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Variants search result for All species
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87 records found for search term Slc8a1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
401937518CV2815708single nucleotide variantNM_021097.5(SLC8A1):c.1915+561G>Anot provided [RCV003415553]likely benign24017782640177826Humanname
8577174CV111545single nucleotide variantNR_038441.1(SLC8A1-AS1):n.67+45656A>TLung cancer [RCV000092068]uncertain significance23996854539968545Humanname
401744991CV2693156single nucleotide variantNM_021097.5(SLC8A1):c.7A>G (p.Asn3Asp)not specified [RCV004293091]uncertain significance24043027440430274Humanname
15152664CV747631single nucleotide variantNM_021097.5(SLC8A1):c.5A>T (p.Tyr2Phe)not provided [RCV000923916]likely benign24043027640430276Humanname
156389027CV2376311single nucleotide variantNM_021097.5(SLC8A1):c.23G>C (p.Ser8Thr)not specified [RCV004222573]uncertain significance24043025840430258Humanname
597776771CV3606784single nucleotide variantNM_021097.5(SLC8A1):c.43A>G (p.Met15Val)not specified [RCV004872880]uncertain significance24043023840430238Humanname
598260299CV3922058single nucleotide variantNM_021097.5(SLC8A1):c.35C>T (p.Thr12Ile)not specified [RCV005279757]uncertain significance24043024640430246Humanname
401723478CV2674966single nucleotide variantNM_021097.5(SLC8A1):c.283A>G (p.Ile95Val)not specified [RCV004296274]uncertain significance24042999840429998Humanname
401911987CV2815707single nucleotide variantNM_021097.5(SLC8A1):c.2175T>A (p.Thr725=)not provided [RCV003426936]likely benign24016085940160859Humanname
597776779CV3606786single nucleotide variantNM_021097.5(SLC8A1):c.286G>A (p.Ala96Thr)not specified [RCV004872882]uncertain significance24042999540429995Humanname
597725180CV3606792single nucleotide variantNM_021097.5(SLC8A1):c.115A>G (p.Met39Val)not specified [RCV004862399]uncertain significance24043016640430166Humanname
15121216CV708274single nucleotide variantNM_021097.5(SLC8A1):c.2715C>A (p.Gly905=)not provided [RCV000962852]benign24011546040115460Humanname
15191456CV733471single nucleotide variantNM_021097.5(SLC8A1):c.2785C>A (p.Arg929=)not provided [RCV000910252]benign24011539040115390Humanname
15149006CV733472single nucleotide variantNM_021097.5(SLC8A1):c.2256C>T (p.Ile752=)not provided [RCV000900841]likely benign24016077840160778Humanname
15191459CV733473single nucleotide variantNM_021097.5(SLC8A1):c.2040C>T (p.Asp680=)not provided [RCV000910253]likely benign24016498340164983Humanname
15177570CV733474single nucleotide variantNM_021097.5(SLC8A1):c.1563C>T (p.Leu521=)not provided [RCV000906683]benign24042871840428718Humanname
15115094CV747627single nucleotide variantNM_021097.5(SLC8A1):c.2625G>A (p.Ala875=)not provided [RCV000917396]benign24011555040115550Humanname
15126176CV747628single nucleotide variantNM_021097.5(SLC8A1):c.2451C>T (p.Phe817=)not provided [RCV000919278]likely benign24013949540139495Humanname
15169141CV747629single nucleotide variantNM_021097.5(SLC8A1):c.1713C>T (p.Ile571=)not provided [RCV000927437]likely benign24042856840428568Humanname
15135591CV747630single nucleotide variantNM_021097.5(SLC8A1):c.1008G>A (p.Lys336=)not provided [RCV000920876]likely benign24042927340429273Humanname
156083958CV2249232single nucleotide variantNM_021097.5(SLC8A1):c.916G>T (p.Gly306Cys)not specified [RCV004118271]uncertain significance24042936540429365Humanname
156176605CV2258109single nucleotide variantNM_021097.5(SLC8A1):c.845G>T (p.Arg282Met)not specified [RCV004121501]uncertain significance24042943640429436Humanname
156350322CV2316187single nucleotide variantNM_021097.5(SLC8A1):c.962A>T (p.Glu321Val)not specified [RCV004174230]uncertain significance24042931940429319Humanname
401763107CV2710443single nucleotide variantNM_021097.5(SLC8A1):c.634A>G (p.Ile212Val)not specified [RCV004317597]uncertain significance24042964740429647Humanname
401783280CV2716236single nucleotide variantNM_021097.5(SLC8A1):c.731T>C (p.Ile244Thr)not specified [RCV004323457]uncertain significance24042955040429550Humanname
405770924CV3322333single nucleotide variantNM_021097.5(SLC8A1):c.383G>A (p.Arg128Lys)not specified [RCV004456964]uncertain significance24042989840429898Humanname
405770932CV3322334single nucleotide variantNM_021097.5(SLC8A1):c.978G>T (p.Met326Ile)not specified [RCV004456965]uncertain significance24042930340429303Humanname
407515751CV3481134single nucleotide variantNM_021097.5(SLC8A1):c.877G>A (p.Gly293Arg)not specified [RCV004675040]uncertain significance24042940440429404Humanname
407515756CV3481136single nucleotide variantNM_021097.5(SLC8A1):c.629G>C (p.Trp210Ser)not specified [RCV004675042]uncertain significance24042965240429652Humanname
407515760CV3481137single nucleotide variantNM_021097.5(SLC8A1):c.575A>G (p.Asp192Gly)not specified [RCV004675043]uncertain significance24042970640429706Humanname
407515767CV3481139single nucleotide variantNM_021097.5(SLC8A1):c.563A>C (p.Tyr188Ser)not specified [RCV004675045]uncertain significance24042971840429718Humanname
407515778CV3481142single nucleotide variantNM_021097.5(SLC8A1):c.866T>C (p.Ile289Thr)not specified [RCV004675048]uncertain significance24042941540429415Humanname
597776783CV3606789single nucleotide variantNM_021097.5(SLC8A1):c.965C>T (p.Ala322Val)not specified [RCV004872883]uncertain significance24042931640429316Humanname
597776796CV3606794single nucleotide variantNM_021097.5(SLC8A1):c.732C>G (p.Ile244Met)not specified [RCV004872886]uncertain significance24042954940429549Humanname
598260327CV3922064single nucleotide variantNM_021097.5(SLC8A1):c.841G>C (p.Asp281His)not specified [RCV005279762]uncertain significance24042944040429440Humanname
155986837CV2234037single nucleotide variantNM_021097.5(SLC8A1):c.2283C>G (p.Asp761Glu)not specified [RCV004106152]uncertain significance24013966340139663Humanname
156053622CV2242989single nucleotide variantNM_021097.5(SLC8A1):c.2089C>T (p.Arg697Cys)not specified [RCV004107868]uncertain significance24016493440164934Humanname
156078094CV2291714single nucleotide variantNM_021097.5(SLC8A1):c.1567T>C (p.Ser523Pro)not specified [RCV004157999]uncertain significance24042871440428714Humanname
156256707CV2307823single nucleotide variantNM_021097.5(SLC8A1):c.2891T>C (p.Leu964Pro)not specified [RCV004170289]uncertain significance24011528440115284Humanname
156056972CV2308967single nucleotide variantNM_021097.5(SLC8A1):c.1776T>G (p.Cys592Trp)not specified [RCV004169249]uncertain significance24042850540428505Humanname
155973389CV2332395single nucleotide variantNM_021097.5(SLC8A1):c.2708C>T (p.Ser903Phe)not specified [RCV004196127]uncertain significance24011546740115467Humanname
155973433CV2334436single nucleotide variantNM_021097.5(SLC8A1):c.2821C>T (p.Arg941Trp)not specified [RCV004188410]uncertain significance24011535440115354Humanname
155927531CV2349624single nucleotide variantNM_021097.5(SLC8A1):c.2846G>T (p.Cys949Phe)not specified [RCV004204045]uncertain significance24011532940115329Humanname
155967247CV2391322single nucleotide variantNM_021097.5(SLC8A1):c.2254A>G (p.Ile752Val)not specified [RCV004237684]uncertain significance24016078040160780Humanname
156100724CV2392966single nucleotide variantNM_021097.5(SLC8A1):c.1540C>A (p.His514Asn)not specified [RCV004242820]uncertain significance24042874140428741Humanname
156248003CV2396962single nucleotide variantNM_021097.5(SLC8A1):c.1481A>G (p.His494Arg)not specified [RCV004234072]uncertain significance24042880040428800Humanname
156222572CV2399782single nucleotide variantNM_021097.5(SLC8A1):c.1657A>G (p.Ile553Val)not specified [RCV004245593]uncertain significance24042862440428624Humanname
329374764CV2440015single nucleotide variantNM_021097.5(SLC8A1):c.2472C>G (p.His824Gln)not specified [RCV004260489]uncertain significance24013947440139474Humanname
329375887CV2441184single nucleotide variantNM_021097.5(SLC8A1):c.1202C>A (p.Thr401Asn)not specified [RCV004263580]uncertain significance24042907940429079Humanname
329355838CV2442352single nucleotide variantNM_021097.5(SLC8A1):c.1534G>A (p.Ala512Thr)not specified [RCV004266612]uncertain significance24042874740428747Humanname
329396382CV2462618single nucleotide variantNM_021097.5(SLC8A1):c.2687A>T (p.Asn896Ile)not specified [RCV004278562]uncertain significance24011548840115488Humanname
401728714CV2693762single nucleotide variantNM_021097.5(SLC8A1):c.2584T>C (p.Tyr862His)not specified [RCV004298086]uncertain significance24011559140115591Humanname
401892555CV2782198single nucleotide variantNM_021097.5(SLC8A1):c.1899G>C (p.Glu633Asp)not specified [RCV004359174]uncertain significance24017840340178403Humanname
405770862CV3322323single nucleotide variantNM_021097.5(SLC8A1):c.1216G>C (p.Val406Leu)not specified [RCV004456954]uncertain significance24042906540429065Humanname
405770869CV3322324single nucleotide variantNM_021097.5(SLC8A1):c.1241G>A (p.Gly414Glu)not specified [RCV004456955]uncertain significance24042904040429040Humanname
405770874CV3322325single nucleotide variantNM_021097.5(SLC8A1):c.1315A>G (p.Thr439Ala)not specified [RCV004456956]uncertain significance24042896640428966Humanname
405770881CV3322326single nucleotide variantNM_021097.5(SLC8A1):c.1546T>A (p.Ser516Thr)not specified [RCV004456957]uncertain significance24042873540428735Humanname
405770887CV3322327single nucleotide variantNM_021097.5(SLC8A1):c.1634C>G (p.Pro545Arg)not specified [RCV004456958]uncertain significance24042864740428647Humanname
405770894CV3322328single nucleotide variantNM_021097.5(SLC8A1):c.1816A>G (p.Ile606Val)not specified [RCV004456959]uncertain significance24017848640178486Humanname
405770900CV3322329single nucleotide variantNM_021097.5(SLC8A1):c.2329G>T (p.Val777Leu)not specified [RCV004456960]uncertain significance24013961740139617Humanname
405770905CV3322330single nucleotide variantNM_021097.5(SLC8A1):c.2374G>A (p.Val792Ile)not specified [RCV004456961]uncertain significance24013957240139572Humanname
405770911CV3322331single nucleotide variantNM_021097.5(SLC8A1):c.2770G>A (p.Val924Met)not specified [RCV004456962]uncertain significance24011540540115405Humanname
405770918CV3322332single nucleotide variantNM_021097.5(SLC8A1):c.2830A>G (p.Lys944Glu)not specified [RCV004456963]uncertain significance24011534540115345Humanname
407515753CV3481135single nucleotide variantNM_021097.5(SLC8A1):c.1496A>T (p.Lys499Ile)not specified [RCV004675041]uncertain significance24042878540428785Humanname
407515763CV3481138single nucleotide variantNM_021097.5(SLC8A1):c.1748G>C (p.Gly583Ala)not specified [RCV004675044]uncertain significance24042853340428533Humanname
407515771CV3481140single nucleotide variantNM_021097.5(SLC8A1):c.1633C>G (p.Pro545Ala)not specified [RCV004675046]uncertain significance24042864840428648Humanname
407515774CV3481141single nucleotide variantNM_021097.5(SLC8A1):c.2083G>A (p.Glu695Lys)not specified [RCV004675047]uncertain significance24016494040164940Humanname
597725145CV3606782single nucleotide variantNM_021097.5(SLC8A1):c.1714G>C (p.Val572Leu)not specified [RCV004862395]uncertain significance24042856740428567Humanname
597776765CV3606783single nucleotide variantNM_021097.5(SLC8A1):c.2000G>C (p.Arg667Thr)not specified [RCV004872879]uncertain significance24017031940170319Humanname
597776775CV3606785single nucleotide variantNM_021097.5(SLC8A1):c.1973A>G (p.Gln658Arg)not specified [RCV004872881]uncertain significance24017034640170346Humanname
597725154CV3606787single nucleotide variantNM_021097.5(SLC8A1):c.1688C>T (p.Thr563Ile)not specified [RCV004862396]uncertain significance24042859340428593Humanname
597725163CV3606788single nucleotide variantNM_021097.5(SLC8A1):c.1862C>A (p.Thr621Asn)not specified [RCV004862397]uncertain significance24017844040178440Humanname
597725171CV3606790single nucleotide variantNM_021097.5(SLC8A1):c.2093T>C (p.Ile698Thr)not specified [RCV004862398]uncertain significance24016493040164930Humanname
597776787CV3606791single nucleotide variantNM_021097.5(SLC8A1):c.1805T>A (p.Ile602Asn)not specified [RCV004872884]uncertain significance24042847640428476Humanname
597776793CV3606793single nucleotide variantNM_021097.5(SLC8A1):c.1351G>T (p.Ala451Ser)not specified [RCV004872885]uncertain significance24042893040428930Humanname
597776801CV3606795single nucleotide variantNM_021097.5(SLC8A1):c.1748G>A (p.Gly583Asp)not specified [RCV004872887]uncertain significance24042853340428533Humanname
598260304CV3922059single nucleotide variantNM_021097.5(SLC8A1):c.1046C>G (p.Ala349Gly)not specified [RCV005279758]uncertain significance24042923540429235Humanname
598260310CV3922060single nucleotide variantNM_021097.5(SLC8A1):c.1523G>T (p.Gly508Val)not specified [RCV005279759]uncertain significance24042875840428758Humanname
598260316CV3922061single nucleotide variantNM_021097.5(SLC8A1):c.1477G>A (p.Val493Met)not specified [RCV005279760]uncertain significance24042880440428804Humanname
598237638CV3922062single nucleotide variantNM_021097.5(SLC8A1):c.2095G>A (p.Ala699Thr)not specified [RCV005275694]uncertain significance24016492840164928Humanname
598260322CV3922063single nucleotide variantNM_021097.5(SLC8A1):c.1078A>G (p.Ser360Gly)not specified [RCV005279761]uncertain significance24042920340429203Humanname
598260333CV3922065single nucleotide variantNM_021097.5(SLC8A1):c.2059C>T (p.Pro687Ser)not specified [RCV005279763]uncertain significance24016496440164964Humanname
8625368CV80491single nucleotide variantNM_001112800.1(SLC8A1):c.498C>T (p.Leu166=)Malignant melanoma [RCV000060568]not provided24042978340429783Humanname
8630353CV85508single nucleotide variantNM_001112800.1(SLC8A1):c.1995G>A (p.Pro665=)Malignant melanoma [RCV000065591]not provided24017030940170309Humanname
41407584CV963010deletionNM_021097.5(SLC8A1):c.1808+9112_1808+31346delMegacolon [RCV001290043]likely pathogenic24039712740419361Human2name
8630352CV85507single nucleotide variantNM_001112800.1(SLC8A1):c.2104G>A (p.Gly702Arg)Malignant melanoma [RCV000065590]not provided24016490440164904Humanname
8630354CV85509single nucleotide variantNM_001112800.1(SLC8A1):c.1462G>A (p.Asp488Asn)Malignant melanoma [RCV000065592]not provided24042881940428819Humanname