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Pathways
Variants search result for Homo sapiens
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157 records found for search term Csnk2b
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405282586CV3213008single nucleotide variantNM_001320.7(CSNK2B):c.-1G>CCSNK2B-related disorder [RCV003957109]likely benign63166683131666831Humanname , trait , alternate_id
150476460CV1239883single nucleotide variantNM_001320.7(CSNK2B):c.*31A>Tnot provided [RCV001652060]benign63166995731669957Humanname
150430387CV1242962single nucleotide variantNM_001320.7(CSNK2B):c.*104C>Tnot provided [RCV001662895]benign63167003031670030Humanname
153001466CV1319626single nucleotide variantNM_001320.7(CSNK2B):c.73-1G>APoirier-Bienvenu neurodevelopmental syndrome [RCV002255105]|not provided [RCV005416545]pathogenic|likely pathogenic63166786731667867Human1name
151729482CV1517674single nucleotide variantNM_001320.7(CSNK2B):c.72+2T>GAutosomal dominant non-syndromic intellectual disability [RCV002052288]likely pathogenic63166690531666905Human1name
156435017CV2403304single nucleotide variantNM_001320.7(CSNK2B):c.72+1G>TAutism spectrum disorder [RCV003127240]likely pathogenic63166690431666904Human2name
13532200CV511652single nucleotide variantNM_001320.7(CSNK2B):c.73-2A>GInborn genetic diseases [RCV000624000]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004797842]pathogenic|likely pathogenic63166786631667866Human2name
40886685CV973536single nucleotide variantNM_001320.7(CSNK2B):c.72+1G>AInborn genetic diseases [RCV001265893]|Poirier-Bienvenu neurodevelopmental syndrome [RCV001732100]|not provided [RCV004727061]pathogenic|likely pathogenic63166690431666904Human2name
126726432CV1016713single nucleotide variantNM_001320.7(CSNK2B):c.292-2A>CPoirier-Bienvenu neurodevelopmental syndrome [RCV001331966]pathogenic|likely pathogenic63166909531669095Human1name
150335700CV1165782single nucleotide variantNM_001320.7(CSNK2B):c.292-2A>Tnot provided [RCV001531621]pathogenic|likely pathogenic63166909531669095Humanname
150467817CV1269295single nucleotide variantNM_001320.7(CSNK2B):c.72+78G>Anot provided [RCV001694703]benign63166698131666981Humanname
150452490CV1275270single nucleotide variantNM_001320.7(CSNK2B):c.367+6T>CPoirier-Bienvenu neurodevelopmental syndrome [RCV001706783]uncertain significance63166917831669178Human1name
150547745CV1292166single nucleotide variantNM_001320.7(CSNK2B):c.367+1G>APoirier-Bienvenu neurodevelopmental syndrome [RCV001733825]pathogenic63166917331669173Human1name
150557121CV1310460single nucleotide variantNM_001320.7(CSNK2B):c.292-2A>GPoirier-Bienvenu neurodevelopmental syndrome [RCV001775388]pathogenic|likely pathogenic63166909531669095Human1name
151234543CV1320311single nucleotide variantNM_001320.7(CSNK2B):c.557+1G>Anot provided [RCV001799935]pathogenic63166950931669509Humanname
152041110CV1519456single nucleotide variantNM_001320.7(CSNK2B):c.291+1G>TPoirier-Bienvenu neurodevelopmental syndrome [RCV002071022]likely pathogenic63166865531668655Human1name
243065094CV2409590single nucleotide variantNM_001320.7(CSNK2B):c.557+1G>CPoirier-Bienvenu neurodevelopmental syndrome [RCV003143862]likely pathogenic63166950931669509Human1name
243055741CV2416056single nucleotide variantNM_001320.7(CSNK2B):c.291+5G>CPoirier-Bienvenu neurodevelopmental syndrome [RCV003149116]likely pathogenic63166865931668659Human1name
401907172CV2800129single nucleotide variantNM_001320.7(CSNK2B):c.175+1G>ACSNK2B-related disorder [RCV003397265]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004798041]pathogenic|likely pathogenic63166797131667971Human1name , trait , alternate_id
407500597CV3495526single nucleotide variantNM_001320.7(CSNK2B):c.367+1G>Cnot provided [RCV004697366]pathogenic63166917331669173Humanname
408377677CV3501618single nucleotide variantNM_001320.7(CSNK2B):c.558-2A>Gnot provided [RCV004727677]pathogenic63166983431669834Humanname
408370070CV3507772single nucleotide variantNM_001320.7(CSNK2B):c.558-2A>CCSNK2B-related disorder [RCV004739039]likely pathogenic63166983431669834Humanname , trait , alternate_id
596921923CV3535552single nucleotide variantNM_001320.7(CSNK2B):c.291+1G>APoirier-Bienvenu neurodevelopmental syndrome [RCV004785107]pathogenic|likely pathogenic63166865531668655Human1name
598199513CV3892559single nucleotide variantNM_001320.7(CSNK2B):c.292-1G>Anot provided [RCV005254392]pathogenic63166909631669096Humanname
598160247CV3959418single nucleotide variantNM_001320.7(CSNK2B):c.291+2T>CInborn genetic diseases [RCV005328731]uncertain significance63166865631668656Human1name
616940231CV4014741single nucleotide variantNM_001320.7(CSNK2B):c.176-2A>Cnot provided [RCV005414235]pathogenic63166853731668537Humanname
14746803CV672066deletionNM_001320.7(CSNK2B):c.367+5delPoirier-Bienvenu neurodevelopmental syndrome [RCV002221588]|Seizure [RCV000845042]|not provided [RCV001560828]pathogenic|likely pathogenic|not provided63166917731669177Human5name
21068688CV794103single nucleotide variantNM_001320.7(CSNK2B):c.175+2T>GPoirier-Bienvenu neurodevelopmental syndrome [RCV000993565]|not provided [RCV004818102]pathogenic63166797231667972Human1name
21068821CV794108single nucleotide variantNM_001320.7(CSNK2B):c.368-2A>GPoirier-Bienvenu neurodevelopmental syndrome [RCV000993570]pathogenic63166931731669317Human1name
21405279CV800763single nucleotide variantNM_001320.7(CSNK2B):c.367+2T>CPoirier-Bienvenu neurodevelopmental syndrome [RCV001003349]pathogenic63166917431669174Human1name
150459690CV1236130single nucleotide variantNM_001320.7(CSNK2B):c.-11-28A>Cnot provided [RCV001649101]benign63166679331666793Humanname
155730783CV1780891single nucleotide variantNM_001320.7(CSNK2B):c.558-11C>Tnot specified [RCV002308681]uncertain significance63166982531669825Humanname
150334013CV1171547single nucleotide variantNM_001320.7(CSNK2B):c.292-132A>Gnot provided [RCV001539744]benign63166896531668965Human2name
405275105CV3204640single nucleotide variantNM_001320.7(CSNK2B):c.6C>T (p.Ser2=)CSNK2B-related disorder [RCV003952045]likely benign63166683731666837Humanname , trait , alternate_id
150507320CV1244536single nucleotide variantNM_001320.7(CSNK2B):c.2T>G (p.Met1Arg)not provided [RCV001658785]pathogenic63166683331666833Humanname
408380555CV3501198single nucleotide variantNM_001320.7(CSNK2B):c.3G>A (p.Met1Ile)Poirier-Bienvenu neurodevelopmental syndrome [RCV005250354]|not provided [RCV004727286]pathogenic|likely pathogenic63166683431666834Human1name
597716181CV3733244duplicationNM_001320.7(CSNK2B):c.19dup (p.Val7fs)not provided [RCV005052434]pathogenic63166684831666849Humanname
13794617CV553382single nucleotide variantNM_001320.7(CSNK2B):c.2T>A (p.Met1Lys)not provided [RCV000681657]likely pathogenic63166683331666833Humanname
38467344CV920754single nucleotide variantNM_001320.7(CSNK2B):c.1A>G (p.Met1Val)Poirier-Bienvenu neurodevelopmental syndrome [RCV004726946]|not provided [RCV001200288]pathogenic|likely pathogenic63166683231666832Human1name
155644502CV1707962duplicationNM_001320.7(CSNK2B):c.99dup (p.Phe34fs)Poirier-Bienvenu neurodevelopmental syndrome [RCV002289423]likely pathogenic63166789131667892Human1name
243050093CV2419557single nucleotide variantNM_001320.7(CSNK2B):c.27G>A (p.Trp9Ter)not provided [RCV003156489]pathogenic63166685831666858Humanname
401920485CV2822884single nucleotide variantNM_001320.7(CSNK2B):c.13G>T (p.Glu5Ter)not provided [RCV003431756]pathogenic63166684431666844Humanname
405291599CV3205899single nucleotide variantNM_001320.7(CSNK2B):c.252C>T (p.His84=)CSNK2B-related disorder [RCV003964014]likely benign63166861531668615Humanname , trait , alternate_id
405293128CV3221287single nucleotide variantNM_001320.7(CSNK2B):c.292T>C (p.Leu98=)CSNK2B-related disorder [RCV003966810]likely benign63166909731669097Humanname , trait , alternate_id
15176524CV721949single nucleotide variantNM_001320.7(CSNK2B):c.108T>A (p.Leu36=)not provided [RCV000884603]benign63166790331667903Humanname
127244291CV1053753single nucleotide variantNM_001320.7(CSNK2B):c.91C>T (p.Gln31Ter)Poirier-Bienvenu neurodevelopmental syndrome [RCV001376051]pathogenic63166788631667886Human1name
150429453CV1189209duplicationNM_001320.7(CSNK2B):c.268dup (p.Thr90fs)CSNK2B-related intellectual disability with or without epilepsy [RCV001563630]pathogenic63166863031668631Humanname , trait
150432262CV1236701deletionNM_001320.7(CSNK2B):c.175+217_175+220delnot provided [RCV001642106]benign63166818731668190Humanname
150471144CV1259054deletionNM_001320.7(CSNK2B):c.175+213_175+215delnot provided [RCV001684298]benign63166818231668184Humanname
151353456CV1326590duplicationNM_001320.7(CSNK2B):c.194dup (p.Asn65fs)not provided [RCV001816422]likely pathogenic63166855531668556Humanname
151663333CV1331074single nucleotide variantNM_001320.7(CSNK2B):c.70G>T (p.Glu24Ter)CSNK2B-related disorder [RCV004545832]not provided63166690131666901Humanname , trait , alternate_id
152154027CV1667815single nucleotide variantNM_001320.7(CSNK2B):c.94G>C (p.Asp32His)Intellectual disability-craniodigital syndrome [RCV002221707]pathogenic63166788931667889Humanname
152982833CV1677694single nucleotide variantNM_001320.7(CSNK2B):c.94G>T (p.Asp32Tyr)Poirier-Bienvenu neurodevelopmental syndrome [RCV002249847]|not provided [RCV004820239]pathogenic63166788931667889Human1name
155797397CV1860355single nucleotide variantNM_001320.7(CSNK2B):c.32C>T (p.Ser11Phe)not provided [RCV002466997]uncertain significance63166686331666863Humanname
156329622CV2216454single nucleotide variantNM_001320.7(CSNK2B):c.67T>C (p.Cys23Arg)Inborn genetic diseases [RCV002717833]uncertain significance63166689831666898Human1name
243062531CV2404978single nucleotide variantNM_001320.7(CSNK2B):c.501C>T (p.Leu167=)Poirier-Bienvenu neurodevelopmental syndrome [RCV003225802]uncertain significance63166945231669452Human1name
401858427CV2750605deletionNM_001320.7(CSNK2B):c.192del (p.Asp64fs)not provided [RCV003334278]pathogenic63166855531668555Humanname
401920486CV2822885single nucleotide variantNM_001320.7(CSNK2B):c.582G>A (p.Pro194=)not provided [RCV003431757]likely benign63166986031669860Humanname
405261932CV3184846single nucleotide variantNM_001320.7(CSNK2B):c.95A>C (p.Asp32Ala)Poirier-Bienvenu neurodevelopmental syndrome [RCV003885419]pathogenic63166789031667890Human1name
405278612CV3216705single nucleotide variantNM_001320.7(CSNK2B):c.639G>A (p.Thr213=)CSNK2B-related disorder [RCV003954591]likely benign63166991731669917Humanname , trait , alternate_id
405289799CV3219731single nucleotide variantNM_001320.7(CSNK2B):c.462G>A (p.Thr154=)CSNK2B-related disorder [RCV003961971]likely benign63166941331669413Humanname , trait , alternate_id
408380443CV3501134single nucleotide variantNM_001320.7(CSNK2B):c.516C>T (p.Pro172=)not provided [RCV004727222]likely benign63166946731669467Humanname
598233121CV3886529single nucleotide variantNM_001320.7(CSNK2B):c.50G>A (p.Arg17His)Poirier-Bienvenu neurodevelopmental syndrome [RCV005255973]uncertain significance63166688131666881Human1name
598224836CV3894171single nucleotide variantNM_001320.7(CSNK2B):c.468C>T (p.Gly156=)not provided [RCV005257414]likely benign63166941931669419Humanname
617154314CV4022711single nucleotide variantNM_001320.7(CSNK2B):c.88A>C (p.Ile30Leu)not provided [RCV005430069]uncertain significance63166788331667883Humanname
13208056CV424262duplicationNM_001320.7(CSNK2B):c.108dup (p.Thr37fs)Intellectual disability and seizures [RCV000495848]|Poirier-Bienvenu neurodevelopmental syndrome [RCV000993566]pathogenic63166790131667902Human1name
13509006CV481759single nucleotide variantNM_001320.7(CSNK2B):c.36G>A (p.Trp12Ter)Poirier-Bienvenu neurodevelopmental syndrome [RCV003448326]|not provided [RCV000578649]pathogenic|likely pathogenic63166686731666867Human1name
13520365CV495277duplicationNM_001320.7(CSNK2B):c.105dup (p.Leu36fs)not provided [RCV000598578]pathogenic63166789931667900Humanname
13532946CV511653single nucleotide variantNM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)CSNK2B-related disorder [RCV003411469]|Inborn genetic diseases [RCV000624714]|Poirier-Bienvenu neurodevelopmental syndrome [RCV003139949]|Seizure [RCV002221564]|not provided [RCV001860419]pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records63166788931667889Human19name , trait , alternate_id
15115366CV782508single nucleotide variantNM_001320.7(CSNK2B):c.462G>T (p.Thr154=)not provided [RCV000978390]likely benign63166941331669413Humanname
21068819CV794107deletionNM_001320.7(CSNK2B):c.265del (p.Thr90fs)Poirier-Bienvenu neurodevelopmental syndrome [RCV000993569]pathogenic|uncertain significance63166862731668627Human1name
28877671CV859502single nucleotide variantNM_001320.7(CSNK2B):c.68G>T (p.Cys23Phe)not provided [RCV001090483]uncertain significance63166689931666899Humanname
150427685CV1187056single nucleotide variantNM_001320.7(CSNK2B):c.229G>A (p.Glu77Lys)Poirier-Bienvenu neurodevelopmental syndrome [RCV005419180]|not provided [RCV001561261]pathogenic|uncertain significance63166859231668592Human1name
150481608CV1265655single nucleotide variantNM_001320.7(CSNK2B):c.101T>G (p.Phe34Cys)not provided [RCV001682651]likely pathogenic63166789631667896Humanname
150520403CV1289587deletionNM_001320.7(CSNK2B):c.472del (p.Tyr158fs)Poirier-Bienvenu neurodevelopmental syndrome [RCV001730004]pathogenic63166942331669423Human1name
150535750CV1312016single nucleotide variantNM_001320.7(CSNK2B):c.236T>C (p.Leu79Pro)not provided [RCV001779827]uncertain significance63166859931668599Humanname
151352217CV1322316single nucleotide variantNM_001320.7(CSNK2B):c.146C>A (p.Ala49Asp)not provided [RCV001806939]uncertain significance63166794131667941Humanname
152981447CV1676603single nucleotide variantNM_001320.7(CSNK2B):c.202C>T (p.Gln68Ter)Poirier-Bienvenu neurodevelopmental syndrome [RCV002246197]|not provided [RCV004729111]likely pathogenic63166856531668565Human1name
152982371CV1677310single nucleotide variantNM_001320.7(CSNK2B):c.116T>G (p.Leu39Arg)Poirier-Bienvenu neurodevelopmental syndrome [RCV002249016]likely pathogenic63166791131667911Human1name
152982372CV1677311single nucleotide variantNM_001320.7(CSNK2B):c.291G>A (p.Met97Ile)Poirier-Bienvenu neurodevelopmental syndrome [RCV002249017]likely pathogenic63166865431668654Human1name
153001922CV1682733single nucleotide variantNM_001320.7(CSNK2B):c.107T>C (p.Leu36Pro)Inborn genetic diseases [RCV004612160]|not provided [RCV002251812]pathogenic|likely pathogenic63166790231667902Human1name
155714691CV1760371single nucleotide variantNM_001320.7(CSNK2B):c.286C>T (p.Gln96Ter)not provided [RCV002300878]pathogenic63166864931668649Humanname
155798161CV1860608single nucleotide variantNM_001320.7(CSNK2B):c.257G>C (p.Arg86Pro)not provided [RCV002467250]likely pathogenic63166862031668620Humanname
155794728CV1860980duplicationNM_001320.7(CSNK2B):c.592dup (p.Gln198fs)Poirier-Bienvenu neurodevelopmental syndrome [RCV002468693]likely pathogenic63166986831669869Human1name
156227729CV2212830single nucleotide variantNM_001320.7(CSNK2B):c.116T>C (p.Leu39Pro)Inborn genetic diseases [RCV002712549]uncertain significance63166791131667911Human1name
156434817CV2403135single nucleotide variantNM_001320.7(CSNK2B):c.277G>A (p.Gly93Ser)not provided [RCV003127091]uncertain significance63166864031668640Humanname
329848136CV2667755single nucleotide variantNM_001320.7(CSNK2B):c.257G>A (p.Arg86His)Poirier-Bienvenu neurodevelopmental syndrome [RCV005429433]|not provided [RCV003229322]pathogenic|conflicting interpretations of pathogenicity|uncertain significance63166862031668620Human1name
401830115CV2743994single nucleotide variantNM_001320.7(CSNK2B):c.278G>T (p.Gly93Val)not provided [RCV003327262]uncertain significance63166864131668641Humanname
401830999CV2748647single nucleotide variantNM_001320.7(CSNK2B):c.124C>T (p.Gln42Ter)Inborn genetic diseases [RCV004614421]|Poirier-Bienvenu neurodevelopmental syndrome [RCV003330297]|not provided [RCV004823148]pathogenic63166791931667919Human2name
405261912CV3184840single nucleotide variantNM_001320.7(CSNK2B):c.289A>G (p.Met97Val)Poirier-Bienvenu neurodevelopmental syndrome [RCV003885413]uncertain significance63166865231668652Human1name
407425488CV3409533single nucleotide variantNM_001320.7(CSNK2B):c.203A>T (p.Gln68Leu)not provided [RCV004585465]uncertain significance63166856631668566Humanname
407496518CV3496634duplicationNM_001320.7(CSNK2B):c.216dup (p.Glu73Ter)not provided [RCV004696835]likely pathogenic63166857731668578Humanname
596943964CV3543105deletionNM_001320.7(CSNK2B):c.481del (p.Thr161fs)Poirier-Bienvenu neurodevelopmental syndrome [RCV004798689]pathogenic63166943231669432Human1name
596944588CV3543439single nucleotide variantNM_001320.7(CSNK2B):c.251A>T (p.His84Leu)not provided [RCV004801560]uncertain significance63166861431668614Humanname
598215188CV3890802single nucleotide variantNM_001320.7(CSNK2B):c.109A>C (p.Thr37Pro)not provided [RCV005251655]uncertain significance63166790431667904Humanname
12906333CV415042single nucleotide variantNM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter)CSNK2B-related disorder [RCV003942606]|Inborn genetic diseases [RCV001267434]|Poirier-Bienvenu neurodevelopmental syndrome [RCV002468581]|not provided [RCV001281589]pathogenic|uncertain significance63166793431667934Human2name , trait , alternate_id
13533143CV511654single nucleotide variantNM_001320.7(CSNK2B):c.238T>A (p.Tyr80Asn)Inborn genetic diseases [RCV000624903]uncertain significance63166860131668601Human1name
13794672CV553383single nucleotide variantNM_001320.7(CSNK2B):c.181G>T (p.Glu61Ter)not provided [RCV000681658]likely pathogenic63166854431668544Humanname
14978986CV677963single nucleotide variantNM_001320.7(CSNK2B):c.229G>T (p.Glu77Ter)not provided [RCV000851179]likely pathogenic63166859231668592Humanname
21068817CV794106duplicationNM_001320.7(CSNK2B):c.621dup (p.Lys208fs)Poirier-Bienvenu neurodevelopmental syndrome [RCV000993568]pathogenic63166989831669899Human1name
40886962CV973537single nucleotide variantNM_001320.7(CSNK2B):c.245T>A (p.Leu82Ter)Inborn genetic diseases [RCV001266304]pathogenic63166860831668608Human1name
40886873CV973538single nucleotide variantNM_001320.7(CSNK2B):c.256C>T (p.Arg86Cys)Inborn genetic diseases [RCV001266165]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004796398]|not provided [RCV001664792]pathogenic|likely pathogenic|uncertain significance63166861931668619Human2name
41406196CV980240deletionNM_001320.7(CSNK2B):c.577del (p.His193fs)not provided [RCV001280794]uncertain significance63166985431669854Humanname
150453185CV1275394single nucleotide variantNM_001320.7(CSNK2B):c.491C>G (p.Pro164Arg)Poirier-Bienvenu neurodevelopmental syndrome [RCV001706908]|not provided [RCV004774462]likely pathogenic|uncertain significance63166944231669442Human1name
150554042CV1297134single nucleotide variantNM_001320.7(CSNK2B):c.565G>A (p.Gly189Ser)not provided [RCV001770655]uncertain significance63166984331669843Humanname
150551185CV1297227single nucleotide variantNM_001320.7(CSNK2B):c.557G>T (p.Arg186Met)not provided [RCV001766909]uncertain significance63166950831669508Humanname
150557111CV1310447single nucleotide variantNM_001320.7(CSNK2B):c.332G>C (p.Arg111Pro)Poirier-Bienvenu neurodevelopmental syndrome [RCV001775375]|not provided [RCV004815630]pathogenic63166913731669137Human1name
151233345CV1317049single nucleotide variantNM_001320.7(CSNK2B):c.631G>A (p.Val211Ile)not provided [RCV001786870]uncertain significance63166990931669909Humanname
151349778CV1324476single nucleotide variantNM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg)Poirier-Bienvenu neurodevelopmental syndrome [RCV001808922]pathogenic|likely pathogenic63166983831669838Human1name
151714160CV1334517single nucleotide variantNM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp)Poirier-Bienvenu neurodevelopmental syndrome [RCV001842238]pathogenic|conflicting interpretations of pathogenicity63166941831669418Human1name
151750569CV1335564single nucleotide variantNM_001320.7(CSNK2B):c.474C>G (p.Tyr158Ter)not provided [RCV001847406]pathogenic63166942531669425Humanname
152154015CV1667804single nucleotide variantNM_001320.7(CSNK2B):c.374C>G (p.Ser125Ter)Poirier-Bienvenu neurodevelopmental syndrome [RCV002221700]pathogenic63166932531669325Human1name
152978339CV1671531single nucleotide variantNM_001320.7(CSNK2B):c.349C>T (p.Gln117Ter)Poirier-Bienvenu neurodevelopmental syndrome [RCV002227636]pathogenic63166915431669154Human1name
152980474CV1675977single nucleotide variantNM_001320.7(CSNK2B):c.304C>T (p.Gln102Ter)Poirier-Bienvenu neurodevelopmental syndrome [RCV002468656]|not provided [RCV002244566]pathogenic63166910931669109Human1name
153346877CV1694250single nucleotide variantNM_001320.7(CSNK2B):c.410G>A (p.Cys137Tyr)Neurodevelopmental disorder [RCV002277666]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004596533]pathogenic|likely pathogenic63166936131669361Human2name
155644506CV1708088single nucleotide variantNM_001320.7(CSNK2B):c.446C>G (p.Ser149Ter)Inborn genetic diseases [RCV003308101]|Poirier-Bienvenu neurodevelopmental syndrome [RCV002290076]pathogenic|likely pathogenic63166939731669397Human2name
155800049CV1862776single nucleotide variantNM_001320.7(CSNK2B):c.325T>C (p.Cys109Arg)Poirier-Bienvenu neurodevelopmental syndrome [RCV002472183]uncertain significance63166913031669130Human1name
155796560CV1862920single nucleotide variantNM_001320.7(CSNK2B):c.569T>C (p.Phe190Ser)Poirier-Bienvenu neurodevelopmental syndrome [RCV002470194]likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance63166984731669847Human1name
155800609CV1863732single nucleotide variantNM_001320.7(CSNK2B):c.365T>C (p.Ile122Thr)not provided [RCV002474155]uncertain significance63166917031669170Humanname
329848485CV2523253single nucleotide variantNM_001320.7(CSNK2B):c.310G>T (p.Gly104Ter)Poirier-Bienvenu neurodevelopmental syndrome [RCV003225013]pathogenic63166911531669115Human1name
329848131CV2667750single nucleotide variantNM_001320.7(CSNK2B):c.475T>G (p.Phe159Val)not provided [RCV003229317]uncertain significance63166942631669426Humanname
329953172CV2669884single nucleotide variantNM_001320.7(CSNK2B):c.307C>T (p.Gln103Ter)Poirier-Bienvenu neurodevelopmental syndrome [RCV004796791]|not provided [RCV003234508]pathogenic63166911231669112Human1name
401761021CV2706186single nucleotide variantNM_001320.7(CSNK2B):c.491C>T (p.Pro164Leu)Inborn genetic diseases [RCV003257416]uncertain significance63166944231669442Human1name
401827977CV2744348single nucleotide variantNM_001320.7(CSNK2B):c.368G>A (p.Gly123Asp)not provided [RCV003327745]pathogenic|likely pathogenic63166931931669319Humanname
401856218CV2752381single nucleotide variantNM_001320.7(CSNK2B):c.581C>T (p.Pro194Leu)Poirier-Bienvenu neurodevelopmental syndrome [RCV003340718]uncertain significance63166985931669859Human1name
401908167CV2801296single nucleotide variantNM_001320.7(CSNK2B):c.505A>G (p.Met169Val)CSNK2B-related disorder [RCV003397536]uncertain significance63166945631669456Humanname , trait , alternate_id
405270245CV3187660duplicationNM_001320.7(CSNK2B):c.59_62dup (p.Phe21fs)not provided [RCV003887744]pathogenic63166688931666890Humanname
407427968CV3412290single nucleotide variantNM_001320.7(CSNK2B):c.422T>C (p.Met141Thr)not provided [RCV004592461]uncertain significance63166937331669373Humanname
407429129CV3413516single nucleotide variantNM_001320.7(CSNK2B):c.408C>G (p.Tyr136Ter)Poirier-Bienvenu neurodevelopmental syndrome [RCV004594924]pathogenic63166935931669359Human1name
407429131CV3413518single nucleotide variantNM_001320.7(CSNK2B):c.463G>C (p.Asp155His)Poirier-Bienvenu neurodevelopmental syndrome [RCV004594926]uncertain significance63166941431669414Human1name
407574151CV3498500single nucleotide variantNM_001320.7(CSNK2B):c.517G>A (p.Glu173Lys)not specified [RCV004702975]uncertain significance63166946831669468Humanname
408377664CV3501617single nucleotide variantNM_001320.7(CSNK2B):c.409T>C (p.Cys137Arg)not provided [RCV004727676]pathogenic63166936031669360Humanname
408384198CV3520046single nucleotide variantNM_001320.7(CSNK2B):c.647G>C (p.Ter216Ser)not provided [RCV004759867]uncertain significance63166992531669925Humanname
596921613CV3535235single nucleotide variantNM_001320.7(CSNK2B):c.575T>G (p.Ile192Ser)not provided [RCV004784794]uncertain significance63166985331669853Humanname
596925474CV3542094single nucleotide variantNM_001320.7(CSNK2B):c.341G>A (p.Cys114Tyr)Poirier-Bienvenu neurodevelopmental syndrome [RCV004795810]|not provided [RCV005402189]uncertain significance63166914631669146Human1name
596940303CV3550875single nucleotide variantNM_001320.7(CSNK2B):c.332G>T (p.Arg111Leu)not provided [RCV004814775]likely pathogenic63166913731669137Humanname
597665145CV3654714indelNM_001320.7(CSNK2B):c.367+3_367+5delinsAAAInborn genetic diseases [RCV004979264]likely pathogenic63166917531669177Humanname
597714278CV3733096single nucleotide variantNM_001320.7(CSNK2B):c.475T>C (p.Phe159Leu)Poirier-Bienvenu neurodevelopmental syndrome [RCV005052285]uncertain significance63166942631669426Human1name
616940209CV4014718single nucleotide variantNM_001320.7(CSNK2B):c.326G>A (p.Cys109Tyr)not provided [RCV005414212]likely pathogenic63166913131669131Humanname
617151249CV4017800single nucleotide variantNM_001320.7(CSNK2B):c.323A>G (p.Tyr108Cys)Poirier-Bienvenu neurodevelopmental syndrome [RCV005417588]uncertain significance63166912831669128Human1name
21069232CV795816single nucleotide variantNM_001320.7(CSNK2B):c.318T>G (p.Phe106Leu)not provided [RCV000998553]uncertain significance63166912331669123Humanname
28877676CV859503single nucleotide variantNM_001320.7(CSNK2B):c.340T>C (p.Cys114Arg)not provided [RCV001090484]uncertain significance63166914531669145Humanname
38464876CV961649single nucleotide variantNM_001320.7(CSNK2B):c.303C>G (p.Tyr101Ter)Poirier-Bienvenu neurodevelopmental syndrome [RCV001249833]likely pathogenic63166910831669108Human1name
40815854CV970495single nucleotide variantNM_001320.7(CSNK2B):c.560T>C (p.Leu187Pro)Poirier-Bienvenu neurodevelopmental syndrome [RCV001261948]pathogenic63166983831669838Human1name
40886626CV973539single nucleotide variantNM_001320.7(CSNK2B):c.566G>T (p.Gly189Val)Inborn genetic diseases [RCV001265804]uncertain significance63166984431669844Human1name
42723660CV984575single nucleotide variantNM_001320.7(CSNK2B):c.494A>G (p.His165Arg)Poirier-Bienvenu neurodevelopmental syndrome [RCV002246284]|See cases [RCV001291643]|not provided [RCV004584874]pathogenic|likely pathogenic63166944531669445Human1name
150540752CV1298475microsatelliteNM_001320.7(CSNK2B):c.62TCT[1] (p.Phe22del)not provided [RCV001760623]uncertain significance63166689231666894Humanname
151663185CV1330985duplicationNM_001320.7(CSNK2B):c.583_586dup (p.Ala196fs)Poirier-Bienvenu neurodevelopmental syndrome [RCV001825158]likely pathogenic63166985931669860Human1name
153346848CV1694235microsatelliteNM_001320.7(CSNK2B):c.495_496del (p.Met166fs)Inborn genetic diseases [RCV003164406]|Neurodevelopmental disorder [RCV002277651]|Poirier-Bienvenu neurodevelopmental syndrome [RCV004770436]pathogenic|likely pathogenic63166944431669445Humanname
156258453CV2264958deletionNM_001320.7(CSNK2B):c.464_467del (p.Asp155fs)Inborn genetic diseases [RCV002831557]|not provided [RCV004786857]pathogenic63166941331669416Human1name
38598533CV964272duplicationNM_001320.7(CSNK2B):c.554_555dup (p.Arg186fs)Poirier-Bienvenu neurodevelopmental syndrome [RCV001253734]likely pathogenic|uncertain significance63166950331669504Human1name
598122469CV3889879insertionNM_001320.7(CSNK2B):c.342_343insTT (p.Glu115fs)Poirier-Bienvenu neurodevelopmental syndrome [RCV005247983]pathogenic63166914631669147Human1name
13475335CV443944deletionNM_001320.7(CSNK2B):c.27del (p.Ser8_Trp9insTer)not provided [RCV000519863]pathogenic63166685731666857Humanname
21068689CV794105insertionNM_001320.7(CSNK2B):c.533_534insGT (p.Pro179fs)Poirier-Bienvenu neurodevelopmental syndrome [RCV000993567]pathogenic63166948431669485Human1name
151713435CV1334526indelNM_001320.7(CSNK2B):c.467_468delinsTT (p.Gly156Val)Poirier-Bienvenu neurodevelopmental syndrome [RCV001842244]uncertain significance63166941831669419Humanname
596930116CV3531367indelNM_001320.7(CSNK2B):c.419_420delinsTA (p.Cys140Leu)not provided [RCV004779941]uncertain significance63166937031669371Humanname
596944615CV3543264indelNM_001320.7(CSNK2B):c.396_411delinsACTG (p.Met132_Cys137delinsIleLeu)Poirier-Bienvenu neurodevelopmental syndrome [RCV004799136]pathogenic63166934731669362Humanname