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51 records found for search term Nipal3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405285570CV3209645single nucleotide variantNM_020448.5(NIPAL3):c.-328C>TNIPAL3-related disorder [RCV003959224]benign12441583424415834Humanname , trait , alternate_id
405279390CV3206884single nucleotide variantNM_020448.5(NIPAL3):c.1022-4T>ANIPAL3-related disorder [RCV003919443]benign12446898224468982Humanname , trait , alternate_id
405295378CV3204549single nucleotide variantNM_020448.5(NIPAL3):c.90C>T (p.Tyr30=)NIPAL3-related disorder [RCV003937325]benign12441963724419637Humanname , trait , alternate_id
405265276CV3198435single nucleotide variantNM_020448.5(NIPAL3):c.19G>A (p.Ala7Thr)NIPAL3-related disorder [RCV003897295]benign12441956624419566Humanname , trait , alternate_id
405705412CV3362065single nucleotide variantNM_020448.5(NIPAL3):c.18C>A (p.Ser6Arg)not specified [RCV004493053]uncertain significance12441956524419565Humanname
329397314CV2466047single nucleotide variantNM_020448.5(NIPAL3):c.95A>C (p.Glu32Ala)not specified [RCV004277940]uncertain significance12444017324440173Humanname
401935465CV2812480single nucleotide variantNM_020448.5(NIPAL3):c.381G>A (p.Pro127=)not provided [RCV003412918]likely benign12444523124445231Humanname
405282356CV3212782single nucleotide variantNM_020448.5(NIPAL3):c.666C>T (p.Ala222=)NIPAL3-related disorder [RCV003956933]likely benign12445616624456166Humanname , trait , alternate_id
597659216CV3556139single nucleotide variantNM_020448.5(NIPAL3):c.67G>A (p.Val23Ile)not specified [RCV004834724]uncertain significance12441961424419614Humanname
156106150CV2352589single nucleotide variantNM_020448.5(NIPAL3):c.283G>A (p.Ala95Thr)not specified [RCV004203082]uncertain significance12444217524442175Humanname
156019866CV2367023single nucleotide variantNM_020448.5(NIPAL3):c.221A>G (p.Lys74Arg)not specified [RCV004215474]uncertain significance12444211324442113Humanname
329354828CV2449096single nucleotide variantNM_020448.5(NIPAL3):c.178C>T (p.Arg60Cys)not specified [RCV004264160]uncertain significance12444207024442070Humanname
401750684CV2715728single nucleotide variantNM_020448.5(NIPAL3):c.268G>A (p.Val90Met)not specified [RCV004328872]uncertain significance12444216024442160Humanname
405266316CV3201957single nucleotide variantNM_020448.5(NIPAL3):c.1164C>T (p.Gly388=)NIPAL3-related disorder [RCV003911441]likely benign12446912824469128Humanname , trait , alternate_id
405262209CV3216780single nucleotide variantNM_020448.5(NIPAL3):c.1041T>C (p.Asp347=)NIPAL3-related disorder [RCV003944699]likely benign12446900524469005Humanname , trait , alternate_id
407508657CV3458518single nucleotide variantNM_020448.5(NIPAL3):c.182T>C (p.Leu61Pro)not specified [RCV004647188]uncertain significance12444207424442074Humanname
407508661CV3458519single nucleotide variantNM_020448.5(NIPAL3):c.136G>A (p.Val46Met)not specified [RCV004647189]uncertain significance12444021424440214Humanname
408366839CV3517784single nucleotide variantNM_020448.5(NIPAL3):c.1176C>T (p.Ala392=)NIPAL3-related disorder [RCV004757074]benign12446914024469140Humanname , trait , alternate_id
597659210CV3556138single nucleotide variantNM_020448.5(NIPAL3):c.253C>G (p.Leu85Val)not specified [RCV004834723]uncertain significance12444214524442145Humanname
40815418CV970684single nucleotide variantNM_020448.5(NIPAL3):c.205G>A (p.Ala69Thr)Neurodevelopmental disorder [RCV001262790]uncertain significance12444209724442097Human1name
156265234CV2198640single nucleotide variantNM_020448.5(NIPAL3):c.553A>G (p.Ile185Val)not specified [RCV004075654]likely benign12445342024453420Humanname
155952490CV2238978single nucleotide variantNM_020448.5(NIPAL3):c.380C>T (p.Pro127Leu)not specified [RCV004109869]uncertain significance12444523024445230Humanname
156107039CV2257326single nucleotide variantNM_020448.5(NIPAL3):c.490G>A (p.Gly164Ser)not specified [RCV004125427]uncertain significance12444957624449576Humanname
156329248CV2342379single nucleotide variantNM_020448.5(NIPAL3):c.889G>A (p.Gly297Arg)not specified [RCV004191945]uncertain significance12446050724460507Humanname
156172653CV2355094single nucleotide variantNM_020448.5(NIPAL3):c.913A>T (p.Met305Leu)not specified [RCV004198487]uncertain significance12446053124460531Humanname
155929190CV2356687single nucleotide variantNM_020448.5(NIPAL3):c.691A>G (p.Ile231Val)not specified [RCV004202044]uncertain significance12445619124456191Humanname
156223636CV2400068single nucleotide variantNM_020448.5(NIPAL3):c.702C>G (p.Asn234Lys)not specified [RCV004246983]uncertain significance12445620224456202Humanname
329396683CV2458934single nucleotide variantNM_020448.5(NIPAL3):c.523C>T (p.Pro175Ser)not specified [RCV004272431]uncertain significance12444960924449609Humanname
401738236CV2714374single nucleotide variantNM_020448.5(NIPAL3):c.329T>A (p.Val110Glu)not specified [RCV004317909]uncertain significance12444222124442221Humanname
401871080CV2766786single nucleotide variantNM_020448.5(NIPAL3):c.871T>G (p.Phe291Val)not specified [RCV004349174]uncertain significance12446048924460489Humanname
401890972CV2768870single nucleotide variantNM_020448.5(NIPAL3):c.742T>C (p.Cys248Arg)not specified [RCV004346981]uncertain significance12445624224456242Humanname
401879666CV2769679single nucleotide variantNM_020448.5(NIPAL3):c.563G>A (p.Cys188Tyr)not specified [RCV004351604]uncertain significance12445343024453430Humanname
405705433CV3362067single nucleotide variantNM_020448.5(NIPAL3):c.629C>T (p.Ala210Val)not specified [RCV004493055]uncertain significance12445349624453496Humanname
405705441CV3362068single nucleotide variantNM_020448.5(NIPAL3):c.709C>T (p.Leu237Phe)not specified [RCV004493056]uncertain significance12445620924456209Humanname
405705450CV3362069single nucleotide variantNM_020448.5(NIPAL3):c.802G>C (p.Asp268His)not specified [RCV004493057]uncertain significance12445891624458916Humanname
407497299CV3458516single nucleotide variantNM_020448.5(NIPAL3):c.887T>A (p.Ile296Asn)not specified [RCV004643712]uncertain significance12446050524460505Humanname
407508654CV3458517single nucleotide variantNM_020448.5(NIPAL3):c.538A>G (p.Met180Val)not specified [RCV004647187]uncertain significance12444962424449624Humanname
597659203CV3556137single nucleotide variantNM_020448.5(NIPAL3):c.595G>A (p.Ala199Thr)not specified [RCV004834722]uncertain significance12445346224453462Humanname
597659224CV3556140single nucleotide variantNM_020448.5(NIPAL3):c.304A>T (p.Ile102Phe)not specified [RCV004834725]uncertain significance12444219624442196Humanname
597659238CV3556142single nucleotide variantNM_020448.5(NIPAL3):c.877C>G (p.Leu293Val)not specified [RCV004834727]uncertain significance12446049524460495Humanname
598193437CV3994525single nucleotide variantNM_020448.5(NIPAL3):c.478G>A (p.Glu160Lys)not specified [RCV005374542]uncertain significance12444956424449564Humanname
598193443CV3994526single nucleotide variantNM_020448.5(NIPAL3):c.553A>T (p.Ile185Phe)not specified [RCV005374543]uncertain significance12445342024453420Humanname
598238961CV3994527single nucleotide variantNM_020448.5(NIPAL3):c.650T>C (p.Val217Ala)not specified [RCV005382837]uncertain significance12445615024456150Humanname
598238967CV3994528single nucleotide variantNM_020448.5(NIPAL3):c.397C>T (p.Arg133Cys)not specified [RCV005382838]uncertain significance12444948324449483Humanname
156326507CV2205776single nucleotide variantNM_020448.5(NIPAL3):c.1190A>G (p.Tyr397Cys)not specified [RCV004075824]uncertain significance12446915424469154Humanname
155978489CV2222694single nucleotide variantNM_020448.5(NIPAL3):c.1058A>G (p.Gln353Arg)not specified [RCV004101554]uncertain significance12446902224469022Humanname
156402094CV2367969single nucleotide variantNM_020448.5(NIPAL3):c.1054G>A (p.Val352Ile)not specified [RCV004223060]uncertain significance12446901824469018Humanname
329360383CV2442758single nucleotide variantNM_020448.5(NIPAL3):c.1186C>G (p.Pro396Ala)not specified [RCV004251593]uncertain significance12446915024469150Humanname
401920964CV2802160single nucleotide variantNM_020448.5(NIPAL3):c.1135A>G (p.Thr379Ala)NIPAL3-related disorder [RCV003402797]uncertain significance12446909924469099Humanname , trait , alternate_id
597659195CV3556136single nucleotide variantNM_020448.5(NIPAL3):c.1193G>A (p.Arg398Gln)not specified [RCV004834721]uncertain significance12446915724469157Humanname
597659231CV3556141single nucleotide variantNM_020448.5(NIPAL3):c.1186C>T (p.Pro396Ser)not specified [RCV004834726]uncertain significance12446915024469150Humanname