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Pathways
Variants search result for All species
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22 records found for search term Arf3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150504508CV1211407duplicationNM_001659.3(ARF3):c.149-14dupnot provided [RCV001595572]benign124894011348940114Humanname
596943541CV3542984single nucleotide variantNM_001659.3(ARF3):c.2T>C (p.Met1Thr)not provided [RCV004798569]uncertain significance124894109448941094Humanname
150549114CV1294966single nucleotide variantNM_001659.3(ARF3):c.240C>T (p.His80=)not provided [RCV001764927]benign124894001648940016Humanname
155265749CV1689603single nucleotide variantNM_001659.3(ARF3):c.34C>G (p.Leu12Val)Dystonic disorder [RCV002280591]likely pathogenic124894106248941062Human6name
155265750CV1689604single nucleotide variantNM_001659.3(ARF3):c.95C>A (p.Thr32Asn)Intellectual disability [RCV002280592]pathogenic124894100148941001Human2name
155943483CV1935468single nucleotide variantNM_001659.3(ARF3):c.56G>A (p.Arg19His)not provided [RCV002511214]uncertain significance124894104048941040Humanname
408391355CV3527969single nucleotide variantNM_001659.3(ARF3):c.59T>C (p.Ile20Thr)not provided [RCV004775241]uncertain significance124894103748941037Humanname
596922495CV3537252single nucleotide variantNM_001659.3(ARF3):c.55C>T (p.Arg19Cys)not provided [RCV004787222]pathogenic124894104148941041Humanname
598197199CV3996619single nucleotide variantNM_001659.3(ARF3):c.37A>G (p.Ile13Val)Inborn genetic diseases [RCV005397837]uncertain significance124894105948941059Human1name
8634697CV89917single nucleotide variantNM_001659.2(ARF3):c.309C>T (p.Ala103=)Malignant melanoma [RCV000070014]not provided124893973048939730Humanname
155265751CV1689605single nucleotide variantNM_001659.3(ARF3):c.139C>T (p.Pro47Ser)Seizure [RCV002280593]|not provided [RCV002511144]pathogenic|uncertain significance124894095748940957Human2name
155265752CV1689606single nucleotide variantNM_001659.3(ARF3):c.200A>T (p.Asp67Val)Dystonic disorder [RCV002280594]pathogenic124894005648940056Human6name
155265753CV1689607single nucleotide variantNM_001659.3(ARF3):c.277G>A (p.Asp93Asn)Autism [RCV003224894]|Global developmental delay [RCV005424835]|Pectus excavatum [RCV002280595]|See cases [RCV003985555]|not provided [RCV004729127]pathogenic|likely pathogenic124893976248939762Human6name
598175691CV3891024single nucleotide variantNM_001659.3(ARF3):c.152T>G (p.Phe51Cys)not provided [RCV005251877]uncertain significance124894010448940104Humanname
598248802CV3996608single nucleotide variantNM_001659.3(ARF3):c.149G>T (p.Gly50Val)Inborn genetic diseases [RCV005384368]uncertain significance124894010748940107Human1name
155265754CV1689608single nucleotide variantNM_001659.3(ARF3):c.379A>G (p.Lys127Glu)Heart, malformation of [RCV002280596]pathogenic124893966048939660Human8name
401829280CV2747342single nucleotide variantNM_001659.3(ARF3):c.452G>A (p.Arg151His)not provided [RCV003328807]uncertain significance124893904148939041Humanname
401878521CV2776310single nucleotide variantNM_001659.3(ARF3):c.406G>A (p.Ala136Thr)Inborn genetic diseases [RCV003384373]uncertain significance124893908748939087Human1name
407513057CV3464336single nucleotide variantNM_001659.3(ARF3):c.350G>A (p.Arg117Gln)Inborn genetic diseases [RCV004648646]uncertain significance124893968948939689Human1name
408385304CV3520105single nucleotide variantNM_001659.3(ARF3):c.445C>A (p.Arg149Ser)not provided [RCV004759926]uncertain significance124893904848939048Humanname
596923670CV3532003single nucleotide variantNM_001659.3(ARF3):c.415A>G (p.Ile139Val)not provided [RCV004777114]uncertain significance124893907848939078Humanname
597726018CV3580151single nucleotide variantNM_001659.3(ARF3):c.335C>T (p.Ala112Val)Inborn genetic diseases [RCV004962194]uncertain significance124893970448939704Human1name