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Variants search result for Homo sapiens
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40 records found for search term Pi4k2b
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
402516763CV2936441microsatelliteNM_018323.4(PI4K2B):c.978+20TA[11]not provided [RCV003663007]likely benign42526061125260620Humanname
10411821CV205439single nucleotide variantNM_018323.4(PI4K2B):c.10C>A (p.Pro4Thr)Abnormality of neuronal migration [RCV000201382]benign42523417325234173Human1name
401730938CV2686794single nucleotide variantNM_018323.4(PI4K2B):c.20C>G (p.Pro7Arg)not specified [RCV004301975]uncertain significance42523418325234183Humanname
329375770CV2441115single nucleotide variantNM_018323.4(PI4K2B):c.49A>T (p.Ser17Cys)not specified [RCV004263519]uncertain significance42523421225234212Humanname
597739688CV3569342single nucleotide variantNM_018323.4(PI4K2B):c.53C>G (p.Pro18Arg)not specified [RCV004844336]uncertain significance42523421625234216Humanname
8631152CV86308single nucleotide variantNM_018323.3(PI4K2B):c.747C>G (p.Leu249=)Malignant melanoma [RCV000066399]not provided42525666525256665Humanname
156174272CV2194413single nucleotide variantNM_018323.4(PI4K2B):c.246C>G (p.Asp82Glu)not specified [RCV004079514]uncertain significance42523440925234409Humanname
156064213CV2200108single nucleotide variantNM_018323.4(PI4K2B):c.124G>T (p.Ala42Ser)not specified [RCV004069682]uncertain significance42523428725234287Humanname
156087663CV2241341single nucleotide variantNM_018323.4(PI4K2B):c.188A>G (p.Glu63Gly)not specified [RCV004102478]uncertain significance42523435125234351Humanname
156195471CV2367136single nucleotide variantNM_018323.4(PI4K2B):c.115C>G (p.Arg39Gly)not specified [RCV004215574]uncertain significance42523427825234278Humanname
156265617CV2372272single nucleotide variantNM_018323.4(PI4K2B):c.221C>T (p.Ser74Phe)not specified [RCV004217048]uncertain significance42523438425234384Humanname
401722805CV2677106single nucleotide variantNM_018323.4(PI4K2B):c.188A>C (p.Glu63Ala)not specified [RCV004295743]uncertain significance42523435125234351Humanname
401888139CV2791275single nucleotide variantNM_018323.4(PI4K2B):c.183C>G (p.Asp61Glu)not specified [RCV004356903]uncertain significance42523434625234346Humanname
401888140CV2791276single nucleotide variantNM_018323.4(PI4K2B):c.263T>C (p.Val88Ala)not specified [RCV004356904]uncertain significance42523442625234426Humanname
597739679CV3569340single nucleotide variantNM_018323.4(PI4K2B):c.209A>T (p.Asp70Val)not specified [RCV004844334]uncertain significance42523437225234372Humanname
597739684CV3569341single nucleotide variantNM_018323.4(PI4K2B):c.133A>G (p.Ser45Gly)not specified [RCV004844335]uncertain significance42523429625234296Humanname
597767194CV3569345single nucleotide variantNM_018323.4(PI4K2B):c.274A>G (p.Ile92Val)not specified [RCV004850418]likely benign42525232625252326Humanname
10411853CV205440single nucleotide variantNM_018323.4(PI4K2B):c.861G>T (p.Gln287His)Abnormality of neuronal migration [RCV000201422]benign|uncertain significance42525914125259141Human1name
156277240CV2209881single nucleotide variantNM_018323.4(PI4K2B):c.428T>C (p.Ile143Thr)not specified [RCV004076336]uncertain significance42525506925255069Humanname
155945632CV2238011single nucleotide variantNM_018323.4(PI4K2B):c.607A>G (p.Ile203Val)not specified [RCV004111042]uncertain significance42525524825255248Humanname
156335593CV2272939single nucleotide variantNM_018323.4(PI4K2B):c.413A>T (p.Asp138Val)not specified [RCV004135828]uncertain significance42525246525252465Humanname
155991361CV2355414single nucleotide variantNM_018323.4(PI4K2B):c.355G>A (p.Val119Ile)not specified [RCV004205270]uncertain significance42525240725252407Humanname
329392738CV2471413single nucleotide variantNM_018323.4(PI4K2B):c.656A>G (p.Tyr219Cys)not specified [RCV004280414]uncertain significance42525657425256574Humanname
401887084CV2777088single nucleotide variantNM_018323.4(PI4K2B):c.445C>A (p.Pro149Thr)not specified [RCV004351873]uncertain significance42525508625255086Humanname
401946920CV2842082single nucleotide variantNM_018323.4(PI4K2B):c.807G>C (p.Trp269Cys)Autism [RCV003454378]uncertain significance42525908725259087Human2name
405777981CV3375742single nucleotide variantNM_018323.4(PI4K2B):c.805T>C (p.Trp269Arg)not specified [RCV004503448]uncertain significance42525908525259085Humanname
405777987CV3375743single nucleotide variantNM_018323.4(PI4K2B):c.955T>C (p.Cys319Arg)not specified [RCV004503449]uncertain significance42526056825260568Humanname
407511638CV3463352single nucleotide variantNM_018323.4(PI4K2B):c.959A>G (p.Glu320Gly)not specified [RCV004648112]likely benign42526057225260572Humanname
407511648CV3463355single nucleotide variantNM_018323.4(PI4K2B):c.424A>G (p.Lys142Glu)not specified [RCV004648114]uncertain significance42525506525255065Humanname
597739697CV3569344single nucleotide variantNM_018323.4(PI4K2B):c.692A>T (p.Lys231Met)not specified [RCV004844338]uncertain significance42525661025256610Humanname
598250414CV3996891single nucleotide variantNM_018323.4(PI4K2B):c.569C>T (p.Ala190Val)not specified [RCV005384598]uncertain significance42525521025255210Humanname
598250422CV3996892single nucleotide variantNM_018323.4(PI4K2B):c.605G>C (p.Ser202Thr)not specified [RCV005384599]uncertain significance42525524625255246Humanname
156366548CV2269725single nucleotide variantNM_018323.4(PI4K2B):c.1303G>A (p.Gly435Arg)not specified [RCV004126977]uncertain significance42527704425277044Humanname
155920899CV2340358single nucleotide variantNM_018323.4(PI4K2B):c.1100T>G (p.Leu367Arg)not specified [RCV004197090]uncertain significance42526846425268464Humanname
155995448CV2375818single nucleotide variantNM_018323.4(PI4K2B):c.1136G>A (p.Arg379Lys)not specified [RCV004224399]likely benign42526850025268500Humanname
405777968CV3375740single nucleotide variantNM_018323.4(PI4K2B):c.1039C>G (p.Leu347Val)not specified [RCV004503446]uncertain significance42526381025263810Humanname
407530552CV3463354single nucleotide variantNM_018323.4(PI4K2B):c.1351C>T (p.Arg451Cys)not specified [RCV004657112]uncertain significance42527709225277092Humanname
597739693CV3569343single nucleotide variantNM_018323.4(PI4K2B):c.1088A>C (p.His363Pro)not specified [RCV004844337]uncertain significance42526845225268452Humanname
598250400CV3996889single nucleotide variantNM_018323.4(PI4K2B):c.1217A>G (p.Asp406Gly)not specified [RCV005384596]uncertain significance42526914825269148Humanname
598250406CV3996890single nucleotide variantNM_018323.4(PI4K2B):c.1027A>G (p.Ile343Val)not specified [RCV005384597]uncertain significance42526379825263798Humanname