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Variants search result for All species
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51 records found for search term Gpkow
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
155265953CV1696138single nucleotide variantNM_015698.6(GPKOW):c.331+5G>Anot provided [RCV002280854]uncertain significanceX4912261749122617Humanname
405141525CV2903802single nucleotide variantNM_015698.6(GPKOW):c.1211-4A>Gnot provided [RCV003560795]likely benignX4911394249113942Humanname
405288427CV3197438single nucleotide variantNM_015698.6(GPKOW):c.456+10C>TGPKOW-related disorder [RCV003982534]benignX4912238849122388Humanname , trait , alternate_id
405292120CV3217103single nucleotide variantNM_015698.6(GPKOW):c.1297-4C>TGPKOW-related disorder [RCV003964348]benignX4911375949113759Humanname , trait , alternate_id
405287678CV3217861single nucleotide variantNM_015698.6(GPKOW):c.11C>G (p.Ser4Cys)GPKOW-related disorder [RCV003981984]benignX4912371249123712Humanname , trait , alternate_id
156216111CV2347948single nucleotide variantNM_015698.6(GPKOW):c.55A>G (p.Ile19Val)not specified [RCV004197638]uncertain significanceX4912366849123668Humanname
401927007CV2821699single nucleotide variantNM_015698.6(GPKOW):c.498C>T (p.Ala166=)not provided [RCV003438284]uncertain significanceX4911977349119773Humanname
15166923CV729631single nucleotide variantNM_015698.6(GPKOW):c.366G>A (p.Ala122=)GPKOW-related disorder [RCV003930579]|not provided [RCV000882739]likely benignX4912248849122488Humanname , trait , alternate_id
15177474CV743372single nucleotide variantNM_015698.6(GPKOW):c.429G>C (p.Gly143=)GPKOW-related disorder [RCV003932916]|not provided [RCV000906659]benignX4912242549122425Humanname , trait , alternate_id
329358872CV2425420single nucleotide variantNM_015698.6(GPKOW):c.236G>T (p.Arg79Leu)not specified [RCV004251076]uncertain significanceX4912271749122717Humanname
329381851CV2467388single nucleotide variantNM_015698.6(GPKOW):c.141T>G (p.Asp47Glu)not specified [RCV004285175]uncertain significanceX4912358249123582Humanname
401926975CV2821700single nucleotide variantNM_015698.6(GPKOW):c.152C>T (p.Thr51Ile)not provided [RCV003438285]likely benignX4912357149123571Humanname
405288270CV3197239single nucleotide variantNM_015698.6(GPKOW):c.1335G>A (p.Arg445=)GPKOW-related disorder [RCV003982335]benignX4911371749113717Humanname , trait , alternate_id
405788601CV3255032single nucleotide variantNM_015698.6(GPKOW):c.274G>A (p.Asp92Asn)not specified [RCV004388180]uncertain significanceX4912267949122679Humanname
407525986CV3440021single nucleotide variantNM_015698.6(GPKOW):c.111C>G (p.Asp37Glu)not specified [RCV004632293]uncertain significanceX4912361249123612Humanname
156284310CV2249828single nucleotide variantNM_015698.6(GPKOW):c.511A>G (p.Met171Val)not specified [RCV004122577]uncertain significanceX4911976049119760Humanname
156166424CV2270415single nucleotide variantNM_015698.6(GPKOW):c.445C>T (p.Arg149Trp)not specified [RCV004137392]uncertain significanceX4912240949122409Humanname
155927176CV2285075single nucleotide variantNM_015698.6(GPKOW):c.745G>C (p.Val249Leu)not specified [RCV004145309]uncertain significanceX4911763249117632Humanname
329400376CV2441588single nucleotide variantNM_015698.6(GPKOW):c.394A>G (p.Met132Val)not specified [RCV004259416]uncertain significanceX4912246049122460Humanname
329401565CV2461055single nucleotide variantNM_015698.6(GPKOW):c.415C>T (p.Pro139Ser)not specified [RCV004265206]uncertain significanceX4912243949122439Humanname
401753080CV2674772single nucleotide variantNM_015698.6(GPKOW):c.838C>T (p.Arg280Trp)not specified [RCV004294052]uncertain significanceX4911710549117105Humanname
401769741CV2731591single nucleotide variantNM_015698.6(GPKOW):c.907G>A (p.Asp303Asn)not specified [RCV004330936]uncertain significanceX4911703649117036Humanname
401873355CV2761436single nucleotide variantNM_015698.6(GPKOW):c.827C>T (p.Ala276Val)not specified [RCV004334615]uncertain significanceX4911711649117116Humanname
401877025CV2767800single nucleotide variantNM_015698.6(GPKOW):c.421G>A (p.Gly141Arg)not specified [RCV004345922]uncertain significanceX4912243349122433Humanname
401877045CV2793328single nucleotide variantNM_015698.6(GPKOW):c.430G>A (p.Ala144Thr)not specified [RCV004362142]uncertain significanceX4912242449122424Humanname
407525994CV3440023single nucleotide variantNM_015698.6(GPKOW):c.650C>G (p.Pro217Arg)not specified [RCV004632295]uncertain significanceX4911772749117727Humanname
407526002CV3440025single nucleotide variantNM_015698.6(GPKOW):c.628A>C (p.Thr210Pro)not specified [RCV004632297]uncertain significanceX4911774949117749Humanname
407526005CV3440026single nucleotide variantNM_015698.6(GPKOW):c.341A>C (p.Lys114Thr)not specified [RCV004632298]uncertain significanceX4912251349122513Humanname
597789467CV3684627single nucleotide variantNM_015698.6(GPKOW):c.935C>T (p.Ser312Leu)not specified [RCV004932972]uncertain significanceX4911630249116302Humanname
598274035CV3970921single nucleotide variantNM_015698.6(GPKOW):c.665G>A (p.Arg222His)not specified [RCV005351218]likely benignX4911771249117712Humanname
598274037CV3970922single nucleotide variantNM_015698.6(GPKOW):c.563A>G (p.Asn188Ser)not specified [RCV005351219]uncertain significanceX4911970849119708Humanname
598274039CV3970923single nucleotide variantNM_015698.6(GPKOW):c.820C>T (p.Arg274Cys)not specified [RCV005351220]uncertain significanceX4911712349117123Humanname
598274043CV3970925single nucleotide variantNM_015698.6(GPKOW):c.553C>T (p.Arg185Cys)not specified [RCV005351222]uncertain significanceX4911971849119718Humanname
616935023CV4009248single nucleotide variantNM_015698.6(GPKOW):c.763C>T (p.Arg255Ter)not provided [RCV005402420]uncertain significanceX4911761449117614Humanname
15163700CV706255single nucleotide variantNM_015698.6(GPKOW):c.863A>G (p.Tyr288Cys)not provided [RCV000948152]likely benignX4911708049117080Humanname
15161624CV729630single nucleotide variantNM_015698.6(GPKOW):c.385G>A (p.Ala129Thr)not provided [RCV000881604]likely benignX4912246949122469Humanname
156233119CV2197098single nucleotide variantNM_015698.6(GPKOW):c.1190A>C (p.Asp397Ala)not specified [RCV004071531]uncertain significanceX4911574649115746Humanname
156182467CV2288255single nucleotide variantNM_015698.6(GPKOW):c.1327C>T (p.Arg443Trp)GPKOW-related disorder [RCV003946375]|not specified [RCV004149764]likely benign|uncertain significanceX4911372549113725Humanname , trait , alternate_id
156290445CV2296499single nucleotide variantNM_015698.6(GPKOW):c.1088G>A (p.Arg363His)not specified [RCV004154580]uncertain significanceX4911594349115943Humanname
329400025CV2440404single nucleotide variantNM_015698.6(GPKOW):c.1184G>A (p.Arg395Gln)not specified [RCV004256341]uncertain significanceX4911575249115752Humanname
329394423CV2461342single nucleotide variantNM_015698.6(GPKOW):c.1083C>A (p.Asp361Glu)not specified [RCV004267503]uncertain significanceX4911594849115948Humanname
401728277CV2676044single nucleotide variantNM_015698.6(GPKOW):c.1172C>T (p.Thr391Ile)not provided [RCV003436003]|not specified [RCV004282026]likely benign|uncertain significanceX4911576449115764Humanname
401927009CV2821698single nucleotide variantNM_015698.6(GPKOW):c.1016G>A (p.Arg339Gln)not provided [RCV003438283]likely benignX4911622149116221Humanname
405291332CV3222320single nucleotide variantNM_015698.6(GPKOW):c.1279G>C (p.Gly427Arg)Holoprosencephaly-hypokinesia-congenital contractures syndrome [RCV003985202]uncertain significanceX4911387049113870Human1name
405788585CV3255029single nucleotide variantNM_015698.6(GPKOW):c.1012G>T (p.Asp338Tyr)not specified [RCV004388177]uncertain significanceX4911622549116225Humanname
405788595CV3255031single nucleotide variantNM_015698.6(GPKOW):c.1033G>C (p.Ala345Pro)not specified [RCV004388179]uncertain significanceX4911599849115998Humanname
407525990CV3440022single nucleotide variantNM_015698.6(GPKOW):c.1171A>G (p.Thr391Ala)not specified [RCV004632294]uncertain significanceX4911576549115765Humanname
407525997CV3440024single nucleotide variantNM_015698.6(GPKOW):c.1341G>C (p.Leu447Phe)not specified [RCV004632296]uncertain significanceX4911371149113711Humanname
598274041CV3970924single nucleotide variantNM_015698.6(GPKOW):c.1144A>G (p.Ile382Val)not specified [RCV005351221]uncertain significanceX4911579249115792Humanname
598274046CV3970926single nucleotide variantNM_015698.6(GPKOW):c.1282C>G (p.Pro428Ala)not specified [RCV005351223]uncertain significanceX4911386749113867Humanname
616934999CV4009226single nucleotide variantNM_015698.6(GPKOW):c.1244C>T (p.Pro415Leu)not provided [RCV005402398]uncertain significanceX4911390549113905Humanname