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


546 records found for search term Wnk4
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11629884CV344605single nucleotide variantNM_032387.5(WNK4):c.*6G>APseudohypoaldosteronism type 2B [RCV000335115]|not provided [RCV004709646]benign|likely benign174279669442796694Human1name
11629681CV345959single nucleotide variantNM_032387.5(WNK4):c.-22C>TPseudohypoaldosteronism type 2B [RCV000330442]benign|uncertain significance174278067742780677Human1name
11625917CV328573single nucleotide variantNM_032387.5(WNK4):c.*335C>GPseudohypoaldosteronism type 2B [RCV000404812]|not provided [RCV004709647]benign|likely benign174279702342797023Human1name
11651595CV338514single nucleotide variantNM_032387.5(WNK4):c.*340C>APseudohypoaldosteronism type 2B [RCV000299786]uncertain significance174279702842797028Human1name
28897872CV877603single nucleotide variantNM_032387.5(WNK4):c.*148C>TPseudohypoaldosteronism type 2B [RCV001123369]uncertain significance174279683642796836Human1name
28897875CV877604single nucleotide variantNM_032387.5(WNK4):c.*370A>GPseudohypoaldosteronism type 2B [RCV001123370]uncertain significance174279705842797058Human1name
597963562CV3837693single nucleotide variantNM_032387.5(WNK4):c.792-2A>Gnot provided [RCV005193675]uncertain significance174278393542783935Humanname
126737011CV1021651single nucleotide variantNM_032387.5(WNK4):c.2295+1G>Anot provided [RCV002947678]pathogenic|uncertain significance174279373042793730Humanname
156250722CV1967202single nucleotide variantNM_032387.5(WNK4):c.792-16A>Gnot provided [RCV002597460]likely benign174278392142783921Humanname
156367207CV2130742single nucleotide variantNM_032387.5(WNK4):c.3023-9G>AWNK4-related disorder [RCV003961317]|not provided [RCV002967390]benign|likely benign174279561642795616Human1name , trait , alternate_id
405190632CV3069864single nucleotide variantNM_032387.5(WNK4):c.3729+9G>Anot provided [RCV003729686]likely benign174279658742796587Humanname
405170505CV3122488single nucleotide variantNM_032387.5(WNK4):c.791+19T>Cnot provided [RCV003819077]benign174278294942782949Humanname
405118231CV3131047single nucleotide variantNM_032387.5(WNK4):c.3431+9C>Tnot provided [RCV003837103]likely benign174279604242796042Humanname
405047247CV3137789single nucleotide variantNM_032387.5(WNK4):c.1742-5A>Gnot provided [RCV003831827]uncertain significance174278777342787773Humanname
404997213CV3172865single nucleotide variantNM_032387.5(WNK4):c.791+11C>Tnot provided [RCV003882147]benign174278294142782941Humanname
405272366CV3199295single nucleotide variantNM_032387.5(WNK4):c.2350+4T>CWNK4-related disorder [RCV003914245]likely benign174279467242794672Humanname , trait , alternate_id
11627921CV345981single nucleotide variantNM_032387.5(WNK4):c.3022+3A>GPseudohypoaldosteronism type 2B [RCV000292053]benign|likely benign174279552442795524Human1name
597716965CV3709064single nucleotide variantNM_032387.5(WNK4):c.1477-2A>GPseudohypoaldosteronism type 2B [RCV005010240]uncertain significance174278727642787276Human1name
597769793CV3709099single nucleotide variantNM_032387.5(WNK4):c.2350+5G>APseudohypoaldosteronism type 2B [RCV005020314]uncertain significance174279467342794673Human1name
597847352CV3762007single nucleotide variantNM_032387.5(WNK4):c.618+20C>Tnot provided [RCV005087425]benign174278133642781336Humanname
597942373CV3779901deletionNM_032387.5(WNK4):c.1863+6delnot provided [RCV005118910]likely benign174278790542787905Humanname
597943585CV3847711single nucleotide variantNM_032387.5(WNK4):c.3729+8C>Tnot provided [RCV005188439]likely benign174279658642796586Humanname
13831868CV582366single nucleotide variantNM_032387.5(WNK4):c.1742-1G>Anot provided [RCV000722553]uncertain significance174278777742787777Humanname
15108383CV776322single nucleotide variantNM_032387.5(WNK4):c.2157+6G>CPseudohypoaldosteronism type 2B [RCV002488018]|not provided [RCV000938145]|not specified [RCV003489972]likely benign|uncertain significance174278880342788803Human1name
28900239CV880520single nucleotide variantNM_032387.5(WNK4):c.1741+9C>GPseudohypoaldosteronism type 2B [RCV001124270]uncertain significance174278755142787551Human1name
28907259CV880521single nucleotide variantNM_032387.5(WNK4):c.3432-5C>TPseudohypoaldosteronism type 2B [RCV001127471]uncertain significance174279611842796118Human1name
150501094CV1213283single nucleotide variantNM_032387.5(WNK4):c.619-110C>Gnot provided [RCV001594695]benign174278264842782648Humanname
150435136CV1221568single nucleotide variantNM_032387.5(WNK4):c.2158-81G>Cnot provided [RCV001609256]benign174279351142793511Humanname
150475372CV1271183single nucleotide variantNM_032387.5(WNK4):c.2157+98G>Anot provided [RCV001696006]benign174278889542788895Humanname
150445642CV1278186single nucleotide variantNM_032387.5(WNK4):c.1477-64C>Tnot provided [RCV001707329]benign174278721442787214Humanname
150439250CV1287016single nucleotide variantNM_032387.5(WNK4):c.2962-39C>Tnot provided [RCV001724931]benign174279542242795422Humanname
156358090CV2006759single nucleotide variantNM_032387.5(WNK4):c.3023-17T>Cnot provided [RCV002676061]likely benign174279560842795608Humanname
156395376CV2012190single nucleotide variantNM_032387.5(WNK4):c.2157+13G>Cnot provided [RCV002725496]likely benign174278881042788810Humanname
156032132CV2036998single nucleotide variantNM_032387.5(WNK4):c.2295+16G>Anot provided [RCV002781153]benign174279374542793745Humanname
11545163CV256173single nucleotide variantNM_032387.5(WNK4):c.3432-20T>CPseudohypoaldosteronism type 2B [RCV002503948]|not provided [RCV002519940]|not specified [RCV000244765]benign|likely benign174279610342796103Human1name
405110764CV2906743single nucleotide variantNM_032387.5(WNK4):c.3431+10G>AWNK4-related disorder [RCV003901200]|not provided [RCV003557865]likely benign174279604342796043Human1name , trait , alternate_id
405157868CV3065156single nucleotide variantNM_032387.5(WNK4):c.3631+10C>Tnot provided [RCV003726887]likely benign174279633242796332Humanname
405210770CV3146152single nucleotide variantNM_032387.5(WNK4):c.1863+13C>Tnot provided [RCV003845683]likely benign174278791242787912Humanname
11625976CV338490single nucleotide variantNM_032387.5(WNK4):c.1477-13A>GPseudohypoaldosteronism type 2B [RCV000405525]|not provided [RCV001613040]benign|likely benign174278726542787265Human1name
11619047CV338495single nucleotide variantNM_032387.5(WNK4):c.1864-11T>CPseudohypoaldosteronism type 2B [RCV000321058]|not provided [RCV003765879]benign|likely benign174278811942788119Human1name
597769430CV3709052single nucleotide variantNM_032387.5(WNK4):c.1170+20C>TPseudohypoaldosteronism type 2B [RCV005020272]uncertain significance174278459942784599Human1name
597769471CV3709063single nucleotide variantNM_032387.5(WNK4):c.1477-12C>GPseudohypoaldosteronism type 2B [RCV005020279]|not provided [RCV005061880]uncertain significance174278726642787266Human1name
597836204CV3739822single nucleotide variantNM_032387.5(WNK4):c.1171-20T>Cnot provided [RCV005064042]likely benign174278507742785077Humanname
597914597CV3740652single nucleotide variantNM_032387.5(WNK4):c.1171-15C>Gnot provided [RCV005073989]likely benign174278508242785082Humanname
597846624CV3753100single nucleotide variantNM_032387.5(WNK4):c.1259+16C>Anot provided [RCV005087325]likely benign174278520142785201Humanname
597947731CV3758977single nucleotide variantNM_032387.5(WNK4):c.1260-12C>Tnot provided [RCV005078773]likely benign174278525442785254Humanname
28897868CV880522single nucleotide variantNM_032387.5(WNK4):c.3632-14C>APseudohypoaldosteronism type 2B [RCV001123368]uncertain significance174279646742796467Human1name
150330812CV1169723single nucleotide variantNM_032387.5(WNK4):c.1171-188A>Gnot provided [RCV001536143]benign174278490942784909Humanname
150472155CV1217134single nucleotide variantNM_032387.5(WNK4):c.1170+145G>Anot provided [RCV001615429]benign174278472442784724Humanname
150486560CV1225761deletionNM_032387.5(WNK4):c.1171-161delnot provided [RCV001617922]benign174278492742784927Humanname
150477997CV1252104single nucleotide variantNM_032387.5(WNK4):c.1477-201G>Anot provided [RCV001672304]benign174278707742787077Humanname
150439392CV1264961single nucleotide variantNM_032387.5(WNK4):c.2295+126G>Anot provided [RCV001678954]benign174279385542793855Humanname
150439225CV1287013single nucleotide variantNM_032387.5(WNK4):c.2041-120G>Anot provided [RCV001724928]benign174278856142788561Human1name
150439225CV1287013single nucleotide variantNM_032387.5(WNK4):c.2041-120G>Anot provided [RCV001724928]benign174278856142788562Human1name
156211059CV1929114single nucleotide variantNM_032387.5(WNK4):c.15G>A (p.Pro5=)not provided [RCV002643998]likely benign174278071342780713Humanname
153304830CV1687276single nucleotide variantNM_032387.5(WNK4):c.45G>A (p.Gln15=)not provided [RCV002263094]likely benign174278074342780743Humanname
405029189CV3073618single nucleotide variantNM_032387.5(WNK4):c.33C>T (p.Val11=)not provided [RCV003739013]benign174278073142780731Humanname
405175085CV3150604single nucleotide variantNM_032387.5(WNK4):c.99G>A (p.Gln33=)not provided [RCV003841878]likely benign174278079742780797Humanname
21075626CV797543deletionNM_032387.5(WNK4):c.2041-7_2041-2delnot provided [RCV000996558]uncertain significance174278867042788675Humanname
156225012CV2121763single nucleotide variantNM_032387.5(WNK4):c.297G>T (p.Pro99=)not provided [RCV002958291]benign174278099542780995Humanname
156230935CV2227561single nucleotide variantNM_032387.5(WNK4):c.17C>A (p.Ala6Asp)Inborn genetic diseases [RCV002712753]uncertain significance174278071542780715Human1name
11624511CV328525single nucleotide variantNM_032387.5(WNK4):c.14C>T (p.Pro5Leu)Inborn genetic diseases [RCV004678678]|Pseudohypoaldosteronism type 2B [RCV000387167]|not provided [RCV002522965]likely benign|uncertain significance174278071242780712Human2name
11627356CV344552single nucleotide variantNM_032387.5(WNK4):c.16G>A (p.Ala6Thr)Pseudohypoaldosteronism type 2B [RCV000281170]|WNK4-related disorder [RCV003897737]|not provided [RCV000971310]benign|likely benign174278071442780714Human1name , trait , alternate_id
407524763CV3487951single nucleotide variantNM_032387.5(WNK4):c.11C>T (p.Ser4Phe)Inborn genetic diseases [RCV004678546]uncertain significance174278070942780709Human1name
597769417CV3709021single nucleotide variantNM_032387.5(WNK4):c.26C>T (p.Thr9Ile)Pseudohypoaldosteronism type 2B [RCV005020241]uncertain significance174278072442780724Human1name
597769308CV3709031single nucleotide variantNM_032387.5(WNK4):c.282C>A (p.Pro94=)Pseudohypoaldosteronism type 2B [RCV005020251]likely benign174278098042780980Human1name
597906820CV3738833single nucleotide variantNM_032387.5(WNK4):c.198C>T (p.Asp66=)not provided [RCV005073068]benign174278089642780896Humanname
28899998CV877568single nucleotide variantNM_032387.5(WNK4):c.204G>A (p.Gly68=)Pseudohypoaldosteronism type 2B [RCV001124179]likely benign174278090242780902Human1name
156404658CV1898349single nucleotide variantNM_032387.5(WNK4):c.825G>A (p.Arg275=)not provided [RCV002585457]benign174278397042783970Humanname
156301323CV1902097single nucleotide variantNM_032387.5(WNK4):c.474G>A (p.Glu158=)not provided [RCV003087942]benign174278117242781172Humanname
156038678CV2047800deletionNM_032387.5(WNK4):c.1476+20_1476+24delnot provided [RCV002781409]benign174278549942785503Humanname
155936493CV2074892single nucleotide variantNM_032387.5(WNK4):c.35T>G (p.Leu12Arg)not provided [RCV002861476]uncertain significance174278073342780733Humanname
155975997CV2085120single nucleotide variantNM_032387.5(WNK4):c.987C>T (p.Arg329=)not provided [RCV002863534]likely benign174278413242784132Humanname
156017794CV2121507single nucleotide variantNM_032387.5(WNK4):c.762C>T (p.Thr254=)not provided [RCV002948623]likely benign174278290142782901Humanname
329377435CV2462627single nucleotide variantNM_032387.5(WNK4):c.64C>G (p.Leu22Val)Inborn genetic diseases [RCV003211873]uncertain significance174278076242780762Human1name
401931359CV2800948single nucleotide variantNM_032387.5(WNK4):c.64C>A (p.Leu22Met)WNK4-related disorder [RCV003391330]uncertain significance174278076242780762Humanname , trait , alternate_id
402484340CV2944871single nucleotide variantNM_032387.5(WNK4):c.321G>A (p.Glu107=)not provided [RCV003659931]likely benign174278101942781019Humanname
405227528CV3039665single nucleotide variantNM_032387.5(WNK4):c.903G>A (p.Arg301=)not provided [RCV003710960]likely benign174278404842784048Humanname
405183546CV3057818single nucleotide variantNM_032387.5(WNK4):c.82C>G (p.Leu28Val)Pseudohypoaldosteronism type 2B [RCV005014919]|not provided [RCV003729034]uncertain significance174278078042780780Human1name
405203939CV3057916single nucleotide variantNM_032387.5(WNK4):c.675C>T (p.Leu225=)not provided [RCV003731090]likely benign174278281442782814Humanname
405189762CV3069716single nucleotide variantNM_032387.5(WNK4):c.375C>G (p.Pro125=)not provided [RCV003729612]likely benign174278107342781073Humanname
405217912CV3135643single nucleotide variantNM_032387.5(WNK4):c.37A>G (p.Met13Val)not provided [RCV003824268]uncertain significance174278073542780735Humanname
405277036CV3192582single nucleotide variantNM_032387.5(WNK4):c.783G>A (p.Thr261=)WNK4-related disorder [RCV003917312]likely benign174278292242782922Humanname , trait , alternate_id
405285174CV3202536single nucleotide variantNM_032387.5(WNK4):c.730C>T (p.Leu244=)WNK4-related disorder [RCV003909796]|not provided [RCV005101664]benign|likely benign174278286942782869Human1name , trait , alternate_id
11625936CV328531single nucleotide variantNM_032387.5(WNK4):c.717G>T (p.Ser239=)Pseudohypoaldosteronism type 2A [RCV000404592]|Pseudohypoaldosteronism type 2B [RCV005016711]|not provided [RCV005090492]benign|likely benign|uncertain significance174278285642782856Human3name
405812081CV3352903single nucleotide variantNM_032387.5(WNK4):c.38T>G (p.Met13Arg)Inborn genetic diseases [RCV004483103]uncertain significance174278073642780736Human1name
11627295CV344558single nucleotide variantNM_032387.5(WNK4):c.507C>A (p.Pro169=)Pseudohypoaldosteronism type 2B [RCV000279867]|not provided [RCV002522967]benign|likely benign174278120542781205Human1name
11628474CV344560single nucleotide variantNM_032387.5(WNK4):c.945C>T (p.Gly315=)Pseudohypoaldosteronism type 2B [RCV000303081]|not provided [RCV000883454]benign|likely benign174278409042784090Human1name
11630046CV345961single nucleotide variantNM_032387.5(WNK4):c.47C>T (p.Thr16Ile)Pseudohypoaldosteronism type 2B [RCV000338395]|not provided [RCV002522966]benign|likely benign174278074542780745Human1name
407465480CV3487947single nucleotide variantNM_032387.5(WNK4):c.34C>T (p.Leu12Phe)Inborn genetic diseases [RCV004688779]uncertain significance174278073242780732Human1name
407477582CV3495169single nucleotide variantNM_032387.5(WNK4):c.651C>T (p.Arg217=)not specified [RCV004691072]likely benign174278279042782790Humanname
408380153CV3510439single nucleotide variantNM_032387.5(WNK4):c.98A>T (p.Gln33Leu)Inborn genetic diseases [RCV005301444]|WNK4-related disorder [RCV004753927]likely benign|uncertain significance174278079642780796Human2name , trait , alternate_id
597769269CV3709022single nucleotide variantNM_032387.5(WNK4):c.73C>T (p.Pro25Ser)Pseudohypoaldosteronism type 2B [RCV005020242]uncertain significance174278077142780771Human1name
597769264CV3709023single nucleotide variantNM_032387.5(WNK4):c.79C>T (p.Pro27Ser)Pseudohypoaldosteronism type 2B [RCV005020243]uncertain significance174278077742780777Human1name
597769290CV3709028duplicationNM_032387.5(WNK4):c.252dup (p.Asp85fs)Pseudohypoaldosteronism type 2B [RCV005020248]uncertain significance174278094342780944Human1name
597922041CV3738455single nucleotide variantNM_032387.5(WNK4):c.366C>G (p.Ser122=)not provided [RCV005074862]likely benign174278106442781064Humanname
597909332CV3749515single nucleotide variantNM_032387.5(WNK4):c.568C>A (p.Arg190=)not provided [RCV005073363]likely benign174278126642781266Humanname
597885713CV3777302single nucleotide variantNM_032387.5(WNK4):c.501G>A (p.Thr167=)not provided [RCV005124901]likely benign174278119942781199Humanname
597884748CV3780647deletionNM_032387.5(WNK4):c.144del (p.Lys49fs)not provided [RCV005124775]uncertain significance174278084042780840Humanname
597966356CV3845015single nucleotide variantNM_032387.5(WNK4):c.633T>C (p.Ser211=)not provided [RCV005194343]benign174278277242782772Humanname
617151462CV4017988single nucleotide variantNM_032387.5(WNK4):c.76C>T (p.Pro26Ser)not specified [RCV005417778]uncertain significance174278077442780774Humanname
8621594CV75568single nucleotide variantNM_032387.5(WNK4):c.546T>A (p.Arg182=)not provided [RCV000054790]uncertain significance174278124442781244Humanname
28899989CV877565single nucleotide variantNM_032387.5(WNK4):c.79C>G (p.Pro27Ala)Pseudohypoaldosteronism type 2B [RCV001124176]uncertain significance174278077742780777Human1name
28899992CV877566single nucleotide variantNM_032387.5(WNK4):c.92C>A (p.Ala31Glu)Pseudohypoaldosteronism type 2B [RCV001124177]|not provided [RCV005093572]benign|likely benign174278079042780790Human1name
28906073CV877572single nucleotide variantNM_032387.5(WNK4):c.450G>A (p.Arg150=)Pseudohypoaldosteronism type 2B [RCV001126849]uncertain significance174278114842781148Human1name
28906808CV877576single nucleotide variantNM_032387.5(WNK4):c.924C>T (p.Val308=)Pseudohypoaldosteronism type 2B [RCV001127249]|not provided [RCV002556782]likely benign174278406942784069Human1name
156323701CV1882780single nucleotide variantNM_032387.5(WNK4):c.292C>A (p.Pro98Thr)not provided [RCV003089342]likely benign174278099042780990Humanname
156281274CV1922539single nucleotide variantNM_032387.5(WNK4):c.1182G>A (p.Pro394=)not provided [RCV002628441]likely benign174278510842785108Humanname
156435780CV1937141single nucleotide variantNM_032387.5(WNK4):c.268G>T (p.Ala90Ser)Inborn genetic diseases [RCV004244555]|not provided [RCV003105011]likely benign|uncertain significance174278096642780966Human1name
156028538CV2109096single nucleotide variantNM_032387.5(WNK4):c.2031G>A (p.Arg677=)not provided [RCV002909956]benign174278839842788398Humanname
156018551CV2121552single nucleotide variantNM_032387.5(WNK4):c.1329G>A (p.Ala443=)not provided [RCV002948657]benign174278533542785335Humanname
156010088CV2124519single nucleotide variantNM_032387.5(WNK4):c.1659C>T (p.Val553=)not provided [RCV002948214]benign174278746042787460Humanname
156119299CV2128450single nucleotide variantNM_032387.5(WNK4):c.182G>A (p.Arg61His)not provided [RCV002953435]benign174278088042780880Humanname
156119332CV2128451single nucleotide variantNM_032387.5(WNK4):c.2502C>A (p.Pro834=)not provided [RCV002953436]benign174279492342794923Humanname
156326051CV2184343single nucleotide variantNM_032387.5(WNK4):c.1287C>T (p.His429=)not provided [RCV003046941]likely benign174278529342785293Humanname
156336228CV2189900deletionNM_032387.5(WNK4):c.880del (p.Arg294fs)not provided [RCV003063979]uncertain significance174278402342784023Humanname
156376967CV2206919single nucleotide variantNM_032387.5(WNK4):c.148G>A (p.Ala50Thr)Inborn genetic diseases [RCV002677926]|not provided [RCV003689022]uncertain significance174278084642780846Human1name
156091462CV2256586single nucleotide variantNM_032387.5(WNK4):c.154C>G (p.Pro52Ala)Inborn genetic diseases [RCV002798534]uncertain significance174278085242780852Human1name
156061546CV2320920single nucleotide variantNM_032387.5(WNK4):c.140C>T (p.Ser47Phe)Inborn genetic diseases [RCV002925080]|Pseudohypoaldosteronism type 2B [RCV005021730]uncertain significance174278083842780838Human2name
156263339CV2329364single nucleotide variantNM_032387.5(WNK4):c.103C>T (p.Arg35Cys)Inborn genetic diseases [RCV002959886]uncertain significance174278080142780801Human1name
405070350CV2876451single nucleotide variantNM_032387.5(WNK4):c.1713C>T (p.Phe571=)not provided [RCV003548492]likely benign174278751442787514Humanname
402505209CV2884400single nucleotide variantNM_032387.5(WNK4):c.1278C>T (p.Leu426=)not provided [RCV003546295]benign174278528442785284Humanname
405238731CV2996843single nucleotide variantNM_032387.5(WNK4):c.2754C>A (p.Thr918=)not provided [RCV003718721]likely benign174279517542795175Humanname
405052439CV3022201single nucleotide variantNM_032387.5(WNK4):c.142G>C (p.Gly48Arg)Inborn genetic diseases [RCV005301348]|not provided [RCV003697101]likely benign|uncertain significance174278084042780840Human1name
405117443CV3130960single nucleotide variantNM_032387.5(WNK4):c.1899A>G (p.Gly633=)not provided [RCV003837016]likely benign174278816542788165Humanname
405287007CV3205512single nucleotide variantNM_032387.5(WNK4):c.1911C>T (p.Ser637=)WNK4-related disorder [RCV003959668]likely benign174278817742788177Humanname , trait , alternate_id
405279525CV3217500single nucleotide variantNM_032387.5(WNK4):c.2829C>T (p.Ser943=)WNK4-related disorder [RCV003976899]|not provided [RCV005103097]likely benign174279525042795250Human1name , trait , alternate_id
11621365CV328549single nucleotide variantNM_032387.5(WNK4):c.1953C>T (p.Ser651=)Pseudohypoaldosteronism type 2B [RCV000347879]likely benign|uncertain significance174278832042788320Human1name
11612685CV328551single nucleotide variantNM_032387.5(WNK4):c.2724G>A (p.Pro908=)Pseudohypoaldosteronism type 2B [RCV000261414]|not provided [RCV001675817]benign174279514542795145Human1name
405812059CV3352892single nucleotide variantNM_032387.5(WNK4):c.254A>G (p.Asp85Gly)Inborn genetic diseases [RCV004483092]uncertain significance174278095242780952Human1name
405812061CV3352893single nucleotide variantNM_032387.5(WNK4):c.262G>C (p.Asp88His)Inborn genetic diseases [RCV004483093]|not provided [RCV005104773]uncertain significance174278096042780960Human1name
11622712CV338491single nucleotide variantNM_032387.5(WNK4):c.1524T>C (p.Arg508=)Pseudohypoaldosteronism type 2B [RCV000363826]|not provided [RCV000904291]benign|likely benign174278732542787325Human1name
11618704CV338494single nucleotide variantNM_032387.5(WNK4):c.1809G>A (p.Gln603=)Pseudohypoaldosteronism type 2B [RCV000317145]uncertain significance174278784542787845Human1name
11631229CV344554single nucleotide variantNM_032387.5(WNK4):c.239C>A (p.Ala80Asp)Pseudohypoaldosteronism type 2B [RCV000371996]|WNK4-related disorder [RCV003912340]|not provided [RCV000957610]benign174278093742780937Human1name , trait , alternate_id
11631035CV344564single nucleotide variantNM_032387.5(WNK4):c.1641C>T (p.Ala547=)Pseudohypoaldosteronism type 2B [RCV000366794]|not provided [RCV002056601]|not specified [RCV000606499]benign174278744242787442Human1name
11632362CV344589single nucleotide variantNM_032387.5(WNK4):c.2334C>T (p.Leu778=)Pseudohypoaldosteronism type 2B [RCV000406393]|not provided [RCV002522973]benign|likely benign174279465242794652Human1name
11629430CV344595single nucleotide variantNM_032387.5(WNK4):c.2823G>A (p.Leu941=)Pseudohypoaldosteronism type 2B [RCV000323735]uncertain significance174279524442795244Human1name
11627146CV345962single nucleotide variantNM_032387.5(WNK4):c.1572G>T (p.Leu524=)Pseudohypoaldosteronism type 2B [RCV000276243]|not provided [RCV002522969]benign|likely benign174278737342787373Human1name
11627073CV345966single nucleotide variantNM_032387.5(WNK4):c.1653C>T (p.Pro551=)Pseudohypoaldosteronism type 2B [RCV000274566]|not provided [RCV000880337]benign|likely benign174278745442787454Human1name
11631324CV345970single nucleotide variantNM_032387.5(WNK4):c.1719C>T (p.His573=)Pseudohypoaldosteronism type 2B [RCV000374989]|not provided [RCV000974373]benign|likely benign174278752042787520Human1name
11631455CV345974single nucleotide variantNM_032387.5(WNK4):c.1827A>G (p.Pro609=)Pseudohypoaldosteronism type 2B [RCV000378684]|not provided [RCV000892115]benign|likely benign174278786342787863Human1name
407524755CV3487948single nucleotide variantNM_032387.5(WNK4):c.238G>A (p.Ala80Thr)Inborn genetic diseases [RCV004678543]uncertain significance174278093642780936Human1name
407524759CV3487950single nucleotide variantNM_032387.5(WNK4):c.172C>G (p.Arg58Gly)Inborn genetic diseases [RCV004678545]uncertain significance174278087042780870Human1name
408381101CV3523761single nucleotide variantNM_032387.5(WNK4):c.133C>A (p.Arg45Ser)not provided [RCV004766159]uncertain significance174278083142780831Humanname
597631025CV3624180single nucleotide variantNM_032387.5(WNK4):c.109G>A (p.Gly37Arg)Inborn genetic diseases [RCV004967488]uncertain significance174278080742780807Human1name
597769274CV3709025single nucleotide variantNM_032387.5(WNK4):c.125G>A (p.Arg42Gln)Pseudohypoaldosteronism type 2B [RCV005020245]uncertain significance174278082342780823Human1name
597769279CV3709026single nucleotide variantNM_032387.5(WNK4):c.130C>T (p.Arg44Cys)Pseudohypoaldosteronism type 2B [RCV005020246]uncertain significance174278082842780828Human1name
597769284CV3709027single nucleotide variantNM_032387.5(WNK4):c.142G>A (p.Gly48Arg)Pseudohypoaldosteronism type 2B [RCV005020247]uncertain significance174278084042780840Human1name
597769297CV3709029single nucleotide variantNM_032387.5(WNK4):c.251C>T (p.Pro84Leu)Pseudohypoaldosteronism type 2B [RCV005020249]uncertain significance174278094942780949Human1name
597769302CV3709030single nucleotide variantNM_032387.5(WNK4):c.271G>C (p.Gly91Arg)Pseudohypoaldosteronism type 2B [RCV005020250]uncertain significance174278096942780969Human1name
597769313CV3709032single nucleotide variantNM_032387.5(WNK4):c.292C>T (p.Pro98Ser)Pseudohypoaldosteronism type 2B [RCV005020252]uncertain significance174278099042780990Human1name
597769348CV3709038deletionNM_032387.5(WNK4):c.683del (p.Leu228fs)Pseudohypoaldosteronism type 2B [RCV005020258]uncertain significance174278282242782822Human1name
597769528CV3709074single nucleotide variantNM_032387.5(WNK4):c.1716C>T (p.Arg572=)Pseudohypoaldosteronism type 2B [RCV005020289]uncertain significance174278751742787517Human1name
597769762CV3709093single nucleotide variantNM_032387.5(WNK4):c.2184G>A (p.Ser728=)Pseudohypoaldosteronism type 2B [RCV005020308]uncertain significance174279361842793618Human1name
597769831CV3709107single nucleotide variantNM_032387.5(WNK4):c.2748C>T (p.Pro916=)Pseudohypoaldosteronism type 2B [RCV005020322]uncertain significance174279516942795169Human1name
597866075CV3742409single nucleotide variantNM_032387.5(WNK4):c.1404A>C (p.Pro468=)not provided [RCV005068025]likely benign174278541042785410Humanname
597849067CV3746545single nucleotide variantNM_032387.5(WNK4):c.2409C>T (p.Ser803=)not provided [RCV005060364]likely benign174279483042794830Humanname
597937967CV3787978single nucleotide variantNM_032387.5(WNK4):c.1662C>T (p.Phe554=)not provided [RCV005132857]likely benign174278746342787463Humanname
597901579CV3796732single nucleotide variantNM_032387.5(WNK4):c.2865C>T (p.Ala955=)not provided [RCV005152815]likely benign174279528642795286Humanname
597959718CV3797628single nucleotide variantNM_032387.5(WNK4):c.221C>T (p.Ser74Phe)not provided [RCV005138315]uncertain significance174278091942780919Humanname
597875061CV3816842duplicationNM_032387.5(WNK4):c.318dup (p.Glu107fs)not provided [RCV005148895]uncertain significance174278101042781011Humanname
597947847CV3818177single nucleotide variantNM_032387.5(WNK4):c.157C>G (p.Arg53Gly)not provided [RCV005160438]uncertain significance174278085542780855Humanname
597872333CV3836097single nucleotide variantNM_032387.5(WNK4):c.1782C>T (p.Phe594=)not provided [RCV005176894]likely benign174278781842787818Humanname
597932018CV3837956single nucleotide variantNM_032387.5(WNK4):c.2673G>A (p.Thr891=)not provided [RCV005185925]benign174279509442795094Humanname
598236038CV3937143single nucleotide variantNM_032387.5(WNK4):c.104G>T (p.Arg35Leu)Inborn genetic diseases [RCV005295949]uncertain significance174278080242780802Human1name
598190045CV4008781single nucleotide variantNM_032387.5(WNK4):c.163C>T (p.Arg55Cys)Pseudohypoaldosteronism type 2B [RCV005396280]uncertain significance174278086142780861Human1name
8621591CV75565single nucleotide variantNM_032387.5(WNK4):c.2577C>T (p.Thr859=)not provided [RCV000054787]uncertain significance174279499842794998Humanname
8621592CV75566single nucleotide variantNM_032387.5(WNK4):c.2718T>C (p.Phe906=)not provided [RCV000054788]uncertain significance174279513942795139Humanname
15112097CV755867single nucleotide variantNM_032387.5(WNK4):c.2136G>A (p.Pro712=)Pseudohypoaldosteronism type 2B [RCV002479063]|not provided [RCV000916853]likely benign174278877642788776Human1name
15108706CV755868single nucleotide variantNM_032387.5(WNK4):c.2310A>G (p.Pro770=)Pseudohypoaldosteronism type 2B [RCV002502769]|not provided [RCV000916192]likely benign174279462842794628Human1name
15105313CV755869single nucleotide variantNM_032387.5(WNK4):c.2490C>T (p.Pro830=)not provided [RCV000915521]likely benign174279491142794911Humanname
21075625CV797542single nucleotide variantNM_032387.5(WNK4):c.1080G>T (p.Ala360=)not provided [RCV000996557]conflicting interpretations of pathogenicity|uncertain significance174278448942784489Humanname
28899996CV877567single nucleotide variantNM_032387.5(WNK4):c.164G>A (p.Arg55His)Pseudohypoaldosteronism type 2B [RCV001124178]uncertain significance174278086242780862Human1name
28900000CV877569single nucleotide variantNM_032387.5(WNK4):c.246C>A (p.Asp82Glu)Pseudohypoaldosteronism type 2B [RCV001124180]likely benign|conflicting interpretations of pathogenicity174278094442780944Human1name
28897405CV877582single nucleotide variantNM_032387.5(WNK4):c.1527A>G (p.Ala509=)Pseudohypoaldosteronism type 2B [RCV001123186]uncertain significance174278732842787328Human1name
28900243CV877584single nucleotide variantNM_032387.5(WNK4):c.1743G>A (p.Ser581=)Pseudohypoaldosteronism type 2B [RCV001124271]benign|likely benign174278777942787779Human1name
28906239CV877585single nucleotide variantNM_032387.5(WNK4):c.1818G>A (p.Gly606=)Pseudohypoaldosteronism type 2B [RCV001126939]|not provided [RCV005093586]likely benign174278785442787854Human1name
28906240CV877586single nucleotide variantNM_032387.5(WNK4):c.1855C>T (p.Leu619=)Pseudohypoaldosteronism type 2B [RCV001126940]benign174278789142787891Human1name
28897652CV877592single nucleotide variantNM_032387.5(WNK4):c.2481C>T (p.Pro827=)Pseudohypoaldosteronism type 2B [RCV001123284]|not provided [RCV003727879]likely benign174279490242794902Human1name
28897654CV877593single nucleotide variantNM_032387.5(WNK4):c.2610C>T (p.Pro870=)Pseudohypoaldosteronism type 2B [RCV001123285]uncertain significance174279503142795031Human1name
28897657CV877594single nucleotide variantNM_032387.5(WNK4):c.2625A>G (p.Pro875=)Pseudohypoaldosteronism type 2B [RCV001123286]uncertain significance174279504642795046Human1name
28900576CV877596single nucleotide variantNM_032387.5(WNK4):c.2814C>G (p.Ala938=)Pseudohypoaldosteronism type 2B [RCV001124389]uncertain significance174279523542795235Human1name
126912264CV1038534single nucleotide variantNM_032387.5(WNK4):c.776C>T (p.Ser259Leu)not provided [RCV001356333]uncertain significance174278291542782915Humanname
150475405CV1271188duplicationNM_032387.5(WNK4):c.1171-162_1171-161dupnot provided [RCV001696011]benign174278492642784927Humanname
150520467CV1289679deletionNM_032387.5(WNK4):c.1822del (p.Val608fs)Pseudohypoaldosteronism type 2B [RCV001730098]|not provided [RCV005094906]uncertain significance174278785242787852Human1name
151732825CV1336437single nucleotide variantNM_032387.5(WNK4):c.506C>T (p.Pro169Leu)Pseudohypoaldosteronism type 2B [RCV001849665]pathogenic174278120442781204Human1name
153345983CV1690901deletionNM_032387.5(WNK4):c.1800del (p.Ala601fs)Pseudohypoaldosteronism type 2B [RCV005017179]|not provided [RCV003096115]|not specified [RCV002271801]likely benign|uncertain significance174278783642787836Human1name
156262000CV1913591single nucleotide variantNM_032387.5(WNK4):c.731T>C (p.Leu244Pro)not provided [RCV002627796]uncertain significance174278287042782870Humanname
156022410CV1919942single nucleotide variantNM_032387.5(WNK4):c.476A>G (p.Asp159Gly)Inborn genetic diseases [RCV004068921]|Pseudohypoaldosteronism type 2B [RCV005021596]|not provided [RCV002619463]uncertain significance174278117442781174Human2name
156446510CV1947856single nucleotide variantNM_032387.5(WNK4):c.703C>T (p.Arg235Cys)Inborn genetic diseases [RCV004244603]|Pseudohypoaldosteronism type 2B [RCV005021799]|not provided [RCV003118017]uncertain significance174278284242782842Human2name
156146183CV1973839single nucleotide variantNM_032387.5(WNK4):c.3480T>C (p.Ile1160=)not provided [RCV002593997]likely benign174279617142796171Humanname
156012163CV2016835single nucleotide variantNM_032387.5(WNK4):c.587C>A (p.Thr196Asn)Pseudohypoaldosteronism type 2B [RCV005019341]|not provided [RCV002734952]uncertain significance174278128542781285Human1name
155910287CV2032853single nucleotide variantNM_032387.5(WNK4):c.3669C>G (p.Thr1223=)not provided [RCV002750084]likely benign174279651842796518Humanname
155901184CV2043583single nucleotide variantNM_032387.5(WNK4):c.692C>T (p.Pro231Leu)not provided [RCV002770980]uncertain significance174278283142782831Humanname
156160139CV2128674single nucleotide variantNM_032387.5(WNK4):c.374C>G (p.Pro125Arg)Inborn genetic diseases [RCV005288854]|Pseudohypoaldosteronism type 2B [RCV005019502]|not provided [RCV002929213]|not specified [RCV005059093]likely benign|uncertain significance174278107242781072Human2name
156146756CV2130908single nucleotide variantNM_032387.5(WNK4):c.3640C>A (p.Arg1214=)not provided [RCV002982509]likely benign174279648942796489Humanname
156160297CV2136742single nucleotide variantNM_032387.5(WNK4):c.3075G>A (p.Pro1025=)not provided [RCV003005036]likely benign174279567742795677Humanname
156313802CV2143907single nucleotide variantNM_032387.5(WNK4):c.3009G>A (p.Ala1003=)not provided [RCV003011268]|not specified [RCV005419530]benign|likely benign174279550842795508Humanname
156221026CV2173245single nucleotide variantNM_032387.5(WNK4):c.550T>C (p.Ser184Pro)not provided [RCV003025194]uncertain significance174278124842781248Humanname
156032624CV2214487single nucleotide variantNM_032387.5(WNK4):c.650G>A (p.Arg217His)Inborn genetic diseases [RCV002691692]uncertain significance174278278942782789Human1name
156028072CV2238196single nucleotide variantNM_032387.5(WNK4):c.901C>G (p.Arg301Gly)Inborn genetic diseases [RCV002757861]uncertain significance174278404642784046Human1name
156307738CV2249423single nucleotide variantNM_032387.5(WNK4):c.941C>T (p.Thr314Ile)Inborn genetic diseases [RCV002808685]uncertain significance174278408642784086Human1name
155951077CV2267948single nucleotide variantNM_032387.5(WNK4):c.884T>G (p.Val295Gly)Inborn genetic diseases [RCV002840374]uncertain significance174278402942784029Human1name
156030840CV2278757single nucleotide variantNM_032387.5(WNK4):c.977C>A (p.Thr326Lys)Inborn genetic diseases [RCV002845370]uncertain significance174278412242784122Human1name
155902380CV2378507single nucleotide variantNM_032387.5(WNK4):c.533T>C (p.Ile178Thr)Inborn genetic diseases [RCV002748914]uncertain significance174278123142781231Human1name
243062087CV2414293single nucleotide variantNM_032387.5(WNK4):c.716C>A (p.Ser239Ter)Pseudohypoaldosteronism type 2B [RCV003139362]uncertain significance174278285542782855Human1name
329373217CV2455956single nucleotide variantNM_032387.5(WNK4):c.493G>T (p.Val165Leu)Inborn genetic diseases [RCV003210374]|Pseudohypoaldosteronism type 2B [RCV005021855]|not provided [RCV005101325]uncertain significance174278119142781191Human2name
401777879CV2704426single nucleotide variantNM_032387.5(WNK4):c.491C>T (p.Ala164Val)Inborn genetic diseases [RCV003286885]uncertain significance174278118942781189Human1name
401872925CV2793085single nucleotide variantNM_032387.5(WNK4):c.959G>A (p.Gly320Glu)Inborn genetic diseases [RCV003381816]uncertain significance174278410442784104Human1name
405133229CV2959227single nucleotide variantNM_032387.5(WNK4):c.986G>T (p.Arg329Leu)not provided [RCV003668498]uncertain significance174278413142784131Humanname
405242394CV2967293single nucleotide variantNM_032387.5(WNK4):c.704G>A (p.Arg235His)Pseudohypoaldosteronism type 2B [RCV005014834]|not provided [RCV003684343]uncertain significance174278284342782843Human1name
405196982CV2976171single nucleotide variantNM_032387.5(WNK4):c.824G>A (p.Arg275Gln)not provided [RCV003677769]uncertain significance174278396942783969Humanname
405019653CV3001887single nucleotide variantNM_032387.5(WNK4):c.920A>C (p.Asn307Thr)not provided [RCV003694709]uncertain significance174278406542784065Humanname
405192411CV3069923single nucleotide variantNM_032387.5(WNK4):c.3519G>A (p.Pro1173=)Pseudohypoaldosteronism type 2B [RCV005014929]|not provided [RCV003729722]uncertain significance174279621042796210Human1name
405222802CV3158324single nucleotide variantNM_032387.5(WNK4):c.3412C>T (p.Leu1138=)not provided [RCV003863820]likely benign174279601442796014Humanname
11620856CV328526single nucleotide variantNM_032387.5(WNK4):c.679G>T (p.Gly227Trp)Inborn genetic diseases [RCV004965410]|Pseudohypoaldosteronism type 2B [RCV000341945]|not provided [RCV002522968]benign|likely benign|uncertain significance174278281842782818Human2name
405812083CV3352904single nucleotide variantNM_032387.5(WNK4):c.500C>A (p.Thr167Lys)Inborn genetic diseases [RCV004483104]uncertain significance174278119842781198Human1name
407524757CV3487949single nucleotide variantNM_032387.5(WNK4):c.842G>A (p.Ser281Asn)Inborn genetic diseases [RCV004678544]uncertain significance174278398742783987Human1name
407524764CV3487952single nucleotide variantNM_032387.5(WNK4):c.821C>T (p.Pro274Leu)Inborn genetic diseases [RCV004678547]uncertain significance174278396642783966Human1name
407476869CV3494957single nucleotide variantNM_032387.5(WNK4):c.812A>T (p.Glu271Val)not specified [RCV004690858]uncertain significance174278395742783957Humanname
407573208CV3498852duplicationNM_032387.5(WNK4):c.2605dup (p.Thr869fs)not specified [RCV004699821]uncertain significance174279502542795026Humanname
596923093CV3530254single nucleotide variantNM_032387.5(WNK4):c.673C>G (p.Leu225Val)not provided [RCV004776853]uncertain significance174278281242782812Humanname
597628069CV3624173single nucleotide variantNM_032387.5(WNK4):c.623G>A (p.Arg208Gln)Inborn genetic diseases [RCV004967481]|Pseudohypoaldosteronism type 2B [RCV005017323]likely benign|uncertain significance174278276242782762Human2name
597631013CV3624175single nucleotide variantNM_032387.5(WNK4):c.370C>T (p.Arg124Cys)Inborn genetic diseases [RCV004967483]uncertain significance174278106842781068Human1name
597631026CV3624181single nucleotide variantNM_032387.5(WNK4):c.997G>T (p.Ala333Ser)Inborn genetic diseases [RCV004967489]uncertain significance174278414242784142Human1name
597631032CV3624183single nucleotide variantNM_032387.5(WNK4):c.887C>T (p.Pro296Leu)Inborn genetic diseases [RCV004967491]uncertain significance174278403242784032Human1name
597631039CV3624186single nucleotide variantNM_032387.5(WNK4):c.769A>G (p.Met257Val)Inborn genetic diseases [RCV004967494]uncertain significance174278290842782908Human1name
597769320CV3709033single nucleotide variantNM_032387.5(WNK4):c.314C>G (p.Pro105Arg)Pseudohypoaldosteronism type 2B [RCV005020253]uncertain significance174278101242781012Human1name
597769326CV3709034single nucleotide variantNM_032387.5(WNK4):c.337G>A (p.Gly113Arg)Pseudohypoaldosteronism type 2B [RCV005020254]uncertain significance174278103542781035Human1name
597769331CV3709035single nucleotide variantNM_032387.5(WNK4):c.412G>T (p.Glu138Ter)Pseudohypoaldosteronism type 2B [RCV005020255]uncertain significance174278111042781110Human1name
597769336CV3709036single nucleotide variantNM_032387.5(WNK4):c.440C>T (p.Ala147Val)Pseudohypoaldosteronism type 2B [RCV005020256]uncertain significance174278113842781138Human1name
597769343CV3709037single nucleotide variantNM_032387.5(WNK4):c.656C>T (p.Ser219Leu)Pseudohypoaldosteronism type 2B [RCV005020257]uncertain significance174278279542782795Human1name
597769353CV3709039single nucleotide variantNM_032387.5(WNK4):c.685C>T (p.Gln229Ter)Pseudohypoaldosteronism type 2B [RCV005020259]uncertain significance174278282442782824Human1name
597769359CV3709040single nucleotide variantNM_032387.5(WNK4):c.716C>T (p.Ser239Leu)Pseudohypoaldosteronism type 2B [RCV005020260]uncertain significance174278285542782855Human1name
597769366CV3709041single nucleotide variantNM_032387.5(WNK4):c.779G>A (p.Gly260Asp)Pseudohypoaldosteronism type 2B [RCV005020261]uncertain significance174278291842782918Human1name
597769372CV3709042single nucleotide variantNM_032387.5(WNK4):c.904G>C (p.Asp302His)Pseudohypoaldosteronism type 2B [RCV005020262]uncertain significance174278404942784049Human1name
597769377CV3709043single nucleotide variantNM_032387.5(WNK4):c.932C>T (p.Thr311Met)Pseudohypoaldosteronism type 2B [RCV005020263]uncertain significance174278407742784077Human1name
597769382CV3709044single nucleotide variantNM_032387.5(WNK4):c.956T>C (p.Ile319Thr)Pseudohypoaldosteronism type 2B [RCV005020264]uncertain significance174278410142784101Human1name
597769389CV3709045single nucleotide variantNM_032387.5(WNK4):c.958G>C (p.Gly320Arg)Pseudohypoaldosteronism type 2B [RCV005020265]uncertain significance174278410342784103Human1name
597769394CV3709046single nucleotide variantNM_032387.5(WNK4):c.963C>G (p.Asp321Glu)Pseudohypoaldosteronism type 2B [RCV005020266]uncertain significance174278410842784108Human1name
597769400CV3709047single nucleotide variantNM_032387.5(WNK4):c.977C>T (p.Thr326Met)Pseudohypoaldosteronism type 2B [RCV005020267]uncertain significance174278412242784122Human1name
597769509CV3709071deletionNM_032387.5(WNK4):c.1668del (p.Glu557fs)Pseudohypoaldosteronism type 2B [RCV005020286]uncertain significance174278746942787469Human1name
597769561CV3709081duplicationNM_032387.5(WNK4):c.1822dup (p.Val608fs)Pseudohypoaldosteronism type 2B [RCV005020295]|not provided [RCV005112673]uncertain significance174278785142787852Human1name
597769778CV3709096duplicationNM_032387.5(WNK4):c.2325dup (p.Val776fs)Pseudohypoaldosteronism type 2B [RCV005020311]uncertain significance174279464042794641Human1name
597769935CV3709129single nucleotide variantNM_032387.5(WNK4):c.3627C>T (p.Gly1209=)Pseudohypoaldosteronism type 2B [RCV005020343]uncertain significance174279631842796318Human1name
597838894CV3736943single nucleotide variantNM_032387.5(WNK4):c.512G>A (p.Gly171Asp)not provided [RCV005064423]uncertain significance174278121042781210Humanname
597898086CV3740784duplicationNM_032387.5(WNK4):c.1398dup (p.Arg467fs)not provided [RCV005071947]uncertain significance174278539842785399Humanname
597881567CV3763849single nucleotide variantNM_032387.5(WNK4):c.484A>G (p.Thr162Ala)not provided [RCV005109249]uncertain significance174278118242781182Humanname
597970061CV3791816single nucleotide variantNM_032387.5(WNK4):c.622C>T (p.Arg208Trp)not provided [RCV005141633]uncertain significance174278276142782761Humanname
597964668CV3792529single nucleotide variantNM_032387.5(WNK4):c.3366C>T (p.Ser1122=)not provided [RCV005139896]benign174279596842795968Humanname
597961808CV3840844single nucleotide variantNM_032387.5(WNK4):c.3567C>T (p.Leu1189=)not provided [RCV005193137]likely benign174279625842796258Humanname
597888727CV3859547single nucleotide variantNM_032387.5(WNK4):c.3219C>T (p.Ser1073=)not provided [RCV005200203]likely benign174279582142795821Humanname
598190067CV4008784single nucleotide variantNM_032387.5(WNK4):c.741G>C (p.Gln247His)Pseudohypoaldosteronism type 2B [RCV005396283]uncertain significance174278288042782880Human1name
616934267CV4012261single nucleotide variantNM_032387.5(WNK4):c.3033G>A (p.Pro1011=)not specified [RCV005409297]likely benign174279563542795635Humanname
8621595CV75569single nucleotide variantNM_032387.5(WNK4):c.973G>A (p.Ala325Thr)not provided [RCV000054791]uncertain significance174278411842784118Humanname
28906068CV877570single nucleotide variantNM_032387.5(WNK4):c.316C>A (p.Pro106Thr)Pseudohypoaldosteronism type 2B [RCV001126847]uncertain significance174278101442781014Human1name
28906071CV877571single nucleotide variantNM_032387.5(WNK4):c.383C>G (p.Pro128Arg)Inborn genetic diseases [RCV002556765]|Pseudohypoaldosteronism type 2B [RCV001126848]benign|uncertain significance174278108142781081Human2name
28906076CV877573single nucleotide variantNM_032387.5(WNK4):c.560C>T (p.Thr187Met)Pseudohypoaldosteronism type 2B [RCV001126850]uncertain significance174278125842781258Human1name
28906077CV877574single nucleotide variantNM_032387.5(WNK4):c.643C>T (p.Arg215Trp)Inborn genetic diseases [RCV004963135]|Pseudohypoaldosteronism type 2B [RCV001126851]|not provided [RCV003769215]uncertain significance174278278242782782Human2name
28906078CV877575single nucleotide variantNM_032387.5(WNK4):c.716C>G (p.Ser239Trp)Inborn genetic diseases [RCV004678966]|Pseudohypoaldosteronism type 2B [RCV001126852]|not provided [RCV001355913]likely benign|uncertain significance174278285542782855Human2name
28906810CV877577single nucleotide variantNM_032387.5(WNK4):c.937C>G (p.Pro313Ala)Inborn genetic diseases [RCV002556783]|Pseudohypoaldosteronism type 2B [RCV001127250]uncertain significance174278408242784082Human2name
126743385CV1021652deletionNM_032387.5(WNK4):c.3133del (p.Ser1045fs)Pseudohypoaldosteronism type 2B [RCV005367873]pathogenic|uncertain significance174279573442795734Human1name
127278815CV1104851single nucleotide variantNM_032387.5(WNK4):c.1573C>G (p.Arg525Gly)Pseudohypoaldosteronism type 2B [RCV005014565]|not provided [RCV001445335]likely benign174278737442787374Human1name
150338030CV1166721deletionNM_032387.5(WNK4):c.3108del (p.Thr1037fs)Pseudohypoaldosteronism type 2B [RCV001533200]likely pathogenic174279570642795706Human1name
155645775CV1709129single nucleotide variantNM_032387.5(WNK4):c.2258G>A (p.Gly753Asp)not provided [RCV002292005]uncertain significance174279369242793692Humanname
155935839CV1916445single nucleotide variantNM_032387.5(WNK4):c.1555C>T (p.Arg519Ter)not provided [RCV002615299]uncertain significance174278735642787356Humanname
156069914CV1928076single nucleotide variantNM_032387.5(WNK4):c.1531C>T (p.Arg511Cys)Inborn genetic diseases [RCV002638568]|not provided [RCV002654899]benign|uncertain significance174278733242787332Human1name
156168040CV1959996deletionNM_032387.5(WNK4):c.3673del (p.Ser1225fs)not provided [RCV002573729]uncertain significance174279652242796522Humanname
156236882CV1982468single nucleotide variantNM_032387.5(WNK4):c.1456G>A (p.Glu486Lys)not provided [RCV002627000]uncertain significance174278546242785462Humanname
156138321CV2006486single nucleotide variantNM_032387.5(WNK4):c.1246G>T (p.Asp416Tyr)Pseudohypoaldosteronism type 2B [RCV005019321]|not provided [RCV002663474]uncertain significance174278517242785172Human1name
155941639CV2022416single nucleotide variantNM_032387.5(WNK4):c.1306C>A (p.Arg436Ser)Inborn genetic diseases [RCV002730155]|not provided [RCV002717275]uncertain significance174278531242785312Human1name
156029223CV2022569single nucleotide variantNM_032387.5(WNK4):c.2110C>T (p.Arg704Ter)not provided [RCV002735733]uncertain significance174278875042788750Humanname
156174230CV2026563single nucleotide variantNM_032387.5(WNK4):c.1822G>T (p.Val608Leu)not provided [RCV002765412]uncertain significance174278785842787858Humanname
156038519CV2047792single nucleotide variantNM_032387.5(WNK4):c.1666C>G (p.Pro556Ala)Pseudohypoaldosteronism type 2B [RCV005398987]|not provided [RCV002781403]uncertain significance174278746742787467Human1name
156339905CV2092600single nucleotide variantNM_032387.5(WNK4):c.2536A>G (p.Ile846Val)Pseudohypoaldosteronism type 2B [RCV005019450]|not provided [RCV002900416]uncertain significance174279495742794957Human1name
156025429CV2106082single nucleotide variantNM_032387.5(WNK4):c.1822G>A (p.Val608Met)not provided [RCV002923266]likely benign174278785842787858Humanname
156027084CV2108850single nucleotide variantNM_032387.5(WNK4):c.2893C>T (p.Leu965Phe)Pseudohypoaldosteronism type 2B [RCV005399020]|WNK4-related disorder [RCV004753591]|not provided [RCV002909891]benign|likely benign|uncertain significance174279531442795314Human1name , trait , alternate_id
156318608CV2111826single nucleotide variantNM_032387.5(WNK4):c.2006G>A (p.Arg669Gln)not provided [RCV002937604]likely benign174278837342788373Humanname
156195120CV2113615single nucleotide variantNM_032387.5(WNK4):c.1915G>A (p.Gly639Arg)Inborn genetic diseases [RCV002957182]|not provided [RCV002933822]likely benign|uncertain significance174278818142788181Human1name
156020567CV2118568single nucleotide variantNM_032387.5(WNK4):c.2527T>C (p.Phe843Leu)not provided [RCV002948752]uncertain significance174279494842794948Humanname
155910440CV2141540single nucleotide variantNM_032387.5(WNK4):c.2080C>T (p.Gln694Ter)Pseudohypoaldosteronism type 2B [RCV005019526]|not provided [RCV002968007]uncertain significance174278872042788720Human1name
156097900CV2183692single nucleotide variantNM_032387.5(WNK4):c.2095A>G (p.Lys699Glu)not provided [RCV003054612]uncertain significance174278873542788735Humanname
156160681CV2236374single nucleotide variantNM_032387.5(WNK4):c.1033C>T (p.Pro345Ser)Inborn genetic diseases [RCV002787465]uncertain significance174278444242784442Human1name
156081456CV2249063single nucleotide variantNM_032387.5(WNK4):c.1672C>T (p.Pro558Ser)Inborn genetic diseases [RCV002797979]uncertain significance174278747342787473Human1name
8597613CV22699single nucleotide variantNM_032387.5(WNK4):c.1693C>G (p.Gln565Glu)Pseudohypoaldosteronism type 2B [RCV000008099]pathogenic174278749442787494Human1name
8597614CV22700single nucleotide variantNM_032387.5(WNK4):c.1684G>A (p.Glu562Lys)Pseudohypoaldosteronism type 2B [RCV000008100]pathogenic174278748542787485Human1name
8597615CV22701single nucleotide variantNM_032387.5(WNK4):c.1691A>C (p.Asp564Ala)Pseudohypoaldosteronism type 2B [RCV000008101]pathogenic174278749242787492Human1name
156024880CV2273917single nucleotide variantNM_032387.5(WNK4):c.2746C>T (p.Pro916Ser)Inborn genetic diseases [RCV002844924]uncertain significance174279516742795167Human1name
156086761CV2289994single nucleotide variantNM_032387.5(WNK4):c.1391G>C (p.Arg464Pro)Inborn genetic diseases [RCV002869586]uncertain significance174278539742785397Human1name
156286411CV2292080single nucleotide variantNM_032387.5(WNK4):c.2155A>G (p.Met719Val)Inborn genetic diseases [RCV002896848]|not provided [RCV003708711]uncertain significance174278879542788795Human1name
156081789CV2292850single nucleotide variantNM_032387.5(WNK4):c.2885G>C (p.Ser962Thr)Inborn genetic diseases [RCV002869302]uncertain significance174279530642795306Human1name
155901357CV2294452single nucleotide variantNM_032387.5(WNK4):c.2659A>G (p.Thr887Ala)Inborn genetic diseases [RCV002901116]uncertain significance174279508042795080Human1name
156293865CV2306368single nucleotide variantNM_032387.5(WNK4):c.1700A>G (p.Gln567Arg)Inborn genetic diseases [RCV002897375]uncertain significance174278750142787501Human1name
156357780CV2318362single nucleotide variantNM_032387.5(WNK4):c.2014C>A (p.Pro672Thr)Inborn genetic diseases [RCV002940873]uncertain significance174278838142788381Human1name
156101360CV2347798single nucleotide variantNM_032387.5(WNK4):c.2905G>A (p.Val969Ile)Inborn genetic diseases [RCV002980016]|Pseudohypoaldosteronism type 2B [RCV005021741]uncertain significance174279532642795326Human2name
329385989CV2428163single nucleotide variantNM_032387.5(WNK4):c.2671A>G (p.Thr891Ala)Inborn genetic diseases [RCV003189501]uncertain significance174279509242795092Human1name
329392630CV2439078single nucleotide variantNM_032387.5(WNK4):c.1328C>T (p.Ala443Val)Inborn genetic diseases [RCV003192762]|Pseudohypoaldosteronism type 2B [RCV005021845]uncertain significance174278533442785334Human2name
329370580CV2461769single nucleotide variantNM_032387.5(WNK4):c.2422G>A (p.Gly808Arg)Inborn genetic diseases [RCV003209453]uncertain significance174279484342794843Human1name
329351550CV2462097single nucleotide variantNM_032387.5(WNK4):c.2902C>G (p.Pro968Ala)Inborn genetic diseases [RCV003199870]uncertain significance174279532342795323Human1name
401767214CV2681530single nucleotide variantNM_032387.5(WNK4):c.2839G>A (p.Gly947Arg)Inborn genetic diseases [RCV003259739]uncertain significance174279526042795260Human1name
401728192CV2685939single nucleotide variantNM_032387.5(WNK4):c.1241G>C (p.Arg414Pro)Inborn genetic diseases [RCV003270480]|not provided [RCV005102548]uncertain significance174278516742785167Human1name
401746966CV2698749single nucleotide variantNM_032387.5(WNK4):c.1459G>A (p.Glu487Lys)Inborn genetic diseases [RCV003242114]|Pseudohypoaldosteronism type 2B [RCV005012845]likely benign|uncertain significance174278546542785465Human2name
401778409CV2709088single nucleotide variantNM_032387.5(WNK4):c.1370T>A (p.Leu457Gln)Inborn genetic diseases [RCV003287050]uncertain significance174278537642785376Human1name
401772538CV2712782single nucleotide variantNM_032387.5(WNK4):c.2357T>C (p.Leu786Pro)Inborn genetic diseases [RCV003261881]uncertain significance174279477842794778Human1name
401744341CV2730689single nucleotide variantNM_032387.5(WNK4):c.1829C>T (p.Ser610Phe)Inborn genetic diseases [RCV003293286]uncertain significance174278786542787865Human1name
401796423CV2740607single nucleotide variantNM_032387.5(WNK4):c.1294T>C (p.Phe432Leu)not provided [RCV003321277]uncertain significance174278530042785300Humanname
401870801CV2766380single nucleotide variantNM_032387.5(WNK4):c.2326G>A (p.Val776Ile)Inborn genetic diseases [RCV003361339]|not provided [RCV003730548]likely benign|uncertain significance174279464442794644Human1name
401890405CV2768189single nucleotide variantNM_032387.5(WNK4):c.1352C>G (p.Pro451Arg)Inborn genetic diseases [RCV003354408]|Pseudohypoaldosteronism type 2B [RCV005021921]uncertain significance174278535842785358Human2name
401882246CV2781594single nucleotide variantNM_032387.5(WNK4):c.1300G>A (p.Glu434Lys)Inborn genetic diseases [RCV003365223]uncertain significance174278530642785306Human1name
402489295CV2862057single nucleotide variantNM_032387.5(WNK4):c.2723C>T (p.Pro908Leu)Inborn genetic diseases [RCV004963685]|Pseudohypoaldosteronism type 2B [RCV005022010]|not provided [RCV003544789]likely benign|uncertain significance174279514442795144Human2name
405210131CV2866939single nucleotide variantNM_032387.5(WNK4):c.1564G>T (p.Glu522Ter)not provided [RCV003552382]uncertain significance174278736542787365Humanname
405193438CV2872193duplicationNM_032387.5(WNK4):c.3653dup (p.Ser1219fs)not provided [RCV003550561]uncertain significance174279650142796502Humanname
405191441CV2875818single nucleotide variantNM_032387.5(WNK4):c.2185G>C (p.Glu729Gln)not provided [RCV003550431]uncertain significance174279361942793619Humanname
405155902CV2894361single nucleotide variantNM_032387.5(WNK4):c.1352C>T (p.Pro451Leu)Pseudohypoaldosteronism type 2B [RCV005014763]|not provided [RCV003561976]uncertain significance174278535842785358Human1name
402472068CV2912142single nucleotide variantNM_032387.5(WNK4):c.1694A>C (p.Gln565Pro)not provided [RCV003570707]uncertain significance174278749542787495Humanname
405086099CV2943191single nucleotide variantNM_032387.5(WNK4):c.1090T>G (p.Cys364Gly)not provided [RCV003664961]uncertain significance174278449942784499Humanname
405071818CV2946562single nucleotide variantNM_032387.5(WNK4):c.1967G>A (p.Gly656Glu)Pseudohypoaldosteronism type 2B [RCV005014820]|not provided [RCV003659391]uncertain significance174278833442788334Human1name
405242958CV3043865single nucleotide variantNM_032387.5(WNK4):c.2807C>T (p.Thr936Ile)not provided [RCV003719623]uncertain significance174279522842795228Humanname
405253597CV3044452single nucleotide variantNM_032387.5(WNK4):c.2575A>C (p.Thr859Pro)not provided [RCV003722512]uncertain significance174279499642794996Humanname
405221183CV3060139single nucleotide variantNM_032387.5(WNK4):c.1862C>T (p.Ser621Leu)Pseudohypoaldosteronism type 2B [RCV005014913]|not provided [RCV003733335]uncertain significance174278789842787898Human1name
405232837CV3157651single nucleotide variantNM_032387.5(WNK4):c.1481C>G (p.Ala494Gly)not provided [RCV003865601]uncertain significance174278728242787282Humanname
405158412CV3159805single nucleotide variantNM_032387.5(WNK4):c.1913C>G (p.Pro638Arg)not provided [RCV003856876]uncertain significance174278817942788179Humanname
402502846CV3181131deletionNM_032387.5(WNK4):c.3715del (p.Asp1239fs)not provided [RCV003878148]uncertain significance174279656142796561Humanname
405654112CV3228110single nucleotide variantNM_032387.5(WNK4):c.2447C>G (p.Pro816Arg)Pseudohypoaldosteronism type 2B [RCV005015114]|not specified [RCV003994844]uncertain significance174279486842794868Human1name
11617651CV328537single nucleotide variantNM_032387.5(WNK4):c.1523G>A (p.Arg508His)Pseudohypoaldosteronism type 2B [RCV000306761]|not provided [RCV002056600]likely benign174278732442787324Human1name
11618780CV328538single nucleotide variantNM_032387.5(WNK4):c.1664C>G (p.Pro555Arg)Pseudohypoaldosteronism type 2B [RCV000318029]|not provided [RCV000962593]benign|likely benign174278746542787465Human1name
11622555CV328556single nucleotide variantNM_032387.5(WNK4):c.2837C>G (p.Pro946Arg)Inborn genetic diseases [RCV002521110]|Pseudohypoaldosteronism type 2A [RCV000362014]|Pseudohypoaldosteronism type 2B [RCV005016712]likely benign|uncertain significance174279525842795258Human4name
11613087CV328566single nucleotide variantNM_032387.5(WNK4):c.2842C>A (p.Leu948Ile)Pseudohypoaldosteronism type 2B [RCV000265130]benign|likely benign174279526342795263Human1name
405812046CV3352885single nucleotide variantNM_032387.5(WNK4):c.1160A>G (p.Lys387Arg)Inborn genetic diseases [RCV004483085]uncertain significance174278456942784569Human1name
405812050CV3352887single nucleotide variantNM_032387.5(WNK4):c.1469A>G (p.Gln490Arg)Inborn genetic diseases [RCV004483087]|Pseudohypoaldosteronism type 2B [RCV005015151]uncertain significance174278547542785475Human2name
405812052CV3352888single nucleotide variantNM_032387.5(WNK4):c.1522C>T (p.Arg508Cys)Inborn genetic diseases [RCV004483088]|Pseudohypoaldosteronism type 2B [RCV005006422]uncertain significance174278732342787323Human2name
405812054CV3352889single nucleotide variantNM_032387.5(WNK4):c.1556G>A (p.Arg519Gln)Inborn genetic diseases [RCV004483089]uncertain significance174278735742787357Human1name
405812055CV3352890single nucleotide variantNM_032387.5(WNK4):c.1816G>C (p.Gly606Arg)Inborn genetic diseases [RCV004483090]uncertain significance174278785242787852Human1name
405812057CV3352891single nucleotide variantNM_032387.5(WNK4):c.2111G>A (p.Arg704Gln)Inborn genetic diseases [RCV004483091]uncertain significance174278875142788751Human1name
405812063CV3352894single nucleotide variantNM_032387.5(WNK4):c.2657C>T (p.Thr886Met)Inborn genetic diseases [RCV004483094]likely benign174279507842795078Human1name
405812065CV3352895single nucleotide variantNM_032387.5(WNK4):c.2980C>T (p.Arg994Trp)Inborn genetic diseases [RCV004483095]|Pseudohypoaldosteronism type 2B [RCV005015152]uncertain significance174279547942795479Human2name
405812067CV3352896single nucleotide variantNM_032387.5(WNK4):c.2981G>A (p.Arg994Gln)Inborn genetic diseases [RCV004483096]|Pseudohypoaldosteronism type 2B [RCV005015153]uncertain significance174279548042795480Human2name
11621230CV338482single nucleotide variantNM_032387.5(WNK4):c.1339G>A (p.Asp447Asn)Pseudohypoaldosteronism type 2B [RCV000346224]likely benign|uncertain significance174278534542785345Human1name
11618554CV338493single nucleotide variantNM_032387.5(WNK4):c.1574G>A (p.Arg525His)Pseudohypoaldosteronism type 2B [RCV000314959]benign|likely benign174278737542787375Human1name
11623833CV338502single nucleotide variantNM_032387.5(WNK4):c.1885C>T (p.Arg629Cys)Pseudohypoaldosteronism type 2B [RCV000378074]|not provided [RCV001840486]benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance174278815142788151Human1name
11623119CV338507single nucleotide variantNM_032387.5(WNK4):c.2474C>T (p.Pro825Leu)Pseudohypoaldosteronism type 2B [RCV000368894]|not provided [RCV000968742]benign174279489542794895Human1name
11624281CV338509single nucleotide variantNM_032387.5(WNK4):c.2900C>G (p.Pro967Arg)Pseudohypoaldosteronism type 2B [RCV000384224]uncertain significance174279532142795321Human1name
11626247CV344566single nucleotide variantNM_032387.5(WNK4):c.1801G>T (p.Ala601Ser)Pseudohypoaldosteronism type 2B [RCV000259612]|not provided [RCV001723910]benign174278783742787837Human1name
11627640CV344567single nucleotide variantNM_032387.5(WNK4):c.1853G>T (p.Cys618Phe)Pseudohypoaldosteronism type 2B [RCV000286594]|not provided [RCV002522970]benign|likely benign174278788942787889Human1name
11632249CV344570single nucleotide variantNM_032387.5(WNK4):c.2005C>T (p.Arg669Trp)Inborn genetic diseases [RCV003243078]|Pseudohypoaldosteronism type 2B [RCV000402811]|not provided [RCV002522972]likely benign|conflicting interpretations of pathogenicity|uncertain significance174278837242788372Human2name
11627871CV344571single nucleotide variantNM_032387.5(WNK4):c.2207G>A (p.Arg736Gln)Pseudohypoaldosteronism type 2B [RCV000289222]benign|likely benign174279364142793641Human1name
11630472CV344582single nucleotide variantNM_032387.5(WNK4):c.2213G>A (p.Arg738Gln)Pseudohypoaldosteronism type 2B [RCV000351244]|not provided [RCV002521109]|not specified [RCV004701410]benign|likely benign|uncertain significance174279364742793647Human1name
11628452CV344593single nucleotide variantNM_032387.5(WNK4):c.2588T>G (p.Leu863Arg)Pseudohypoaldosteronism type 2B [RCV000301297]benign|likely benign174279500942795009Human1name
11629582CV344596single nucleotide variantNM_032387.5(WNK4):c.2881C>T (p.Pro961Ser)Pseudohypoaldosteronism type 2B [RCV000327309]|not provided [RCV001528080]benign174279530242795302Human1name
11627881CV345975single nucleotide variantNM_032387.5(WNK4):c.1888T>C (p.Ser630Pro)Pseudohypoaldosteronism type 2B [RCV000290625]|WNK4-related disorder [RCV003950102]|not provided [RCV002522971]benign|likely benign174278815442788154Human1name , trait , alternate_id
11628914CV345978single nucleotide variantNM_032387.5(WNK4):c.2369C>A (p.Thr790Asn)Pseudohypoaldosteronism type 2B [RCV000311885]|not provided [RCV000953043]|not specified [RCV004782356]benign|likely benign174279479042794790Human1name
11630587CV345980single nucleotide variantNM_032387.5(WNK4):c.2672C>T (p.Thr891Met)Pseudohypoaldosteronism type 2B [RCV000354003]|not provided [RCV000971123]benign|likely benign174279509342795093Human1name
407524746CV3487943single nucleotide variantNM_032387.5(WNK4):c.2611G>A (p.Glu871Lys)Inborn genetic diseases [RCV004678539]|Pseudohypoaldosteronism type 2B [RCV005015235]uncertain significance174279503242795032Human2name
407524753CV3487946single nucleotide variantNM_032387.5(WNK4):c.2212C>T (p.Arg738Trp)Inborn genetic diseases [RCV004678542]|Pseudohypoaldosteronism type 2B [RCV005017205]likely benign|uncertain significance174279364642793646Human2name
407524767CV3487953single nucleotide variantNM_032387.5(WNK4):c.2453C>T (p.Ser818Phe)Inborn genetic diseases [RCV004678548]uncertain significance174279487442794874Human1name
407524774CV3487957single nucleotide variantNM_032387.5(WNK4):c.2747C>T (p.Pro916Leu)Inborn genetic diseases [RCV004678551]uncertain significance174279516842795168Human1name
408386221CV3522423single nucleotide variantNM_032387.5(WNK4):c.1562G>A (p.Arg521His)Inborn genetic diseases [RCV004968633]|Pseudohypoaldosteronism type 2B [RCV005017262]|not provided [RCV004767783]uncertain significance174278736342787363Human2name
596945938CV3550307single nucleotide variantNM_032387.5(WNK4):c.2263A>G (p.Met755Val)Pseudohypoaldosteronism type 2B [RCV004818846]uncertain significance174279369742793697Human1name
597631007CV3624169single nucleotide variantNM_032387.5(WNK4):c.2656A>G (p.Thr886Ala)Inborn genetic diseases [RCV004967478]|not provided [RCV005110004]likely benign|uncertain significance174279507742795077Human1name
597631009CV3624170single nucleotide variantNM_032387.5(WNK4):c.2344T>C (p.Ser782Pro)Inborn genetic diseases [RCV004967479]uncertain significance174279466242794662Human1name
597628066CV3624172single nucleotide variantNM_032387.5(WNK4):c.2234A>T (p.Glu745Val)Inborn genetic diseases [RCV004967480]|Pseudohypoaldosteronism type 2B [RCV005017322]uncertain significance174279366842793668Human2name
597631016CV3624176single nucleotide variantNM_032387.5(WNK4):c.1603C>T (p.Pro535Ser)Inborn genetic diseases [RCV004967484]uncertain significance174278740442787404Human1name
597631019CV3624177single nucleotide variantNM_032387.5(WNK4):c.1561C>T (p.Arg521Cys)Inborn genetic diseases [RCV004967485]uncertain significance174278736242787362Human1name
597631021CV3624178single nucleotide variantNM_032387.5(WNK4):c.1134C>G (p.Cys378Trp)Inborn genetic diseases [RCV004967486]uncertain significance174278454342784543Human1name
597631023CV3624179single nucleotide variantNM_032387.5(WNK4):c.2771T>A (p.Leu924His)Inborn genetic diseases [RCV004967487]uncertain significance174279519242795192Human1name
597631037CV3624185single nucleotide variantNM_032387.5(WNK4):c.2782A>G (p.Ser928Gly)Inborn genetic diseases [RCV004967493]uncertain significance174279520342795203Human1name
12791738CV362585single nucleotide variantNM_032387.5(WNK4):c.1679A>G (p.Glu560Gly)Pseudohypoaldosteronism type 2B [RCV000417202]pathogenic|not provided174278748042787480Human1name
12791736CV362586single nucleotide variantNM_032387.5(WNK4):c.1682C>T (p.Pro561Leu)Pseudohypoaldosteronism type 2B [RCV000417199]pathogenic|not provided174278748342787483Human1name
12791739CV362587single nucleotide variantNM_032387.5(WNK4):c.1690G>C (p.Asp564His)Pseudohypoaldosteronism type 2B [RCV000417204]pathogenic|not provided174278749142787491Human1name
597769405CV3709048single nucleotide variantNM_032387.5(WNK4):c.1033C>G (p.Pro345Ala)Pseudohypoaldosteronism type 2B [RCV005020268]uncertain significance174278444242784442Human1name
597769411CV3709049single nucleotide variantNM_032387.5(WNK4):c.1040T>C (p.Met347Thr)Pseudohypoaldosteronism type 2B [RCV005020269]|not provided [RCV005112672]uncertain significance174278444942784449Human1name
597769734CV3709050single nucleotide variantNM_032387.5(WNK4):c.1102A>G (p.Met368Val)Pseudohypoaldosteronism type 2B [RCV005020270]uncertain significance174278451142784511Human1name
597769423CV3709051single nucleotide variantNM_032387.5(WNK4):c.1121C>T (p.Pro374Leu)Pseudohypoaldosteronism type 2B [RCV005020271]uncertain significance174278453042784530Human1name
597769435CV3709053single nucleotide variantNM_032387.5(WNK4):c.1210G>A (p.Glu404Lys)Pseudohypoaldosteronism type 2B [RCV005020273]uncertain significance174278513642785136Human1name
597769442CV3709054single nucleotide variantNM_032387.5(WNK4):c.1232G>A (p.Gly411Asp)Pseudohypoaldosteronism type 2B [RCV005020274]uncertain significance174278515842785158Human1name
597769448CV3709055single nucleotide variantNM_032387.5(WNK4):c.1287C>A (p.His429Gln)Pseudohypoaldosteronism type 2B [RCV005020275]uncertain significance174278529342785293Human1name
597769453CV3709056single nucleotide variantNM_032387.5(WNK4):c.1318G>A (p.Val440Met)Pseudohypoaldosteronism type 2B [RCV005020276]uncertain significance174278532442785324Human1name
597769458CV3709057single nucleotide variantNM_032387.5(WNK4):c.1333G>C (p.Glu445Gln)Pseudohypoaldosteronism type 2B [RCV005020277]uncertain significance174278533942785339Human1name
597717000CV3709059single nucleotide variantNM_032387.5(WNK4):c.1360A>G (p.Lys454Glu)Pseudohypoaldosteronism type 2B [RCV005010237]uncertain significance174278536642785366Human1name
597716990CV3709060single nucleotide variantNM_032387.5(WNK4):c.1387C>T (p.Arg463Trp)Pseudohypoaldosteronism type 2B [RCV005010238]uncertain significance174278539342785393Human1name
597769465CV3709061single nucleotide variantNM_032387.5(WNK4):c.1412A>G (p.Asn471Ser)Pseudohypoaldosteronism type 2B [RCV005020278]uncertain significance174278541842785418Human1name
597716979CV3709062single nucleotide variantNM_032387.5(WNK4):c.1458G>T (p.Glu486Asp)Pseudohypoaldosteronism type 2B [RCV005010239]uncertain significance174278546442785464Human1name
597769476CV3709065single nucleotide variantNM_032387.5(WNK4):c.1526C>T (p.Ala509Val)Pseudohypoaldosteronism type 2B [RCV005020280]likely benign174278732742787327Human1name
597769481CV3709066single nucleotide variantNM_032387.5(WNK4):c.1573C>T (p.Arg525Cys)Pseudohypoaldosteronism type 2B [RCV005020281]uncertain significance174278737442787374Human1name
597769486CV3709067single nucleotide variantNM_032387.5(WNK4):c.1583G>A (p.Arg528Lys)Pseudohypoaldosteronism type 2B [RCV005020282]uncertain significance174278738442787384Human1name
597769494CV3709068single nucleotide variantNM_032387.5(WNK4):c.1598T>C (p.Leu533Pro)Pseudohypoaldosteronism type 2B [RCV005020283]uncertain significance174278739942787399Human1name
597769499CV3709069single nucleotide variantNM_032387.5(WNK4):c.1645G>A (p.Gly549Ser)Pseudohypoaldosteronism type 2B [RCV005020284]uncertain significance174278744642787446Human1name
597769504CV3709070single nucleotide variantNM_032387.5(WNK4):c.1664C>A (p.Pro555His)Pseudohypoaldosteronism type 2B [RCV005020285]uncertain significance174278746542787465Human1name
597769515CV3709072single nucleotide variantNM_032387.5(WNK4):c.1714C>T (p.Arg572Cys)Pseudohypoaldosteronism type 2B [RCV005020287]uncertain significance174278751542787515Human1name
597769523CV3709073single nucleotide variantNM_032387.5(WNK4):c.1715G>A (p.Arg572His)Inborn genetic diseases [RCV005301476]|Pseudohypoaldosteronism type 2B [RCV005020288]uncertain significance174278751642787516Human2name
597769533CV3709075single nucleotide variantNM_032387.5(WNK4):c.1720G>T (p.Ala574Ser)Pseudohypoaldosteronism type 2B [RCV005020290]uncertain significance174278752142787521Human1name
597769543CV3709077single nucleotide variantNM_032387.5(WNK4):c.1768A>G (p.Ser590Gly)Pseudohypoaldosteronism type 2B [RCV005020292]uncertain significance174278780442787804Human1name
597769551CV3709078single nucleotide variantNM_032387.5(WNK4):c.1777G>A (p.Gly593Ser)Pseudohypoaldosteronism type 2B [RCV005020293]uncertain significance174278781342787813Human1name
597769556CV3709079single nucleotide variantNM_032387.5(WNK4):c.1813C>T (p.Pro605Ser)Pseudohypoaldosteronism type 2B [RCV005020294]uncertain significance174278784942787849Human1name
597769571CV3709082single nucleotide variantNM_032387.5(WNK4):c.1906T>G (p.Phe636Val)Pseudohypoaldosteronism type 2B [RCV005020297]uncertain significance174278817242788172Human1name
597769578CV3709083single nucleotide variantNM_032387.5(WNK4):c.1912C>T (p.Pro638Ser)Pseudohypoaldosteronism type 2B [RCV005020298]|not provided [RCV005112674]uncertain significance174278817842788178Human1name
597769585CV3709084single nucleotide variantNM_032387.5(WNK4):c.1940C>T (p.Ala647Val)Pseudohypoaldosteronism type 2B [RCV005020299]uncertain significance174278830742788307Human1name
597769590CV3709085single nucleotide variantNM_032387.5(WNK4):c.1961G>C (p.Gly654Ala)Pseudohypoaldosteronism type 2B [RCV005020300]uncertain significance174278832842788328Human1name
597769602CV3709087single nucleotide variantNM_032387.5(WNK4):c.1991C>T (p.Pro664Leu)Pseudohypoaldosteronism type 2B [RCV005020302]uncertain significance174278835842788358Human1name
597769739CV3709088single nucleotide variantNM_032387.5(WNK4):c.1993G>A (p.Gly665Arg)Pseudohypoaldosteronism type 2B [RCV005020303]uncertain significance174278836042788360Human1name
597769743CV3709089single nucleotide variantNM_032387.5(WNK4):c.2014C>G (p.Pro672Ala)Pseudohypoaldosteronism type 2B [RCV005020304]uncertain significance174278838142788381Human1name
597769748CV3709090single nucleotide variantNM_032387.5(WNK4):c.2017C>G (p.Arg673Gly)Pseudohypoaldosteronism type 2B [RCV005020305]uncertain significance174278838442788384Human1name
597769753CV3709091single nucleotide variantNM_032387.5(WNK4):c.2087A>G (p.His696Arg)Pseudohypoaldosteronism type 2B [RCV005020306]uncertain significance174278872742788727Human1name
597769758CV3709092single nucleotide variantNM_032387.5(WNK4):c.2102T>C (p.Val701Ala)Pseudohypoaldosteronism type 2B [RCV005020307]uncertain significance174278874242788742Human1name
597769767CV3709094single nucleotide variantNM_032387.5(WNK4):c.2188C>T (p.Arg730Ter)Pseudohypoaldosteronism type 2B [RCV005020309]uncertain significance174279362242793622Human1name
597769773CV3709095single nucleotide variantNM_032387.5(WNK4):c.2244G>C (p.Leu748Phe)Pseudohypoaldosteronism type 2B [RCV005020310]uncertain significance174279367842793678Human1name
597769783CV3709097single nucleotide variantNM_032387.5(WNK4):c.2338G>C (p.Asp780His)Pseudohypoaldosteronism type 2B [RCV005020312]uncertain significance174279465642794656Human1name
597769788CV3709098single nucleotide variantNM_032387.5(WNK4):c.2340C>A (p.Asp780Glu)Pseudohypoaldosteronism type 2B [RCV005020313]uncertain significance174279465842794658Human1name
597769798CV3709100single nucleotide variantNM_032387.5(WNK4):c.2402C>T (p.Ser801Phe)Pseudohypoaldosteronism type 2B [RCV005020315]uncertain significance174279482342794823Human1name
597769812CV3709103single nucleotide variantNM_032387.5(WNK4):c.2618C>T (p.Pro873Leu)Pseudohypoaldosteronism type 2B [RCV005020318]uncertain significance174279503942795039Human1name
597769817CV3709104single nucleotide variantNM_032387.5(WNK4):c.2643G>A (p.Trp881Ter)Pseudohypoaldosteronism type 2B [RCV005020319]uncertain significance174279506442795064Human1name
597769822CV3709105single nucleotide variantNM_032387.5(WNK4):c.2668C>G (p.Pro890Ala)Pseudohypoaldosteronism type 2B [RCV005020320]uncertain significance174279508942795089Human1name
597769826CV3709106single nucleotide variantNM_032387.5(WNK4):c.2680C>G (p.Pro894Ala)Inborn genetic diseases [RCV005301477]|Pseudohypoaldosteronism type 2B [RCV005020321]uncertain significance174279510142795101Human2name
597769836CV3709108single nucleotide variantNM_032387.5(WNK4):c.2764C>T (p.Pro922Ser)Pseudohypoaldosteronism type 2B [RCV005020323]uncertain significance174279518542795185Human1name
597769841CV3709109single nucleotide variantNM_032387.5(WNK4):c.2869C>G (p.Pro957Ala)Pseudohypoaldosteronism type 2B [RCV005020324]uncertain significance174279529042795290Human1name
597769846CV3709111single nucleotide variantNM_032387.5(WNK4):c.2915G>C (p.Gly972Ala)Pseudohypoaldosteronism type 2B [RCV005020325]uncertain significance174279533642795336Human1name
597769855CV3709112single nucleotide variantNM_032387.5(WNK4):c.2987T>C (p.Leu996Pro)Pseudohypoaldosteronism type 2B [RCV005020327]uncertain significance174279548642795486Human1name
597769973CV3709137deletionNM_032387.5(WNK4):c.3702del (p.Thr1235fs)Pseudohypoaldosteronism type 2B [RCV005020351]uncertain significance174279655142796551Human1name
597862851CV3745239single nucleotide variantNM_032387.5(WNK4):c.2219T>C (p.Ile740Thr)not provided [RCV005067595]likely benign174279365342793653Humanname
597946224CV3755524single nucleotide variantNM_032387.5(WNK4):c.2321T>C (p.Leu774Pro)not provided [RCV005078533]uncertain significance174279463942794639Humanname
597881576CV3763850single nucleotide variantNM_032387.5(WNK4):c.1310G>A (p.Gly437Asp)not provided [RCV005109250]uncertain significance174278531642785316Humanname
597881601CV3763854single nucleotide variantNM_032387.5(WNK4):c.2750C>T (p.Ser917Phe)not provided [RCV005109254]uncertain significance174279517142795171Humanname
597876884CV3766706single nucleotide variantNM_032387.5(WNK4):c.2228G>A (p.Arg743Gln)not provided [RCV005108646]likely benign174279366242793662Humanname
597878630CV3813712single nucleotide variantNM_032387.5(WNK4):c.2014C>T (p.Pro672Ser)not provided [RCV005149454]uncertain significance174278838142788381Humanname
597956439CV3817970single nucleotide variantNM_032387.5(WNK4):c.2812G>T (p.Ala938Ser)not provided [RCV005162421]uncertain significance174279523342795233Humanname
597925609CV3840417single nucleotide variantNM_032387.5(WNK4):c.1342G>T (p.Gly448Cys)Inborn genetic diseases [RCV005303517]|not provided [RCV005184886]uncertain significance174278534842785348Human1name
598160098CV3897219single nucleotide variantNM_032387.5(WNK4):c.1240C>A (p.Arg414Ser)not provided [RCV005368193]uncertain significance174278516642785166Humanname
598275499CV3937139single nucleotide variantNM_032387.5(WNK4):c.2162A>G (p.Tyr721Cys)Inborn genetic diseases [RCV005304633]uncertain significance174279359642793596Human1name
598275501CV3937142single nucleotide variantNM_032387.5(WNK4):c.1865C>G (p.Ala622Gly)Inborn genetic diseases [RCV005304635]uncertain significance174278813142788131Human1name
598275502CV3937144single nucleotide variantNM_032387.5(WNK4):c.2093G>A (p.Ser698Asn)Inborn genetic diseases [RCV005304636]uncertain significance174278873342788733Human1name
598236040CV3937145single nucleotide variantNM_032387.5(WNK4):c.2308C>G (p.Pro770Ala)Inborn genetic diseases [RCV005295950]uncertain significance174279462642794626Human1name
598190037CV4008780single nucleotide variantNM_032387.5(WNK4):c.1547C>A (p.Ala516Asp)Pseudohypoaldosteronism type 2B [RCV005396279]uncertain significance174278734842787348Human1name
598190051CV4008782single nucleotide variantNM_032387.5(WNK4):c.2033T>C (p.Val678Ala)Pseudohypoaldosteronism type 2B [RCV005396281]uncertain significance174278840042788400Human1name
13832147CV582639deletionNM_032387.5(WNK4):c.3293del (p.Gly1098fs)Pseudohypoaldosteronism type 2B [RCV005021125]|not provided [RCV000722831]uncertain significance174279589142795891Human1name
15017060CV681811single nucleotide variantNM_032387.5(WNK4):c.2009G>A (p.Arg670His)Pseudohypoaldosteronism type 2B [RCV000855411]uncertain significance174278837642788376Human1name
15098716CV727190single nucleotide variantNM_032387.5(WNK4):c.2224C>G (p.Gln742Glu)not provided [RCV000891801]benign174279365842793658Humanname
8621585CV75559single nucleotide variantNM_032387.5(WNK4):c.1222A>T (p.Ile408Phe)not provided [RCV000054781]uncertain significance174278514842785148Humanname
8621586CV75560single nucleotide variantNM_032387.5(WNK4):c.1323A>T (p.Glu441Asp)Pseudohypoaldosteronism type 2B [RCV001127252]|not provided [RCV000054782]benign|conflicting interpretations of pathogenicity|uncertain significance174278532942785329Human1name
8621587CV75561single nucleotide variantNM_032387.5(WNK4):c.1444C>T (p.Arg482Trp)not provided [RCV000054783]uncertain significance174278545042785450Humanname
8621588CV75562single nucleotide variantNM_032387.5(WNK4):c.1892G>A (p.Gly631Asp)not provided [RCV000054784]uncertain significance174278815842788158Humanname
8621589CV75563single nucleotide variantNM_032387.5(WNK4):c.2084C>G (p.Thr695Ser)not provided [RCV000054785]uncertain significance174278872442788724Humanname
8621590CV75564single nucleotide variantNM_032387.5(WNK4):c.2476G>A (p.Gly826Ser)Pseudohypoaldosteronism type 2B [RCV000396383]|WNK4-related disorder [RCV003905017]|not provided [RCV000054786]benign|likely benign|uncertain significance174279489742794897Human1name , trait , alternate_id
28906811CV877578single nucleotide variantNM_032387.5(WNK4):c.1073T>A (p.Val358Glu)Pseudohypoaldosteronism type 2B [RCV001127251]uncertain significance174278448242784482Human1name
28906814CV877579single nucleotide variantNM_032387.5(WNK4):c.1357C>T (p.Leu453Phe)Pseudohypoaldosteronism type 2B [RCV001127253]uncertain significance174278536342785363Human1name
28906815CV877580single nucleotide variantNM_032387.5(WNK4):c.1405C>T (p.Arg469Trp)Inborn genetic diseases [RCV004963137]|Pseudohypoaldosteronism type 2B [RCV001127254]benign|uncertain significance174278541142785411Human2name
28897403CV877581single nucleotide variantNM_032387.5(WNK4):c.1414C>G (p.Gln472Glu)Inborn genetic diseases [RCV002556661]|Pseudohypoaldosteronism type 2B [RCV001123185]|not provided [RCV003727878]benign|likely benign|uncertain significance174278542042785420Human2name
28900236CV877583single nucleotide variantNM_032387.5(WNK4):c.1666C>A (p.Pro556Thr)Pseudohypoaldosteronism type 2B [RCV001124269]|not provided [RCV002070026]benign|likely benign174278746742787467Human1name
28907033CV877587single nucleotide variantNM_032387.5(WNK4):c.2029C>T (p.Arg677Trp)Pseudohypoaldosteronism type 2B [RCV001127352]|WNK4-related disorder [RCV003918719]|not provided [RCV002558256]benign|likely benign174278839642788396Human1name , trait , alternate_id
28907036CV877588single nucleotide variantNM_032387.5(WNK4):c.2030G>A (p.Arg677Gln)Pseudohypoaldosteronism type 2B [RCV001127353]likely benign174278839742788397Human1name
28907039CV877589single nucleotide variantNM_032387.5(WNK4):c.2264T>A (p.Met755Lys)Pseudohypoaldosteronism type 2B [RCV001127354]uncertain significance174279369842793698Human1name
28907042CV877590single nucleotide variantNM_032387.5(WNK4):c.2297A>G (p.Glu766Gly)Pseudohypoaldosteronism type 2B [RCV001127355]likely benign174279461542794615Human1name
28897649CV877591single nucleotide variantNM_032387.5(WNK4):c.2348A>G (p.Asn783Ser)Inborn genetic diseases [RCV004032247]|Pseudohypoaldosteronism type 2B [RCV001123283]|not provided [RCV004710240]benign|likely benign174279466642794666Human2name
28900579CV877595single nucleotide variantNM_032387.5(WNK4):c.2681C>T (p.Pro894Leu)Pseudohypoaldosteronism type 2B [RCV001124388]uncertain significance174279510242795102Human1name
28900504CV877597single nucleotide variantNM_032387.5(WNK4):c.2860C>T (p.Pro954Ser)Pseudohypoaldosteronism type 2B [RCV001124390]uncertain significance174279528142795281Human1name
42722837CV985354single nucleotide variantNM_032387.5(WNK4):c.1510C>T (p.Gln504Ter)Pseudohypoaldosteronism type 2B [RCV005019658]|not provided [RCV003085882]|not specified [RCV004587427]pathogenic|likely benign|uncertain significance174278731142787311Human1name
126729841CV986090single nucleotide variantNM_032387.5(WNK4):c.2017C>T (p.Arg673Ter)not provided [RCV003565816]pathogenic|uncertain significance174278838442788384Humanname
156344626CV1871638single nucleotide variantNM_032387.5(WNK4):c.3503G>A (p.Gly1168Glu)Pseudohypoaldosteronism type 2B [RCV005019590]|not provided [RCV003064446]uncertain significance174279619442796194Human1name
156047069CV1887546single nucleotide variantNM_032387.5(WNK4):c.3182G>C (p.Gly1061Ala)Inborn genetic diseases [RCV003089664]|not provided [RCV003078738]|not specified [RCV003151441]uncertain significance174279578442795784Human1name
156321791CV1978725single nucleotide variantNM_032387.5(WNK4):c.3550A>G (p.Ser1184Gly)not provided [RCV002630395]uncertain significance174279624142796241Humanname
156015448CV2043991single nucleotide variantNM_032387.5(WNK4):c.3559C>T (p.Arg1187Cys)Inborn genetic diseases [RCV002795325]|not provided [RCV002781457]uncertain significance174279625042796250Human1name
156140211CV2109868single nucleotide variantNM_032387.5(WNK4):c.3187G>A (p.Gly1063Arg)Inborn genetic diseases [RCV002928526]|not provided [RCV002928527]uncertain significance174279578942795789Human1name
155902450CV2127036single nucleotide variantNM_032387.5(WNK4):c.3693C>G (p.Ser1231Arg)not provided [RCV002967506]benign174279654242796542Humanname
156385101CV2128371single nucleotide variantNM_032387.5(WNK4):c.3593G>A (p.Arg1198His)not provided [RCV002943428]|not specified [RCV003226561]benign|likely benign|uncertain significance174279628442796284Humanname
155916829CV2239846single nucleotide variantNM_032387.5(WNK4):c.3418A>T (p.Ser1140Cys)Inborn genetic diseases [RCV002772417]uncertain significance174279602042796020Human1name
8597616CV22702single nucleotide variantNM_032387.5(WNK4):c.3553C>T (p.Arg1185Cys)Pseudohypoaldosteronism type 2B [RCV000008102]|not provided [RCV000731744]pathogenic|conflicting interpretations of pathogenicity|uncertain significance174279624442796244Human1name
156344818CV2294239single nucleotide variantNM_032387.5(WNK4):c.3046C>T (p.Arg1016Cys)Inborn genetic diseases [RCV002900724]|Pseudohypoaldosteronism type 2B [RCV005021717]uncertain significance174279564842795648Human2name
156395445CV2329193single nucleotide variantNM_032387.5(WNK4):c.3281C>G (p.Pro1094Arg)Inborn genetic diseases [RCV002944556]uncertain significance174279588342795883Human1name
155986009CV2344008single nucleotide variantNM_032387.5(WNK4):c.3474A>T (p.Lys1158Asn)Inborn genetic diseases [RCV002947096]uncertain significance174279616542796165Human1name
243062085CV2414291single nucleotide variantNM_032387.5(WNK4):c.3676C>T (p.Gln1226Ter)Pseudohypoaldosteronism type 2B [RCV003139360]uncertain significance174279652542796525Human1name
243062086CV2414292single nucleotide variantNM_032387.5(WNK4):c.3242G>A (p.Gly1081Glu)Pseudohypoaldosteronism type 2B [RCV003139361]uncertain significance174279584442795844Human1name
405129843CV3054567single nucleotide variantNM_032387.5(WNK4):c.3479T>C (p.Ile1160Thr)Inborn genetic diseases [RCV004963782]|not provided [RCV003724727]|not specified [RCV004783096]uncertain significance174279617042796170Human1name
405081741CV3137463single nucleotide variantNM_032387.5(WNK4):c.3424C>T (p.Arg1142Trp)Pseudohypoaldosteronism type 2B [RCV005015016]|not provided [RCV003834172]uncertain significance174279602642796026Human1name
405153124CV3163058single nucleotide variantNM_032387.5(WNK4):c.3490T>C (p.Tyr1164His)Pseudohypoaldosteronism type 2B [RCV005015045]|not provided [RCV003856501]uncertain significance174279618142796181Human1name
402473260CV3172138single nucleotide variantNM_032387.5(WNK4):c.3709G>A (p.Ala1237Thr)not provided [RCV003874741]uncertain significance174279655842796558Humanname
11624993CV328570single nucleotide variantNM_032387.5(WNK4):c.3595C>A (p.Arg1199Ser)Pseudohypoaldosteronism type 2B [RCV000393657]benign|likely benign174279628642796286Human1name
405812069CV3352897single nucleotide variantNM_032387.5(WNK4):c.3119G>A (p.Gly1040Asp)Inborn genetic diseases [RCV004483097]|Pseudohypoaldosteronism type 2B [RCV005015154]uncertain significance174279572142795721Human2name
405812071CV3352898single nucleotide variantNM_032387.5(WNK4):c.3497G>A (p.Arg1166Gln)Inborn genetic diseases [RCV004483098]uncertain significance174279618842796188Human1name
405812073CV3352899single nucleotide variantNM_032387.5(WNK4):c.3521G>T (p.Gly1174Val)Inborn genetic diseases [RCV004483099]uncertain significance174279621242796212Human1name
405812075CV3352900single nucleotide variantNM_032387.5(WNK4):c.3532C>A (p.Pro1178Thr)Inborn genetic diseases [RCV004483100]uncertain significance174279622342796223Human1name
405812077CV3352901single nucleotide variantNM_032387.5(WNK4):c.3535G>T (p.Ala1179Ser)Inborn genetic diseases [RCV004483101]uncertain significance174279622642796226Human1name
405812079CV3352902single nucleotide variantNM_032387.5(WNK4):c.3542T>C (p.Met1181Thr)Inborn genetic diseases [RCV004483102]uncertain significance174279623342796233Human1name
11619698CV338511single nucleotide variantNM_032387.5(WNK4):c.3074C>T (p.Pro1025Leu)Pseudohypoaldosteronism type 2B [RCV000328268]|not provided [RCV000948453]benign|likely benign174279567642795676Human1name
11631744CV344603single nucleotide variantNM_032387.5(WNK4):c.3251T>C (p.Val1084Ala)Pseudohypoaldosteronism type 2B [RCV000387384]|not provided [RCV000912774]benign|likely benign174279585342795853Human1name
11628026CV345983single nucleotide variantNM_032387.5(WNK4):c.3518C>A (p.Pro1173Gln)Pseudohypoaldosteronism type 2B [RCV000293015]|not provided [RCV003556335]benign|likely benign174279620942796209Human1name
11630535CV345984single nucleotide variantNM_032387.5(WNK4):c.3523A>G (p.Ile1175Val)Pseudohypoaldosteronism type 2B [RCV000352617]uncertain significance174279621442796214Human1name
11627349CV345994single nucleotide variantNM_032387.5(WNK4):c.3610C>T (p.Arg1204Cys)Pseudohypoaldosteronism type 2B [RCV000279946]|not provided [RCV000883389]benign|likely benign174279630142796301Human1name
407524748CV3487944single nucleotide variantNM_032387.5(WNK4):c.3712G>A (p.Gly1238Arg)Inborn genetic diseases [RCV004678540]|Pseudohypoaldosteronism type 2B [RCV005015236]|not provided [RCV005103517]uncertain significance174279656142796561Human2name
407524768CV3487954single nucleotide variantNM_032387.5(WNK4):c.3287T>C (p.Val1096Ala)Inborn genetic diseases [RCV004678549]uncertain significance174279588942795889Human1name
407465484CV3487956single nucleotide variantNM_032387.5(WNK4):c.3055G>A (p.Val1019Met)Inborn genetic diseases [RCV004688780]uncertain significance174279565742795657Human1name
408379968CV3509030single nucleotide variantNM_032387.5(WNK4):c.3563G>A (p.Arg1188His)Pseudohypoaldosteronism type 2B [RCV005017238]|WNK4-related disorder [RCV004753846]uncertain significance174279625442796254Human1name , trait , alternate_id
596942243CV3544030single nucleotide variantNM_032387.5(WNK4):c.3265G>C (p.Asp1089His)not specified [RCV004800020]uncertain significance174279586742795867Humanname
597631011CV3624174single nucleotide variantNM_032387.5(WNK4):c.3425G>A (p.Arg1142Gln)Inborn genetic diseases [RCV004967482]|not provided [RCV005110005]uncertain significance174279602742796027Human1name
597631029CV3624182single nucleotide variantNM_032387.5(WNK4):c.3680A>C (p.Glu1227Ala)Inborn genetic diseases [RCV004967490]uncertain significance174279652942796529Human1name
597631034CV3624184single nucleotide variantNM_032387.5(WNK4):c.3047G>T (p.Arg1016Leu)Inborn genetic diseases [RCV004967492]uncertain significance174279564942795649Human1name
12791740CV362588single nucleotide variantNM_032387.5(WNK4):c.3505A>G (p.Lys1169Glu)Pseudohypoaldosteronism type 2B [RCV000417205]pathogenic|not provided174279619642796196Human1name
597769860CV3709113single nucleotide variantNM_032387.5(WNK4):c.3008C>T (p.Ala1003Val)Pseudohypoaldosteronism type 2B [RCV005020328]uncertain significance174279550742795507Human1name
597769864CV3709114single nucleotide variantNM_032387.5(WNK4):c.3011C>T (p.Pro1004Leu)Pseudohypoaldosteronism type 2B [RCV005020329]uncertain significance174279551042795510Human1name
597769869CV3709115single nucleotide variantNM_032387.5(WNK4):c.3058A>C (p.Thr1020Pro)Pseudohypoaldosteronism type 2B [RCV005020330]uncertain significance174279566042795660Human1name
597769874CV3709116single nucleotide variantNM_032387.5(WNK4):c.3067A>G (p.Lys1023Glu)Pseudohypoaldosteronism type 2B [RCV005020331]uncertain significance174279566942795669Human1name
597769879CV3709117single nucleotide variantNM_032387.5(WNK4):c.3154G>C (p.Glu1052Gln)Pseudohypoaldosteronism type 2B [RCV005020332]uncertain significance174279575642795756Human1name
597769884CV3709118single nucleotide variantNM_032387.5(WNK4):c.3251T>G (p.Val1084Gly)Pseudohypoaldosteronism type 2B [RCV005020333]uncertain significance174279585342795853Human1name
597769889CV3709119single nucleotide variantNM_032387.5(WNK4):c.3308T>C (p.Leu1103Pro)Pseudohypoaldosteronism type 2B [RCV005020334]uncertain significance174279591042795910Human1name
597769894CV3709120single nucleotide variantNM_032387.5(WNK4):c.3316C>G (p.Pro1106Ala)Pseudohypoaldosteronism type 2B [RCV005020335]uncertain significance174279591842795918Human1name
597769898CV3709121single nucleotide variantNM_032387.5(WNK4):c.3400T>C (p.Phe1134Leu)Pseudohypoaldosteronism type 2B [RCV005020336]uncertain significance174279600242796002Human1name
597769903CV3709122single nucleotide variantNM_032387.5(WNK4):c.3480T>G (p.Ile1160Met)Pseudohypoaldosteronism type 2B [RCV005020337]uncertain significance174279617142796171Human1name
597769908CV3709124single nucleotide variantNM_032387.5(WNK4):c.3511C>G (p.Pro1171Ala)Pseudohypoaldosteronism type 2B [RCV005020338]uncertain significance174279620242796202Human1name
597769915CV3709125single nucleotide variantNM_032387.5(WNK4):c.3520G>T (p.Gly1174Cys)Pseudohypoaldosteronism type 2B [RCV005020339]uncertain significance174279621142796211Human1name
597769920CV3709126single nucleotide variantNM_032387.5(WNK4):c.3554G>A (p.Arg1185His)Pseudohypoaldosteronism type 2B [RCV005020340]uncertain significance174279624542796245Human1name
597769925CV3709127single nucleotide variantNM_032387.5(WNK4):c.3560G>A (p.Arg1187His)Pseudohypoaldosteronism type 2B [RCV005020341]uncertain significance174279625142796251Human1name
597769930CV3709128single nucleotide variantNM_032387.5(WNK4):c.3596G>A (p.Arg1199His)Inborn genetic diseases [RCV005301478]|Pseudohypoaldosteronism type 2B [RCV005020342]|not provided [RCV005112675]uncertain significance174279628742796287Human2name
597769939CV3709130single nucleotide variantNM_032387.5(WNK4):c.3628C>T (p.Pro1210Ser)Pseudohypoaldosteronism type 2B [RCV005020344]uncertain significance174279631942796319Human1name
597769944CV3709131single nucleotide variantNM_032387.5(WNK4):c.3634A>G (p.Ile1212Val)Pseudohypoaldosteronism type 2B [RCV005020345]uncertain significance174279648342796483Human1name
597769949CV3709132single nucleotide variantNM_032387.5(WNK4):c.3641G>A (p.Arg1214Gln)Pseudohypoaldosteronism type 2B [RCV005020346]uncertain significance174279649042796490Human1name
597769954CV3709133single nucleotide variantNM_032387.5(WNK4):c.3653T>C (p.Leu1218Pro)Pseudohypoaldosteronism type 2B [RCV005020347]uncertain significance174279650242796502Human1name
597769959CV3709134single nucleotide variantNM_032387.5(WNK4):c.3661A>G (p.Ser1221Gly)Pseudohypoaldosteronism type 2B [RCV005020348]uncertain significance174279651042796510Human1name
597769964CV3709135single nucleotide variantNM_032387.5(WNK4):c.3685C>T (p.Arg1229Trp)Pseudohypoaldosteronism type 2B [RCV005020349]likely benign174279653442796534Human1name
597769968CV3709136single nucleotide variantNM_032387.5(WNK4):c.3700G>A (p.Val1234Met)Pseudohypoaldosteronism type 2B [RCV005020350]uncertain significance174279654942796549Human1name
597881611CV3763855single nucleotide variantNM_032387.5(WNK4):c.3088C>A (p.Pro1030Thr)not provided [RCV005109255]uncertain significance174279569042795690Humanname
597922698CV3839842single nucleotide variantNM_032387.5(WNK4):c.3515C>T (p.Pro1172Leu)not provided [RCV005184581]uncertain significance174279620642796206Humanname
597952850CV3843848single nucleotide variantNM_032387.5(WNK4):c.3421C>G (p.Leu1141Val)not provided [RCV005190710]uncertain significance174279602342796023Humanname
598236034CV3937140single nucleotide variantNM_032387.5(WNK4):c.3518C>T (p.Pro1173Leu)Inborn genetic diseases [RCV005295948]uncertain significance174279620942796209Human1name
598275503CV3937146single nucleotide variantNM_032387.5(WNK4):c.3125C>T (p.Pro1042Leu)Inborn genetic diseases [RCV005304637]likely benign174279572742795727Human1name
598275504CV3937147single nucleotide variantNM_032387.5(WNK4):c.3525T>G (p.Ile1175Met)Inborn genetic diseases [RCV005304638]uncertain significance174279621642796216Human1name
598190060CV4008783single nucleotide variantNM_032387.5(WNK4):c.3041T>C (p.Val1014Ala)Pseudohypoaldosteronism type 2B [RCV005396282]uncertain significance174279564342795643Human1name
13512737CV485863single nucleotide variantNM_032387.5(WNK4):c.3659G>T (p.Gly1220Val)Pseudohypoaldosteronism type 2B [RCV000584086]uncertain significance174279650842796508Human1name
15151846CV740778single nucleotide variantNM_032387.5(WNK4):c.3032C>G (p.Pro1011Arg)Pseudohypoaldosteronism type 2B [RCV001125382]|WNK4-related disorder [RCV003968255]|not provided [RCV000901445]|not specified [RCV004526784]benign|likely benign174279563442795634Human1name , trait , alternate_id
8621593CV75567single nucleotide variantNM_032387.5(WNK4):c.3536C>T (p.Ala1179Val)not provided [RCV000054789]uncertain significance174279622742796227Humanname
28902844CV877598single nucleotide variantNM_032387.5(WNK4):c.3032C>T (p.Pro1011Leu)Inborn genetic diseases [RCV005286315]|Pseudohypoaldosteronism type 2B [RCV001125383]likely benign|uncertain significance174279563442795634Human2name
28902847CV877599single nucleotide variantNM_032387.5(WNK4):c.3223C>T (p.Arg1075Cys)Pseudohypoaldosteronism type 2B [RCV001125384]uncertain significance174279582542795825Human1name
28902851CV877600single nucleotide variantNM_032387.5(WNK4):c.3409G>A (p.Glu1137Lys)Pseudohypoaldosteronism type 2B [RCV001125385]uncertain significance174279601142796011Human1name
28907262CV877601single nucleotide variantNM_032387.5(WNK4):c.3440C>T (p.Ser1147Leu)Pseudohypoaldosteronism type 2B [RCV001127472]uncertain significance174279613142796131Human1name
28907265CV877602single nucleotide variantNM_032387.5(WNK4):c.3595C>T (p.Arg1199Cys)Inborn genetic diseases [RCV002556787]|Pseudohypoaldosteronism type 2B [RCV001127473]uncertain significance174279628642796286Human2name
126729845CV986091single nucleotide variantNM_032387.5(WNK4):c.3404G>A (p.Trp1135Ter)Pseudohypoaldosteronism type 2B [RCV001293949]pathogenic174279600642796006Humanname
156446543CV1947889deletionNM_032387.5(WNK4):c.531_532del (p.Ile178fs)not provided [RCV003118052]uncertain significance174278122842781229Humanname
405171978CV3122514duplicationNM_032387.5(WNK4):c.665_668dup (p.Glu223fs)not provided [RCV003819103]uncertain significance174278280342782804Humanname
401901699CV2804490microsatelliteNM_032387.5(WNK4):c.1675GAG[1] (p.Glu560del)WNK4-related disorder [RCV003393132]likely pathogenic174278747642787478Humanname , trait , alternate_id
405176740CV3049472microsatelliteNM_032387.5(WNK4):c.2856TCC[1] (p.Pro954del)not provided [RCV003728407]uncertain significance174279527642795278Humanname
597769595CV3709086microsatelliteNM_032387.5(WNK4):c.1980GAG[1] (p.Arg662del)Pseudohypoaldosteronism type 2B [RCV005020301]uncertain significance174278834742788349Humanname
597769808CV3709102microsatelliteNM_032387.5(WNK4):c.2550CTC[1] (p.Ser852del)Pseudohypoaldosteronism type 2B [RCV005020317]uncertain significance174279497142794973Humanname
15098720CV727191microsatelliteNM_032387.5(WNK4):c.2413TCT[1] (p.Ser806del)not provided [RCV000891802]benign174279483442794836Humanname
243053632CV2416357microsatelliteNM_032387.5(WNK4):c.2629_2632del (p.Gln878fs)not provided [RCV003149418]uncertain significance174279504742795050Humanname
597769729CV3709024indelNM_032387.5(WNK4):c.91_92delinsAG (p.Ala31Arg)Pseudohypoaldosteronism type 2B [RCV005020244]uncertain significance174278078942780790Humanname
597769803CV3709101deletionNM_032387.5(WNK4):c.2533_2535del (p.Pro845del)Pseudohypoaldosteronism type 2B [RCV005020316]uncertain significance174279495242794954Human1name
597769538CV3709076indelNM_032387.5(WNK4):c.1759_1760delinsTC (p.Gly587Ser)Pseudohypoaldosteronism type 2B [RCV005020291]uncertain significance174278779542787796Humanname
13831831CV582328indelNM_032387.5(WNK4):c.1095_1096delinsTT (p.Met365Ile)Pseudohypoaldosteronism type 2B [RCV002493295]|not provided [RCV000722514]uncertain significance174278450442784505Humanname
597964083CV3837843deletionNM_032387.5(WNK4):c.3307del (p.Pro1102_Leu1103insTer)not provided [RCV005193827]uncertain significance174279590642795906Humanname