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Pathways
Variants search result for All species
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84 records found for search term Retsat
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15150502CV708387single nucleotide variantNM_017750.4(RETSAT):c.45C>T (p.Ala15=)not provided [RCV000967957]benign28535446385354463Humanname
405695294CV3315962single nucleotide variantNM_017750.4(RETSAT):c.82A>G (p.Ser28Gly)not specified [RCV004446101]uncertain significance28535442685354426Humanname
597765447CV3593542single nucleotide variantNM_017750.4(RETSAT):c.52T>A (p.Cys18Ser)not specified [RCV004850040]uncertain significance28535445685354456Humanname
15100111CV719983single nucleotide variantNM_017750.4(RETSAT):c.780C>T (p.Ser260=)not provided [RCV000892051]benign28535005985350059Humanname
156375846CV2210340single nucleotide variantNM_017750.4(RETSAT):c.170A>G (p.Gln57Arg)not specified [RCV004089495]uncertain significance28535433885354338Humanname
156094193CV2300284single nucleotide variantNM_017750.4(RETSAT):c.166A>C (p.Lys56Gln)not specified [RCV004153241]uncertain significance28535434285354342Humanname
156067168CV2356627single nucleotide variantNM_017750.4(RETSAT):c.292C>A (p.Gln98Lys)not specified [RCV004201990]uncertain significance28535174385351743Humanname
401777906CV2718383single nucleotide variantNM_017750.4(RETSAT):c.266C>T (p.Ala89Val)not specified [RCV004318211]uncertain significance28535176985351769Humanname
401878866CV2754857single nucleotide variantNM_017750.4(RETSAT):c.211G>A (p.Val71Met)not specified [RCV004341332]uncertain significance28535182485351824Humanname
401885398CV2762915single nucleotide variantNM_017750.4(RETSAT):c.218T>C (p.Ile73Thr)not specified [RCV004342666]uncertain significance28535181785351817Humanname
401912183CV2812059deletionNM_017750.4(RETSAT):c.402del (p.Phe134fs)not provided [RCV003427085]likely benign28535097585350975Humanname
405695268CV3315957single nucleotide variantNM_017750.4(RETSAT):c.200A>C (p.Lys67Thr)not specified [RCV004446096]uncertain significance28535183585351835Humanname
597731558CV3593537single nucleotide variantNM_017750.4(RETSAT):c.251C>A (p.Ala84Glu)not specified [RCV004863144]uncertain significance28535178485351784Humanname
597731590CV3593541single nucleotide variantNM_017750.4(RETSAT):c.194C>T (p.Pro65Leu)not specified [RCV004863147]uncertain significance28535184185351841Humanname
15175641CV697683single nucleotide variantNM_017750.4(RETSAT):c.1810C>A (p.Arg604=)not provided [RCV000950637]benign28534326585343265Humanname
15156066CV697684single nucleotide variantNM_017750.4(RETSAT):c.1296G>A (p.Ala432=)not provided [RCV000946621]benign28534430985344309Humanname
156225461CV2203053single nucleotide variantNM_017750.4(RETSAT):c.404T>A (p.Ile135Asn)not specified [RCV004069304]uncertain significance28535097385350973Humanname
155935359CV2225564single nucleotide variantNM_017750.4(RETSAT):c.667G>C (p.Asp223His)not specified [RCV004100943]uncertain significance28535017285350172Humanname
155921222CV2240495single nucleotide variantNM_017750.4(RETSAT):c.947C>G (p.Thr316Arg)not specified [RCV004119161]uncertain significance28534943485349434Humanname
155997875CV2260916single nucleotide variantNM_017750.4(RETSAT):c.569T>A (p.Ile190Asn)not specified [RCV004125805]uncertain significance28535080885350808Humanname
156177978CV2374561single nucleotide variantNM_017750.4(RETSAT):c.320A>G (p.His107Arg)not specified [RCV004225190]uncertain significance28535171585351715Humanname
329381619CV2467339single nucleotide variantNM_017750.4(RETSAT):c.392T>C (p.Ile131Thr)not specified [RCV004285131]uncertain significance28535098585350985Humanname
401724419CV2677873single nucleotide variantNM_017750.4(RETSAT):c.937G>A (p.Ala313Thr)not specified [RCV004294366]uncertain significance28534944485349444Humanname
401899837CV2758937single nucleotide variantNM_017750.4(RETSAT):c.677G>A (p.Gly226Glu)not specified [RCV004340014]uncertain significance28535016285350162Humanname
401889124CV2761833single nucleotide variantNM_017750.4(RETSAT):c.808C>G (p.Pro270Ala)not specified [RCV004339476]uncertain significance28534957385349573Humanname
405695277CV3315959single nucleotide variantNM_017750.4(RETSAT):c.368T>C (p.Ile123Thr)not specified [RCV004446098]uncertain significance28535100985351009Humanname
405695283CV3315960single nucleotide variantNM_017750.4(RETSAT):c.689G>A (p.Arg230His)not specified [RCV004446099]uncertain significance28535015085350150Humanname
405695289CV3315961single nucleotide variantNM_017750.4(RETSAT):c.803T>A (p.Val268Asp)not specified [RCV004446100]uncertain significance28534957885349578Humanname
405695299CV3315963single nucleotide variantNM_017750.4(RETSAT):c.932G>A (p.Gly311Glu)not specified [RCV004446102]uncertain significance28534944985349449Humanname
407459428CV3465496single nucleotide variantNM_017750.4(RETSAT):c.374G>A (p.Arg125His)not specified [RCV004658222]uncertain significance28535100385351003Humanname
407459433CV3465497single nucleotide variantNM_017750.4(RETSAT):c.507G>A (p.Met169Ile)not specified [RCV004658223]uncertain significance28535087085350870Humanname
597765428CV3593532single nucleotide variantNM_017750.4(RETSAT):c.898G>A (p.Ala300Thr)not specified [RCV004850035]uncertain significance28534948385349483Humanname
597765432CV3593534single nucleotide variantNM_017750.4(RETSAT):c.577A>G (p.Lys193Glu)not specified [RCV004850036]uncertain significance28535080085350800Humanname
597765440CV3593536single nucleotide variantNM_017750.4(RETSAT):c.814C>T (p.His272Tyr)not specified [RCV004850038]uncertain significance28534956785349567Humanname
597765443CV3593539single nucleotide variantNM_017750.4(RETSAT):c.572T>C (p.Ile191Thr)not specified [RCV004850039]uncertain significance28535080585350805Humanname
597731578CV3593540single nucleotide variantNM_017750.4(RETSAT):c.491G>A (p.Arg164Gln)not specified [RCV004863146]uncertain significance28535088685350886Humanname
597765458CV3593547single nucleotide variantNM_017750.4(RETSAT):c.431T>G (p.Leu144Arg)not specified [RCV004850043]uncertain significance28535094685350946Humanname
597765462CV3593548single nucleotide variantNM_017750.4(RETSAT):c.715A>C (p.Thr239Pro)not specified [RCV004850044]uncertain significance28535012485350124Humanname
597731635CV3593553single nucleotide variantNM_017750.4(RETSAT):c.884G>A (p.Gly295Asp)not specified [RCV004863151]uncertain significance28534949785349497Humanname
597731644CV3593554single nucleotide variantNM_017750.4(RETSAT):c.385G>C (p.Gly129Arg)not specified [RCV004863152]uncertain significance28535099285350992Humanname
598216092CV3905632single nucleotide variantNM_017750.4(RETSAT):c.311G>T (p.Gly104Val)not specified [RCV005271805]uncertain significance28535172485351724Humanname
8630474CV85629single nucleotide variantNM_017750.3(RETSAT):c.512G>A (p.Ser171Asn)Malignant melanoma [RCV000065712]not provided28535086585350865Humanname
155925360CV2211818single nucleotide variantNM_017750.4(RETSAT):c.1343C>T (p.Pro448Leu)not specified [RCV004086645]uncertain significance28534426285344262Humanname
155977058CV2231771single nucleotide variantNM_017750.4(RETSAT):c.1187G>A (p.Gly396Asp)not specified [RCV004098585]uncertain significance28534466385344663Humanname
156245501CV2267498single nucleotide variantNM_017750.4(RETSAT):c.1037A>G (p.Tyr346Cys)not specified [RCV004135922]uncertain significance28534605585346055Humanname
156249822CV2314191single nucleotide variantNM_017750.4(RETSAT):c.1817A>C (p.Gln606Pro)not specified [RCV004166266]uncertain significance28534325885343258Humanname
156335514CV2333538single nucleotide variantNM_017750.4(RETSAT):c.1768C>T (p.Arg590Trp)not specified [RCV004190225]uncertain significance28534330785343307Humanname
156286144CV2334909single nucleotide variantNM_017750.4(RETSAT):c.1658G>A (p.Arg553Lys)not specified [RCV004182015]uncertain significance28534367485343674Humanname
156286155CV2334910single nucleotide variantNM_017750.4(RETSAT):c.1675C>A (p.Pro559Thr)not specified [RCV004182016]uncertain significance28534365785343657Humanname
156275871CV2351877single nucleotide variantNM_017750.4(RETSAT):c.1562T>C (p.Leu521Pro)not specified [RCV004198020]uncertain significance28534377085343770Humanname
156068645CV2355687single nucleotide variantNM_017750.4(RETSAT):c.1148C>A (p.Pro383His)not specified [RCV004199049]uncertain significance28534470285344702Humanname
329368076CV2427682single nucleotide variantNM_017750.4(RETSAT):c.1445G>A (p.Arg482Gln)not specified [RCV004250304]uncertain significance28534408785344087Humanname
329390938CV2437451single nucleotide variantNM_017750.4(RETSAT):c.1628G>A (p.Arg543His)not specified [RCV004256316]uncertain significance28534370485343704Humanname
329396154CV2451924single nucleotide variantNM_017750.4(RETSAT):c.1699G>T (p.Asp567Tyr)not specified [RCV004276594]uncertain significance28534337685343376Humanname
329386740CV2452478single nucleotide variantNM_017750.4(RETSAT):c.1362C>A (p.Phe454Leu)not specified [RCV004273080]uncertain significance28534424385344243Humanname
401754028CV2685139single nucleotide variantNM_017750.4(RETSAT):c.1003A>G (p.Ser335Gly)not specified [RCV004289705]uncertain significance28534608985346089Humanname
401721336CV2709920single nucleotide variantNM_017750.4(RETSAT):c.1720G>C (p.Val574Leu)not specified [RCV004314995]uncertain significance28534335585343355Humanname
401732064CV2712278single nucleotide variantNM_017750.4(RETSAT):c.1700A>G (p.Asp567Gly)not specified [RCV004313774]uncertain significance28534337585343375Humanname
401759234CV2712489single nucleotide variantNM_017750.4(RETSAT):c.1810C>T (p.Arg604Trp)not specified [RCV004313949]uncertain significance28534326585343265Humanname
401753637CV2722535single nucleotide variantNM_017750.4(RETSAT):c.1633C>T (p.His545Tyr)not specified [RCV004322917]uncertain significance28534369985343699Humanname
405695227CV3315949single nucleotide variantNM_017750.4(RETSAT):c.1060G>A (p.Ala354Thr)not specified [RCV004446088]uncertain significance28534603285346032Humanname
405695232CV3315950single nucleotide variantNM_017750.4(RETSAT):c.1101C>G (p.Asn367Lys)not specified [RCV004446089]uncertain significance28534599185345991Humanname
405695238CV3315951single nucleotide variantNM_017750.4(RETSAT):c.1139C>T (p.Thr380Met)not specified [RCV004446090]likely benign28534471185344711Humanname
405695241CV3315952single nucleotide variantNM_017750.4(RETSAT):c.1184G>A (p.Arg395Gln)not specified [RCV004446091]likely benign28534466685344666Humanname
405695247CV3315953single nucleotide variantNM_017750.4(RETSAT):c.1324T>C (p.Phe442Leu)not specified [RCV004446092]uncertain significance28534428185344281Humanname
405695253CV3315954single nucleotide variantNM_017750.4(RETSAT):c.1414G>C (p.Glu472Gln)not specified [RCV004446093]uncertain significance28534411885344118Humanname
405695259CV3315955single nucleotide variantNM_017750.4(RETSAT):c.1490C>T (p.Ser497Phe)not specified [RCV004446094]uncertain significance28534404285344042Humanname
405695264CV3315956single nucleotide variantNM_017750.4(RETSAT):c.1813G>A (p.Ala605Thr)not specified [RCV004446095]uncertain significance28534326285343262Humanname
407459436CV3465498single nucleotide variantNM_017750.4(RETSAT):c.1106G>A (p.Arg369His)not specified [RCV004658224]uncertain significance28534598685345986Humanname
407459439CV3465499single nucleotide variantNM_017750.4(RETSAT):c.1732C>A (p.Gln578Lys)not specified [RCV004658225]uncertain significance28534334385343343Humanname
597765436CV3593535single nucleotide variantNM_017750.4(RETSAT):c.1358G>A (p.Arg453Gln)not specified [RCV004850037]uncertain significance28534424785344247Humanname
597731568CV3593538single nucleotide variantNM_017750.4(RETSAT):c.1811G>A (p.Arg604Gln)not specified [RCV004863145]likely benign28534326485343264Humanname
597765451CV3593543single nucleotide variantNM_017750.4(RETSAT):c.1669C>T (p.Pro557Ser)not specified [RCV004850041]uncertain significance28534366385343663Humanname
597731612CV3593546single nucleotide variantNM_017750.4(RETSAT):c.1498G>A (p.Val500Met)not specified [RCV004863149]uncertain significance28534403485344034Humanname
597765466CV3593549single nucleotide variantNM_017750.4(RETSAT):c.1438G>A (p.Gly480Arg)not specified [RCV004850045]uncertain significance28534409485344094Humanname
597765470CV3593550single nucleotide variantNM_017750.4(RETSAT):c.1100A>C (p.Asn367Thr)not specified [RCV004850046]uncertain significance28534599285345992Humanname
597765473CV3593551single nucleotide variantNM_017750.4(RETSAT):c.1759A>G (p.Ile587Val)not specified [RCV004850047]uncertain significance28534331685343316Humanname
597731623CV3593552single nucleotide variantNM_017750.4(RETSAT):c.1539G>C (p.Glu513Asp)not specified [RCV004863150]likely benign28534379385343793Humanname
598216054CV3905627single nucleotide variantNM_017750.4(RETSAT):c.1150G>A (p.Gly384Ser)not specified [RCV005271800]likely benign28534470085344700Humanname
598216069CV3905629single nucleotide variantNM_017750.4(RETSAT):c.1760T>C (p.Ile587Thr)not specified [RCV005271802]uncertain significance28534331585343315Humanname
598216076CV3905630single nucleotide variantNM_017750.4(RETSAT):c.1787T>G (p.Leu596Arg)not specified [RCV005271803]uncertain significance28534328885343288Humanname
598216083CV3905631single nucleotide variantNM_017750.4(RETSAT):c.1147C>G (p.Pro383Ala)not specified [RCV005271804]uncertain significance28534470385344703Humanname
15175646CV697685single nucleotide variantNM_017750.4(RETSAT):c.1295C>T (p.Ala432Val)not provided [RCV000950638]benign28534431085344310Humanname
15150495CV708386deletionNM_017750.4(RETSAT):c.1458_1459del (p.Tyr486_Glu487delinsTer)not provided [RCV000967956]benign28534407385344074Humanname