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54 records found for search term Cacnb1
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11525871CV247133single nucleotide variantNM_000723.5(CACNB1):c.649-4C>Anot specified [RCV000238994]likely benign173918486839184868Humanname
401935754CV2811287single nucleotide variantNM_000723.5(CACNB1):c.628+426C>Tnot provided [RCV003413215]likely benign173918607039186070Humanname
401903911CV2811288single nucleotide variantNM_000723.5(CACNB1):c.63G>A (p.Glu21=)not provided [RCV003419716]likely benign173919743339197433Humanname
8636112CV91335single nucleotide variantNM_000723.4(CACNB1):c.249G>A (p.Lys83=)Malignant melanoma [RCV000071433]not provided173919151639191516Humanname
405752670CV3302320single nucleotide variantNM_000723.5(CACNB1):c.70G>A (p.Asp24Asn)not specified [RCV004432351]uncertain significance173919742639197426Humanname
156051506CV2336668single nucleotide variantNM_000723.5(CACNB1):c.239C>G (p.Ala80Gly)not specified [RCV004196909]uncertain significance173919152639191526Humanname
401935753CV2811285single nucleotide variantNM_000723.5(CACNB1):c.1431C>A (p.Gly477=)not provided [RCV003413214]likely benign173917555939175559Humanname
401914223CV2811286single nucleotide variantNM_000723.5(CACNB1):c.1116G>A (p.Ala372=)not provided [RCV003428250]likely benign173917801439178014Humanname
597762984CV3637543single nucleotide variantNM_000723.5(CACNB1):c.233G>A (p.Arg78Gln)not specified [RCV004895284]uncertain significance173919153239191532Humanname
15113400CV715406single nucleotide variantNM_000723.5(CACNB1):c.1461G>A (p.Arg487=)not provided [RCV000961485]benign173917552939175529Humanname
15147985CV715407single nucleotide variantNM_000723.5(CACNB1):c.1392C>T (p.Ser464=)not provided [RCV000967452]benign173917559839175598Humanname
156052221CV2269410single nucleotide variantNM_000723.5(CACNB1):c.656A>G (p.His219Arg)not specified [RCV004124534]uncertain significance173918485739184857Humanname
156344948CV2372843single nucleotide variantNM_000723.5(CACNB1):c.988G>A (p.Ala330Thr)not specified [RCV004222025]uncertain significance173918377539183775Humanname
329400660CV2438624single nucleotide variantNM_000723.5(CACNB1):c.662C>T (p.Pro221Leu)not specified [RCV004261795]uncertain significance173918485139184851Humanname
401868581CV2788121single nucleotide variantNM_000723.5(CACNB1):c.439G>A (p.Gly147Arg)not specified [RCV004352744]uncertain significance173918690539186905Humanname
405752650CV3302317single nucleotide variantNM_000723.5(CACNB1):c.530G>A (p.Arg177His)not specified [RCV004432348]uncertain significance173918681439186814Humanname
405752657CV3302318single nucleotide variantNM_000723.5(CACNB1):c.596C>T (p.Thr199Ile)not specified [RCV004432349]uncertain significance173918652839186528Humanname
405752664CV3302319single nucleotide variantNM_000723.5(CACNB1):c.698T>C (p.Ile233Thr)not specified [RCV004432350]uncertain significance173918481539184815Humanname
407497114CV3428246single nucleotide variantNM_000723.5(CACNB1):c.833G>A (p.Arg278His)not specified [RCV004606285]uncertain significance173918409639184096Humanname
407497118CV3428247single nucleotide variantNM_000723.5(CACNB1):c.353A>G (p.Glu118Gly)not specified [RCV004606286]uncertain significance173918754039187540Humanname
407497122CV3428248single nucleotide variantNM_000723.5(CACNB1):c.847A>C (p.Asn283His)not specified [RCV004606287]uncertain significance173918408239184082Humanname
597762958CV3637535single nucleotide variantNM_000723.5(CACNB1):c.316C>T (p.Arg106Trp)not specified [RCV004895278]uncertain significance173918757739187577Humanname
597750459CV3637537single nucleotide variantNM_000723.5(CACNB1):c.809C>T (p.Thr270Met)not specified [RCV004892589]uncertain significance173918412039184120Humanname
598202488CV3946616single nucleotide variantNM_000723.5(CACNB1):c.538C>T (p.Arg180Cys)not specified [RCV005314468]uncertain significance173918680639186806Humanname
598202495CV3946617single nucleotide variantNM_000723.5(CACNB1):c.487G>A (p.Val163Ile)not specified [RCV005314469]uncertain significance173918685739186857Humanname
598202501CV3946618single nucleotide variantNM_000723.5(CACNB1):c.529C>T (p.Arg177Cys)not specified [RCV005314470]uncertain significance173918681539186815Humanname
598202511CV3946620single nucleotide variantNM_000723.5(CACNB1):c.617C>T (p.Pro206Leu)not specified [RCV005314472]uncertain significance173918650739186507Humanname
21075606CV797523single nucleotide variantNM_000723.5(CACNB1):c.730G>T (p.Val244Phe)not provided [RCV000996528]uncertain significance173918438339184383Humanname
156258670CV2274050single nucleotide variantNM_000723.5(CACNB1):c.1667A>G (p.Glu556Gly)not specified [RCV004134705]uncertain significance173917532339175323Humanname
156030630CV2278733single nucleotide variantNM_000723.5(CACNB1):c.1600G>A (p.Asp534Asn)not specified [RCV004134925]uncertain significance173917539039175390Humanname
156091370CV2302651single nucleotide variantNM_000723.5(CACNB1):c.1195G>A (p.Glu399Lys)not specified [RCV004162597]uncertain significance173917748739177487Humanname
329352353CV2452908single nucleotide variantNM_000723.5(CACNB1):c.1643G>T (p.Trp548Leu)not specified [RCV004277547]uncertain significance173917534739175347Humanname
329401616CV2457222single nucleotide variantNM_000723.5(CACNB1):c.1234A>G (p.Thr412Ala)not specified [RCV004265295]uncertain significance173917744839177448Humanname
329401721CV2457333single nucleotide variantNM_000723.5(CACNB1):c.1141C>A (p.Pro381Thr)not specified [RCV004267174]uncertain significance173917798939177989Humanname
401782545CV2686916single nucleotide variantNM_000723.5(CACNB1):c.1602C>A (p.Asp534Glu)not specified [RCV004302087]uncertain significance173917538839175388Humanname
401732821CV2705045single nucleotide variantNM_000723.5(CACNB1):c.1219G>A (p.Ala407Thr)not specified [RCV004309963]uncertain significance173917746339177463Humanname
401717617CV2714170single nucleotide variantNM_000723.5(CACNB1):c.1591G>T (p.Gly531Trp)not specified [RCV004317415]uncertain significance173917539939175399Humanname
401864006CV2784900single nucleotide variantNM_000723.5(CACNB1):c.1687C>T (p.Arg563Trp)not specified [RCV004352676]uncertain significance173917530339175303Humanname
405752616CV3302313single nucleotide variantNM_000723.5(CACNB1):c.1217A>T (p.Glu406Val)not specified [RCV004432344]uncertain significance173917746539177465Humanname
405752626CV3302314single nucleotide variantNM_000723.5(CACNB1):c.1288A>G (p.Thr430Ala)not specified [RCV004432345]uncertain significance173917739439177394Humanname
405752634CV3302315single nucleotide variantNM_000723.5(CACNB1):c.1378G>A (p.Gly460Arg)not specified [RCV004432346]uncertain significance173917561239175612Humanname
405752641CV3302316single nucleotide variantNM_000723.5(CACNB1):c.1769G>A (p.Gly590Asp)not specified [RCV004432347]uncertain significance173917522139175221Humanname
597762949CV3637533single nucleotide variantNM_000723.5(CACNB1):c.1747C>T (p.Arg583Cys)not specified [RCV004895276]uncertain significance173917524339175243Humanname
597762954CV3637534single nucleotide variantNM_000723.5(CACNB1):c.1283T>C (p.Met428Thr)not specified [RCV004895277]uncertain significance173917739939177399Humanname
597762963CV3637536single nucleotide variantNM_000723.5(CACNB1):c.1115C>T (p.Ala372Val)not specified [RCV004895279]uncertain significance173917801539178015Humanname
597762968CV3637538single nucleotide variantNM_000723.5(CACNB1):c.1612G>T (p.Gly538Cys)not specified [RCV004895280]uncertain significance173917537839175378Humanname
597750464CV3637539single nucleotide variantNM_000723.5(CACNB1):c.1468A>C (p.Thr490Pro)not specified [RCV004892590]uncertain significance173917552239175522Humanname
597762972CV3637540single nucleotide variantNM_000723.5(CACNB1):c.1694G>A (p.Arg565Gln)not specified [RCV004895281]uncertain significance173917529639175296Humanname
597762976CV3637541single nucleotide variantNM_000723.5(CACNB1):c.1399G>C (p.Glu467Gln)not specified [RCV004895282]uncertain significance173917559139175591Humanname
597762981CV3637542single nucleotide variantNM_000723.5(CACNB1):c.1661A>G (p.Asp554Gly)not specified [RCV004895283]uncertain significance173917532939175329Humanname
597762989CV3637544single nucleotide variantNM_000723.5(CACNB1):c.1210T>C (p.Tyr404His)not specified [RCV004895285]uncertain significance173917747239177472Humanname
598202516CV3946621single nucleotide variantNM_000723.5(CACNB1):c.1370G>A (p.Arg457Gln)not specified [RCV005314473]uncertain significance173917562039175620Humanname
598212258CV3946622single nucleotide variantNM_000723.5(CACNB1):c.1336C>A (p.Pro446Thr)not specified [RCV005316142]uncertain significance173917565439175654Humanname
598212266CV3946623single nucleotide variantNM_000723.5(CACNB1):c.1325A>G (p.Asn442Ser)not specified [RCV005316143]uncertain significance173917735739177357Humanname