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208 records found for search term Add3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
152086645CV1589819duplicationNM_016824.5(ADD3):c.487-5dupnot provided [RCV002193719]benign10110117328110117329Humanname
155993193CV2095596single nucleotide variantNM_016824.5(ADD3):c.718-3T>Cnot provided [RCV002908260]uncertain significance10110119208110119208Humanname
402492414CV3008309single nucleotide variantNM_016824.5(ADD3):c.961-7A>Tnot provided [RCV003687663]likely benign10110122103110122103Humanname
127294036CV1156352single nucleotide variantNM_016824.5(ADD3):c.717+16T>Gnot provided [RCV001511589]benign10110118752110118752Humanname
151852504CV1378909single nucleotide variantNM_016824.5(ADD3):c.1828+4C>Tnot provided [RCV001882931]uncertain significance10110132404110132404Humanname
152100958CV1546890single nucleotide variantNM_016824.5(ADD3):c.1828+8A>Gnot provided [RCV002151805]likely benign10110132408110132408Humanname
152081374CV1554657single nucleotide variantNM_016824.5(ADD3):c.1829-5C>Tnot provided [RCV002193061]likely benign10110133321110133321Humanname
152046705CV1556298single nucleotide variantNM_016824.5(ADD3):c.960+18C>Gnot provided [RCV002207006]likely benign10110119582110119582Humanname
152155888CV1585881single nucleotide variantNM_016824.5(ADD3):c.196-17A>Gnot provided [RCV002140162]likely benign10110112760110112760Humanname
152146355CV1599983single nucleotide variantNM_016824.5(ADD3):c.487-11T>Gnot provided [RCV002138857]likely benign10110117331110117331Humanname
156440237CV1946600single nucleotide variantNM_016824.5(ADD3):c.1733-1G>Anot provided [RCV003110268]|not specified [RCV003388168]uncertain significance10110132304110132304Humanname
156201123CV1978245single nucleotide variantNM_016824.5(ADD3):c.961-13C>Anot provided [RCV002625730]likely benign10110122097110122097Humanname
156111776CV2008673deletionNM_016824.5(ADD3):c.335-11delnot provided [RCV002695698]benign10110116243110116243Humanname
156333732CV2112919single nucleotide variantNM_016824.5(ADD3):c.1829-4G>AADD3-related disorder [RCV003916638]|not provided [RCV002938509]likely benign10110133322110133322Human1name , trait , alternate_id
155910170CV2156932single nucleotide variantNM_016824.5(ADD3):c.195+18G>Anot provided [RCV003012194]likely benign10110100866110100866Humanname
405110766CV2942090single nucleotide variantNM_016824.5(ADD3):c.487-14G>Anot provided [RCV003666277]likely benign10110117328110117328Humanname
405191732CV3118060single nucleotide variantNM_016824.5(ADD3):c.1829-6T>Cnot provided [RCV003820970]likely benign10110133320110133320Humanname
597913517CV3817431single nucleotide variantNM_016824.5(ADD3):c.862-14G>Tnot provided [RCV005154633]likely benign10110119452110119452Humanname
15147845CV759865single nucleotide variantNM_016824.5(ADD3):c.1401+8A>Gnot provided [RCV000922987]likely benign10110124282110124282Humanname
15197690CV759870single nucleotide variantNM_016824.5(ADD3):c.1828+6C>Tnot provided [RCV000912044]likely benign10110132406110132406Humanname
152165016CV1543672deletionNM_016824.5(ADD3):c.1733-12delnot provided [RCV002123926]likely benign10110132293110132293Humanname
152030583CV1632224single nucleotide variantNM_016824.5(ADD3):c.1829-17A>Cnot provided [RCV002124363]likely benign10110133309110133309Humanname
152075842CV1653061single nucleotide variantNM_016824.5(ADD3):c.1144-17G>Tnot provided [RCV002148683]likely benign10110124000110124000Humanname
405085825CV2862151single nucleotide variantNM_016824.5(ADD3):c.1401+17T>Cnot provided [RCV003549558]likely benign10110124291110124291Humanname
405149592CV3123261single nucleotide variantNM_016824.5(ADD3):c.1608+14G>Cnot provided [RCV003817494]likely benign10110126517110126517Humanname
405030507CV3129981single nucleotide variantNM_016824.5(ADD3):c.1609-14T>Gnot provided [RCV003830580]likely benign10110130349110130349Humanname
597951949CV3756553single nucleotide variantNM_016824.5(ADD3):c.1521+12T>Cnot provided [RCV005079610]likely benign10110125957110125957Humanname
152072808CV1556452single nucleotide variantNM_016824.5(ADD3):c.24C>T (p.Gly8=)not provided [RCV002111688]likely benign10110100677110100677Humanname
402470229CV3171096single nucleotide variantNM_016824.5(ADD3):c.15C>T (p.Ala5=)not provided [RCV003874059]likely benign10110100668110100668Humanname
151775569CV1463627single nucleotide variantNM_016824.5(ADD3):c.8C>T (p.Ser3Leu)not provided [RCV001896760]|not specified [RCV004041764]uncertain significance10110100661110100661Humanname
405246154CV2965724single nucleotide variantNM_016824.5(ADD3):c.42T>G (p.Pro14=)not provided [RCV003685357]likely benign10110100695110100695Humanname
151863354CV1365240single nucleotide variantNM_016824.5(ADD3):c.22G>A (p.Gly8Ser)not provided [RCV002018042]uncertain significance10110100675110100675Humanname
151771500CV1410905single nucleotide variantNM_016824.5(ADD3):c.25G>A (p.Val9Met)not provided [RCV001971226]uncertain significance10110100678110100678Humanname
152069027CV1562210single nucleotide variantNM_016824.5(ADD3):c.162G>A (p.Gln54=)not provided [RCV002169050]likely benign10110100815110100815Humanname
152035100CV1584803single nucleotide variantNM_016824.5(ADD3):c.294C>T (p.Ile98=)not provided [RCV002125201]likely benign10110112875110112875Humanname
152157483CV1629887single nucleotide variantNM_016824.5(ADD3):c.213G>A (p.Leu71=)not provided [RCV002202844]likely benign10110112794110112794Humanname
155945161CV2130171single nucleotide variantNM_016824.5(ADD3):c.207A>G (p.Glu69=)not provided [RCV002971538]likely benign10110112788110112788Humanname
155939350CV2142800single nucleotide variantNM_016824.5(ADD3):c.21A>C (p.Gln7His)not provided [RCV002993948]uncertain significance10110100674110100674Humanname
401894354CV2780784single nucleotide variantNM_016824.5(ADD3):c.17G>T (p.Ser6Ile)not specified [RCV004352107]uncertain significance10110100670110100670Humanname
405200993CV3041326single nucleotide variantNM_016824.5(ADD3):c.132T>C (p.Asp44=)not provided [RCV003707439]likely benign10110100785110100785Humanname
598245917CV3941018single nucleotide variantNM_016824.5(ADD3):c.20A>G (p.Gln7Arg)not specified [RCV005322247]uncertain significance10110100673110100673Humanname
15199164CV751952single nucleotide variantNM_016824.5(ADD3):c.147C>T (p.Phe49=)not provided [RCV000912468]likely benign10110100800110100800Humanname
127312744CV1156353microsatelliteNM_016824.5(ADD3):c.1521+15_1521+17delnot provided [RCV001519047]benign10110125957110125959Humanname
151893111CV1337788single nucleotide variantNM_016824.5(ADD3):c.79C>T (p.Arg27Cys)not provided [RCV001944769]|not specified [RCV004040361]uncertain significance10110100732110100732Humanname
151801227CV1354173single nucleotide variantNM_016824.5(ADD3):c.86A>G (p.Asn29Ser)not provided [RCV001867145]uncertain significance10110100739110100739Humanname
152112169CV1558913single nucleotide variantNM_016824.5(ADD3):c.453T>C (p.Phe151=)not provided [RCV002134623]likely benign10110116377110116377Humanname
152029747CV1568641single nucleotide variantNM_016824.5(ADD3):c.633A>G (p.Thr211=)not provided [RCV002186264]likely benign10110118652110118652Humanname
152144562CV1582537single nucleotide variantNM_016824.5(ADD3):c.468G>A (p.Leu156=)not provided [RCV002201038]likely benign10110116392110116392Humanname
152046158CV1591191single nucleotide variantNM_016824.5(ADD3):c.537A>G (p.Leu179=)not provided [RCV002188848]likely benign10110117392110117392Humanname
152036767CV1609900single nucleotide variantNM_016824.5(ADD3):c.672T>G (p.Pro224=)not provided [RCV002165076]likely benign10110118691110118691Humanname
152100631CV1645621single nucleotide variantNM_016824.5(ADD3):c.609T>C (p.Ser203=)not provided [RCV002173051]likely benign10110118628110118628Humanname
152160010CV1649983single nucleotide variantNM_016824.5(ADD3):c.747A>C (p.Pro249=)not provided [RCV002159473]likely benign10110119240110119240Humanname
155910625CV2141566single nucleotide variantNM_016824.5(ADD3):c.312G>A (p.Ser104=)not provided [RCV002968021]likely benign10110112893110112893Humanname
156170147CV2197871single nucleotide variantNM_016824.5(ADD3):c.70T>G (p.Tyr24Asp)not specified [RCV004077103]uncertain significance10110100723110100723Humanname
597871926CV3849406single nucleotide variantNM_016824.5(ADD3):c.441T>C (p.Leu147=)not provided [RCV005197587]likely benign10110116365110116365Humanname
15197239CV723760single nucleotide variantNM_016824.5(ADD3):c.489A>G (p.Val163=)not provided [RCV000890002]benign|likely benign10110117344110117344Humanname
15104665CV751953single nucleotide variantNM_016824.5(ADD3):c.303T>C (p.Asn101=)not provided [RCV000915394]likely benign10110112884110112884Humanname
151825911CV1418412single nucleotide variantNM_016824.5(ADD3):c.282T>G (p.Ile94Met)not provided [RCV001920016]uncertain significance10110112863110112863Humanname
151826779CV1426071single nucleotide variantNM_016824.5(ADD3):c.1050G>A (p.Ala350=)not provided [RCV001993309]likely benign10110122199110122199Humanname
151815332CV1485911single nucleotide variantNM_016824.5(ADD3):c.245G>A (p.Gly82Asp)not provided [RCV002049251]|not specified [RCV004038902]uncertain significance10110112826110112826Humanname
151879912CV1506376single nucleotide variantNM_016824.5(ADD3):c.191G>T (p.Ser64Ile)not provided [RCV001886319]uncertain significance10110100844110100844Humanname
152117579CV1522130single nucleotide variantNM_016824.5(ADD3):c.1257A>G (p.Thr419=)not provided [RCV002081102]likely benign10110124130110124130Humanname
152092612CV1545103single nucleotide variantNM_016824.5(ADD3):c.1449C>A (p.Ile483=)not provided [RCV002172028]likely benign10110125873110125873Humanname
152083667CV1565327single nucleotide variantNM_016824.5(ADD3):c.1332T>C (p.Asn444=)not provided [RCV002093183]likely benign10110124205110124205Humanname
152137216CV1580380single nucleotide variantNM_016824.5(ADD3):c.1023T>C (p.Tyr341=)not provided [RCV002156292]likely benign10110122172110122172Humanname
152125289CV1630157single nucleotide variantNM_016824.5(ADD3):c.1392C>T (p.Thr464=)not provided [RCV002154785]likely benign10110124265110124265Humanname
156408935CV1922118single nucleotide variantNM_016824.5(ADD3):c.2004C>A (p.Ile668=)not provided [RCV002607402]benign|likely benign10110133501110133501Humanname
156440514CV1943562single nucleotide variantNM_016824.5(ADD3):c.121A>G (p.Met41Val)not provided [RCV003110549]uncertain significance10110100774110100774Humanname
156300886CV1955561single nucleotide variantNM_016824.5(ADD3):c.189A>C (p.Gln63His)not provided [RCV002578222]|not specified [RCV004064531]uncertain significance10110100842110100842Humanname
156260259CV1977509single nucleotide variantNM_016824.5(ADD3):c.1929T>C (p.Ala643=)not provided [RCV002597757]likely benign10110133426110133426Humanname
156246437CV1991945single nucleotide variantNM_016824.5(ADD3):c.1542T>C (p.Tyr514=)not provided [RCV002645753]likely benign10110126437110126437Humanname
156040494CV2143423single nucleotide variantNM_016824.5(ADD3):c.1401G>A (p.Thr467=)not provided [RCV002999500]uncertain significance10110124274110124274Humanname
329397969CV2467121single nucleotide variantNM_016824.5(ADD3):c.170G>A (p.Arg57Gln)not specified [RCV004282851]uncertain significance10110100823110100823Humanname
402480795CV2864090single nucleotide variantNM_016824.5(ADD3):c.2004C>T (p.Ile668=)not provided [RCV003544003]likely benign10110133501110133501Humanname
402496246CV2942814single nucleotide variantNM_016824.5(ADD3):c.1884A>G (p.Val628=)not provided [RCV003661159]likely benign10110133381110133381Humanname
405245550CV3051603single nucleotide variantNM_016824.5(ADD3):c.1809T>C (p.Asn603=)not provided [RCV003720337]likely benign10110132381110132381Humanname
405116156CV3134199single nucleotide variantNM_016824.5(ADD3):c.1761C>T (p.Asp587=)not provided [RCV003836801]likely benign10110132333110132333Humanname
405190569CV3156752single nucleotide variantNM_016824.5(ADD3):c.256A>G (p.Thr86Ala)not provided [RCV003859630]|not specified [RCV004369501]uncertain significance10110112837110112837Humanname
402487037CV3171382single nucleotide variantNM_016824.5(ADD3):c.1974C>T (p.Ile658=)ADD3-related disorder [RCV003956626]|not provided [RCV003876409]likely benign10110133471110133471Human1name , trait , alternate_id
405283088CV3218483single nucleotide variantNM_016824.5(ADD3):c.1560A>G (p.Gly520=)ADD3-related disorder [RCV003957277]likely benign10110126455110126455Humanname , trait , alternate_id
407471930CV3426217single nucleotide variantNM_016824.5(ADD3):c.268G>A (p.Ala90Thr)not specified [RCV004615825]uncertain significance10110112849110112849Humanname
407460022CV3496900single nucleotide variantNM_016824.5(ADD3):c.133C>A (p.Leu45Ile)Cerebral palsy, spastic quadriplegic, 3 [RCV004698715]benign10110100786110100786Human1name
408373015CV3502174single nucleotide variantNM_016824.5(ADD3):c.253C>A (p.Pro85Thr)not provided [RCV004725761]uncertain significance10110112834110112834Humanname
597804428CV3657253single nucleotide variantNM_016824.5(ADD3):c.137G>A (p.Arg46Gln)not provided [RCV005110144]|not specified [RCV004907974]uncertain significance10110100790110100790Humanname
597957187CV3814284single nucleotide variantNM_016824.5(ADD3):c.1122T>C (p.Leu374=)not provided [RCV005162615]likely benign10110122271110122271Humanname
597842934CV3831116single nucleotide variantNM_016824.5(ADD3):c.1950C>T (p.Ser650=)not provided [RCV005172497]likely benign10110133447110133447Humanname
15148657CV737338single nucleotide variantNM_016824.5(ADD3):c.1878C>T (p.Val626=)not provided [RCV000900766]likely benign10110133375110133375Humanname
15137054CV751955single nucleotide variantNM_016824.5(ADD3):c.1419C>T (p.Asp473=)not provided [RCV000921106]likely benign10110125843110125843Humanname
15156912CV751956single nucleotide variantNM_016824.5(ADD3):c.1707C>T (p.Ile569=)not provided [RCV000924758]likely benign10110130461110130461Humanname
15100675CV751957single nucleotide variantNM_016824.5(ADD3):c.1848C>T (p.Ser616=)ADD3-related disorder [RCV003950808]|not provided [RCV000914647]likely benign10110133345110133345Human1name , trait , alternate_id
15195070CV751958single nucleotide variantNM_016824.5(ADD3):c.2118C>A (p.Ala706=)not provided [RCV000911308]likely benign10110133615110133615Humanname
15110579CV767624single nucleotide variantNM_016824.5(ADD3):c.1842G>A (p.Leu614=)not provided [RCV000938580]likely benign10110133339110133339Humanname
15138879CV783533single nucleotide variantNM_016824.5(ADD3):c.1386C>T (p.Pro462=)not provided [RCV000982543]likely benign10110124259110124259Humanname
15115271CV783534single nucleotide variantNM_016824.5(ADD3):c.1803G>A (p.Pro601=)not provided [RCV000978371]likely benign10110132375110132375Humanname
8626770CV81914single nucleotide variantNM_001121.2(ADD3):c.1995G>A (p.Lys665=)Malignant melanoma [RCV000061993]not provided10110133588110133588Humanname
126738490CV1017255single nucleotide variantNM_016824.5(ADD3):c.995A>G (p.Asn332Ser)Cerebral palsy, spastic quadriplegic, 3 [RCV001328970]|not provided [RCV001863195]uncertain significance10110122144110122144Human1name
151863622CV1339024single nucleotide variantNM_016824.5(ADD3):c.340G>T (p.Gly114Cys)not provided [RCV001997459]|not specified [RCV004043912]uncertain significance10110116264110116264Humanname
151780531CV1341772single nucleotide variantNM_016824.5(ADD3):c.500A>G (p.Lys167Arg)not provided [RCV001897196]uncertain significance10110117355110117355Humanname
151710738CV1377093single nucleotide variantNM_016824.5(ADD3):c.608G>A (p.Ser203Asn)not provided [RCV001889328]uncertain significance10110118627110118627Humanname
151859521CV1389641single nucleotide variantNM_016824.5(ADD3):c.664A>G (p.Thr222Ala)not provided [RCV001905101]uncertain significance10110118683110118683Humanname
151871553CV1436946single nucleotide variantNM_016824.5(ADD3):c.413G>T (p.Arg138Leu)not provided [RCV002035734]uncertain significance10110116337110116337Humanname
151781419CV1439078single nucleotide variantNM_016824.5(ADD3):c.776A>G (p.Asp259Gly)not provided [RCV002009779]|not specified [RCV004042394]uncertain significance10110119269110119269Humanname
151781724CV1446405single nucleotide variantNM_016824.5(ADD3):c.410C>T (p.Thr137Ile)not provided [RCV001989199]|not specified [RCV004045362]uncertain significance10110116334110116334Humanname
151740268CV1474895single nucleotide variantNM_016824.5(ADD3):c.419A>T (p.Lys140Ile)not provided [RCV001968076]uncertain significance10110116343110116343Humanname
151713637CV1476636single nucleotide variantNM_016824.5(ADD3):c.635G>A (p.Gly212Glu)not provided [RCV001908516]uncertain significance10110118654110118654Humanname
151767240CV1492932single nucleotide variantNM_016824.5(ADD3):c.311C>T (p.Ser104Leu)not provided [RCV001914629]|not specified [RCV004041133]uncertain significance10110112892110112892Humanname
151858064CV1503444single nucleotide variantNM_016824.5(ADD3):c.637T>G (p.Phe213Val)not provided [RCV001996779]uncertain significance10110118656110118656Humanname
155721639CV1773492single nucleotide variantNM_016824.5(ADD3):c.331C>T (p.Leu111Phe)not provided [RCV002301317]uncertain significance10110112912110112912Humanname
155723531CV1774349single nucleotide variantNM_016824.5(ADD3):c.553A>G (p.Thr185Ala)not provided [RCV002296792]uncertain significance10110117408110117408Humanname
156449690CV1942021single nucleotide variantNM_016824.5(ADD3):c.655A>G (p.Ile219Val)not provided [RCV003121816]uncertain significance10110118674110118674Humanname
156255029CV1981767single nucleotide variantNM_016824.5(ADD3):c.377A>G (p.Asp126Gly)not provided [RCV002646023]uncertain significance10110116301110116301Humanname
156389706CV1996122single nucleotide variantNM_016824.5(ADD3):c.934A>G (p.Asn312Asp)not provided [RCV002654259]|not specified [RCV004612229]uncertain significance10110119538110119538Humanname
156021257CV2043174single nucleotide variantNM_016824.5(ADD3):c.406C>T (p.Leu136Phe)not provided [RCV002780660]|not specified [RCV004612251]uncertain significance10110116330110116330Humanname
156340270CV2055332single nucleotide variantNM_016824.5(ADD3):c.854G>A (p.Ser285Asn)not provided [RCV002811160]uncertain significance10110119347110119347Humanname
156262933CV2059474single nucleotide variantNM_016824.5(ADD3):c.416G>C (p.Cys139Ser)not provided [RCV002806389]uncertain significance10110116340110116340Humanname
156300759CV2129482single nucleotide variantNM_016824.5(ADD3):c.791A>T (p.Asp264Val)not provided [RCV002962133]uncertain significance10110119284110119284Humanname
156103919CV2132421single nucleotide variantNM_016824.5(ADD3):c.572A>C (p.Lys191Thr)not provided [RCV003002320]uncertain significance10110118591110118591Humanname
156140231CV2137777single nucleotide variantNM_016824.5(ADD3):c.514A>T (p.Ile172Phe)not provided [RCV002982286]uncertain significance10110117369110117369Humanname
156333418CV2186600single nucleotide variantNM_016824.5(ADD3):c.592G>A (p.Val198Met)not provided [RCV003063827]uncertain significance10110118611110118611Humanname
156351674CV2323810single nucleotide variantNM_016824.5(ADD3):c.914A>G (p.Glu305Gly)not specified [RCV004176351]uncertain significance10110119518110119518Humanname
156287036CV2370450single nucleotide variantNM_016824.5(ADD3):c.781G>T (p.Ala261Ser)not specified [RCV004215800]uncertain significance10110119274110119274Humanname
401783712CV2723870single nucleotide variantNM_016824.5(ADD3):c.416G>A (p.Cys139Tyr)not specified [RCV004326008]uncertain significance10110116340110116340Humanname
401883815CV2764628single nucleotide variantNM_016824.5(ADD3):c.379A>G (p.Thr127Ala)not specified [RCV004341003]uncertain significance10110116303110116303Humanname
401912751CV2829975single nucleotide variantNM_016824.5(ADD3):c.533G>A (p.Gly178Asp)not provided [RCV003441189]uncertain significance10110117388110117388Humanname
405248147CV2984717single nucleotide variantNM_016824.5(ADD3):c.508G>T (p.Asp170Tyr)not provided [RCV003721024]uncertain significance10110117363110117363Humanname
405708126CV3240466single nucleotide variantNM_016824.5(ADD3):c.640A>G (p.Ser214Gly)not specified [RCV004376222]uncertain significance10110118659110118659Humanname
405708178CV3240473single nucleotide variantNM_016824.5(ADD3):c.719T>C (p.Val240Ala)not specified [RCV004376229]uncertain significance10110119212110119212Humanname
405708218CV3240479single nucleotide variantNM_016824.5(ADD3):c.776A>T (p.Asp259Val)Complex neurodevelopmental disorder with motor features [RCV005358091]|not specified [RCV004376235]uncertain significance10110119269110119269Human1name
405708276CV3240488single nucleotide variantNM_016824.5(ADD3):c.851C>G (p.Pro284Arg)not specified [RCV004376244]uncertain significance10110119344110119344Humanname
407471780CV3426177single nucleotide variantNM_016824.5(ADD3):c.688A>C (p.Ile230Leu)not specified [RCV004615785]uncertain significance10110118707110118707Humanname
407471832CV3426188single nucleotide variantNM_016824.5(ADD3):c.482T>C (p.Ile161Thr)not specified [RCV004615796]uncertain significance10110116406110116406Humanname
407471964CV3426225single nucleotide variantNM_016824.5(ADD3):c.505C>A (p.Gln169Lys)not specified [RCV004615833]uncertain significance10110117360110117360Humanname
12849529CV363829single nucleotide variantNM_016824.5(ADD3):c.304T>C (p.Ser102Pro)not provided [RCV000431423]benign|likely benign10110112885110112885Humanname
597804434CV3657287single nucleotide variantNM_016824.5(ADD3):c.352C>T (p.Pro118Ser)not specified [RCV004907977]uncertain significance10110116276110116276Humanname
597804448CV3657300single nucleotide variantNM_016824.5(ADD3):c.686T>C (p.Val229Ala)not specified [RCV004907984]uncertain significance10110118705110118705Humanname
598245778CV3941000single nucleotide variantNM_016824.5(ADD3):c.895C>G (p.Leu299Val)not specified [RCV005322229]uncertain significance10110119499110119499Humanname
598246002CV3941029single nucleotide variantNM_016824.5(ADD3):c.488T>G (p.Val163Gly)not specified [RCV005322258]uncertain significance10110117343110117343Humanname
598256774CV3941071single nucleotide variantNM_016824.5(ADD3):c.325C>T (p.Pro109Ser)not specified [RCV005324273]uncertain significance10110112906110112906Humanname
21073577CV796355single nucleotide variantNM_016824.5(ADD3):c.725C>T (p.Ser242Phe)not provided [RCV000994499]uncertain significance10110119218110119218Humanname
40888398CV971441single nucleotide variantNM_016824.5(ADD3):c.313G>A (p.Gly105Ser)not provided [RCV001263332]uncertain significance10110112894110112894Humanname
126738484CV1017256single nucleotide variantNM_016824.5(ADD3):c.1372G>A (p.Gly458Arg)Cerebral palsy, spastic quadriplegic, 3 [RCV001328969]|not specified [RCV004035658]uncertain significance10110124245110124245Human1name
151754434CV1340083single nucleotide variantNM_016824.5(ADD3):c.1219C>G (p.Pro407Ala)not provided [RCV001894661]uncertain significance10110124092110124092Humanname
151772234CV1357137single nucleotide variantNM_016824.5(ADD3):c.1262C>T (p.Pro421Leu)not provided [RCV001864184]uncertain significance10110124135110124135Humanname
151851204CV1365828single nucleotide variantNM_016824.5(ADD3):c.1975G>C (p.Glu659Gln)not provided [RCV001922809]uncertain significance10110133472110133472Humanname
151849961CV1389684single nucleotide variantNM_016824.5(ADD3):c.1493C>T (p.Pro498Leu)not provided [RCV001937215]uncertain significance10110125917110125917Humanname
151719111CV1421817single nucleotide variantNM_016824.5(ADD3):c.1975G>A (p.Glu659Lys)not provided [RCV001909443]|not specified [RCV005320956]uncertain significance10110133472110133472Humanname
151804999CV1429819single nucleotide variantNM_016824.5(ADD3):c.1001A>G (p.His334Arg)not provided [RCV001974255]uncertain significance10110122150110122150Humanname
151849043CV1431160single nucleotide variantNM_016824.5(ADD3):c.1216A>G (p.Ile406Val)not provided [RCV001922520]|not specified [RCV004611964]uncertain significance10110124089110124089Humanname
151780249CV1442769single nucleotide variantNM_016824.5(ADD3):c.1934G>A (p.Arg645Gln)not provided [RCV002009671]|not specified [RCV004046238]uncertain significance10110133431110133431Humanname
151765825CV1447834single nucleotide variantNM_016824.5(ADD3):c.1024A>G (p.Lys342Glu)not provided [RCV001895843]|not specified [RCV004041317]uncertain significance10110122173110122173Humanname
151745109CV1450296single nucleotide variantNM_016824.5(ADD3):c.1712G>A (p.Arg571His)not provided [RCV001893682]|not specified [RCV004611966]uncertain significance10110130466110130466Humanname
151808499CV1476261single nucleotide variantNM_016824.5(ADD3):c.2010A>C (p.Glu670Asp)not provided [RCV001899722]uncertain significance10110133507110133507Humanname
151735643CV1490922single nucleotide variantNM_016824.5(ADD3):c.1241C>T (p.Ser414Phe)not provided [RCV001967582]uncertain significance10110124114110124114Humanname
151868402CV1492193single nucleotide variantNM_016824.5(ADD3):c.1804C>A (p.Gln602Lys)not provided [RCV002018628]uncertain significance10110132376110132376Humanname
152106024CV1560012single nucleotide variantNM_016824.5(ADD3):c.1771G>T (p.Val591Phe)not provided [RCV002133861]likely benign10110132343110132343Humanname
152096648CV1566021single nucleotide variantNM_016824.5(ADD3):c.1762G>A (p.Ala588Thr)not provided [RCV002094931]likely benign10110132334110132334Humanname
155665990CV1773355single nucleotide variantNM_016824.5(ADD3):c.2071A>G (p.Thr691Ala)not provided [RCV002297067]uncertain significance10110133568110133568Humanname
155691536CV1778023single nucleotide variantNM_016824.5(ADD3):c.2067C>G (p.Phe689Leu)not provided [RCV002299333]uncertain significance10110133564110133564Humanname
156045075CV1914783single nucleotide variantNM_016824.5(ADD3):c.1760A>G (p.Asp587Gly)not provided [RCV002620406]|not specified [RCV004907828]uncertain significance10110132332110132332Humanname
156187417CV1919375single nucleotide variantNM_016824.5(ADD3):c.1802C>T (p.Pro601Leu)not provided [RCV002595261]|not specified [RCV004907824]uncertain significance10110132374110132374Humanname
156440525CV1943575single nucleotide variantNM_016824.5(ADD3):c.1906C>T (p.His636Tyr)not provided [RCV003110560]|not specified [RCV004614396]uncertain significance10110133403110133403Humanname
156447030CV1944662single nucleotide variantNM_016824.5(ADD3):c.1300C>T (p.Arg434Cys)not provided [RCV003118556]uncertain significance10110124173110124173Humanname
156397267CV1965686single nucleotide variantNM_016824.5(ADD3):c.1064G>T (p.Gly355Val)not provided [RCV002584501]uncertain significance10110122213110122213Humanname
155903688CV1975834single nucleotide variantNM_016824.5(ADD3):c.1724G>A (p.Gly575Asp)not provided [RCV002613544]uncertain significance10110130478110130478Humanname
155909196CV2017514single nucleotide variantNM_016824.5(ADD3):c.1993C>T (p.Pro665Ser)not provided [RCV002681589]uncertain significance10110133490110133490Humanname
156021906CV2019408single nucleotide variantNM_016824.5(ADD3):c.1907A>C (p.His636Pro)not provided [RCV002691042]uncertain significance10110133404110133404Humanname
155910860CV2041333single nucleotide variantNM_016824.5(ADD3):c.2026G>A (p.Gly676Ser)not provided [RCV002771572]uncertain significance10110133523110133523Humanname
156006365CV2041969single nucleotide variantNM_016824.5(ADD3):c.1162G>C (p.Ala388Pro)not provided [RCV002756449]uncertain significance10110124035110124035Humanname
156118745CV2055203single nucleotide variantNM_016824.5(ADD3):c.1309A>G (p.Thr437Ala)not provided [RCV002825216]uncertain significance10110124182110124182Humanname
155976572CV2085230single nucleotide variantNM_016824.5(ADD3):c.1615C>T (p.Gln539Ter)not provided [RCV002863559]uncertain significance10110130369110130369Humanname
155979180CV2093918single nucleotide variantNM_016824.5(ADD3):c.1690G>A (p.Glu564Lys)not provided [RCV002881846]uncertain significance10110130444110130444Humanname
156057858CV2134011single nucleotide variantNM_016824.5(ADD3):c.1225A>C (p.Thr409Pro)not provided [RCV003000096]uncertain significance10110124098110124098Humanname
155977011CV2146614single nucleotide variantNM_016824.5(ADD3):c.1426A>G (p.Lys476Glu)not provided [RCV003016198]uncertain significance10110125850110125850Humanname
156149878CV2175271single nucleotide variantNM_016824.5(ADD3):c.2068C>T (p.Arg690Cys)not provided [RCV003040335]uncertain significance10110133565110133565Humanname
156105238CV2217545single nucleotide variantNM_016824.5(ADD3):c.1634A>G (p.His545Arg)not specified [RCV004090080]uncertain significance10110130388110130388Humanname
155936899CV2379924single nucleotide variantNM_016824.5(ADD3):c.1703C>T (p.Thr568Ile)not specified [RCV004222071]uncertain significance10110130457110130457Humanname
243053576CV2416345single nucleotide variantNM_016824.5(ADD3):c.1741C>G (p.Gln581Glu)not provided [RCV003149406]uncertain significance10110132313110132313Humanname
11351852CV243827single nucleotide variantNM_016824.5(ADD3):c.1100G>A (p.Gly367Asp)Cerebral palsy [RCV000234930]|Cerebral palsy, spastic quadriplegic, 3 [RCV000231295]|not provided [RCV005230176]pathogenic|likely pathogenic10110122249110122249Human3name
329379917CV2444074single nucleotide variantNM_016824.5(ADD3):c.1049C>T (p.Ala350Val)not specified [RCV004260821]likely benign10110122198110122198Humanname
329390987CV2447594single nucleotide variantNM_016824.5(ADD3):c.1160A>G (p.Tyr387Cys)not specified [RCV004258401]uncertain significance10110124033110124033Humanname
329396364CV2462554single nucleotide variantNM_016824.5(ADD3):c.1700G>C (p.Arg567Thr)not specified [RCV004278506]uncertain significance10110130454110130454Humanname
329384402CV2472846single nucleotide variantNM_016824.5(ADD3):c.1142T>C (p.Leu381Ser)not provided [RCV003214148]|not specified [RCV004907838]uncertain significance10110122291110122291Humanname
329395040CV2473010single nucleotide variantNM_016824.5(ADD3):c.1130C>T (p.Thr377Ile)not provided [RCV003218993]uncertain significance10110122279110122279Humanname
401747741CV2688998single nucleotide variantNM_016824.5(ADD3):c.2014C>G (p.Leu672Val)not specified [RCV004305779]uncertain significance10110133511110133511Humanname
401867767CV2767078single nucleotide variantNM_016824.5(ADD3):c.1750C>G (p.Leu584Val)not specified [RCV004347481]uncertain significance10110132322110132322Humanname
404986818CV2879104single nucleotide variantNM_016824.5(ADD3):c.1588G>A (p.Val530Ile)not provided [RCV003548198]uncertain significance10110126483110126483Humanname
405244608CV3050710single nucleotide variantNM_016824.5(ADD3):c.1078T>G (p.Ser360Ala)not provided [RCV003720035]uncertain significance10110122227110122227Humanname
405707740CV3240408single nucleotide variantNM_016824.5(ADD3):c.1175C>G (p.Pro392Arg)not specified [RCV004376164]uncertain significance10110124048110124048Humanname
405707890CV3240430single nucleotide variantNM_016824.5(ADD3):c.1763C>G (p.Ala588Gly)Complex neurodevelopmental disorder with motor features [RCV005358090]|not specified [RCV004376186]uncertain significance10110132335110132335Human1name
405707985CV3240444single nucleotide variantNM_016824.5(ADD3):c.2001A>C (p.Lys667Asn)not specified [RCV004376200]uncertain significance10110133498110133498Humanname
407427519CV3411925single nucleotide variantNM_016824.5(ADD3):c.1421C>T (p.Ser474Leu)not provided [RCV004592096]uncertain significance10110125845110125845Humanname
597804430CV3657259single nucleotide variantNM_016824.5(ADD3):c.1183C>G (p.Arg395Gly)not specified [RCV004907975]uncertain significance10110124056110124056Humanname
597804432CV3657269single nucleotide variantNM_016824.5(ADD3):c.1299G>C (p.Gln433His)not specified [RCV004907976]uncertain significance10110124172110124172Humanname
597804472CV3657311single nucleotide variantNM_016824.5(ADD3):c.1612A>C (p.Met538Leu)not specified [RCV004907995]uncertain significance10110130366110130366Humanname
598246068CV3941040single nucleotide variantNM_016824.5(ADD3):c.1954A>T (p.Ser652Cys)not specified [RCV005322267]uncertain significance10110133451110133451Humanname
598246140CV3941051single nucleotide variantNM_016824.5(ADD3):c.1969A>C (p.Asn657His)not specified [RCV005322278]uncertain significance10110133466110133466Humanname
598256728CV3941061single nucleotide variantNM_016824.5(ADD3):c.1270C>T (p.Pro424Ser)not specified [RCV005324263]uncertain significance10110124143110124143Humanname
15174844CV701167single nucleotide variantNM_016824.5(ADD3):c.1596T>A (p.Asp532Glu)not provided [RCV000950436]benign|conflicting interpretations of pathogenicity10110126491110126491Humanname
15198797CV701168single nucleotide variantNM_016824.5(ADD3):c.1736C>G (p.Ala579Gly)not provided [RCV000956863]benign10110132308110132308Humanname
15158817CV712149single nucleotide variantNM_016824.5(ADD3):c.1905G>C (p.Met635Ile)not provided [RCV000969595]benign10110133402110133402Humanname
15154753CV723761single nucleotide variantNM_016824.5(ADD3):c.1639C>T (p.Pro547Ser)ADD3-related disorder [RCV003975514]|not provided [RCV000880280]likely benign10110130393110130393Human1name , trait , alternate_id
15105100CV751954single nucleotide variantNM_016824.5(ADD3):c.1060G>C (p.Gly354Arg)not provided [RCV000915481]likely benign10110122209110122209Humanname
38597068CV801862single nucleotide variantNM_016824.5(ADD3):c.1607C>T (p.Ser536Phe)Microcephaly [RCV001252887]uncertain significance10110126502110126502Human2name
8626771CV81915single nucleotide variantNM_001121.2(ADD3):c.1998C>A (p.Asn666Lys)Malignant melanoma [RCV000061994]not provided10110133591110133591Humanname
13462546CV438723microsatelliteNM_016824.5(ADD3):c.2119TAAA[1] (p.Ter707=)not provided [RCV000514349]conflicting interpretations of pathogenicity|uncertain significance10110133616110133619Humanname
597648405CV3551716deletionNM_016824.5(ADD3):c.1676_1678del (p.Glu559del)not provided [RCV004820429]uncertain significance10110130428110130430Humanname
12849337CV364170deletionNM_016824.5(ADD3):c.2101_2103del (p.Lys701del)not provided [RCV000428169]uncertain significance10110133598110133600Humanname
405134074CV3051865inversionNM_016824.5(ADD3):c.1869_1870inv (p.Glu623_Val624delinsAspLeu)not provided [RCV003725086]likely benign10110133366110133367Humanname