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1001 records found for search term Spg7
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8559560CV21849deletionSPG7, 2-BP DEL, NT784Hereditary spastic paraplegia 7 [RCV000007212]pathogenicHumanname
8559561CV21850insertionSPG7, 1-BP INS, 2228AHereditary spastic paraplegia 7 [RCV000007213]pathogenicHumanname
8559565CV21856deletionSPG7, 1-BP DEL, 1616CHereditary spastic paraplegia 7 [RCV000007219]pathogenicHumanname
11544949CV255964single nucleotide variantNM_003119.4(SPG7):c.*7G>Anot specified [RCV000244479]likely benign168955710089557100Humanname
11613778CV326826single nucleotide variantNM_003119.4(SPG7):c.*33C>THereditary spastic paraplegia 7 [RCV000271636]|not provided [RCV001618564]benign|likely benign168955712689557126Human1name
11653394CV336704single nucleotide variantNM_003119.4(SPG7):c.*97G>AHereditary spastic paraplegia 7 [RCV000310532]uncertain significance168955719089557190Human1name
11630969CV344563single nucleotide variantNM_003119.4(SPG7):c.*11T>AHereditary spastic paraplegia 7 [RCV000363868]uncertain significance168955710489557104Human1name
28887894CV876197single nucleotide variantNM_003119.4(SPG7):c.*24C>THereditary spastic paraplegia 7 [RCV001119768]uncertain significance168955711789557117Human1name
28887897CV876198single nucleotide variantNM_003119.4(SPG7):c.*99G>AHereditary spastic paraplegia 7 [RCV001119769]uncertain significance168955719289557192Human1name
150335532CV1172927single nucleotide variantNM_003119.4(SPG7):c.*122T>Cnot provided [RCV001540609]likely benign168955721589557215Humanname
150412810CV1178094single nucleotide variantNM_003119.4(SPG7):c.*106A>Gnot provided [RCV001547613]likely benign168955719989557199Humanname
150499110CV1209029single nucleotide variantNM_003119.4(SPG7):c.*118A>Gnot provided [RCV001594246]likely benign168955721189557211Humanname
11624491CV336707single nucleotide variantNM_003119.4(SPG7):c.*656G>CHereditary spastic paraplegia 7 [RCV000386476]likely benign|uncertain significance168955774989557749Human1name
11619266CV342929single nucleotide variantNM_003119.4(SPG7):c.*362C>THereditary spastic paraplegia 7 [RCV000323374]likely benign|uncertain significance168955745589557455Human1name
11661195CV342933duplicationNM_003119.4(SPG7):c.*524dupSpastic Paraplegia, Recessive [RCV000374122]uncertain significance168955761689557617Human1name
11621424CV342935single nucleotide variantNM_003119.4(SPG7):c.*592C>THereditary spastic paraplegia 7 [RCV000348309]likely benign|uncertain significance168955768589557685Human1name
11630746CV344565single nucleotide variantNM_003119.4(SPG7):c.*140G>THereditary spastic paraplegia 7 [RCV000358365]|not provided [RCV001572048]likely benign|uncertain significance168955723389557233Human1name
11626574CV344572single nucleotide variantNM_003119.4(SPG7):c.*195C>THereditary spastic paraplegia 7 [RCV000266010]|not provided [RCV001590955]likely benign|uncertain significance168955728889557288Human1name
11631525CV344574single nucleotide variantNM_003119.4(SPG7):c.*398G>AHereditary spastic paraplegia 7 [RCV000379835]uncertain significance168955749189557491Human1name
11626202CV344576single nucleotide variantNM_003119.4(SPG7):c.*432G>AHereditary spastic paraplegia 7 [RCV000259542]uncertain significance168955752589557525Human1name
11627409CV344577single nucleotide variantNM_003119.4(SPG7):c.*587G>AHereditary spastic paraplegia 7 [RCV000281694]likely benign|uncertain significance168955768089557680Human1name
25320582CV806285deletionNM_003119.4(SPG7):c.1939delHereditary spastic paraplegia 7 [RCV001860602]|not provided [RCV001009230]pathogenic168955379389553793Human1name
28887900CV876199single nucleotide variantNM_003119.4(SPG7):c.*222G>AHereditary spastic paraplegia 7 [RCV001119770]uncertain significance168955731589557315Human1name
28893542CV876200single nucleotide variantNM_003119.4(SPG7):c.*341A>GHereditary spastic paraplegia 7 [RCV001121747]uncertain significance168955743489557434Human1name
28893547CV876201single nucleotide variantNM_003119.4(SPG7):c.*441T>CHereditary spastic paraplegia 7 [RCV001121748]likely benign168955753489557534Human1name
28893550CV876202single nucleotide variantNM_003119.4(SPG7):c.*483A>GHereditary spastic paraplegia 7 [RCV001121749]uncertain significance168955757689557576Human1name
28893554CV876203single nucleotide variantNM_003119.4(SPG7):c.*549A>CHereditary spastic paraplegia 7 [RCV001121750]likely benign168955764289557642Human1name
127250182CV1056364single nucleotide variantNM_003119.4(SPG7):c.286+1G>THereditary spastic paraplegia 7 [RCV001378304]likely pathogenic168951059389510593Human1name
127232522CV1082582single nucleotide variantNM_003119.4(SPG7):c.988-6G>AHereditary spastic paraplegia 7 [RCV001413495]likely benign168953189889531898Human1name
150465022CV1201007duplicationNM_003119.4(SPG7):c.184-4dupnot provided [RCV001587487]likely benign168951047189510472Humanname
151753804CV1335842single nucleotide variantNM_003119.4(SPG7):c.618+8A>GHereditary spastic paraplegia 7 [RCV002074410]|Hereditary spastic paraplegia [RCV001848242]likely benign|uncertain significance168952425589524255Human2name
151882560CV1383835single nucleotide variantNM_003119.4(SPG7):c.987+5A>CHereditary spastic paraplegia 7 [RCV001886752]|not provided [RCV004793571]uncertain significance168953081389530813Human1name
151818343CV1482095single nucleotide variantNM_003119.4(SPG7):c.988-3C>THereditary spastic paraplegia 7 [RCV002029643]uncertain significance168953190189531901Human1name
151730100CV1515925single nucleotide variantNM_003119.4(SPG7):c.286+3A>GHereditary spastic paraplegia 7 [RCV001984106]|not provided [RCV004694099]uncertain significance168951059589510595Human1name
155966335CV2134878single nucleotide variantNM_003119.4(SPG7):c.759-5G>AHereditary spastic paraplegia 7 [RCV002972633]|not provided [RCV004721094]uncertain significance168952947289529472Human1name
10766702CV213916single nucleotide variantNM_003119.4(SPG7):c.988-1G>AHereditary spastic paraplegia 7 [RCV000206709]|Hereditary spastic paraplegia [RCV001847907]|SPG7-related disorder [RCV003897433]|not provided [RCV005230073]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity168953190389531903Human2name , alternate_id
156148017CV2212877single nucleotide variantNM_003119.4(SPG7):c.619-3C>TInborn genetic diseases [RCV002697466]uncertain significance168952632689526326Human1name
329351924CV2476657single nucleotide variantNM_003119.4(SPG7):c.861+8C>Gnot provided [RCV003222889]uncertain significance168952958789529587Humanname
11550314CV255959single nucleotide variantNM_003119.4(SPG7):c.987+5A>GHereditary spastic paraplegia 7 [RCV000576601]|not provided [RCV001706335]|not specified [RCV000251593]benign168953081389530813Human1name
401867744CV2749048single nucleotide variantNM_003119.4(SPG7):c.376+2T>AHereditary spastic paraplegia 7 [RCV003331873]likely pathogenic168951303989513039Human1name
405265883CV3220950single nucleotide variantNM_003119.4(SPG7):c.184-3C>ASPG7-related disorder [RCV003969106]|not provided [RCV004697329]likely benign|uncertain significance168951048789510487Human1name , alternate_id
405746318CV3226389single nucleotide variantNM_003119.4(SPG7):c.377-7G>AHereditary spastic paraplegia 7 [RCV003991380]uncertain significance168952399989523999Human1name
408394803CV3395439single nucleotide variantNM_003119.4(SPG7):c.862-3C>THereditary spastic paraplegia 7 [RCV004765071]uncertain significance168953068089530680Human1name
596927385CV3536674single nucleotide variantNM_003119.4(SPG7):c.988-7C>THereditary spastic paraplegia 7 [RCV004790084]uncertain significance168953189789531897Human1name
596944805CV3543503single nucleotide variantNM_003119.4(SPG7):c.287-1G>Cnot provided [RCV004801625]likely pathogenic168951294789512947Humanname
597758859CV3711972single nucleotide variantNM_003119.4(SPG7):c.987+2T>CHereditary spastic paraplegia 7 [RCV005017895]likely pathogenic168953081089530810Human1name
597962839CV3819464single nucleotide variantNM_003119.4(SPG7):c.286+4T>AHereditary spastic paraplegia 7 [RCV005164180]uncertain significance168951059689510596Human1name
597869916CV3839312single nucleotide variantNM_003119.4(SPG7):c.618+9G>CHereditary spastic paraplegia 7 [RCV005176423]likely benign168952425689524256Human1name
12897766CV402128single nucleotide variantNM_003119.4(SPG7):c.376+1G>TEarly-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome [RCV003447529]|Hereditary spastic paraplegia 7 [RCV000467232]|not provided [RCV000522524]pathogenic|likely pathogenic168951303889513038Human2name
13485864CV466101single nucleotide variantNM_003119.4(SPG7):c.377-6G>AHereditary spastic paraplegia 7 [RCV000553416]likely benign168952400089524000Human1name
13532482CV505859single nucleotide variantNM_003119.4(SPG7):c.377-8C>THereditary spastic paraplegia 7 [RCV005056322]|not specified [RCV000606812]likely benign168952399889523998Human1name
13540105CV506628deletionNM_003119.4(SPG7):c.184-4delHereditary spastic paraplegia 7 [RCV003994045]|not provided [RCV001704832]benign168951047289510472Human1name
13609972CV530925single nucleotide variantNM_003119.4(SPG7):c.861+1G>THereditary spastic paraplegia 7 [RCV000640981]pathogenic|likely pathogenic168952958089529580Human1name
13801786CV577602single nucleotide variantNM_003119.4(SPG7):c.862-8C>Anot provided [RCV000713487]uncertain significance168953067589530675Humanname
14396402CV612180single nucleotide variantNM_003119.4(SPG7):c.861+1G>CHereditary spastic paraplegia 7 [RCV000761358]|not provided [RCV004792432]pathogenic|likely pathogenic168952958089529580Human1name
14715083CV653317single nucleotide variantNM_003119.4(SPG7):c.861+5G>AHereditary spastic paraplegia 7 [RCV000799260]|not provided [RCV000996405]uncertain significance168952958489529584Human1name
15100345CV690151single nucleotide variantNM_003119.4(SPG7):c.184-4T>CHereditary spastic paraplegia 7 [RCV000870048]likely benign|conflicting interpretations of pathogenicity168951048689510486Human1name
15099157CV690152single nucleotide variantNM_003119.4(SPG7):c.619-6C>Tnot provided [RCV000869853]likely benign168952632389526323Humanname
15105277CV690153single nucleotide variantNM_003119.4(SPG7):c.619-4C>GHereditary spastic paraplegia 7 [RCV001456340]likely benign168952632589526325Human1name
15157140CV690154single nucleotide variantNM_003119.4(SPG7):c.759-6C>THereditary spastic paraplegia 7 [RCV000868378]|Hereditary spastic paraplegia [RCV001847076]likely benign|uncertain significance168952947189529471Human2name
15122882CV695710single nucleotide variantNM_003119.4(SPG7):c.759-4G>AHereditary spastic paraplegia 7 [RCV000874491]likely benign168952947389529473Human1name
21071510CV794061single nucleotide variantNM_003119.4(SPG7):c.619-3C>GHereditary spastic paraplegia 7 [RCV002549828]|not provided [RCV000993075]uncertain significance168952632689526326Human1name
26898869CV851691single nucleotide variantNM_003119.4(SPG7):c.861+6T>CHereditary spastic paraplegia 7 [RCV001039955]conflicting interpretations of pathogenicity|uncertain significance168952958589529585Human1name
26901810CV852135duplicationNM_003119.4(SPG7):c.861+2dupHereditary spastic paraplegia 7 [RCV001060596]|not provided [RCV001548055]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance168952958089529581Human1name
28887194CV876736single nucleotide variantNM_003119.4(SPG7):c.183+7C>THereditary spastic paraplegia 7 [RCV001119556]uncertain significance168950860789508607Human1name
28893061CV876737single nucleotide variantNM_003119.4(SPG7):c.619-7C>AHereditary spastic paraplegia 7 [RCV001121555]conflicting interpretations of pathogenicity|uncertain significance168952632289526322Human1name
38488100CV941153single nucleotide variantNM_003119.4(SPG7):c.759-2A>GHereditary spastic paraplegia 7 [RCV001221055]|not provided [RCV001267934]pathogenic|likely pathogenic168952947589529475Human1name
126758815CV997241single nucleotide variantNM_003119.4(SPG7):c.758+4T>CHereditary spastic paraplegia 7 [RCV001308834]uncertain significance168952647289526472Human1name
127331263CV1125793single nucleotide variantNM_003119.4(SPG7):c.1663+9G>AHereditary spastic paraplegia 7 [RCV001471415]likely benign168954812289548122Human1name
150414827CV1178088single nucleotide variantNM_003119.4(SPG7):c.377-24C>Tnot provided [RCV001548305]likely benign168952398289523982Humanname
150427650CV1188453single nucleotide variantNM_003119.4(SPG7):c.287-70A>Cnot provided [RCV001561209]likely benign168951287889512878Humanname
150435214CV1233804single nucleotide variantNM_003119.4(SPG7):c.619-47G>AHereditary spastic paraplegia 7 [RCV001810178]|not provided [RCV001643931]benign168952628289526282Human1name
150485627CV1250268single nucleotide variantNM_003119.4(SPG7):c.619-50C>Tnot provided [RCV001673881]benign168952627989526279Humanname
150485652CV1250274single nucleotide variantNM_003119.4(SPG7):c.286+46C>THereditary spastic paraplegia 7 [RCV001810208]|not provided [RCV001673887]benign168951063889510638Human1name
150492506CV1253948single nucleotide variantNM_003119.4(SPG7):c.862-34G>THereditary spastic paraplegia 7 [RCV001810218]|not provided [RCV001675044]benign168953064989530649Human1name
150545007CV1315379single nucleotide variantNM_003119.4(SPG7):c.1324+1G>CHereditary spastic paraplegia 7 [RCV001783795]likely pathogenic168953263789532637Humanname
150545009CV1315380single nucleotide variantNM_003119.4(SPG7):c.1936+2T>AHereditary spastic paraplegia 7 [RCV001783796]likely pathogenic168955313789553137Human1name
151872820CV1339758single nucleotide variantNM_003119.4(SPG7):c.1324+2T>GHereditary spastic paraplegia 7 [RCV002035895]pathogenic|likely pathogenic168953263889532638Human1name
151761427CV1358216single nucleotide variantNM_003119.4(SPG7):c.1779+5G>THereditary spastic paraplegia 7 [RCV001928567]|not specified [RCV002246592]uncertain significance168955061489550614Human1name
8692976CV142941single nucleotide variantNM_003119.4(SPG7):c.987+19G>AHereditary spastic paraplegia 7 [RCV001518549]|not provided [RCV004709337]|not specified [RCV000128199]benign|likely benign168953082789530827Human1name
151728465CV1517526single nucleotide variantNM_003119.4(SPG7):c.377-39A>CHereditary spastic paraplegia 7 [RCV002052142]uncertain significance168952396789523967Human1name
152111180CV1537117single nucleotide variantNM_003119.4(SPG7):c.376+18T>AHereditary spastic paraplegia 7 [RCV002215510]likely benign168951305589513055Human1name
152084105CV1537357single nucleotide variantNM_003119.4(SPG7):c.861+19A>GHereditary spastic paraplegia 7 [RCV002149693]likely benign168952959889529598Human1name
152084855CV1554961single nucleotide variantNM_003119.4(SPG7):c.1553-4A>GHereditary spastic paraplegia 7 [RCV002211903]likely benign168954799989547999Human1name
152161401CV1555380single nucleotide variantNM_003119.4(SPG7):c.618+16G>AHereditary spastic paraplegia 7 [RCV002103866]likely benign168952426389524263Human1name
152095112CV1575039single nucleotide variantNM_003119.4(SPG7):c.287-15C>GHereditary spastic paraplegia 7 [RCV002132520]likely benign168951293389512933Human1name
152052725CV1607285single nucleotide variantNM_003119.4(SPG7):c.1780-7G>CHereditary spastic paraplegia 7 [RCV002109179]likely benign168955297289552972Human1name
152146348CV1615319single nucleotide variantNM_003119.4(SPG7):c.862-15G>AHereditary spastic paraplegia 7 [RCV002101534]likely benign168953066889530668Human1name
156409226CV1877751single nucleotide variantNM_003119.4(SPG7):c.183+20G>THereditary spastic paraplegia 7 [RCV003071580]likely benign168950862089508620Human1name
156370738CV1905314single nucleotide variantNM_003119.4(SPG7):c.376+12T>CHereditary spastic paraplegia 7 [RCV003092404]likely benign168951304989513049Human1name
156379107CV1968254single nucleotide variantNM_003119.4(SPG7):c.1936+8G>AHereditary spastic paraplegia 7 [RCV002603834]likely benign168955314389553143Human1name
156261741CV1977578single nucleotide variantNM_003119.4(SPG7):c.758+14A>GHereditary spastic paraplegia 7 [RCV002597803]likely benign168952648289526482Human1name
156051056CV2027325duplicationNM_003119.4(SPG7):c.183+22dupHereditary spastic paraplegia 7 [RCV002736512]likely benign168950861989508620Human1name
156186519CV2033884deletionNM_003119.4(SPG7):c.184-19delHereditary spastic paraplegia 7 [RCV002765778]likely benign168951047189510471Human1name
156118089CV2035704single nucleotide variantNM_003119.4(SPG7):c.861+18G>THereditary spastic paraplegia 7 [RCV002785675]likely benign168952959789529597Human1name
155901407CV2043601single nucleotide variantNM_003119.4(SPG7):c.988-12G>CHereditary spastic paraplegia 7 [RCV002770993]likely benign168953189289531892Human1name
156300790CV2083317single nucleotide variantNM_003119.4(SPG7):c.759-20G>CHereditary spastic paraplegia 7 [RCV002857159]likely benign168952945789529457Human1name
156216482CV2084487single nucleotide variantNM_003119.4(SPG7):c.1936+9C>THereditary spastic paraplegia 7 [RCV002853039]likely benign168955314489553144Human1name
156111322CV2088100single nucleotide variantNM_003119.4(SPG7):c.1553-4A>THereditary spastic paraplegia 7 [RCV002889202]likely benign168954799989547999Human1name
155925442CV2099539single nucleotide variantNM_003119.4(SPG7):c.2182-4C>AHereditary spastic paraplegia 7 [RCV002903547]likely benign168955688389556883Human1name
155940132CV2110649single nucleotide variantNM_003119.4(SPG7):c.862-18T>GHereditary spastic paraplegia 7 [RCV002904411]likely benign168953066589530665Human1name
10411212CV211752single nucleotide variantNM_003119.4(SPG7):c.862-16T>GHereditary spastic paraplegia 7 [RCV002054343]|not provided [RCV004709384]|not specified [RCV000199800]benign168953066789530667Human1name
156116320CV2117557single nucleotide variantNM_003119.4(SPG7):c.861+10G>AHereditary spastic paraplegia 7 [RCV002953322]likely benign168952958989529589Human1name
156205026CV2134943single nucleotide variantNM_003119.4(SPG7):c.1664-7C>AHereditary spastic paraplegia 7 [RCV002985364]likely benign168955048789550487Human1name
155961108CV2138384single nucleotide variantNM_003119.4(SPG7):c.987+11C>THereditary spastic paraplegia 7 [RCV002972389]likely benign168953081989530819Human1name
8559563CV21852indelSPG7, 2-BP DEL, 1-BP INS, 850Hereditary spastic paraplegia 7 [RCV000007215]pathogenicHumanname
11547494CV255958single nucleotide variantNM_003119.4(SPG7):c.618+12T>CHereditary spastic paraplegia 7 [RCV000602079]|not provided [RCV001711559]|not specified [RCV000247833]benign168952425989524259Human1name
401919336CV2794867single nucleotide variantNM_003119.4(SPG7):c.377-12C>Gnot specified [RCV003388542]likely benign168952399489523994Humanname
401947051CV2832174single nucleotide variantNM_003119.4(SPG7):c.1151-1G>CHereditary spastic paraplegia 7 [RCV003447699]pathogenic168953246289532462Human1name
402501704CV2890619single nucleotide variantNM_003119.4(SPG7):c.1151-7C>THereditary spastic paraplegia 7 [RCV003508800]likely benign168953245689532456Human1name
402499202CV2891863single nucleotide variantNM_003119.4(SPG7):c.1552+4C>THereditary spastic paraplegia 7 [RCV003508529]uncertain significance168954676489546764Human1name
402484556CV2903644single nucleotide variantNM_003119.4(SPG7):c.2104-1G>CHereditary spastic paraplegia 7 [RCV003506846]likely pathogenic168955448589554485Human1name
405132144CV2963486single nucleotide variantNM_003119.4(SPG7):c.988-17T>CHereditary spastic paraplegia 7 [RCV003618315]uncertain significance168953188789531887Human1name
405131473CV2971702single nucleotide variantNM_003119.4(SPG7):c.1324+7G>AHereditary spastic paraplegia 7 [RCV003618354]uncertain significance168953264389532643Human1name
405123298CV3000887single nucleotide variantNM_003119.4(SPG7):c.759-15T>GHereditary spastic paraplegia 7 [RCV003617334]uncertain significance168952946289529462Human1name
405126311CV3033663deletionNM_003119.4(SPG7):c.759-11delHereditary spastic paraplegia 7 [RCV003617710]likely benign|uncertain significance168952946489529464Human1name
405136538CV3056749single nucleotide variantNM_003119.4(SPG7):c.619-20C>GHereditary spastic paraplegia 7 [RCV003618874]likely benign168952630989526309Human1name
405136854CV3060389single nucleotide variantNM_003119.4(SPG7):c.619-10T>CHereditary spastic paraplegia 7 [RCV003618904]likely benign168952631989526319Human1name
405137078CV3068080single nucleotide variantNM_003119.4(SPG7):c.1150+9T>AHereditary spastic paraplegia 7 [RCV003618925]|not specified [RCV004783105]likely benign168953207589532075Human1name
405140547CV3078493single nucleotide variantNM_003119.4(SPG7):c.861+20G>CHereditary spastic paraplegia 7 [RCV003619019]likely benign168952959989529599Human1name
405237600CV3166627single nucleotide variantNM_003119.4(SPG7):c.183+12C>AHereditary spastic paraplegia 7 [RCV003854077]likely benign168950861289508612Human1name
11625262CV326812single nucleotide variantNM_003119.4(SPG7):c.618+14C>THereditary spastic paraplegia 7 [RCV000396965]conflicting interpretations of pathogenicity|uncertain significance168952426189524261Human1name
11618706CV326827microsatelliteNM_003119.4(SPG7):c.*490CA[3]Spastic Paraplegia, Recessive [RCV000317158]likely benign168955758289557583Humanname
408394800CV3395436single nucleotide variantNM_003119.4(SPG7):c.1779+1G>THereditary spastic paraplegia 7 [RCV004765068]pathogenic|likely pathogenic168955061089550610Human1name
596945330CV3401466duplicationNM_003119.4(SPG7):c.2181+2dupHereditary spastic paraplegia 7 [RCV004818486]likely pathogenic168955456489554565Human1name
597758874CV3711977single nucleotide variantNM_003119.4(SPG7):c.2181+1G>THereditary spastic paraplegia 7 [RCV005017898]likely pathogenic168955456489554564Human1name
597714366CV3711978single nucleotide variantNM_003119.4(SPG7):c.2181+5G>AHereditary spastic paraplegia 7 [RCV005010072]likely pathogenic168955456889554568Human1name
597837267CV3736533single nucleotide variantNM_003119.4(SPG7):c.861+18G>CHereditary spastic paraplegia 7 [RCV005064206]likely benign168952959789529597Human1name
597945365CV3755352single nucleotide variantNM_003119.4(SPG7):c.987+16G>THereditary spastic paraplegia 7 [RCV005078361]likely benign168953082489530824Human1name
12840913CV375640single nucleotide variantNM_003119.4(SPG7):c.618+15G>Anot specified [RCV000431613]likely benign168952426289524262Humanname
12840039CV375651single nucleotide variantNM_003119.4(SPG7):c.2103+7C>THereditary spastic paraplegia 7 [RCV002063446]|SPG7-related disorder [RCV003942432]|not specified [RCV000429942]likely benign168955396789553967Human1name , alternate_id
597955340CV3757597single nucleotide variantNM_003119.4(SPG7):c.376+16G>AHereditary spastic paraplegia 7 [RCV005080263]likely benign168951305389513053Human1name
12833968CV375825single nucleotide variantNM_003119.4(SPG7):c.2103+8G>Anot specified [RCV000419508]likely benign168955396889553968Humanname
597835060CV3760893single nucleotide variantNM_003119.4(SPG7):c.861+17A>GHereditary spastic paraplegia 7 [RCV005085444]likely benign168952959689529596Human1name
597857120CV3769450single nucleotide variantNM_003119.4(SPG7):c.184-17T>CHereditary spastic paraplegia 7 [RCV005105491]likely benign168951047389510473Human1name
597858342CV3769615single nucleotide variantNM_003119.4(SPG7):c.287-12T>CHereditary spastic paraplegia 7 [RCV005105657]likely benign168951293689512936Human1name
12842424CV377952single nucleotide variantNM_003119.4(SPG7):c.1325-6C>THereditary spastic paraplegia 7 [RCV000474127]|Inborn genetic diseases [RCV002524805]|not provided [RCV003456395]|not specified [RCV000434380]likely benign|conflicting interpretations of pathogenicity|uncertain significance168954464289544642Human2name
12846868CV377966single nucleotide variantNM_003119.4(SPG7):c.1553-6T>GSPG7-related disorder [RCV003899889]|not specified [RCV000442475]likely benign168954799789547997Human1name , alternate_id
597854226CV3805926single nucleotide variantNM_003119.4(SPG7):c.184-19G>THereditary spastic paraplegia 7 [RCV005145856]likely benign168951047189510471Human1name
617152035CV4018251single nucleotide variantNM_003119.4(SPG7):c.287-11A>Tnot specified [RCV005418511]likely benign168951293789512937Humanname
12906053CV413448single nucleotide variantNM_003119.4(SPG7):c.1449+5G>Cnot provided [RCV000488361]|not specified [RCV005418163]uncertain significance168954477789544777Humanname
13488315CV466894single nucleotide variantNM_003119.4(SPG7):c.1937-2A>GHereditary spastic paraplegia 7 [RCV000554743]|not provided [RCV005000165]pathogenic|likely pathogenic168955379289553792Human1name
13526237CV505684single nucleotide variantNM_003119.4(SPG7):c.1937-9G>AHereditary spastic paraplegia 7 [RCV005091619]|not provided [RCV001722616]likely benign168955378589553785Human1name
13609978CV530504single nucleotide variantNM_003119.4(SPG7):c.1151-8C>THereditary spastic paraplegia 7 [RCV002060744]|Hereditary spastic paraplegia [RCV001849015]benign|uncertain significance168953245589532455Human2name
13802758CV570640single nucleotide variantNM_003119.4(SPG7):c.1553-2A>GHereditary spastic paraplegia 7 [RCV000698570]|not provided [RCV001091057]pathogenic|likely pathogenic168954800189548001Human1name
14696055CV608910single nucleotide variantNM_003119.4(SPG7):c.2104-2A>GHereditary spastic paraplegia 7 [RCV000786074]pathogenic|likely pathogenic168955448489554484Human1name
14731309CV667660single nucleotide variantNM_003119.4(SPG7):c.987+57C>Tnot provided [RCV000836061]likely benign168953086589530865Humanname
14978260CV677260single nucleotide variantNM_003119.4(SPG7):c.1779+5G>CSpastic paraplegia [RCV000850329]uncertain significance168955061489550614Human2name
15109543CV776234single nucleotide variantNM_003119.4(SPG7):c.1553-5G>CHereditary spastic paraplegia 7 [RCV001399326]likely benign168954799889547998Human1name
15175736CV776600single nucleotide variantNM_003119.4(SPG7):c.1325-8C>Gnot provided [RCV000928751]likely benign168954464089544640Humanname
21075491CV797460single nucleotide variantNM_003119.4(SPG7):c.1324+4A>Tnot provided [RCV000996408]uncertain significance168953264089532640Humanname
21074863CV798709single nucleotide variantNM_003119.4(SPG7):c.1552+1G>THereditary spastic paraplegia 7 [RCV000995648]|Hereditary spastic paraplegia [RCV001847130]|not provided [RCV001091056]pathogenic|likely pathogenic168954676189546761Human2name
127234273CV977148duplicationNM_003119.4(SPG7):c.1552+2dupHereditary spastic paraplegia 7 [RCV001391523]|not provided [RCV001664793]pathogenic|conflicting interpretations of pathogenicity|uncertain significance168954676189546762Human1name
150406860CV1178089single nucleotide variantNM_003119.4(SPG7):c.988-115G>Anot provided [RCV001545396]likely benign168953178989531789Humanname
150422740CV1181451single nucleotide variantNM_003119.4(SPG7):c.377-298G>Anot provided [RCV001553048]likely benign168952370889523708Humanname
150417783CV1181454single nucleotide variantNM_003119.4(SPG7):c.1552+50G>Anot provided [RCV001550298]likely benign168954681089546810Humanname
150424158CV1185185single nucleotide variantNM_003119.4(SPG7):c.619-233C>Tnot provided [RCV001556294]likely benign168952609689526096Humanname
150424323CV1185186single nucleotide variantNM_003119.4(SPG7):c.619-228C>Tnot provided [RCV001556512]likely benign168952610189526101Humanname
150424527CV1185191single nucleotide variantNM_003119.4(SPG7):c.2103+95G>Tnot provided [RCV001556784]likely benign168955405589554055Humanname
150428290CV1188452single nucleotide variantNM_003119.4(SPG7):c.286+148C>Anot provided [RCV001562069]likely benign168951074089510740Humanname
150429025CV1188454single nucleotide variantNM_003119.4(SPG7):c.759-333G>Anot provided [RCV001563051]likely benign168952914489529144Humanname
150406797CV1191883single nucleotide variantNM_003119.4(SPG7):c.184-300G>Cnot provided [RCV001564798]likely benign168951019089510190Humanname
150413215CV1191884single nucleotide variantNM_003119.4(SPG7):c.861+321T>Cnot provided [RCV001567133]likely benign168952990089529900Humanname
150413207CV1191885single nucleotide variantNM_003119.4(SPG7):c.987+151T>Cnot provided [RCV001567131]likely benign168953095989530959Humanname
150415515CV1191886single nucleotide variantNM_003119.4(SPG7):c.1449+55C>Gnot provided [RCV001568018]likely benign168954482789544827Humanname
150414135CV1191887single nucleotide variantNM_003119.4(SPG7):c.1449+84C>Tnot provided [RCV001567417]likely benign168954485689544856Humanname
150415477CV1191889single nucleotide variantNM_003119.4(SPG7):c.1779+69G>Anot provided [RCV001568002]likely benign168955067889550678Humanname
150418313CV1198856single nucleotide variantNM_003119.4(SPG7):c.1780-94C>Tnot provided [RCV001576688]likely benign168955288589552885Humanname
150459130CV1202878single nucleotide variantNM_003119.4(SPG7):c.1937-44G>Anot provided [RCV001586531]likely benign168955375089553750Humanname
150434477CV1204358single nucleotide variantNM_003119.4(SPG7):c.286+218G>Anot provided [RCV001582107]likely benign168951081089510810Humanname
150495643CV1205058single nucleotide variantNM_003119.4(SPG7):c.988-235T>Gnot provided [RCV001593550]likely benign168953166989531669Humanname
150480122CV1207955single nucleotide variantNM_003119.4(SPG7):c.1450-75C>Anot provided [RCV001590232]likely benign168954658389546583Humanname
150472032CV1209663single nucleotide variantNM_003119.4(SPG7):c.861+313T>Cnot provided [RCV001588774]likely benign168952989289529892Humanname
150482805CV1210028single nucleotide variantNM_003119.4(SPG7):c.988-110C>Tnot provided [RCV001590726]likely benign168953179489531794Humanname
150475115CV1217901single nucleotide variantNM_003119.4(SPG7):c.1450-29G>AHereditary spastic paraplegia 7 [RCV001810124]|not provided [RCV001615912]benign168954662989546629Human1name
150481309CV1222139single nucleotide variantNM_003119.4(SPG7):c.861+119C>Tnot provided [RCV001616937]benign168952969889529698Humanname
150514098CV1228053single nucleotide variantNM_003119.4(SPG7):c.1937-54A>Gnot provided [RCV001638331]benign168955374089553740Humanname
150507870CV1229196single nucleotide variantNM_003119.4(SPG7):c.619-115C>Tnot provided [RCV001636067]benign168952621489526214Humanname
150433075CV1230384single nucleotide variantNM_003119.4(SPG7):c.1450-78C>Tnot provided [RCV001643329]benign168954658089546580Humanname
150461397CV1231471duplicationNM_003119.4(SPG7):c.1450-75dupnot provided [RCV001641038]benign168954657189546572Humanname
150497915CV1236439single nucleotide variantNM_003119.4(SPG7):c.987+290C>Anot provided [RCV001656164]benign168953109889531098Humanname
150484216CV1247091single nucleotide variantNM_003119.4(SPG7):c.759-126C>Tnot provided [RCV001673587]benign168952935189529351Humanname
150475989CV1251796single nucleotide variantNM_003119.4(SPG7):c.1779+47G>CHereditary spastic paraplegia 7 [RCV001810216]|not provided [RCV001671994]benign168955065689550656Human1name
150504966CV1255350deletionNM_003119.4(SPG7):c.1450-75delnot provided [RCV001677797]benign168954657289546572Humanname
150460212CV1268462single nucleotide variantNM_003119.4(SPG7):c.618+170C>Tnot provided [RCV001693459]benign168952441789524417Humanname
150478316CV1281914single nucleotide variantNM_003119.4(SPG7):c.1552+65A>Cnot provided [RCV001714275]benign168954682589546825Humanname
150493395CV1281915single nucleotide variantNM_003119.4(SPG7):c.184-132T>Cnot provided [RCV001717001]benign168951035889510358Humanname
151848662CV1402703single nucleotide variantNM_003119.4(SPG7):c.1663+11C>THereditary spastic paraplegia 7 [RCV001882307]likely benign|uncertain significance168954812489548124Human1name
8692978CV142943single nucleotide variantNM_003119.4(SPG7):c.1324+10C>THereditary spastic paraplegia 7 [RCV001085222]|Hereditary spastic paraplegia [RCV001847761]|not provided [RCV000713480]|not specified [RCV000128201]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance168953264689532646Human2name
8692980CV142945single nucleotide variantNM_003119.4(SPG7):c.1663+13C>THereditary spastic paraplegia 7 [RCV000272278]|not provided [RCV004709338]|not specified [RCV000128203]benign|likely benign168954812689548126Human1name
8692981CV142946single nucleotide variantNM_003119.4(SPG7):c.1664-15C>AHereditary spastic paraplegia 7 [RCV001121646]|not provided [RCV004709339]|not specified [RCV000128204]benign|likely benign168955047989550479Human1name
8692982CV142947single nucleotide variantNM_003119.4(SPG7):c.1664-11C>AHereditary spastic paraplegia 7 [RCV001121647]|not specified [RCV000128205]benign|conflicting interpretations of pathogenicity|uncertain significance168955048389550483Human1name
8692984CV142949single nucleotide variantNM_003119.4(SPG7):c.1936+12C>THereditary spastic paraplegia 7 [RCV000335399]|not specified [RCV000128207]benign|likely benign|uncertain significance168955314789553147Human1name
8692985CV142950single nucleotide variantNM_003119.4(SPG7):c.1937-16C>GHereditary spastic paraplegia 7 [RCV001522690]|not provided [RCV004703416]|not specified [RCV000128208]benign|likely benign|conflicting interpretations of pathogenicity168955377889553778Human1name
152032989CV1544693single nucleotide variantNM_003119.4(SPG7):c.2181+19G>AHereditary spastic paraplegia 7 [RCV002115764]|not provided [RCV002223340]benign|uncertain significance168955458289554582Human1name
152107246CV1577838single nucleotide variantNM_003119.4(SPG7):c.2182-19C>THereditary spastic paraplegia 7 [RCV002096342]likely benign168955686889556868Human1name
152092887CV1593233single nucleotide variantNM_003119.4(SPG7):c.1324+18C>THereditary spastic paraplegia 7 [RCV002094433]likely benign168953265489532654Human1name
152172592CV1599189single nucleotide variantNM_003119.4(SPG7):c.1936+15C>THereditary spastic paraplegia 7 [RCV002143829]likely benign168955315089553150Human1name
152042602CV1618078single nucleotide variantNM_003119.4(SPG7):c.1664-13G>AHereditary spastic paraplegia 7 [RCV002206544]likely benign168955048189550481Human1name
152030429CV1632154single nucleotide variantNM_003119.4(SPG7):c.1936+18G>AHereditary spastic paraplegia 7 [RCV002124324]likely benign168955315389553153Human1name
152163215CV1635864single nucleotide variantNM_003119.4(SPG7):c.1553-20G>AHereditary spastic paraplegia 7 [RCV002203791]likely benign168954798389547983Human1name
156047946CV1887601single nucleotide variantNM_003119.4(SPG7):c.2104-12C>GHereditary spastic paraplegia 7 [RCV003078765]likely benign168955447489554474Human1name
156036473CV1890210single nucleotide variantNM_003119.4(SPG7):c.1937-10C>THereditary spastic paraplegia 7 [RCV003078336]likely benign168955378489553784Human1name
156347401CV1958278single nucleotide variantNM_003119.4(SPG7):c.1324+19C>THereditary spastic paraplegia 7 [RCV002580831]likely benign168953265589532655Human1name
156393090CV1965108single nucleotide variantNM_003119.4(SPG7):c.1151-14C>GHereditary spastic paraplegia 7 [RCV002584063]likely benign168953244989532449Human1name
156381479CV1978782single nucleotide variantNM_003119.4(SPG7):c.1151-16C>GHereditary spastic paraplegia 7 [RCV002603995]likely benign168953244789532447Human1name
156167598CV1993429single nucleotide variantNM_003119.4(SPG7):c.1450-17T>CHereditary spastic paraplegia 7 [RCV002642625]|not provided [RCV004706438]likely benign168954664189546641Human1name
156231257CV2019760single nucleotide variantNM_003119.4(SPG7):c.1150+13G>CHereditary spastic paraplegia 7 [RCV002701368]likely benign168953207989532079Human1name
155944863CV2039534single nucleotide variantNM_003119.4(SPG7):c.1937-16C>THereditary spastic paraplegia 7 [RCV002775419]likely benign168955377889553778Human1name
156275399CV2046367single nucleotide variantNM_003119.4(SPG7):c.1552+15C>THereditary spastic paraplegia 7 [RCV002770197]likely benign168954677589546775Human1name
156031141CV2117452single nucleotide variantNM_003119.4(SPG7):c.1936+16G>AHereditary spastic paraplegia 7 [RCV002923519]likely benign168955315189553151Human1name
10410687CV211762single nucleotide variantNM_003119.4(SPG7):c.1663+14G>AHereditary spastic paraplegia 7 [RCV003617802]|not specified [RCV000198673]benign|likely benign168954812789548127Human1name
10411256CV211766single nucleotide variantNM_003119.4(SPG7):c.1779+20G>AHereditary spastic paraplegia 7 [RCV002054344]|not specified [RCV000199895]benign168955062989550629Human1name
156034804CV2182427single nucleotide variantNM_003119.4(SPG7):c.1937-11C>THereditary spastic paraplegia 7 [RCV003036334]likely benign168955378389553783Human1name
401918467CV2523107single nucleotide variantNM_003119.4(SPG7):c.286+853A>GHereditary spastic paraplegia 7 [RCV003388210]pathogenic168951144589511445Human1name
11545345CV255961single nucleotide variantNM_003119.4(SPG7):c.1449+19G>AHereditary spastic paraplegia 7 [RCV001510312]|not provided [RCV001707589]|not specified [RCV000245007]benign168954479189544791Human1name
11548951CV255962single nucleotide variantNM_003119.4(SPG7):c.1450-16C>Tnot specified [RCV000249768]likely benign168954664289546642Humanname
402500496CV2886328single nucleotide variantNM_003119.4(SPG7):c.1779+10G>AHereditary spastic paraplegia 7 [RCV003508664]likely benign168955061989550619Human1name
402503304CV2906384single nucleotide variantNM_003119.4(SPG7):c.1663+12G>AHereditary spastic paraplegia 7 [RCV003508977]likely benign168954812589548125Human1name
402486451CV2913354single nucleotide variantNM_003119.4(SPG7):c.1664-17C>THereditary spastic paraplegia 7 [RCV003507034]likely benign168955047789550477Human1name
402487439CV2917392single nucleotide variantNM_003119.4(SPG7):c.1779+12C>AHereditary spastic paraplegia 7 [RCV003507146]likely benign168955062189550621Human1name
405130821CV2961554single nucleotide variantNM_003119.4(SPG7):c.1324+20G>AHereditary spastic paraplegia 7 [RCV003618261]likely benign168953265689532656Human1name
405125744CV3023485single nucleotide variantNM_003119.4(SPG7):c.1936+17C>THereditary spastic paraplegia 7 [RCV003617621]likely benign168955315289553152Human1name
405138531CV3071367single nucleotide variantNM_003119.4(SPG7):c.1324+11G>AHereditary spastic paraplegia 7 [RCV003619068]likely benign168953264789532647Human1name
405253589CV3178564single nucleotide variantNM_003119.4(SPG7):c.1324+15G>AHereditary spastic paraplegia 7 [RCV003871165]likely benign168953265189532651Human1name
597853184CV3737719single nucleotide variantNM_003119.4(SPG7):c.1151-18C>THereditary spastic paraplegia 7 [RCV005066492]likely benign168953244589532445Human1name
12833264CV374767single nucleotide variantNM_003119.4(SPG7):c.2182-18T>CHereditary spastic paraplegia 7 [RCV002059935]|not specified [RCV000418184]likely benign168955686989556869Human1name
597870631CV3835114single nucleotide variantNM_003119.4(SPG7):c.1664-14C>THereditary spastic paraplegia 7 [RCV005176290]likely benign168955048089550480Human1name
13537479CV505865single nucleotide variantNM_003119.4(SPG7):c.1937-15G>AHereditary spastic paraplegia 7 [RCV002528585]|not specified [RCV000610460]likely benign168955377989553779Human1name
13535846CV506641single nucleotide variantNM_003119.4(SPG7):c.1552+16G>THereditary spastic paraplegia 7 [RCV002528742]|not specified [RCV000608139]likely benign168954677689546776Human1name
13540065CV506646single nucleotide variantNM_003119.4(SPG7):c.1936+13G>AHereditary spastic paraplegia 7 [RCV002066746]|SPG7-related disorder [RCV003905652]|not specified [RCV000614175]likely benign168955314889553148Human1name , alternate_id
14715048CV667657single nucleotide variantNM_003119.4(SPG7):c.184-235G>Anot provided [RCV000829251]benign168951025589510255Humanname
14739158CV667661single nucleotide variantNM_003119.4(SPG7):c.987+216A>Gnot provided [RCV000839745]likely benign168953102489531024Humanname
14733580CV668543single nucleotide variantNM_003119.4(SPG7):c.376+140C>Tnot provided [RCV000837159]likely benign168951317789513177Humanname
14715068CV668549single nucleotide variantNM_003119.4(SPG7):c.377-171G>Anot provided [RCV000829257]benign168952383589523835Humanname
14736807CV668550single nucleotide variantNM_003119.4(SPG7):c.861+196C>Tnot provided [RCV000838652]likely benign168952977589529775Humanname
14713199CV668688single nucleotide variantNM_003119.4(SPG7):c.287-280A>Gnot provided [RCV000828649]benign168951266889512668Humanname
14715066CV668692single nucleotide variantNM_003119.4(SPG7):c.287-233G>Anot provided [RCV000829256]benign168951271589512715Humanname
14733579CV668695single nucleotide variantNM_003119.4(SPG7):c.376+105G>Tnot provided [RCV000837158]likely benign168951314289513142Humanname
14723212CV668703single nucleotide variantNM_003119.4(SPG7):c.758+294C>Tnot provided [RCV000832431]likely benign168952676289526762Humanname
14723426CV668707single nucleotide variantNM_003119.4(SPG7):c.758+316A>Gnot provided [RCV000832529]likely benign168952678489526784Humanname
14718207CV668714single nucleotide variantNM_003119.4(SPG7):c.758+322C>Tnot provided [RCV000830318]benign168952679089526790Humanname
14715072CV668716single nucleotide variantNM_003119.4(SPG7):c.759-162G>Anot provided [RCV000829258]benign168952931589529315Humanname
14729650CV669002deletionNM_003119.4(SPG7):c.2104-24delnot provided [RCV000835319]likely benign168955446289554462Humanname
38461472CV920366single nucleotide variantNM_003119.4(SPG7):c.1150+17G>AHereditary spastic paraplegia 7 [RCV001197666]uncertain significance168953208389532083Human1name
126730504CV1000980single nucleotide variantNM_003119.4(SPG7):c.2182-795C>Gnot provided [RCV001310352]likely benign|uncertain significance168955609289556092Humanname
127318982CV1157896single nucleotide variantNM_003119.4(SPG7):c.376+4364C>THereditary spastic paraplegia 7 [RCV001521895]benign168951740189517401Human1name
150331870CV1169706single nucleotide variantNM_003119.4(SPG7):c.1325-302G>Anot provided [RCV001536661]likely benign168954434689544346Humanname
150336604CV1172926single nucleotide variantNM_003119.4(SPG7):c.1779+238A>Gnot provided [RCV001541063]benign168955084789550847Humanname
150410284CV1178092single nucleotide variantNM_003119.4(SPG7):c.2104-231C>Tnot provided [RCV001546561]likely benign168955425589554255Humanname
150413855CV1178093single nucleotide variantNM_003119.4(SPG7):c.2182-283G>Anot provided [RCV001547925]likely benign168955660489556604Humanname
150420811CV1181455single nucleotide variantNM_003119.4(SPG7):c.1552+103C>Tnot provided [RCV001551724]likely benign168954686389546863Humanname
150418404CV1181457single nucleotide variantNM_003119.4(SPG7):c.2181+255C>Gnot provided [RCV001550587]likely benign168955481889554818Humanname
150425115CV1185189single nucleotide variantNM_003119.4(SPG7):c.1663+112C>Tnot provided [RCV001557581]likely benign168954822589548225Humanname
150425803CV1185190single nucleotide variantNM_003119.4(SPG7):c.1780-259T>Gnot provided [RCV001558496]likely benign168955272089552720Humanname
150428941CV1188455single nucleotide variantNM_003119.4(SPG7):c.1324+185C>Tnot provided [RCV001562927]likely benign168953282189532821Humanname
150411612CV1191888single nucleotide variantNM_003119.4(SPG7):c.1553-131C>Gnot provided [RCV001566650]likely benign168954787289547872Humanname
150421597CV1195135single nucleotide variantNM_003119.4(SPG7):c.1324+222C>Tnot provided [RCV001570611]likely benign168953285889532858Humanname
150438398CV1201397single nucleotide variantNM_003119.4(SPG7):c.1324+302C>Tnot provided [RCV001583209]likely benign168953293889532938Humanname
150469023CV1207503single nucleotide variantNM_003119.4(SPG7):c.1324+272A>Gnot provided [RCV001588192]likely benign168953290889532908Humanname
150499787CV1209142single nucleotide variantNM_003119.4(SPG7):c.2181+235C>Gnot provided [RCV001594360]likely benign168955479889554798Humanname
150483374CV1210122single nucleotide variantNM_003119.4(SPG7):c.2181+118A>Gnot provided [RCV001590821]likely benign168955468189554681Humanname
150510318CV1211560single nucleotide variantNM_003119.4(SPG7):c.1151-111A>Gnot provided [RCV001597352]benign168953235289532352Humanname
150450846CV1232726single nucleotide variantNM_003119.4(SPG7):c.1664-130G>Tnot provided [RCV001647801]benign168955036489550364Humanname
150464579CV1241325single nucleotide variantNM_003119.4(SPG7):c.1664-112G>Anot provided [RCV001649836]benign168955038289550382Humanname
150440478CV1287188duplicationNM_003119.4(SPG7):c.1324+148dupnot provided [RCV001725103]benign168953277289532773Humanname
155943532CV2130048microsatelliteNM_003119.4(SPG7):c.759-18CT[2]Hereditary spastic paraplegia 7 [RCV002971445]likely benign168952945989529460Humanname
401913813CV2814590single nucleotide variantNM_003119.4(SPG7):c.2182-881A>Gnot provided [RCV003428006]likely benign|conflicting interpretations of pathogenicity168955600689556006Humanname
401903606CV2814591single nucleotide variantNM_003119.4(SPG7):c.2182-869G>Cnot provided [RCV003419526]likely benign168955601889556018Humanname
401903608CV2814592single nucleotide variantNM_003119.4(SPG7):c.2182-831G>Anot provided [RCV003419527]uncertain significance168955605689556056Humanname
14715074CV667663single nucleotide variantNM_003119.4(SPG7):c.1324+197C>Tnot provided [RCV000829259]benign168953283389532833Humanname
14733671CV667688single nucleotide variantNM_003119.4(SPG7):c.1936+154G>Tnot provided [RCV000837201]benign168955328989553289Humanname
14714522CV668551single nucleotide variantNM_003119.4(SPG7):c.1324+308G>Tnot provided [RCV000829066]benign168953294489532944Humanname
14715080CV668563single nucleotide variantNM_003119.4(SPG7):c.1552+205G>Anot provided [RCV000829261]benign168954696589546965Humanname
14739163CV668564single nucleotide variantNM_003119.4(SPG7):c.1552+231C>Tnot provided [RCV000839747]benign168954699189546991Humanname
14705649CV668565single nucleotide variantNM_003119.4(SPG7):c.1664-344T>Cnot provided [RCV000826261]benign168955015089550150Humanname
14719701CV668722single nucleotide variantNM_003119.4(SPG7):c.1664-177C>Tnot provided [RCV000830898]benign168955031789550317Humanname
14739161CV668997single nucleotide variantNM_003119.4(SPG7):c.1449+174C>Tnot provided [RCV000839746]benign168954494689544946Humanname
14715084CV669000single nucleotide variantNM_003119.4(SPG7):c.1552+244T>Cnot provided [RCV000829262]benign168954700489547004Humanname
126740494CV1021571single nucleotide variantNM_003119.4(SPG7):c.1324+4273G>THereditary spastic paraplegia 7 [RCV001336012]uncertain significance168953690989536909Human1name
150408961CV1178090single nucleotide variantNM_003119.4(SPG7):c.1324+3878T>Cnot provided [RCV001546086]likely benign168953651489536514Humanname
150405167CV1178091single nucleotide variantNM_003119.4(SPG7):c.1324+4086A>Gnot provided [RCV001544738]likely benign168953672289536722Humanname
150421998CV1181452single nucleotide variantNM_003119.4(SPG7):c.1324+3861A>Gnot provided [RCV001552270]likely benign168953649789536497Humanname
150415963CV1181453single nucleotide variantNM_003119.4(SPG7):c.1324+3864T>Cnot provided [RCV001549383]likely benign168953650089536500Humanname
150424082CV1185188single nucleotide variantNM_003119.4(SPG7):c.1324+3869T>Cnot provided [RCV001556187]likely benign168953650589536505Humanname
150426313CV1188456single nucleotide variantNM_003119.4(SPG7):c.1324+4312G>Tnot provided [RCV001559412]likely benign168953694889536948Humanname
150480586CV1208046single nucleotide variantNM_003119.4(SPG7):c.1324+3883T>Cnot provided [RCV001590323]likely benign168953651989536519Humanname
150516507CV1227098single nucleotide variantNM_003119.4(SPG7):c.1324+4020A>Gnot provided [RCV001639196]benign168953665689536656Humanname
150475004CV1252945single nucleotide variantNM_003119.4(SPG7):c.1324+4109C>Anot provided [RCV001671853]benign168953674589536745Humanname
150463570CV1253822single nucleotide variantNM_003119.4(SPG7):c.1324+4109C>Tnot provided [RCV001669864]benign168953674589536745Humanname
150442646CV1266264duplicationNM_003119.4(SPG7):c.1324+3841dupnot provided [RCV001690700]benign168953647689536477Humanname
150444291CV1288000single nucleotide variantNM_003119.4(SPG7):c.1324+3941G>Cnot provided [RCV001725722]benign168953657789536577Humanname
10411155CV211758single nucleotide variantNM_003119.4(SPG7):c.1324+4173C>TInborn genetic diseases [RCV002515436]|not specified [RCV000199673]benign|likely benign168953680989536809Human1name
11347657CV242530deletionNM_003119.4(SPG7):c.976_987+3delHereditary spastic paraplegia 7 [RCV000232876]|not provided [RCV000516566]pathogenic|likely pathogenic168953079489530808Human1name
329952913CV2669622single nucleotide variantNM_003119.4(SPG7):c.1324+4143C>TSPG7-related disorder [RCV003396966]|not provided [RCV003234245]uncertain significance168953677989536779Human1name , alternate_id
405261732CV3186239single nucleotide variantNM_003119.4(SPG7):c.1324+4321A>Gnot provided [RCV003885315]likely benign168953695789536957Humanname
405292349CV3192384single nucleotide variantNM_003119.4(SPG7):c.1324+4224C>TSPG7-related disorder [RCV003929655]likely benign168953686089536860Humanname , trait , alternate_id
405290217CV3214180single nucleotide variantNM_003119.4(SPG7):c.1324+4208G>ASPG7-related disorder [RCV003927012]likely benign168953684489536844Humanname , trait , alternate_id
408386153CV3496749deletionNM_003119.4(SPG7):c.1450_1459delHereditary spastic paraplegia 7 [RCV004767702]likely pathogenic168954665789546666Human1name
12844952CV375650single nucleotide variantNM_003119.4(SPG7):c.1324+4187C>Tnot provided [RCV001726164]|not specified [RCV000438929]likely benign168953682389536823Humanname
598178317CV4008424single nucleotide variantNM_003119.4(SPG7):c.1324+4222C>THereditary spastic paraplegia 7 [RCV005393943]uncertain significance168953685889536858Human1name
14719482CV667667single nucleotide variantNM_003119.4(SPG7):c.1324+3852A>Gnot provided [RCV000830797]benign168953648889536488Humanname
14746288CV668556single nucleotide variantNM_003119.4(SPG7):c.1324+3845T>Cnot provided [RCV000844279]likely benign168953648189536481Humanname
14719151CV668560single nucleotide variantNM_003119.4(SPG7):c.1324+3865G>Cnot provided [RCV000830646]likely benign168953650189536501Humanname
14718085CV668718single nucleotide variantNM_003119.4(SPG7):c.1324+3850T>Cnot provided [RCV000830280]benign168953648689536486Humanname
14746290CV668720single nucleotide variantNM_003119.4(SPG7):c.1324+4542A>Gnot provided [RCV000844281]benign168953717889537178Humanname
14719142CV668980single nucleotide variantNM_003119.4(SPG7):c.1324+3855T>Cnot provided [RCV000830642]likely benign168953649189536491Humanname
14723462CV668989deletionNM_003119.4(SPG7):c.1324+3861delnot provided [RCV000832544]likely benign168953649789536497Humanname
14715077CV668993single nucleotide variantNM_003119.4(SPG7):c.1324+3884C>Gnot provided [RCV000829260]likely benign168953652089536520Humanname
151753752CV1335833deletionNM_003119.4(SPG7):c.184-5_184-4delHereditary spastic paraplegia [RCV001848233]likely benign168951047289510473Human1name
8692990CV142955single nucleotide variantNM_003119.4(SPG7):c.9G>T (p.Val3=)Hereditary spastic paraplegia 7 [RCV000552044]|Hereditary spastic paraplegia [RCV001847768]|not provided [RCV001529839]|not specified [RCV000128213]benign|likely benign|uncertain significance168950842689508426Human2name
408394771CV3395402deletionNM_003119.4(SPG7):c.183+1_184-1delHereditary spastic paraplegia 7 [RCV004765034]pathogenic168950859889510486Human1name
596945334CV3401469deletionNM_003119.4(SPG7):c.988-42_1046delHereditary spastic paraplegia 7 [RCV004818490]likely pathogenic168953185989531959Human1name
12895710CV402131deletionNM_003119.4(SPG7):c.1450-1_1457delDistal spinal muscular atrophy [RCV000664257]|Dysarthria [RCV000626835]|Hereditary spastic paraplegia 7 [RCV000475192]|Hereditary spastic paraplegia [RCV000516115]|Inborn genetic diseases [RCV000622361]|Seizure [RCV000626836]|not provided [RCV000479409]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance168954665789546665Human13name
15139011CV688678single nucleotide variantNM_003119.4(SPG7):c.9G>A (p.Val3=)not provided [RCV000864933]likely benign168950842689508426Humanname
156041127CV1918524single nucleotide variantNM_003119.4(SPG7):c.19C>T (p.Leu7=)Hereditary spastic paraplegia 7 [RCV002620259]likely benign168950843689508436Human1name
405136011CV3045152single nucleotide variantNM_003119.4(SPG7):c.16C>T (p.Leu6=)Hereditary spastic paraplegia 7 [RCV003618826]likely benign168950843389508433Human1name
13541404CV505667single nucleotide variantNM_003119.4(SPG7):c.21G>A (p.Leu7=)not specified [RCV000616114]likely benign168950843889508438Humanname
21075486CV797455single nucleotide variantNM_003119.4(SPG7):c.13C>T (p.Leu5=)not provided [RCV000996400]likely benign168950843089508430Humanname
127234048CV977139microsatelliteNM_003119.4(SPG7):c.759-11_759-8delHereditary spastic paraplegia 7 [RCV001391425]|not specified [RCV004782692]pathogenic|conflicting interpretations of pathogenicity|uncertain significance168952946289529465Humanname
127236198CV1063801single nucleotide variantNM_003119.4(SPG7):c.2T>A (p.Met1Lys)Hereditary spastic paraplegia 7 [RCV001382565]pathogenic|likely pathogenic|uncertain significance168950841989508419Human1name
152159239CV1544362microsatelliteNM_003119.4(SPG7):c.1553-8_1553-7delHereditary spastic paraplegia 7 [RCV002122898]|not provided [RCV002508340]benign|likely benign168954799289547993Humanname
152164308CV1557563deletionNM_003119.4(SPG7):c.759-12_759-11delHereditary spastic paraplegia 7 [RCV002141494]likely benign168952946489529465Human1name
156409607CV1881406deletionNM_003119.4(SPG7):c.618+14_618+36delHereditary spastic paraplegia 7 [RCV003071741]uncertain significance168952424389524265Human1name
10047532CV190417single nucleotide variantNM_003119.4(SPG7):c.1A>G (p.Met1Val)Hereditary spastic paraplegia 7 [RCV001852108]|SPG7-related disorder [RCV003416067]|not provided [RCV000173302]pathogenic|likely pathogenic168950841889508418Human1name , alternate_id
156139012CV1973514deletionNM_003119.4(SPG7):c.376+16_376+18delHereditary spastic paraplegia 7 [RCV002593763]likely benign168951305289513054Human1name
156202013CV2021267single nucleotide variantNM_003119.4(SPG7):c.78C>A (p.Gly26=)Hereditary spastic paraplegia 7 [RCV002711434]likely benign168950849589508495Human1name
155999520CV2092124microsatelliteNM_003119.4(SPG7):c.1449+6_1449+7delHereditary spastic paraplegia 7 [RCV002908558]uncertain significance168954477689544777Humanname
10410050CV211737single nucleotide variantNM_003119.4(SPG7):c.4G>A (p.Ala2Thr)Hereditary spastic paraplegia 7 [RCV000817246]|Hereditary spastic paraplegia [RCV001847886]|Inborn genetic diseases [RCV002515437]|not provided [RCV001722098]|not specified [RCV005237700]likely benign|conflicting interpretations of pathogenicity|uncertain significance168950842189508421Human3name
156008340CV2127528single nucleotide variantNM_003119.4(SPG7):c.30C>T (p.Ala10=)Hereditary spastic paraplegia 7 [RCV002948124]likely benign168950844789508447Human1name
10405912CV213227deletionNM_003119.4(SPG7):c.618+11_618+68delHereditary spastic paraplegia 7 [RCV000199523]|not provided [RCV001722104]likely pathogenic|benign|likely benign168952425089524307Human1name
11542215CV248513deletionNM_003119.3(SPG7):c.1553-?_1779+?delHereditary spastic paraplegia 7 [RCV000240505]pathogenicHuman1name
401918068CV2795175single nucleotide variantNM_003119.4(SPG7):c.2T>G (p.Met1Arg)Hereditary spastic paraplegia 7 [RCV003388959]pathogenic168950841989508419Human1name
401913810CV2814583single nucleotide variantNM_003119.4(SPG7):c.48C>T (p.Gly16=)not provided [RCV003428004]likely benign168950846589508465Humanname
408394801CV3395437single nucleotide variantNM_003119.4(SPG7):c.1A>C (p.Met1Leu)Hereditary spastic paraplegia 7 [RCV004765069]pathogenic|likely pathogenic168950841889508418Human1name
596945326CV3401464deletionNM_003119.4(SPG7):c.1449+1_1779+1delHereditary spastic paraplegia 7 [RCV004818483]likely pathogenic168954477289550609Human1name
407424677CV3401467single nucleotide variantNM_003119.4(SPG7):c.3G>A (p.Met1Ile)Hereditary spastic paraplegia 7 [RCV004818487]|not provided [RCV004585107]pathogenic|likely pathogenic168950842089508420Human1name
596945342CV3401473single nucleotide variantNM_003119.4(SPG7):c.1A>T (p.Met1Leu)Hereditary spastic paraplegia 7 [RCV004818494]likely pathogenic168950841889508418Human1name
408394352CV3521880single nucleotide variantNM_003119.4(SPG7):c.2T>C (p.Met1Thr)Hereditary spastic paraplegia 7 [RCV004764679]likely pathogenic168950841989508419Human1name
597847258CV3736662single nucleotide variantNM_003119.4(SPG7):c.5C>T (p.Ala2Val)Hereditary spastic paraplegia 7 [RCV005065821]uncertain significance168950842289508422Human1name
12894980CV409800deletionNM_003119.4(SPG7):c.1553-2_1553-1delHereditary spastic paraplegia 7 [RCV001391524]|not provided [RCV000484864]pathogenic|likely pathogenic168954800189548002Human1name
13541760CV506609single nucleotide variantNM_003119.4(SPG7):c.57T>C (p.Pro19=)not specified [RCV000616606]likely benign168950847489508474Humanname
15125964CV693973single nucleotide variantNM_003119.4(SPG7):c.33C>T (p.Leu11=)Hereditary spastic paraplegia 7 [RCV001411251]|not provided [RCV000875038]likely benign|conflicting interpretations of pathogenicity|uncertain significance168950845089508450Human1name
15102108CV785442single nucleotide variantNM_003119.4(SPG7):c.99C>T (p.Phe33=)Hereditary spastic paraplegia 7 [RCV001433722]|not provided [RCV003424511]likely benign168950851689508516Human1name
28887189CV876179single nucleotide variantNM_003119.4(SPG7):c.66G>C (p.Leu22=)Hereditary spastic paraplegia 7 [RCV001119555]uncertain significance168950848389508483Human1name
8692991CV142956single nucleotide variantNM_003119.4(SPG7):c.120G>A (p.Gly40=)Hereditary spastic paraplegia 7 [RCV000526678]|Hereditary spastic paraplegia [RCV001847769]|not provided [RCV002262748]|not specified [RCV000128214]benign|conflicting interpretations of pathogenicity168950853789508537Human2name
152042904CV1618126single nucleotide variantNM_003119.4(SPG7):c.288T>G (p.Gly96=)Hereditary spastic paraplegia 7 [RCV002206579]likely benign168951294989512949Human1name
156328126CV2050435single nucleotide variantNM_003119.4(SPG7):c.193T>C (p.Leu65=)Hereditary spastic paraplegia 7 [RCV002810516]likely benign168951049989510499Human1name
10410255CV211741single nucleotide variantNM_003119.4(SPG7):c.199C>T (p.Leu67=)Hereditary spastic paraplegia 7 [RCV000860664]|Hereditary spastic paraplegia [RCV001847883]|not provided [RCV001815248]|not specified [RCV000197807]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance168951050589510505Human2name
402498107CV2877188single nucleotide variantNM_003119.4(SPG7):c.264A>C (p.Pro88=)Hereditary spastic paraplegia 7 [RCV003508412]likely benign168951057089510570Human1name
405135956CV3048193duplicationNM_003119.4(SPG7):c.1552+4_1552+11dupHereditary spastic paraplegia 7 [RCV003618820]likely benign168954676289546763Human1name
405126734CV3050101single nucleotide variantNM_003119.4(SPG7):c.11T>C (p.Leu4Pro)Hereditary spastic paraplegia 7 [RCV003617759]|Inborn genetic diseases [RCV005281458]uncertain significance168950842889508428Human2name
405252936CV3178148single nucleotide variantNM_003119.4(SPG7):c.192A>G (p.Gln64=)Hereditary spastic paraplegia 7 [RCV003870928]likely benign168951049889510498Human1name
402511097CV3178355single nucleotide variantNM_003119.4(SPG7):c.246A>G (p.Gln82=)Hereditary spastic paraplegia 7 [RCV003878972]likely benign168951055289510552Human1name
405260680CV3185865single nucleotide variantNM_003119.4(SPG7):c.210T>A (p.Pro70=)not provided [RCV003884941]likely benign168951051689510516Humanname
11650809CV336676single nucleotide variantNM_003119.4(SPG7):c.141G>A (p.Arg47=)Hereditary spastic paraplegia 7 [RCV000295035]uncertain significance168950855889508558Human1name
598262944CV3919192single nucleotide variantNM_003119.4(SPG7):c.17T>A (p.Leu6Gln)Inborn genetic diseases [RCV005280346]uncertain significance168950843489508434Human1name
13495033CV466893single nucleotide variantNM_003119.4(SPG7):c.144T>G (p.Pro48=)Hereditary spastic paraplegia 7 [RCV000536848]likely benign168950856189508561Human1name
13518881CV486163single nucleotide variantNM_003119.4(SPG7):c.222G>T (p.Gly74=)not provided [RCV000585188]uncertain significance168951052889510528Humanname
13529369CV505855single nucleotide variantNM_003119.4(SPG7):c.204A>G (p.Leu68=)Hereditary spastic paraplegia 7 [RCV002531726]|not specified [RCV000600284]likely benign168951051089510510Human1name
15125947CV684633single nucleotide variantNM_003119.4(SPG7):c.250T>C (p.Leu84=)Hereditary spastic paraplegia 7 [RCV000862674]|Hereditary spastic paraplegia [RCV001849162]|SPG7-related disorder [RCV003955591]|not provided [RCV001555487]likely benign|uncertain significance168951055689510556Human2name , alternate_id
15098824CV688679single nucleotide variantNM_003119.4(SPG7):c.228C>T (p.Asn76=)Hereditary spastic paraplegia 7 [RCV001450138]likely benign168951053489510534Human1name
26903426CV844498single nucleotide variantNM_003119.4(SPG7):c.25C>T (p.Arg9Cys)Hereditary spastic paraplegia 7 [RCV001069528]|Inborn genetic diseases [RCV002554580]|not provided [RCV002511031]uncertain significance168950844289508442Human2name
28878010CV860323single nucleotide variantNM_003119.4(SPG7):c.19C>A (p.Leu7Met)not provided [RCV001090548]uncertain significance168950843689508436Humanname
38482918CV960185deletionNM_003119.4(SPG7):c.2103+2_2103+20delHereditary spastic paraplegia 7 [RCV001235713]likely pathogenic168955396289553980Human1name
126730477CV1000975single nucleotide variantNM_003119.4(SPG7):c.930C>T (p.Asp310=)Hereditary spastic paraplegia 7 [RCV003617923]|not provided [RCV001310346]likely benign168953075189530751Human1name
126912354CV1038495single nucleotide variantNM_003119.4(SPG7):c.50C>A (p.Pro17Gln)not provided [RCV001356438]uncertain significance168950846789508467Humanname
127231251CV1082581single nucleotide variantNM_003119.4(SPG7):c.783G>A (p.Thr261=)Hereditary spastic paraplegia 7 [RCV001395205]likely benign168952950189529501Human1name
127274000CV1104368single nucleotide variantNM_003119.4(SPG7):c.822G>C (p.Leu274=)Hereditary spastic paraplegia 7 [RCV001431804]|not provided [RCV005411751]likely benign168952954089529540Human1name
127321687CV1146666single nucleotide variantNM_003119.4(SPG7):c.423G>T (p.Arg141=)Hereditary spastic paraplegia 7 [RCV001484636]|not specified [RCV003235576]likely benign168952405289524052Human1name
150529633CV1292902single nucleotide variantNM_003119.4(SPG7):c.498C>T (p.Ser166=)not provided [RCV001756295]uncertain significance168952412789524127Humanname
151731583CV1335841single nucleotide variantNM_003119.4(SPG7):c.50C>G (p.Pro17Arg)Hereditary spastic paraplegia 7 [RCV001885411]|Hereditary spastic paraplegia [RCV001848241]|not provided [RCV002275270]uncertain significance168950846789508467Human2name
151790324CV1370417single nucleotide variantNM_003119.4(SPG7):c.28G>T (p.Ala10Ser)Hereditary spastic paraplegia 7 [RCV001972989]uncertain significance168950844589508445Human1name
152145077CV1543224single nucleotide variantNM_003119.4(SPG7):c.993A>G (p.Pro331=)Hereditary spastic paraplegia 7 [RCV002178598]likely benign168953190989531909Human1name
152146498CV1545567single nucleotide variantNM_003119.4(SPG7):c.504C>T (p.Asn168=)Hereditary spastic paraplegia 7 [RCV002157515]|SPG7-related disorder [RCV003923464]likely benign168952413389524133Human1name , alternate_id
152169900CV1546700single nucleotide variantNM_003119.4(SPG7):c.933G>C (p.Val311=)Hereditary spastic paraplegia 7 [RCV002142939]likely benign168953075489530754Human1name
152154048CV1550357single nucleotide variantNM_003119.4(SPG7):c.37C>G (p.Arg13Gly)Hereditary spastic paraplegia 7 [RCV002139937]likely benign168950845489508454Human1name
152118771CV1600674single nucleotide variantNM_003119.4(SPG7):c.697C>T (p.Leu233=)Hereditary spastic paraplegia 7 [RCV002153985]|not provided [RCV004774628]likely benign|uncertain significance168952640789526407Human1name
152169169CV1614104single nucleotide variantNM_003119.4(SPG7):c.705C>T (p.Ile235=)Hereditary spastic paraplegia 7 [RCV002161354]likely benign168952641589526415Human1name
152034115CV1621479single nucleotide variantNM_003119.4(SPG7):c.357G>A (p.Lys119=)Hereditary spastic paraplegia 7 [RCV002205293]likely benign168951301889513018Human1name
156017402CV1885362single nucleotide variantNM_003119.4(SPG7):c.627C>T (p.Ala209=)Hereditary spastic paraplegia 7 [RCV003077439]likely benign168952633789526337Human1name
156217327CV1910720single nucleotide variantNM_003119.4(SPG7):c.495T>C (p.Ile165=)Hereditary spastic paraplegia 7 [RCV002596322]likely benign168952412489524124Human1name
156277489CV1911955single nucleotide variantNM_003119.4(SPG7):c.561T>C (p.Pro187=)Hereditary spastic paraplegia 7 [RCV002628314]likely benign168952419089524190Human1name
156203257CV1912982single nucleotide variantNM_003119.4(SPG7):c.50C>T (p.Pro17Leu)Hereditary spastic paraplegia 7 [RCV002595782]uncertain significance168950846789508467Human1name
156407280CV1918057single nucleotide variantNM_003119.4(SPG7):c.573G>A (p.Val191=)Hereditary spastic paraplegia 7 [RCV002606847]likely benign168952420289524202Human1name
156225871CV1981593single nucleotide variantNM_003119.4(SPG7):c.438G>A (p.Leu146=)Hereditary spastic paraplegia 7 [RCV002626614]likely benign168952406789524067Human1name
156330314CV1990964single nucleotide variantNM_003119.4(SPG7):c.80C>A (p.Pro27Gln)Hereditary spastic paraplegia 7 [RCV002630892]uncertain significance168950849789508497Human1name
156181518CV2020501single nucleotide variantNM_003119.4(SPG7):c.951C>A (p.Ala317=)Hereditary spastic paraplegia 7 [RCV002710796]likely benign168953077289530772Human1name
155960293CV2040423single nucleotide variantNM_003119.4(SPG7):c.360G>A (p.Ala120=)Hereditary spastic paraplegia 7 [RCV002776234]likely benign168951302189513021Human1name
156034783CV2047503single nucleotide variantNM_003119.4(SPG7):c.28G>A (p.Ala10Thr)Hereditary spastic paraplegia 7 [RCV002781259]uncertain significance168950844589508445Human1name
156033160CV2078983single nucleotide variantNM_003119.4(SPG7):c.750C>T (p.Phe250=)Hereditary spastic paraplegia 7 [RCV002867137]likely benign168952646089526460Human1name
155936251CV2114185single nucleotide variantNM_003119.4(SPG7):c.450T>C (p.Val150=)Hereditary spastic paraplegia 7 [RCV002904157]likely benign168952407989524079Human1name
10409936CV211738single nucleotide variantNM_003119.4(SPG7):c.58C>T (p.Arg20Trp)not provided [RCV000197155]uncertain significance168950847589508475Humanname
10410981CV211739single nucleotide variantNM_003119.4(SPG7):c.89G>A (p.Ser30Asn)Hereditary spastic paraplegia 7 [RCV000389351]|SPG7-related disorder [RCV003417714]likely benign|uncertain significance168950850689508506Human1name , alternate_id
10409238CV211740single nucleotide variantNM_003119.4(SPG7):c.95G>A (p.Gly32Glu)not specified [RCV000195712]likely benign168950851289508512Humanname
10409540CV211767deletionNM_003119.4(SPG7):c.1780-16_1780-14delHereditary spastic paraplegia 7 [RCV002054345]|Spastic Paraplegia, Recessive [RCV000287344]|not specified [RCV000196325]benign|uncertain significance168955296289552964Human2name
11349599CV242529single nucleotide variantNM_003119.4(SPG7):c.80C>G (p.Pro27Arg)Hereditary spastic paraplegia 7 [RCV000231137]|Inborn genetic diseases [RCV003243025]|not provided [RCV003482246]uncertain significance168950849789508497Human2name
401738958CV2738441single nucleotide variantNM_003119.4(SPG7):c.82G>A (p.Ala28Thr)not specified [RCV003317833]uncertain significance168950849989508499Humanname
401931546CV2796340single nucleotide variantNM_003119.4(SPG7):c.69G>A (p.Trp23Ter)SPG7-related disorder [RCV003391406]|not provided [RCV003482463]likely pathogenic|uncertain significance168950848689508486Human1name , alternate_id
401935596CV2814584single nucleotide variantNM_003119.4(SPG7):c.597A>C (p.Gly199=)not provided [RCV003413053]likely benign168952422689524226Humanname
402484145CV2900396single nucleotide variantNM_003119.4(SPG7):c.762C>T (p.Ala254=)Hereditary spastic paraplegia 7 [RCV003506807]likely benign168952948089529480Human1name
405129432CV2940048single nucleotide variantNM_003119.4(SPG7):c.52G>A (p.Gly18Ser)Hereditary spastic paraplegia 7 [RCV003618116]uncertain significance168950846989508469Human1name
405129978CV2945322single nucleotide variantNM_003119.4(SPG7):c.90T>G (p.Ser30Arg)Hereditary spastic paraplegia 7 [RCV003618172]uncertain significance168950850789508507Human1name
405130091CV2948922single nucleotide variantNM_003119.4(SPG7):c.732C>G (p.Ser244=)Hereditary spastic paraplegia 7 [RCV003618184]likely benign168952644289526442Human1name
405133853CV2979270single nucleotide variantNM_003119.4(SPG7):c.672G>A (p.Glu224=)Hereditary spastic paraplegia 7 [RCV003618606]likely benign168952638289526382Human1name
405125827CV3020387microsatelliteNM_003119.4(SPG7):c.1325-12_1325-11delHereditary spastic paraplegia 7 [RCV003617630]likely benign168954463489544635Humanname
405127217CV3040307single nucleotide variantNM_003119.4(SPG7):c.339G>A (p.Lys113=)Hereditary spastic paraplegia 7 [RCV003617664]likely benign168951300089513000Human1name
405126647CV3046442single nucleotide variantNM_003119.4(SPG7):c.372C>T (p.Asp124=)Hereditary spastic paraplegia 7 [RCV003617749]likely benign168951303389513033Human1name
405126544CV3053302single nucleotide variantNM_003119.4(SPG7):c.402C>T (p.Asp134=)Hereditary spastic paraplegia 7 [RCV003617737]likely benign168952403189524031Human1name
405136843CV3060311single nucleotide variantNM_003119.4(SPG7):c.861T>C (p.Phe287=)Hereditary spastic paraplegia 7 [RCV003618903]uncertain significance168952957989529579Human1name
405207141CV3120446single nucleotide variantNM_003119.4(SPG7):c.792C>T (p.Gly264=)Hereditary spastic paraplegia 7 [RCV003822780]likely benign168952951089529510Human1name
405200998CV3128973single nucleotide variantNM_003119.4(SPG7):c.630G>A (p.Leu210=)Hereditary spastic paraplegia 7 [RCV003822016]likely benign168952634089526340Human1name
405260120CV3186564single nucleotide variantNM_003119.4(SPG7):c.43C>T (p.Pro15Ser)not provided [RCV003884323]uncertain significance168950846089508460Humanname
11624073CV336690single nucleotide variantNM_003119.4(SPG7):c.306C>T (p.Asn102=)Hereditary spastic paraplegia 7 [RCV000381153]|not provided [RCV001539840]likely benign|conflicting interpretations of pathogenicity|uncertain significance168951296789512967Human1name
11620981CV342921single nucleotide variantNM_003119.4(SPG7):c.663G>A (p.Lys221=)Hereditary spastic paraplegia 7 [RCV000343162]conflicting interpretations of pathogenicity|uncertain significance168952637389526373Human1name
407525630CV3477819single nucleotide variantNM_003119.4(SPG7):c.49C>G (p.Pro17Ala)Inborn genetic diseases [RCV004679356]uncertain significance168950846689508466Human1name
408390804CV3521024single nucleotide variantNM_003119.4(SPG7):c.82G>C (p.Ala28Pro)not provided [RCV004762846]uncertain significance168950849989508499Humanname
596945973CV3548127single nucleotide variantNM_003119.4(SPG7):c.348G>A (p.Ser116=)not provided [RCV004809458]likely benign168951300989513009Humanname
597731657CV3607479single nucleotide variantNM_003119.4(SPG7):c.76G>C (p.Gly26Arg)Inborn genetic diseases [RCV004964101]uncertain significance168950849389508493Human1name
597848253CV3736772single nucleotide variantNM_003119.4(SPG7):c.825C>T (p.Ala275=)Hereditary spastic paraplegia 7 [RCV005065931]likely benign168952954389529543Human1name
597858349CV3769616single nucleotide variantNM_003119.4(SPG7):c.657T>C (p.Ile219=)Hereditary spastic paraplegia 7 [RCV005105658]likely benign168952636789526367Human1name
597921458CV3777360single nucleotide variantNM_003119.4(SPG7):c.480C>G (p.Thr160=)Hereditary spastic paraplegia 7 [RCV005130289]likely benign168952410989524109Human1name
597848338CV3792944single nucleotide variantNM_003119.4(SPG7):c.37C>T (p.Arg13Trp)Hereditary spastic paraplegia 7 [RCV005145080]uncertain significance168950845489508454Human1name
597946760CV3841735single nucleotide variantNM_003119.4(SPG7):c.399G>A (p.Arg133=)Hereditary spastic paraplegia 7 [RCV005189169]likely benign168952402889524028Human1name
597889436CV3856089single nucleotide variantNM_003119.4(SPG7):c.28G>C (p.Ala10Pro)Hereditary spastic paraplegia 7 [RCV005200334]uncertain significance168950844589508445Human1name
598223563CV3892136insertionNM_003119.4(SPG7):c.1150_1150+1insCTACHereditary spastic paraplegia 7 [RCV005253475]pathogenic168953206689532067Human1name
13480853CV441934single nucleotide variantNM_003119.4(SPG7):c.53G>T (p.Gly18Val)not specified [RCV000517403]uncertain significance168950847089508470Humanname
13487218CV466106single nucleotide variantNM_003119.4(SPG7):c.558G>C (p.Val186=)Hereditary spastic paraplegia 7 [RCV000531692]|SPG7-related disorder [RCV003915553]likely benign168952418789524187Human1name , alternate_id
13540177CV505670single nucleotide variantNM_003119.4(SPG7):c.483C>T (p.Ser161=)Hereditary spastic paraplegia 7 [RCV000867347]|not specified [RCV000614334]likely benign168952411289524112Human1name
13533552CV506090single nucleotide variantNM_003119.4(SPG7):c.516C>T (p.His172=)Hereditary spastic paraplegia 7 [RCV002529628]|Hereditary spastic paraplegia [RCV001848991]|not specified [RCV000607127]likely benign|uncertain significance168952414589524145Human2name
13535299CV506110deletionNM_003119.4(SPG7):c.1150+19_1150+31delnot specified [RCV000607677]likely benign168953208189532093Humanname
14715596CV645143single nucleotide variantNM_003119.4(SPG7):c.86G>A (p.Trp29Ter)Hereditary spastic paraplegia 7 [RCV000800813]|not provided [RCV001662829]pathogenic168950850389508503Human1name
14743530CV656397single nucleotide variantNM_003119.4(SPG7):c.318G>A (p.Leu106=)Hereditary spastic paraplegia 7 [RCV003617865]|not provided [RCV000842123]likely benign168951297989512979Human1name
14978239CV677259single nucleotide variantNM_003119.4(SPG7):c.87G>A (p.Trp29Ter)Hereditary spastic paraplegia 7 [RCV001391422]|Polyneuropathy [RCV000850308]pathogenic168950850489508504Human3name
15134901CV684634single nucleotide variantNM_003119.4(SPG7):c.474C>T (p.Leu158=)Hereditary spastic paraplegia 7 [RCV002538937]likely benign168952410389524103Human1name
15158210CV688680single nucleotide variantNM_003119.4(SPG7):c.360G>C (p.Ala120=)Hereditary spastic paraplegia 7 [RCV001423735]likely benign168951302189513021Human1name
21075489CV797458single nucleotide variantNM_003119.4(SPG7):c.444C>T (p.Ile148=)not provided [RCV000996403]uncertain significance168952407389524073Humanname
26901664CV844499single nucleotide variantNM_003119.4(SPG7):c.32T>C (p.Leu11Pro)Hereditary spastic paraplegia 7 [RCV001059473]uncertain significance168950844989508449Human1name
26901530CV844501single nucleotide variantNM_003119.4(SPG7):c.891T>A (p.Ile297=)Hereditary spastic paraplegia 7 [RCV001058664]likely benign|uncertain significance168953071289530712Human1name
28877739CV876183single nucleotide variantNM_003119.4(SPG7):c.763C>T (p.Leu255=)Hereditary spastic paraplegia 7 [RCV001116671]conflicting interpretations of pathogenicity|uncertain significance168952948189529481Human1name
38465058CV937663single nucleotide variantNM_003119.4(SPG7):c.40G>A (p.Gly14Ser)Hereditary spastic paraplegia 7 [RCV001201656]uncertain significance168950845789508457Human1name
38477809CV949638single nucleotide variantNM_003119.4(SPG7):c.76G>T (p.Gly26Cys)Hereditary spastic paraplegia 7 [RCV001233635]|Inborn genetic diseases [RCV005278777]|not provided [RCV003482351]uncertain significance168950849389508493Human2name
126744513CV997240single nucleotide variantNM_003119.4(SPG7):c.99C>G (p.Phe33Leu)Hereditary spastic paraplegia 7 [RCV001296267]uncertain significance168950851689508516Human1name
126730495CV1000978single nucleotide variantNM_003119.4(SPG7):c.1635C>T (p.Phe545=)Hereditary spastic paraplegia 7 [RCV005057247]|not provided [RCV001310350]likely benign168954808589548085Human1name
596945408CV1063802deletionNM_003119.4(SPG7):c.851del (p.Phe284fs)Hereditary spastic paraplegia 7 [RCV004818484]likely pathogenic168952956889529568Human1name
127254289CV1104369single nucleotide variantNM_003119.4(SPG7):c.1647G>A (p.Val549=)Hereditary spastic paraplegia 7 [RCV001437196]likely benign168954809789548097Human1name
127327177CV1146667single nucleotide variantNM_003119.4(SPG7):c.1083G>C (p.Ala361=)Hereditary spastic paraplegia 7 [RCV001506488]likely benign168953199989531999Human1name
127338003CV1146668single nucleotide variantNM_003119.4(SPG7):c.1350C>T (p.Ile450=)Hereditary spastic paraplegia 7 [RCV001493366]likely benign168954467389544673Human1name
127317681CV1146669single nucleotide variantNM_003119.4(SPG7):c.2058C>T (p.Ile686=)Hereditary spastic paraplegia 7 [RCV001483223]|not provided [RCV003883664]likely benign168955391589553915Human1name
150336262CV1166211single nucleotide variantNM_003119.4(SPG7):c.1728G>A (p.Ser576=)Hereditary spastic paraplegia 7 [RCV002070386]|Hereditary spastic paraplegia [RCV001847299]|not provided [RCV001531868]likely benign|uncertain significance168955055889550558Human2name
150462085CV1206540single nucleotide variantNM_003119.4(SPG7):c.2106A>G (p.Glu702=)not provided [RCV001586941]likely benign168955448889554488Humanname
150431759CV1246040single nucleotide variantNM_003119.4(SPG7):c.167G>A (p.Gly56Glu)Hereditary spastic paraplegia 7 [RCV002538567]|not provided [RCV001663452]pathogenic|uncertain significance168950858489508584Human1name
150446057CV1271811single nucleotide variantNM_003119.4(SPG7):c.1638G>A (p.Glu546=)not provided [RCV001691225]likely benign168954808889548088Humanname
150553027CV1298037single nucleotide variantNM_003119.4(SPG7):c.2181G>A (p.Ala727=)Hereditary spastic paraplegia 7 [RCV003507387]|not provided [RCV001768650]uncertain significance168955456389554563Human1name
150535670CV1311976single nucleotide variantNM_003119.4(SPG7):c.1587G>A (p.Ala529=)not provided [RCV001779787]likely benign168954803789548037Humanname
150546845CV1313925deletionNM_003119.4(SPG7):c.711del (p.Lys238fs)Hereditary spastic paraplegia 7 [RCV001785018]pathogenic168952642089526420Human1name
151753726CV1335829single nucleotide variantNM_003119.4(SPG7):c.1257C>T (p.Thr419=)Hereditary spastic paraplegia [RCV001848229]uncertain significance168953256989532569Human1name
151753791CV1335839single nucleotide variantNM_003119.4(SPG7):c.2385G>A (p.Lys795=)Hereditary spastic paraplegia [RCV001848239]uncertain significance168955709089557090Human1name
151753797CV1335840single nucleotide variantNM_003119.4(SPG7):c.244C>T (p.Gln82Ter)Hereditary spastic paraplegia 7 [RCV003617944]|Hereditary spastic paraplegia [RCV001848240]pathogenic|likely pathogenic168951055089510550Human2name
151859900CV1373973deletionNM_003119.4(SPG7):c.861del (p.Phe287fs)Hereditary spastic paraplegia 7 [RCV001938406]pathogenic168952957689529576Human1name
8692977CV142942single nucleotide variantNM_003119.4(SPG7):c.1032C>T (p.Gly344=)Hereditary spastic paraplegia 7 [RCV001081406]|Hereditary spastic paraplegia [RCV001847760]|not provided [RCV000416207]|not specified [RCV000128200]likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance168953194889531948Human2name
8692983CV142948single nucleotide variantNM_003119.4(SPG7):c.1770C>T (p.Ala590=)Hereditary spastic paraplegia 7 [RCV001084835]|Hereditary spastic paraplegia [RCV001847763]|not provided [RCV000713481]|not specified [RCV000128206]benign|uncertain significance168955060089550600Human2name
8692986CV142951single nucleotide variantNM_003119.4(SPG7):c.2037G>A (p.Ala679=)Hereditary spastic paraplegia 7 [RCV001082373]|Hereditary spastic paraplegia [RCV001847764]|not provided [RCV000713483]|not specified [RCV000128209]benign|uncertain significance168955389489553894Human2name
8692987CV142952single nucleotide variantNM_003119.4(SPG7):c.2280G>A (p.Pro760=)Hereditary spastic paraplegia 7 [RCV001000211]|Hereditary spastic paraplegia [RCV001847765]|not provided [RCV004704987]|not specified [RCV000128210]benign|likely benign|uncertain significance168955698589556985Human2name
8692988CV142953single nucleotide variantNM_003119.4(SPG7):c.2292C>T (p.Ile764=)Hereditary spastic paraplegia 7 [RCV001080121]|Hereditary spastic paraplegia [RCV001847766]|not provided [RCV000713485]|not specified [RCV000128211]benign168955699789556997Human2name
8692989CV142954single nucleotide variantNM_003119.4(SPG7):c.2295C>T (p.Asp765=)Hereditary spastic paraplegia 7 [RCV001086122]|Hereditary spastic paraplegia [RCV001847767]|not provided [RCV000713486]|not specified [RCV000128212]benign|likely benign|uncertain significance168955700089557000Human2name
151758489CV1438919deletionNM_003119.4(SPG7):c.749del (p.Phe250fs)Hereditary spastic paraplegia 7 [RCV002007581]pathogenic168952645889526458Human1name
151875059CV1511664single nucleotide variantNM_003119.4(SPG7):c.161A>T (p.Glu54Val)Hereditary spastic paraplegia 7 [RCV001960940]uncertain significance168950857889508578Human1name
152166555CV1524394single nucleotide variantNM_003119.4(SPG7):c.1419G>T (p.Arg473=)Hereditary spastic paraplegia 7 [RCV002141949]likely benign168954474289544742Human1name
152025671CV1527860single nucleotide variantNM_003119.4(SPG7):c.1080G>A (p.Lys360=)Hereditary spastic paraplegia 7 [RCV002084541]likely benign168953199689531996Human1name
152058593CV1531927single nucleotide variantNM_003119.4(SPG7):c.2253C>T (p.Pro751=)Hereditary spastic paraplegia 7 [RCV002089992]likely benign168955695889556958Human1name
152126376CV1533781single nucleotide variantNM_003119.4(SPG7):c.1305G>A (p.Gln435=)Hereditary spastic paraplegia 7 [RCV002136370]likely benign168953261789532617Human1name
152148912CV1545295single nucleotide variantNM_003119.4(SPG7):c.1050C>T (p.Pro350=)Hereditary spastic paraplegia 7 [RCV002121469]likely benign168953196689531966Human1name
152108338CV1550780single nucleotide variantNM_003119.4(SPG7):c.1626T>A (p.Thr542=)Hereditary spastic paraplegia 7 [RCV002152709]likely benign168954807689548076Human1name
152161583CV1555451single nucleotide variantNM_003119.4(SPG7):c.1695G>A (p.Lys565=)Hereditary spastic paraplegia 7 [RCV002103898]likely benign168955052589550525Human1name
152087323CV1601194single nucleotide variantNM_003119.4(SPG7):c.2247G>A (p.Pro749=)Hereditary spastic paraplegia 7 [RCV002093669]likely benign168955695289556952Human1name
152075543CV1635424single nucleotide variantNM_003119.4(SPG7):c.1737C>G (p.Ala579=)Hereditary spastic paraplegia 7 [RCV002092171]likely benign168955056789550567Human1name
152135394CV1638556single nucleotide variantNM_003119.4(SPG7):c.1053C>G (p.Pro351=)Hereditary spastic paraplegia 7 [RCV002083433]likely benign168953196989531969Human1name
155800856CV1863851single nucleotide variantNM_003119.4(SPG7):c.1248G>A (p.Lys416=)Hereditary spastic paraplegia 7 [RCV002574692]|not provided [RCV002474274]likely benign|uncertain significance168953256089532560Human1name
155949855CV1869494single nucleotide variantNM_003119.4(SPG7):c.146C>T (p.Pro49Leu)Hereditary spastic paraplegia 7 [RCV003074082]uncertain significance168950856389508563Human1name
156157169CV1875538single nucleotide variantNM_003119.4(SPG7):c.1584T>C (p.Ala528=)Hereditary spastic paraplegia 7 [RCV003056756]likely benign168954803489548034Human1name
156310008CV1878132single nucleotide variantNM_003119.4(SPG7):c.1393C>T (p.Leu465=)Hereditary spastic paraplegia 7 [RCV003062395]likely benign168954471689544716Human1name
156051140CV1884433single nucleotide variantNM_003119.4(SPG7):c.2013C>T (p.Ile671=)Hereditary spastic paraplegia 7 [RCV003078878]likely benign168955387089553870Human1name
156022989CV1899497single nucleotide variantNM_003119.4(SPG7):c.1803C>T (p.Asn601=)Hereditary spastic paraplegia 7 [RCV003100290]likely benign168955300289553002Human1name
156418758CV1918724single nucleotide variantNM_003119.4(SPG7):c.2173T>C (p.Leu725=)Hereditary spastic paraplegia 7 [RCV002611966]likely benign168955455589554555Human1name
155948333CV1921764single nucleotide variantNM_003119.4(SPG7):c.1365G>A (p.Thr455=)Hereditary spastic paraplegia 7 [RCV002616076]benign168954468889544688Human1name
10050720CV192355single nucleotide variantNM_003119.4(SPG7):c.234G>T (p.Leu78Phe)Hereditary spastic paraplegia 7 [RCV002056943]|not provided [RCV000175748]likely benign|uncertain significance168951054089510540Human1name
156449207CV1944465single nucleotide variantNM_003119.4(SPG7):c.1486C>T (p.Leu496=)Hereditary spastic paraplegia 7 [RCV003121320]likely benign168954669489546694Human1name
10053207CV195942single nucleotide variantNM_003119.4(SPG7):c.1083G>A (p.Ala361=)Hereditary spastic paraplegia 7 [RCV001085115]|Hereditary spastic paraplegia [RCV001847819]|SPG7-related disorder [RCV003937635]|not provided [RCV000724712]|not specified [RCV000195569]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance168953199989531999Human2name , alternate_id
156118925CV1982649single nucleotide variantNM_003119.4(SPG7):c.1974C>G (p.Ala658=)Hereditary spastic paraplegia 7 [RCV002622868]likely benign168955383189553831Human1name
155944416CV2003063single nucleotide variantNM_003119.4(SPG7):c.270A>C (p.Arg90Ser)Hereditary spastic paraplegia 7 [RCV002685660]|Inborn genetic diseases [RCV002685661]|not provided [RCV005429393]uncertain significance168951057689510576Human2name
155991428CV2049647single nucleotide variantNM_003119.4(SPG7):c.1116G>C (p.Ala372=)Hereditary spastic paraplegia 7 [RCV002819223]likely benign168953203289532032Human1name
156009414CV2051323single nucleotide variantNM_003119.4(SPG7):c.184A>C (p.Ser62Arg)Hereditary spastic paraplegia 7 [RCV002820042]uncertain significance168951049089510490Human1name
156314922CV2074797single nucleotide variantNM_003119.4(SPG7):c.1797G>T (p.Arg599=)Hereditary spastic paraplegia 7 [RCV002834342]likely benign|uncertain significance168955299689552996Human1name
156036530CV2097761single nucleotide variantNM_003119.4(SPG7):c.1641C>T (p.Tyr547=)Hereditary spastic paraplegia 7 [RCV002885629]likely benign168954809189548091Human1name
156309407CV2109432single nucleotide variantNM_003119.4(SPG7):c.1116G>A (p.Ala372=)Hereditary spastic paraplegia 7 [RCV002922985]likely benign168953203289532032Human1name
10410729CV211742single nucleotide variantNM_003119.4(SPG7):c.220G>A (p.Gly74Arg)Hereditary spastic paraplegia 7 [RCV000765319]|Hereditary spastic paraplegia [RCV001847887]|not provided [RCV000198775]|not specified [RCV003993885]conflicting interpretations of pathogenicity|uncertain significance168951052689510526Human2name
10409446CV211761single nucleotide variantNM_003119.4(SPG7):c.1653C>T (p.Arg551=)Hereditary spastic paraplegia 7 [RCV001088894]|Hereditary spastic paraplegia [RCV001847884]|not provided [RCV003221854]|not specified [RCV000196125]benign|uncertain significance168954810389548103Human2name
156027870CV2131452single nucleotide variantNM_003119.4(SPG7):c.2334C>T (p.Thr778=)Hereditary spastic paraplegia 7 [RCV002976472]likely benign168955703989557039Human1name
156309766CV2133135single nucleotide variantNM_003119.4(SPG7):c.1443G>A (p.Thr481=)Hereditary spastic paraplegia 7 [RCV003011040]|not provided [RCV003883859]likely benign168954476689544766Human1name
156259307CV2138517single nucleotide variantNM_003119.4(SPG7):c.1440C>A (p.Pro480=)Hereditary spastic paraplegia 7 [RCV002988409]likely benign168954476389544763Human1name
155936442CV2149967single nucleotide variantNM_003119.4(SPG7):c.132G>T (p.Met44Ile)Hereditary spastic paraplegia 7 [RCV003013972]uncertain significance168950854989508549Human1name
155934217CV2153409single nucleotide variantNM_003119.4(SPG7):c.1680C>T (p.Ser560=)Hereditary spastic paraplegia 7 [RCV003013816]likely benign168955051089550510Human1name
156001397CV2168144deletionNM_003119.4(SPG7):c.960del (p.Val321fs)Hereditary spastic paraplegia 7 [RCV003034792]pathogenic168953078089530780Human1name
8597268CV21855single nucleotide variantNM_003119.4(SPG7):c.233T>A (p.Leu78Ter)Hereditary spastic paraplegia 7 [RCV000007218]|Hereditary spastic paraplegia [RCV001847594]|Proximal spinal muscular atrophy [RCV000664258]|Retinal dystrophy [RCV004814852]|SPG7-related disorder [RCV004752689]|not provided [RCV000200640]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance168951053989510539Human6name , alternate_id
156127295CV2185732single nucleotide variantNM_003119.4(SPG7):c.1887C>G (p.Ala629=)Hereditary spastic paraplegia 7 [RCV003055700]likely benign168955308689553086Human1name
156260550CV2274194single nucleotide variantNM_003119.4(SPG7):c.197G>T (p.Arg66Ile)Inborn genetic diseases [RCV002831681]uncertain significance168951050389510503Human1name
243061395CV2408932single nucleotide variantNM_003119.4(SPG7):c.101C>T (p.Pro34Leu)Hereditary spastic paraplegia 7 [RCV003138649]uncertain significance168950851889508518Human1name
243049636CV2417028single nucleotide variantNM_003119.4(SPG7):c.1923C>T (p.Asn641=)Hereditary spastic paraplegia 7 [RCV003151701]conflicting interpretations of pathogenicity|uncertain significance168955312289553122Human1name
11349241CV242531single nucleotide variantNM_003119.4(SPG7):c.1242C>G (p.Gly414=)Hereditary spastic paraplegia 7 [RCV001476783]likely benign168953255489532554Human1name
11551569CV255960single nucleotide variantNM_003119.4(SPG7):c.1422C>T (p.His474=)Hereditary spastic paraplegia 7 [RCV002518624]|Hereditary spastic paraplegia [RCV001848025]|not provided [RCV001528894]|not specified [RCV000253214]likely benign168954474589544745Human2name
11547356CV255963single nucleotide variantNM_003119.4(SPG7):c.1764G>A (p.Thr588=)Hereditary spastic paraplegia 7 [RCV001497050]|not provided [RCV001589258]|not specified [RCV000247647]likely benign168955059489550594Human1name
401739913CV2684210single nucleotide variantNM_003119.4(SPG7):c.119G>T (p.Gly40Val)Inborn genetic diseases [RCV003240515]uncertain significance168950853689508536Human1name
401741038CV2702737single nucleotide variantNM_003119.4(SPG7):c.190C>G (p.Gln64Glu)Inborn genetic diseases [RCV003292508]uncertain significance168951049689510496Human1name
401729753CV2736552deletionNM_003119.4(SPG7):c.808del (p.Tyr270fs)Hereditary spastic paraplegia 7 [RCV003313013]pathogenic168952952689529526Human1name
401924580CV2804970single nucleotide variantNM_003119.4(SPG7):c.124C>T (p.Pro42Ser)Hereditary spastic paraplegia 7 [RCV003618077]|not specified [RCV003404789]uncertain significance168950854189508541Human1name
401935598CV2814587single nucleotide variantNM_003119.4(SPG7):c.1296G>A (p.Thr432=)Hereditary spastic paraplegia 7 [RCV003778395]|not provided [RCV003413055]likely benign168953260889532608Human1name
401935599CV2814588single nucleotide variantNM_003119.4(SPG7):c.1350C>A (p.Ile450=)not provided [RCV003413056]likely benign168954467389544673Humanname
402490319CV2864170single nucleotide variantNM_003119.4(SPG7):c.1044C>T (p.Leu348=)Hereditary spastic paraplegia 7 [RCV003507560]likely benign168953196089531960Human1name
402496125CV2867283single nucleotide variantNM_003119.4(SPG7):c.1773G>C (p.Val591=)Hereditary spastic paraplegia 7 [RCV003508145]likely benign168955060389550603Human1name
402501421CV2887333single nucleotide variantNM_003119.4(SPG7):c.1230C>A (p.Ile410=)Hereditary spastic paraplegia 7 [RCV003508767]likely benign168953254289532542Human1name
402502667CV2895486single nucleotide variantNM_003119.4(SPG7):c.1047C>A (p.Gly349=)Hereditary spastic paraplegia 7 [RCV003508908]likely benign168953196389531963Human1name
402484849CV2907549single nucleotide variantNM_003119.4(SPG7):c.1455G>A (p.Arg485=)Hereditary spastic paraplegia 7 [RCV003506872]likely benign168954666389546663Human1name
402493186CV2929283single nucleotide variantNM_003119.4(SPG7):c.297C>G (p.Phe99Leu)Hereditary spastic paraplegia 7 [RCV003507863]uncertain significance168951295889512958Human1name
405127261CV3034651single nucleotide variantNM_003119.4(SPG7):c.1668T>G (p.Thr556=)Hereditary spastic paraplegia 7 [RCV003617659]likely benign168955049889550498Human1name
405126181CV3035759single nucleotide variantNM_003119.4(SPG7):c.132G>A (p.Met44Ile)Hereditary spastic paraplegia 7 [RCV003617695]uncertain significance168950854989508549Human1name
405127379CV3053976single nucleotide variantNM_003119.4(SPG7):c.2322C>T (p.Gly774=)Hereditary spastic paraplegia 7 [RCV003617778]likely benign168955702789557027Human1name
405139483CV3078863single nucleotide variantNM_003119.4(SPG7):c.100C>A (p.Pro34Thr)Hereditary spastic paraplegia 7 [RCV003619028]uncertain significance168950851789508517Human1name
405138549CV3079538single nucleotide variantNM_003119.4(SPG7):c.248A>G (p.His83Arg)Hereditary spastic paraplegia 7 [RCV003619070]uncertain significance168951055489510554Human1name
405249628CV3170036single nucleotide variantNM_003119.4(SPG7):c.1728G>C (p.Ser576=)Hereditary spastic paraplegia 7 [RCV003869665]likely benign168955055889550558Human1name
404984511CV3183656single nucleotide variantNM_003119.4(SPG7):c.1497C>A (p.Thr499=)Hereditary spastic paraplegia 7 [RCV003880933]likely benign168954670589546705Human1name
405293101CV3221272single nucleotide variantNM_003119.4(SPG7):c.1155C>T (p.Leu385=)SPG7-related disorder [RCV003966798]likely benign168953246789532467Humanname , trait , alternate_id
405735459CV3323113single nucleotide variantNM_003119.4(SPG7):c.211A>G (p.Thr71Ala)Inborn genetic diseases [RCV004464885]|not provided [RCV005104718]uncertain significance168951051789510517Human1name
405735466CV3323114single nucleotide variantNM_003119.4(SPG7):c.229G>A (p.Gly77Arg)Inborn genetic diseases [RCV004464886]uncertain significance168951053589510535Human1name
11614096CV336697single nucleotide variantNM_003119.4(SPG7):c.1359G>A (p.Ala453=)Hereditary spastic paraplegia 7 [RCV000274144]|not specified [RCV000419596]likely benign|conflicting interpretations of pathogenicity|uncertain significance168954468289544682Human1name
11623481CV336701single nucleotide variantNM_003119.4(SPG7):c.1971C>T (p.Ile657=)Hereditary spastic paraplegia 7 [RCV000373621]conflicting interpretations of pathogenicity|uncertain significance168955382889553828Human1name
11618361CV336703single nucleotide variantNM_003119.4(SPG7):c.2083C>T (p.Leu695=)Hereditary spastic paraplegia 7 [RCV000313068]uncertain significance168955394089553940Human1name
405854116CV3393777single nucleotide variantNM_003119.4(SPG7):c.197G>A (p.Arg66Lys)not provided [RCV004547003]uncertain significance168951050389510503Humanname
405854476CV3393933single nucleotide variantNM_003119.4(SPG7):c.139A>G (p.Arg47Gly)not provided [RCV004547159]uncertain significance168950855689508556Humanname
408394776CV3395412deletionNM_003119.4(SPG7):c.784del (p.Ala262fs)Hereditary spastic paraplegia 7 [RCV004765044]likely pathogenic168952950189529501Human1name
408394799CV3395435deletionNM_003119.4(SPG7):c.654del (p.Asn218fs)Hereditary spastic paraplegia 7 [RCV004765067]likely pathogenic168952636489526364Human1name
596945332CV3401468deletionNM_003119.4(SPG7):c.694del (p.Glu232fs)Hereditary spastic paraplegia 7 [RCV004818488]|Retinal dystrophy [RCV004818489]pathogenic|likely pathogenic168952640489526404Human3name
596932986CV3539614single nucleotide variantNM_003119.4(SPG7):c.279A>C (p.Gln93His)Hereditary spastic paraplegia 7 [RCV005105104]|not provided [RCV004794239]uncertain significance168951058589510585Human1name
597731665CV3607480single nucleotide variantNM_003119.4(SPG7):c.175G>C (p.Ala59Pro)Inborn genetic diseases [RCV004964102]uncertain significance168950859289508592Human1name
597714315CV3711971deletionNM_003119.4(SPG7):c.297del (p.Tyr100fs)Hereditary spastic paraplegia 7 [RCV005010068]likely pathogenic168951295889512958Human1name
597834662CV3739533single nucleotide variantNM_003119.4(SPG7):c.1563C>T (p.Ile521=)Hereditary spastic paraplegia 7 [RCV005063752]likely benign168954801389548013Human1name
597929643CV3742104single nucleotide variantNM_003119.4(SPG7):c.1233C>T (p.Asp411=)Hereditary spastic paraplegia 7 [RCV005075736]likely benign168953254589532545Human1name
597932761CV3742676single nucleotide variantNM_003119.4(SPG7):c.176C>T (p.Ala59Val)Hereditary spastic paraplegia 7 [RCV005076115]uncertain significance168950859389508593Human1name
12836381CV374763single nucleotide variantNM_003119.4(SPG7):c.1656C>T (p.Val552=)not provided [RCV001720104]likely benign168954810689548106Humanname
12840249CV374766single nucleotide variantNM_003119.4(SPG7):c.1830C>T (p.Leu610=)Hereditary spastic paraplegia 7 [RCV001085526]|not provided [RCV000584949]likely benign|conflicting interpretations of pathogenicity|uncertain significance168955302989553029Human1name
597891505CV3749387single nucleotide variantNM_003119.4(SPG7):c.1251C>T (p.Arg417=)Hereditary spastic paraplegia 7 [RCV005071171]likely benign168953256389532563Human1name
12836796CV375639single nucleotide variantNM_003119.4(SPG7):c.244C>G (p.Gln82Glu)Hereditary spastic paraplegia 7 [RCV002524804]|Inborn genetic diseases [RCV002521540]|not specified [RCV000424051]benign|likely benign|uncertain significance168951055089510550Human2name
12836907CV375820single nucleotide variantNM_003119.4(SPG7):c.1593C>T (p.His531=)Hereditary spastic paraplegia 7 [RCV001446058]|SPG7-related disorder [RCV003970245]|not provided [RCV001200611]likely benign168954804389548043Human1name , alternate_id
12836488CV375823single nucleotide variantNM_003119.4(SPG7):c.1890G>A (p.Leu630=)not specified [RCV000423475]likely benign168955308989553089Humanname
12842224CV375830single nucleotide variantNM_003119.4(SPG7):c.2250G>A (p.Pro750=)Hereditary spastic paraplegia 7 [RCV003507277]|not provided [RCV001720125]likely benign168955695589556955Human1name
597839739CV3758410single nucleotide variantNM_003119.4(SPG7):c.1905G>T (p.Ser635=)Hereditary spastic paraplegia 7 [RCV005086245]likely benign168955310489553104Human1name
12838731CV377977single nucleotide variantNM_003119.4(SPG7):c.1953G>A (p.Leu651=)not specified [RCV000427495]likely benign168955381089553810Humanname
597852230CV3824754single nucleotide variantNM_003119.4(SPG7):c.158C>G (p.Ala53Gly)Hereditary spastic paraplegia 7 [RCV005173793]uncertain significance168950857589508575Human1name
597957071CV3838413single nucleotide variantNM_003119.4(SPG7):c.1716G>A (p.Ala572=)Hereditary spastic paraplegia 7 [RCV005191788]likely benign168955054689550546Human1name
597922432CV3843248single nucleotide variantNM_003119.4(SPG7):c.1806C>T (p.Ala602=)Hereditary spastic paraplegia 7 [RCV005184540]likely benign168955300589553005Human1name
597918920CV3861621single nucleotide variantNM_003119.4(SPG7):c.1242C>T (p.Gly414=)Hereditary spastic paraplegia 7 [RCV005204777]likely benign168953255489532554Human1name
598227336CV3894495single nucleotide variantNM_003119.4(SPG7):c.2010C>T (p.Gly670=)not provided [RCV005257738]uncertain significance168955386789553867Humanname
598262942CV3919191single nucleotide variantNM_003119.4(SPG7):c.116G>C (p.Arg39Thr)Inborn genetic diseases [RCV005280345]uncertain significance168950853389508533Human1name
598178325CV4008425single nucleotide variantNM_003119.4(SPG7):c.259A>G (p.Asn87Asp)Hereditary spastic paraplegia 7 [RCV005393944]uncertain significance168951056589510565Human1name
12897927CV401362single nucleotide variantNM_003119.4(SPG7):c.185G>A (p.Ser62Asn)Hereditary spastic paraplegia 7 [RCV000469479]|not provided [RCV000591290]uncertain significance168951049189510491Human1name
616937992CV4014759single nucleotide variantNM_003119.4(SPG7):c.188T>C (p.Leu63Ser)not provided [RCV005411775]uncertain significance168951049489510494Humanname
12897625CV402138single nucleotide variantNM_003119.4(SPG7):c.2142C>T (p.Thr714=)Hereditary spastic paraplegia 7 [RCV001439834]|not provided [RCV000465167]likely benign168955452489554524Human1name
13481813CV466849single nucleotide variantNM_003119.4(SPG7):c.1644C>T (p.Ala548=)Hereditary spastic paraplegia 7 [RCV000551595]|not provided [RCV004704069]|not specified [RCV000615515]likely benign168954809489548094Human1name
13533942CV505677single nucleotide variantNM_003119.4(SPG7):c.1929C>T (p.Val643=)not specified [RCV000601795]likely benign168955312889553128Humanname
13525889CV505860single nucleotide variantNM_003119.4(SPG7):c.1068G>A (p.Thr356=)Hereditary spastic paraplegia 7 [RCV002528701]|not specified [RCV000603521]likely benign168953198489531984Human1name
13526951CV505868single nucleotide variantNM_003119.4(SPG7):c.2178G>A (p.Gln726=)not specified [RCV000604811]likely benign168955456089554560Humanname
13536796CV506113single nucleotide variantNM_003119.4(SPG7):c.2298C>G (p.Ala766=)Hereditary spastic paraplegia 7 [RCV001439836]|not specified [RCV000609510]likely benign168955700389557003Human1name
13528027CV506632single nucleotide variantNM_003119.4(SPG7):c.1014C>T (p.Gly338=)Hereditary spastic paraplegia 7 [RCV005091738]|not specified [RCV000599948]likely benign168953193089531930Human1name
13536163CV506633single nucleotide variantNM_003119.4(SPG7):c.1197C>T (p.Ala399=)Hereditary spastic paraplegia 7 [RCV003507302]|not provided [RCV000865851]likely benign168953250989532509Human1name
13813536CV568462microsatelliteNM_003119.4(SPG7):c.9GCT[6] (p.Leu8dup)Hereditary spastic paraplegia 7 [RCV000704426]|Hereditary spastic paraplegia [RCV001849069]|Optic atrophy [RCV004817941]|Retinal dystrophy [RCV004817940]|not provided [RCV000761967]uncertain significance168950842489508425Humanname
13801769CV577603single nucleotide variantNM_003119.4(SPG7):c.1053C>T (p.Pro351=)Hereditary spastic paraplegia 7 [RCV001413865]|SPG7-related disorder [RCV003945733]|not provided [RCV000713478]|not specified [RCV001644782]likely benign168953196989531969Human1name , alternate_id
14712930CV645144single nucleotide variantNM_003119.4(SPG7):c.161A>G (p.Glu54Gly)Hereditary spastic paraplegia 7 [RCV000791714]|not provided [RCV003334009]uncertain significance168950857889508578Human1name
14702337CV645147single nucleotide variantNM_003119.4(SPG7):c.1596G>A (p.Ala532=)Hereditary spastic paraplegia 7 [RCV000823549]likely benign|uncertain significance168954804689548046Human1name
15130881CV684635single nucleotide variantNM_003119.4(SPG7):c.1275C>T (p.Ser425=)Hereditary spastic paraplegia 7 [RCV000863512]|not provided [RCV004705807]likely benign168953258789532587Human1name
15148336CV688681single nucleotide variantNM_003119.4(SPG7):c.1812G>A (p.Leu604=)Hereditary spastic paraplegia 7 [RCV000866643]likely benign168955301189553011Human1name
15124716CV693974single nucleotide variantNM_003119.4(SPG7):c.1026A>G (p.Pro342=)not provided [RCV000874821]likely benign168953194289531942Humanname
15132127CV693975single nucleotide variantNM_003119.4(SPG7):c.1092G>A (p.Thr364=)Hereditary spastic paraplegia 7 [RCV001473208]likely benign168953200889532008Human1name
15129466CV693976single nucleotide variantNM_003119.4(SPG7):c.1740G>A (p.Leu580=)not provided [RCV000875651]likely benign168955057089550570Humanname
15176593CV726948single nucleotide variantNM_003119.4(SPG7):c.2046C>T (p.Gly682=)not provided [RCV000884618]likely benign168955390389553903Humanname
15124228CV740524single nucleotide variantNM_003119.4(SPG7):c.1911A>T (p.Ala637=)not provided [RCV000896549]likely benign168955311089553110Humanname
15109020CV755562single nucleotide variantNM_003119.4(SPG7):c.1254C>T (p.Ser418=)Hereditary spastic paraplegia 7 [RCV002542140]likely benign168953256689532566Human1name
15184499CV771205single nucleotide variantNM_003119.4(SPG7):c.1266C>G (p.Ser422=)Hereditary spastic paraplegia 7 [RCV001485260]likely benign168953257889532578Human1name
15113712CV785443single nucleotide variantNM_003119.4(SPG7):c.1005C>T (p.Leu335=)Hereditary spastic paraplegia 7 [RCV001466772]likely benign168953192189531921Human1name
15127145CV785444single nucleotide variantNM_003119.4(SPG7):c.1191C>G (p.Ala397=)Hereditary spastic paraplegia 7 [RCV000980497]likely benign168953250389532503Human1name
21071495CV793652single nucleotide variantNM_003119.4(SPG7):c.152A>T (p.Asp51Val)not provided [RCV000993071]uncertain significance168950856989508569Humanname
21075487CV797456single nucleotide variantNM_003119.4(SPG7):c.297C>A (p.Phe99Leu)not provided [RCV000996401]uncertain significance168951295889512958Humanname
21075493CV797462single nucleotide variantNM_003119.4(SPG7):c.1599G>A (p.Ala533=)Hereditary spastic paraplegia 7 [RCV001499192]|not provided [RCV000996410]|not specified [RCV001664597]likely benign|uncertain significance168954804989548049Human1name
21075494CV797463single nucleotide variantNM_003119.4(SPG7):c.1929C>A (p.Val643=)Hereditary spastic paraplegia 7 [RCV002550694]|not provided [RCV000996412]uncertain significance168955312889553128Human1name
28878018CV860324single nucleotide variantNM_003119.4(SPG7):c.182A>G (p.Gln61Arg)Hereditary spastic paraplegia 7 [RCV001196946]|not provided [RCV001090549]uncertain significance168950859989508599Human1name
28882367CV876184single nucleotide variantNM_003119.4(SPG7):c.1149A>T (p.Gly383=)Hereditary spastic paraplegia 7 [RCV001118112]uncertain significance168953206589532065Human1name
28882375CV876186single nucleotide variantNM_003119.4(SPG7):c.1236G>A (p.Ala412=)Hereditary spastic paraplegia 7 [RCV001118114]conflicting interpretations of pathogenicity|uncertain significance168953254889532548Human1name
28882377CV876187single nucleotide variantNM_003119.4(SPG7):c.1257C>G (p.Thr419=)Hereditary spastic paraplegia 7 [RCV001118115]uncertain significance168953256989532569Human1name
28882381CV876188single nucleotide variantNM_003119.4(SPG7):c.1266C>T (p.Ser422=)Hereditary spastic paraplegia 7 [RCV001118116]conflicting interpretations of pathogenicity|uncertain significance168953257889532578Human1name
28887532CV876189single nucleotide variantNM_003119.4(SPG7):c.1354C>T (p.Leu452=)Hereditary spastic paraplegia 7 [RCV001119655]uncertain significance168954467789544677Human1name
28882736CV876193single nucleotide variantNM_003119.4(SPG7):c.2274C>T (p.Ile758=)Hereditary spastic paraplegia 7 [RCV001118226]conflicting interpretations of pathogenicity|uncertain significance168955697989556979Human1name
28882739CV876194single nucleotide variantNM_003119.4(SPG7):c.2283G>A (p.Gln761=)Hereditary spastic paraplegia 7 [RCV001118227]uncertain significance168955698889556988Human1name
28882743CV876195single nucleotide variantNM_003119.4(SPG7):c.2370G>A (p.Glu790=)Hereditary spastic paraplegia 7 [RCV001118228]|not provided [RCV001530872]likely benign|uncertain significance168955707589557075Human1name
28882746CV876196single nucleotide variantNM_003119.4(SPG7):c.2373G>A (p.Pro791=)Hereditary spastic paraplegia 7 [RCV001118229]conflicting interpretations of pathogenicity|uncertain significance168955707889557078Human1name
38466210CV937664duplicationNM_003119.4(SPG7):c.934dup (p.Ala312fs)Hereditary spastic paraplegia 7 [RCV001201827]|not provided [RCV001289255]pathogenic168953075389530754Human1name
38471655CV949640deletionNM_003119.4(SPG7):c.596del (p.Gly199fs)Hereditary spastic paraplegia 7 [RCV001231276]pathogenic168952422489524224Human1name
38490879CV957925single nucleotide variantNM_003119.4(SPG7):c.1281G>A (p.Thr427=)Hereditary spastic paraplegia 7 [RCV001239104]likely benign|uncertain significance168953259389532593Human1name
38597987CV964463single nucleotide variantNM_003119.4(SPG7):c.164C>A (p.Ala55Asp)Hereditary spastic paraplegia 7 [RCV001253297]uncertain significance168950858189508581Human1name
126730473CV1000974single nucleotide variantNM_003119.4(SPG7):c.614G>A (p.Arg205Gln)not provided [RCV001310345]uncertain significance168952424389524243Humanname
126730500CV1000979deletionNM_003119.4(SPG7):c.1998del (p.Met667fs)Hereditary spastic paraplegia 7 [RCV004815326]|not provided [RCV001310351]likely pathogenic168955385389553853Human1name
150447323CV1015242deletionNM_003119.4(SPG7):c.73_80del (p.Pro25fs)Hereditary spastic paraplegia 7 [RCV001647143]pathogenic168950848989508496Human1name
126725145CV1032988single nucleotide variantNM_003119.4(SPG7):c.529A>G (p.Lys177Glu)Hereditary spastic paraplegia 7 [RCV001348056]uncertain significance168952415889524158Human1name
126909429CV1036682single nucleotide variantNM_003119.4(SPG7):c.454A>G (p.Met152Val)Hereditary spastic paraplegia 7 [RCV001353162]|not provided [RCV002070220]conflicting interpretations of pathogenicity|uncertain significance168952408389524083Human1name
126916757CV1049968single nucleotide variantNM_003119.4(SPG7):c.392G>A (p.Arg131His)Hereditary spastic paraplegia 7 [RCV001360768]uncertain significance168952402189524021Human1name
126924114CV1049969single nucleotide variantNM_003119.4(SPG7):c.547G>A (p.Val183Ile)Hereditary spastic paraplegia 7 [RCV001366647]|not provided [RCV004692646]likely benign|uncertain significance168952417689524176Human1name
127288817CV1152744single nucleotide variantNM_003119.4(SPG7):c.323A>G (p.Gln108Arg)not provided [RCV001508797]uncertain significance168951298489512984Humanname
150551069CV1292464single nucleotide variantNM_003119.4(SPG7):c.359C>T (p.Ala120Val)Hereditary spastic paraplegia 7 [RCV003507384]|not provided [RCV001754071]uncertain significance168951302089513020Human1name
150548855CV1293939single nucleotide variantNM_003119.4(SPG7):c.416G>A (p.Arg139Gln)Hereditary spastic paraplegia 7 [RCV002539900]|not provided [RCV001764778]uncertain significance168952404589524045Human1name
150551773CV1295231single nucleotide variantNM_003119.4(SPG7):c.313A>T (p.Arg105Trp)not provided [RCV001754524]uncertain significance168951297489512974Humanname
150551121CV1297188single nucleotide variantNM_003119.4(SPG7):c.601G>A (p.Val201Met)SPG7-related disorder [RCV003900865]|not provided [RCV001766870]uncertain significance168952423089524230Human1name , alternate_id
150546847CV1313926single nucleotide variantNM_003119.4(SPG7):c.415C>T (p.Arg139Ter)Hereditary spastic paraplegia 7 [RCV001785019]|not provided [RCV004809673]pathogenic|likely pathogenic168952404489524044Human1name
151753816CV1335844single nucleotide variantNM_003119.4(SPG7):c.706G>A (p.Glu236Lys)Hereditary spastic paraplegia [RCV001848244]uncertain significance168952641689526416Human1name
151731590CV1335845single nucleotide variantNM_003119.4(SPG7):c.878C>T (p.Ala293Val)Hereditary spastic paraplegia 7 [RCV001885412]|Hereditary spastic paraplegia [RCV001848245]conflicting interpretations of pathogenicity|uncertain significance168953069989530699Human2name
151863889CV1374508single nucleotide variantNM_003119.4(SPG7):c.971T>C (p.Phe324Ser)Hereditary spastic paraplegia 7 [RCV001884295]likely pathogenic|uncertain significance168953079289530792Human1name
151856995CV1377528single nucleotide variantNM_003119.4(SPG7):c.682G>A (p.Ala228Thr)Hereditary spastic paraplegia 7 [RCV001923520]uncertain significance168952639289526392Human1name
151859332CV1389597deletionNM_003119.4(SPG7):c.1053del (p.Gly352fs)Hereditary spastic paraplegia 7 [RCV001905081]pathogenic|likely pathogenic168953196389531963Human1name
151708860CV1414571single nucleotide variantNM_003119.4(SPG7):c.847G>A (p.Gly283Arg)Hereditary spastic paraplegia 7 [RCV001870698]uncertain significance168952956589529565Human1name
151787826CV1419602single nucleotide variantNM_003119.4(SPG7):c.619C>T (p.Arg207Trp)Hereditary spastic paraplegia 7 [RCV001951740]|Retinal dystrophy [RCV004816837]|SPG7-related disorder [RCV004753451]|not provided [RCV004793657]uncertain significance168952632989526329Human3name , alternate_id
8692975CV142940single nucleotide variantNM_003119.4(SPG7):c.881G>A (p.Arg294His)Hereditary spastic paraplegia 7 [RCV001001627]|not provided [RCV000713488]|not specified [RCV000128198]benign168953070289530702Human1name
151818002CV1441282single nucleotide variantNM_003119.4(SPG7):c.767A>T (p.Tyr256Phe)Hereditary spastic paraplegia 7 [RCV001933866]uncertain significance168952948589529485Human1name
151850344CV1452084single nucleotide variantNM_003119.4(SPG7):c.764T>A (p.Leu255Gln)Hereditary spastic paraplegia 7 [RCV002016493]uncertain significance168952948289529482Human1name
151850885CV1452181single nucleotide variantNM_003119.4(SPG7):c.560C>T (p.Pro187Leu)Hereditary spastic paraplegia 7 [RCV002016568]uncertain significance168952418989524189Human1name
151781445CV1458306deletionNM_003119.4(SPG7):c.1124del (p.Gly375fs)Hereditary spastic paraplegia 7 [RCV001951115]pathogenic168953203989532039Human1name
151811799CV1515716single nucleotide variantNM_003119.4(SPG7):c.829A>T (p.Met277Leu)Hereditary spastic paraplegia 7 [RCV002012510]uncertain significance168952954789529547Human1name
152046088CV1670382single nucleotide variantNM_003119.4(SPG7):c.784G>C (p.Ala262Pro)Hereditary spastic paraplegia 7 [RCV002225234]uncertain significance168952950289529502Human1name
156045815CV1868702single nucleotide variantNM_003119.4(SPG7):c.375A>C (p.Glu125Asp)Hereditary spastic paraplegia 7 [RCV003052821]uncertain significance168951303689513036Human1name
156169290CV1874008single nucleotide variantNM_003119.4(SPG7):c.355A>C (p.Lys119Gln)Hereditary spastic paraplegia 7 [RCV003083178]uncertain significance168951301689513016Human1name
156393977CV1876277single nucleotide variantNM_003119.4(SPG7):c.967G>A (p.Glu323Lys)Hereditary spastic paraplegia 7 [RCV003068365]uncertain significance168953078889530788Human1name
156316679CV1879520single nucleotide variantNM_003119.4(SPG7):c.696G>T (p.Glu232Asp)Hereditary spastic paraplegia 7 [RCV003062789]uncertain significance168952640689526406Human1name
156033019CV1889925single nucleotide variantNM_003119.4(SPG7):c.730T>G (p.Ser244Ala)Hereditary spastic paraplegia 7 [RCV003078191]uncertain significance168952644089526440Human1name
156370700CV1905311single nucleotide variantNM_003119.4(SPG7):c.495T>G (p.Ile165Met)Hereditary spastic paraplegia 7 [RCV003092401]uncertain significance168952412489524124Human1name
156448451CV1950730single nucleotide variantNM_003119.4(SPG7):c.389G>A (p.Arg130His)Hereditary spastic paraplegia 7 [RCV003120013]|Inborn genetic diseases [RCV004673839]uncertain significance168952401889524018Human2name
156188028CV1961412deletionNM_003119.4(SPG7):c.1170del (p.Arg391fs)Hereditary spastic paraplegia 7 [RCV002574321]pathogenic168953248289532482Human1name
156217683CV1963422single nucleotide variantNM_003119.4(SPG7):c.353G>A (p.Gly118Glu)Hereditary spastic paraplegia 7 [RCV002582708]|Inborn genetic diseases [RCV002575399]uncertain significance168951301489513014Human2name
156244009CV1992681single nucleotide variantNM_003119.4(SPG7):c.931G>A (p.Val311Met)Hereditary spastic paraplegia 7 [RCV002627232]uncertain significance168953075289530752Human1name
155943614CV2062030single nucleotide variantNM_003119.4(SPG7):c.439G>A (p.Val147Ile)Hereditary spastic paraplegia 7 [RCV002815850]uncertain significance168952406889524068Human1name
10406775CV208318duplicationNM_003119.4(SPG7):c.861dup (p.Asn288Ter)Hereditary spastic paraplegia 7 [RCV000194085]|Mitochondrial disease [RCV000508824]|not provided [RCV000199034]pathogenic168952957589529576Human2name
156163093CV2091507single nucleotide variantNM_003119.4(SPG7):c.947A>G (p.Glu316Gly)Hereditary spastic paraplegia 7 [RCV002891077]uncertain significance168953076889530768Human1name
156196295CV2095359single nucleotide variantNM_003119.4(SPG7):c.946G>A (p.Glu316Lys)Hereditary spastic paraplegia 7 [RCV002917628]uncertain significance168953076789530767Human1name
156159535CV2096803duplicationNM_003119.4(SPG7):c.1477dup (p.Leu493fs)Hereditary spastic paraplegia 7 [RCV002872605]pathogenic168954668389546684Human1name
10411455CV211743single nucleotide variantNM_003119.4(SPG7):c.347C>T (p.Ser116Leu)not provided [RCV001722097]likely benign|uncertain significance168951300889513008Humanname
10409825CV211744single nucleotide variantNM_003119.4(SPG7):c.388C>T (p.Arg130Cys)not provided [RCV000512694]uncertain significance168952401789524017Humanname
10410317CV211745single nucleotide variantNM_003119.4(SPG7):c.403G>A (p.Asp135Asn)Hereditary spastic paraplegia 7 [RCV001853199]|not specified [RCV000197933]likely benign|uncertain significance168952403289524032Human1name
10411067CV211746single nucleotide variantNM_003119.4(SPG7):c.412T>A (p.Tyr138Asn)not provided [RCV000199491]uncertain significance168952404189524041Humanname
10409183CV211747single nucleotide variantNM_003119.4(SPG7):c.413A>C (p.Tyr138Ser)Hereditary spastic paraplegia 7 [RCV000640982]|not provided [RCV000195598]uncertain significance168952404289524042Human1name
10410083CV211748single nucleotide variantNM_003119.4(SPG7):c.524T>C (p.Leu175Pro)not provided [RCV000197458]likely pathogenic168952415389524153Humanname
10411334CV211749single nucleotide variantNM_003119.4(SPG7):c.584A>G (p.Tyr195Cys)Hereditary spastic paraplegia 7 [RCV000473038]|not provided [RCV000725649]|not specified [RCV003330570]uncertain significance168952421389524213Human1name
10409271CV211750single nucleotide variantNM_003119.4(SPG7):c.703A>G (p.Ile235Val)Hereditary spastic paraplegia 7 [RCV001853200]|not provided [RCV000195778]uncertain significance168952641389526413Human1name
10410191CV211751single nucleotide variantNM_003119.4(SPG7):c.782C>T (p.Thr261Met)Hereditary spastic paraplegia 7 [RCV001039520]|Inborn genetic diseases [RCV002515438]|SPG7-related disorder [RCV004752791]|not provided [RCV000197675]uncertain significance168952950089529500Human2name , alternate_id
10409709CV211753single nucleotide variantNM_003119.4(SPG7):c.941T>C (p.Met314Thr)not provided [RCV000196674]uncertain significance168953076289530762Humanname
10410616CV211754single nucleotide variantNM_003119.4(SPG7):c.964C>T (p.Arg322Cys)Hereditary spastic paraplegia 7 [RCV002942610]likely pathogenic|uncertain significance168953078589530785Human1name
10409121CV211773deletionNM_003119.4(SPG7):c.2189del (p.Asn730fs)not provided [RCV000195477]pathogenic168955689289556892Humanname
156095123CV2139554single nucleotide variantNM_003119.4(SPG7):c.740G>A (p.Arg247Gln)Hereditary spastic paraplegia 7 [RCV002979762]|not specified [RCV003479458]uncertain significance168952645089526450Human1name
155956641CV2144079single nucleotide variantNM_003119.4(SPG7):c.395A>C (p.Glu132Ala)Hereditary spastic paraplegia 7 [RCV002994932]uncertain significance168952402489524024Human1name
10767698CV222537single nucleotide variantNM_003119.4(SPG7):c.656T>C (p.Ile219Thr)Hereditary spastic paraplegia 7 [RCV000205153]likely benign|conflicting interpretations of pathogenicity|uncertain significance168952636689526366Human1name
155965411CV2261777single nucleotide variantNM_003119.4(SPG7):c.314G>A (p.Arg105Lys)Inborn genetic diseases [RCV002817221]uncertain significance168951297589512975Human1name
156290286CV2299480single nucleotide variantNM_003119.4(SPG7):c.635A>G (p.Tyr212Cys)Inborn genetic diseases [RCV002878824]uncertain significance168952634589526345Human1name
243061391CV2408928single nucleotide variantNM_003119.4(SPG7):c.535G>C (p.Glu179Gln)Hereditary spastic paraplegia 7 [RCV003138645]uncertain significance168952416489524164Human1name
243061394CV2408931single nucleotide variantNM_003119.4(SPG7):c.872A>G (p.Lys291Arg)Hereditary spastic paraplegia 7 [RCV003138648]|Inborn genetic diseases [RCV004963561]|not provided [RCV005402014]uncertain significance168953069389530693Human2name
329351060CV2477890single nucleotide variantNM_003119.4(SPG7):c.544C>T (p.Arg182Cys)Hereditary spastic paraplegia 7 [RCV003507489]|not provided [RCV003224003]uncertain significance168952417389524173Human1name
11560267CV260142deletionNM_003119.4(SPG7):c.1617del (p.Val540fs)Hereditary spastic paraplegia 7 [RCV001855011]|Hereditary spastic paraplegia [RCV001848041]|not provided [RCV000256054]pathogenic168954806689548066Human2name
11578209CV264839single nucleotide variantNM_003119.4(SPG7):c.679C>T (p.Arg227Ter)Hereditary spastic paraplegia 7 [RCV001391423]|Inborn genetic diseases [RCV002519056]|Optic atrophy [RCV004786648]|not provided [RCV000276524]pathogenic168952638989526389Human4name
329952904CV2670242single nucleotide variantNM_003119.4(SPG7):c.997C>T (p.Arg333Cys)not provided [RCV003233452]uncertain significance168953191389531913Humanname
329952094CV2671583single nucleotide variantNM_003119.4(SPG7):c.880C>G (p.Arg294Gly)not provided [RCV003236979]uncertain significance168953070189530701Humanname
11578234CV269605single nucleotide variantNM_003119.4(SPG7):c.637C>T (p.Arg213Ter)Hereditary spastic paraplegia 7 [RCV000276883]|Hereditary spastic paraplegia [RCV001848059]|SPG7-related disorder [RCV003409411]|not provided [RCV000725648]pathogenic|conflicting interpretations of pathogenicity168952634789526347Human2name , alternate_id
401781243CV2726471single nucleotide variantNM_003119.4(SPG7):c.321G>C (p.Lys107Asn)Inborn genetic diseases [RCV003308517]uncertain significance168951298289512982Human1name
401797509CV2742278single nucleotide variantNM_003119.4(SPG7):c.698T>C (p.Leu233Pro)not specified [RCV003324459]uncertain significance168952640889526408Humanname
401797511CV2742279deletionNM_003119.4(SPG7):c.2379del (p.Trp793fs)not specified [RCV003324460]uncertain significance168955708389557083Humanname
401897977CV2769905single nucleotide variantNM_003119.4(SPG7):c.593C>T (p.Pro198Leu)Inborn genetic diseases [RCV003376127]uncertain significance168952422289524222Human1name
401913812CV2814585single nucleotide variantNM_003119.4(SPG7):c.632T>C (p.Met211Thr)not provided [RCV003428005]uncertain significance168952634289526342Humanname
401940479CV2839322single nucleotide variantNM_003119.4(SPG7):c.746G>A (p.Gly249Glu)Hereditary spastic paraplegia 7 [RCV003448880]uncertain significance168952645689526456Human1name
401961026CV2844430single nucleotide variantNM_003119.4(SPG7):c.405C>A (p.Asp135Glu)not provided [RCV003480225]uncertain significance168952403489524034Humanname
402490102CV2857284single nucleotide variantNM_003119.4(SPG7):c.463C>A (p.Leu155Met)Hereditary spastic paraplegia 7 [RCV003507540]uncertain significance168952409289524092Human1name
402497448CV2869463single nucleotide variantNM_003119.4(SPG7):c.950C>T (p.Ala317Val)Hereditary spastic paraplegia 7 [RCV003508366]uncertain significance168953077189530771Human1name
402501472CV2883870single nucleotide variantNM_003119.4(SPG7):c.942G>C (p.Met314Ile)Hereditary spastic paraplegia 7 [RCV003508773]uncertain significance168953076389530763Human1name
402502613CV2895277single nucleotide variantNM_003119.4(SPG7):c.724C>A (p.Pro242Thr)Hereditary spastic paraplegia 7 [RCV003508902]uncertain significance168952643489526434Human1name
402487766CV2921430single nucleotide variantNM_003119.4(SPG7):c.347C>G (p.Ser116Trp)Hereditary spastic paraplegia 7 [RCV003507180]uncertain significance168951300889513008Human1name
405124040CV3009257single nucleotide variantNM_003119.4(SPG7):c.943C>T (p.His315Tyr)Hereditary spastic paraplegia 7 [RCV003617423]uncertain significance168953076489530764Human1name
405136364CV3054706single nucleotide variantNM_003119.4(SPG7):c.598G>A (p.Ala200Thr)Hereditary spastic paraplegia 7 [RCV003618805]uncertain significance168952422789524227Human1name
405137324CV3065032single nucleotide variantNM_003119.4(SPG7):c.620G>A (p.Arg207Gln)Hereditary spastic paraplegia 7 [RCV003618947]uncertain significance168952633089526330Human1name
405213034CV3127539single nucleotide variantNM_003119.4(SPG7):c.970T>C (p.Phe324Leu)Hereditary spastic paraplegia 7 [RCV003823587]uncertain significance168953079189530791Human1name
402468804CV3174600single nucleotide variantNM_003119.4(SPG7):c.826G>A (p.Gly276Arg)Hereditary spastic paraplegia 7 [RCV003873710]uncertain significance168952954489529544Human1name
405735485CV3323117single nucleotide variantNM_003119.4(SPG7):c.633G>A (p.Met211Ile)Inborn genetic diseases [RCV004464889]uncertain significance168952634389526343Human1name
408394814CV3395397single nucleotide variantNM_003119.4(SPG7):c.535G>T (p.Glu179Ter)Hereditary spastic paraplegia 7 [RCV004765029]likely pathogenic168952416489524164Human1name
408394828CV3395407duplicationNM_003119.4(SPG7):c.1075dup (p.Ala359fs)Hereditary spastic paraplegia 7 [RCV004765039]likely pathogenic168953198989531990Human1name
408394772CV3395408single nucleotide variantNM_003119.4(SPG7):c.538G>A (p.Val180Met)Hereditary spastic paraplegia 7 [RCV004765040]uncertain significance168952416789524167Human1name
408394810CV3395446deletionNM_003119.4(SPG7):c.1671del (p.Lys559fs)Hereditary spastic paraplegia 7 [RCV004765078]likely pathogenic168955050089550500Human1name
405871979CV3398170single nucleotide variantNM_003119.4(SPG7):c.421C>T (p.Arg141Trp)not provided [RCV004575171]uncertain significance168952405089524050Humanname
596945328CV3401465single nucleotide variantNM_003119.4(SPG7):c.851T>C (p.Phe284Ser)Hereditary spastic paraplegia 7 [RCV004818485]likely pathogenic168952956989529569Human1name
596945343CV3401474single nucleotide variantNM_003119.4(SPG7):c.958G>T (p.Glu320Ter)Hereditary spastic paraplegia 7 [RCV004818495]pathogenic|likely pathogenic168953077989530779Human1name
596945345CV3401475deletionNM_003119.4(SPG7):c.1676del (p.Lys559fs)Hereditary spastic paraplegia 7 [RCV004818496]likely pathogenic168955050289550502Human1name
596945350CV3401478deletionNM_003119.4(SPG7):c.2164del (p.Leu722fs)Hereditary spastic paraplegia 7 [RCV004818499]likely pathogenic168955454589554545Human1name
596945442CV3401518duplicationNM_003119.4(SPG7):c.2212dup (p.Ile738fs)Hereditary spastic paraplegia 7 [RCV004818539]pathogenic168955691689556917Human1name
11616026CV342919single nucleotide variantNM_003119.4(SPG7):c.308C>A (p.Thr103Asn)Hereditary spastic paraplegia 7 [RCV000291284]uncertain significance168951296989512969Human1name
11625299CV342925single nucleotide variantNM_003119.4(SPG7):c.817C>T (p.Arg273Cys)Hereditary spastic paraplegia 7 [RCV000396981]uncertain significance168952953589529535Human1name
407525628CV3477818single nucleotide variantNM_003119.4(SPG7):c.472C>T (p.Leu158Phe)Inborn genetic diseases [RCV004679355]uncertain significance168952410189524101Human1name
407477264CV3495087single nucleotide variantNM_003119.4(SPG7):c.680G>A (p.Arg227Gln)not specified [RCV004690989]uncertain significance168952639089526390Humanname
408386142CV3496738deletionNM_003119.4(SPG7):c.1719del (p.His574fs)Hereditary spastic paraplegia 7 [RCV004767691]likely pathogenic168955054789550547Human1name
407573850CV3498188single nucleotide variantNM_003119.4(SPG7):c.625G>A (p.Ala209Thr)not specified [RCV004702177]uncertain significance168952633589526335Humanname
407573937CV3498286single nucleotide variantNM_003119.4(SPG7):c.776G>A (p.Gly259Glu)not specified [RCV004702760]uncertain significance168952949489529494Humanname
407574114CV3498463single nucleotide variantNM_003119.4(SPG7):c.446C>T (p.Ala149Val)not specified [RCV004702938]uncertain significance168952407589524075Humanname
408369143CV3502748single nucleotide variantNM_003119.4(SPG7):c.859T>C (p.Phe287Leu)not provided [RCV004723869]uncertain significance168952957789529577Humanname
408389422CV3524574single nucleotide variantNM_003119.4(SPG7):c.663G>C (p.Lys221Asn)Hereditary spastic paraplegia 7 [RCV005104954]|not provided [RCV004769469]uncertain significance168952637389526373Human1name
596932987CV3539615single nucleotide variantNM_003119.4(SPG7):c.616C>G (p.Pro206Ala)not provided [RCV004794240]uncertain significance168952424589524245Humanname
596932989CV3539617single nucleotide variantNM_003119.4(SPG7):c.965G>A (p.Arg322His)not provided [RCV004794242]uncertain significance168953078689530786Humanname
597731637CV3607476single nucleotide variantNM_003119.4(SPG7):c.551A>G (p.Gln184Arg)Inborn genetic diseases [RCV004964098]uncertain significance168952418089524180Human1name
12849384CV363853single nucleotide variantNM_003119.4(SPG7):c.445G>A (p.Ala149Thr)not provided [RCV000429046]uncertain significance168952407489524074Humanname
597758884CV3711979deletionNM_003119.4(SPG7):c.2196del (p.Leu733fs)Hereditary spastic paraplegia 7 [RCV005017900]likely pathogenic168955690089556900Human1name
597860392CV3748669single nucleotide variantNM_003119.4(SPG7):c.914G>C (p.Gly305Ala)Hereditary spastic paraplegia 7 [RCV005067301]uncertain significance168953073589530735Human1name
597965092CV3751086single nucleotide variantNM_003119.4(SPG7):c.425T>C (p.Leu142Pro)Hereditary spastic paraplegia 7 [RCV005082648]uncertain significance168952405489524054Human1name
597900644CV3796388single nucleotide variantNM_003119.4(SPG7):c.505G>A (p.Asp169Asn)Hereditary spastic paraplegia 7 [RCV005152471]uncertain significance168952413489524134Human1name
597970787CV3832595single nucleotide variantNM_003119.4(SPG7):c.403G>T (p.Asp135Tyr)Hereditary spastic paraplegia 7 [RCV005166674]uncertain significance168952403289524032Human1name
597890912CV3839818single nucleotide variantNM_003119.4(SPG7):c.683C>G (p.Ala228Gly)Hereditary spastic paraplegia 7 [RCV005179710]uncertain significance168952639389526393Human1name
597963091CV3841373single nucleotide variantNM_003119.4(SPG7):c.694G>C (p.Glu232Gln)Hereditary spastic paraplegia 7 [RCV005193476]uncertain significance168952640489526404Human1name
597925008CV3863397deletionNM_003119.4(SPG7):c.2326del (p.Glu776fs)not provided [RCV005205722]uncertain significance168955703089557030Humanname
12897362CV401365duplicationNM_003119.4(SPG7):c.1053dup (p.Gly352fs)Hereditary spastic paraplegia 7 [RCV000461092]|Hereditary spastic paraplegia [RCV000824802]|SPG7-related disorder [RCV003401491]|not provided [RCV000627428]pathogenic168953196289531963Human2name , alternate_id
12897289CV401370duplicationNM_003119.4(SPG7):c.2096dup (p.Met699fs)Hereditary spastic paraplegia 7 [RCV000460135]|SPG7-related disorder [RCV003902651]|not provided [RCV000489898]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity168955395289553953Human1name , alternate_id
12897375CV401888single nucleotide variantNM_003119.4(SPG7):c.932T>A (p.Val311Glu)Hereditary spastic paraplegia 7 [RCV000461245]likely pathogenic|uncertain significance168953075389530753Human1name
13469818CV411589single nucleotide variantNM_003119.4(SPG7):c.376G>C (p.Glu126Gln)Hereditary spastic paraplegia 7 [RCV003507282]|Hereditary spastic paraplegia [RCV000515979]|not provided [RCV000518245]pathogenic|likely pathogenic168951303789513037Human2name
12913768CV422129single nucleotide variantNM_003119.4(SPG7):c.865C>T (p.Gln289Ter)not provided [RCV000494238]likely pathogenic168953068689530686Humanname
13480713CV441935single nucleotide variantNM_003119.4(SPG7):c.331A>G (p.Lys111Glu)Hereditary spastic paraplegia 7 [RCV002527532]|Inborn genetic diseases [RCV003278862]|not specified [RCV000517366]uncertain significance168951299289512992Human2name
13472270CV445679single nucleotide variantNM_003119.4(SPG7):c.806G>A (p.Trp269Ter)not provided [RCV000519087]likely pathogenic168952952489529524Humanname
13470806CV466843single nucleotide variantNM_003119.4(SPG7):c.983T>C (p.Leu328Pro)Hereditary spastic paraplegia 7 [RCV000546430]uncertain significance168953080489530804Human1name
13532304CV512250single nucleotide variantNM_003119.4(SPG7):c.347C>A (p.Ser116Ter)Inborn genetic diseases [RCV000624073]pathogenic168951300889513008Human1name
13592711CV513462deletionNM_003119.4(SPG7):c.2271del (p.Met757fs)Hereditary spastic paraplegia 7 [RCV000625997]pathogenic|likely pathogenic168955697689556976Human1name
13611664CV514706deletionNM_003119.4(SPG7):c.2070del (p.Phe691fs)Hereditary spastic paraplegia 7 [RCV001380103]|not provided [RCV000627617]pathogenic|likely pathogenic168955392489553924Human1name
13609966CV530390single nucleotide variantNM_003119.4(SPG7):c.568G>A (p.Asp190Asn)Hereditary spastic paraplegia 7 [RCV000640977]uncertain significance168952419789524197Human1name
13817623CV570615single nucleotide variantNM_003119.4(SPG7):c.898G>A (p.Gly300Arg)Hereditary spastic paraplegia 7 [RCV000707135]|not provided [RCV001577546]uncertain significance168953071989530719Human1name
13821343CV574210single nucleotide variantNM_003119.4(SPG7):c.338A>G (p.Lys113Arg)Hereditary spastic paraplegia 7 [RCV000695759]|Inborn genetic diseases [RCV004025252]likely benign|uncertain significance168951299989512999Human2name
14693117CV620566deletionNM_003119.4(SPG7):c.1102del (p.Val368fs)Hereditary spastic paraplegia 7 [RCV000778483]uncertain significance168953201789532017Humanname
21075488CV797457single nucleotide variantNM_003119.4(SPG7):c.373G>A (p.Glu125Lys)Hereditary spastic paraplegia 7 [RCV001858835]|not provided [RCV000996402]uncertain significance168951303489513034Human1name
21075490CV797459single nucleotide variantNM_003119.4(SPG7):c.818G>A (p.Arg273His)Hereditary spastic paraplegia 7 [RCV005056731]|Spastic ataxia [RCV001644887]|not provided [RCV000996404]likely benign|uncertain significance168952953689529536Human3name
28878027CV860325single nucleotide variantNM_003119.4(SPG7):c.638G>A (p.Arg213Gln)Hereditary spastic paraplegia 7 [RCV001228310]|Hereditary spastic paraplegia [RCV001847152]|Inborn genetic diseases [RCV004031224]|not provided [RCV001090550]likely benign|uncertain significance168952634889526348Human3name
28881082CV860326duplicationNM_003119.4(SPG7):c.2216dup (p.Asn739fs)Hereditary spastic paraplegia 7 [RCV001760064]|not provided [RCV001091058]pathogenic168955691889556919Human1name
28893056CV876180single nucleotide variantNM_003119.4(SPG7):c.517G>A (p.Glu173Lys)Hereditary spastic paraplegia 7 [RCV001121553]uncertain significance168952414689524146Human1name
28893059CV876181single nucleotide variantNM_003119.4(SPG7):c.566G>A (p.Ser189Asn)Hereditary spastic paraplegia 7 [RCV001121554]|not provided [RCV001759888]uncertain significance168952419589524195Human1name
28877736CV876182single nucleotide variantNM_003119.4(SPG7):c.734A>G (p.Tyr245Cys)Hereditary spastic paraplegia 7 [RCV001116670]uncertain significance168952644489526444Human1name
38487262CV928010single nucleotide variantNM_003119.4(SPG7):c.739C>T (p.Arg247Ter)Hereditary spastic paraplegia 7 [RCV001220525]|not provided [RCV001819912]pathogenic168952644989526449Human1name
38488869CV949639single nucleotide variantNM_003119.4(SPG7):c.578A>G (p.Glu193Gly)Hereditary spastic paraplegia 7 [RCV001238182]|Inborn genetic diseases [RCV004034571]uncertain significance168952420789524207Human2name
127234040CV977137deletionNM_003119.4(SPG7):c.39_63del (p.Gly14fs)Hereditary spastic paraplegia 7 [RCV001391421]pathogenic168950845289508476Human1name
127234045CV977138single nucleotide variantNM_003119.4(SPG7):c.712A>T (p.Lys238Ter)Hereditary spastic paraplegia 7 [RCV001391424]pathogenic168952642289526422Human1name
150447328CV1015244single nucleotide variantNM_003119.4(SPG7):c.1972G>A (p.Ala658Thr)Hereditary spastic paraplegia 7 [RCV001647144]likely pathogenic|conflicting interpretations of pathogenicity168955382989553829Human1name
150449819CV1202492single nucleotide variantNM_003119.4(SPG7):c.1054G>A (p.Gly352Ser)Hereditary spastic paraplegia 7 [RCV003771770]|Hereditary spastic paraplegia [RCV001847308]|not provided [RCV001585089]conflicting interpretations of pathogenicity|uncertain significance168953197089531970Human2name
150514350CV1211963microsatelliteNM_003119.4(SPG7):c.1324+3816GGTGAGGCG[2]not provided [RCV001599032]benign168953645289536460Humanname
150551078CV1292475single nucleotide variantNM_003119.4(SPG7):c.1940C>T (p.Ala647Val)Hereditary spastic paraplegia 7 [RCV005094921]|Hereditary spastic paraplegia [RCV001847324]|not provided [RCV001754082]likely pathogenic|uncertain significance168955379789553797Human2name
150530115CV1293349single nucleotide variantNM_003119.4(SPG7):c.1193G>A (p.Arg398Gln)Hereditary spastic paraplegia 7 [RCV002538743]|not provided [RCV001756569]uncertain significance168953250589532505Human1name
150533595CV1294272single nucleotide variantNM_003119.4(SPG7):c.2191G>A (p.Ala731Thr)Hereditary spastic paraplegia 7 [RCV001810307]|not provided [RCV001758290]uncertain significance168955689689556896Human1name
150548812CV1294527single nucleotide variantNM_003119.4(SPG7):c.2314G>T (p.Asp772Tyr)not provided [RCV001752019]uncertain significance168955701989557019Humanname
150553230CV1298267single nucleotide variantNM_003119.4(SPG7):c.2293G>A (p.Asp765Asn)Hereditary spastic paraplegia 7 [RCV003617936]|not provided [RCV001768881]uncertain significance168955699889556998Human1name
150531335CV1299388single nucleotide variantNM_003119.4(SPG7):c.1573T>C (p.Cys525Arg)SPG7-related disorder [RCV004731171]|not provided [RCV001757081]uncertain significance168954802389548023Human1name , alternate_id
150541653CV1301551single nucleotide variantNM_003119.4(SPG7):c.1235C>T (p.Ala412Val)Hereditary spastic paraplegia 7 [RCV002489782]|Retinal dystrophy [RCV004815621]|not provided [RCV001761017]|not specified [RCV003479347]uncertain significance168953254789532547Human3name
150528118CV1301644single nucleotide variantNM_003119.4(SPG7):c.2047C>T (p.Leu683Phe)Hereditary spastic paraplegia 7 [RCV005095020]|not provided [RCV001755016]uncertain significance168955390489553904Human1name
150533824CV1302107single nucleotide variantNM_003119.4(SPG7):c.1613C>G (p.Thr538Ser)not provided [RCV001758381]uncertain significance168954806389548063Humanname
150546820CV1302872single nucleotide variantNM_003119.4(SPG7):c.2148G>C (p.Lys716Asn)Hereditary spastic paraplegia 7 [RCV001868560]|Inborn genetic diseases [RCV003289082]|not provided [RCV001763617]uncertain significance168955453089554530Human2name
151355812CV1326996single nucleotide variantNM_003119.4(SPG7):c.1075G>C (p.Ala359Pro)Hereditary spastic paraplegia 7 [RCV004764972]|not provided [RCV001822165]pathogenic|likely pathogenic168953199189531991Human1name
151662530CV1330415single nucleotide variantNM_003119.4(SPG7):c.1853C>G (p.Thr618Ser)Spastic tetraparesis [RCV001823952]uncertain significance168955305289553052Human2name
151662006CV1332839single nucleotide variantNM_003119.4(SPG7):c.1976A>G (p.Tyr659Cys)Hereditary spastic paraplegia 7 [RCV005095297]|Inborn genetic diseases [RCV004968313]|not provided [RCV001837086]uncertain significance168955383389553833Human2name
151753710CV1335827single nucleotide variantNM_003119.4(SPG7):c.1046G>T (p.Gly349Val)Hereditary spastic paraplegia [RCV001848227]uncertain significance168953196289531962Human1name
151753719CV1335828single nucleotide variantNM_003119.4(SPG7):c.1207T>A (p.Cys403Ser)Hereditary spastic paraplegia [RCV001848228]uncertain significance168953251989532519Human1name
151753743CV1335831single nucleotide variantNM_003119.4(SPG7):c.1442C>G (p.Thr481Arg)Hereditary spastic paraplegia [RCV001848231]uncertain significance168954476589544765Human1name
151753757CV1335834single nucleotide variantNM_003119.4(SPG7):c.1897C>T (p.Arg633Trp)Hereditary spastic paraplegia 7 [RCV002543379]|Hereditary spastic paraplegia [RCV001848234]uncertain significance168955309689553096Human2name
151753763CV1335835single nucleotide variantNM_003119.4(SPG7):c.1948G>T (p.Asp650Tyr)Hereditary spastic paraplegia [RCV001848235]likely pathogenic168955380589553805Human1name
151753769CV1335836single nucleotide variantNM_003119.4(SPG7):c.1955G>T (p.Arg652Met)Hereditary spastic paraplegia [RCV001848236]uncertain significance168955381289553812Human1name
151753786CV1335838single nucleotide variantNM_003119.4(SPG7):c.2261C>T (p.Pro754Leu)Hereditary spastic paraplegia 7 [RCV005095321]|Hereditary spastic paraplegia [RCV001848238]uncertain significance168955696689556966Human2name
151871011CV1340439single nucleotide variantNM_003119.4(SPG7):c.1740G>T (p.Leu580Phe)Hereditary spastic paraplegia 7 [RCV001939799]uncertain significance168955057089550570Human1name
151810884CV1345208single nucleotide variantNM_003119.4(SPG7):c.2102A>G (p.His701Arg)Hereditary spastic paraplegia 7 [RCV001878258]uncertain significance168955395989553959Human1name
151840409CV1345877single nucleotide variantNM_003119.4(SPG7):c.1712T>C (p.Val571Ala)Hereditary spastic paraplegia 7 [RCV001902769]uncertain significance168955054289550542Human1name
151810969CV1350344single nucleotide variantNM_003119.4(SPG7):c.1061G>C (p.Gly354Ala)Hereditary spastic paraplegia 7 [RCV002048850]likely pathogenic168953197789531977Human1name
8660739CV135816single nucleotide variantNM_003119.4(SPG7):c.1507A>G (p.Thr503Ala)Hereditary spastic paraplegia 7 [RCV000576853]|Hereditary spastic paraplegia [RCV001847729]|not provided [RCV001705868]|not specified [RCV000118409]benign|likely benign|conflicting interpretations of pathogenicity168954671589546715Human6name
8660739CV135816single nucleotide variantNM_003119.4(SPG7):c.1507A>G (p.Thr503Ala)Hereditary spastic paraplegia 7 [RCV000576853]|Hereditary spastic paraplegia [RCV001847729]|not provided [RCV001705868]|not specified [RCV000118409]benign|likely benign|conflicting interpretations of pathogenicity168954671589546716Human6name
8660740CV135817single nucleotide variantNM_003119.4(SPG7):c.2063G>A (p.Arg688Gln)Hereditary spastic paraplegia 7 [RCV000576393]|Hereditary spastic paraplegia [RCV001847730]|not provided [RCV001705869]|not specified [RCV000118410]benign|likely benign|conflicting interpretations of pathogenicity168955392089553920Human2name
151738209CV1358537single nucleotide variantNM_003119.4(SPG7):c.1752G>C (p.Met584Ile)Hereditary spastic paraplegia 7 [RCV001967871]|Inborn genetic diseases [RCV002562240]uncertain significance168955058289550582Human2name
151717438CV1368396single nucleotide variantNM_003119.4(SPG7):c.1234G>A (p.Ala412Thr)Hereditary spastic paraplegia 7 [RCV001965434]uncertain significance168953254689532546Human1name
151843691CV1381225single nucleotide variantNM_003119.4(SPG7):c.1844A>G (p.His615Arg)Hereditary spastic paraplegia 7 [RCV001881668]uncertain significance168955304389553043Human1name
151821568CV1385146single nucleotide variantNM_003119.4(SPG7):c.2290A>G (p.Ile764Val)Hereditary spastic paraplegia 7 [RCV001975782]|Inborn genetic diseases [RCV004671579]likely benign|uncertain significance168955699589556995Human2name
151887794CV1409130single nucleotide variantNM_003119.4(SPG7):c.2323G>A (p.Glu775Lys)Hereditary spastic paraplegia 7 [RCV001942462]uncertain significance168955702889557028Human1name
151769968CV1410726single nucleotide variantNM_003119.4(SPG7):c.1073T>C (p.Leu358Pro)Hereditary spastic paraplegia 7 [RCV001971082]uncertain significance168953198989531989Human1name
151731148CV1421280single nucleotide variantNM_003119.4(SPG7):c.2062C>T (p.Arg688Trp)Hereditary spastic paraplegia 7 [RCV001892263]|Inborn genetic diseases [RCV002552317]|not provided [RCV004728890]pathogenic|likely pathogenic|uncertain significance168955391989553919Human2name
8692979CV142944single nucleotide variantNM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)Hereditary spastic paraplegia 7 [RCV000989665]|Hereditary spastic paraplegia [RCV001847762]|not provided [RCV000585517]|not specified [RCV000128202]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance168954666589546665Human2name
151743265CV1431086single nucleotide variantNM_003119.4(SPG7):c.2021T>C (p.Ile674Thr)Hereditary spastic paraplegia 7 [RCV001893485]uncertain significance168955387889553878Human1name
151886330CV1441462single nucleotide variantNM_003119.4(SPG7):c.1702C>T (p.Gln568Ter)Hereditary spastic paraplegia 7 [RCV001942142]pathogenic|likely pathogenic168955053289550532Human1name
151749125CV1465212single nucleotide variantNM_003119.4(SPG7):c.2365G>T (p.Glu789Ter)Hereditary spastic paraplegia 7 [RCV002043093]|not specified [RCV003388081]uncertain significance168955707089557070Human1name
151854823CV1466103single nucleotide variantNM_003119.4(SPG7):c.1378A>G (p.Ile460Val)Hereditary spastic paraplegia 7 [RCV001883202]uncertain significance168954470189544701Human1name
151778720CV1472261single nucleotide variantNM_003119.4(SPG7):c.1085T>A (p.Val362Glu)Hereditary spastic paraplegia 7 [RCV002026055]uncertain significance168953200189532001Human1name
151771571CV1477641single nucleotide variantNM_003119.4(SPG7):c.1201G>A (p.Ala401Thr)Hereditary spastic paraplegia 7 [RCV001950204]uncertain significance168953251389532513Human1name
151877281CV1480866single nucleotide variantNM_003119.4(SPG7):c.1927G>A (p.Val643Ile)Hereditary spastic paraplegia 7 [RCV001982061]uncertain significance168955312689553126Human1name
151853971CV1483328single nucleotide variantNM_003119.4(SPG7):c.1033G>A (p.Ala345Thr)Hereditary spastic paraplegia 7 [RCV001937716]|Inborn genetic diseases [RCV003264239]uncertain significance168953194989531949Human2name
151838843CV1492790single nucleotide variantNM_003119.4(SPG7):c.1199G>A (p.Arg400Gln)Hereditary spastic paraplegia 7 [RCV001881098]uncertain significance168953251189532511Human1name
151862819CV1498360single nucleotide variantNM_003119.4(SPG7):c.1796G>T (p.Arg599Leu)Hereditary spastic paraplegia 7 [RCV001980346]uncertain significance168955299589552995Human1name
151846715CV1501836single nucleotide variantNM_003119.4(SPG7):c.1422C>G (p.His474Gln)Hereditary spastic paraplegia 7 [RCV002016013]uncertain significance168954474589544745Human1name
151889086CV1504664single nucleotide variantNM_003119.4(SPG7):c.1363A>C (p.Thr455Pro)Hereditary spastic paraplegia 7 [RCV001963355]uncertain significance168954468689544686Human1name
151825732CV1507176single nucleotide variantNM_003119.4(SPG7):c.1256C>T (p.Thr419Ile)Hereditary spastic paraplegia 7 [RCV001955194]uncertain significance168953256889532568Human1name
151727903CV1517446single nucleotide variantNM_003119.4(SPG7):c.1861C>T (p.Gln621Ter)Hereditary spastic paraplegia 7 [RCV002052061]|Spastic ataxia [RCV003329432]|not provided [RCV004729059]pathogenic|likely pathogenic168955306089553060Human3name
156192831CV1667034single nucleotide variantNM_003119.4(SPG7):c.2279C>T (p.Pro760Leu)Hereditary spastic paraplegia 7 [RCV002917506]uncertain significance168955698489556984Human1name
153303013CV1686123single nucleotide variantNM_003119.4(SPG7):c.1135G>A (p.Val379Met)Hereditary spastic paraplegia 7 [RCV003095876]|Inborn genetic diseases [RCV004965836]|not provided [RCV002261556]uncertain significance168953205189532051Human2name
153345607CV1691186single nucleotide variantNM_003119.4(SPG7):c.2241T>G (p.Ile747Met)Hereditary spastic paraplegia 7 [RCV002272667]uncertain significance168955694689556946Human1name
153348375CV1692306single nucleotide variantNM_003119.4(SPG7):c.2161A>G (p.Asn721Asp)Hereditary spastic paraplegia 7 [RCV002273858]likely pathogenic|conflicting interpretations of pathogenicity168955454389554543Human1name
153348647CV1692691single nucleotide variantNM_003119.4(SPG7):c.1987A>T (p.Lys663Ter)not provided [RCV002274546]likely pathogenic168955384489553844Humanname
153349619CV1693693single nucleotide variantNM_003119.4(SPG7):c.1781T>C (p.Val594Ala)not provided [RCV002276035]uncertain significance168955298089552980Humanname
155268238CV1701675single nucleotide variantNM_003119.4(SPG7):c.2102A>C (p.His701Pro)Hereditary spastic paraplegia 7 [RCV002283905]|not provided [RCV004999686]pathogenic|likely pathogenic168955395989553959Human1name
155265015CV1704563single nucleotide variantNM_003119.4(SPG7):c.1013G>A (p.Gly338Asp)Hereditary spastic paraplegia 7 [RCV003097678]|not provided [RCV002284779]uncertain significance168953192989531929Human1name
155643147CV1707699single nucleotide variantNM_003119.4(SPG7):c.2350C>T (p.Pro784Ser)Hereditary spastic paraplegia 7 [RCV002289160]uncertain significance168955705589557055Human1name
155645094CV1710574single nucleotide variantNM_003119.4(SPG7):c.1502C>T (p.Ser501Phe)not provided [RCV002293870]uncertain significance168954671089546710Humanname
155716596CV1780510single nucleotide variantNM_003119.4(SPG7):c.1261A>G (p.Met421Val)not provided [RCV002306115]uncertain significance168953257389532573Humanname
155800855CV1863850single nucleotide variantNM_003119.4(SPG7):c.1004T>G (p.Leu335Arg)not provided [RCV002474273]uncertain significance168953192089531920Humanname
155800858CV1863853single nucleotide variantNM_003119.4(SPG7):c.1315G>A (p.Glu439Lys)not provided [RCV002474276]uncertain significance168953262789532627Humanname
155800859CV1863854single nucleotide variantNM_003119.4(SPG7):c.2246C>T (p.Pro749Leu)Hereditary spastic paraplegia 7 [RCV005008599]|not provided [RCV002474277]|not specified [RCV003491120]likely pathogenic|uncertain significance168955695189556951Human1name
156291811CV1887072single nucleotide variantNM_003119.4(SPG7):c.2059G>A (p.Gly687Arg)Hereditary spastic paraplegia 7 [RCV003087516]uncertain significance168955391689553916Human1name
156410281CV1888439single nucleotide variantNM_003119.4(SPG7):c.1858G>C (p.Glu620Gln)Hereditary spastic paraplegia 7 [RCV003072006]uncertain significance168955305789553057Human1name
156066672CV1888837single nucleotide variantNM_003119.4(SPG7):c.2387A>G (p.Ter796Trp)Hereditary spastic paraplegia 7 [RCV003079401]uncertain significance168955709289557092Human1name
156033443CV1889968single nucleotide variantNM_003119.4(SPG7):c.1873C>T (p.Arg625Trp)Hereditary spastic paraplegia 7 [RCV003078210]uncertain significance168955307289553072Human1name
156295060CV1892339single nucleotide variantNM_003119.4(SPG7):c.2372C>G (p.Pro791Arg)Hereditary spastic paraplegia 7 [RCV003061623]uncertain significance168955707789557077Human1name
156308404CV1895091single nucleotide variantNM_003119.4(SPG7):c.1123G>A (p.Gly375Ser)Hereditary spastic paraplegia 7 [RCV003088298]uncertain significance168953203989532039Human1name
156149114CV1899607single nucleotide variantNM_003119.4(SPG7):c.1085T>G (p.Val362Gly)Hereditary spastic paraplegia 7 [RCV003082487]uncertain significance168953200189532001Human1name
156344180CV1907589single nucleotide variantNM_003119.4(SPG7):c.2296G>A (p.Ala766Thr)Hereditary spastic paraplegia 7 [RCV003090539]uncertain significance168955700189557001Human1name
156414220CV1915837single nucleotide variantNM_003119.4(SPG7):c.1460A>C (p.Glu487Ala)Hereditary spastic paraplegia 7 [RCV002588480]uncertain significance168954666889546668Human1name
156371441CV1920311single nucleotide variantNM_003119.4(SPG7):c.2143G>C (p.Glu715Gln)Hereditary spastic paraplegia 7 [RCV002603207]uncertain significance168955452589554525Human1name
156098670CV1920587single nucleotide variantNM_003119.4(SPG7):c.2281C>T (p.Gln761Ter)Hereditary spastic paraplegia 7 [RCV002592190]uncertain significance168955698689556986Human1name
156285532CV1929710single nucleotide variantNM_003119.4(SPG7):c.1705A>C (p.Lys569Gln)Hereditary spastic paraplegia 7 [RCV002628598]uncertain significance168955053589550535Human1name
156167889CV1930061single nucleotide variantNM_003119.4(SPG7):c.2316C>G (p.Asp772Glu)Hereditary spastic paraplegia 7 [RCV002624612]uncertain significance168955702189557021Human1name
156053031CV1934989single nucleotide variantNM_003119.4(SPG7):c.2052G>C (p.Met684Ile)not specified [RCV002510275]uncertain significance168955390989553909Humanname
156438826CV1943380single nucleotide variantNM_003119.4(SPG7):c.1358C>T (p.Ala453Val)Hereditary spastic paraplegia 7 [RCV003108774]uncertain significance168954468189544681Human1name
156230970CV1955996single nucleotide variantNM_003119.4(SPG7):c.2252C>A (p.Pro751His)Hereditary spastic paraplegia 7 [RCV002575870]uncertain significance168955695789556957Human1name
156217975CV1963442single nucleotide variantNM_003119.4(SPG7):c.2240T>C (p.Ile747Thr)Hereditary spastic paraplegia 7 [RCV002575412]uncertain significance168955694589556945Human1name
156392112CV1964986single nucleotide variantNM_003119.4(SPG7):c.1686C>G (p.Ile562Met)Hereditary spastic paraplegia 7 [RCV002583969]uncertain significance168955051689550516Human1name
156308248CV1976712single nucleotide variantNM_003119.4(SPG7):c.1421A>C (p.His474Pro)Hereditary spastic paraplegia 7 [RCV002578551]uncertain significance168954474489544744Human1name
156384132CV1979775single nucleotide variantNM_003119.4(SPG7):c.1361C>T (p.Ser454Phe)Hereditary spastic paraplegia 7 [RCV002634496]uncertain significance168954468489544684Human1name
156245231CV1992735single nucleotide variantNM_003119.4(SPG7):c.1699G>C (p.Glu567Gln)Hereditary spastic paraplegia 7 [RCV002627270]uncertain significance168955052989550529Human1name
156120458CV2039461single nucleotide variantNM_003119.4(SPG7):c.1012G>T (p.Gly338Cys)Hereditary spastic paraplegia 7 [RCV002800204]|Inborn genetic diseases [RCV004064687]uncertain significance168953192889531928Human2name
155966298CV2048938single nucleotide variantNM_003119.4(SPG7):c.1969A>G (p.Ile657Val)Hereditary spastic paraplegia 7 [RCV002776507]|not provided [RCV005370302]uncertain significance168955382689553826Human1name
156172849CV2051684single nucleotide variantNM_003119.4(SPG7):c.1652G>C (p.Arg551Pro)Hereditary spastic paraplegia 7 [RCV002828043]uncertain significance168954810289548102Human1name
156329139CV2065055single nucleotide variantNM_003119.4(SPG7):c.1898G>A (p.Arg633Gln)Hereditary spastic paraplegia 7 [RCV002835192]uncertain significance168955309789553097Human1name
156031385CV2126553single nucleotide variantNM_003119.4(SPG7):c.1456C>T (p.Arg486Trp)Hereditary spastic paraplegia 7 [RCV002949242]uncertain significance168954666489546664Human1name
155906463CV2130804single nucleotide variantNM_003119.4(SPG7):c.1387G>A (p.Gly463Ser)Hereditary spastic paraplegia 7 [RCV002967741]uncertain significance168954471089544710Human1name
155980764CV2140404single nucleotide variantNM_003119.4(SPG7):c.1642G>A (p.Ala548Thr)Hereditary spastic paraplegia 7 [RCV002996086]uncertain significance168954809289548092Human1name
155989899CV2151200single nucleotide variantNM_003119.4(SPG7):c.1622A>G (p.His541Arg)Hereditary spastic paraplegia 7 [RCV003016777]uncertain significance168954807289548072Human1name
156359911CV2162408single nucleotide variantNM_003119.4(SPG7):c.2149G>A (p.Val717Met)Hereditary spastic paraplegia 7 [RCV003031490]uncertain significance168955453189554531Human1name
156304079CV2166786single nucleotide variantNM_003119.4(SPG7):c.1563C>G (p.Ile521Met)Hereditary spastic paraplegia 7 [RCV003045693]|Inborn genetic diseases [RCV003045692]uncertain significance168954801389548013Human2name
156135746CV2181521single nucleotide variantNM_003119.4(SPG7):c.1991A>C (p.Gln664Pro)Hereditary spastic paraplegia 7 [RCV003039858]uncertain significance168955384889553848Human1name
8597267CV21854single nucleotide variantNM_003119.4(SPG7):c.2075G>C (p.Ser692Thr)Hereditary spastic paraplegia 7 [RCV000007217]pathogenic|likely pathogenic168955393289553932Human1name
8597269CV21858single nucleotide variantNM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)Hereditary spastic paraplegia 7 [RCV000007221]|Hereditary spastic paraplegia [RCV001847595]|Inborn genetic diseases [RCV002512867]|Retinal dystrophy [RCV004814853]|SPG7-related disorder [RCV004752690]|not provided [RCV000198037]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance168953196189531961Human5name , alternate_id
8597270CV21859single nucleotide variantNM_003119.4(SPG7):c.1749G>C (p.Trp583Cys)Hereditary spastic paraplegia 7 [RCV000007222]|not provided [RCV000996411]pathogenic|likely pathogenic168955057989550579Human1name
156367353CV2203505single nucleotide variantNM_003119.4(SPG7):c.2365G>C (p.Glu789Gln)Hereditary spastic paraplegia 7 [RCV003507467]|Inborn genetic diseases [RCV002652240]uncertain significance168955707089557070Human2name
156084594CV2249273single nucleotide variantNM_003119.4(SPG7):c.2114T>G (p.Leu705Arg)Inborn genetic diseases [RCV002798144]uncertain significance168955449689554496Human1name
156190837CV2255190single nucleotide variantNM_003119.4(SPG7):c.1741G>A (p.Val581Met)Inborn genetic diseases [RCV002802834]uncertain significance168955057189550571Human1name
156198653CV2293709single nucleotide variantNM_003119.4(SPG7):c.1598C>T (p.Ala533Val)Inborn genetic diseases [RCV002874686]|not provided [RCV004790430]|not specified [RCV003404170]uncertain significance168954804889548048Human1name
243061390CV2408927single nucleotide variantNM_003119.4(SPG7):c.2218T>G (p.Tyr740Asp)Hereditary spastic paraplegia 7 [RCV003138644]uncertain significance168955692389556923Human1name
243061393CV2408930single nucleotide variantNM_003119.4(SPG7):c.1301A>G (p.Asn434Ser)Hereditary spastic paraplegia 7 [RCV003138647]uncertain significance168953261389532613Human1name
329391884CV2453210single nucleotide variantNM_003119.4(SPG7):c.2317T>G (p.Leu773Val)Inborn genetic diseases [RCV003217487]uncertain significance168955702289557022Human1name
329399560CV2470154single nucleotide variantNM_003119.4(SPG7):c.1166G>A (p.Arg389His)Inborn genetic diseases [RCV003220982]uncertain significance168953247889532478Human1name
401918622CV2523106single nucleotide variantNM_003119.4(SPG7):c.2195T>C (p.Leu732Pro)Hereditary spastic paraplegia 7 [RCV003388209]pathogenic168955690089556900Human1name
401918473CV2523109single nucleotide variantNM_003119.4(SPG7):c.2001G>A (p.Met667Ile)Hereditary spastic paraplegia 7 [RCV003388212]likely pathogenic168955385889553858Human1name
329848249CV2667868single nucleotide variantNM_003119.4(SPG7):c.1364C>T (p.Thr455Met)not provided [RCV003229435]uncertain significance168954468789544687Humanname
329848296CV2667915single nucleotide variantNM_003119.4(SPG7):c.2050A>T (p.Met684Leu)not provided [RCV003229483]uncertain significance168955390789553907Humanname
329955298CV2671242single nucleotide variantNM_003119.4(SPG7):c.1636G>A (p.Glu546Lys)not specified [RCV003236518]uncertain significance168954808689548086Humanname
401734328CV2688473single nucleotide variantNM_003119.4(SPG7):c.2157G>C (p.Gln719His)Inborn genetic diseases [RCV003290740]uncertain significance168955453989554539Human1name
401773584CV2709393single nucleotide variantNM_003119.4(SPG7):c.1294A>G (p.Thr432Ala)Inborn genetic diseases [RCV003262251]uncertain significance168953260689532606Human1name
401720854CV2737333single nucleotide variantNM_003119.4(SPG7):c.1303C>T (p.Gln435Ter)Hereditary spastic paraplegia 7 [RCV003314272]pathogenic168953261589532615Human1name
401796710CV2739690single nucleotide variantNM_003119.4(SPG7):c.1166G>T (p.Arg389Leu)not provided [RCV003319651]uncertain significance168953247889532478Humanname
401798427CV2741519single nucleotide variantNM_003119.4(SPG7):c.1249C>T (p.Arg417Cys)Hereditary spastic paraplegia 7 [RCV003322738]uncertain significance168953256189532561Human1name
401855432CV2752920single nucleotide variantNM_003119.4(SPG7):c.2099A>G (p.Asp700Gly)Hereditary spastic paraplegia 7 [RCV003337974]uncertain significance168955395689553956Human1name
401885668CV2783251single nucleotide variantNM_003119.4(SPG7):c.2221G>C (p.Glu741Gln)Inborn genetic diseases [RCV003386753]uncertain significance168955692689556926Human1name
401902716CV2799554single nucleotide variantNM_003119.4(SPG7):c.1189G>C (p.Ala397Pro)SPG7-related disorder [RCV003419025]uncertain significance168953250189532501Humanname , trait , alternate_id
401913026CV2801551single nucleotide variantNM_003119.4(SPG7):c.1828C>T (p.Leu610Phe)SPG7-related disorder [RCV003400043]uncertain significance168955302789553027Humanname , trait , alternate_id
401925118CV2805253single nucleotide variantNM_003119.4(SPG7):c.1931C>A (p.Thr644Asn)not specified [RCV003405074]uncertain significance168955313089553130Humanname
401935943CV2814586single nucleotide variantNM_003119.4(SPG7):c.1016C>G (p.Ala339Gly)not provided [RCV003413054]uncertain significance168953193289531932Humanname
401903605CV2814589single nucleotide variantNM_003119.4(SPG7):c.1652G>A (p.Arg551His)not provided [RCV003419525]uncertain significance168954810289548102Humanname
401962381CV2845054single nucleotide variantNM_003119.4(SPG7):c.2065C>T (p.Arg689Cys)Hereditary spastic paraplegia 7 [RCV005100308]|not provided [RCV003482515]uncertain significance168955392289553922Human1name
401962384CV2845055single nucleotide variantNM_003119.4(SPG7):c.2379G>T (p.Trp793Cys)Inborn genetic diseases [RCV005281405]|not provided [RCV003482516]uncertain significance168955708489557084Human1name
402494685CV2863242single nucleotide variantNM_003119.4(SPG7):c.1595C>G (p.Ala532Gly)Hereditary spastic paraplegia 7 [RCV003508061]uncertain significance168954804589548045Human1name
402491885CV2865758single nucleotide variantNM_003119.4(SPG7):c.2326G>T (p.Glu776Ter)Hereditary spastic paraplegia 7 [RCV003507689]uncertain significance168955703189557031Human1name
402499961CV2889191single nucleotide variantNM_003119.4(SPG7):c.1595C>T (p.Ala532Val)Hereditary spastic paraplegia 7 [RCV003508608]uncertain significance168954804589548045Human1name
402502521CV2899312single nucleotide variantNM_003119.4(SPG7):c.1651C>T (p.Arg551Cys)Hereditary spastic paraplegia 7 [RCV003508893]uncertain significance168954810189548101Human1name
402502908CV2902401single nucleotide variantNM_003119.4(SPG7):c.1418G>A (p.Arg473Gln)Hereditary spastic paraplegia 7 [RCV003508933]uncertain significance168954474189544741Human1name
402486305CV2919708single nucleotide variantNM_003119.4(SPG7):c.1217A>G (p.Tyr406Cys)Hereditary spastic paraplegia 7 [RCV003507020]uncertain significance168953252989532529Human1name
405130008CV2941792single nucleotide variantNM_003119.4(SPG7):c.1064A>G (p.Lys355Arg)Hereditary spastic paraplegia 7 [RCV003618175]uncertain significance168953198089531980Human1name
405130600CV2953907single nucleotide variantNM_003119.4(SPG7):c.1701A>T (p.Glu567Asp)Hereditary spastic paraplegia 7 [RCV003618238]uncertain significance168955053189550531Human1name
405131036CV2955383single nucleotide variantNM_003119.4(SPG7):c.1412T>C (p.Leu471Pro)Hereditary spastic paraplegia 7 [RCV003618283]uncertain significance168954473589544735Human1name
405131462CV2971701single nucleotide variantNM_003119.4(SPG7):c.1241G>A (p.Gly414Asp)Hereditary spastic paraplegia 7 [RCV003618353]uncertain significance168953255389532553Human1name
405134915CV2998287single nucleotide variantNM_003119.4(SPG7):c.1907A>C (p.Glu636Ala)Hereditary spastic paraplegia 7 [RCV003618688]uncertain significance168955310689553106Human1name
405123879CV3012238single nucleotide variantNM_003119.4(SPG7):c.2197C>A (p.Leu733Met)Hereditary spastic paraplegia 7 [RCV003617403]uncertain significance168955690289556902Human1name
405126285CV3036249single nucleotide variantNM_003119.4(SPG7):c.1219A>C (p.Ile407Leu)Hereditary spastic paraplegia 7 [RCV003617707]uncertain significance168953253189532531Human1name
405138152CV3075383single nucleotide variantNM_003119.4(SPG7):c.1711G>T (p.Val571Phe)Hereditary spastic paraplegia 7 [RCV003619005]uncertain significance168955054189550541Human1name
404997531CV3123882single nucleotide variantNM_003119.4(SPG7):c.2123C>T (p.Ala708Val)Hereditary spastic paraplegia 7 [RCV003827789]uncertain significance168955450589554505Human1name
405143573CV3155711single nucleotide variantNM_003119.4(SPG7):c.1769C>A (p.Ala590Asp)Hereditary spastic paraplegia 7 [RCV003855753]uncertain significance168955059989550599Human1name
405235336CV3155888single nucleotide variantNM_003119.4(SPG7):c.1616C>G (p.Ser539Cys)Hereditary spastic paraplegia 7 [RCV003853621]uncertain significance168954806689548066Human1name
402468947CV3174636single nucleotide variantNM_003119.4(SPG7):c.2248C>T (p.Pro750Ser)Hereditary spastic paraplegia 7 [RCV003873746]uncertain significance168955695389556953Human1name
405253231CV3178175single nucleotide variantNM_003119.4(SPG7):c.1645G>A (p.Val549Met)Hereditary spastic paraplegia 7 [RCV003870955]|not provided [RCV004820316]uncertain significance168954809589548095Human1name
405746325CV3226390single nucleotide variantNM_003119.4(SPG7):c.1853C>T (p.Thr618Ile)Hereditary spastic paraplegia 7 [RCV003991381]uncertain significance168955305289553052Human1name
405719233CV3323109single nucleotide variantNM_003119.4(SPG7):c.1280C>A (p.Thr427Lys)Inborn genetic diseases [RCV004462898]uncertain significance168953259289532592Human1name
405735438CV3323110single nucleotide variantNM_003119.4(SPG7):c.1304A>G (p.Gln435Arg)Inborn genetic diseases [RCV004464882]uncertain significance168953261689532616Human1name
405735445CV3323111single nucleotide variantNM_003119.4(SPG7):c.1682A>T (p.Lys561Met)Inborn genetic diseases [RCV004464883]uncertain significance168955051289550512Human1name
405735453CV3323112single nucleotide variantNM_003119.4(SPG7):c.1924G>A (p.Glu642Lys)Inborn genetic diseases [RCV004464884]likely benign168955312389553123Human1name
408394831CV3395413single nucleotide variantNM_003119.4(SPG7):c.1745G>T (p.Gly582Val)Hereditary spastic paraplegia 7 [RCV004765045]uncertain significance168955057589550575Human1name
408394782CV3395418single nucleotide variantNM_003119.4(SPG7):c.2096T>C (p.Met699Thr)Hereditary spastic paraplegia 7 [RCV004765050]uncertain significance168955395389553953Human1name
408394785CV3395421single nucleotide variantNM_003119.4(SPG7):c.1879T>C (p.Cys627Arg)Hereditary spastic paraplegia 7 [RCV004765053]uncertain significance168955307889553078Human1name
408394798CV3395434single nucleotide variantNM_003119.4(SPG7):c.1508C>T (p.Thr503Ile)Hereditary spastic paraplegia 7 [RCV004765066]uncertain significance168954671689546716Human1name
408394802CV3395438single nucleotide variantNM_003119.4(SPG7):c.1310T>C (p.Leu437Pro)Hereditary spastic paraplegia 7 [RCV004765070]likely pathogenic168953262289532622Human1name
408394804CV3395440single nucleotide variantNM_003119.4(SPG7):c.1641C>A (p.Tyr547Ter)Hereditary spastic paraplegia 7 [RCV004765072]likely pathogenic168954809189548091Human1name
408394806CV3395442single nucleotide variantNM_003119.4(SPG7):c.2074A>G (p.Ser692Gly)Hereditary spastic paraplegia 7 [RCV004765074]uncertain significance168955393189553931Human1name
408394811CV3395447single nucleotide variantNM_003119.4(SPG7):c.2163C>G (p.Asn721Lys)Hereditary spastic paraplegia 7 [RCV004765079]uncertain significance168955454589554545Human1name
596945336CV3401470single nucleotide variantNM_003119.4(SPG7):c.1756G>T (p.Glu586Ter)Hereditary spastic paraplegia 7 [RCV004818491]likely pathogenic168955058689550586Human1name
596939711CV3407970single nucleotide variantNM_003119.4(SPG7):c.2219A>G (p.Tyr740Cys)Hereditary spastic paraplegia 7 [RCV005101941]|Retinal dystrophy [RCV004814430]uncertain significance168955692489556924Human3name
408386015CV3415492single nucleotide variantNM_003119.4(SPG7):c.1417C>T (p.Arg473Trp)Hereditary spastic paraplegia 7 [RCV004767593]likely pathogenic168954474089544740Human1name
407456022CV3415714single nucleotide variantNM_003119.4(SPG7):c.1522C>T (p.Arg508Cys)not provided [RCV004598590]uncertain significance168954673089546730Humanname
407511275CV3477816single nucleotide variantNM_003119.4(SPG7):c.1874G>A (p.Arg625Gln)Inborn genetic diseases [RCV004673038]uncertain significance168955307389553073Human1name
407511278CV3477817single nucleotide variantNM_003119.4(SPG7):c.1945G>A (p.Asp649Asn)Inborn genetic diseases [RCV004673039]uncertain significance168955380289553802Human1name
407472069CV3495196single nucleotide variantNM_003119.4(SPG7):c.1594G>A (p.Ala532Thr)not specified [RCV004689471]uncertain significance168954804489548044Humanname
407472301CV3495248single nucleotide variantNM_003119.4(SPG7):c.2081G>A (p.Gly694Asp)not specified [RCV004689523]uncertain significance168955393889553938Humanname
408381274CV3501450single nucleotide variantNM_003119.4(SPG7):c.1476C>G (p.His492Gln)not provided [RCV004727539]uncertain significance168954668489546684Humanname
408368771CV3502653single nucleotide variantNM_003119.4(SPG7):c.1146T>G (p.Ile382Met)not provided [RCV004723774]uncertain significance168953206289532062Humanname
408384614CV3504414single nucleotide variantNM_003119.4(SPG7):c.1373C>T (p.Ala458Val)SPG7-related disorder [RCV004731956]uncertain significance168954469689544696Humanname , trait , alternate_id
408393135CV3519714single nucleotide variantNM_003119.4(SPG7):c.1168G>A (p.Val390Met)not provided [RCV004764010]uncertain significance168953248089532480Humanname
408391216CV3521254single nucleotide variantNM_003119.4(SPG7):c.1531G>A (p.Glu511Lys)not provided [RCV004763076]uncertain significance168954673989546739Humanname
408387537CV3524567single nucleotide variantNM_003119.4(SPG7):c.1310T>G (p.Leu437Arg)not provided [RCV004768441]uncertain significance168953262289532622Humanname
408389167CV3529250single nucleotide variantNM_003119.4(SPG7):c.1118T>C (p.Met373Thr)not provided [RCV004774072]uncertain significance168953203489532034Humanname
596926665CV3530865single nucleotide variantNM_003119.4(SPG7):c.2146A>G (p.Lys716Glu)not provided [RCV004778450]uncertain significance168955452889554528Humanname
596927488CV3532603single nucleotide variantNM_003119.4(SPG7):c.1694A>G (p.Lys565Arg)not provided [RCV004778701]uncertain significance168955052489550524Humanname
596932990CV3539618single nucleotide variantNM_003119.4(SPG7):c.1561A>G (p.Ile521Val)not provided [RCV004794243]uncertain significance168954801189548011Humanname
596932991CV3539619single nucleotide variantNM_003119.4(SPG7):c.2117T>C (p.Leu706Pro)not provided [RCV004794244]uncertain significance168955449989554499Humanname
596947259CV3548809single nucleotide variantNM_003119.4(SPG7):c.1063A>T (p.Lys355Ter)not provided [RCV004811133]pathogenic168953197989531979Humanname
597731645CV3607477single nucleotide variantNM_003119.4(SPG7):c.1159G>A (p.Ala387Thr)Hereditary spastic paraplegia 7 [RCV005392917]|Inborn genetic diseases [RCV004964099]uncertain significance168953247189532471Human2name
597731651CV3607478single nucleotide variantNM_003119.4(SPG7):c.2360G>C (p.Gly787Ala)Inborn genetic diseases [RCV004964100]uncertain significance168955706589557065Human1name
597758864CV3711973single nucleotide variantNM_003119.4(SPG7):c.1498C>T (p.Gln500Ter)Hereditary spastic paraplegia 7 [RCV005017896]likely pathogenic168954670689546706Human1name
597758869CV3711975single nucleotide variantNM_003119.4(SPG7):c.2089C>T (p.Gln697Ter)Hereditary spastic paraplegia 7 [RCV005017897]likely pathogenic168955394689553946Human1name
597665467CV3732621single nucleotide variantNM_003119.4(SPG7):c.1075G>A (p.Ala359Thr)not provided [RCV005004092]uncertain significance168953199189531991Humanname
597830540CV3743077single nucleotide variantNM_003119.4(SPG7):c.2192C>T (p.Ala731Val)Hereditary spastic paraplegia 7 [RCV005062085]uncertain significance168955689789556897Human1name
597855987CV3747991single nucleotide variantNM_003119.4(SPG7):c.1016C>A (p.Ala339Asp)Hereditary spastic paraplegia 7 [RCV005066812]uncertain significance168953193289531932Human1name
597958901CV3751885single nucleotide variantNM_003119.4(SPG7):c.2176C>G (p.Gln726Glu)Hereditary spastic paraplegia 7 [RCV005081014]uncertain significance168955455889554558Human1name
597946157CV3755509single nucleotide variantNM_003119.4(SPG7):c.1768G>T (p.Ala590Ser)Hereditary spastic paraplegia 7 [RCV005078518]uncertain significance168955059889550598Human1name
597946531CV3755603single nucleotide variantNM_003119.4(SPG7):c.1851C>G (p.Phe617Leu)Hereditary spastic paraplegia 7 [RCV005078613]|not provided [RCV005429494]uncertain significance168955305089553050Human1name
597848681CV3762219single nucleotide variantNM_003119.4(SPG7):c.1082C>T (p.Ala361Val)not specified [RCV005087637]uncertain significance168953199889531998Humanname
597963399CV3791935single nucleotide variantNM_003119.4(SPG7):c.1120G>A (p.Ala374Thr)Hereditary spastic paraplegia 7 [RCV005139491]uncertain significance168953203689532036Human1name
597962119CV3809084single nucleotide variantNM_003119.4(SPG7):c.2293G>C (p.Asp765His)Hereditary spastic paraplegia 7 [RCV005163986]uncertain significance168955699889556998Human1name
597913089CV3833748single nucleotide variantNM_003119.4(SPG7):c.1175G>T (p.Ser392Ile)Hereditary spastic paraplegia 7 [RCV005183108]uncertain significance168953248789532487Human1name
597865740CV3834355single nucleotide variantNM_003119.4(SPG7):c.1223A>G (p.Asp408Gly)Hereditary spastic paraplegia 7 [RCV005175722]uncertain significance168953253589532535Human1name
597869429CV3835173single nucleotide variantNM_003119.4(SPG7):c.2348A>G (p.Gln783Arg)Hereditary spastic paraplegia 7 [RCV005176349]uncertain significance168955705389557053Human1name
597892358CV3836015single nucleotide variantNM_003119.4(SPG7):c.1453A>G (p.Arg485Gly)Hereditary spastic paraplegia 7 [RCV005179788]uncertain significance168954666189546661Human1name
597868847CV3838924single nucleotide variantNM_003119.4(SPG7):c.2102A>T (p.His701Leu)Hereditary spastic paraplegia 7 [RCV005176220]uncertain significance168955395989553959Human1name
597951548CV3843332single nucleotide variantNM_003119.4(SPG7):c.1486C>G (p.Leu496Val)Hereditary spastic paraplegia 7 [RCV005190382]uncertain significance168954669489546694Human1name
597904097CV3846101single nucleotide variantNM_003119.4(SPG7):c.2218T>C (p.Tyr740His)Hereditary spastic paraplegia 7 [RCV005181723]uncertain significance168955692389556923Human1name
597942989CV3847386single nucleotide variantNM_003119.4(SPG7):c.2320G>A (p.Gly774Ser)Hereditary spastic paraplegia 7 [RCV005188305]uncertain significance168955702589557025Human1name
597906290CV3856860single nucleotide variantNM_003119.4(SPG7):c.1804G>A (p.Ala602Thr)Hereditary spastic paraplegia 7 [RCV005202909]uncertain significance168955300389553003Human1name
598129307CV3888601single nucleotide variantNM_003119.4(SPG7):c.2185G>C (p.Ala729Pro)not provided [RCV005244775]uncertain significance168955689089556890Humanname
598262946CV3919193single nucleotide variantNM_003119.4(SPG7):c.1262T>C (p.Met421Thr)Inborn genetic diseases [RCV005280347]uncertain significance168953257489532574Human1name
598262948CV3919194single nucleotide variantNM_003119.4(SPG7):c.1210A>G (p.Ile404Val)Inborn genetic diseases [RCV005280348]uncertain significance168953252289532522Human1name
617149834CV4017325single nucleotide variantNM_003119.4(SPG7):c.1834A>G (p.Arg612Gly)not provided [RCV005416982]uncertain significance168955303389553033Humanname
13467504CV411590single nucleotide variantNM_003119.4(SPG7):c.1442C>T (p.Thr481Met)Hereditary spastic paraplegia 7 [RCV002525982]|Hereditary spastic paraplegia [RCV000516119]|not provided [RCV001310348]uncertain significance168954476589544765Human2name
13504250CV441936single nucleotide variantNM_003119.4(SPG7):c.1807G>A (p.Ala603Thr)Hereditary spastic paraplegia 7 [RCV001121650]|not provided [RCV004691828]|not specified [RCV000516941]uncertain significance168955300689553006Human1name
13477072CV445680single nucleotide variantNM_003119.4(SPG7):c.1931C>T (p.Thr644Ile)Hereditary spastic paraplegia 7 [RCV001066395]|not provided [RCV000520300]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance168955313089553130Human1name
13476925CV445682single nucleotide variantNM_003119.4(SPG7):c.2227A>C (p.Ile743Leu)not provided [RCV000520263]uncertain significance168955693289556932Humanname
13474704CV466845single nucleotide variantNM_003119.4(SPG7):c.1175G>A (p.Ser392Asn)Hereditary spastic paraplegia 7 [RCV000548390]|not provided [RCV001289254]uncertain significance168953248789532487Human1name
13509148CV482113single nucleotide variantNM_003119.4(SPG7):c.1369C>T (p.Arg457Ter)Hereditary spastic paraplegia 7 [RCV001391430]|not provided [RCV000579008]pathogenic168954469289544692Human1name
8605002CV51184single nucleotide variantNM_003119.4(SPG7):c.1529C>T (p.Ala510Val)Dysarthria [RCV000626837]|Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 [RCV002463623]|Hereditary spastic paraplegia 7 [RCV000034858]|Hereditary spastic paraplegia [RCV000515835]|Inborn genetic diseases [RCV000623796]|Intellectual disability [RCV000850200]|Optic nerve hypoplasia [RCpathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records|not provided168954673789546737Human20name , alternate_id
13609963CV530508single nucleotide variantNM_003119.4(SPG7):c.1654G>A (p.Val552Ile)Hereditary spastic paraplegia 7 [RCV000640976]|Inborn genetic diseases [RCV002533253]uncertain significance168954810489548104Human2name
21071466CV791658single nucleotide variantNM_003119.4(SPG7):c.1997G>T (p.Gly666Val)Hereditary spastic paraplegia 7 [RCV000989666]likely pathogenic168955385489553854Human1name
21071501CV793653single nucleotide variantNM_003119.4(SPG7):c.2026T>C (p.Phe676Leu)Hereditary spastic paraplegia 7 [RCV002549827]|not provided [RCV000993073]likely pathogenic|uncertain significance168955388389553883Human1name
21071505CV793654single nucleotide variantNM_003119.4(SPG7):c.2183T>G (p.Leu728Arg)not provided [RCV000993074]uncertain significance168955688889556888Humanname
21075492CV797461single nucleotide variantNM_003119.4(SPG7):c.1327A>G (p.Met443Val)not provided [RCV000996409]uncertain significance168954465089544650Humanname
21075495CV797464single nucleotide variantNM_003119.4(SPG7):c.2271G>A (p.Met757Ile)not provided [RCV000996414]uncertain significance168955697689556976Humanname
26898037CV844503single nucleotide variantNM_003119.4(SPG7):c.1601G>A (p.Arg534Gln)Hereditary spastic paraplegia 7 [RCV001035268]|Inborn genetic diseases [RCV004962998]|not provided [RCV004720041]uncertain significance168954805189548051Human2name
26900786CV844504single nucleotide variantNM_003119.4(SPG7):c.1720C>T (p.His574Tyr)Hereditary spastic paraplegia 7 [RCV001053922]uncertain significance168955055089550550Human1name
26898244CV844505single nucleotide variantNM_003119.4(SPG7):c.2027T>C (p.Phe676Ser)Hereditary spastic paraplegia 7 [RCV001036140]uncertain significance168955388489553884Human1name
26898400CV844506single nucleotide variantNM_003119.4(SPG7):c.2131T>G (p.Tyr711Asp)Hereditary spastic paraplegia 7 [RCV001037124]uncertain significance168955451389554513Human1name
28882371CV876185single nucleotide variantNM_003119.4(SPG7):c.1172G>A (p.Arg391Gln)Hereditary spastic paraplegia 7 [RCV001118113]|SPG7-related disorder [RCV004753210]uncertain significance168953248489532484Human1name , alternate_id
28893309CV876190single nucleotide variantNM_003119.4(SPG7):c.1699G>A (p.Glu567Lys)Hereditary spastic paraplegia 7 [RCV001121648]|Inborn genetic diseases [RCV003363115]|not provided [RCV004761935]uncertain significance168955052989550529Human2name
28893313CV876191single nucleotide variantNM_003119.4(SPG7):c.1735G>A (p.Ala579Thr)Hereditary spastic paraplegia 7 [RCV001121649]uncertain significance168955056589550565Human1name
28878034CV876192single nucleotide variantNM_003119.4(SPG7):c.2225A>G (p.Asp742Gly)Hereditary spastic paraplegia 7 [RCV001116770]|Hereditary spastic paraplegia [RCV001847163]uncertain significance168955693089556930Human2name
38466233CV920908single nucleotide variantNM_003119.4(SPG7):c.1894G>A (p.Gly632Arg)Hereditary spastic paraplegia 7 [RCV001542601]|Hereditary spastic paraplegia [RCV001847187]|not provided [RCV001200106]pathogenic|likely pathogenic|uncertain significance168955309389553093Human2name
38481960CV949641single nucleotide variantNM_003119.4(SPG7):c.1756G>C (p.Glu586Gln)Hereditary spastic paraplegia 7 [RCV001235362]uncertain significance168955058689550586Human1name
40814380CV969131single nucleotide variantNM_003119.4(SPG7):c.1543G>C (p.Gly515Arg)Hereditary spastic paraplegia 7 [RCV001260248]uncertain significance168954675189546751Human1name
40814381CV969132single nucleotide variantNM_003119.4(SPG7):c.1967G>C (p.Arg656Pro)Hereditary spastic paraplegia 7 [RCV001260249]conflicting interpretations of pathogenicity|uncertain significance168955382489553824Human1name
40814979CV971059single nucleotide variantNM_003119.4(SPG7):c.1238T>A (p.Val413Glu)Hereditary spastic paraplegia 7 [RCV001262387]uncertain significance168953255089532550Human1name
40904120CV976418single nucleotide variantNM_003119.4(SPG7):c.1259C>T (p.Thr420Ile)not provided [RCV001269941]likely pathogenic168953257189532571Humanname
10042293CV186292single nucleotide variantNM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)Hereditary spastic paraplegia 7 [RCV000168257]|Hereditary spastic paraplegia [RCV001847793]|Inborn genetic diseases [RCV002515187]|Mitochondrial disease [RCV000508922]|SPG7-related disorder [RCV003416049]|not provided [RCV000413970]pathogenic168955050289550502Human4alternate_id
10410453CV211768single nucleotide variantNM_003119.4(SPG7):c.1909G>A (p.Ala637Thr)Hereditary spastic paraplegia 7 [RCV000867765]|SPG7-related disorder [RCV003955198]|not provided [RCV004808627]|not specified [RCV000198210]likely benign168955310889553108Human1alternate_id
10411374CV211771single nucleotide variantNM_003119.4(SPG7):c.2104G>A (p.Glu702Lys)Hereditary spastic paraplegia 7 [RCV002515440]|SPG7-related disorder [RCV003417715]|not provided [RCV000200130]likely pathogenic|uncertain significance168955448689554486Human1alternate_id
10410751CV211774single nucleotide variantNM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)Hereditary spastic paraplegia 7 [RCV000500664]|Hereditary spastic paraplegia [RCV001847889]|SPG7-related disorder [RCV003401074]|Spastic ataxia [RCV001640295]|not provided [RCV000198819]pathogenic|likely pathogenic168955693389556933Human4alternate_id
10768377CV222538single nucleotide variantNM_003119.4(SPG7):c.1904C>T (p.Ser635Leu)Hereditary spastic paraplegia 7 [RCV000206309]|SPG7-related disorder [RCV003897449]|not provided [RCV000993072]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance168955310389553103Human1alternate_id
11629551CV344561single nucleotide variantNM_003119.4(SPG7):c.1564G>A (p.Ala522Thr)Hereditary spastic paraplegia 7 [RCV000325890]|Inborn genetic diseases [RCV004965409]|SPG7-related disorder [RCV003409504]uncertain significance168954801489548014Human2alternate_id
408384814CV3503645deletionNM_003119.4(SPG7):c.266_269del (p.Val89fs)SPG7-related disorder [RCV004732135]likely pathogenic168951056989510572Humantrait , alternate_id
408384928CV3506548indelNM_003119.4(SPG7):c.2062_2063delinsTA (p.Arg688Ter)SPG7-related disorder [RCV004732236]likely pathogenic168955391989553920Humantrait , alternate_id
13529033CV497082microsatelliteNM_003119.4(SPG7):c.773_774del (p.Val258fs)Hereditary spastic paraplegia 7 [RCV000989664]|Hereditary spastic paraplegia [RCV000615294]|SPG7-related disorder [RCV003403411]|not provided [RCV005000374]pathogenic168952948989529490Humanalternate_id
150421490CV1195136deletionNM_003119.4(SPG7):c.1324+3864_1324+3867delnot provided [RCV001570568]likely benign168953649989536502Humanname
150471380CV1209536deletionNM_003119.4(SPG7):c.1324+3842_1324+3850delnot provided [RCV001588647]likely benign168953647889536486Humanname
150531295CV1291107duplicationNM_003119.4(SPG7):c.1324+3989_1324+3997dupnot provided [RCV001733003]likely benign168953662489536625Humanname
150440434CV1287182insertionNM_003119.4(SPG7):c.377-245_377-244insTCTCAnot provided [RCV001725097]benign168952376089523761Humanname
8559566CV21857indelNM_003119.4(SPG7):c.1450-446_1779+746delinsAAAGTGCTHereditary spastic paraplegia 7 [RCV000007220]pathogenic168954621289551355Humanname
150476584CV1218498insertionNM_003119.4(SPG7):c.1324+3893_1324+3894insAGGTGAGGTGAGGCnot provided [RCV001616125]benign168953652089536521Humanname
150333147CV1169705insertionNM_003119.4(SPG7):c.1324+3849_1324+3850insCGGGCGAGGCGGGCGAGGnot provided [RCV001537184]benign168953648189536482Humanname
150426211CV1185187insertionNM_003119.4(SPG7):c.1324+3849_1324+3850insCCGGGTGAGGCGGGCGAGGCGGGCGAGGCCAGGTGAGGCGGGTGAGGnot provided [RCV001559062]likely benign168953646989536470Humanname
13479936CV445681single nucleotide variantNM_003119.4(SPG7):c.1939G>T (p.Ala647Ser)Hereditary spastic paraplegia 7 [RCV001062199]|Hereditary spastic paraplegia [RCV001848911]|not provided [RCV000521089]uncertain significance168955379689553796Human2name