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292 records found for search term Amot
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8587050CV121676single nucleotide variantNM_133265.2(AMOT):c.-600C>TLung cancer [RCV000102196]uncertain significanceX112840619112840619Humanname
617150575CV4013502single nucleotide variantNM_001113490.2(AMOT):c.2T>C (p.Met1Thr)See cases [RCV005417364]uncertain significanceX112823125112823125Humanname
405817022CV3272762single nucleotide variantNM_001113490.2(AMOT):c.20A>T (p.Gln7Leu)not specified [RCV004412007]uncertain significanceX112823107112823107Humanname
156234260CV2245327single nucleotide variantNM_001113490.2(AMOT):c.38C>T (p.Thr13Met)not specified [RCV004107079]uncertain significanceX112823089112823089Humanname
156244868CV2267420single nucleotide variantNM_001113490.2(AMOT):c.70C>T (p.Arg24Cys)not specified [RCV004135855]uncertain significanceX112823057112823057Humanname
597624575CV3695621single nucleotide variantNM_001113490.2(AMOT):c.29G>T (p.Gly10Val)not specified [RCV004937622]uncertain significanceX112823098112823098Humanname
15110992CV729373single nucleotide variantNM_001113490.2(AMOT):c.948T>C (p.Ser316=)not provided [RCV000894180]benignX112815802112815802Humanname
329351802CV2455327single nucleotide variantNM_001113490.2(AMOT):c.199C>G (p.His67Asp)not specified [RCV004274834]uncertain significanceX112822928112822928Humanname
401921389CV2826813single nucleotide variantNM_001113490.2(AMOT):c.2751T>C (p.Ala917=)not provided [RCV003432400]likely benignX112779403112779403Humanname
401921393CV2826816single nucleotide variantNM_001113490.2(AMOT):c.1329C>T (p.Asp443=)not provided [RCV003432403]likely benignX112815421112815421Humanname
405816989CV3272729single nucleotide variantNM_001113490.2(AMOT):c.116A>T (p.Gln39Leu)not specified [RCV004411974]uncertain significanceX112823011112823011Humanname
405817008CV3272748single nucleotide variantNM_001113490.2(AMOT):c.148A>T (p.Ser50Cys)not specified [RCV004411993]uncertain significanceX112822979112822979Humanname
405817030CV3272794single nucleotide variantNM_001113490.2(AMOT):c.289T>C (p.Ser97Pro)not specified [RCV004412039]uncertain significanceX112822838112822838Humanname
407494082CV3446566single nucleotide variantNM_001113490.2(AMOT):c.117G>C (p.Gln39His)not specified [RCV004642901]uncertain significanceX112823010112823010Humanname
597624628CV3695655single nucleotide variantNM_001113490.2(AMOT):c.292C>T (p.Pro98Ser)not specified [RCV004937650]uncertain significanceX112822835112822835Humanname
597794972CV3698621single nucleotide variantNM_001113490.2(AMOT):c.152G>T (p.Gly51Val)not specified [RCV004934690]uncertain significanceX112822975112822975Humanname
15097597CV706083single nucleotide variantNM_001113490.2(AMOT):c.2340G>A (p.Ser780=)not provided [RCV000958351]benignX112781019112781019Humanname
15129527CV717604single nucleotide variantNM_001113490.2(AMOT):c.1614G>A (p.Ser538=)not provided [RCV000964272]benignX112809910112809910Humanname
15189724CV743108single nucleotide variantNM_001113490.2(AMOT):c.2946G>A (p.Pro982=)not provided [RCV000909738]benignX112779208112779208Humanname
15125216CV743110single nucleotide variantNM_001113490.2(AMOT):c.1401A>G (p.Thr467=)not provided [RCV000896723]benignX112811385112811385Humanname
156210330CV2309688single nucleotide variantNM_001113490.2(AMOT):c.947C>T (p.Ser316Phe)not specified [RCV004160824]uncertain significanceX112815803112815803Humanname
401762199CV2723354single nucleotide variantNM_001113490.2(AMOT):c.788A>G (p.Tyr263Cys)not specified [RCV004329567]uncertain significanceX112822339112822339Humanname
401876761CV2783011single nucleotide variantNM_001113490.2(AMOT):c.395A>G (p.Tyr132Cys)not specified [RCV004361799]uncertain significanceX112822732112822732Humanname
405817050CV3272814single nucleotide variantNM_001113490.2(AMOT):c.458A>G (p.Asn153Ser)not specified [RCV004412059]uncertain significanceX112822669112822669Humanname
405817054CV3272818single nucleotide variantNM_001113490.2(AMOT):c.694G>A (p.Gly232Ser)not specified [RCV004412063]uncertain significanceX112822433112822433Humanname
405817062CV3272826single nucleotide variantNM_001113490.2(AMOT):c.719C>A (p.Pro240Gln)not specified [RCV004412071]uncertain significanceX112822408112822408Humanname
405817067CV3272831single nucleotide variantNM_001113490.2(AMOT):c.961C>T (p.Pro321Ser)not specified [RCV004412076]uncertain significanceX112815789112815789Humanname
407494102CV3446577single nucleotide variantNM_001113490.2(AMOT):c.820A>C (p.Thr274Pro)not specified [RCV004642908]uncertain significanceX112822307112822307Humanname
597624564CV3695602single nucleotide variantNM_001113490.2(AMOT):c.797A>T (p.His266Leu)not specified [RCV004937611]uncertain significanceX112822330112822330Humanname
597624619CV3695645single nucleotide variantNM_001113490.2(AMOT):c.941T>C (p.Leu314Pro)not specified [RCV004937641]uncertain significanceX112815809112815809Humanname
597624635CV3695665single nucleotide variantNM_001113490.2(AMOT):c.359G>A (p.Arg120Gln)not specified [RCV004937657]uncertain significanceX112822768112822768Humanname
598211231CV3972582single nucleotide variantNM_001113490.2(AMOT):c.800G>A (p.Arg267His)not specified [RCV005358648]uncertain significanceX112822327112822327Humanname
150410897CV1196287single nucleotide variantNM_001113490.2(AMOT):c.1103G>A (p.Arg368His)not provided [RCV001573368]likely benignX112815647112815647Humanname
156136848CV2210316single nucleotide variantNM_001113490.2(AMOT):c.1414G>C (p.Val472Leu)not specified [RCV004089475]uncertain significanceX112811372112811372Humanname
156240348CV2245970single nucleotide variantNM_001113490.2(AMOT):c.2884T>G (p.Ser962Ala)not specified [RCV004113897]likely benignX112779270112779270Humanname
156017473CV2262870single nucleotide variantNM_001113490.2(AMOT):c.1531C>A (p.Leu511Met)not specified [RCV004125016]uncertain significanceX112811255112811255Humanname
11051522CV226656single nucleotide variantNM_001113490.2(AMOT):c.1926G>C (p.Gln642His)Cerebral visual impairment and intellectual disability [RCV000210410]likely pathogenicX112791832112791832Human1name
156277984CV2300334single nucleotide variantNM_001113490.2(AMOT):c.1505G>A (p.Arg502Gln)not specified [RCV004153279]uncertain significanceX112811281112811281Humanname
155942029CV2301031single nucleotide variantNM_001113490.2(AMOT):c.1228A>G (p.Met410Val)not specified [RCV004158184]uncertain significanceX112815522112815522Humanname
155971325CV2309285single nucleotide variantNM_001113490.2(AMOT):c.1438G>C (p.Val480Leu)not specified [RCV004165447]uncertain significanceX112811348112811348Humanname
155974025CV2317805single nucleotide variantNM_001113490.2(AMOT):c.1601G>A (p.Arg534Lys)not specified [RCV004175051]uncertain significanceX112809923112809923Humanname
155910457CV2369943single nucleotide variantNM_001113490.2(AMOT):c.1295C>G (p.Ser432Cys)not specified [RCV004208408]uncertain significanceX112815455112815455Humanname
155936532CV2379846single nucleotide variantNM_001113490.2(AMOT):c.1784A>G (p.Lys595Arg)not specified [RCV004219956]uncertain significanceX112791974112791974Humanname
329392698CV2471511single nucleotide variantNM_001113490.2(AMOT):c.1084C>T (p.His362Tyr)not specified [RCV004280503]uncertain significanceX112815666112815666Humanname
401767644CV2681730single nucleotide variantNM_001113490.2(AMOT):c.1327G>A (p.Asp443Asn)not specified [RCV004294274]uncertain significanceX112815423112815423Humanname
401773059CV2709099single nucleotide variantNM_001113490.2(AMOT):c.1525A>G (p.Arg509Gly)not specified [RCV004314434]uncertain significanceX112811261112811261Humanname
401856408CV2754683single nucleotide variantNM_001113490.2(AMOT):c.2339C>T (p.Ser780Leu)not specified [RCV004339354]uncertain significanceX112781020112781020Humanname
401877277CV2764571single nucleotide variantNM_001113490.2(AMOT):c.1379C>G (p.Ala460Gly)not specified [RCV004339126]uncertain significanceX112815371112815371Humanname
401868139CV2767155single nucleotide variantNM_001113490.2(AMOT):c.2338T>A (p.Ser780Thr)not specified [RCV004347552]uncertain significanceX112781021112781021Humanname
401921391CV2826814single nucleotide variantNM_001113490.2(AMOT):c.2738T>C (p.Val913Ala)not provided [RCV003432401]likely benignX112779416112779416Humanname
401921392CV2826815single nucleotide variantNM_001113490.2(AMOT):c.2683G>A (p.Ala895Thr)not provided [RCV003432402]likely benignX112779471112779471Humanname
405816986CV3272726single nucleotide variantNM_001113490.2(AMOT):c.1112A>T (p.Gln371Leu)not specified [RCV004411971]uncertain significanceX112815638112815638Humanname
405816998CV3272738single nucleotide variantNM_001113490.2(AMOT):c.1334A>G (p.Asn445Ser)not specified [RCV004411983]uncertain significanceX112815416112815416Humanname
405817014CV3272754single nucleotide variantNM_001113490.2(AMOT):c.1678A>T (p.Thr560Ser)not specified [RCV004411999]uncertain significanceX112805045112805045Humanname
405817142CV3272765single nucleotide variantNM_001113490.2(AMOT):c.2107G>A (p.Ala703Thr)not specified [RCV004412010]uncertain significanceX112790602112790602Humanname
405817136CV3272771single nucleotide variantNM_001113490.2(AMOT):c.2348G>A (p.Arg783Gln)not specified [RCV004412016]uncertain significanceX112781011112781011Humanname
405817133CV3272774single nucleotide variantNM_001113490.2(AMOT):c.2378A>G (p.Asn793Ser)not specified [RCV004412019]uncertain significanceX112780981112780981Humanname
405817130CV3272777single nucleotide variantNM_001113490.2(AMOT):c.2479C>T (p.Leu827Phe)not specified [RCV004412022]uncertain significanceX112779675112779675Humanname
405817127CV3272780single nucleotide variantNM_001113490.2(AMOT):c.2488G>A (p.Gly830Arg)not specified [RCV004412025]uncertain significanceX112779666112779666Humanname
407469092CV3446588single nucleotide variantNM_001113490.2(AMOT):c.1646G>A (p.Arg549His)not specified [RCV004636509]uncertain significanceX112805077112805077Humanname
407469105CV3446598single nucleotide variantNM_001113490.2(AMOT):c.1952A>G (p.Asn651Ser)not specified [RCV004636513]likely benignX112790757112790757Humanname
407469111CV3446609single nucleotide variantNM_001113490.2(AMOT):c.1541G>A (p.Arg514His)not specified [RCV004636515]uncertain significanceX112809983112809983Humanname
597624562CV3695583single nucleotide variantNM_001113490.2(AMOT):c.2797G>A (p.Ala933Thr)not specified [RCV004937609]uncertain significanceX112779357112779357Humanname
597624569CV3695612single nucleotide variantNM_001113490.2(AMOT):c.1337G>A (p.Arg446Gln)not specified [RCV004937616]uncertain significanceX112815413112815413Humanname
597624582CV3695629single nucleotide variantNM_001113490.2(AMOT):c.2384G>T (p.Gly795Val)not specified [RCV004937629]uncertain significanceX112780975112780975Humanname
597624612CV3695637single nucleotide variantNM_001113490.2(AMOT):c.1220A>T (p.Tyr407Phe)not specified [RCV004937635]uncertain significanceX112815530112815530Humanname
597794952CV3698593single nucleotide variantNM_001113490.2(AMOT):c.2367G>A (p.Met789Ile)not specified [RCV004934683]uncertain significanceX112780992112780992Humanname
597794961CV3698602single nucleotide variantNM_001113490.2(AMOT):c.1234C>T (p.Arg412Trp)not specified [RCV004934686]uncertain significanceX112815516112815516Humanname
597798382CV3698612single nucleotide variantNM_001113490.2(AMOT):c.1622T>G (p.Phe541Cys)not specified [RCV004936116]uncertain significanceX112809902112809902Humanname
598211216CV3972571single nucleotide variantNM_001113490.2(AMOT):c.1986G>C (p.Glu662Asp)not specified [RCV005358646]uncertain significanceX112790723112790723Humanname
15168918CV717603single nucleotide variantNM_001113490.2(AMOT):c.2957C>T (p.Pro986Leu)not provided [RCV000971710]|not specified [RCV004029961]likely benign|uncertain significanceX112779197112779197Humanname
15188806CV729372single nucleotide variantNM_001113490.2(AMOT):c.2501C>A (p.Ala834Asp)not provided [RCV000887645]|not specified [RCV004028364]likely benign|uncertain significanceX112779653112779653Humanname
15144067CV743109single nucleotide variantNM_001113490.2(AMOT):c.2695A>G (p.Thr899Ala)not provided [RCV000899942]benignX112779459112779459Humanname
155960871CV2285450single nucleotide variantNM_001113490.2(AMOT):c.3067G>C (p.Ala1023Pro)not specified [RCV004139304]uncertain significanceX112779087112779087Humanname
329392907CV2469062single nucleotide variantNM_001113490.2(AMOT):c.3160G>C (p.Gly1054Arg)not specified [RCV004274306]uncertain significanceX112778662112778662Humanname
401759829CV2707161single nucleotide variantNM_001113490.2(AMOT):c.3064G>C (p.Val1022Leu)not specified [RCV004315525]likely benignX112779090112779090Humanname
401863103CV2755857single nucleotide variantNM_001113490.2(AMOT):c.3172C>T (p.His1058Tyr)not specified [RCV004342225]uncertain significanceX112778650112778650Humanname
401897144CV2789864single nucleotide variantNM_001113490.2(AMOT):c.3192A>C (p.Arg1064Ser)not specified [RCV004362251]uncertain significanceX112778630112778630Humanname
401921388CV2826812single nucleotide variantNM_001113490.2(AMOT):c.3023C>T (p.Pro1008Leu)not provided [RCV003432399]likely benignX112779131112779131Humanname
597624563CV3695594single nucleotide variantNM_001113490.2(AMOT):c.3112C>T (p.His1038Tyr)not specified [RCV004937610]uncertain significanceX112779042112779042Humanname
597624561CV3698630single nucleotide variantNM_001113490.2(AMOT):c.3237G>A (p.Met1079Ile)not specified [RCV004937608]uncertain significanceX112778585112778585Humanname
598195409CV3972560single nucleotide variantNM_001113490.2(AMOT):c.3190A>G (p.Arg1064Gly)not specified [RCV005354988]uncertain significanceX112778632112778632Humanname
15120940CV717602single nucleotide variantNM_001113490.2(AMOT):c.3095C>T (p.Ala1032Val)not provided [RCV000962803]benignX112779059112779059Humanname
401857278CV2752161indelNM_001113490.2(AMOT):c.3043_3044delinsT (p.Ala1015fs)not provided [RCV003336038]uncertain significanceX112779110112779111Humanname
15175122CV706082deletionNM_001113490.2(AMOT):c.2738_2764del (p.Val913_Pro921del)not provided [RCV000950503]benignX112779390112779416Humanname
15190212CV729371deletionNM_001113490.2(AMOT):c.2683_2703del (p.Ala895_Ala901del)not provided [RCV000888038]likely benignX112779451112779471Humanname
597715667CV3733207single nucleotide variantNM_130847.3(AMOTL1):c.199+2T>Cnot provided [RCV005052396]uncertain significance119479516294795162Humanname
156031574CV2376379single nucleotide variantNM_016201.4(AMOTL2):c.23C>T (p.Ser8Leu)not specified [RCV004220570]uncertain significance3134371411134371411Humanname
598195647CV3972659single nucleotide variantNM_130847.3(AMOTL1):c.20G>A (p.Arg7His)not specified [RCV005355032]uncertain significance119476853194768531Humanname
401770044CV2710841single nucleotide variantNM_016201.4(AMOTL2):c.82A>T (p.Thr28Ser)not specified [RCV004308762]uncertain significance3134371352134371352Humanname
405817410CV3269316single nucleotide variantNM_016201.4(AMOTL2):c.85C>T (p.Arg29Cys)not specified [RCV004412396]uncertain significance3134371349134371349Humanname
405852846CV3393272single nucleotide variantNM_130847.3(AMOTL1):c.519G>A (p.Glu173=)not provided [RCV004546002]likely benign119479970994799709Humanname
407425376CV3409476single nucleotide variantNM_130847.3(AMOTL1):c.768C>T (p.Gly256=)not provided [RCV004585408]likely benign119479995894799958Humanname
407494624CV3456833single nucleotide variantNM_016201.4(AMOTL2):c.86G>A (p.Arg29His)not specified [RCV004643036]uncertain significance3134371348134371348Humanname
597795074CV3695821single nucleotide variantNM_130847.3(AMOTL1):c.38C>T (p.Pro13Leu)not specified [RCV004934726]uncertain significance119476854994768549Humanname
597624833CV3695926single nucleotide variantNM_016201.4(AMOTL2):c.29C>T (p.Thr10Ile)not specified [RCV004937854]uncertain significance3134371405134371405Humanname
598171053CV3972690single nucleotide variantNM_016201.4(AMOTL2):c.40C>T (p.Arg14Cys)not specified [RCV005370495]uncertain significance3134371394134371394Humanname
598171124CV3972717single nucleotide variantNM_016201.4(AMOTL2):c.88A>G (p.Thr30Ala)not specified [RCV005370513]uncertain significance3134371346134371346Humanname
15150447CV738368single nucleotide variantNM_130847.3(AMOTL1):c.714T>C (p.Arg238=)not provided [RCV000901155]benign119479990494799904Humanname
15150453CV738369single nucleotide variantNM_130847.3(AMOTL1):c.840C>T (p.Pro280=)not provided [RCV000901156]benign119480003094800030Humanname
156274379CV2202606single nucleotide variantNM_130847.3(AMOTL1):c.278C>G (p.Ala93Gly)not specified [RCV004082864]uncertain significance119479946894799468Humanname
156005520CV2290354single nucleotide variantNM_130847.3(AMOTL1):c.265G>A (p.Gly89Ser)not specified [RCV004154782]uncertain significance119479945594799455Humanname
156224435CV2395164single nucleotide variantNM_130847.3(AMOTL1):c.164C>A (p.Thr55Lys)not specified [RCV004236837]uncertain significance119479512594795125Humanname
401743143CV2677778single nucleotide variantNM_016201.4(AMOTL2):c.242G>T (p.Gly81Val)not specified [RCV004291850]uncertain significance3134371192134371192Humanname
401759812CV2701732single nucleotide variantNM_130847.3(AMOTL1):c.290C>T (p.Thr97Ile)not specified [RCV004314137]uncertain significance119479948094799480Humanname
405817110CV3272874single nucleotide variantNM_130847.3(AMOTL1):c.164C>T (p.Thr55Met)not specified [RCV004412119]uncertain significance119479512594795125Humanname
597624889CV3692518single nucleotide variantNM_016201.4(AMOTL2):c.231G>C (p.Gln77His)not specified [RCV004937934]uncertain significance3134371203134371203Humanname
597795031CV3695714single nucleotide variantNM_130847.3(AMOTL1):c.277G>T (p.Ala93Ser)not specified [RCV004934711]uncertain significance119479946794799467Humanname
597624811CV3695899single nucleotide variantNM_016201.4(AMOTL2):c.205G>A (p.Ala69Thr)not specified [RCV004937832]uncertain significance3134371229134371229Humanname
15102021CV702039single nucleotide variantNM_130847.3(AMOTL1):c.1956T>C (p.Asn652=)not provided [RCV000959210]benign119485953694859536Humanname
15102112CV702040single nucleotide variantNM_130847.3(AMOTL1):c.2811C>G (p.Val937=)not provided [RCV000959227]benign119487073594870735Humanname
15172381CV708595single nucleotide variantNM_016201.4(AMOTL2):c.1362T>C (p.Arg454=)not provided [RCV000972392]benign3134361725134361725Humanname
15109056CV724813single nucleotide variantNM_130847.3(AMOTL1):c.2583G>A (p.Thr861=)not provided [RCV000893791]benign119486929294869292Humanname
15150458CV738370single nucleotide variantNM_130847.3(AMOTL1):c.1755G>A (p.Leu585=)not provided [RCV000901157]benign119485022094850220Humanname
156378670CV2207778single nucleotide variantNM_016201.4(AMOTL2):c.851C>T (p.Pro284Leu)not specified [RCV004084215]uncertain significance3134367687134367687Humanname
156094619CV2213423single nucleotide variantNM_016201.4(AMOTL2):c.625C>A (p.Pro209Thr)not specified [RCV004087402]uncertain significance3134370809134370809Humanname
156045786CV2216033single nucleotide variantNM_130847.3(AMOTL1):c.640G>A (p.Val214Met)not specified [RCV004097075]uncertain significance119479983094799830Humanname
156064757CV2229034single nucleotide variantNM_016201.4(AMOTL2):c.353C>G (p.Ala118Gly)not specified [RCV004098817]uncertain significance3134371081134371081Humanname
155943718CV2241727single nucleotide variantNM_016201.4(AMOTL2):c.859T>A (p.Ser287Thr)not specified [RCV004106670]uncertain significance3134367679134367679Humanname
156302183CV2241728single nucleotide variantNM_016201.4(AMOTL2):c.860C>A (p.Ser287Tyr)not specified [RCV004106671]uncertain significance3134367678134367678Humanname
156233645CV2245276single nucleotide variantNM_130847.3(AMOTL1):c.323G>A (p.Arg108Gln)not specified [RCV004107040]uncertain significance119479951394799513Humanname
156083138CV2249180single nucleotide variantNM_016201.4(AMOTL2):c.988C>T (p.Arg330Trp)not specified [RCV004118227]uncertain significance3134367550134367550Humanname
156084918CV2249293single nucleotide variantNM_130847.3(AMOTL1):c.383G>A (p.Ser128Asn)not specified [RCV004118319]uncertain significance119479957394799573Humanname
156177322CV2301229single nucleotide variantNM_016201.4(AMOTL2):c.482G>A (p.Arg161Gln)not specified [RCV004160133]uncertain significance3134370952134370952Humanname
156018049CV2302717single nucleotide variantNM_130847.3(AMOTL1):c.340G>A (p.Glu114Lys)not specified [RCV004162648]uncertain significance119479953094799530Humanname
156107845CV2304062single nucleotide variantNM_016201.4(AMOTL2):c.374G>A (p.Arg125Gln)not specified [RCV004170108]uncertain significance3134371060134371060Humanname
156209828CV2304589single nucleotide variantNM_130847.3(AMOTL1):c.337A>G (p.Thr113Ala)not specified [RCV004166484]uncertain significance119479952794799527Humanname
156177197CV2317226single nucleotide variantNM_130847.3(AMOTL1):c.731C>A (p.Ala244Glu)not specified [RCV004178725]uncertain significance119479992194799921Humanname
156062322CV2323237single nucleotide variantNM_016201.4(AMOTL2):c.521C>T (p.Ala174Val)not specified [RCV004187626]uncertain significance3134370913134370913Humanname
155900784CV2345674single nucleotide variantNM_016201.4(AMOTL2):c.388G>T (p.Asp130Tyr)not specified [RCV004205617]uncertain significance3134371046134371046Humanname
156247593CV2357070single nucleotide variantNM_016201.4(AMOTL2):c.949G>A (p.Val317Met)not specified [RCV004206871]uncertain significance3134367589134367589Humanname
156132036CV2365680single nucleotide variantNM_016201.4(AMOTL2):c.841G>A (p.Gly281Ser)not specified [RCV004214232]likely benign3134367697134367697Humanname
156341572CV2368424single nucleotide variantNM_016201.4(AMOTL2):c.565C>T (p.Arg189Cys)not specified [RCV004219190]uncertain significance3134370869134370869Humanname
156097029CV2375516single nucleotide variantNM_016201.4(AMOTL2):c.688C>T (p.Arg230Trp)not specified [RCV004226025]uncertain significance3134370746134370746Humanname
156255000CV2397600single nucleotide variantNM_016201.4(AMOTL2):c.983A>G (p.Asn328Ser)not specified [RCV004237057]uncertain significance3134367555134367555Humanname
243053837CV2416415single nucleotide variantNM_130847.3(AMOTL1):c.470G>T (p.Arg157Leu)not provided [RCV003149476]uncertain significance119479966094799660Humanname
329375275CV2468467single nucleotide variantNM_016201.4(AMOTL2):c.559C>A (p.Leu187Met)not specified [RCV004278051]uncertain significance3134370875134370875Humanname
401746465CV2694862single nucleotide variantNM_130847.3(AMOTL1):c.601T>C (p.Phe201Leu)not specified [RCV004300936]uncertain significance119479979194799791Humanname
405175760CV2915615single nucleotide variantNM_130847.3(AMOTL1):c.469C>T (p.Arg157Cys)CRANIOFACIOCARDIOHEPATIC SYNDROME [RCV005409944]|not provided [RCV003563521]pathogenic119479965994799659Human1name
405817382CV3269288single nucleotide variantNM_016201.4(AMOTL2):c.611C>T (p.Pro204Leu)not specified [RCV004412368]uncertain significance3134370823134370823Humanname
405817392CV3269298single nucleotide variantNM_016201.4(AMOTL2):c.638A>G (p.Tyr213Cys)not specified [RCV004412378]uncertain significance3134370796134370796Humanname
405817221CV3272985single nucleotide variantNM_130847.3(AMOTL1):c.617A>G (p.Gln206Arg)not specified [RCV004412230]uncertain significance119479980794799807Humanname
405817235CV3272999single nucleotide variantNM_130847.3(AMOTL1):c.845C>T (p.Ser282Leu)not specified [RCV004412244]uncertain significance119480003594800035Humanname
405817241CV3273005single nucleotide variantNM_130847.3(AMOTL1):c.991G>A (p.Gly331Arg)not specified [RCV004412250]uncertain significance119480018194800181Humanname
407494318CV3446653single nucleotide variantNM_130847.3(AMOTL1):c.713G>A (p.Arg238His)not specified [RCV004642964]uncertain significance119479990394799903Humanname
407494534CV3456806single nucleotide variantNM_016201.4(AMOTL2):c.373C>T (p.Arg125Trp)not specified [RCV004643013]uncertain significance3134371061134371061Humanname
407469211CV3456843single nucleotide variantNM_016201.4(AMOTL2):c.700C>A (p.Arg234Ser)not specified [RCV004636548]uncertain significance3134370734134370734Humanname
407494709CV3456853single nucleotide variantNM_016201.4(AMOTL2):c.502G>A (p.Glu168Lys)not specified [RCV004643053]uncertain significance3134370932134370932Humanname
597624696CV3695735single nucleotide variantNM_130847.3(AMOTL1):c.926C>T (p.Pro309Leu)not specified [RCV004937717]uncertain significance119480011694800116Humanname
597624825CV3695915single nucleotide variantNM_016201.4(AMOTL2):c.617C>T (p.Ser206Phe)not specified [RCV004937846]uncertain significance3134370817134370817Humanname
597624877CV3695990single nucleotide variantNM_016201.4(AMOTL2):c.828T>G (p.His276Gln)not specified [RCV004937904]uncertain significance3134367710134367710Humanname
597795104CV3696000single nucleotide variantNM_016201.4(AMOTL2):c.367G>A (p.Gly123Arg)not specified [RCV004934760]uncertain significance3134371067134371067Humanname
597624873CV3696009single nucleotide variantNM_016201.4(AMOTL2):c.811C>T (p.His271Tyr)not specified [RCV004937918]uncertain significance3134367727134367727Humanname
598195673CV3972670single nucleotide variantNM_016201.4(AMOTL2):c.599C>T (p.Pro200Leu)not specified [RCV005355038]uncertain significance3134370835134370835Humanname
598171092CV3972707single nucleotide variantNM_016201.4(AMOTL2):c.724G>A (p.Ala242Thr)not specified [RCV005370505]uncertain significance3134370710134370710Humanname
598211327CV3972733single nucleotide variantNM_016201.4(AMOTL2):c.463G>A (p.Val155Met)not specified [RCV005358663]uncertain significance3134370971134370971Humanname
598171217CV3972759single nucleotide variantNM_016201.4(AMOTL2):c.364G>A (p.Ala122Thr)not specified [RCV005370536]uncertain significance3134371070134371070Humanname
598171229CV3972769single nucleotide variantNM_016201.4(AMOTL2):c.701G>A (p.Arg234His)not specified [RCV005370539]uncertain significance3134370733134370733Humanname
616938693CV4013395single nucleotide variantNM_130847.3(AMOTL1):c.470G>A (p.Arg157His)CRANIOFACIOCARDIOHEPATIC SYNDROME [RCV005410859]pathogenic119479966094799660Human1name
616938130CV4013396single nucleotide variantNM_130847.3(AMOTL1):c.428A>G (p.Asn143Ser)CRANIOFACIOCARDIOHEPATIC SYNDROME [RCV005410860]pathogenic119479961894799618Human1name
15186174CV697852single nucleotide variantNM_016201.4(AMOTL2):c.518G>A (p.Arg173Gln)not provided [RCV000953204]benign3134370916134370916Humanname
39457041CV917804single nucleotide variantNM_130847.3(AMOTL1):c.479C>T (p.Pro160Leu)CRANIOFACIOCARDIOHEPATIC SYNDROME [RCV005409783]|Hypertelorism [RCV001254927]|not provided [RCV001863069]|not specified [RCV004935189]pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance119479966994799669Human7name
156081391CV2195410single nucleotide variantNM_130847.3(AMOTL1):c.1262C>T (p.Pro421Leu)not specified [RCV004080321]uncertain significance119482167094821670Humanname
155962964CV2197696single nucleotide variantNM_016201.4(AMOTL2):c.1640G>A (p.Arg547Gln)not specified [RCV004074902]uncertain significance3134360349134360349Humanname
156225238CV2203032single nucleotide variantNM_016201.4(AMOTL2):c.1658G>A (p.Arg553Gln)not specified [RCV004069284]uncertain significance3134360331134360331Humanname
156370879CV2204359single nucleotide variantNM_016201.4(AMOTL2):c.1633G>T (p.Ala545Ser)not specified [RCV004079180]uncertain significance3134360356134360356Humanname
155918726CV2206070single nucleotide variantNM_130847.3(AMOTL1):c.1703G>A (p.Arg568Gln)not specified [RCV004078481]uncertain significance119485016894850168Humanname
156328411CV2213609single nucleotide variantNM_130847.3(AMOTL1):c.2411A>G (p.His804Arg)not specified [RCV004089695]uncertain significance119486609194866091Humanname
156380500CV2218783single nucleotide variantNM_016201.4(AMOTL2):c.1301A>T (p.Gln434Leu)not specified [RCV004085031]uncertain significance3134361786134361786Humanname
156336825CV2228596single nucleotide variantNM_130847.3(AMOTL1):c.2825A>G (p.His942Arg)not specified [RCV004092825]uncertain significance119487074994870749Humanname
156126608CV2234420single nucleotide variantNM_130847.3(AMOTL1):c.1780A>C (p.Lys594Gln)not specified [RCV004100634]uncertain significance119485024594850245Humanname
156236772CV2235603single nucleotide variantNM_016201.4(AMOTL2):c.1061G>A (p.Arg354Gln)not specified [RCV004111758]uncertain significance3134366408134366408Humanname
156270494CV2236982single nucleotide variantNM_130847.3(AMOTL1):c.2125G>A (p.Ala709Thr)not specified [RCV004112975]uncertain significance119485970594859705Humanname
155942957CV2244849single nucleotide variantNM_016201.4(AMOTL2):c.1303G>A (p.Glu435Lys)not specified [RCV004104609]uncertain significance3134361784134361784Humanname
156162219CV2246496single nucleotide variantNM_016201.4(AMOTL2):c.1316G>A (p.Arg439Gln)not specified [RCV004110254]uncertain significance3134361771134361771Humanname
156213599CV2257389single nucleotide variantNM_130847.3(AMOTL1):c.1118C>T (p.Thr373Met)not specified [RCV004125476]uncertain significance119480030894800308Humanname
156111973CV2261820single nucleotide variantNM_016201.4(AMOTL2):c.1106G>A (p.Arg369His)not provided [RCV004695460]|not specified [RCV004126093]uncertain significance3134366363134366363Humanname
156256075CV2277557single nucleotide variantNM_016201.4(AMOTL2):c.2204C>A (p.Pro735Gln)not specified [RCV004145243]uncertain significance3134358620134358620Humanname
156041224CV2279182single nucleotide variantNM_130847.3(AMOTL1):c.2392G>A (p.Ala798Thr)not specified [RCV004139416]uncertain significance119486607294866072Humanname
156074008CV2281410single nucleotide variantNM_016201.4(AMOTL2):c.1765A>G (p.Thr589Ala)not specified [RCV004153746]uncertain significance3134360224134360224Humanname
156075797CV2281544single nucleotide variantNM_016201.4(AMOTL2):c.1412G>A (p.Arg471Gln)not specified [RCV004153854]uncertain significance3134361675134361675Humanname
156239673CV2285986single nucleotide variantNM_016201.4(AMOTL2):c.2110A>G (p.Arg704Gly)not specified [RCV004143898]uncertain significance3134358714134358714Humanname
156283730CV2288926single nucleotide variantNM_016201.4(AMOTL2):c.1417G>C (p.Glu473Gln)not specified [RCV004149895]uncertain significance3134361670134361670Humanname
156089312CV2290784single nucleotide variantNM_130847.3(AMOTL1):c.2391A>G (p.Ile797Met)not specified [RCV004149291]uncertain significance119486607194866071Humanname
156290863CV2296562single nucleotide variantNM_130847.3(AMOTL1):c.1478G>A (p.Arg493Gln)not specified [RCV004154632]uncertain significance119483011494830114Humanname
156154029CV2303873single nucleotide variantNM_016201.4(AMOTL2):c.1414G>T (p.Ala472Ser)not specified [RCV004168161]uncertain significance3134361673134361673Humanname
156248107CV2307108single nucleotide variantNM_130847.3(AMOTL1):c.1190C>G (p.Ser397Cys)not specified [RCV004159590]uncertain significance119482159894821598Humanname
156150142CV2307459single nucleotide variantNM_016201.4(AMOTL2):c.1835A>G (p.Asn612Ser)not specified [RCV004166122]uncertain significance3134360154134360154Humanname
156064452CV2316137single nucleotide variantNM_016201.4(AMOTL2):c.1122G>T (p.Lys374Asn)not specified [RCV004174188]uncertain significance3134366347134366347Humanname
155975807CV2341598single nucleotide variantNM_016201.4(AMOTL2):c.2213C>T (p.Thr738Ile)not specified [RCV004188982]uncertain significance3134358611134358611Humanname
156241771CV2346947single nucleotide variantNM_130847.3(AMOTL1):c.2713C>T (p.His905Tyr)not specified [RCV004202394]uncertain significance119486942294869422Humanname
156068949CV2356954single nucleotide variantNM_016201.4(AMOTL2):c.1403G>A (p.Arg468Gln)not specified [RCV004204324]uncertain significance3134361684134361684Humanname
155918348CV2362582single nucleotide variantNM_130847.3(AMOTL1):c.1943A>G (p.Gln648Arg)not specified [RCV004215237]uncertain significance119485408194854081Humanname
155925675CV2365625single nucleotide variantNM_016201.4(AMOTL2):c.1803T>G (p.His601Gln)not specified [RCV004214189]uncertain significance3134360186134360186Humanname
156287305CV2370481single nucleotide variantNM_016201.4(AMOTL2):c.1780C>T (p.Arg594Cys)not specified [RCV004215829]uncertain significance3134360209134360209Humanname
156288456CV2370657single nucleotide variantNM_016201.4(AMOTL2):c.1366G>A (p.Glu456Lys)not specified [RCV004209065]uncertain significance3134361721134361721Humanname
155935508CV2371814single nucleotide variantNM_130847.3(AMOTL1):c.1018G>A (p.Gly340Arg)not specified [RCV004219469]uncertain significance119480020894800208Humanname
156266149CV2389138single nucleotide variantNM_130847.3(AMOTL1):c.2417G>A (p.Arg806His)not specified [RCV004235469]uncertain significance119486609794866097Humanname
156220383CV2393722single nucleotide variantNM_016201.4(AMOTL2):c.1475C>T (p.Ala492Val)not specified [RCV004231522]uncertain significance3134361612134361612Humanname
156113212CV2397022single nucleotide variantNM_016201.4(AMOTL2):c.1031G>A (p.Arg344His)not specified [RCV004236539]uncertain significance3134367507134367507Humanname
243051927CV2404218single nucleotide variantNM_130847.3(AMOTL1):c.1523T>C (p.Ile508Thr)not provided [RCV003129244]uncertain significance119483015994830159Humanname
329367336CV2427362single nucleotide variantNM_016201.4(AMOTL2):c.1812G>C (p.Gln604His)not specified [RCV004248218]uncertain significance3134360177134360177Humanname
329366690CV2441816single nucleotide variantNM_016201.4(AMOTL2):c.1951A>G (p.Arg651Gly)not specified [RCV004262018]uncertain significance3134359436134359436Humanname
329398230CV2464319single nucleotide variantNM_130847.3(AMOTL1):c.2106G>T (p.Met702Ile)not specified [RCV004276274]uncertain significance119485968694859686Humanname
401721313CV2673674single nucleotide variantNM_130847.3(AMOTL1):c.1223C>T (p.Pro408Leu)not specified [RCV004282405]uncertain significance119482163194821631Humanname
401730988CV2674222single nucleotide variantNM_016201.4(AMOTL2):c.1730G>A (p.Arg577His)not specified [RCV004289113]uncertain significance3134360259134360259Humanname
401740868CV2680496single nucleotide variantNM_016201.4(AMOTL2):c.1345G>A (p.Glu449Lys)not specified [RCV004291137]uncertain significance3134361742134361742Humanname
401727243CV2684529single nucleotide variantNM_016201.4(AMOTL2):c.1637T>C (p.Leu546Pro)not specified [RCV004291597]uncertain significance3134360352134360352Humanname
401747554CV2688945single nucleotide variantNM_130847.3(AMOTL1):c.2243G>T (p.Cys748Phe)not specified [RCV004303946]uncertain significance119486484294864842Humanname
401769744CV2689917single nucleotide variantNM_016201.4(AMOTL2):c.2141C>G (p.Ala714Gly)not specified [RCV004297808]uncertain significance3134358683134358683Humanname
401745043CV2693167single nucleotide variantNM_130847.3(AMOTL1):c.1592G>T (p.Ser531Ile)not specified [RCV004293100]uncertain significance119483148594831485Humanname
401749878CV2695861single nucleotide variantNM_130847.3(AMOTL1):c.1208A>G (p.His403Arg)not specified [RCV004308142]uncertain significance119482161694821616Humanname
401756859CV2696534single nucleotide variantNM_130847.3(AMOTL1):c.1556G>A (p.Arg519Gln)not specified [RCV004312600]uncertain significance119483019294830192Humanname
401725992CV2699011single nucleotide variantNM_130847.3(AMOTL1):c.2096A>T (p.His699Leu)not specified [RCV004303536]uncertain significance119485967694859676Humanname
401738135CV2700998single nucleotide variantNM_130847.3(AMOTL1):c.1581G>C (p.Arg527Ser)not specified [RCV004307252]uncertain significance119483147494831474Humanname
401717631CV2703937single nucleotide variantNM_016201.4(AMOTL2):c.1133A>C (p.Asn378Thr)not specified [RCV004308835]uncertain significance3134366336134366336Humanname
401739383CV2708432single nucleotide variantNM_130847.3(AMOTL1):c.2432C>T (p.Thr811Ile)not specified [RCV004313534]uncertain significance119486611294866112Humanname
401762595CV2719990single nucleotide variantNM_130847.3(AMOTL1):c.1162C>T (p.His388Tyr)not specified [RCV004323573]uncertain significance119482157094821570Humanname
401725102CV2725702single nucleotide variantNM_130847.3(AMOTL1):c.1029C>A (p.His343Gln)not specified [RCV004322399]uncertain significance119480021994800219Humanname
401779158CV2733176single nucleotide variantNM_016201.4(AMOTL2):c.1185A>C (p.Arg395Ser)not specified [RCV004332101]uncertain significance3134366284134366284Humanname
401899071CV2786002single nucleotide variantNM_130847.3(AMOTL1):c.2336A>T (p.Asp779Val)not specified [RCV004359839]uncertain significance119486601694866016Humanname
401888119CV2791259single nucleotide variantNM_016201.4(AMOTL2):c.1258G>A (p.Val420Met)not specified [RCV004356891]uncertain significance3134365838134365838Humanname
405817313CV3269219single nucleotide variantNM_016201.4(AMOTL2):c.1429C>T (p.Arg477Cys)not specified [RCV004412298]uncertain significance3134361658134361658Humanname
405817325CV3269231single nucleotide variantNM_016201.4(AMOTL2):c.1657C>G (p.Arg553Gly)not specified [RCV004412310]uncertain significance3134360332134360332Humanname
405817338CV3269244single nucleotide variantNM_016201.4(AMOTL2):c.1820C>T (p.Pro607Leu)not specified [RCV004412323]uncertain significance3134360169134360169Humanname
405817344CV3269250single nucleotide variantNM_016201.4(AMOTL2):c.1969G>T (p.Ala657Ser)not specified [RCV004412329]uncertain significance3134359418134359418Humanname
405817353CV3269259single nucleotide variantNM_016201.4(AMOTL2):c.2192C>T (p.Thr731Ile)not specified [RCV004412338]uncertain significance3134358632134358632Humanname
405817076CV3272840single nucleotide variantNM_130847.3(AMOTL1):c.1150A>G (p.Thr384Ala)not specified [RCV004412085]uncertain significance119482155894821558Humanname
405817116CV3272880single nucleotide variantNM_130847.3(AMOTL1):c.1777A>T (p.Ile593Phe)not specified [RCV004412125]uncertain significance119485024294850242Humanname
405817121CV3272885single nucleotide variantNM_130847.3(AMOTL1):c.1861T>G (p.Ser621Ala)not specified [RCV004412130]uncertain significance119485399994853999Humanname
405817153CV3272893single nucleotide variantNM_130847.3(AMOTL1):c.1963C>G (p.Pro655Ala)not specified [RCV004412138]uncertain significance119485954394859543Humanname
405817158CV3272898single nucleotide variantNM_130847.3(AMOTL1):c.1973T>C (p.Met658Thr)not specified [RCV004412143]uncertain significance119485955394859553Humanname
405817162CV3272902single nucleotide variantNM_130847.3(AMOTL1):c.2011C>T (p.Arg671Trp)not specified [RCV004412147]uncertain significance119485959194859591Humanname
405817173CV3272913single nucleotide variantNM_130847.3(AMOTL1):c.2257T>C (p.Tyr753His)not specified [RCV004412158]uncertain significance119486485694864856Humanname
405817176CV3272916single nucleotide variantNM_130847.3(AMOTL1):c.2285T>A (p.Ile762Asn)not specified [RCV004412161]uncertain significance119486596594865965Humanname
405817203CV3272943single nucleotide variantNM_130847.3(AMOTL1):c.2542C>T (p.Pro848Ser)not specified [RCV004412188]uncertain significance119486925194869251Humanname
405817207CV3272947single nucleotide variantNM_130847.3(AMOTL1):c.2671G>T (p.Ala891Ser)not specified [RCV004412192]uncertain significance119486938094869380Humanname
405817273CV3272949single nucleotide variantNM_130847.3(AMOTL1):c.2672C>T (p.Ala891Val)not specified [RCV004412194]uncertain significance119486938194869381Humanname
405817272CV3272950single nucleotide variantNM_130847.3(AMOTL1):c.2692C>T (p.Arg898Trp)not specified [RCV004412195]uncertain significance119486940194869401Humanname
405817268CV3272954single nucleotide variantNM_130847.3(AMOTL1):c.2738C>T (p.Ala913Val)not specified [RCV004412199]uncertain significance119486944794869447Humanname
405817261CV3272961single nucleotide variantNM_130847.3(AMOTL1):c.2833G>A (p.Glu945Lys)not specified [RCV004412206]uncertain significance119487075794870757Humanname
405817258CV3272964single nucleotide variantNM_130847.3(AMOTL1):c.2839C>T (p.Pro947Ser)not specified [RCV004412209]uncertain significance119487076394870763Humanname
405817291CV3273031single nucleotide variantNM_016201.4(AMOTL2):c.1333C>G (p.Arg445Gly)not specified [RCV004412276]uncertain significance3134361754134361754Humanname
407494204CV3446620single nucleotide variantNM_130847.3(AMOTL1):c.2686C>T (p.Arg896Cys)not specified [RCV004642937]uncertain significance119486939594869395Humanname
407494241CV3446631single nucleotide variantNM_130847.3(AMOTL1):c.1484C>T (p.Ser495Leu)not specified [RCV004642946]uncertain significance119483012094830120Humanname
407494278CV3446642single nucleotide variantNM_130847.3(AMOTL1):c.2161C>T (p.Arg721Trp)not specified [RCV004642955]uncertain significance119486476094864760Humanname
407469151CV3446664single nucleotide variantNM_130847.3(AMOTL1):c.1042C>A (p.Pro348Thr)not specified [RCV004636528]uncertain significance119480023294800232Humanname
407494392CV3456762single nucleotide variantNM_130847.3(AMOTL1):c.1301C>G (p.Ala434Gly)not specified [RCV004642982]uncertain significance119482170994821709Humanname
407469172CV3456774single nucleotide variantNM_130847.3(AMOTL1):c.2361C>A (p.Ser787Arg)not specified [RCV004636535]uncertain significance119486604194866041Humanname
407494473CV3456784single nucleotide variantNM_130847.3(AMOTL1):c.2392G>T (p.Ala798Ser)not specified [RCV004642999]uncertain significance119486607294866072Humanname
407469190CV3456795single nucleotide variantNM_130847.3(AMOTL1):c.2738C>A (p.Ala913Glu)not specified [RCV004636541]uncertain significance119486944794869447Humanname
407494561CV3456816single nucleotide variantNM_016201.4(AMOTL2):c.1130G>A (p.Arg377Gln)not specified [RCV004643020]uncertain significance3134366339134366339Humanname
407494591CV3456825single nucleotide variantNM_016201.4(AMOTL2):c.1207C>A (p.Arg403Ser)not specified [RCV004643028]uncertain significance3134365889134365889Humanname
596931100CV3529943single nucleotide variantNM_130847.3(AMOTL1):c.1561C>T (p.Arg521Ter)not provided [RCV004780993]uncertain significance119483145494831454Humanname
596926696CV3530873single nucleotide variantNM_130847.3(AMOTL1):c.1570A>G (p.Thr524Ala)not provided [RCV004778458]uncertain significance119483146394831463Humanname
596930027CV3531310single nucleotide variantNM_130847.3(AMOTL1):c.2863C>T (p.Leu955Phe)not provided [RCV004779884]uncertain significance119487078794870787Humanname
597624879CV3692506single nucleotide variantNM_016201.4(AMOTL2):c.2002G>T (p.Val668Leu)not specified [RCV004937924]uncertain significance3134359385134359385Humanname
597795014CV3695674single nucleotide variantNM_130847.3(AMOTL1):c.1774G>A (p.Val592Ile)not specified [RCV004934705]uncertain significance119485023994850239Humanname
597624661CV3695693single nucleotide variantNM_130847.3(AMOTL1):c.1422A>C (p.Lys474Asn)not specified [RCV004937682]uncertain significance119483005894830058Humanname
597624670CV3695704single nucleotide variantNM_130847.3(AMOTL1):c.1399G>A (p.Asp467Asn)not specified [RCV004937691]uncertain significance119482180794821807Humanname
597624687CV3695724single nucleotide variantNM_130847.3(AMOTL1):c.2563T>C (p.Ser855Pro)not specified [RCV004937708]uncertain significance119486927294869272Humanname
597624706CV3695746single nucleotide variantNM_130847.3(AMOTL1):c.2310G>T (p.Lys770Asn)not specified [RCV004937727]uncertain significance119486599094865990Humanname
597624711CV3695753single nucleotide variantNM_130847.3(AMOTL1):c.1034T>C (p.Met345Thr)not specified [RCV004937732]uncertain significance119480022494800224Humanname
597795046CV3695762single nucleotide variantNM_130847.3(AMOTL1):c.1088G>C (p.Arg363Pro)not specified [RCV004934716]uncertain significance119480027894800278Humanname
597795054CV3695771single nucleotide variantNM_130847.3(AMOTL1):c.2416C>T (p.Arg806Cys)not specified [RCV004934719]uncertain significance119486609694866096Humanname
597624732CV3695781single nucleotide variantNM_130847.3(AMOTL1):c.2560C>G (p.Leu854Val)not specified [RCV004937753]uncertain significance119486926994869269Humanname
597624733CV3695791single nucleotide variantNM_130847.3(AMOTL1):c.1184C>T (p.Thr395Ile)not specified [RCV004937754]uncertain significance119482159294821592Humanname
597624734CV3695800single nucleotide variantNM_130847.3(AMOTL1):c.1459G>A (p.Val487Ile)not specified [RCV004937755]uncertain significance119483009594830095Humanname
597624795CV3695810single nucleotide variantNM_130847.3(AMOTL1):c.1787A>C (p.Glu596Ala)not specified [RCV004937762]uncertain significance119485025294850252Humanname
597624781CV3695831single nucleotide variantNM_016201.4(AMOTL2):c.1799G>A (p.Arg600Gln)not specified [RCV004937776]uncertain significance3134360190134360190Humanname
597624743CV3695850single nucleotide variantNM_016201.4(AMOTL2):c.1357C>G (p.Arg453Gly)not specified [RCV004937788]uncertain significance3134361730134361730Humanname
597624801CV3695889single nucleotide variantNM_016201.4(AMOTL2):c.1839G>C (p.Glu613Asp)not specified [RCV004937822]uncertain significance3134360150134360150Humanname
597624840CV3695936single nucleotide variantNM_016201.4(AMOTL2):c.2128C>T (p.Pro710Ser)not specified [RCV004937861]uncertain significance3134358696134358696Humanname
597624848CV3695944single nucleotide variantNM_016201.4(AMOTL2):c.1016C>T (p.Ala339Val)not specified [RCV004937869]uncertain significance3134367522134367522Humanname
597624948CV3695980single nucleotide variantNM_016201.4(AMOTL2):c.1358G>A (p.Arg453Gln)not specified [RCV004937895]uncertain significance3134361729134361729Humanname
598233301CV3893352single nucleotide variantNM_130847.3(AMOTL1):c.1913A>G (p.Glu638Gly)not provided [RCV005256085]uncertain significance119485405194854051Humanname
598211243CV3972592single nucleotide variantNM_130847.3(AMOTL1):c.2483G>A (p.Ser828Asn)not specified [RCV005358650]uncertain significance119486616394866163Humanname
598195548CV3972604single nucleotide variantNM_130847.3(AMOTL1):c.2807G>A (p.Arg936Gln)not specified [RCV005355011]uncertain significance119487073194870731Humanname
598195573CV3972614single nucleotide variantNM_130847.3(AMOTL1):c.2816G>A (p.Ser939Asn)not specified [RCV005355016]uncertain significance119487074094870740Humanname
598170929CV3972624single nucleotide variantNM_130847.3(AMOTL1):c.2120C>T (p.Thr707Ile)not specified [RCV005370463]uncertain significance119485970094859700Humanname
598170949CV3972634single nucleotide variantNM_130847.3(AMOTL1):c.2075T>C (p.Leu692Pro)not specified [RCV005370469]uncertain significance119485965594859655Humanname
598170968CV3972643single nucleotide variantNM_130847.3(AMOTL1):c.2311G>T (p.Val771Phe)not specified [RCV005370474]uncertain significance119486599194865991Humanname
598195638CV3972652single nucleotide variantNM_130847.3(AMOTL1):c.1496C>G (p.Ala499Gly)not specified [RCV005355030]uncertain significance119483013294830132Humanname
598171015CV3972663single nucleotide variantNM_016201.4(AMOTL2):c.1336G>A (p.Gly446Ser)not specified [RCV005370485]uncertain significance3134361751134361751Humanname
598195705CV3972680single nucleotide variantNM_016201.4(AMOTL2):c.1174C>T (p.Arg392Trp)not specified [RCV005355046]uncertain significance3134366295134366295Humanname
598195743CV3972697single nucleotide variantNM_016201.4(AMOTL2):c.1943A>G (p.Gln648Arg)not specified [RCV005355053]uncertain significance3134359444134359444Humanname
598195776CV3972728single nucleotide variantNM_016201.4(AMOTL2):c.1538G>A (p.Arg513His)not specified [RCV005355060]uncertain significance3134361549134361549Humanname
598171180CV3972742single nucleotide variantNM_016201.4(AMOTL2):c.1559C>A (p.Ala520Asp)not specified [RCV005370527]uncertain significance3134361528134361528Humanname
598195824CV3972751single nucleotide variantNM_016201.4(AMOTL2):c.1303G>C (p.Glu435Gln)not specified [RCV005355069]uncertain significance3134361784134361784Humanname
616938132CV4013397single nucleotide variantNM_130847.3(AMOTL1):c.1735G>A (p.Glu579Lys)CRANIOFACIOCARDIOHEPATIC SYNDROME [RCV005410861]pathogenic119485020094850200Human1name
15156803CV697851single nucleotide variantNM_016201.4(AMOTL2):c.1559C>T (p.Ala520Val)not provided [RCV000946767]benign3134361528134361528Humanname
401912600CV2824947deletionNM_016201.4(AMOTL2):c.1663_1665del (p.Lys555del)not provided [RCV003427396]uncertain significance3134360324134360326Humanname