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24 records found for search term Arpc5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405664017CV3290377single nucleotide variantNM_005717.4(ARPC5):c.5C>G (p.Ser2Trp)Inborn genetic diseases [RCV004418150]uncertain significance1183635655183635655Human1name
401918930CV2831318single nucleotide variantNM_005717.4(ARPC5):c.23C>A (p.Ser8Ter)Immunodeficiency 113 with autoimmunity and autoinflammation [RCV003444098]pathogenic1183635637183635637Human1name
150437580CV1237892single nucleotide variantNM_005717.4(ARPC5):c.351G>A (p.Pro117=)not provided [RCV001644390]benign1183630503183630503Humanname
401734585CV2709545single nucleotide variantNM_005717.4(ARPC5):c.96C>A (p.Asp32Glu)Inborn genetic diseases [RCV003272660]uncertain significance1183635564183635564Human1name
156246509CV2347319single nucleotide variantNM_005717.4(ARPC5):c.182A>G (p.Asn61Ser)Inborn genetic diseases [RCV002987709]uncertain significance1183633116183633116Human1name
597708760CV3583031single nucleotide variantNM_005717.4(ARPC5):c.250A>C (p.Ile84Leu)Inborn genetic diseases [RCV004957684]uncertain significance1183630604183630604Human1name
597708755CV3583032single nucleotide variantNM_005717.4(ARPC5):c.232A>G (p.Ile78Val)Inborn genetic diseases [RCV004957685]uncertain significance1183630622183630622Human1name
597708745CV3583037single nucleotide variantNM_005717.4(ARPC5):c.160G>A (p.Ala54Thr)Inborn genetic diseases [RCV004957686]uncertain significance1183633138183633138Human1name
405664002CV3290374single nucleotide variantNM_005717.4(ARPC5):c.302A>G (p.Asn101Ser)Inborn genetic diseases [RCV004418147]uncertain significance1183630552183630552Human1name
405664008CV3290375single nucleotide variantNM_005717.4(ARPC5):c.370A>C (p.Met124Leu)Inborn genetic diseases [RCV004418148]uncertain significance1183630484183630484Human1name
405664013CV3290376single nucleotide variantNM_005717.4(ARPC5):c.435G>C (p.Leu145Phe)Inborn genetic diseases [RCV004418149]uncertain significance1183627553183627553Human1name
598175646CV3905357single nucleotide variantNM_005717.4(ARPC5):c.412G>A (p.Val138Ile)Inborn genetic diseases [RCV005264033]uncertain significance1183627576183627576Human1name
401918933CV2831319insertionNM_005717.4(ARPC5):c.11_12insTG (p.Thr5fs)Immunodeficiency 113 with autoimmunity and autoinflammation [RCV003444099]pathogenic1183635648183635649Human1name
156130340CV2279797single nucleotide variantNM_030978.3(ARPC5L):c.23C>G (p.Ser8Trp)not specified [RCV004144404]uncertain significance9124869313124869313Humanname
401756450CV2687155single nucleotide variantNM_030978.3(ARPC5L):c.176C>A (p.Ala59Glu)not specified [RCV004304455]uncertain significance9124873718124873718Humanname
401777194CV2721641single nucleotide variantNM_030978.3(ARPC5L):c.109C>G (p.Pro37Ala)not specified [RCV004316138]uncertain significance9124869399124869399Humanname
405664026CV3290378single nucleotide variantNM_030978.3(ARPC5L):c.139C>T (p.Leu47Phe)not specified [RCV004418151]uncertain significance9124869429124869429Humanname
407514170CV3483469single nucleotide variantNM_030978.3(ARPC5L):c.214G>A (p.Ala72Thr)not specified [RCV004674432]uncertain significance9124873756124873756Humanname
597729968CV3583047single nucleotide variantNM_030978.3(ARPC5L):c.164G>A (p.Arg55Gln)not specified [RCV004862983]uncertain significance9124873706124873706Humanname
597729999CV3583055single nucleotide variantNM_030978.3(ARPC5L):c.184C>T (p.Arg62Trp)not specified [RCV004862986]uncertain significance9124873726124873726Humanname
598175718CV3905367single nucleotide variantNM_030978.3(ARPC5L):c.104C>G (p.Ala35Gly)not specified [RCV005264043]likely benign9124869394124869394Humanname
401860535CV2758515single nucleotide variantNM_030978.3(ARPC5L):c.313G>A (p.Val105Ile)not specified [RCV004335564]likely benign9124875065124875065Humanname
401860343CV2768562single nucleotide variantNM_030978.3(ARPC5L):c.310G>A (p.Gly104Ser)not specified [RCV004344429]uncertain significance9124875062124875062Humanname
597730073CV3583066single nucleotide variantNM_030978.3(ARPC5L):c.377T>C (p.Val126Ala)not specified [RCV004862994]uncertain significance9124875129124875129Humanname