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78 records found for search term Kcnab2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405262401CV3200244deletionNM_001199862.2(KCNAB2):c.*9delKCNAB2-related disorder [RCV003967289]likely benign160985796098579Humanname , trait , alternate_id
401935291CV2805590single nucleotide variantNM_001199862.2(KCNAB2):c.425+6G>AKCNAB2-related disorder [RCV003954097]|not provided [RCV003412715]likely benign160852546085254Humanname , trait , alternate_id
15192251CV730013single nucleotide variantNM_001199862.2(KCNAB2):c.732+5G>AKCNAB2-related disorder [RCV003930731]|not provided [RCV000888610]benign160944906094490Humanname , trait , alternate_id
15198609CV758903single nucleotide variantNM_001199862.2(KCNAB2):c.263-7C>Tnot provided [RCV000912309]likely benign160737266073726Humanname
15140260CV759045single nucleotide variantNM_001199862.2(KCNAB2):c.601+5G>Anot provided [RCV000921650]likely benign160904806090480Humanname
15185958CV774530single nucleotide variantNM_001199862.2(KCNAB2):c.301-7G>Anot provided [RCV000931210]likely benign160821886082188Humanname
15108449CV774547single nucleotide variantNM_001199862.2(KCNAB2):c.263-6T>Cnot provided [RCV000938157]likely benign160737276073727Humanname
15164314CV778832single nucleotide variantNM_001199862.2(KCNAB2):c.949-9C>Tnot provided [RCV000970691]likely benign160966276096627Humanname
34890786CV904396single nucleotide variantNM_001199862.2(KCNAB2):c.514+8C>Tnot provided [RCV001171745]likely benign160890596089059Humanname
401935293CV2805592single nucleotide variantNM_001199862.2(KCNAB2):c.732+44C>Tnot provided [RCV003412717]likely benign160945296094529Humanname
405272616CV3210137single nucleotide variantNM_001199862.2(KCNAB2):c.218+10G>AKCNAB2-related disorder [RCV003914385]likely benign160517646051764Humanname , trait , alternate_id
15112047CV730014single nucleotide variantNM_001199862.2(KCNAB2):c.1159-5C>Tnot provided [RCV000894391]benign160984806098480Humanname
407425479CV3409529single nucleotide variantNM_001199862.2(KCNAB2):c.1158+51C>Tnot provided [RCV004585461]likely benign160974086097408Humanname
408377443CV3500748single nucleotide variantNM_001199862.2(KCNAB2):c.1158+58T>Cnot provided [RCV004722398]benign160974156097415Humanname
401935292CV2805591single nucleotide variantNM_001199862.2(KCNAB2):c.425+1065G>Anot provided [RCV003412716]benign|likely benign160863136086313Humanname
405270026CV3185790single nucleotide variantNM_003636.4(KCNAB2):c.21G>A (p.Thr7=)not provided [RCV003884866]likely benign160405896040589Humanname
401903462CV2805589single nucleotide variantNM_003636.4(KCNAB2):c.17C>T (p.Thr6Met)not provided [RCV003412714]likely benign160405856040585Humanname
15166318CV746588single nucleotide variantNM_003636.4(KCNAB2):c.105G>A (p.Gln35=)not provided [RCV000926840]likely benign160418586041858Humanname
15155168CV777154deletionNM_001199862.2(KCNAB2):c.380+10_380+14delKCNAB2-related disorder [RCV003913210]|not provided [RCV000946438]benign160822826082286Humanname , trait , alternate_id
155915040CV2203942single nucleotide variantNM_001199862.2(KCNAB2):c.21C>G (p.Ser7Arg)not specified [RCV004069990]uncertain significance160515576051557Humanname
155908683CV2307126single nucleotide variantNM_001199862.2(KCNAB2):c.22G>A (p.Glu8Lys)not specified [RCV004159607]uncertain significance160515586051558Humanname
329349915CV2456342single nucleotide variantNM_001199860.2(KCNAB2):c.20C>T (p.Thr7Met)not specified [RCV004275508]uncertain significance160405886040588Humanname
405280872CV3190601single nucleotide variantNM_001199862.2(KCNAB2):c.14C>T (p.Thr5Met)KCNAB2-related disorder [RCV003907039]likely benign160515506051550Humanname , trait , alternate_id
15192247CV719039single nucleotide variantNM_001199862.2(KCNAB2):c.279C>T (p.Phe93=)not provided [RCV000888609]likely benign160737496073749Humanname
8629622CV84769single nucleotide variantNM_001199862.1(KCNAB2):c.177C>T (p.Ser59=)Malignant melanoma [RCV000064851]not provided160517136051713Humanname
156293336CV2293047single nucleotide variantNM_001199862.2(KCNAB2):c.59A>G (p.Glu20Gly)not specified [RCV004148799]uncertain significance160515956051595Humanname
156000292CV2378687single nucleotide variantNM_001199862.2(KCNAB2):c.31C>T (p.Arg11Trp)not specified [RCV004231155]uncertain significance160515676051567Humanname
405284698CV3190478single nucleotide variantNM_001199862.2(KCNAB2):c.309G>A (p.Glu103=)KCNAB2-related disorder [RCV003909286]likely benign160822036082203Humanname , trait , alternate_id
405279922CV3200206single nucleotide variantNM_001199862.2(KCNAB2):c.438C>T (p.Leu146=)KCNAB2-related disorder [RCV003977127]likely benign160874796087479Humanname , trait , alternate_id
405272030CV3203050single nucleotide variantNM_001199862.2(KCNAB2):c.375C>T (p.Ala125=)KCNAB2-related disorder [RCV003914102]benign160822696082269Humanname , trait , alternate_id
405278351CV3221835single nucleotide variantNM_001199862.2(KCNAB2):c.354T>C (p.Asp118=)KCNAB2-related disorder [RCV003976401]benign160822486082248Humanname , trait , alternate_id
405806276CV3268447single nucleotide variantNM_001199862.2(KCNAB2):c.32G>A (p.Arg11Gln)not specified [RCV004405961]uncertain significance160515686051568Humanname
405806278CV3268448single nucleotide variantNM_001199862.2(KCNAB2):c.37G>A (p.Val13Met)not specified [RCV004405962]uncertain significance160515736051573Humanname
405806280CV3268449single nucleotide variantNM_001199860.2(KCNAB2):c.41C>T (p.Ser14Leu)not specified [RCV004405963]uncertain significance160406096040609Humanname
405806282CV3268450single nucleotide variantNM_001199862.2(KCNAB2):c.79C>T (p.Arg27Cys)not specified [RCV004405964]uncertain significance160516156051615Humanname
15155174CV696818single nucleotide variantNM_001199862.2(KCNAB2):c.390G>A (p.Val130=)not provided [RCV000946439]benign|likely benign160852136085213Humanname
15136952CV707482single nucleotide variantNM_001199862.2(KCNAB2):c.498G>A (p.Arg166=)KCNAB2-related disorder [RCV003916188]|not provided [RCV000965534]likely benign160890356089035Humanname , trait , alternate_id
15103918CV719040single nucleotide variantNM_001199862.2(KCNAB2):c.834G>A (p.Pro278=)not provided [RCV000892776]benign160954246095424Humanname
15178084CV732531single nucleotide variantNM_001199862.2(KCNAB2):c.927C>A (p.Pro309=)not provided [RCV000906793]benign160956036095603Humanname
15193593CV746589single nucleotide variantNM_001199862.2(KCNAB2):c.402C>T (p.Asn134=)not provided [RCV000910884]likely benign160852256085225Humanname
15120025CV746590single nucleotide variantNM_001199862.2(KCNAB2):c.552C>T (p.Tyr184=)KCNAB2-related disorder [RCV003913081]|not provided [RCV000918245]likely benign160904266090426Humanname , trait , alternate_id
15193750CV746591single nucleotide variantNM_001199862.2(KCNAB2):c.705G>A (p.Thr235=)not provided [RCV000910928]likely benign160944586094458Humanname
15195222CV746592single nucleotide variantNM_001199862.2(KCNAB2):c.771G>A (p.Pro257=)KCNAB2-related disorder [RCV003977977]|not provided [RCV000911354]likely benign160953616095361Humanname , trait , alternate_id
15131378CV780746single nucleotide variantNM_001199862.2(KCNAB2):c.768C>G (p.Thr256=)not provided [RCV000981204]likely benign160953586095358Humanname
150448108CV1275493single nucleotide variantNM_001199862.2(KCNAB2):c.1176A>G (p.Ser392=)KCNAB2-related disorder [RCV003976040]|not provided [RCV001707948]benign160985026098502Humanname , trait , alternate_id
155641302CV1709620single nucleotide variantNM_001199862.2(KCNAB2):c.125C>T (p.Ala42Val)not provided [RCV002292720]likely benign160516616051661Humanname
156033467CV2376594single nucleotide variantNM_001199862.2(KCNAB2):c.112C>T (p.Arg38Trp)not specified [RCV004220755]uncertain significance160516486051648Humanname
329364600CV2443727single nucleotide variantNM_001199862.2(KCNAB2):c.199C>T (p.Arg67Cys)not specified [RCV004256027]uncertain significance160517356051735Humanname
329391565CV2452926single nucleotide variantNM_001199862.2(KCNAB2):c.124G>A (p.Ala42Thr)not specified [RCV004277562]uncertain significance160516606051660Humanname
405262502CV3200433single nucleotide variantNM_001199862.2(KCNAB2):c.1020G>A (p.Leu340=)KCNAB2-related disorder [RCV003967327]likely benign160967076096707Humanname , trait , alternate_id
405285625CV3206552single nucleotide variantNM_001199862.2(KCNAB2):c.105G>C (p.Gln35His)KCNAB2-related disorder [RCV003981250]benign160516416051641Humanname , trait , alternate_id
405279280CV3206907single nucleotide variantNM_001199862.2(KCNAB2):c.122G>A (p.Arg41Gln)KCNAB2-related disorder [RCV003919465]likely benign160516586051658Humanname , trait , alternate_id
405806272CV3268445single nucleotide variantNM_001199862.2(KCNAB2):c.152G>C (p.Ser51Thr)not specified [RCV004405959]uncertain significance160516886051688Humanname
405806274CV3268446single nucleotide variantNM_001199862.2(KCNAB2):c.193G>A (p.Ala65Thr)not specified [RCV004405960]uncertain significance160517296051729Humanname
15194462CV696819single nucleotide variantNM_001199862.2(KCNAB2):c.1170A>G (p.Lys390=)not provided [RCV000955654]likely benign160984966098496Humanname
15155754CV746593single nucleotide variantNM_001199862.2(KCNAB2):c.1032C>T (p.Ala344=)KCNAB2-related disorder [RCV003913116]|not provided [RCV000924528]benign|likely benign160967196096719Humanname , trait , alternate_id
15121770CV746594single nucleotide variantNM_001199862.2(KCNAB2):c.1161C>T (p.Val387=)not provided [RCV000918537]likely benign160984876098487Humanname
15132176CV780747single nucleotide variantNM_001199862.2(KCNAB2):c.1101C>T (p.Ser367=)not provided [RCV000981336]likely benign160973006097300Humanname
42723667CV984553single nucleotide variantNM_001199862.2(KCNAB2):c.113G>A (p.Arg38Gln)KCNAB2-related epilepsy [RCV004799640]|not specified [RCV004035581]uncertain significance160516496051649Human1name , trait
156365697CV2193254single nucleotide variantNM_001199862.2(KCNAB2):c.787G>A (p.Ala263Thr)not specified [RCV004071237]uncertain significance160953776095377Humanname
156287812CV2229673single nucleotide variantNM_001199862.2(KCNAB2):c.994C>T (p.Arg332Cys)not specified [RCV004103482]uncertain significance160966816096681Humanname
156307881CV2249440single nucleotide variantNM_001199862.2(KCNAB2):c.710G>A (p.Arg237His)not specified [RCV004120497]uncertain significance160944636094463Humanname
156136618CV2364988single nucleotide variantNM_001199862.2(KCNAB2):c.661A>G (p.Met221Val)not specified [RCV004222281]uncertain significance160944146094414Humanname
329396227CV2462443single nucleotide variantNM_001199862.2(KCNAB2):c.574C>T (p.Arg192Cys)not specified [RCV004276634]uncertain significance160904486090448Humanname
401719349CV2701063single nucleotide variantNM_001199862.2(KCNAB2):c.987G>C (p.Glu329Asp)not specified [RCV004309662]uncertain significance160966746096674Humanname
401750190CV2701064single nucleotide variantNM_001199862.2(KCNAB2):c.988G>T (p.Gly330Cys)not specified [RCV004309663]uncertain significance160966756096675Humanname
597787444CV3691109single nucleotide variantNM_001199862.2(KCNAB2):c.991C>T (p.Arg331Trp)not specified [RCV004932500]uncertain significance160966786096678Humanname
597787448CV3691110single nucleotide variantNM_001199862.2(KCNAB2):c.902G>T (p.Gly301Val)not specified [RCV004932501]uncertain significance160955786095578Humanname
598212719CV3980154single nucleotide variantNM_001199862.2(KCNAB2):c.658G>A (p.Ala220Thr)not specified [RCV005358866]uncertain significance160944116094411Humanname
598234711CV3980155single nucleotide variantNM_001199862.2(KCNAB2):c.775A>G (p.Ile259Val)not specified [RCV005363549]uncertain significance160953656095365Humanname
13532087CV511284single nucleotide variantNM_001199862.2(KCNAB2):c.535C>T (p.Arg179Ter)Inborn genetic diseases [RCV000623902]uncertain significance160904096090409Human1name
8629623CV84770single nucleotide variantNM_001199862.1(KCNAB2):c.617C>T (p.Ser206Phe)Malignant melanoma [RCV000064852]not provided160912786091278Humanname
10449899CV215211single nucleotide variantNM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val)KCNAB2-related disorder [RCV003967542]|not provided [RCV000974071]|not specified [RCV000203075]benign|likely benign|uncertain significance160985096098509Humanname , trait , alternate_id
156058717CV2262916single nucleotide variantNM_001199862.2(KCNAB2):c.1121A>G (p.Asn374Ser)not specified [RCV004125057]likely benign160973206097320Humanname
156385788CV2364564single nucleotide variantNM_001199862.2(KCNAB2):c.1009C>A (p.Leu337Met)not specified [RCV004217420]uncertain significance160966966096696Humanname
329381086CV2464492single nucleotide variantNM_001199862.2(KCNAB2):c.1187T>G (p.Ile396Ser)not specified [RCV004276409]uncertain significance160985136098513Humanname
597787439CV3691108single nucleotide variantNM_001199862.2(KCNAB2):c.1146T>G (p.Ile382Met)not specified [RCV004932499]uncertain significance160973456097345Humanname
597787452CV3691111single nucleotide variantNM_001199862.2(KCNAB2):c.1201A>G (p.Ser401Gly)not specified [RCV004932502]uncertain significance160985276098527Humanname