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Variants search result for Homo sapiens
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47 records found for search term Kcnk5
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
407516437CV3445113single nucleotide variantNM_003740.4(KCNK5):c.10C>T (p.Arg4Trp)not specified [RCV004628197]uncertain significance63922910239229102Humanname
401762496CV2723464single nucleotide variantNM_003740.4(KCNK5):c.41T>A (p.Phe14Tyr)not specified [RCV004323534]uncertain significance63922907139229071Humanname
401762497CV2723465single nucleotide variantNM_003740.4(KCNK5):c.42C>A (p.Phe14Leu)not specified [RCV004323535]uncertain significance63922907039229070Humanname
401920789CV2823002single nucleotide variantNM_003740.4(KCNK5):c.948C>T (p.Ser316=)not provided [RCV003431840]likely benign63919144239191442Humanname
156106910CV2257318single nucleotide variantNM_003740.4(KCNK5):c.217G>A (p.Ala73Thr)not specified [RCV004125419]uncertain significance63919595739195957Humanname
329388973CV2469668single nucleotide variantNM_003740.4(KCNK5):c.212G>T (p.Gly71Val)not specified [RCV004283084]uncertain significance63919596239195962Humanname
15106451CV750068single nucleotide variantNM_003740.4(KCNK5):c.1185G>A (p.Leu395=)not provided [RCV000915756]likely benign63919120539191205Humanname
156332208CV2220643single nucleotide variantNM_003740.4(KCNK5):c.331G>A (p.Gly111Ser)not specified [RCV004097823]uncertain significance63919472839194728Humanname
156333567CV2220854single nucleotide variantNM_003740.4(KCNK5):c.320A>G (p.Lys107Arg)not specified [RCV004092284]uncertain significance63919473939194739Humanname
156284991CV2289027single nucleotide variantNM_003740.4(KCNK5):c.670C>T (p.Arg224Cys)not specified [RCV004149976]uncertain significance63919172039191720Humanname
156262402CV2314852single nucleotide variantNM_003740.4(KCNK5):c.929A>G (p.Lys310Arg)not specified [RCV004170971]uncertain significance63919146139191461Humanname
156042606CV2342243single nucleotide variantNM_003740.4(KCNK5):c.418C>T (p.Arg140Cys)not specified [RCV004191818]uncertain significance63919464139194641Humanname
156070362CV2354169single nucleotide variantNM_003740.4(KCNK5):c.779G>A (p.Arg260Gln)not specified [RCV004206602]uncertain significance63919161139191611Humanname
156054540CV2361244single nucleotide variantNM_003740.4(KCNK5):c.502G>A (p.Val168Met)not specified [RCV004218463]uncertain significance63919430139194301Humanname
156102839CV2400163single nucleotide variantNM_003740.4(KCNK5):c.820C>G (p.Arg274Gly)not specified [RCV004242964]uncertain significance63919157039191570Humanname
329400393CV2441612single nucleotide variantNM_003740.4(KCNK5):c.862G>A (p.Val288Ile)not specified [RCV004259437]uncertain significance63919152839191528Humanname
401747405CV2688907single nucleotide variantNM_003740.4(KCNK5):c.438G>C (p.Gln146His)not specified [RCV004303915]uncertain significance63919462139194621Humanname
405268127CV3219554single nucleotide variantNM_003740.4(KCNK5):c.994G>A (p.Gly332Ser)KCNK5-related disorder [RCV003969762]likely benign63919139639191396Humanname , trait , alternate_id
405806937CV3264954single nucleotide variantNM_003740.4(KCNK5):c.334C>T (p.Arg112Cys)not specified [RCV004406302]uncertain significance63919472539194725Humanname
405806939CV3264955single nucleotide variantNM_003740.4(KCNK5):c.482C>T (p.Thr161Met)not specified [RCV004406303]uncertain significance63919432139194321Humanname
405806941CV3264956single nucleotide variantNM_003740.4(KCNK5):c.541G>A (p.Val181Ile)not specified [RCV004406304]uncertain significance63919426239194262Humanname
405806943CV3264957single nucleotide variantNM_003740.4(KCNK5):c.949G>C (p.Gly317Arg)not specified [RCV004406305]uncertain significance63919144139191441Humanname
597796332CV3687685single nucleotide variantNM_003740.4(KCNK5):c.968C>T (p.Pro323Leu)not specified [RCV004935432]uncertain significance63919142239191422Humanname
597796335CV3687686single nucleotide variantNM_003740.4(KCNK5):c.308A>G (p.Asn103Ser)not specified [RCV004935433]uncertain significance63919475139194751Humanname
597796344CV3694699single nucleotide variantNM_003740.4(KCNK5):c.661G>A (p.Ala221Thr)not specified [RCV004935436]uncertain significance63919172939191729Humanname
598235358CV3976207single nucleotide variantNM_003740.4(KCNK5):c.934G>T (p.Ala312Ser)not specified [RCV005363653]uncertain significance63919145639191456Humanname
598235366CV3976210single nucleotide variantNM_003740.4(KCNK5):c.842G>A (p.Gly281Glu)not specified [RCV005363654]uncertain significance63919154839191548Humanname
8626203CV81347single nucleotide variantNM_003740.3(KCNK5):c.326C>T (p.Pro109Leu)Malignant melanoma [RCV000061425]not provided63919473339194733Humanname
150513698CV1229113single nucleotide variantNM_003740.4(KCNK5):c.1393C>A (p.Pro465Thr)not provided [RCV001637955]benign63919099739190997Humanname
156269503CV2195094single nucleotide variantNM_003740.4(KCNK5):c.1082C>T (p.Thr361Ile)not specified [RCV004078003]uncertain significance63919130839191308Humanname
156030675CV2238426single nucleotide variantNM_003740.4(KCNK5):c.1325A>G (p.Asn442Ser)not specified [RCV004113486]uncertain significance63919106539191065Humanname
156147486CV2265206single nucleotide variantNM_003740.4(KCNK5):c.1141C>T (p.Pro381Ser)not specified [RCV004126325]uncertain significance63919124939191249Humanname
156004214CV2357541single nucleotide variantNM_003740.4(KCNK5):c.1051C>T (p.Arg351Trp)not specified [RCV004202814]uncertain significance63919133939191339Humanname
156255374CV2359000single nucleotide variantNM_003740.4(KCNK5):c.1165G>A (p.Glu389Lys)not specified [RCV004212327]uncertain significance63919122539191225Humanname
156336266CV2360706single nucleotide variantNM_003740.4(KCNK5):c.1054G>A (p.Val352Met)not specified [RCV004213497]uncertain significance63919133639191336Humanname
329353643CV2466983single nucleotide variantNM_003740.4(KCNK5):c.1207G>A (p.Glu403Lys)not specified [RCV004282733]uncertain significance63919118339191183Humanname
401875323CV2766005single nucleotide variantNM_003740.4(KCNK5):c.1173C>G (p.Phe391Leu)not specified [RCV004340471]uncertain significance63919121739191217Humanname
405294042CV3203373single nucleotide variantNM_003740.4(KCNK5):c.1094A>T (p.Lys365Ile)KCNK5-related disorder [RCV003933922]likely benign63919129639191296Humanname , trait , alternate_id
405806933CV3264952single nucleotide variantNM_003740.4(KCNK5):c.1102G>A (p.Val368Ile)not specified [RCV004406300]uncertain significance63919128839191288Humanname
405806935CV3264953single nucleotide variantNM_003740.4(KCNK5):c.1126G>C (p.Ala376Pro)not specified [RCV004406301]uncertain significance63919126439191264Humanname
597796338CV3687687single nucleotide variantNM_003740.4(KCNK5):c.1203A>C (p.Glu401Asp)not specified [RCV004935434]uncertain significance63919118739191187Humanname
597796341CV3687688single nucleotide variantNM_003740.4(KCNK5):c.1162C>G (p.Pro388Ala)not specified [RCV004935435]uncertain significance63919122839191228Humanname
598259939CV3976208single nucleotide variantNM_003740.4(KCNK5):c.1010T>C (p.Leu337Pro)not specified [RCV005347525]uncertain significance63919138039191380Humanname
598259945CV3976209single nucleotide variantNM_003740.4(KCNK5):c.1135C>T (p.Arg379Trp)not specified [RCV005347526]uncertain significance63919125539191255Humanname
598235373CV3976211single nucleotide variantNM_003740.4(KCNK5):c.1012C>T (p.Pro338Ser)not specified [RCV005363655]uncertain significance63919137839191378Humanname
598259951CV3976212single nucleotide variantNM_003740.4(KCNK5):c.1329G>C (p.Leu443Phe)not specified [RCV005347527]uncertain significance63919106139191061Humanname
15176174CV710501single nucleotide variantNM_003740.4(KCNK5):c.1219G>A (p.Ala407Thr)not provided [RCV000973126]benign63919117139191171Humanname