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


22 records found for search term Rsrc2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
156023288CV2273747single nucleotide variantNM_023012.6(RSRC2):c.23G>A (p.Arg8Gln)not specified [RCV004132392]uncertain significance12122522283122522283Humanname
597787132CV3600976single nucleotide variantNM_023012.6(RSRC2):c.19G>C (p.Glu7Gln)not specified [RCV004855160]uncertain significance12122522287122522287Humanname
156359881CV2328325single nucleotide variantNM_023012.6(RSRC2):c.35C>T (p.Ala12Val)not specified [RCV004175443]uncertain significance12122522271122522271Humanname
401742172CV2722158single nucleotide variantNM_023012.6(RSRC2):c.46A>G (p.Thr16Ala)not specified [RCV004328411]uncertain significance12122522260122522260Humanname
401888255CV2788215single nucleotide variantNM_023012.6(RSRC2):c.91G>A (p.Val31Ile)not specified [RCV004352823]uncertain significance12122522215122522215Humanname
597711841CV3600973single nucleotide variantNM_023012.6(RSRC2):c.66G>C (p.Lys22Asn)not specified [RCV004861118]uncertain significance12122522240122522240Humanname
405756907CV3313439single nucleotide variantNM_023012.6(RSRC2):c.218A>G (p.His73Arg)not specified [RCV004454644]uncertain significance12122519019122519019Humanname
405756912CV3313440single nucleotide variantNM_023012.6(RSRC2):c.277C>T (p.His93Tyr)not specified [RCV004454645]uncertain significance12122518960122518960Humanname
597787129CV3600974single nucleotide variantNM_023012.6(RSRC2):c.239C>T (p.Ser80Phe)not specified [RCV004855159]uncertain significance12122518998122518998Humanname
597711853CV3600975single nucleotide variantNM_023012.6(RSRC2):c.176G>A (p.Arg59Lys)not specified [RCV004861119]uncertain significance12122521416122521416Humanname
12911468CV243989single nucleotide variantNM_023012.6(RSRC2):c.425G>A (p.Arg142Gln)Obesity [RCV000491684]likely pathogenic12122517404122517404Human2name
405288517CV3193621single nucleotide variantNM_023012.6(RSRC2):c.482A>G (p.Glu161Gly)RSRC2-related disorder [RCV003982627]uncertain significance12122517347122517347Humanname , trait , alternate_id
405756920CV3313441single nucleotide variantNM_023012.6(RSRC2):c.676T>A (p.Phe226Ile)not specified [RCV004454646]uncertain significance12122515154122515154Humanname
598193342CV3899528single nucleotide variantNM_023012.6(RSRC2):c.518A>C (p.Lys173Thr)not specified [RCV005267323]uncertain significance12122517311122517311Humanname
598193349CV3899529single nucleotide variantNM_023012.6(RSRC2):c.824C>G (p.Ser275Cys)not specified [RCV005267324]uncertain significance12122508429122508429Humanname
598193354CV3899530single nucleotide variantNM_023012.6(RSRC2):c.610A>G (p.Lys204Glu)not specified [RCV005267325]uncertain significance12122515220122515220Humanname
598193359CV3899531single nucleotide variantNM_023012.6(RSRC2):c.568A>G (p.Thr190Ala)not specified [RCV005267326]uncertain significance12122517261122517261Humanname
598193369CV3899533single nucleotide variantNM_023012.6(RSRC2):c.629C>G (p.Pro210Arg)not specified [RCV005267328]uncertain significance12122515201122515201Humanname
8634549CV89769single nucleotide variantNM_023012.5(RSRC2):c.863A>T (p.Gln288Leu)Malignant melanoma [RCV000069866]not provided12122508390122508390Humanname
155972989CV2238890single nucleotide variantNM_023012.6(RSRC2):c.1154T>C (p.Val385Ala)not specified [RCV004109799]uncertain significance12122505678122505678Humanname
401879325CV2758275single nucleotide variantNM_023012.6(RSRC2):c.1150T>G (p.Ser384Ala)not specified [RCV004341632]uncertain significance12122505682122505682Humanname
407468333CV3472996single nucleotide variantNM_023012.6(RSRC2):c.1282A>G (p.Met428Val)not specified [RCV004661047]uncertain significance12122505550122505550Humanname