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


40 records found for search term Nup37
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405272574CV3210123single nucleotide variantNM_024057.4(NUP37):c.156+7C>ANUP37-related disorder [RCV003914372]likely benign12102118356102118356Humanname , trait , alternate_id
405255743CV3210793single nucleotide variantNM_024057.4(NUP37):c.723-7C>ANUP37-related disorder [RCV003939306]benign12102076854102076854Humanname , trait , alternate_id
405284432CV3213721single nucleotide variantNM_024057.4(NUP37):c.156+9A>GNUP37-related disorder [RCV003922279]benign12102118354102118354Humanname , trait , alternate_id
598217606CV3891514single nucleotide variantNM_024057.4(NUP37):c.354+1G>AMicrocephaly 24, primary, autosomal recessive [RCV005252356]pathogenic12102101031102101031Human1name
152983175CV1678007deletionNM_024057.4(NUP37):c.153_156+3delMicrocephaly 24, primary, autosomal recessive [RCV002250162]pathogenic12102118360102118366Human1name
401932308CV2816782single nucleotide variantNM_024057.4(NUP37):c.150G>A (p.Thr50=)NUP37-related disorder [RCV003946526]|not provided [RCV003391960]likely benign12102118369102118369Human1name , trait , alternate_id
405275576CV3199381single nucleotide variantNM_024057.4(NUP37):c.315A>G (p.Arg105=)NUP37-related disorder [RCV003916794]benign12102101071102101071Humanname , trait , alternate_id
598235259CV4004804single nucleotide variantNM_024057.4(NUP37):c.88G>A (p.Gly30Arg)not specified [RCV005381983]uncertain significance12102118431102118431Humanname
155917512CV2278793single nucleotide variantNM_024057.4(NUP37):c.212A>G (p.His71Arg)not specified [RCV004134970]uncertain significance12102112177102112177Humanname
155921006CV2350597single nucleotide variantNM_024057.4(NUP37):c.128A>G (p.Tyr43Cys)not specified [RCV004204943]uncertain significance12102118391102118391Humanname
329360217CV2458624single nucleotide variantNM_024057.4(NUP37):c.137T>C (p.Ile46Thr)not specified [RCV004268297]uncertain significance12102118382102118382Humanname
405680376CV3352428single nucleotide variantNM_024057.4(NUP37):c.148A>G (p.Thr50Ala)not specified [RCV004488561]uncertain significance12102118371102118371Humanname
405680382CV3352429single nucleotide variantNM_024057.4(NUP37):c.149C>T (p.Thr50Met)not specified [RCV004488562]uncertain significance12102118370102118370Humanname
407522451CV3458975single nucleotide variantNM_024057.4(NUP37):c.251C>T (p.Thr84Ile)not specified [RCV004652744]uncertain significance12102112138102112138Humanname
597664457CV3570038single nucleotide variantNM_024057.4(NUP37):c.172G>A (p.Val58Ile)not specified [RCV004835451]likely benign12102112217102112217Humanname
598235244CV4004802single nucleotide variantNM_024057.4(NUP37):c.194C>T (p.Thr65Ile)not specified [RCV005381981]uncertain significance12102112195102112195Humanname
21075008CV798649duplicationNM_024057.4(NUP37):c.225dup (p.Asp76Ter)Microcephaly 24, primary, autosomal recessive [RCV000995823]pathogenic12102112163102112164Human1name
126739910CV1017551single nucleotide variantNM_024057.4(NUP37):c.436G>A (p.Asp146Asn)Microcephaly 24, primary, autosomal recessive [RCV001329309]uncertain significance12102099119102099119Human1name
126911375CV1038116single nucleotide variantNM_024057.4(NUP37):c.740G>T (p.Arg247Ile)not provided [RCV001355278]uncertain significance12102076830102076830Humanname
155987191CV2234073single nucleotide variantNM_024057.4(NUP37):c.497C>G (p.Ser166Cys)not specified [RCV004106179]uncertain significance12102085809102085809Humanname
156276633CV2287757single nucleotide variantNM_024057.4(NUP37):c.944G>A (p.Gly315Glu)not specified [RCV004143212]uncertain significance12102074391102074391Humanname
156192662CV2301908single nucleotide variantNM_024057.4(NUP37):c.503G>T (p.Gly168Val)not specified [RCV004156691]uncertain significance12102085803102085803Humanname
155925593CV2365606single nucleotide variantNM_024057.4(NUP37):c.948C>A (p.Asp316Glu)not specified [RCV004212124]uncertain significance12102074387102074387Humanname
329377876CV2460796single nucleotide variantNM_024057.4(NUP37):c.920C>T (p.Thr307Ile)not specified [RCV004271115]uncertain significance12102074415102074415Humanname
401769245CV2693544single nucleotide variantNM_024057.4(NUP37):c.601A>G (p.Ile201Val)not specified [RCV004297524]uncertain significance12102077443102077443Humanname
405280923CV3190698single nucleotide variantNM_024057.4(NUP37):c.679G>A (p.Val227Ile)Microcephaly 24, primary, autosomal recessive [RCV005392734]|NUP37-related disorder [RCV003907134]benign|likely benign12102077365102077365Human1name , trait , alternate_id
405680387CV3352430single nucleotide variantNM_024057.4(NUP37):c.917G>A (p.Arg306Gln)not specified [RCV004488563]uncertain significance12102074418102074418Humanname
407522457CV3458971single nucleotide variantNM_024057.4(NUP37):c.868C>A (p.Pro290Thr)not specified [RCV004652742]uncertain significance12102074467102074467Humanname
407522454CV3458972single nucleotide variantNM_024057.4(NUP37):c.335A>G (p.Gln112Arg)not specified [RCV004652743]uncertain significance12102101051102101051Humanname
407477944CV3458973single nucleotide variantNM_024057.4(NUP37):c.878T>C (p.Met293Thr)not specified [RCV004638898]likely benign12102074457102074457Humanname
407522447CV3458976single nucleotide variantNM_024057.4(NUP37):c.938T>C (p.Ile313Thr)not specified [RCV004652745]uncertain significance12102074397102074397Humanname
597644005CV3570036single nucleotide variantNM_024057.4(NUP37):c.715C>T (p.Arg239Trp)not specified [RCV004832724]uncertain significance12102077329102077329Humanname
597664449CV3570037single nucleotide variantNM_024057.4(NUP37):c.764G>A (p.Cys255Tyr)not specified [RCV004835450]uncertain significance12102076806102076806Humanname
597645265CV3570042single nucleotide variantNM_024057.4(NUP37):c.953A>G (p.Lys318Arg)not specified [RCV004832725]uncertain significance12102074382102074382Humanname
597664489CV3570043single nucleotide variantNM_024057.4(NUP37):c.732A>C (p.Gln244His)not specified [RCV004835455]uncertain significance12102076838102076838Humanname
597644018CV3570044single nucleotide variantNM_024057.4(NUP37):c.901G>C (p.Gly301Arg)not specified [RCV004832726]uncertain significance12102074434102074434Humanname
597664496CV3570045single nucleotide variantNM_024057.4(NUP37):c.535T>G (p.Phe179Val)not specified [RCV004835456]uncertain significance12102085771102085771Humanname
598235251CV4004803single nucleotide variantNM_024057.4(NUP37):c.976G>C (p.Val326Leu)not specified [RCV005381982]uncertain significance12102074359102074359Humanname
13827784CV581268single nucleotide variantNM_024057.4(NUP37):c.916C>T (p.Arg306Ter)Microcephaly 24, primary, autosomal recessive [RCV000721168]pathogenic|likely pathogenic12102074419102074419Human1name
8634458CV89678single nucleotide variantNM_024057.2(NUP37):c.847C>T (p.His283Tyr)Malignant melanoma [RCV000069775]not provided12102075021102075021Humanname