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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


32 records found for search term Pbx3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15158240CV759780single nucleotide variantNM_006195.6(PBX3):c.1123-7C>Anot provided [RCV000925028]likely benign9125963005125963005Humanname
405786432CV3374866single nucleotide variantNM_006195.6(PBX3):c.22C>G (p.Leu8Val)not specified [RCV004504905]uncertain significance9125747475125747475Humanname
156436204CV2403635deletionNM_006195.6(PBX3):c.273del (p.Gly92fs)X-linked cone-rod dystrophy [RCV003128111]likely pathogenic9125748622125748622Human1name
407518541CV3466736single nucleotide variantNM_006195.6(PBX3):c.91C>T (p.Pro31Ser)not specified [RCV004651036]uncertain significance9125747544125747544Humanname
155990363CV2374711single nucleotide variantNM_006195.6(PBX3):c.236C>G (p.Ala79Gly)not specified [RCV004225323]uncertain significance9125748585125748585Humanname
156436201CV2403633duplicationNM_006195.6(PBX3):c.945dup (p.Ala316fs)X-linked cone-rod dystrophy [RCV003128109]likely pathogenic9125960784125960785Human1name
329392135CV2470414single nucleotide variantNM_006195.6(PBX3):c.236C>T (p.Ala79Val)not specified [RCV004273446]uncertain significance9125748585125748585Humanname
401738025CV2700905single nucleotide variantNM_006195.6(PBX3):c.221A>G (p.His74Arg)not specified [RCV004307171]uncertain significance9125748570125748570Humanname
401771343CV2722796single nucleotide variantNM_006195.6(PBX3):c.166A>G (p.Ile56Val)not specified [RCV004325220]uncertain significance9125747619125747619Humanname
405786425CV3374865single nucleotide variantNM_006195.6(PBX3):c.172G>C (p.Asp58His)not specified [RCV004504904]uncertain significance9125747625125747625Humanname
597671926CV3568490single nucleotide variantNM_006195.6(PBX3):c.256G>C (p.Glu86Gln)not specified [RCV004836433]uncertain significance9125748605125748605Humanname
156175153CV2254636single nucleotide variantNM_006195.6(PBX3):c.572C>T (p.Thr191Ile)not specified [RCV004115124]uncertain significance9125929710125929710Humanname
156133135CV2365964single nucleotide variantNM_006195.6(PBX3):c.389C>T (p.Ala130Val)not specified [RCV004207572]uncertain significance9125915800125915800Humanname
156436197CV2403629single nucleotide variantNM_006195.6(PBX3):c.797A>C (p.Glu266Ala)X-linked cone-rod dystrophy [RCV003128105]uncertain significance9125935561125935561Human1name
401879076CV2754848single nucleotide variantNM_006195.6(PBX3):c.406G>A (p.Ala136Thr)not specified [RCV004341323]uncertain significance9125915817125915817Humanname
405786448CV3374869single nucleotide variantNM_006195.6(PBX3):c.413C>T (p.Ala138Val)not specified [RCV004504908]uncertain significance9125915824125915824Humanname
407479923CV3466737single nucleotide variantNM_006195.6(PBX3):c.885G>T (p.Lys295Asn)not specified [RCV004664251]uncertain significance9125960725125960725Humanname
597671919CV3568489single nucleotide variantNM_006195.6(PBX3):c.719G>A (p.Arg240His)not specified [RCV004836432]uncertain significance9125935483125935483Humanname
597671934CV3568491single nucleotide variantNM_006195.6(PBX3):c.409G>A (p.Ala137Thr)not specified [RCV004836434]uncertain significance9125915820125915820Humanname
598195049CV3999145single nucleotide variantNM_006195.6(PBX3):c.557G>A (p.Arg186Gln)not specified [RCV005397476]uncertain significance9125929695125929695Humanname
598195058CV3999146single nucleotide variantNM_006195.6(PBX3):c.995C>A (p.Thr332Asn)not specified [RCV005397477]uncertain significance9125960835125960835Humanname
156400472CV2199203single nucleotide variantNM_006195.6(PBX3):c.1136G>A (p.Arg379His)not specified [RCV004080589]uncertain significance9125963025125963025Humanname
156027294CV2199328single nucleotide variantNM_006195.6(PBX3):c.1064A>G (p.Gln355Arg)not specified [RCV004082674]uncertain significance9125962156125962156Humanname
156036602CV2243586single nucleotide variantNM_006195.6(PBX3):c.1102G>A (p.Gly368Arg)not specified [RCV004114317]uncertain significance9125962194125962194Humanname
156154640CV2266092single nucleotide variantNM_006195.6(PBX3):c.1289C>T (p.Ser430Leu)not specified [RCV004128691]uncertain significance9125965907125965907Humanname
401739679CV2704623single nucleotide variantNM_006195.6(PBX3):c.1139A>G (p.His380Arg)not specified [RCV004313658]uncertain significance9125963028125963028Humanname
401860117CV2768493single nucleotide variantNM_006195.6(PBX3):c.1286A>G (p.His429Arg)not specified [RCV004344377]uncertain significance9125965904125965904Humanname
405786420CV3374864single nucleotide variantNM_006195.6(PBX3):c.1088A>C (p.Gln363Pro)not specified [RCV004504903]uncertain significance9125962180125962180Humanname
407518538CV3466735single nucleotide variantNM_006195.6(PBX3):c.1154C>T (p.Thr385Met)not specified [RCV004651035]uncertain significance9125963043125963043Humanname
8633241CV88454single nucleotide variantNM_001134778.1(PBX3):c.200C>T (p.Ser67Phe)Malignant melanoma [RCV000068546]not provided9125915836125915836Humanname
8633242CV88455single nucleotide variantNM_001134778.1(PBX3):c.913C>T (p.His305Tyr)Malignant melanoma [RCV000068547]not provided9125963027125963027Humanname
156436202CV2403634insertionNM_006195.6(PBX3):c.946_947insTA (p.Ala316fs)X-linked cone-rod dystrophy [RCV003128110]likely pathogenic9125960786125960787Human1name