotide variantNM_015915.5(ATL1):c.1519A>G (p.Ile507Val)Hereditary spastic paraplegia 3A [RCV001866802]|Inborn genetic diseases [RCV003375376]|not provided [RCV005001242]uncertain significance145062843050628430Human2name
152980657CV1676042single nucleotide variantNM_015915.5(ATL1):c.1288A>C (p.Ile430Leu)Hereditary spastic paraplegia 3A [RCV003101322]|not provided [RCV002245111]uncertain significance145062819950628199Human1name
152999470CV1679825single nucleotide variantNM_015915.5(ATL1):c.1027C>G (p.His343Asp)Hereditary spastic paraplegia 3A [RCV002251214]uncertain significance145062187950621879Human1name
153304589CV1687151single nucleotide variantNM_015915.5(ATL1):c.1556G>C (p.Ser519Thr)not provided [RCV002262439]uncertain significance145062999950629999Humanname
153348427CV1692464single nucleotide variantNM_015915.5(ATL1):c.1018G>A (p.Glu340Lys)Neurodevelopmental delay [RCV002274317]likely pathogenic145062187050621870Human1name
153348428CV1692465single nucleotide variantNM_015915.5(ATL1):c.1031C>A (p.Pro344His)Neurodevelopmental delay [RCV002274318]likely pathogenic145062188350621883Human1name
155266733CV1699291single nucleotide variantNM_015915.5(ATL1):c.1508T>C (p.Leu503Pro)not provided [RCV002283086]uncertain significance145062841950628419Humanname
155643482CV1707867single nucleotide variantNM_015915.5(ATL1):c.1358T>C (p.Val453Ala)Hereditary spastic paraplegia 3A [RCV002289328]uncertain significance145062826950628269Human1name
155666570CV1773384single nucleotide variantNM_015915.5(ATL1):c.1070T>C (p.Leu357Ser)ATL1-related disorder [RCV003403782]|Hereditary spastic paraplegia 3A [RCV002297096]uncertain significance145062319950623199Human1name , trait , alternate_id
155672082CV1773978single nucleotide variantNM_015915.5(ATL1):c.1674G>A (p.Met558Ile)Hereditary spastic paraplegia 3A [RCV002297548]uncertain significance145063233650632336Human1name
155742997CV1777459single nucleotide variantNM_015915.5(ATL1):c.1673T>G (p.Met558Arg)Hereditary spastic paraplegia 3A [RCV002302960]uncertain significance145063233550632335Human1name
155714510CV1815311single nucleotide variantNM_015915.5(ATL1):c.1232A>C (p.Glu411Ala)Inborn genetic diseases [RCV002362133]uncertain significance145062814350628143Human1name
155720361CV1830730single nucleotide variantNM_015915.5(ATL1):c.1572G>C (p.Leu524Phe)Hereditary spastic paraplegia 3A [RCV003774391]|Inborn genetic diseases [RCV002405673]uncertain significance145063223450632234Human2name
155702577CV1837659single nucleotide variantNM_015915.5(ATL1):c.1612T>A (p.Tyr538Asn)Hereditary spastic paraplegia 3A [RCV003611608]|Inborn genetic diseases [RCV002394847]uncertain significance145063227450632274Human2name
155671849CV1852230single nucleotide variantNM_015915.5(ATL1):c.1109A>G (p.Lys370Arg)Inborn genetic diseases [RCV002437275]uncertain significance145062323850623238Human1name
155795447CV1861305single nucleotide variantNM_015915.5(ATL1):c.1445G>T (p.Gly482Val)not provided [RCV002469587]uncertain significance145062835650628356Humanname
156330142CV1884302single nucleotide variantNM_015915.5(ATL1):c.1309G>A (p.Asp437Asn)Hereditary spastic paraplegia 3A [RCV003089743]uncertain significance145062822050628220Human1name
156412005CV1890263single nucleotide variantNM_015915.5(ATL1):c.1336C>T (p.Arg446Cys)Hereditary spastic paraplegia 3A [RCV003072717]uncertain significance145062824750628247Human1name
156204931CV1913103single nucleotide variantNM_015915.5(ATL1):c.1267A>G (p.Ser423Gly)Hereditary spastic paraplegia 3A [RCV002595845]uncertain significance145062817850628178Human1name
156304435CV1916326single nucleotide variantNM_015915.5(ATL1):c.1484G>A (p.Arg495Gln)Hereditary spastic paraplegia 3A [RCV002599329]|not provided [RCV005098907]likely pathogenic|uncertain significance145062839550628395Human1name
8596384CV19390single nucleotide variantNM_015915.5(ATL1):c.1222A>G (p.Met408Val)Hereditary spastic paraplegia 3A [RCV000004599]pathogenic|likely pathogenic145062813350628133Human1name
8596385CV19391single nucleotide variantNM_015915.5(ATL1):c.1243C>T (p.Arg415Trp)Hereditary spastic paraplegia 3A [RCV000004600]|Inborn genetic diseases [RCV000190652]|not provided [RCV001090532]pathogenic|likely pathogenic145062815450628154Human2name
156285006CV1964546single nucleotide variantNM_015915.5(ATL1):c.1639T>G (p.Ser547Ala)Hereditary spastic paraplegia 3A [RCV002577605]uncertain significance145063230150632301Human1name
156417448CV1966958single nucleotide variantNM_015915.5(ATL1):c.1337G>A (p.Arg446His)Hereditary spastic paraplegia 3A [RCV002590195]uncertain significance145062824850628248Human1name
156013796CV2038463single nucleotide variantNM_015915.5(ATL1):c.1208G>A (p.Arg403Gln)Hereditary spastic paraplegia 3A [RCV002780286]uncertain significance145062811950628119Human1name
155956819CV2087036single nucleotide variantNM_015915.5(ATL1):c.1214T>G (p.Val405Gly)Hereditary spastic paraplegia 3A [RCV002862650]likely pathogenic145062812550628125Human1name
155986963CV2097920single nucleotide variantNM_015915.5(ATL1):c.1101C>A (p.Tyr367Ter)Hereditary spastic paraplegia 3A [RCV002882206]pathogenic145062323050623230Human1name
156335574CV2099427single nucleotide variantNM_015915.5(ATL1):c.1415T>G (p.Ile472Ser)Hereditary spastic paraplegia 3A [RCV002900182]uncertain significance145062832650628326Human1name
156302548CV2146381single nucleotide variantNM_015915.5(ATL1):c.1665G>T (p.Lys555Asn)Hereditary spastic paraplegia 3A [RCV003028164]uncertain significance145063232750632327Human1name
156107231CV2149498single nucleotide variantNM_015915.5(ATL1):c.1369A>G (p.Ile457Val)Hereditary spastic paraplegia 3A [RCV003021263]uncertain significance145062828050628280Human1name
156065615CV2170707single nucleotide variantNM_015915.5(ATL1):c.1173C>A (p.His391Gln)Hereditary spastic paraplegia 3A [RCV003019879]uncertain significance145062808450628084Human1name
156264762CV2189126single nucleotide variantNM_015915.5(ATL1):c.1134C>G (p.Asp378Glu)Hereditary spastic paraplegia 3A [RCV003044245]uncertain significance145062804550628045Human1name
10766960CV222373single nucleotide variantNM_015915.5(ATL1):c.1193C>A (p.Ser398Tyr)Hereditary spastic paraplegia 3A [RCV000203941]likely pathogenic145062810450628104Human1name
10766828CV222374single nucleotide variantNM_015915.5(ATL1):c.1483C>T (p.Arg495Trp)Hereditary spastic paraplegia 3A [RCV000203724]|Hereditary spastic paraplegia [RCV001847927]|Inborn genetic diseases [RCV000624103]|not provided [RCV000390284]pathogenic|likely pathogenic145062839450628394Human3name
243063644CV2411923single nucleotide variantNM_015915.5(ATL1):c.1602C>A (p.His534Gln)Hereditary spastic paraplegia 3A [RCV003502696]|not provided [RCV003141647]uncertain significance145063226450632264Human1name
243063643CV2411924single nucleotide variantNM_015915.5(ATL1):c.1229G>C (p.Gly410Ala)not provided [RCV003141648]uncertain significance145062814050628140Humanname
243052981CV2418065single nucleotide variantNM_015915.5(ATL1):c.1041G>T (p.Met347Ile)Hereditary spastic paraplegia 3A [RCV003153130]likely pathogenic145062189350621893Human1name
401798521CV2669603single nucleotide variantNM_015915.5(ATL1):c.1208G>C (p.Arg403Pro)Hereditary spastic paraplegia 3A [RCV003320400]likely pathogenic145062811950628119Human1name
401727668CV2736460single nucleotide variantNM_015915.5(ATL1):c.1024C>T (p.Pro342Ser)Hereditary spastic paraplegia 3A [RCV003312908]uncertain significance145062187650621876Human1name
401727670CV2736461single nucleotide variantNM_015915.5(ATL1):c.1025C>A (p.Pro342Gln)Hereditary spastic paraplegia 3A [RCV003312909]uncertain significance145062187750621877Human1name
401727671CV2736462single nucleotide variantNM_015915.5(ATL1):c.1030C>T (p.Pro344Ser)Hereditary spastic paraplegia 3A [RCV003312910]uncertain significance145062188250621882Human1name
401727672CV2736463single nucleotide variantNM_015915.5(ATL1):c.1193C>T (p.Ser398Phe)Hereditary spastic paraplegia 3A [RCV003312911]|not provided [RCV004719318]pathogenic|uncertain significance145062810450628104Human1name
401727675CV2736465single nucleotide variantNM_015915.5(ATL1):c.1237T>C (p.Phe413Leu)Hereditary spastic paraplegia 3A [RCV003312913]likely pathogenic|uncertain significance145062814850628148Human1name
401727677CV2736466single nucleotide variantNM_015915.5(ATL1):c.1237T>G (p.Phe413Val)Hereditary spastic paraplegia 3A [RCV003312914]uncertain significance145062814850628148Human1name
401727678CV2736467single nucleotide variantNM_015915.5(ATL1):c.1319A>C (p.Asn440Thr)Hereditary spastic paraplegia 3A [RCV003312915]pathogenic|uncertain significance145062823050628230Human1name
401830751CV2748324single nucleotide variantNM_015915.5(ATL1):c.1430G>C (p.Cys477Ser)Hereditary spastic paraplegia 3A [RCV005061277]|not provided [RCV003329933]uncertain significance145062834150628341Human1name
401902009CV2810416single nucleotide variantNM_015915.5(ATL1):c.1269T>G (p.Ser423Arg)not provided [RCV003393427]uncertain significance145062818050628180Humanname
402469879CV2882212single nucleotide variantNM_015915.5(ATL1):c.1037C>T (p.Ser346Phe)Hereditary spastic paraplegia 3A [RCV003504241]uncertain significance145062188950621889Human1name
402471277CV2894803single nucleotide variantNM_015915.5(ATL1):c.1221G>C (p.Lys407Asn)Hereditary spastic paraplegia 3A [RCV003504578]uncertain significance145062813250628132Human1name
402471273CV2894804single nucleotide variantNM_015915.5(ATL1):c.1376A>G (p.Tyr459Cys)Hereditary spastic paraplegia 3A [RCV003504579]likely pathogenic145062828750628287Human1name
405131796CV2906793single nucleotide variantNM_015915.5(ATL1):c.1079T>G (p.Val360Gly)Hereditary spastic paraplegia 3A [RCV003502217]uncertain significance145062320850623208Human1name
405134240CV2915655single nucleotide variantNM_015915.5(ATL1):c.1129G>A (p.Gly377Ser)Hereditary spastic paraplegia 3A [RCV003502473]uncertain significance145062804050628040Human1name
405079732CV2988517single nucleotide variantNM_015915.5(ATL1):c.1144C>G (p.Leu382Val)Hereditary spastic paraplegia 3A [RCV003612809]uncertain significance145062805550628055Human1name
405062636CV3052042single nucleotide variantNM_015915.5(ATL1):c.1423A>G (p.Ser475Gly)Hereditary spastic paraplegia 3A [RCV003611467]uncertain significance145062833450628334Human1name
405081930CV3072401single nucleotide variantNM_015915.5(ATL1):c.1097C>T (p.Thr366Ile)Hereditary spastic paraplegia 3A [RCV003612999]uncertain significance145062322650623226Human1name
405072602CV3072825single nucleotide variantNM_015915.5(ATL1):c.1259A>C (p.Gln420Pro)Hereditary spastic paraplegia 3A [RCV003612268]uncertain significance145062817050628170Human1name
405186383CV3156388single nucleotide variantNM_015915.5(ATL1):c.1552G>A (p.Gly518Arg)Hereditary spastic paraplegia 3A [RCV003859266]uncertain significance145062999550629995Human1name
405854085CV3393762single nucleotide variantNM_015915.5(ATL1):c.1370T>C (p.Ile457Thr)not provided [RCV004546988]uncertain significance145062828150628281Humanname
407525396CV3485137single nucleotide variantNM_015915.5(ATL1):c.1616A>C (p.His539Pro)Inborn genetic diseases [RCV004679224]uncertain significance145063227850632278Human1name
407505026CV3485190single nucleotide variantNM_015915.5(ATL1):c.1553G>C (p.Gly518Ala)Inborn genetic diseases [RCV004670673]uncertain significance145062999650629996Human1name
408389583CV3524626single nucleotide variantNM_015915.5(ATL1):c.1237T>A (p.Phe413Ile)not provided [RCV004769521]uncertain significance145062814850628148Humanname
596932740CV3539367single nucleotide variantNM_015915.5(ATL1):c.1469C>T (p.Thr490Ile)not provided [RCV004793991]uncertain significance145062838050628380Humanname
596926596CV3542215single nucleotide variantNM_015915.5(ATL1):c.1006T>C (p.Tyr336His)Hereditary spastic paraplegia 3A [RCV004796429]uncertain significance145062185850621858Human1name
12841017CV373862single nucleotide variantNM_015915.5(ATL1):c.1651G>T (p.Glu551Ter)not provided [RCV000431827]uncertain significance145063231350632313Humanname
12838554CV374245single nucleotide variantNM_015915.5(ATL1):c.1078G>A (p.Val360Met)Hereditary spastic paraplegia 3A [RCV000647932]|Inborn genetic diseases [RCV002418324]|not provided [RCV001721415]likely pathogenic|likely benign|uncertain significance145062320750623207Human2name
12836874CV374247single nucleotide variantNM_015915.5(ATL1):c.1173C>G (p.His391Gln)Hereditary spastic paraplegia 3A [RCV002526338]|not provided [RCV000424185]uncertain significance145062808450628084Human1name
12845994CV376079single nucleotide variantNM_015915.5(ATL1):c.1105A>C (p.Lys369Gln)Inborn genetic diseases [RCV002429452]|not provided [RCV000440807]uncertain significance145062323450623234Human1name
597925081CV3778137single nucleotide variantNM_015915.5(ATL1):c.1435A>T (p.Met479Leu)Hereditary spastic paraplegia 3A [RCV005130861]uncertain significance145062834650628346Human1name
597962794CV3819452single nucleotide variantNM_015915.5(ATL1):c.1605A>C (p.Arg535Ser)Hereditary spastic paraplegia 3A [RCV005164168]uncertain significance145063226750632267Human1name
597832505CV3831263single nucleotide variantNM_015915.5(ATL1):c.1637A>G (p.Lys546Arg)Hereditary spastic paraplegia 3A [RCV005170466]uncertain significance145063229950632299Human1name
597959668CV3843425single nucleotide variantNM_015915.5(ATL1):c.1064A>C (p.Asn355Thr)Hereditary spastic paraplegia 3A [RCV005192460]uncertain significance145062319350623193Human1name
597950262CV3846750single nucleotide variantNM_015915.5(ATL1):c.1523A>C (p.Asp508Ala)Hereditary spastic paraplegia 3A [RCV005189921]uncertain significance145062843450628434Human1name
597967954CV3853316single nucleotide variantNM_015915.5(ATL1):c.1138C>A (p.Pro380Thr)Hereditary spastic paraplegia 3A [RCV005194958]uncertain significance145062804950628049Human1name
597935922CV3858932single nucleotide variantNM_015915.5(ATL1):c.1008T>G (p.Tyr336Ter)Hereditary spastic paraplegia 3A [RCV005207653]pathogenic145062186050621860Human1name
597931893CV3863296single nucleotide variantNM_015915.5(ATL1):c.1013G>A (p.Gly338Asp)Hereditary spastic paraplegia 3A [RCV005206822]uncertain significance145062186550621865Human1name
8568445CV39536single nucleotide variantNM_015915.5(ATL1):c.1065C>A (p.Asn355Lys)Charcot-Marie-Tooth disease [RCV000789726]|Neuropathy, hereditary sensory, type 1D [RCV000023542]|Penetrating foot ulcers [RCV000626932]pathogenic|uncertain significance145062319450623194Human6name
8602261CV39539single nucleotide variantNM_015915.5(ATL1):c.1246C>T (p.Arg416Cys)Hereditary spastic paraplegia 3A [RCV000023545]|Hereditary spastic paraplegia [RCV001847621]|Inborn genetic diseases [RCV002513195]|Neuropathy, hereditary sensory, type 1D [RCV004767019]|not provided [RCV002285257]pathogenic|likely pathogenic145062815750628157Human4name
616939538CV4014033single nucleotide variantNM_015915.5(ATL1):c.1249T>A (p.Tyr417Asn)not provided [RCV005413525]uncertain significance145062816050628160Humanname
616939840CV4014443single nucleotide variantNM_015915.5(ATL1):c.1378G>A (p.Val460Met)not provided [RCV005413937]uncertain significance145062828950628289Humanname
616935525CV4016089single nucleotide variantNM_015915.5(ATL1):c.1390G>A (p.Val464Met)not provided [RCV005414955]uncertain significance145062830150628301Humanname
12893677CV409129single nucleotide variantNM_015915.5(ATL1):c.1225G>T (p.Gly409Cys)Hereditary spastic paraplegia 3A [RCV002526601]|not provided [RCV000479836]pathogenic|likely pathogenic145062813650628136Human1name
13469973CV441649single nucleotide variantNM_015915.5(ATL1):c.1228G>A (p.Gly410Arg)Hereditary spastic paraplegia 3A [RCV002527456]|not provided [RCV000516661]pathogenic|likely pathogenic145062813950628139Human1name
13478885CV445236single nucleotide variantNM_015915.5(ATL1):c.1204T>C (p.Phe402Leu)Hereditary spastic paraplegia 3A [RCV002248755]|not provided [RCV000520804]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity145062811550628115Human1name
13490840CV463293single nucleotide variantNM_015915.5(ATL1):c.1057G>A (p.Glu353Lys)Hereditary spastic paraplegia 3A [RCV000556273]likely pathogenic|uncertain significance145062318650623186Human1name
13467534CV463302single nucleotide variantNM_015915.5(ATL1):c.1275A>G (p.Ile425Met)Hereditary spastic paraplegia 3A [RCV000543969]uncertain significance145062818650628186Human1name
13484163CV463803single nucleotide variantNM_015915.5(ATL1):c.1213G>A (p.Val405Met)Hereditary spastic paraplegia 3A [RCV000530204]|not provided [RCV004767372]uncertain significance145062812450628124Human1name
13494267CV463808single nucleotide variantNM_015915.5(ATL1):c.1379T>A (p.Val460Glu)Hereditary spastic paraplegia 3A [RCV000558776]uncertain significance145062829050628290Human1name
13612517CV514044single nucleotide variantNM_015915.4(ATL1):c.1065C>A (p.Asn355Lys)Penetrating foot ulcers [RCV000626932]pathogenic145062319450623194Human1name
13620983CV528207single nucleotide variantNM_015915.5(ATL1):c.1041G>A (p.Met347Ile)Hereditary spastic paraplegia 3A [RCV000647936]|not provided [RCV003483702]likely pathogenic|uncertain significance145062189350621893Human1name
13620971CV528210single nucleotide variantNM_015915.5(ATL1):c.1189G>C (p.Glu397Gln)Hereditary spastic paraplegia 3A [RCV000647928]uncertain significance145062810050628100Human1name
13620980CV528213single nucleotide variantNM_015915.5(ATL1):c.1556G>A (p.Ser519Asn)Hereditary spastic paraplegia 3A [RCV000647935]|Hereditary spastic paraplegia 3A [RCV003483701]uncertain significance|not provided145062999950629999Human1name
13620975CV528569single nucleotide variantNM_015915.5(ATL1):c.1024C>G (p.Pro342Ala)Hereditary spastic paraplegia 3A [RCV000647931]conflicting interpretations of pathogenicity|uncertain significance145062187650621876Human1name
13794491CV552176single nucleotide variantNM_015915.5(ATL1):c.1206C>A (p.Phe402Leu)Hereditary spastic paraplegia 3A [RCV000679930]uncertain significance145062811750628117Human1name
13794492CV552177single nucleotide variantNM_015915.5(ATL1):c.1222A>T (p.Met408Leu)Hereditary spastic paraplegia 3A [RCV000679931]uncertain significance145062813350628133Human1name
13821840CV568939single nucleotide variantNM_015915.5(ATL1):c.1546G>A (p.Asp516Asn)Hereditary spastic paraplegia 3A [RCV000696450]|not provided [RCV000755830]uncertain significance145062845750628457Human1name
14396817CV612988single nucleotide variantNM_015915.5(ATL1):c.1308T>A (p.Asn436Lys)not provided [RCV000761874]likely pathogenic145062821950628219Humanname
14711685CV642488single nucleotide variantNM_015915.5(ATL1):c.1048G>A (p.Ala350Thr)Hereditary spastic paraplegia 3A [RCV000810038]pathogenic|uncertain significance145062317750623177Human1name
14712476CV642489single nucleotide variantNM_015915.5(ATL1):c.1068T>A (p.Asn356Lys)Hereditary spastic paraplegia 3A [RCV000793809]likely pathogenic145062319750623197Human1name
14727433CV642490single nucleotide variantNM_015915.5(ATL1):c.1160T>C (p.Leu387Ser)Hereditary spastic paraplegia 3A [RCV000816079]|not provided [RCV001547425]pathogenic|likely pathogenic|uncertain significance145062807150628071Human1name
14703449CV642491single nucleotide variantNM_015915.5(ATL1):c.1259A>G (p.Gln420Arg)Hereditary spastic paraplegia 3A [RCV000807382]uncertain significance145062817050628170Human1name
14728661CV642492single nucleotide variantNM_015915.5(ATL1):c.1334C>T (p.Ala445Val)Hereditary spastic paraplegia 3A [RCV000800152]uncertain significance145062824550628245Human1name
14711697CV642493single nucleotide variantNM_015915.5(ATL1):c.1414A>G (p.Ile472Val)Hereditary spastic paraplegia 3A [RCV000810041]uncertain significance145062832550628325Human1name
14712976CV642494single nucleotide variantNM_015915.5(ATL1):c.1488C>A (p.Tyr496Ter)Hereditary spastic paraplegia 3A [RCV000793973]pathogenic|uncertain significance145062839950628399Human1name
14743537CV642495single nucleotide variantNM_015915.5(ATL1):c.1502G>C (p.Arg501Pro)Hereditary spastic paraplegia 3A [RCV000823500]uncertain significance145062841350628413Human1name
14732815CV642496single nucleotide variantNM_015915.5(ATL1):c.1573T>C (p.Tyr525His)Hereditary spastic paraplegia 3A [RCV000802025]uncertain significance145063223550632235Human1name
8617538CV71462single nucleotide variantNM_015915.5(ATL1):c.1244G>A (p.Arg415Gln)Hereditary spastic paraplegia 3A [RCV000050231]|not provided [RCV000480817]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance145062815550628155Human1name
21072588CV791411single nucleotide variantNM_015915.5(ATL1):c.1223T>C (p.Met408Thr)Hereditary spastic paraplegia 3A [RCV000989219]|not provided [RCV001585898]pathogenic145062813450628134Human1name
21068026CV793502single nucleotide variantNM_015915.5(ATL1):c.1040T>C (p.Met347Thr)Hereditary spastic paraplegia 3A [RCV003311931]|not provided [RCV000993058]pathogenic|uncertain significance145062189250621892Human1name
21074481CV797035single nucleotide variantNM_015915.5(ATL1):c.1055C>A (p.Ala352Glu)not provided [RCV000995174]likely pathogenic145062318450623184Humanname
25327659CV816001single nucleotide variantNM_015915.5(ATL1):c.1216A>G (p.Lys406Glu)Hereditary spastic paraplegia 3A [RCV001027705]likely pathogenic145062812750628127Human1name
26892624CV841545single nucleotide variantNM_015915.5(ATL1):c.1030C>A (p.Pro344Thr)Hereditary spastic paraplegia 3A [RCV001068765]uncertain significance145062188250621882Human1name
26923528CV841546single nucleotide variantNM_015915.5(ATL1):c.1247G>A (p.Arg416His)Hereditary spastic paraplegia 3A [RCV001064153]|Inborn genetic diseases [RCV002393313]|not provided [RCV001593242]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance145062815850628158Human2name
26923087CV841547single nucleotide variantNM_015915.5(ATL1):c.1355T>C (p.Phe452Ser)Hereditary spastic paraplegia 3A [RCV001063282]|Hereditary spastic paraplegia 3A [RCV005012515]|not provided [RCV002462308]uncertain significance145062826650628266Human1name
26902005CV841548single nucleotide variantNM_015915.5(ATL1):c.1673T>C (p.Met558Thr)Hereditary spastic paraplegia 3A [RCV001071748]uncertain significance145063233550632335Human1name
28877911CV860108single nucleotide variantNM_015915.5(ATL1):c.1226G>A (p.Gly409Asp)Hereditary spastic paraplegia 3A [RCV003502587]|Hereditary spastic paraplegia [RCV001847151]|not provided [RCV001090531]pathogenic|conflicting interpretations of pathogenicity|uncertain significance145062813750628137Human2name
38458147CV948579single nucleotide variantNM_015915.5(ATL1):c.1142T>A (p.Phe381Tyr)Hereditary spastic paraplegia 3A [RCV001228830]uncertain significance145062805350628053Human1name
38469489CV948580single nucleotide variantNM_015915.5(ATL1):c.1295A>G (p.Tyr432Cys)Hereditary spastic paraplegia 3A [RCV001230783]uncertain significance145062820650628206Human1name
38489407CV948581single nucleotide variantNM_015915.5(ATL1):c.1322T>G (p.Ile441Ser)Hereditary spastic paraplegia 3A [RCV001238403]|not provided [RCV001288450]uncertain significance145062823350628233Human1name
38476017CV948582single nucleotide variantNM_015915.5(ATL1):c.1330G>T (p.Ala444Ser)Hereditary spastic paraplegia 3A [RCV001232886]|not provided [RCV001760239]uncertain significance145062824150628241Human1name
38470229CV948583single nucleotide variantNM_015915.5(ATL1):c.1673T>A (p.Met558Lys)Hereditary spastic paraplegia 3A [RCV001230923]|not provided [RCV003227012]uncertain significance145063233550632335Human1name
38468322CV957232single nucleotide variantNM_015915.5(ATL1):c.1314C>G (p.Ser438Arg)Hereditary spastic paraplegia 3A [RCV001248013]|not provided [RCV004769967]uncertain significance145062822550628225Human1name
38598227CV964416single nucleotide variantNM_015915.5(ATL1):c.1634C>T (p.Pro545Leu)Neuropathy, hereditary sensory, type 1D [RCV001253483]uncertain significance145063229650632296Human1name
40814803CV970144single nucleotide variantNM_015915.5(ATL1):c.1472G>A (p.Trp491Ter)Hereditary spastic paraplegia 3A [RCV001261529]pathogenic145062838350628383Human1name
40887947CV973926single nucleotide variantNM_015915.5(ATL1):c.1220A>T (p.Lys407Met)Hereditary spastic paraplegia 3A [RCV001391396]|Inborn genetic diseases [RCV001267476]pathogenic|likely pathogenic145062813150628131Human2name
127233992CV977103single nucleotide variantNM_015915.5(ATL1):c.1065C>G (p.Asn355Lys)Hereditary spastic paraplegia 3A [RCV001391394]pathogenic145062319450623194Human1name
127234100CV977105single nucleotide variantNM_015915.5(ATL1):c.1306A>G (p.Asn436Asp)Hereditary spastic paraplegia 3A [RCV001391448]pathogenic|conflicting interpretations of pathogenicity145062821750628217Human1name
127234103CV977106single nucleotide variantNM_015915.5(ATL1):c.1543T>C (p.Trp515Arg)Hereditary spastic paraplegia 3A [RCV001391449]pathogenic145062845450628454Human1name
126727757CV995864single nucleotide variantNM_015915.5(ATL1):c.1157A>G (p.Asp386Gly)Hereditary spastic paraplegia 3A [RCV001303229]uncertain significance145062806850628068Human1name
126758924CV995865single nucleotide variantNM_015915.5(ATL1):c.1274T>C (p.Ile425Thr)Hereditary spastic paraplegia 3A [RCV001299340]|not provided [RCV004720840]uncertain significance145062818550628185Human1name
14734637CV667670insertionNM_015915.5(ATL1):c.1119+136_1119+137insATNeuropathy, hereditary sensory, type 1D [RCV001554130]|not provided [RCV000837646]benign145062338450623385Human1name
8627529CV82673single nucleotide variantNM_001127713.1(ATL1):c.794C>T (p.Ser265Phe)Malignant melanoma [RCV000062753]not provided145061444350614443Humanname
405701198CV3279955microsatelliteNM_015915.5(ATL1):c.1614TCA[1] (p.His539del)Inborn genetic diseases [RCV004425437]uncertain significance145063227550632277Humanname
13520340CV495758insertionNM_015915.5(ATL1):c.781_782insA (p.Phe261fs)Hereditary spastic paraplegia 3A [RCV000810980]|not provided [RCV000598554]pathogenic|conflicting interpretations of pathogenicity|uncertain significance145061443050614431Human1name
21074912CV798676microsatelliteNM_015915.5(ATL1):c.1217AGA[1] (p.Lys407del)Hereditary spastic paraplegia 3A [RCV000995703]|Hereditary spastic paraplegia [RCV001847131]|not provided [RCV002307651]pathogenic|likely pathogenic145062812650628128Humanname
8627530CV82674single nucleotide variantNM_001127713.1(ATL1):c.1189G>A (p.Glu397Lys)Malignant melanoma [RCV000062754]not provided145062810050628100Humanname
151713990CV1442995microsatelliteNM_015915.5(ATL1):c.1505_1506del (p.Glu502fs)Hereditary spastic paraplegia 3A [RCV002013922]uncertain significance145062841350628414Humanname
401727680CV2736468microsatelliteNM_015915.5(ATL1):c.1465_1466dup (p.Thr490fs)Hereditary spastic paraplegia 3A [RCV003312916]uncertain significance145062837350628374Humanname
405080598CV2989782deletionNM_015915.5(ATL1):c.1030_1040del (p.Pro344fs)Hereditary spastic paraplegia 3A [RCV003612879]pathogenic145062187950621889Human1name
14716218CV667356insertionNM_015915.5(ATL1):c.1552-103_1552-102insTTCTTnot provided [RCV000829654]benign145062989250629893Humanname
8558039CV19393deletionNM_015915.5(ATL1):c.1306_1308del (p.Asn436del)Hereditary spastic paraplegia 3A [RCV000004602]|Hereditary spastic paraplegia [RCV001847580]pathogenic|likely pathogenic145062821750628219Human2name
156247662CV2168749deletionNM_015915.5(ATL1):c.1021_1023del (p.Leu341del)Hereditary spastic paraplegia 3A [RCV003026230]likely pathogenic145062187250621874Human1name
597830930CV3743663microsatelliteNM_015915.5(ATL1):c.56_57del (p.Thr18_Tyr19insTer)Hereditary spastic paraplegia 3A [RCV005062480]pathogenic145058785050587851Humanname
150529615CV1292895deletionNM_015915.5(ATL1):c.1516del (p.Ala505_Val506insTer)Hereditary spastic paraplegia 3A [RCV005094925]|not provided [RCV001756288]pathogenic|uncertain significance145062842750628427Human1name