Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


295 records found for search term Sparc
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
126736501CV1020061single nucleotide variantNM_003118.4(SPARC):c.*55C>GOsteogenesis imperfecta type 17 [RCV001335095]uncertain significance5151663516151663516Human1name
150437925CV1262386single nucleotide variantNM_003118.4(SPARC):c.*29C>Gnot provided [RCV001678745]benign5151663542151663542Humanname
405257496CV3189928single nucleotide variantNM_003118.4(SPARC):c.*47C>TSPARC-related disorder [RCV003892283]likely benign5151663524151663524Humanname , trait , alternate_id
150543093CV1306711single nucleotide variantNM_003118.4(SPARC):c.*148T>Anot provided [RCV001769775]likely benign5151663423151663423Humanname
153347149CV1694454single nucleotide variantNM_003118.4(SPARC):c.*582G>COsteogenesis imperfecta [RCV002277851]benign5151662989151662989Human1name
156107525CV2139981single nucleotide variantNM_003118.4(SPARC):c.58-8T>Cnot provided [RCV003002456]likely benign5151674682151674682Humanname
405127449CV2957128single nucleotide variantNM_003118.4(SPARC):c.58-6C>Tnot provided [RCV003672094]likely benign5151674680151674680Humanname
405281766CV3224339single nucleotide variantNM_003118.4(SPARC):c.57+1G>COsteogenesis imperfecta type 17 [RCV003988721]pathogenic5151676131151676131Human1name
150463297CV1273133single nucleotide variantNM_003118.4(SPARC):c.57+56G>Cnot provided [RCV001693890]benign5151676076151676076Humanname
151869947CV1436569single nucleotide variantNM_003118.4(SPARC):c.585+1G>Tnot provided [RCV002018805]uncertain significance5151667466151667466Humanname
151770104CV1502400single nucleotide variantNM_003118.4(SPARC):c.331-3C>Tnot provided [RCV001896253]uncertain significance5151669787151669787Humanname
152101442CV1645808single nucleotide variantNM_003118.4(SPARC):c.734+8C>Gnot provided [RCV002173157]likely benign5151666353151666353Humanname
156391485CV2006225single nucleotide variantNM_003118.4(SPARC):c.58-11C>Gnot provided [RCV002654426]likely benign5151674685151674685Humanname
156323367CV2022355single nucleotide variantNM_003118.4(SPARC):c.883+9C>Gnot provided [RCV002717242]likely benign5151664078151664078Humanname
156312307CV2160484single nucleotide variantNM_003118.4(SPARC):c.120+4T>Cnot provided [RCV003046102]uncertain significance5151674608151674608Humanname
156316713CV2169255single nucleotide variantNM_003118.4(SPARC):c.209-3C>Tnot provided [RCV003028905]uncertain significance5151671697151671697Humanname
156175242CV2181409single nucleotide variantNM_003118.4(SPARC):c.330+5G>Anot provided [RCV003057348]uncertain significance5151671568151671568Humanname
405031813CV2922517single nucleotide variantNM_003118.4(SPARC):c.120+9G>Anot provided [RCV003578417]likely benign5151674603151674603Humanname
405092252CV2937438single nucleotide variantNM_003118.4(SPARC):c.121-5T>Cnot provided [RCV003665304]likely benign5151673221151673221Humanname
405150365CV2956985single nucleotide variantNM_003118.4(SPARC):c.586-6C>Tnot provided [RCV003670013]likely benign5151666515151666515Humanname
405248820CV3180092single nucleotide variantNM_003118.4(SPARC):c.735-6C>Tnot provided [RCV003869552]likely benign5151664241151664241Humanname
402507381CV3181757single nucleotide variantNM_003118.4(SPARC):c.883+7G>Anot provided [RCV003878591]likely benign5151664080151664080Humanname
405259360CV3194715single nucleotide variantNM_003118.4(SPARC):c.209-4A>GSPARC-related disorder [RCV003894107]likely benign5151671698151671698Humanname , trait , alternate_id
597837404CV3761495single nucleotide variantNM_003118.4(SPARC):c.734+7C>Tnot provided [RCV005085866]likely benign5151666354151666354Humanname
597893471CV3857086single nucleotide variantNM_003118.4(SPARC):c.209-8C>Tnot provided [RCV005200949]likely benign5151671702151671702Humanname
597918784CV3861598single nucleotide variantNM_003118.4(SPARC):c.120+7G>Anot provided [RCV005204754]likely benign5151674605151674605Humanname
15175229CV730348single nucleotide variantNM_003118.4(SPARC):c.120+8G>TOsteogenesis imperfecta [RCV002279606]|Osteogenesis imperfecta type 17 [RCV003117634]|not provided [RCV000884315]benign5151674604151674604Human2name
15147522CV744215single nucleotide variantNM_003118.4(SPARC):c.120+5G>ASPARC-related disorder [RCV003950557]|not provided [RCV000900537]likely benign|conflicting interpretations of pathogenicity5151674607151674607Human1name , trait , alternate_id
150453249CV1231802single nucleotide variantNM_003118.4(SPARC):c.120+36T>Gnot provided [RCV001648109]benign5151674576151674576Humanname
150476558CV1251878single nucleotide variantNM_003118.4(SPARC):c.331-59T>Gnot provided [RCV001672077]benign5151669843151669843Humanname
150492906CV1267038single nucleotide variantNM_003118.4(SPARC):c.208+31C>TOsteogenesis imperfecta type 17 [RCV001810253]|not provided [RCV001688065]benign5151673098151673098Human1name
150497542CV1281419single nucleotide variantNM_003118.4(SPARC):c.884-53C>Tnot provided [RCV001717868]benign5151663652151663652Humanname
150436724CV1286416single nucleotide variantNM_003118.4(SPARC):c.452-69T>Gnot provided [RCV001724492]benign5151667669151667669Humanname
150436744CV1286419single nucleotide variantNM_003118.4(SPARC):c.120+42T>COsteogenesis imperfecta type 17 [RCV001810296]|not provided [RCV001724495]benign5151674570151674570Human1name
150534951CV1306730single nucleotide variantNM_003118.4(SPARC):c.586-37A>Gnot provided [RCV001757728]likely benign5151666546151666546Humanname
152116943CV1523924single nucleotide variantNM_003118.4(SPARC):c.120+17C>Tnot provided [RCV002135215]likely benign5151674595151674595Humanname
152094111CV1561720single nucleotide variantNM_003118.4(SPARC):c.586-18C>Tnot provided [RCV002194685]likely benign5151666527151666527Humanname
152174587CV1591237single nucleotide variantNM_003118.4(SPARC):c.209-11C>Gnot provided [RCV002184563]likely benign5151671705151671705Humanname
152067866CV1592247single nucleotide variantNM_003118.4(SPARC):c.735-19C>Tnot provided [RCV002168909]likely benign5151664254151664254Humanname
152170757CV1592570single nucleotide variantNM_003118.4(SPARC):c.734+11A>Cnot provided [RCV002161877]likely benign5151666350151666350Humanname
152032805CV1643185single nucleotide variantNM_003118.4(SPARC):c.121-20T>Cnot provided [RCV002205050]likely benign5151673236151673236Humanname
156387982CV1955043single nucleotide variantNM_003118.4(SPARC):c.120+18G>Anot provided [RCV002583632]likely benign5151674594151674594Humanname
156121644CV1959489single nucleotide variantNM_003118.4(SPARC):c.208+16G>Anot provided [RCV002571889]likely benign5151673113151673113Humanname
156415052CV1983156single nucleotide variantNM_003118.4(SPARC):c.585+18C>Anot provided [RCV002609489]likely benign5151667449151667449Humanname
156043371CV2026490single nucleotide variantNM_003118.4(SPARC):c.735-14C>Tnot provided [RCV002736267]likely benign5151664249151664249Humanname
156371357CV2174565single nucleotide variantNM_003118.4(SPARC):c.452-15G>Tnot provided [RCV003049724]likely benign5151667615151667615Humanname
156004651CV2179369single nucleotide variantNM_003118.4(SPARC):c.734+15C>Tnot provided [RCV003034935]likely benign5151666346151666346Humanname
156163254CV2191979single nucleotide variantNM_003118.4(SPARC):c.586-19A>Gnot provided [RCV003040787]likely benign5151666528151666528Humanname
405157520CV2897998single nucleotide variantNM_003118.4(SPARC):c.209-14T>Anot provided [RCV003562162]likely benign5151671708151671708Humanname
405027457CV2928694single nucleotide variantNM_003118.4(SPARC):c.330+10G>Cnot provided [RCV003578110]likely benign5151671563151671563Humanname
405162075CV2951421single nucleotide variantNM_003118.4(SPARC):c.330+16C>Tnot provided [RCV003670800]likely benign5151671557151671557Humanname
405227455CV2963404single nucleotide variantNM_003118.4(SPARC):c.452-18C>Anot provided [RCV003681586]likely benign5151667618151667618Humanname
405138995CV2970309single nucleotide variantNM_003118.4(SPARC):c.121-18C>Tnot provided [RCV003669035]likely benign5151673234151673234Humanname
404980638CV3006132single nucleotide variantNM_003118.4(SPARC):c.120+16C>Tnot provided [RCV003691155]likely benign5151674596151674596Humanname
402521715CV3011244single nucleotide variantNM_003118.4(SPARC):c.330+14G>Cnot provided [RCV003716481]likely benign5151671559151671559Humanname
402524090CV3011540single nucleotide variantNM_003118.4(SPARC):c.585+11T>Cnot provided [RCV003716652]likely benign5151667456151667456Humanname
402480458CV3041443single nucleotide variantNM_003118.4(SPARC):c.120+11A>Gnot provided [RCV003712787]likely benign5151674601151674601Humanname
405204003CV3144047single nucleotide variantNM_003118.4(SPARC):c.120+17C>Gnot provided [RCV003844837]likely benign5151674595151674595Humanname
405209862CV3145915single nucleotide variantNM_003118.4(SPARC):c.734+14C>Tnot provided [RCV003845645]likely benign5151666347151666347Humanname
597878407CV3744371single nucleotide variantNM_003118.4(SPARC):c.209-11C>Tnot provided [RCV005069585]|not specified [RCV005417497]likely benign5151671705151671705Humanname
597890105CV3749249single nucleotide variantNM_003118.4(SPARC):c.735-11C>Tnot provided [RCV005071033]likely benign5151664246151664246Humanname
597846826CV3761938single nucleotide variantNM_003118.4(SPARC):c.884-15T>Cnot provided [RCV005087356]likely benign5151663614151663614Humanname
597895378CV3781882single nucleotide variantNM_003118.4(SPARC):c.884-18T>Cnot provided [RCV005126310]likely benign5151663617151663617Humanname
597905271CV3784747single nucleotide variantNM_003118.4(SPARC):c.121-12C>Tnot provided [RCV005127798]likely benign5151673228151673228Humanname
597938132CV3788005single nucleotide variantNM_003118.4(SPARC):c.209-18T>Cnot provided [RCV005132884]likely benign5151671712151671712Humanname
597951482CV3798345single nucleotide variantNM_003118.4(SPARC):c.451+17C>Tnot provided [RCV005136125]likely benign5151669647151669647Humanname
597929093CV3816226single nucleotide variantNM_003118.4(SPARC):c.585+18C>Tnot provided [RCV005156807]likely benign5151667449151667449Humanname
597948565CV3818347single nucleotide variantNM_003118.4(SPARC):c.331-19C>Tnot provided [RCV005160608]likely benign5151669803151669803Humanname
597895966CV3834533single nucleotide variantNM_003118.4(SPARC):c.209-20C>Anot provided [RCV005180444]likely benign5151671714151671714Humanname
150337138CV1171380single nucleotide variantNM_003118.4(SPARC):c.209-234C>Gnot provided [RCV001541438]benign5151671928151671928Humanname
150506410CV1226340single nucleotide variantNM_003118.4(SPARC):c.585+100G>Anot provided [RCV001635708]benign5151667367151667367Humanname
150430769CV1231044single nucleotide variantNM_003118.4(SPARC):c.452-332G>Anot provided [RCV001641593]benign5151667932151667932Humanname
150457517CV1237084single nucleotide variantNM_003118.4(SPARC):c.208+153G>Cnot provided [RCV001648763]benign5151672976151672976Humanname
150475858CV1239798single nucleotide variantNM_003118.4(SPARC):c.208+127A>Gnot provided [RCV001651975]benign5151673002151673002Humanname
150443223CV1249248single nucleotide variantNM_003118.4(SPARC):c.121-142G>Anot provided [RCV001666680]benign5151673358151673358Humanname
150497075CV1256645single nucleotide variantNM_003118.4(SPARC):c.585+298T>Cnot provided [RCV001676137]benign5151667169151667169Humanname
150444247CV1258490single nucleotide variantNM_003118.4(SPARC):c.-13-281C>Tnot provided [RCV001679688]benign5151676482151676482Humanname
150436823CV1286433single nucleotide variantNM_003118.4(SPARC):c.586-268G>Anot provided [RCV001724511]benign5151666777151666777Humanname
150542793CV1306610single nucleotide variantNM_003118.4(SPARC):c.-13-120T>Cnot provided [RCV001769674]likely benign5151676321151676321Humanname
150545012CV1307568single nucleotide variantNM_003118.4(SPARC):c.884-140G>Anot provided [RCV001774846]likely benign5151663739151663739Humanname
150545039CV1307584single nucleotide variantNM_003118.4(SPARC):c.585+124G>Anot provided [RCV001774862]likely benign5151667343151667343Humanname
150534777CV1307947single nucleotide variantNM_003118.4(SPARC):c.883+106G>Cnot provided [RCV001757669]likely benign5151663981151663981Humanname
150536068CV1309114single nucleotide variantNM_003118.4(SPARC):c.734+276G>Anot provided [RCV001759321]likely benign5151666085151666085Humanname
150532471CV1309217single nucleotide variantNM_003118.4(SPARC):c.735-252G>Anot provided [RCV001752898]likely benign5151664487151664487Humanname
150531328CV1310810single nucleotide variantNM_003118.4(SPARC):c.208+143G>Anot provided [RCV001776544]likely benign5151672986151672986Humanname
597861561CV3813538microsatelliteNM_003118.4(SPARC):c.586-24CA[3]not provided [RCV005146800]likely benign5151666526151666527Humanname
405154736CV3081231deletionNM_003118.4(SPARC):c.*114_*115delOsteogenesis imperfecta type 17 [RCV003756647]|not provided [RCV004546811]likely benign5151663456151663457Human1name
405165782CV2960663single nucleotide variantNM_003118.4(SPARC):c.9C>A (p.Ala3=)not provided [RCV003674942]likely benign5151676180151676180Humanname
405235324CV3166256single nucleotide variantNM_003118.4(SPARC):c.24C>T (p.Leu8=)not provided [RCV003853705]likely benign5151676165151676165Humanname
150453669CV1276880single nucleotide variantNM_003118.4(SPARC):c.66A>G (p.Glu22=)Osteogenesis imperfecta type 17 [RCV001810280]|not provided [RCV001708670]benign5151674666151674666Human1name
151728867CV1335263single nucleotide variantNM_003118.4(SPARC):c.36C>T (p.Ala12=)not provided [RCV002077330]|not specified [RCV001844581]likely benign5151676153151676153Humanname
152105094CV1633990microsatelliteNM_003118.4(SPARC):c.331-14_331-13delnot provided [RCV002196045]likely benign5151669797151669798Humanname
156358866CV2162292single nucleotide variantNM_003118.4(SPARC):c.75T>C (p.Pro25=)not provided [RCV003031422]likely benign5151674657151674657Humanname
155966910CV2180153single nucleotide variantNM_003118.4(SPARC):c.3G>A (p.Met1Ile)not provided [RCV003033211]uncertain significance5151676186151676186Humanname
405142959CV3126036single nucleotide variantNM_003118.4(SPARC):c.57T>C (p.Pro19=)Osteogenesis imperfecta type 17 [RCV003988153]|not provided [RCV003816952]likely benign|uncertain significance5151676132151676132Human1name
152108433CV1550794single nucleotide variantNM_003118.4(SPARC):c.261G>A (p.Glu87=)not provided [RCV002152721]likely benign5151671642151671642Humanname
156191845CV1904136single nucleotide variantNM_003118.4(SPARC):c.237C>T (p.His79=)not provided [RCV002574438]likely benign5151671666151671666Humanname
156415035CV1983143single nucleotide variantNM_003118.4(SPARC):c.270C>A (p.Thr90=)not provided [RCV002609481]likely benign5151671633151671633Humanname
156252258CV1993496single nucleotide variantNM_003118.4(SPARC):c.114G>C (p.Val38=)not provided [RCV002627488]likely benign5151674618151674618Humanname
155972058CV2079280single nucleotide variantNM_003118.4(SPARC):c.108A>G (p.Ala36=)not provided [RCV002881534]likely benign5151674624151674624Humanname
405202894CV3036365single nucleotide variantNM_003118.4(SPARC):c.249C>T (p.Cys83=)not provided [RCV003707632]likely benign5151671654151671654Humanname
405217642CV3139541single nucleotide variantNM_003118.4(SPARC):c.279C>T (p.Cys93=)not provided [RCV003824232]likely benign5151671624151671624Humanname
404980802CV3183418single nucleotide variantNM_003118.4(SPARC):c.252G>A (p.Glu84=)not provided [RCV003880441]likely benign5151671651151671651Humanname
597955238CV3809429single nucleotide variantNM_003118.4(SPARC):c.246G>A (p.Val82=)not provided [RCV005162153]likely benign5151671657151671657Humanname
15146939CV734979single nucleotide variantNM_003118.4(SPARC):c.204G>A (p.Ala68=)not provided [RCV000900413]benign|likely benign5151673133151673133Humanname
15125280CV764979single nucleotide variantNM_003118.4(SPARC):c.186C>T (p.Thr62=)not provided [RCV000941178]likely benign5151673151151673151Humanname
15126108CV782230single nucleotide variantNM_003118.4(SPARC):c.114G>A (p.Val38=)not provided [RCV000980316]likely benign5151674618151674618Humanname
150436806CV1286431single nucleotide variantNM_003118.4(SPARC):c.55C>T (p.Pro19Ser)Osteogenesis imperfecta [RCV002276870]|Osteogenesis imperfecta type 17 [RCV003754911]|not provided [RCV001724507]benign5151676134151676134Human2name
151758676CV1443685single nucleotide variantNM_003118.4(SPARC):c.34G>T (p.Ala12Ser)not provided [RCV001872986]uncertain significance5151676155151676155Humanname
152095414CV1534026single nucleotide variantNM_003118.4(SPARC):c.666G>A (p.Lys222=)not provided [RCV002151140]likely benign5151666429151666429Humanname
152029820CV1565802single nucleotide variantNM_003118.4(SPARC):c.420G>A (p.Lys140=)not provided [RCV002085934]likely benign5151669695151669695Humanname
152042989CV1621785single nucleotide variantNM_003118.4(SPARC):c.771T>C (p.Ala257=)SPARC-related disorder [RCV003923608]|not provided [RCV002107992]likely benign5151664199151664199Human1name , trait , alternate_id
152157176CV1630483single nucleotide variantNM_003118.4(SPARC):c.870C>T (p.Phe290=)not provided [RCV002122568]likely benign5151664100151664100Humanname
152167645CV1644777single nucleotide variantNM_003118.4(SPARC):c.795C>T (p.Cys265=)not provided [RCV002142211]likely benign5151664175151664175Humanname
152065706CV1654613single nucleotide variantNM_003118.4(SPARC):c.783C>T (p.Pro261=)not provided [RCV002191137]likely benign5151664187151664187Humanname
155645833CV1709189single nucleotide variantNM_003118.4(SPARC):c.44C>A (p.Ala15Asp)not provided [RCV002292065]uncertain significance5151676145151676145Humanname
156373330CV1901886single nucleotide variantNM_003118.4(SPARC):c.37G>A (p.Gly13Arg)Inborn genetic diseases [RCV004073094]|not provided [RCV003092649]uncertain significance5151676152151676152Human1name
156409717CV1922835single nucleotide variantNM_003118.4(SPARC):c.519C>T (p.Asn173=)not provided [RCV002607640]likely benign5151667533151667533Humanname
156057203CV1930748single nucleotide variantNM_003118.4(SPARC):c.750C>T (p.Thr250=)not provided [RCV002638152]likely benign5151664220151664220Humanname
156334426CV1954335single nucleotide variantNM_003118.4(SPARC):c.414C>G (p.Gly138=)not provided [RCV002580173]likely benign5151669701151669701Humanname
156004453CV1988058single nucleotide variantNM_003118.4(SPARC):c.705C>T (p.Phe235=)not provided [RCV002618599]likely benign5151666390151666390Humanname
156347851CV1989221single nucleotide variantNM_003118.4(SPARC):c.732C>T (p.Asp244=)not provided [RCV002631772]likely benign5151666363151666363Humanname
156010083CV1989681single nucleotide variantNM_003118.4(SPARC):c.660C>T (p.Phe220=)not provided [RCV002636175]likely benign5151666435151666435Humanname
155992761CV1990584single nucleotide variantNM_003118.4(SPARC):c.534G>C (p.Leu178=)not provided [RCV002618093]likely benign5151667518151667518Humanname
156276825CV2046452single nucleotide variantNM_003118.4(SPARC):c.754C>T (p.Leu252=)not provided [RCV002770244]likely benign5151664216151664216Humanname
156277435CV2046487single nucleotide variantNM_003118.4(SPARC):c.73C>A (p.Pro25Thr)not provided [RCV002770264]uncertain significance5151674659151674659Humanname
156011282CV2079789single nucleotide variantNM_003118.4(SPARC):c.579G>A (p.Lys193=)not provided [RCV002866121]likely benign5151667473151667473Humanname
156011410CV2124616single nucleotide variantNM_003118.4(SPARC):c.318C>T (p.Gly106=)not provided [RCV002948288]uncertain significance5151671585151671585Humanname
156164078CV2192024single nucleotide variantNM_003118.4(SPARC):c.522C>T (p.Val174=)not provided [RCV003040815]likely benign5151667530151667530Humanname
405086108CV2862182single nucleotide variantNM_003118.4(SPARC):c.645G>A (p.Leu215=)not provided [RCV003549577]likely benign5151666450151666450Humanname
405053612CV2893862single nucleotide variantNM_003118.4(SPARC):c.339C>T (p.Ser113=)not provided [RCV003579969]likely benign5151669776151669776Humanname
402468653CV2911552single nucleotide variantNM_003118.4(SPARC):c.750C>A (p.Thr250=)not provided [RCV003569877]likely benign5151664220151664220Humanname
405128011CV2949135single nucleotide variantNM_003118.4(SPARC):c.843C>T (p.Ile281=)not provided [RCV003672071]likely benign5151664127151664127Humanname
405146582CV3024015single nucleotide variantNM_003118.4(SPARC):c.837G>A (p.Lys279=)not provided [RCV003702977]likely benign5151664133151664133Humanname
405154888CV3027919single nucleotide variantNM_003118.4(SPARC):c.562C>T (p.Leu188=)not provided [RCV003703458]likely benign5151667490151667490Humanname
405196943CV3037716single nucleotide variantNM_003118.4(SPARC):c.600T>C (p.His200=)not provided [RCV003706955]likely benign5151666495151666495Humanname
405184212CV3040200single nucleotide variantNM_003118.4(SPARC):c.303C>T (p.Cys101=)not provided [RCV003705854]likely benign5151671600151671600Humanname
405092769CV3045495single nucleotide variantNM_003118.4(SPARC):c.483C>T (p.Thr161=)not provided [RCV003717937]likely benign5151667569151667569Humanname
402500777CV3170552single nucleotide variantNM_003118.4(SPARC):c.453C>T (p.Tyr151=)not provided [RCV003877925]likely benign5151667599151667599Humanname
405285442CV3212515single nucleotide variantNM_003118.4(SPARC):c.387G>A (p.Lys129=)SPARC-related disorder [RCV003959098]likely benign5151669728151669728Humanname , trait , alternate_id
405290449CV3219926single nucleotide variantNM_003118.4(SPARC):c.873C>T (p.Gly291=)SPARC-related disorder [RCV003962279]likely benign5151664097151664097Humanname , trait , alternate_id
408366988CV3511059single nucleotide variantNM_003118.4(SPARC):c.615C>T (p.Arg205=)SPARC-related disorder [RCV004757721]likely benign5151666480151666480Humanname , trait , alternate_id
597877673CV3744284single nucleotide variantNM_003118.4(SPARC):c.312C>T (p.Pro104=)not provided [RCV005069498]likely benign5151671591151671591Humanname
597871688CV3750056single nucleotide variantNM_003118.4(SPARC):c.528C>T (p.Val176=)not provided [RCV005068737]likely benign5151667524151667524Humanname
597934711CV3777096single nucleotide variantNM_003118.4(SPARC):c.888T>C (p.Asp296=)not provided [RCV005117255]likely benign5151663595151663595Humanname
597925478CV3778389single nucleotide variantNM_003118.4(SPARC):c.492C>T (p.Pro164=)not provided [RCV005130912]likely benign5151667560151667560Humanname
597905780CV3781023single nucleotide variantNM_003118.4(SPARC):c.378T>C (p.Phe126=)not provided [RCV005127921]likely benign5151669737151669737Humanname
597934440CV3793586single nucleotide variantNM_003118.4(SPARC):c.852T>C (p.Asp284=)not provided [RCV005132242]likely benign5151664118151664118Humanname
597928650CV3816167single nucleotide variantNM_003118.4(SPARC):c.897G>A (p.Lys299=)not provided [RCV005156748]likely benign5151663586151663586Humanname
597870194CV3858519single nucleotide variantNM_003118.4(SPARC):c.861C>A (p.Ala287=)not provided [RCV005197262]likely benign5151664109151664109Humanname
15192183CV721336single nucleotide variantNM_003118.4(SPARC):c.810C>T (p.Phe270=)not provided [RCV000888592]benign|likely benign5151664160151664160Humanname
15187836CV734973single nucleotide variantNM_003118.4(SPARC):c.891C>T (p.Ile297=)not provided [RCV000909199]pathogenic|likely benign5151663592151663592Humanname
15185768CV734974single nucleotide variantNM_003118.4(SPARC):c.861C>T (p.Ala287=)Osteogenesis imperfecta [RCV002279626]|SPARC-related disorder [RCV003902843]|not provided [RCV000908620]benign|likely benign5151664109151664109Human2name , trait , alternate_id
15187019CV734975single nucleotide variantNM_003118.4(SPARC):c.633C>T (p.His211=)SPARC-related disorder [RCV003958283]|not provided [RCV000908974]benign|likely benign5151666462151666462Human1name , trait , alternate_id
15180302CV734976single nucleotide variantNM_003118.4(SPARC):c.513C>G (p.Leu171=)SPARC-related disorder [RCV003910851]|not provided [RCV000907321]likely benign5151667539151667539Human1name , trait , alternate_id
15157898CV734977single nucleotide variantNM_003118.4(SPARC):c.483C>G (p.Thr161=)SPARC-related disorder [RCV004757317]|not provided [RCV000902624]likely benign5151667569151667569Human1name , trait , alternate_id
15175143CV734978single nucleotide variantNM_003118.4(SPARC):c.438C>T (p.Ile146=)not provided [RCV000906142]likely benign5151669677151669677Humanname
15152061CV749378single nucleotide variantNM_003118.4(SPARC):c.816C>A (p.Thr272=)SPARC-related disorder [RCV003970514]|not provided [RCV000923799]likely benign5151664154151664154Human1name , trait , alternate_id
15103944CV749379single nucleotide variantNM_003118.4(SPARC):c.702G>A (p.Gln234=)not provided [RCV000915260]likely benign5151666393151666393Humanname
15136610CV749380single nucleotide variantNM_003118.4(SPARC):c.357C>T (p.Phe119=)not provided [RCV000921038]likely benign5151669758151669758Humanname
15185914CV764978single nucleotide variantNM_003118.4(SPARC):c.489C>T (p.Phe163=)not provided [RCV000931198]likely benign5151667563151667563Humanname
151845526CV1359747single nucleotide variantNM_003118.4(SPARC):c.250G>A (p.Glu84Lys)not provided [RCV002032342]uncertain significance5151671653151671653Humanname
151788799CV1413089single nucleotide variantNM_003118.4(SPARC):c.142G>T (p.Val48Phe)not provided [RCV001989870]uncertain significance5151673195151673195Humanname
151747561CV1445810single nucleotide variantNM_003118.4(SPARC):c.212C>A (p.Pro71His)not provided [RCV002042910]uncertain significance5151671691151671691Humanname
151735641CV1465845single nucleotide variantNM_003118.4(SPARC):c.157G>A (p.Gly53Arg)Osteogenesis imperfecta [RCV002276908]|Osteogenesis imperfecta type 17 [RCV002506874]|not provided [RCV002041679]uncertain significance5151673180151673180Human2name
151879410CV1490848single nucleotide variantNM_003118.4(SPARC):c.280G>A (p.Val94Met)not provided [RCV001940806]uncertain significance5151671623151671623Humanname
152175445CV1614280single nucleotide variantNM_003118.4(SPARC):c.187G>A (p.Glu63Lys)Osteogenesis imperfecta [RCV002277039]|SPARC-related disorder [RCV003916340]|not provided [RCV002163580]|not specified [RCV004587318]likely benign|conflicting interpretations of pathogenicity|uncertain significance5151673150151673150Human2name , trait , alternate_id
156445856CV1952102single nucleotide variantNM_003118.4(SPARC):c.264C>G (p.Asn88Lys)not provided [RCV003116817]uncertain significance5151671639151671639Humanname
156088513CV2008871single nucleotide variantNM_003118.4(SPARC):c.203C>T (p.Ala68Val)not provided [RCV002706228]uncertain significance5151673134151673134Humanname
156321612CV2022112single nucleotide variantNM_003118.4(SPARC):c.271C>T (p.Pro91Ser)not provided [RCV002717128]uncertain significance5151671632151671632Humanname
156092030CV2142938single nucleotide variantNM_003118.4(SPARC):c.208A>G (p.Asn70Asp)not provided [RCV002979642]uncertain significance5151673129151673129Humanname
401876896CV2767755single nucleotide variantNM_003118.4(SPARC):c.238G>A (p.Gly80Ser)Inborn genetic diseases [RCV003348231]uncertain significance5151671665151671665Human1name
15193584CV721337single nucleotide variantNM_003118.4(SPARC):c.209A>G (p.Asn70Ser)Inborn genetic diseases [RCV004962911]|SPARC-related disorder [RCV003957915]|not provided [RCV000888987]likely benign|uncertain significance5151671694151671694Human2name , trait , alternate_id
151766621CV1341238single nucleotide variantNM_003118.4(SPARC):c.706G>A (p.Gly236Ser)not provided [RCV001874034]uncertain significance5151666389151666389Humanname
151785416CV1342717single nucleotide variantNM_003118.4(SPARC):c.802C>T (p.Arg268Cys)not provided [RCV002010131]uncertain significance5151664168151664168Humanname
151822472CV1355298single nucleotide variantNM_003118.4(SPARC):c.604A>T (p.Asn202Tyr)not provided [RCV001934278]uncertain significance5151666491151666491Humanname
151753739CV1363956single nucleotide variantNM_003118.4(SPARC):c.751G>A (p.Glu251Lys)Inborn genetic diseases [RCV002548000]|Osteogenesis imperfecta [RCV002276913]|not provided [RCV001872519]uncertain significance5151664219151664219Human2name
151744442CV1368166single nucleotide variantNM_003118.4(SPARC):c.803G>A (p.Arg268His)not provided [RCV001871354]uncertain significance5151664167151664167Humanname
151752192CV1370509single nucleotide variantNM_003118.4(SPARC):c.652C>T (p.Arg218Trp)Inborn genetic diseases [RCV004039692]|not provided [RCV001894447]uncertain significance5151666443151666443Human1name
151821523CV1378584single nucleotide variantNM_003118.4(SPARC):c.826G>A (p.Asp276Asn)Inborn genetic diseases [RCV004968319]|not provided [RCV002029937]uncertain significance5151664144151664144Human1name
151736928CV1391590single nucleotide variantNM_003118.4(SPARC):c.778A>G (p.Ile260Val)not provided [RCV002041818]uncertain significance5151664192151664192Humanname
151881805CV1413898single nucleotide variantNM_003118.4(SPARC):c.520G>A (p.Val174Ile)not provided [RCV002020291]uncertain significance5151667532151667532Humanname
151721300CV1421004single nucleotide variantNM_003118.4(SPARC):c.484G>A (p.Glu162Lys)not provided [RCV002040120]uncertain significance5151667568151667568Humanname
151722255CV1421964single nucleotide variantNM_003118.4(SPARC):c.358G>A (p.Asp120Asn)not provided [RCV001909910]uncertain significance5151669757151669757Humanname
151825876CV1442875single nucleotide variantNM_003118.4(SPARC):c.811G>A (p.Glu271Lys)not provided [RCV002013829]uncertain significance5151664159151664159Humanname
156199184CV1886174single nucleotide variantNM_003118.4(SPARC):c.822C>G (p.Asp274Glu)Inborn genetic diseases [RCV004071813]|not provided [RCV003084152]uncertain significance5151664148151664148Human1name
156367923CV1909506single nucleotide variantNM_003118.4(SPARC):c.419A>G (p.Lys140Arg)Inborn genetic diseases [RCV003294535]|not provided [RCV002602950]uncertain significance5151669696151669696Human1name
155945107CV1911238single nucleotide variantNM_003118.4(SPARC):c.571A>C (p.Lys191Gln)not provided [RCV002615884]uncertain significance5151667481151667481Humanname
156377753CV1956979single nucleotide variantNM_003118.4(SPARC):c.614G>T (p.Arg205Leu)not provided [RCV002582942]|not specified [RCV005239451]uncertain significance5151666481151666481Humanname
156351382CV1965460single nucleotide variantNM_003118.4(SPARC):c.314T>C (p.Ile105Thr)Inborn genetic diseases [RCV003348858]|not provided [RCV002581085]uncertain significance5151671589151671589Human1name
155972264CV1978514single nucleotide variantNM_003118.4(SPARC):c.343G>T (p.Asp115Tyr)Inborn genetic diseases [RCV002625797]|not provided [RCV002617235]uncertain significance5151669772151669772Human1name
156007325CV1989427single nucleotide variantNM_003118.4(SPARC):c.454A>G (p.Ile152Val)Inborn genetic diseases [RCV004966005]|not provided [RCV002636044]uncertain significance5151667598151667598Human1name
156161712CV2009558single nucleotide variantNM_003118.4(SPARC):c.901C>G (p.Leu301Val)not provided [RCV002710196]uncertain significance5151663582151663582Humanname
156065112CV2022248single nucleotide variantNM_003118.4(SPARC):c.766C>T (p.Arg256Cys)not provided [RCV002760142]uncertain significance5151664204151664204Humanname
156140197CV2040753single nucleotide variantNM_003118.4(SPARC):c.844G>A (p.Ala282Thr)not provided [RCV002786495]uncertain significance5151664126151664126Humanname
156290720CV2060286single nucleotide variantNM_003118.4(SPARC):c.781C>G (p.Pro261Ala)not provided [RCV002807335]uncertain significance5151664189151664189Humanname
155942750CV2072295single nucleotide variantNM_003118.4(SPARC):c.689C>T (p.Pro230Leu)not provided [RCV002861886]uncertain significance5151666406151666406Humanname
156128289CV2072853single nucleotide variantNM_003118.4(SPARC):c.542G>T (p.Arg181Met)not provided [RCV002825571]uncertain significance5151667510151667510Humanname
156236256CV2081808single nucleotide variantNM_003118.4(SPARC):c.400G>A (p.Gly134Ser)not provided [RCV002876431]uncertain significance5151669715151669715Humanname
156110688CV2092875single nucleotide variantNM_003118.4(SPARC):c.782C>G (p.Pro261Arg)not provided [RCV002913764]uncertain significance5151664188151664188Humanname
156270490CV2102944single nucleotide variantNM_003118.4(SPARC):c.583C>T (p.Arg195Trp)not provided [RCV002895906]uncertain significance5151667469151667469Humanname
155972189CV2135826single nucleotide variantNM_003118.4(SPARC):c.460C>G (p.Pro154Ala)Inborn genetic diseases [RCV003170817]|not provided [RCV002995680]uncertain significance5151667592151667592Human1name
156174084CV2144640single nucleotide variantNM_003118.4(SPARC):c.428T>C (p.Leu143Pro)not provided [RCV003005486]uncertain significance5151669687151669687Humanname
155991017CV2160824single nucleotide variantNM_003118.4(SPARC):c.401G>T (p.Gly134Val)not provided [RCV003034322]uncertain significance5151669714151669714Humanname
156174525CV2188390single nucleotide variantNM_003118.4(SPARC):c.487T>A (p.Phe163Ile)not provided [RCV003041137]uncertain significance5151667565151667565Humanname
156380664CV2218880single nucleotide variantNM_003118.4(SPARC):c.307G>T (p.Ala103Ser)Inborn genetic diseases [RCV002678636]uncertain significance5151671596151671596Human1name
155978879CV2266566single nucleotide variantNM_003118.4(SPARC):c.323T>A (p.Phe108Tyr)Inborn genetic diseases [RCV002818385]uncertain significance5151671580151671580Human1name
156200303CV2392369single nucleotide variantNM_003118.4(SPARC):c.761C>T (p.Pro254Leu)Inborn genetic diseases [RCV002789728]uncertain significance5151664209151664209Human1name
402479538CV2853973single nucleotide variantNM_003118.4(SPARC):c.503G>A (p.Arg168Gln)not provided [RCV003543867]uncertain significance5151667549151667549Humanname
405184627CV2920473single nucleotide variantNM_003118.4(SPARC):c.305C>A (p.Pro102Gln)not provided [RCV003564336]uncertain significance5151671598151671598Humanname
405092743CV2947096single nucleotide variantNM_003118.4(SPARC):c.899A>T (p.Asp300Val)not provided [RCV003665401]uncertain significance5151663584151663584Humanname
405171266CV2951276single nucleotide variantNM_003118.4(SPARC):c.499A>C (p.Met167Leu)not provided [RCV003675376]uncertain significance5151667553151667553Humanname
405135164CV3018608single nucleotide variantNM_003118.4(SPARC):c.490C>A (p.Pro164Thr)not provided [RCV003702039]uncertain significance5151667562151667562Humanname
405788489CV3330029single nucleotide variantNM_003118.4(SPARC):c.601G>A (p.Glu201Lys)Inborn genetic diseases [RCV004460056]uncertain significance5151666494151666494Human1name
407510557CV3481408single nucleotide variantNM_003118.4(SPARC):c.536A>T (p.Tyr179Phe)Inborn genetic diseases [RCV004672774]uncertain significance5151667516151667516Human1name
596931673CV3538787single nucleotide variantNM_003118.4(SPARC):c.723C>A (p.His241Gln)not provided [RCV004792913]uncertain significance5151666372151666372Humanname
596931676CV3538788single nucleotide variantNM_003118.4(SPARC):c.437T>G (p.Ile146Ser)not provided [RCV004792914]uncertain significance5151669678151669678Humanname
596945156CV3543763single nucleotide variantNM_003118.4(SPARC):c.695A>G (p.His232Arg)not provided [RCV004801885]uncertain significance5151666400151666400Humanname
12740649CV359045single nucleotide variantNM_003118.4(SPARC):c.497G>A (p.Arg166His)Osteogenesis imperfecta type 17 [RCV000412625]pathogenic5151667555151667555Human1name
12740626CV359046single nucleotide variantNM_003118.4(SPARC):c.787G>A (p.Glu263Lys)Osteogenesis imperfecta type 17 [RCV000412523]pathogenic5151664183151664183Human1name
597730740CV3600784single nucleotide variantNM_003118.4(SPARC):c.649G>A (p.Ala217Thr)Inborn genetic diseases [RCV004963961]uncertain significance5151666446151666446Human1name
597730754CV3600787single nucleotide variantNM_003118.4(SPARC):c.633C>G (p.His211Gln)Inborn genetic diseases [RCV004963963]uncertain significance5151666462151666462Human1name
597833106CV3734878single nucleotide variantNM_003118.4(SPARC):c.502C>T (p.Arg168Trp)not provided [RCV005054611]uncertain significance5151667550151667550Humanname
597860770CV3748709single nucleotide variantNM_003118.4(SPARC):c.841A>C (p.Ile281Leu)not provided [RCV005067341]uncertain significance5151664129151664129Humanname
597956879CV3754674single nucleotide variantNM_003118.4(SPARC):c.767G>A (p.Arg256His)not provided [RCV005080524]uncertain significance5151664203151664203Humanname
597933832CV3844728single nucleotide variantNM_003118.4(SPARC):c.734G>A (p.Gly245Glu)not provided [RCV005186234]uncertain significance5151666361151666361Humanname
598248662CV3922634single nucleotide variantNM_003118.4(SPARC):c.661G>A (p.Glu221Lys)Inborn genetic diseases [RCV005277475]uncertain significance5151666434151666434Human1name
13837795CV589088single nucleotide variantNM_003118.4(SPARC):c.657C>A (p.Asp219Glu)not provided [RCV000734316]uncertain significance5151666438151666438Humanname
15145318CV709766single nucleotide variantNM_003118.4(SPARC):c.733G>A (p.Gly245Arg)Inborn genetic diseases [RCV002548320]|Osteogenesis imperfecta [RCV002279674]|SPARC-related disorder [RCV003928424]|not provided [RCV000966976]likely benign|uncertain significance5151666362151666362Human7name , trait , alternate_id
151812569CV1371610deletionNM_003118.4(SPARC):c.155_157del (p.Val52del)not provided [RCV001933353]uncertain significance5151673180151673182Humanname
151744830CV1401648microsatelliteNM_003118.4(SPARC):c.553AAC[1] (p.Asn186del)not provided [RCV001947478]uncertain significance5151667494151667496Humanname
156379080CV2189408microsatelliteNM_003118.4(SPARC):c.663GAA[1] (p.Lys222del)not provided [RCV003050346]uncertain significance5151666427151666429Humanname
597730748CV3600786deletionNM_003118.4(SPARC):c.373_383del (p.Phe125fs)Inborn genetic diseases [RCV004963962]pathogenic5151669732151669742Human1name
401933590CV2802104single nucleotide variantNM_004684.6(SPARCL1):c.971C>T (p.Pro324Leu)SPARCL1-related disorder [RCV003410464]|not specified [RCV005281390]uncertain significance48749382987493829Humanname , trait , alternate_id
401931520CV2803663single nucleotide variantNM_004684.6(SPARCL1):c.625G>T (p.Gly209Cys)SPARCL1-related disorder [RCV003408343]uncertain significance48749417587494175Humanname , trait , alternate_id
401901786CV2804471microsatelliteNM_004684.6(SPARCL1):c.1025ATG[2] (p.Asp344del)SPARCL1-related disorder [RCV003393121]uncertain significance48749376787493769Humanname , trait , alternate_id
156209363CV2250207single nucleotide variantNM_004684.6(SPARCL1):c.295G>A (p.Asp99Asn)not specified [RCV004117000]uncertain significance48749450587494505Humanname
405788514CV3330034single nucleotide variantNM_004684.6(SPARCL1):c.193C>T (p.His65Tyr)not specified [RCV004460061]uncertain significance48749498987494989Humanname
407510560CV3481410single nucleotide variantNM_004684.6(SPARCL1):c.131G>A (p.Ser44Asn)not specified [RCV004672775]likely benign48749505187495051Humanname
407525467CV3481413single nucleotide variantNM_004684.6(SPARCL1):c.286G>A (p.Gly96Arg)not specified [RCV004679271]uncertain significance48749451487494514Humanname
597757377CV3600795single nucleotide variantNM_004684.6(SPARCL1):c.160A>G (p.Lys54Glu)not specified [RCV004868613]uncertain significance48749502287495022Humanname
598238753CV3922636single nucleotide variantNM_004684.6(SPARCL1):c.101C>T (p.Thr34Met)not specified [RCV005275888]uncertain significance48749508187495081Humanname
156340430CV2229485single nucleotide variantNM_004684.6(SPARCL1):c.325G>A (p.Val109Met)not specified [RCV004101246]uncertain significance48749447587494475Humanname
156003070CV2293421single nucleotide variantNM_004684.6(SPARCL1):c.891G>T (p.Glu297Asp)not specified [RCV004150884]uncertain significance48749390987493909Humanname
156003084CV2293422single nucleotide variantNM_004684.6(SPARCL1):c.917G>C (p.Ser306Thr)not specified [RCV004150885]uncertain significance48749388387493883Humanname
156035825CV2338977single nucleotide variantNM_004684.6(SPARCL1):c.536G>C (p.Ser179Thr)not specified [RCV004184564]uncertain significance48749426487494264Humanname
156188919CV2342323single nucleotide variantNM_004684.6(SPARCL1):c.982G>A (p.Gly328Ser)not specified [RCV004191890]uncertain significance48749381887493818Humanname
156347406CV2349611single nucleotide variantNM_004684.6(SPARCL1):c.850G>A (p.Val284Ile)not specified [RCV004204034]likely benign48749395087493950Humanname
155908582CV2354685single nucleotide variantNM_004684.6(SPARCL1):c.515A>G (p.His172Arg)not specified [RCV004202640]uncertain significance48749428587494285Humanname
329358385CV2425239single nucleotide variantNM_004684.6(SPARCL1):c.481G>A (p.Glu161Lys)not specified [RCV004250911]uncertain significance48749431987494319Humanname
405788519CV3330035single nucleotide variantNM_004684.6(SPARCL1):c.298C>A (p.Gln100Lys)not specified [RCV004460062]uncertain significance48749450287494502Humanname
405788524CV3330036single nucleotide variantNM_004684.6(SPARCL1):c.568A>G (p.Asn190Asp)not specified [RCV004460063]uncertain significance48749423287494232Humanname
405788529CV3330037single nucleotide variantNM_004684.6(SPARCL1):c.590T>C (p.Ile197Thr)not specified [RCV004460064]uncertain significance48749421087494210Humanname
405788533CV3330038single nucleotide variantNM_004684.6(SPARCL1):c.692G>A (p.Ser231Asn)not specified [RCV004460065]uncertain significance48749410887494108Humanname
405788537CV3330039single nucleotide variantNM_004684.6(SPARCL1):c.815C>A (p.Ser272Tyr)not specified [RCV004460066]uncertain significance48749398587493985Humanname
407471838CV3416494single nucleotide variantNM_004684.6(SPARCL1):c.334G>A (p.Glu112Lys)Stromal corneal dystrophy [RCV004674055]pathogenic48749446687494466Human1name
407510562CV3481412single nucleotide variantNM_004684.6(SPARCL1):c.992C>T (p.Thr331Met)not specified [RCV004672776]likely benign48749380887493808Humanname
597757361CV3600790single nucleotide variantNM_004684.6(SPARCL1):c.752C>T (p.Thr251Ile)not specified [RCV004868610]uncertain significance48749404887494048Humanname
597742069CV3600792single nucleotide variantNM_004684.6(SPARCL1):c.967G>A (p.Glu323Lys)not specified [RCV004865002]uncertain significance48749383387493833Humanname
597757372CV3600793single nucleotide variantNM_004684.6(SPARCL1):c.445A>C (p.Thr149Pro)not specified [RCV004868612]uncertain significance48749435587494355Humanname
597742074CV3600794single nucleotide variantNM_004684.6(SPARCL1):c.964A>G (p.Met322Val)not specified [RCV004865003]likely benign48749383687493836Humanname
598248697CV3922640single nucleotide variantNM_004684.6(SPARCL1):c.305A>C (p.Asp102Ala)not specified [RCV005277480]uncertain significance48749449587494495Humanname
598238759CV3922641single nucleotide variantNM_004684.6(SPARCL1):c.394A>G (p.Lys132Glu)not specified [RCV005275889]likely benign48749440687494406Humanname
598248721CV3922644single nucleotide variantNM_004684.6(SPARCL1):c.560A>G (p.Asp187Gly)not specified [RCV005277483]uncertain significance48749424087494240Humanname
155966757CV2216745single nucleotide variantNM_004684.6(SPARCL1):c.1462A>T (p.Thr488Ser)not specified [RCV004083191]uncertain significance48749034287490342Humanname
156168547CV2270570single nucleotide variantNM_004684.6(SPARCL1):c.1427A>G (p.Asn476Ser)not specified [RCV004137519]uncertain significance48749037787490377Humanname
155991797CV2281140single nucleotide variantNM_004684.6(SPARCL1):c.1627T>A (p.Ser543Thr)not specified [RCV004147401]uncertain significance48748246587482465Humanname
156350612CV2316238single nucleotide variantNM_004684.6(SPARCL1):c.1045G>A (p.Gly349Ser)not specified [RCV004174271]uncertain significance48749375587493755Humanname
329375241CV2431428single nucleotide variantNM_004684.6(SPARCL1):c.1205G>C (p.Gly402Ala)not specified [RCV004254593]uncertain significance48749359587493595Humanname
329386856CV2452609single nucleotide variantNM_004684.6(SPARCL1):c.1469G>A (p.Cys490Tyr)not specified [RCV004275185]uncertain significance48749033587490335Humanname
329356919CV2460614single nucleotide variantNM_004684.6(SPARCL1):c.1696A>G (p.Arg566Gly)not specified [RCV004268882]uncertain significance48748049387480493Humanname
329363956CV2469556single nucleotide variantNM_004684.6(SPARCL1):c.1052A>C (p.Asp351Ala)not specified [RCV004282994]uncertain significance48749374887493748Humanname
401735707CV2672721single nucleotide variantNM_004684.6(SPARCL1):c.1198G>C (p.Glu400Gln)not specified [RCV004287734]uncertain significance48749360287493602Humanname
401735805CV2702883single nucleotide variantNM_004684.6(SPARCL1):c.1130T>C (p.Ile377Thr)not specified [RCV004321222]uncertain significance48749367087493670Humanname
401770182CV2719078single nucleotide variantNM_004684.6(SPARCL1):c.1534A>G (p.Ile512Val)not specified [RCV004322653]uncertain significance48748255887482558Humanname
401760978CV2726602single nucleotide variantNM_004684.6(SPARCL1):c.1453C>A (p.Leu485Ile)not specified [RCV004329089]uncertain significance48749035187490351Humanname
405788495CV3330030single nucleotide variantNM_004684.6(SPARCL1):c.1205G>A (p.Gly402Glu)not specified [RCV004460057]uncertain significance48749359587493595Humanname
405788500CV3330031single nucleotide variantNM_004684.6(SPARCL1):c.1576C>T (p.Arg526Trp)not specified [RCV004460058]uncertain significance48748251687482516Humanname
405788505CV3330032single nucleotide variantNM_004684.6(SPARCL1):c.1804C>T (p.His602Tyr)not specified [RCV004460059]uncertain significance48748038587480385Humanname
407525462CV3481409single nucleotide variantNM_004684.6(SPARCL1):c.1882A>G (p.Thr628Ala)not specified [RCV004679269]uncertain significance48747951487479514Humanname
407525464CV3481411single nucleotide variantNM_004684.6(SPARCL1):c.1868T>C (p.Met623Thr)not specified [RCV004679270]uncertain significance48747952887479528Humanname
597742064CV3600788single nucleotide variantNM_004684.6(SPARCL1):c.1024G>A (p.Asp342Asn)not specified [RCV004865001]uncertain significance48749377687493776Humanname
597757356CV3600789single nucleotide variantNM_004684.6(SPARCL1):c.1640G>T (p.Gly547Val)not specified [RCV004868609]uncertain significance48748245287482452Humanname
597757367CV3600791single nucleotide variantNM_004684.6(SPARCL1):c.1727T>C (p.Leu576Pro)not specified [RCV004868611]uncertain significance48748046287480462Humanname
597757381CV3600796single nucleotide variantNM_004684.6(SPARCL1):c.1310A>G (p.Gln437Arg)not specified [RCV004868614]uncertain significance48749086087490860Humanname
598248668CV3922635single nucleotide variantNM_004684.6(SPARCL1):c.1861G>T (p.Val621Leu)not specified [RCV005277476]uncertain significance48747953587479535Humanname
598248675CV3922637single nucleotide variantNM_004684.6(SPARCL1):c.1562T>C (p.Ile521Thr)not specified [RCV005277477]likely benign48748253087482530Humanname
598248680CV3922638single nucleotide variantNM_004684.6(SPARCL1):c.1850G>A (p.Arg617Gln)not specified [RCV005277478]uncertain significance48747954687479546Humanname
598248689CV3922639single nucleotide variantNM_004684.6(SPARCL1):c.1466A>G (p.Lys489Arg)not specified [RCV005277479]uncertain significance48749033887490338Humanname
598248705CV3922642single nucleotide variantNM_004684.6(SPARCL1):c.1651G>A (p.Glu551Lys)not specified [RCV005277481]uncertain significance48748244187482441Humanname
598248713CV3922643single nucleotide variantNM_004684.6(SPARCL1):c.1808C>T (p.Pro603Leu)not specified [RCV005277482]uncertain significance48748038187480381Humanname
598248730CV3922645single nucleotide variantNM_004684.6(SPARCL1):c.1813G>A (p.Asp605Asn)not specified [RCV005277484]uncertain significance48748037687480376Humanname
598248737CV3922646single nucleotide variantNM_004684.6(SPARCL1):c.1399C>T (p.Pro467Ser)not specified [RCV005277485]uncertain significance48749077187490771Humanname
8631315CV86476single nucleotide variantNM_001128310.2(SPARCL1):c.1736G>A (p.Arg579Lys)Malignant melanoma [RCV000066567]not provided48748045387480453Humanname
8631316CV86477single nucleotide variantNM_001128310.2(SPARCL1):c.1570C>T (p.Pro524Ser)Malignant melanoma [RCV000066568]not provided48748252287482522Humanname