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Pathways
Variants search result for All species
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33 records found for search term Igfbp7
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150520540CV1289762single nucleotide variantNM_001553.3(IGFBP7):c.585+4T>AFamilial retinal arterial macroaneurysm [RCV001730169]|not provided [RCV004716797]benign45704082057040820Human1name
8568240CV39236single nucleotide variantNM_001553.3(IGFBP7):c.830-1G>AFamilial retinal arterial macroaneurysm [RCV003987330]|Retinal arterial macroaneurysm with supravascular pulmonic stenosis [RCV000023215]|not provided [RCV005416323]pathogenic|likely pathogenic|uncertain significance45703133757031337Human1name
15130280CV779041single nucleotide variantNM_001553.3(IGFBP7):c.703-10T>Cnot provided [RCV000964408]benign45703256257032562Humanname
405799272CV3264055single nucleotide variantNM_001553.3(IGFBP7):c.83C>T (p.Ser28Phe)Inborn genetic diseases [RCV004402507]uncertain significance45711026957110269Human1name
15181662CV709401single nucleotide variantNM_001553.3(IGFBP7):c.561G>A (p.Pro187=)not provided [RCV000974447]benign45704084857040848Humanname
156399864CV2202271single nucleotide variantNM_001553.3(IGFBP7):c.250G>A (p.Gly84Ser)Inborn genetic diseases [RCV002656237]uncertain significance45711010257110102Human1name
155974843CV2211211single nucleotide variantNM_001553.3(IGFBP7):c.229G>A (p.Gly77Ser)Inborn genetic diseases [RCV002687827]uncertain significance45711012357110123Human1name
156297635CV2240875single nucleotide variantNM_001553.3(IGFBP7):c.255G>A (p.Met85Ile)Inborn genetic diseases [RCV002748262]uncertain significance45711009757110097Human1name
156055124CV2243154single nucleotide variantNM_001553.3(IGFBP7):c.226G>A (p.Ala76Thr)Inborn genetic diseases [RCV002782251]uncertain significance45711012657110126Human1name
156301547CV2322793single nucleotide variantNM_001553.3(IGFBP7):c.167C>T (p.Ala56Val)Inborn genetic diseases [RCV002936405]uncertain significance45711018557110185Human1name
156160027CV2322794single nucleotide variantNM_001553.3(IGFBP7):c.233G>A (p.Arg78Lys)Inborn genetic diseases [RCV002955198]uncertain significance45711011957110119Human1name
405258805CV3215085single nucleotide variantNM_001553.3(IGFBP7):c.101C>A (p.Pro34His)IGFBP7-related disorder [RCV003942147]likely benign45711025157110251Humanname , trait , alternate_id
407514868CV3440770single nucleotide variantNM_001553.3(IGFBP7):c.274A>G (p.Lys92Glu)Inborn genetic diseases [RCV004627757]uncertain significance45711007857110078Human1name
407514872CV3440772single nucleotide variantNM_001553.3(IGFBP7):c.193C>T (p.Arg65Cys)Inborn genetic diseases [RCV004627759]uncertain significance45711015957110159Human1name
597699233CV3680168single nucleotide variantNM_001553.3(IGFBP7):c.167C>G (p.Ala56Gly)Inborn genetic diseases [RCV004987742]uncertain significance45711018557110185Human1name
598206904CV3975711single nucleotide variantNM_001553.3(IGFBP7):c.235G>A (p.Gly79Arg)Inborn genetic diseases [RCV005337878]uncertain significance45711011757110117Human1name
151727718CV1241991single nucleotide variantNM_001553.3(IGFBP7):c.829G>A (p.Gly277Ser)Familial retinal arterial macroaneurysm [RCV001844360]pathogenic45703242657032426Human1name
156244098CV2267324single nucleotide variantNM_001553.3(IGFBP7):c.730G>A (p.Gly244Arg)Inborn genetic diseases [RCV002830707]uncertain significance45703252557032525Human1name
156005067CV2281435single nucleotide variantNM_001553.3(IGFBP7):c.314C>G (p.Pro105Arg)Inborn genetic diseases [RCV002865700]uncertain significance45711003857110038Human1name
156259096CV2366212single nucleotide variantNM_001553.3(IGFBP7):c.487G>C (p.Val163Leu)Inborn genetic diseases [RCV003008822]uncertain significance45704092257040922Human1name
155929952CV2369961single nucleotide variantNM_001553.3(IGFBP7):c.370G>A (p.Gly124Ser)Inborn genetic diseases [RCV002993135]uncertain significance45710998257109982Human1name
156148038CV2377295single nucleotide variantNM_001553.3(IGFBP7):c.841G>A (p.Glu281Lys)Inborn genetic diseases [RCV002709488]uncertain significance45703132557031325Human1name
156390637CV2383277single nucleotide variantNM_001553.3(IGFBP7):c.310G>A (p.Gly104Ser)Inborn genetic diseases [RCV002724651]uncertain significance45711004257110042Human1name
329359273CV2450932single nucleotide variantNM_001553.3(IGFBP7):c.723A>C (p.Glu241Asp)Inborn genetic diseases [RCV003204402]likely benign45703253257032532Human1name
405286550CV3205399single nucleotide variantNM_001553.3(IGFBP7):c.431G>A (p.Gly144Glu)IGFBP7-related disorder [RCV003959577]|Inborn genetic diseases [RCV004634413]likely benign|uncertain significance45710992157109921Human2name , trait , alternate_id
405294373CV3215310single nucleotide variantNM_001553.3(IGFBP7):c.403G>A (p.Ala135Thr)IGFBP7-related disorder [RCV003934310]benign45710994957109949Humanname , trait , alternate_id
407514870CV3440771single nucleotide variantNM_001553.3(IGFBP7):c.631G>C (p.Gly211Arg)Inborn genetic diseases [RCV004627758]uncertain significance45703326657033266Human1name
407511113CV3440773single nucleotide variantNM_001553.3(IGFBP7):c.581A>G (p.Asn194Ser)Inborn genetic diseases [RCV004626357]uncertain significance45704082857040828Human1name
597699218CV3680166single nucleotide variantNM_001553.3(IGFBP7):c.817C>G (p.Pro273Ala)Inborn genetic diseases [RCV004987740]uncertain significance45703243857032438Human1name
597699226CV3680167single nucleotide variantNM_001553.3(IGFBP7):c.329T>C (p.Val110Ala)Inborn genetic diseases [RCV004987741]uncertain significance45711002357110023Human1name
598269074CV3975707single nucleotide variantNM_001553.3(IGFBP7):c.638G>A (p.Arg213Gln)Inborn genetic diseases [RCV005349831]uncertain significance45703325957033259Human1name
598269078CV3975708single nucleotide variantNM_001553.3(IGFBP7):c.406G>A (p.Ala136Thr)Inborn genetic diseases [RCV005349832]uncertain significance45710994657109946Human1name
126737924CV1016431deletionNM_001553.3(IGFBP7):c.684del (p.Glu228_Val229insTer)Retinal arterial macroaneurysm with supravalvular pulmonic stenosis [RCV001328853]pathogenic45703321357033213Humanname