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Variants search result for Homo sapiens
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499 records found for search term Zbtb24
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
8568784CV40051single nucleotide variantZBTB24, SER16TERImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000024089]pathogenicHumanname
156435647CV2402762single nucleotide variantNM_014797.3(ZBTB24):c.953-2A>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003123568]pathogenic6109476932109476932Human1name
405201749CV3071269single nucleotide variantNM_014797.3(ZBTB24):c.953-4C>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003642280]likely benign6109476934109476934Human1name
15144753CV787310single nucleotide variantNM_014797.3(ZBTB24):c.952+9G>CImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000983546]likely benign6109481066109481066Human1name
38489999CV940023single nucleotide variantNM_014797.3(ZBTB24):c.952+6G>AImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001210454]uncertain significance6109481069109481069Human1name
151774358CV1440565single nucleotide variantNM_014797.3(ZBTB24):c.1204+4C>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001896650]uncertain significance6109476171109476171Human1name
152143907CV1596851single nucleotide variantNM_014797.3(ZBTB24):c.952+12T>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002157136]likely benign6109481063109481063Human1name
155798751CV1862138single nucleotide variantNM_014797.3(ZBTB24):c.1120+1G>AImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002471541]likely pathogenic6109476762109476762Human1name
156196459CV1900809duplicationNM_014797.3(ZBTB24):c.1121-6dupImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002574589]benign6109476263109476264Human1name
156370712CV1905312single nucleotide variantNM_014797.3(ZBTB24):c.1289-2A>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003092402]likely pathogenic6109467736109467736Human1name
156408925CV1922113single nucleotide variantNM_014797.3(ZBTB24):c.1204+1G>CImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002607398]likely pathogenic6109476174109476174Human1name
156391225CV2006197single nucleotide variantNM_014797.3(ZBTB24):c.1205-7C>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002654400]uncertain significance6109475489109475489Human1name
156168519CV2019871single nucleotide variantNM_014797.3(ZBTB24):c.1205-7C>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002710412]likely benign6109475489109475489Human1name
404996199CV2866499single nucleotide variantNM_014797.3(ZBTB24):c.1120+8G>CImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003525646]likely benign6109476755109476755Human1name
405004782CV2876170duplicationNM_014797.3(ZBTB24):c.1289-3dupImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526665]benign6109467736109467737Human1name
405008075CV2885408single nucleotide variantNM_014797.3(ZBTB24):c.953-19T>AImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526896]likely benign6109476949109476949Human1name
405010526CV2886755single nucleotide variantNM_014797.3(ZBTB24):c.953-20T>CImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527058]likely benign6109476950109476950Human1name
405195586CV2968499deletionNM_014797.3(ZBTB24):c.1289-3delImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641424]benign6109467737109467737Human1name
405196485CV2984793single nucleotide variantNM_014797.3(ZBTB24):c.952+17A>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641551]likely benign6109481058109481058Human1name
405197397CV2997781single nucleotide variantNM_014797.3(ZBTB24):c.1204+1G>AImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641685]likely pathogenic6109476174109476174Human1name
405197902CV3002361single nucleotide variantNM_014797.3(ZBTB24):c.953-19T>CImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641760]likely benign6109476949109476949Human1name
405190336CV3042226single nucleotide variantNM_014797.3(ZBTB24):c.1121-2A>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640765]likely pathogenic6109476260109476260Human1name
405192749CV3043712single nucleotide variantNM_014797.3(ZBTB24):c.1371-7C>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640840]likely benign6109466581109466581Human1name
405190813CV3046528single nucleotide variantNM_014797.3(ZBTB24):c.952+14C>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640816]likely benign6109481061109481061Human1name
405200048CV3057483duplicationNM_014797.3(ZBTB24):c.1371-4dupImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003642050]likely benign6109466577109466578Human1name
405200458CV3064931single nucleotide variantNM_014797.3(ZBTB24):c.953-13G>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003642100]likely benign6109476943109476943Human1name
597737750CV3728322single nucleotide variantNM_014797.3(ZBTB24):c.1289-2A>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005037813]likely pathogenic6109467736109467736Human1name
597868209CV3803295deletionNM_014797.3(ZBTB24):c.1121-6delImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005147892]benign6109476264109476264Human1name
13622082CV521288single nucleotide variantNM_014797.3(ZBTB24):c.1204+5G>AImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649291]|ZBTB24-related disorder [RCV003945646]benign6109476170109476170Human1name , trait , alternate_id
15114710CV775140single nucleotide variantNM_014797.3(ZBTB24):c.1121-9T>CImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002545910]likely benign6109476267109476267Human1name
15118112CV787541single nucleotide variantNM_014797.3(ZBTB24):c.1205-6G>AImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001505082]likely benign6109475488109475488Human1name
41405370CV981513single nucleotide variantNM_014797.3(ZBTB24):c.953-20T>AImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001286103]benign6109476950109476950Human1name
152112207CV1539220single nucleotide variantNM_014797.3(ZBTB24):c.1370+18T>CImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002080405]likely benign6109467635109467635Human1name
152136706CV1560714duplicationNM_014797.3(ZBTB24):c.1205-14dupImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002137633]likely benign6109475495109475496Human1name
152153424CV1592059single nucleotide variantNM_014797.3(ZBTB24):c.1371-16G>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002102580]likely benign6109466590109466590Human1name
152160461CV1642490single nucleotide variantNM_014797.3(ZBTB24):c.1370+15A>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002103700]benign|likely benign6109467638109467638Human1name
156041625CV1926891single nucleotide variantNM_014797.3(ZBTB24):c.1370+17A>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002637598]likely benign6109467636109467636Human1name
155912380CV2011050single nucleotide variantNM_014797.3(ZBTB24):c.1370+11G>AImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002681815]likely benign6109467642109467642Human1name
404997251CV2878299single nucleotide variantNM_014797.3(ZBTB24):c.1288+18C>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003525749]likely benign6109475381109475381Human1name
405007522CV2880973single nucleotide variantNM_014797.3(ZBTB24):c.1204+12T>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526788]likely benign6109476163109476163Human1name
405007430CV2884119single nucleotide variantNM_014797.3(ZBTB24):c.1288+16G>AImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526773]likely benign6109475383109475383Human1name
405014656CV2912153duplicationNM_014797.3(ZBTB24):c.1205-15dupImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527503]benign6109475496109475497Human1name
405193528CV2938046single nucleotide variantNM_014797.3(ZBTB24):c.1120+20G>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641163]likely benign6109476743109476743Human1name
405194060CV2953018single nucleotide variantNM_014797.3(ZBTB24):c.1289-11G>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641227]|not provided [RCV004707833]likely benign6109467745109467745Human1name
405194652CV2955558single nucleotide variantNM_014797.3(ZBTB24):c.1120+18G>AImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641296]likely benign6109476745109476745Human1name
405194378CV2961174single nucleotide variantNM_014797.3(ZBTB24):c.1205-14A>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641264]likely benign6109475496109475496Human1name
405196634CV2985563single nucleotide variantNM_014797.3(ZBTB24):c.1288+16G>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641572]likely benign6109475383109475383Human1name
405196861CV2986148single nucleotide variantNM_014797.3(ZBTB24):c.1289-13T>AImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641604]likely benign6109467747109467747Human1name
405197628CV2991325single nucleotide variantNM_014797.3(ZBTB24):c.1288+18C>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641719]likely benign6109475381109475381Human1name
405189228CV3026384single nucleotide variantNM_014797.3(ZBTB24):c.1120+18G>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640609]likely benign6109476745109476745Human1name
405188861CV3028875deletionNM_014797.3(ZBTB24):c.1121-15delImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640566]benign6109476273109476273Human1name
405192715CV3050006single nucleotide variantNM_014797.3(ZBTB24):c.1289-17G>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640809]|not provided [RCV004704915]likely benign6109467751109467751Human1name
405201674CV3069495single nucleotide variantNM_014797.3(ZBTB24):c.1288+20G>AImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003642144]likely benign6109475379109475379Human1name
405093657CV3118843single nucleotide variantNM_014797.3(ZBTB24):c.1288+20G>CImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003811294]likely benign6109475379109475379Human1name
405162054CV3125102single nucleotide variantNM_014797.3(ZBTB24):c.1288+11A>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003818373]likely benign6109475388109475388Human1name
405057426CV3147711single nucleotide variantNM_014797.3(ZBTB24):c.1288+10C>GImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003849941]likely benign6109475389109475389Human1name
405184414CV3156017single nucleotide variantNM_014797.3(ZBTB24):c.1121-13G>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003859091]likely benign6109476271109476271Human1name
405001487CV3183983single nucleotide variantNM_014797.3(ZBTB24):c.1288+15C>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003882566]likely benign6109475384109475384Human1name
597946527CV3774896single nucleotide variantNM_014797.3(ZBTB24):c.1120+14C>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005119993]likely benign6109476749109476749Human1name
597913252CV3806632single nucleotide variantNM_014797.3(ZBTB24):c.1204+18C>TImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005154199]likely benign6109476157109476157Human1name
597912674CV3850610single nucleotide variantNM_014797.3(ZBTB24):c.1121-16T>CImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005203758]likely benign6109476274109476274Human1name
21406053CV799433microsatelliteNM_014797.3(ZBTB24):c.952+56ATA[2]Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001001833]benign6109481011109481013Humanname
405005876CV2880737deletionNM_014797.3(ZBTB24):c.437_952+408delImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526783]likely pathogenic6109480667109481590Human1name
405193230CV2943893microsatelliteNM_014797.3(ZBTB24):c.953-6_953-4delImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641132]likely benign6109476934109476936Humanname
597682410CV3728321deletionNM_014797.3(ZBTB24):c.1371-3_1371delImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005045533]likely pathogenic6109466574109466577Human1name
127311870CV1137220single nucleotide variantNM_014797.3(ZBTB24):c.15G>T (p.Ser5=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001481558]likely benign6109482012109482012Human1name
405012521CV2900554single nucleotide variantNM_014797.3(ZBTB24):c.15G>A (p.Ser5=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527400]likely benign6109482012109482012Human1name
405002645CV2925950single nucleotide variantNM_014797.3(ZBTB24):c.21G>A (p.Glu7=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526473]likely benign6109482006109482006Human1name
127244375CV1073141single nucleotide variantNM_014797.3(ZBTB24):c.69G>A (p.Val23=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001416329]|not provided [RCV004584901]likely benign6109481958109481958Human1name
127299337CV1116254single nucleotide variantNM_014797.3(ZBTB24):c.39T>C (p.Val13=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001478144]likely benign6109481988109481988Human1name
152159251CV1597039microsatelliteNM_014797.3(ZBTB24):c.1289-23GTTTTT[4]Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002159340]likely benign6109467739109467740Humanname
156121359CV2077764single nucleotide variantNM_014797.3(ZBTB24):c.42A>G (p.Val14=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002871276]likely benign6109481985109481985Human1name
155981452CV2140478single nucleotide variantNM_014797.3(ZBTB24):c.4G>T (p.Ala2Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002996122]|Inborn genetic diseases [RCV002996121]uncertain significance6109482023109482023Human2name
405197332CV2990334single nucleotide variantNM_014797.3(ZBTB24):c.48A>C (p.Ser16=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641676]likely benign6109481979109481979Human1name
405198963CV3054851single nucleotide variantNM_014797.3(ZBTB24):c.54T>C (p.Ala18=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641913]likely benign6109481973109481973Human1name
405112670CV3118642single nucleotide variantNM_014797.3(ZBTB24):c.66T>A (p.Thr22=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003813870]likely benign6109481961109481961Human1name
597932020CV3742600single nucleotide variantNM_014797.3(ZBTB24):c.45C>T (p.His15=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005076039]likely benign6109481982109481982Human1name
13622083CV521560microsatelliteNM_014797.3(ZBTB24):c.1289-23GTTTTT[2]Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649292]|ZBTB24-related disorder [RCV003937955]likely benign6109467740109467745Humanname , trait , alternate_id
13622079CV521658single nucleotide variantNM_014797.3(ZBTB24):c.51C>T (p.Asp17=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649288]likely benign6109481976109481976Human1name
15158263CV749738single nucleotide variantNM_014797.3(ZBTB24):c.99A>G (p.Lys33=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001480951]likely benign6109481928109481928Human1name
15099506CV765426single nucleotide variantNM_014797.3(ZBTB24):c.93G>A (p.Arg31=)not provided [RCV000936491]likely benign6109481934109481934Humanname
126920865CV1043871single nucleotide variantNM_014797.3(ZBTB24):c.11C>T (p.Thr4Ile)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001374061]uncertain significance6109482016109482016Human1name
127253809CV1073140single nucleotide variantNM_014797.3(ZBTB24):c.171C>T (p.Ala57=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001418400]likely benign6109481856109481856Human1name
127275511CV1094722single nucleotide variantNM_014797.3(ZBTB24):c.222A>G (p.Gln74=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001432403]likely benign6109481805109481805Human1name
127297554CV1155260single nucleotide variantNM_014797.3(ZBTB24):c.268C>T (p.Leu90=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001512920]|ZBTB24-related disorder [RCV003921094]benign|likely benign6109481759109481759Human1name , trait , alternate_id
156215272CV1869266single nucleotide variantNM_014797.3(ZBTB24):c.189A>G (p.Ser63=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003058697]likely benign6109481838109481838Human1name
156228048CV1896524single nucleotide variantNM_014797.3(ZBTB24):c.22C>G (p.Pro8Ala)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003085253]uncertain significance6109482005109482005Human1name
156130960CV2116844single nucleotide variantNM_014797.3(ZBTB24):c.153C>T (p.His51=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002928196]likely benign6109481874109481874Human1name
405008184CV2892586single nucleotide variantNM_014797.3(ZBTB24):c.171C>A (p.Ala57=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526936]likely benign6109481856109481856Human1name
405011041CV2901684single nucleotide variantNM_014797.3(ZBTB24):c.120T>C (p.Thr40=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527233]likely benign6109481907109481907Human1name
405001886CV2911409single nucleotide variantNM_014797.3(ZBTB24):c.294T>C (p.Tyr98=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526400]likely benign6109481733109481733Human1name
405195999CV2969361single nucleotide variantNM_014797.3(ZBTB24):c.171C>G (p.Ala57=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641479]likely benign6109481856109481856Human1name
405187998CV3016888single nucleotide variantNM_014797.3(ZBTB24):c.201A>G (p.Ala67=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640464]likely benign6109481826109481826Human1name
405189744CV3021169single nucleotide variantNM_014797.3(ZBTB24):c.105C>T (p.Phe35=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640671]likely benign6109481922109481922Human1name
405189564CV3027374single nucleotide variantNM_014797.3(ZBTB24):c.183C>T (p.Tyr61=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640648]likely benign6109481844109481844Human1name
405190100CV3032269single nucleotide variantNM_014797.3(ZBTB24):c.120T>G (p.Thr40=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640715]likely benign6109481907109481907Human1name
405199621CV3059830single nucleotide variantNM_014797.3(ZBTB24):c.210G>T (p.Gly70=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641999]likely benign6109481817109481817Human1name
404980663CV3121040single nucleotide variantNM_014797.3(ZBTB24):c.129G>A (p.Val43=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003826032]likely benign6109481898109481898Human1name
402525135CV3175957single nucleotide variantNM_014797.3(ZBTB24):c.207G>A (p.Glu69=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003880057]likely benign6109481820109481820Human1name
405259839CV3186442single nucleotide variantNM_014797.3(ZBTB24):c.213A>G (p.Glu71=)not provided [RCV003884201]likely benign6109481814109481814Humanname
405803483CV3356831single nucleotide variantNM_014797.3(ZBTB24):c.17C>A (p.Pro6Gln)Inborn genetic diseases [RCV004478833]uncertain significance6109482010109482010Human1name
597837560CV3740219single nucleotide variantNM_014797.3(ZBTB24):c.126C>T (p.Ile42=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005064247]likely benign6109481901109481901Human1name
597891396CV3762997single nucleotide variantNM_014797.3(ZBTB24):c.150C>G (p.Ala50=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005110770]likely benign6109481877109481877Human1name
597946735CV3790522deletionNM_014797.3(ZBTB24):c.85del (p.Asp29fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005134930]pathogenic6109481942109481942Human1name
13488225CV455141single nucleotide variantNM_014797.3(ZBTB24):c.14C>T (p.Ser5Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000554694]|not provided [RCV003884630]benign|likely benign6109482013109482013Human1name
13622078CV521290single nucleotide variantNM_014797.3(ZBTB24):c.135T>C (p.Asn45=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649287]likely benign6109481892109481892Human1name
13622081CV521656single nucleotide variantNM_014797.3(ZBTB24):c.235C>T (p.Leu79=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649290]likely benign6109481792109481792Human1name
15163132CV749737single nucleotide variantNM_014797.3(ZBTB24):c.225C>T (p.Ser75=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000926051]likely benign6109481802109481802Human1name
127301308CV1116252single nucleotide variantNM_014797.3(ZBTB24):c.978G>A (p.Glu326=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001461366]likely benign6109476905109476905Human1name
127290728CV1116253single nucleotide variantNM_014797.3(ZBTB24):c.540A>G (p.Ala180=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001475852]likely benign6109481487109481487Human1name
127322078CV1137218single nucleotide variantNM_014797.3(ZBTB24):c.630A>G (p.Gln210=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001504970]likely benign6109481397109481397Human1name
127301734CV1137219single nucleotide variantNM_014797.3(ZBTB24):c.387A>G (p.Gln129=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001478785]likely benign6109481640109481640Human1name
152063595CV1535637single nucleotide variantNM_014797.3(ZBTB24):c.846C>T (p.Ile282=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002168313]likely benign6109481181109481181Human1name
152149818CV1555766single nucleotide variantNM_014797.3(ZBTB24):c.561A>G (p.Arg187=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002179273]likely benign6109481466109481466Human1name
152123755CV1587301single nucleotide variantNM_014797.3(ZBTB24):c.627G>A (p.Glu209=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002136047]likely benign6109481400109481400Human1name
152102945CV1606005single nucleotide variantNM_014797.3(ZBTB24):c.444T>G (p.Val148=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002095767]likely benign6109481583109481583Human1name
152161205CV1606120single nucleotide variantNM_014797.3(ZBTB24):c.894C>T (p.Asp298=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002180964]likely benign6109481133109481133Human1name
152147023CV1615535single nucleotide variantNM_014797.3(ZBTB24):c.378A>G (p.Thr126=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002101634]likely benign6109481649109481649Human1name
152174159CV1622132single nucleotide variantNM_014797.3(ZBTB24):c.879G>A (p.Glu293=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002184414]likely benign6109481148109481148Human1name
152119585CV1654684single nucleotide variantNM_014797.3(ZBTB24):c.678T>C (p.Ser226=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002216597]likely benign6109481349109481349Human1name
152137556CV1665053deletionNM_014797.3(ZBTB24):c.1121-14_1121-12delImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002119912]likely benign6109476270109476272Human1name
156373550CV1901918single nucleotide variantNM_014797.3(ZBTB24):c.381C>T (p.Asp127=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003092667]likely benign6109481646109481646Human1name
156359985CV1904304single nucleotide variantNM_014797.3(ZBTB24):c.477G>A (p.Lys159=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002581658]likely benign6109481550109481550Human1name
156044415CV1999175single nucleotide variantNM_014797.3(ZBTB24):c.639A>G (p.Ala213=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002659158]likely benign6109481388109481388Human1name
156181806CV2058683single nucleotide variantNM_014797.3(ZBTB24):c.633T>C (p.Ile211=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002828327]likely benign6109481394109481394Human1name
155972930CV2079327single nucleotide variantNM_014797.3(ZBTB24):c.867T>C (p.Pro289=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002881570]likely benign6109481160109481160Human1name
156246341CV2105656single nucleotide variantNM_014797.3(ZBTB24):c.930A>G (p.Ala310=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002933385]likely benign6109481097109481097Human1name
155967748CV2142654deletionNM_014797.3(ZBTB24):c.1289-32_1289-19delImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002995473]likely benign6109467753109467766Human1name
156345973CV2172612single nucleotide variantNM_014797.3(ZBTB24):c.354C>T (p.Val118=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003030561]likely benign6109481673109481673Human1name
156076150CV2173505single nucleotide variantNM_014797.3(ZBTB24):c.423C>T (p.Asn141=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003053871]likely benign6109481604109481604Human1name
404995742CV2862884single nucleotide variantNM_014797.3(ZBTB24):c.556T>C (p.Leu186=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003525626]likely benign6109481471109481471Human1name
404999315CV2875372single nucleotide variantNM_014797.3(ZBTB24):c.441G>T (p.Val147=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003525793]likely benign6109481586109481586Human1name
405013319CV2897704single nucleotide variantNM_014797.3(ZBTB24):c.336T>C (p.Thr112=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527477]likely benign6109481691109481691Human1name
405012532CV2900568single nucleotide variantNM_014797.3(ZBTB24):c.744A>G (p.Ala248=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527401]likely benign6109481283109481283Human1name
405012970CV2901146single nucleotide variantNM_014797.3(ZBTB24):c.666T>A (p.Thr222=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527444]likely benign6109481361109481361Human1name
405014241CV2915839single nucleotide variantNM_014797.3(ZBTB24):c.684G>A (p.Glu228=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527564]likely benign6109481343109481343Human1name
405003103CV2922848single nucleotide variantNM_014797.3(ZBTB24):c.621G>C (p.Leu207=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526518]likely benign6109481406109481406Human1name
405003143CV2923052single nucleotide variantNM_014797.3(ZBTB24):c.594T>C (p.Phe198=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526522]likely benign6109481433109481433Human1name
405004089CV2927715single nucleotide variantNM_014797.3(ZBTB24):c.546A>G (p.Glu182=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526607]likely benign6109481481109481481Human1name
405003322CV2929479single nucleotide variantNM_014797.3(ZBTB24):c.624T>C (p.Asn208=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526539]likely benign6109481403109481403Human1name
405194130CV2960022single nucleotide variantNM_014797.3(ZBTB24):c.489A>G (p.Gly163=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641235]likely benign6109481538109481538Human1name
405194977CV2963054single nucleotide variantNM_014797.3(ZBTB24):c.756A>G (p.Arg252=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641337]likely benign6109481271109481271Human1name
405196972CV2989506single nucleotide variantNM_014797.3(ZBTB24):c.843G>A (p.Arg281=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641621]likely benign6109481184109481184Human1name
405197449CV2990758single nucleotide variantNM_014797.3(ZBTB24):c.426T>G (p.Thr142=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641692]likely benign6109481601109481601Human1name
405197909CV3002370single nucleotide variantNM_014797.3(ZBTB24):c.432T>C (p.Gly144=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641761]likely benign6109481595109481595Human1name
405187594CV3005661single nucleotide variantNM_014797.3(ZBTB24):c.915C>T (p.Tyr305=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640417]likely benign6109481112109481112Human1name
405189941CV3040230single nucleotide variantNM_014797.3(ZBTB24):c.771G>A (p.Arg257=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640696]likely benign6109481256109481256Human1name
405191146CV3050628deletionNM_014797.3(ZBTB24):c.1289-17_1289-14delImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640853]likely benign6109467748109467751Human1name
405199642CV3059917single nucleotide variantNM_014797.3(ZBTB24):c.729C>T (p.Thr243=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003642002]likely benign6109481298109481298Human1name
405200812CV3069940single nucleotide variantNM_014797.3(ZBTB24):c.345C>T (p.Phe115=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003642167]likely benign6109481682109481682Human1name
405141071CV3131137single nucleotide variantNM_014797.3(ZBTB24):c.462A>G (p.Lys154=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003839177]likely benign6109481565109481565Human1name
404989866CV3131945single nucleotide variantNM_014797.3(ZBTB24):c.819A>G (p.Gln273=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003827073]likely benign6109481208109481208Human1name
405154591CV3135194single nucleotide variantNM_014797.3(ZBTB24):c.948C>T (p.His316=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003840306]likely benign6109481079109481079Human1name
405195182CV3146479single nucleotide variantNM_014797.3(ZBTB24):c.769A>C (p.Arg257=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003843834]likely benign6109481258109481258Human1name
405185078CV3155951single nucleotide variantNM_014797.3(ZBTB24):c.936C>T (p.His312=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003859025]likely benign6109481091109481091Human1name
405165102CV3160473deletionNM_014797.3(ZBTB24):c.1289-23_1289-20delImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003857353]likely benign6109467754109467757Human1name
405246149CV3162235single nucleotide variantNM_014797.3(ZBTB24):c.975T>C (p.Asn325=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003868754]likely benign6109476908109476908Human1name
402471938CV3171531single nucleotide variantNM_014797.3(ZBTB24):c.618A>T (p.Val206=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003874315]likely benign6109481409109481409Human1name
405228193CV3180329single nucleotide variantNM_014797.3(ZBTB24):c.645A>G (p.Glu215=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003864749]likely benign6109481382109481382Human1name
402490165CV3182374single nucleotide variantNM_014797.3(ZBTB24):c.384C>T (p.Phe128=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003876860]likely benign6109481643109481643Human1name
597856951CV3769424single nucleotide variantNM_014797.3(ZBTB24):c.330G>T (p.Leu110=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005105465]likely benign6109481697109481697Human1name
597879338CV3776190single nucleotide variantNM_014797.3(ZBTB24):c.363G>A (p.Leu121=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005123718]likely benign6109481664109481664Human1name
597878198CV3776256single nucleotide variantNM_014797.3(ZBTB24):c.705A>G (p.Lys235=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005123784]likely benign6109481322109481322Human1name
597885048CV3780684single nucleotide variantNM_014797.3(ZBTB24):c.510A>C (p.Thr170=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005124812]likely benign6109481517109481517Human1name
597926101CV3783256single nucleotide variantNM_014797.3(ZBTB24):c.414A>G (p.Thr138=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005115942]likely benign6109481613109481613Human1name
597846218CV3827939single nucleotide variantNM_014797.3(ZBTB24):c.588A>G (p.Gln196=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005173014]likely benign6109481439109481439Human1name
597863962CV3860801single nucleotide variantNM_014797.3(ZBTB24):c.597G>T (p.Val199=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005196329]likely benign6109481430109481430Human1name
13493331CV456004single nucleotide variantNM_014797.3(ZBTB24):c.579G>A (p.Gln193=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000535606]benign6109481448109481448Human1name
13838301CV589602single nucleotide variantNM_014797.3(ZBTB24):c.47C>G (p.Ser16Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000024089]|not provided [RCV000734958]pathogenic6109481980109481980Human1name
14725625CV634473single nucleotide variantNM_014797.3(ZBTB24):c.762C>T (p.Ser254=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000798899]likely benign|uncertain significance6109481265109481265Human1name
15098532CV699246single nucleotide variantNM_014797.3(ZBTB24):c.619C>T (p.Leu207=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000958582]likely benign6109481408109481408Human1name
15142321CV710116single nucleotide variantNM_014797.3(ZBTB24):c.996C>T (p.Ala332=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000966467]likely benign6109476887109476887Human1name
15108804CV710117single nucleotide variantNM_014797.3(ZBTB24):c.783C>T (p.Ser261=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000960563]|not provided [RCV004721690]benign|likely benign6109481244109481244Human1name
15137616CV735333single nucleotide variantNM_014797.3(ZBTB24):c.855G>A (p.Arg285=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001433210]likely benign6109481172109481172Human1name
15174805CV735334single nucleotide variantNM_014797.3(ZBTB24):c.360C>T (p.Asp120=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002065737]likely benign6109481667109481667Human1name
15202743CV765424single nucleotide variantNM_014797.3(ZBTB24):c.858A>G (p.Arg286=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000936050]likely benign6109481169109481169Human1name
15191357CV765425single nucleotide variantNM_014797.3(ZBTB24):c.657G>A (p.Ser219=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000932778]likely benign6109481370109481370Human1name
26887153CV831382single nucleotide variantNM_014797.3(ZBTB24):c.99A>T (p.Lys33Asn)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001044693]uncertain significance6109481928109481928Human1name
38457900CV944845single nucleotide variantNM_014797.3(ZBTB24):c.85G>A (p.Asp29Asn)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001228753]uncertain significance6109481942109481942Human1name
126747195CV1006380single nucleotide variantNM_014797.3(ZBTB24):c.1893A>G (p.Gln631=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001315314]likely benign|uncertain significance6109466052109466052Human1name
127234776CV1073139single nucleotide variantNM_014797.3(ZBTB24):c.1836G>A (p.Glu612=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001414266]likely benign6109466109109466109Human1name
127254504CV1094721single nucleotide variantNM_014797.3(ZBTB24):c.1788G>A (p.Thr596=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001437260]likely benign6109466157109466157Human1name
127329799CV1116250single nucleotide variantNM_014797.3(ZBTB24):c.1953T>C (p.His651=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001470429]likely benign6109465992109465992Human1name
127304312CV1116251single nucleotide variantNM_014797.3(ZBTB24):c.1263A>G (p.Leu421=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001454939]likely benign6109475424109475424Human1name
127319412CV1137216single nucleotide variantNM_014797.3(ZBTB24):c.2037G>A (p.Pro679=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001483861]likely benign6109465908109465908Human1name
127315621CV1137217single nucleotide variantNM_014797.3(ZBTB24):c.1020C>T (p.His340=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001482567]likely benign6109476863109476863Human1name
151743011CV1405127single nucleotide variantNM_014797.3(ZBTB24):c.1146A>G (p.Gln382=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001947286]likely benign|uncertain significance6109476233109476233Human1name
151893048CV1411866single nucleotide variantNM_014797.3(ZBTB24):c.140A>G (p.His47Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001944717]uncertain significance6109481887109481887Human1name
151780581CV1426442single nucleotide variantNM_014797.3(ZBTB24):c.134A>G (p.Asn45Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002009705]uncertain significance6109481893109481893Human1name
151728474CV1517527duplicationNM_014797.3(ZBTB24):c.501dup (p.Val168fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002052143]pathogenic6109481525109481526Human1name
152035465CV1545738single nucleotide variantNM_014797.3(ZBTB24):c.1128G>A (p.Lys376=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002164866]likely benign6109476251109476251Human1name
152056670CV1545834single nucleotide variantNM_014797.3(ZBTB24):c.2055C>T (p.His685=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002179650]|ZBTB24-related disorder [RCV003893123]likely benign6109465890109465890Human1name , trait , alternate_id
152064057CV1554565single nucleotide variantNM_014797.3(ZBTB24):c.1746A>G (p.Gln582=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002190898]benign6109466199109466199Human1name
152071081CV1591509single nucleotide variantNM_014797.3(ZBTB24):c.1350G>A (p.Gln450=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002209986]likely benign6109467673109467673Human1name
152170055CV1592238single nucleotide variantNM_014797.3(ZBTB24):c.1683T>C (p.His561=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002161642]likely benign6109466262109466262Human1name
152073195CV1598805single nucleotide variantNM_014797.3(ZBTB24):c.1008G>A (p.Ser336=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002148363]likely benign6109476875109476875Human1name
152046069CV1600263single nucleotide variantNM_014797.3(ZBTB24):c.1722C>T (p.Ser574=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002088560]likely benign6109466223109466223Human1name
152147340CV1615642single nucleotide variantNM_014797.3(ZBTB24):c.1179A>G (p.Leu393=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002101681]likely benign6109476200109476200Human1name
152040634CV1624756single nucleotide variantNM_014797.3(ZBTB24):c.1209C>T (p.His403=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002165636]likely benign6109475478109475478Human1name
152118509CV1659037single nucleotide variantNM_014797.3(ZBTB24):c.1884G>A (p.Gly628=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002175252]likely benign6109466061109466061Human1name
156383206CV1870530single nucleotide variantNM_014797.3(ZBTB24):c.1956A>G (p.Gln652=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003067348]likely benign6109465989109465989Human1name
156287023CV1884899single nucleotide variantNM_014797.3(ZBTB24):c.1908C>T (p.His636=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003061288]likely benign6109466037109466037Human1name
156196482CV1900810single nucleotide variantNM_014797.3(ZBTB24):c.158C>T (p.Ala53Val)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002574590]uncertain significance6109481869109481869Human1name
156032024CV1910880single nucleotide variantNM_014797.3(ZBTB24):c.1443C>T (p.Cys481=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002619893]likely benign6109466502109466502Human1name
156417126CV1919472single nucleotide variantNM_014797.3(ZBTB24):c.1269A>G (p.Lys423=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002610547]likely benign6109475418109475418Human1name
156093583CV2014184single nucleotide variantNM_014797.3(ZBTB24):c.1093C>T (p.Leu365=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002695032]likely benign6109476790109476790Human1name
156229940CV2019664single nucleotide variantNM_014797.3(ZBTB24):c.1335A>C (p.Ala445=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002701319]likely benign6109467688109467688Human1name
156023808CV2043339single nucleotide variantNM_014797.3(ZBTB24):c.1986A>G (p.Thr662=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002780788]likely benign6109465959109465959Human1name
155967997CV2082891single nucleotide variantNM_014797.3(ZBTB24):c.1098G>A (p.Leu366=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002881349]likely benign6109476785109476785Human1name
156227222CV2088834deletionNM_014797.3(ZBTB24):c.389del (p.Asn130fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002876099]pathogenic6109481638109481638Human1name
156382640CV2118150single nucleotide variantNM_014797.3(ZBTB24):c.1218G>A (p.Pro406=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002943259]likely benign6109475469109475469Human1name
156376937CV2124229single nucleotide variantNM_014797.3(ZBTB24):c.2052C>T (p.His684=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002942804]likely benign6109465893109465893Human1name
155906270CV2130790single nucleotide variantNM_014797.3(ZBTB24):c.1518G>A (p.Lys506=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002967730]likely benign6109466427109466427Human1name
156140666CV2137835single nucleotide variantNM_014797.3(ZBTB24):c.251C>G (p.Ala84Gly)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002982302]uncertain significance6109481776109481776Human1name
156109064CV2140056single nucleotide variantNM_014797.3(ZBTB24):c.103T>A (p.Phe35Ile)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003002514]uncertain significance6109481924109481924Human1name
155950782CV2159072single nucleotide variantNM_014797.3(ZBTB24):c.1083C>G (p.Thr361=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003014839]likely benign6109476800109476800Human1name
155992948CV2171341single nucleotide variantNM_014797.3(ZBTB24):c.1755T>G (p.Thr585=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003034412]likely benign6109466190109466190Human1name
156241244CV2177139single nucleotide variantNM_014797.3(ZBTB24):c.135T>G (p.Asn45Lys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003043450]uncertain significance6109481892109481892Human1name
156154722CV2209555single nucleotide variantNM_014797.3(ZBTB24):c.184T>G (p.Phe62Val)Inborn genetic diseases [RCV002697871]uncertain significance6109481843109481843Human1name
156251589CV2311305single nucleotide variantNM_014797.3(ZBTB24):c.233T>C (p.Met78Thr)Inborn genetic diseases [RCV002919954]uncertain significance6109481794109481794Human1name
156050813CV2323305single nucleotide variantNM_014797.3(ZBTB24):c.209G>A (p.Gly70Glu)Inborn genetic diseases [RCV002924454]uncertain significance6109481818109481818Human1name
11525797CV246995single nucleotide variantNM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649294]|Kabuki syndrome 1 [RCV000578131]|not provided [RCV002292496]|not specified [RCV000238885]benign|likely benign|uncertain significance6109481881109481881Human2name
404995112CV2861994single nucleotide variantNM_014797.3(ZBTB24):c.1488C>T (p.Asn496=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003525563]likely benign6109466457109466457Human1name
405004936CV2872881single nucleotide variantNM_014797.3(ZBTB24):c.1812T>C (p.Asn604=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526677]likely benign6109466133109466133Human1name
402490884CV2877535single nucleotide variantNM_014797.3(ZBTB24):c.2058G>A (p.Val686=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003525686]likely benign6109465887109465887Human1name
405008481CV2882816single nucleotide variantNM_014797.3(ZBTB24):c.1707T>C (p.Pro569=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527017]likely benign6109466238109466238Human1name
405007642CV2889047single nucleotide variantNM_014797.3(ZBTB24):c.1413C>T (p.Phe471=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526946]likely benign6109466532109466532Human1name
405006389CV2891391single nucleotide variantNM_014797.3(ZBTB24):c.1974C>T (p.Leu658=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526829]likely benign6109465971109465971Human1name
405006911CV2892201single nucleotide variantNM_014797.3(ZBTB24):c.1473C>T (p.Ser491=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526879]likely benign6109466472109466472Human1name
405008340CV2893014single nucleotide variantNM_014797.3(ZBTB24):c.1110C>T (p.Ser370=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526982]likely benign6109476773109476773Human1name
405010201CV2898064single nucleotide variantNM_014797.3(ZBTB24):c.1065C>T (p.Cys355=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527175]likely benign6109476818109476818Human1name
405012564CV2900752single nucleotide variantNM_014797.3(ZBTB24):c.1056C>T (p.Cys352=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527404]likely benign6109476827109476827Human1name
405013525CV2904578single nucleotide variantNM_014797.3(ZBTB24):c.1254G>A (p.Val418=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527496]likely benign6109475433109475433Human1name
405001214CV2910704single nucleotide variantNM_014797.3(ZBTB24):c.1482G>A (p.Glu494=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526328]likely benign6109466463109466463Human1name
405014855CV2916007single nucleotide variantNM_014797.3(ZBTB24):c.1470C>T (p.Phe490=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527600]likely benign6109466475109466475Human1name
405004220CV2924401single nucleotide variantNM_014797.3(ZBTB24):c.1230C>T (p.Asp410=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526618]likely benign6109475457109475457Human1name
405193583CV2948106single nucleotide variantNM_014797.3(ZBTB24):c.1830A>G (p.Gln610=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641170]likely benign6109466115109466115Human1name
405194349CV2960921deletionNM_014797.3(ZBTB24):c.993del (p.Phe331fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641261]pathogenic6109476890109476890Human1name
405194459CV2961252single nucleotide variantNM_014797.3(ZBTB24):c.1296G>A (p.Lys432=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641274]likely benign6109467727109467727Human1name
405195091CV2963696single nucleotide variantNM_014797.3(ZBTB24):c.1395C>T (p.Gly465=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641353]likely benign6109466550109466550Human1name
405195027CV2966944single nucleotide variantNM_014797.3(ZBTB24):c.1923C>T (p.Ser641=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641344]likely benign6109466022109466022Human1name
405196783CV2982547single nucleotide variantNM_014797.3(ZBTB24):c.1767T>C (p.Ala589=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641592]likely benign6109466178109466178Human1name
405196474CV2988135single nucleotide variantNM_014797.3(ZBTB24):c.1023C>A (p.Thr341=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641549]likely benign6109476860109476860Human1name
405196834CV2989258single nucleotide variantNM_014797.3(ZBTB24):c.1338G>A (p.Lys446=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641600]likely benign6109467685109467685Human1name
405197784CV2991968single nucleotide variantNM_014797.3(ZBTB24):c.1261C>T (p.Leu421=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641742]likely benign6109475426109475426Human1name
405197502CV3001049single nucleotide variantNM_014797.3(ZBTB24):c.1785C>A (p.Leu595=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641699]likely benign6109466160109466160Human1name
405187631CV3006040single nucleotide variantNM_014797.3(ZBTB24):c.1623A>T (p.Pro541=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640421]likely benign6109466322109466322Human1name
405188142CV3007165single nucleotide variantNM_014797.3(ZBTB24):c.1804C>T (p.Leu602=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640480]likely benign6109466141109466141Human1name
405198541CV3008186single nucleotide variantNM_014797.3(ZBTB24):c.1629A>G (p.Gln543=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641851]likely benign6109466316109466316Human1name
405189399CV3029972deletionNM_014797.3(ZBTB24):c.431del (p.Gly144fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640628]pathogenic6109481596109481596Human1name
405192669CV3033493single nucleotide variantNM_014797.3(ZBTB24):c.1806G>T (p.Leu602=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640762]likely benign6109466139109466139Human1name
405190441CV3034069single nucleotide variantNM_014797.3(ZBTB24):c.1356C>T (p.His452=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640776]likely benign6109467667109467667Human1name
405190552CV3037331single nucleotide variantNM_014797.3(ZBTB24):c.1557A>G (p.Ser519=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640788]likely benign6109466388109466388Human1name
405198848CV3047543single nucleotide variantNM_014797.3(ZBTB24):c.1062G>A (p.Val354=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641897]likely benign6109476821109476821Human1name
405199085CV3048334single nucleotide variantNM_014797.3(ZBTB24):c.1932A>G (p.Thr644=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641931]likely benign6109466013109466013Human1name
405200099CV3063953single nucleotide variantNM_014797.3(ZBTB24):c.1671C>T (p.Thr557=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003642057]likely benign6109466274109466274Human1name
405201908CV3076793duplicationNM_014797.3(ZBTB24):c.795dup (p.Asp266fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003642300]pathogenic6109481231109481232Human1name
405120251CV3131462single nucleotide variantNM_014797.3(ZBTB24):c.1074T>C (p.Ala358=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003837326]likely benign6109476809109476809Human1name
405112167CV3133567single nucleotide variantNM_014797.3(ZBTB24):c.1641G>A (p.Ser547=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003836360]likely benign6109466304109466304Human1name
405218161CV3135676single nucleotide variantNM_014797.3(ZBTB24):c.1623A>G (p.Pro541=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003824301]likely benign6109466322109466322Human1name
402519106CV3136043single nucleotide variantNM_014797.3(ZBTB24):c.1383A>G (p.Pro461=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003824669]likely benign6109466562109466562Human1name
405203583CV3143993single nucleotide variantNM_014797.3(ZBTB24):c.1959G>A (p.Glu653=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003844783]likely benign6109465986109465986Human1name
405161237CV3160008single nucleotide variantNM_014797.3(ZBTB24):c.1755T>C (p.Thr585=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003857079]likely benign6109466190109466190Human1name
405165555CV3160511single nucleotide variantNM_014797.3(ZBTB24):c.2079C>G (p.Gly693=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003857391]likely benign6109465866109465866Human1name
405246523CV3162291single nucleotide variantNM_014797.3(ZBTB24):c.1728G>A (p.Val576=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003868810]likely benign6109466217109466217Human1name
405133679CV3163914single nucleotide variantNM_014797.3(ZBTB24):c.1320C>G (p.Gly440=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003854902]likely benign6109467703109467703Human1name
402520296CV3179444single nucleotide variantNM_014797.3(ZBTB24):c.1137C>T (p.Thr379=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003879695]likely benign6109476242109476242Human1name
407476898CV3494949single nucleotide variantNM_014797.3(ZBTB24):c.1369C>A (p.Arg457=)not specified [RCV004690850]uncertain significance6109467654109467654Humanname
597631351CV3627724single nucleotide variantNM_014797.3(ZBTB24):c.244A>G (p.Met82Val)Inborn genetic diseases [RCV004967659]uncertain significance6109481783109481783Human1name
597737755CV3728323deletionNM_014797.3(ZBTB24):c.783del (p.Val262fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005037814]likely pathogenic6109481244109481244Human1name
597916005CV3771489single nucleotide variantNM_014797.3(ZBTB24):c.1539C>T (p.Ser513=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005114420]likely benign6109466406109466406Human1name
597948385CV3771889single nucleotide variantNM_014797.3(ZBTB24):c.1341T>C (p.Ser447=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005120415]likely benign6109467682109467682Human1name
597975066CV3798714single nucleotide variantNM_014797.3(ZBTB24):c.1716A>C (p.Gly572=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005144302]likely benign6109466229109466229Human1name
597942173CV3819433single nucleotide variantNM_014797.3(ZBTB24):c.1437A>G (p.Arg479=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005159243]likely benign6109466508109466508Human1name
13471148CV455137single nucleotide variantNM_014797.3(ZBTB24):c.1389C>G (p.Ser463=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000546666]benign6109466556109466556Human1name
13495081CV455764single nucleotide variantNM_014797.3(ZBTB24):c.1701C>T (p.Pro567=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000559372]benign6109466244109466244Human1name
13810857CV560521single nucleotide variantNM_014797.3(ZBTB24):c.109T>C (p.Cys37Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000688386]uncertain significance6109481918109481918Human1name
15170807CV699245single nucleotide variantNM_014797.3(ZBTB24):c.1707T>A (p.Pro569=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000949718]|ZBTB24-related disorder [RCV003913285]|not provided [RCV004705955]likely benign6109466238109466238Human1name , trait , alternate_id
15127251CV710113single nucleotide variantNM_014797.3(ZBTB24):c.2070G>A (p.Thr690=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000963869]|ZBTB24-related disorder [RCV003926224]|not provided [RCV004808987]benign|likely benign6109465875109465875Human1name , trait , alternate_id
15114817CV710115single nucleotide variantNM_014797.3(ZBTB24):c.1059C>T (p.Thr353=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000961744]likely benign6109476824109476824Human1name
15112866CV721641single nucleotide variantNM_014797.3(ZBTB24):c.1665C>T (p.Leu555=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000894551]likely benign6109466280109466280Human1name
15102712CV721642single nucleotide variantNM_014797.3(ZBTB24):c.1177C>T (p.Leu393=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000892534]likely benign6109476202109476202Human1name
15163096CV735330single nucleotide variantNM_014797.3(ZBTB24):c.1686C>T (p.Asn562=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003525977]likely benign6109466259109466259Human1name
15143586CV735331single nucleotide variantNM_014797.3(ZBTB24):c.1047G>A (p.Pro349=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000899861]likely benign6109476836109476836Human1name
15165081CV749735single nucleotide variantNM_014797.3(ZBTB24):c.1974C>G (p.Leu658=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001469753]likely benign6109465971109465971Human1name
15139374CV749736single nucleotide variantNM_014797.3(ZBTB24):c.1149C>T (p.Cys383=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000921494]likely benign6109476230109476230Human1name
15202727CV765420single nucleotide variantNM_014797.3(ZBTB24):c.1857C>T (p.Ser619=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002066153]|not provided [RCV005256723]likely benign6109466088109466088Human1name
15131978CV765421single nucleotide variantNM_014797.3(ZBTB24):c.1734A>G (p.Ala578=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001483854]likely benign6109466211109466211Human1name
15185208CV765422single nucleotide variantNM_014797.3(ZBTB24):c.1689C>T (p.Ile563=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000930995]likely benign6109466256109466256Human1name
15175779CV765423single nucleotide variantNM_014797.3(ZBTB24):c.1116C>T (p.His372=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001473798]likely benign6109476767109476767Human1name
26915892CV831376single nucleotide variantNM_014797.3(ZBTB24):c.1155A>G (p.Lys385=)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001041623]likely benign|uncertain significance6109476224109476224Human1name
38456057CV944844single nucleotide variantNM_014797.3(ZBTB24):c.121T>G (p.Leu41Val)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001228229]uncertain significance6109481906109481906Human1name
126765174CV991245single nucleotide variantNM_014797.3(ZBTB24):c.267C>G (p.Ile89Met)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001301386]uncertain significance6109481760109481760Human1name
126760968CV991246single nucleotide variantNM_014797.3(ZBTB24):c.233T>A (p.Met78Lys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001309457]uncertain significance6109481794109481794Human1name
126736390CV1006383single nucleotide variantNM_014797.3(ZBTB24):c.397A>C (p.Ser133Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001313849]uncertain significance6109481630109481630Human1name
126921021CV1043870single nucleotide variantNM_014797.3(ZBTB24):c.875C>T (p.Pro292Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001374153]uncertain significance6109481152109481152Human1name
127261524CV1060557duplicationNM_014797.3(ZBTB24):c.909dup (p.Lys304Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001387547]pathogenic6109481117109481118Human1name
151351970CV1322167single nucleotide variantNM_014797.3(ZBTB24):c.569A>G (p.Asn190Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001869497]|not specified [RCV001806790]uncertain significance6109481458109481458Human1name
151812111CV1346934single nucleotide variantNM_014797.3(ZBTB24):c.808G>A (p.Val270Ile)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002048954]uncertain significance6109481219109481219Human1name
151879009CV1370202single nucleotide variantNM_014797.3(ZBTB24):c.889A>G (p.Lys297Glu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001961400]uncertain significance6109481138109481138Human1name
151852644CV1397444single nucleotide variantNM_014797.3(ZBTB24):c.851G>A (p.Gly284Glu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001958199]uncertain significance6109481176109481176Human1name
151879936CV1405744single nucleotide variantNM_014797.3(ZBTB24):c.755G>A (p.Arg252Gln)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001940867]uncertain significance6109481272109481272Human1name
151891544CV1410126single nucleotide variantNM_014797.3(ZBTB24):c.899G>A (p.Gly300Asp)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001943411]uncertain significance6109481128109481128Human1name
151801521CV1436806single nucleotide variantNM_014797.3(ZBTB24):c.716A>G (p.Tyr239Cys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001973949]uncertain significance6109481311109481311Human1name
151711373CV1440055single nucleotide variantNM_014797.3(ZBTB24):c.733G>T (p.Asp245Tyr)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001908078]uncertain significance6109481294109481294Human1name
151737554CV1469437single nucleotide variantNM_014797.3(ZBTB24):c.994G>T (p.Ala332Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002041886]uncertain significance6109476889109476889Human1name
151784984CV1499125single nucleotide variantNM_014797.3(ZBTB24):c.607G>C (p.Asp203His)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002026622]|not provided [RCV004694146]uncertain significance6109481420109481420Human1name
151759777CV1500864single nucleotide variantNM_014797.3(ZBTB24):c.750G>C (p.Gln250His)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001987127]|Inborn genetic diseases [RCV002562084]uncertain significance6109481277109481277Human2name
151848003CV1502498single nucleotide variantNM_014797.3(ZBTB24):c.871G>A (p.Gly291Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001882220]uncertain significance6109481156109481156Human1name
151751894CV1508455single nucleotide variantNM_014797.3(ZBTB24):c.898G>A (p.Gly300Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001986368]uncertain significance6109481129109481129Human1name
153305677CV1688728single nucleotide variantNM_014797.3(ZBTB24):c.464A>G (p.Asn155Ser)not specified [RCV002266467]uncertain significance6109481563109481563Humanname
156252377CV1867920single nucleotide variantNM_014797.3(ZBTB24):c.367A>G (p.Lys123Glu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003060070]uncertain significance6109481660109481660Human1name
155939371CV1913466single nucleotide variantNM_014797.3(ZBTB24):c.679A>G (p.Arg227Gly)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002615526]|Inborn genetic diseases [RCV004963484]uncertain significance6109481348109481348Human2name
156385916CV1961238single nucleotide variantNM_014797.3(ZBTB24):c.509C>T (p.Thr170Ile)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002583481]uncertain significance6109481518109481518Human1name
156249134CV1989025single nucleotide variantNM_014797.3(ZBTB24):c.917A>G (p.Asn306Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002627392]uncertain significance6109481110109481110Human1name
155907871CV2027738single nucleotide variantNM_014797.3(ZBTB24):c.668G>A (p.Cys223Tyr)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002726585]|Inborn genetic diseases [RCV003273997]uncertain significance6109481359109481359Human2name
156111553CV2047000single nucleotide variantNM_014797.3(ZBTB24):c.332C>T (p.Ala111Val)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002761715]uncertain significance6109481695109481695Human1name
156109233CV2096635single nucleotide variantNM_014797.3(ZBTB24):c.337G>C (p.Ala113Pro)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002913710]uncertain significance6109481690109481690Human1name
156009715CV2126798duplicationNM_014797.3(ZBTB24):c.1439dup (p.His480fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002975582]pathogenic6109466505109466506Human1name
156265536CV2134958single nucleotide variantNM_014797.3(ZBTB24):c.863G>A (p.Arg288His)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002988628]uncertain significance6109481164109481164Human1name
156247221CV2145576single nucleotide variantNM_014797.3(ZBTB24):c.506A>G (p.Asn169Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003008314]uncertain significance6109481521109481521Human1name
156368807CV2190550single nucleotide variantNM_014797.3(ZBTB24):c.309G>C (p.Glu103Asp)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003066136]uncertain significance6109481718109481718Human1name
156384781CV2231186single nucleotide variantNM_014797.3(ZBTB24):c.416C>T (p.Thr139Ile)Inborn genetic diseases [RCV002723296]uncertain significance6109481611109481611Human1name
156346061CV2305130single nucleotide variantNM_014797.3(ZBTB24):c.707A>T (p.Asp236Val)Inborn genetic diseases [RCV002939195]uncertain significance6109481320109481320Human1name
243062118CV2414324single nucleotide variantNM_014797.3(ZBTB24):c.452C>G (p.Ser151Cys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003139393]uncertain significance6109481575109481575Human1name
11525992CV246994single nucleotide variantNM_014797.3(ZBTB24):c.341A>G (p.Gln114Arg)not specified [RCV000239181]uncertain significance6109481686109481686Humanname
401758110CV2682184single nucleotide variantNM_014797.3(ZBTB24):c.854G>A (p.Arg285Lys)Inborn genetic diseases [RCV003279600]uncertain significance6109481173109481173Human1name
401744718CV2688218single nucleotide variantNM_014797.3(ZBTB24):c.787A>G (p.Lys263Glu)Inborn genetic diseases [RCV003275351]uncertain significance6109481240109481240Human1name
405007406CV2892233deletionNM_014797.3(ZBTB24):c.1161del (p.Phe387fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003526924]pathogenic6109476218109476218Human1name
405010714CV2904836single nucleotide variantNM_014797.3(ZBTB24):c.787A>T (p.Lys263Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527202]pathogenic6109481240109481240Human1name
405195887CV2965773single nucleotide variantNM_014797.3(ZBTB24):c.719A>T (p.Asp240Val)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641465]uncertain significance6109481308109481308Human1name
405196816CV2979189single nucleotide variantNM_014797.3(ZBTB24):c.947A>G (p.His316Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641597]uncertain significance6109481080109481080Human1name
405189484CV3020115deletionNM_014797.3(ZBTB24):c.44_50del (p.His15fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640638]pathogenic6109481977109481983Human1name
405190347CV3039573single nucleotide variantNM_014797.3(ZBTB24):c.658G>T (p.Glu220Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640766]pathogenic6109481369109481369Human1name
405201419CV3168792single nucleotide variantNM_014797.3(ZBTB24):c.997C>T (p.Gln333Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003860730]pathogenic6109476886109476886Human1name
405803490CV3356834single nucleotide variantNM_014797.3(ZBTB24):c.659A>C (p.Glu220Ala)Inborn genetic diseases [RCV004478836]uncertain significance6109481368109481368Human1name
405803493CV3356835single nucleotide variantNM_014797.3(ZBTB24):c.875C>G (p.Pro292Arg)Inborn genetic diseases [RCV004478837]uncertain significance6109481152109481152Human1name
407465877CV3494029single nucleotide variantNM_014797.3(ZBTB24):c.676A>G (p.Ser226Gly)Inborn genetic diseases [RCV004688887]likely benign6109481351109481351Human1name
597631347CV3627722single nucleotide variantNM_014797.3(ZBTB24):c.482A>G (p.Lys161Arg)Inborn genetic diseases [RCV004967657]uncertain significance6109481545109481545Human1name
597631353CV3627728single nucleotide variantNM_014797.3(ZBTB24):c.479G>A (p.Arg160Gln)Inborn genetic diseases [RCV004967662]uncertain significance6109481548109481548Human1name
597937240CV3774654duplicationNM_014797.3(ZBTB24):c.758dup (p.Tyr253Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005117687]pathogenic6109481268109481269Human1name
597848590CV3824128single nucleotide variantNM_014797.3(ZBTB24):c.971G>A (p.Cys324Tyr)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005173367]uncertain significance6109476912109476912Human1name
598243183CV3930345single nucleotide variantNM_014797.3(ZBTB24):c.953G>A (p.Gly318Glu)Inborn genetic diseases [RCV005297244]uncertain significance6109476930109476930Human1name
8568783CV40050single nucleotide variantNM_014797.3(ZBTB24):c.958C>T (p.Arg320Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000024088]|not provided [RCV001310932]pathogenic6109476925109476925Human1name
8568785CV40052single nucleotide variantNM_014797.3(ZBTB24):c.833C>G (p.Ser278Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000024090]pathogenic6109481194109481194Human1name
616934940CV4009176single nucleotide variantNM_014797.3(ZBTB24):c.553C>T (p.Gln185Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005402348]pathogenic6109481474109481474Human1name
13622075CV521571single nucleotide variantNM_014797.3(ZBTB24):c.730G>C (p.Glu244Gln)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649284]|Inborn genetic diseases [RCV004025777]likely benign|uncertain significance6109481297109481297Human2name
13622074CV521652single nucleotide variantNM_014797.3(ZBTB24):c.860A>G (p.Lys287Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649283]uncertain significance6109481167109481167Human1name
13622071CV521910single nucleotide variantNM_014797.3(ZBTB24):c.439G>T (p.Val147Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649280]uncertain significance6109481588109481588Human1name
13806443CV560515single nucleotide variantNM_014797.3(ZBTB24):c.767G>A (p.Arg256Gln)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000700579]uncertain significance6109481260109481260Human1name
13812941CV563289single nucleotide variantNM_014797.3(ZBTB24):c.784G>A (p.Val262Ile)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000689747]uncertain significance6109481243109481243Human1name
13814590CV563296single nucleotide variantNM_014797.3(ZBTB24):c.301G>A (p.Ala101Thr)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000690984]uncertain significance6109481726109481726Human1name
13837132CV588417deletionNM_014797.3(ZBTB24):c.1134del (p.Phe378fs)not provided [RCV000733446]likely pathogenic6109476245109476245Humanname
14729245CV634470single nucleotide variantNM_014797.3(ZBTB24):c.943A>G (p.Ser315Gly)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000800402]|Inborn genetic diseases [RCV003243309]uncertain significance6109481084109481084Human2name
14711918CV634471single nucleotide variantNM_014797.3(ZBTB24):c.883C>T (p.Arg295Cys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000810119]uncertain significance6109481144109481144Human1name
14710682CV634472single nucleotide variantNM_014797.3(ZBTB24):c.788A>G (p.Lys263Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000809681]|Inborn genetic diseases [RCV004028677]uncertain significance6109481239109481239Human2name
14711161CV634474single nucleotide variantNM_014797.3(ZBTB24):c.356A>G (p.Tyr119Cys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000793355]|Inborn genetic diseases [RCV004965736]uncertain significance6109481671109481671Human2name
14732353CV634475single nucleotide variantNM_014797.3(ZBTB24):c.334A>G (p.Thr112Ala)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000801807]|Inborn genetic diseases [RCV002534688]uncertain significance6109481693109481693Human2name
15158451CV721643single nucleotide variantNM_014797.3(ZBTB24):c.581A>T (p.Asn194Ile)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000881010]|ZBTB24-related disorder [RCV003967983]likely benign6109481446109481446Human1name , trait , alternate_id
15123862CV735332single nucleotide variantNM_014797.3(ZBTB24):c.884G>A (p.Arg295His)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000896484]likely benign6109481143109481143Human1name
26911892CV831378single nucleotide variantNM_014797.3(ZBTB24):c.855G>T (p.Arg285Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001053089]uncertain significance6109481172109481172Human1name
26920987CV831379single nucleotide variantNM_014797.3(ZBTB24):c.730G>A (p.Glu244Lys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001060546]|not provided [RCV001310933]uncertain significance6109481297109481297Human1name
26912275CV831380single nucleotide variantNM_014797.3(ZBTB24):c.430G>C (p.Gly144Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001039151]uncertain significance6109481597109481597Human1name
26892975CV831381single nucleotide variantNM_014797.3(ZBTB24):c.401C>A (p.Ser134Tyr)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001047174]uncertain significance6109481626109481626Human1name
28879228CV859457single nucleotide variantNM_014797.3(ZBTB24):c.817C>T (p.Gln273Ter)not provided [RCV001090679]likely pathogenic6109481210109481210Humanname
38485480CV924206single nucleotide variantNM_014797.3(ZBTB24):c.904G>A (p.Val302Ile)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001219867]uncertain significance6109481123109481123Human1name
38493078CV924207duplicationNM_014797.3(ZBTB24):c.888dup (p.Lys297Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001224021]pathogenic6109481138109481139Human1name
38484382CV924208single nucleotide variantNM_014797.3(ZBTB24):c.806T>C (p.Leu269Pro)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001219385]uncertain significance6109481221109481221Human1name
38483448CV924209single nucleotide variantNM_014797.3(ZBTB24):c.796G>A (p.Asp266Asn)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001218920]uncertain significance6109481231109481231Human1name
38480549CV924210single nucleotide variantNM_014797.3(ZBTB24):c.746G>A (p.Ser249Asn)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001217586]uncertain significance6109481281109481281Human1name
38482263CV924211single nucleotide variantNM_014797.3(ZBTB24):c.637G>A (p.Ala213Thr)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001218385]uncertain significance6109481390109481390Human1name
38460496CV933116single nucleotide variantNM_014797.3(ZBTB24):c.818A>G (p.Gln273Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001211844]|Inborn genetic diseases [RCV004033839]uncertain significance6109481209109481209Human2name
38456402CV933117single nucleotide variantNM_014797.3(ZBTB24):c.620T>C (p.Leu207Pro)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001210806]uncertain significance6109481407109481407Human1name
38490447CV933118single nucleotide variantNM_014797.3(ZBTB24):c.376A>G (p.Thr126Ala)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001210660]uncertain significance6109481651109481651Human1name
38499298CV954319single nucleotide variantNM_014797.3(ZBTB24):c.826C>G (p.His276Asp)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001244447]uncertain significance6109481201109481201Human1name
41407751CV980455single nucleotide variantNM_014797.3(ZBTB24):c.745A>C (p.Ser249Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001281004]uncertain significance6109481282109481282Human1name
126745714CV991243single nucleotide variantNM_014797.3(ZBTB24):c.944G>C (p.Ser315Thr)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001296489]uncertain significance6109481083109481083Human1name
126764048CV991244single nucleotide variantNM_014797.3(ZBTB24):c.665C>T (p.Thr222Ile)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001300943]uncertain significance6109481362109481362Human1name
126738711CV1006379single nucleotide variantNM_014797.3(ZBTB24):c.1984A>G (p.Thr662Ala)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001324959]uncertain significance6109465961109465961Human1name
126727886CV1006381single nucleotide variantNM_014797.3(ZBTB24):c.1787C>T (p.Thr596Met)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001312385]uncertain significance6109466158109466158Human1name
126750999CV1006382single nucleotide variantNM_014797.3(ZBTB24):c.1329C>G (p.Phe443Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001326828]uncertain significance6109467694109467694Human1name
126735158CV1020150single nucleotide variantNM_014797.3(ZBTB24):c.1891C>G (p.Gln631Glu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001334790]uncertain significance6109466054109466054Human1name
126735152CV1020151single nucleotide variantNM_014797.3(ZBTB24):c.1202C>T (p.Thr401Ile)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001334789]uncertain significance6109476177109476177Human1name
126774744CV1026911single nucleotide variantNM_014797.3(ZBTB24):c.2056G>A (p.Val686Met)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001347581]|not provided [RCV004692608]uncertain significance6109465889109465889Human1name
126773826CV1026912single nucleotide variantNM_014797.3(ZBTB24):c.1996G>A (p.Asp666Asn)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001346516]uncertain significance6109465949109465949Human1name
126764455CV1026913single nucleotide variantNM_014797.3(ZBTB24):c.1774C>T (p.Leu592Phe)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001341662]uncertain significance6109466171109466171Human1name
126763827CV1026914single nucleotide variantNM_014797.3(ZBTB24):c.1676C>G (p.Ser559Cys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001341429]uncertain significance6109466269109466269Human1name
126919432CV1043869single nucleotide variantNM_014797.3(ZBTB24):c.1249G>A (p.Asp417Asn)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001362288]uncertain significance6109475438109475438Human1name
151351968CV1322165single nucleotide variantNM_014797.3(ZBTB24):c.1235A>G (p.His412Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001885258]|not specified [RCV001806788]uncertain significance6109475452109475452Human1name
151351969CV1322166single nucleotide variantNM_014797.3(ZBTB24):c.1614G>C (p.Gln538His)not specified [RCV001806789]uncertain significance6109466331109466331Humanname
151883623CV1338033single nucleotide variantNM_014797.3(ZBTB24):c.1925A>G (p.Lys642Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001962171]|Inborn genetic diseases [RCV004040372]uncertain significance6109466020109466020Human2name
151778672CV1342867single nucleotide variantNM_014797.3(ZBTB24):c.1058C>T (p.Thr353Ile)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001988927]uncertain significance6109476825109476825Human1name
151796200CV1347766single nucleotide variantNM_014797.3(ZBTB24):c.1060G>A (p.Val354Met)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001990527]|Inborn genetic diseases [RCV002569260]uncertain significance6109476823109476823Human2name
151863370CV1347856single nucleotide variantNM_014797.3(ZBTB24):c.1208A>G (p.His403Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001959513]uncertain significance6109475479109475479Human1name
151709058CV1359667single nucleotide variantNM_014797.3(ZBTB24):c.2036C>T (p.Pro679Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001991983]uncertain significance6109465909109465909Human1name
151783036CV1384173single nucleotide variantNM_014797.3(ZBTB24):c.2025G>C (p.Gln675His)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001886921]uncertain significance6109465920109465920Human1name
151742280CV1390844single nucleotide variantNM_014797.3(ZBTB24):c.1217C>T (p.Pro406Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001985351]uncertain significance6109475470109475470Human1name
151808540CV1407148single nucleotide variantNM_014797.3(ZBTB24):c.1043G>A (p.Arg348Gln)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002048636]uncertain significance6109476840109476840Human1name
151822818CV1424949single nucleotide variantNM_014797.3(ZBTB24):c.1033A>G (p.Thr345Ala)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001919742]uncertain significance6109476850109476850Human1name
151802722CV1442431single nucleotide variantNM_014797.3(ZBTB24):c.1867A>G (p.Ile623Val)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002011721]|Inborn genetic diseases [RCV005301084]uncertain significance6109466078109466078Human2name
151771182CV1451610single nucleotide variantNM_014797.3(ZBTB24):c.1685A>C (p.Asn562Thr)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001988250]uncertain significance6109466260109466260Human1name
151828775CV1465431single nucleotide variantNM_014797.3(ZBTB24):c.1145A>G (p.Gln382Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002014101]uncertain significance6109476234109476234Human1name
151796935CV1467558single nucleotide variantNM_014797.3(ZBTB24):c.1133T>C (p.Phe378Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001952562]uncertain significance6109476246109476246Human1name
151866379CV1472485single nucleotide variantNM_014797.3(ZBTB24):c.1235A>T (p.His412Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002018396]uncertain significance6109475452109475452Human1name
151836303CV1489413single nucleotide variantNM_014797.3(ZBTB24):c.1553C>G (p.Ala518Gly)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001902330]uncertain significance6109466392109466392Human1name
151886792CV1495839single nucleotide variantNM_014797.3(ZBTB24):c.1118C>G (p.Ser373Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001887638]pathogenic6109476765109476765Human1name
151720140CV1500486single nucleotide variantNM_014797.3(ZBTB24):c.1468T>C (p.Phe490Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001909595]uncertain significance6109466477109466477Human1name
152100397CV1540005single nucleotide variantNM_014797.3(ZBTB24):c.1457G>A (p.Gly486Asp)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002095444]likely benign6109466488109466488Human1name
152166836CV1666470single nucleotide variantNM_014797.3(ZBTB24):c.1583G>A (p.Ser528Asn)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002204544]uncertain significance6109466362109466362Human1name
155715819CV1774139single nucleotide variantNM_014797.3(ZBTB24):c.1642G>C (p.Gly548Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002296417]uncertain significance6109466303109466303Human1name
156002126CV1869517single nucleotide variantNM_014797.3(ZBTB24):c.1085A>G (p.Lys362Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003076640]uncertain significance6109476798109476798Human1name
156064198CV1877970single nucleotide variantNM_014797.3(ZBTB24):c.1072G>T (p.Ala358Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003037362]uncertain significance6109476811109476811Human1name
156380691CV1899802single nucleotide variantNM_014797.3(ZBTB24):c.2041C>T (p.Pro681Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003093249]|Inborn genetic diseases [RCV005301250]|not provided [RCV003434572]likely benign|uncertain significance6109465904109465904Human2name
156041535CV1926886single nucleotide variantNM_014797.3(ZBTB24):c.1849A>G (p.Ile617Val)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002637594]uncertain significance6109466096109466096Human1name
156366209CV1928840single nucleotide variantNM_014797.3(ZBTB24):c.1681C>T (p.His561Tyr)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002633032]uncertain significance6109466264109466264Human1name
156419350CV1932555single nucleotide variantNM_014797.3(ZBTB24):c.1444A>G (p.Ile482Val)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002612580]|Inborn genetic diseases [RCV005301266]uncertain significance6109466501109466501Human2name
156123259CV1952895single nucleotide variantNM_014797.3(ZBTB24):c.1856G>A (p.Ser619Asn)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002571946]uncertain significance6109466089109466089Human1name
156227479CV1955849single nucleotide variantNM_014797.3(ZBTB24):c.1480G>A (p.Glu494Lys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002575753]uncertain significance6109466465109466465Human1name
156159156CV1984314single nucleotide variantNM_014797.3(ZBTB24):c.1946A>G (p.His649Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002642339]uncertain significance6109465999109465999Human1name
156139923CV2006561single nucleotide variantNM_014797.3(ZBTB24):c.1465C>G (p.Pro489Ala)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002663529]uncertain significance6109466480109466480Human1name
156398254CV2013050single nucleotide variantNM_014797.3(ZBTB24):c.1762C>A (p.Gln588Lys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002725777]uncertain significance6109466183109466183Human1name
156059421CV2034443single nucleotide variantNM_014797.3(ZBTB24):c.1039G>A (p.Glu347Lys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002736784]|Inborn genetic diseases [RCV003167707]uncertain significance6109476844109476844Human2name
156278215CV2074447single nucleotide variantNM_014797.3(ZBTB24):c.1310A>C (p.Glu437Ala)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002856289]uncertain significance6109467713109467713Human1name
156009684CV2075459single nucleotide variantNM_014797.3(ZBTB24):c.1399T>A (p.Cys467Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002843804]uncertain significance6109466546109466546Human1name
156306878CV2123163single nucleotide variantNM_014797.3(ZBTB24):c.1421C>T (p.Ser474Phe)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002962407]uncertain significance6109466524109466524Human1name
156096516CV2132069single nucleotide variantNM_014797.3(ZBTB24):c.1949C>A (p.Ala650Asp)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003002044]uncertain significance6109465996109465996Human1name
156207754CV2160256single nucleotide variantNM_014797.3(ZBTB24):c.1340G>A (p.Ser447Asn)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003042215]uncertain significance6109467683109467683Human1name
156186943CV2169492single nucleotide variantNM_014797.3(ZBTB24):c.1903G>A (p.Val635Met)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003041530]uncertain significance6109466042109466042Human1name
156268175CV2296786single nucleotide variantNM_014797.3(ZBTB24):c.1621C>T (p.Pro541Ser)Inborn genetic diseases [RCV002855848]uncertain significance6109466324109466324Human1name
156063621CV2349644single nucleotide variantNM_014797.3(ZBTB24):c.1207C>T (p.His403Tyr)Inborn genetic diseases [RCV003000330]|not provided [RCV003434654]uncertain significance6109475480109475480Human1name
329351483CV2478093single nucleotide variantNM_014797.3(ZBTB24):c.1786A>G (p.Thr596Ala)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003224759]uncertain significance6109466159109466159Human1name
401747427CV2691563single nucleotide variantNM_014797.3(ZBTB24):c.1985C>T (p.Thr662Ile)Inborn genetic diseases [RCV003285678]uncertain significance6109465960109465960Human1name
405193661CV2938517single nucleotide variantNM_014797.3(ZBTB24):c.1593A>T (p.Glu531Asp)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641180]likely benign6109466352109466352Human1name
405041284CV3020869single nucleotide variantNM_014797.3(ZBTB24):c.2066C>T (p.Pro689Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640666]uncertain significance6109465879109465879Human1name
405803478CV3356829single nucleotide variantNM_014797.3(ZBTB24):c.1015G>T (p.Val339Phe)Inborn genetic diseases [RCV004478831]uncertain significance6109476868109476868Human1name
405803481CV3356830single nucleotide variantNM_014797.3(ZBTB24):c.1700C>G (p.Pro567Arg)Inborn genetic diseases [RCV004478832]uncertain significance6109466245109466245Human1name
405803486CV3356832single nucleotide variantNM_014797.3(ZBTB24):c.1854G>C (p.Gln618His)Inborn genetic diseases [RCV004478834]uncertain significance6109466091109466091Human1name
405803488CV3356833single nucleotide variantNM_014797.3(ZBTB24):c.2018T>C (p.Leu673Pro)Inborn genetic diseases [RCV004478835]uncertain significance6109465927109465927Human1name
407465873CV3494028single nucleotide variantNM_014797.3(ZBTB24):c.1720A>C (p.Ser574Arg)Inborn genetic diseases [RCV004688886]uncertain significance6109466225109466225Human1name
407465880CV3494030single nucleotide variantNM_014797.3(ZBTB24):c.1841C>T (p.Thr614Ile)Inborn genetic diseases [RCV004688888]uncertain significance6109466104109466104Human1name
408388354CV3522634single nucleotide variantNM_014797.3(ZBTB24):c.1670C>A (p.Thr557Asn)not provided [RCV004769015]uncertain significance6109466275109466275Humanname
597631349CV3627723single nucleotide variantNM_014797.3(ZBTB24):c.1683T>G (p.His561Gln)Inborn genetic diseases [RCV004967658]uncertain significance6109466262109466262Human1name
597699428CV3627725single nucleotide variantNM_014797.3(ZBTB24):c.2068A>T (p.Thr690Ser)Inborn genetic diseases [RCV004967660]uncertain significance6109465877109465877Human1name
597699432CV3627726single nucleotide variantNM_014797.3(ZBTB24):c.2055C>G (p.His685Gln)Inborn genetic diseases [RCV004967661]uncertain significance6109465890109465890Human1name
597934423CV3810921single nucleotide variantNM_014797.3(ZBTB24):c.1492C>T (p.Gln498Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005157630]pathogenic6109466453109466453Human1name
597888674CV3859540single nucleotide variantNM_014797.3(ZBTB24):c.1425T>G (p.Ser475Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005200196]uncertain significance6109466520109466520Human1name
598243177CV3930344single nucleotide variantNM_014797.3(ZBTB24):c.1866G>T (p.Met622Ile)Inborn genetic diseases [RCV005297243]uncertain significance6109466079109466079Human1name
8568786CV40053single nucleotide variantNM_014797.3(ZBTB24):c.1222T>G (p.Cys408Gly)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000024091]|not provided [RCV003237415]pathogenic6109475465109475465Human1name
8568787CV40054single nucleotide variantNM_014797.3(ZBTB24):c.1369C>T (p.Arg457Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000024092]pathogenic|likely pathogenic6109467654109467654Human1name
13471369CV455135single nucleotide variantNM_014797.3(ZBTB24):c.1666G>A (p.Val556Ile)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000546814]uncertain significance6109466279109466279Human1name
13482976CV455278single nucleotide variantNM_014797.3(ZBTB24):c.1552G>A (p.Ala518Thr)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000529654]benign6109466393109466393Human1name
13622076CV521278single nucleotide variantNM_014797.3(ZBTB24):c.1750A>T (p.Met584Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649285]|Inborn genetic diseases [RCV002531940]|not provided [RCV004568450]likely benign|uncertain significance6109466195109466195Human2name
13622084CV521280single nucleotide variantNM_014797.3(ZBTB24):c.1672G>A (p.Asp558Asn)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649293]|ZBTB24-related disorder [RCV003965380]|not provided [RCV001573425]benign|likely benign6109466273109466273Human1name , trait , alternate_id
13622073CV521287single nucleotide variantNM_014797.3(ZBTB24):c.1237C>T (p.Arg413Cys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649282]|not provided [RCV001090678]uncertain significance6109475450109475450Human1name
13622072CV521289single nucleotide variantNM_014797.3(ZBTB24):c.1154A>G (p.Lys385Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649281]|Inborn genetic diseases [RCV002531939]uncertain significance6109476225109476225Human2name
13622080CV521645single nucleotide variantNM_014797.3(ZBTB24):c.1688T>C (p.Ile563Thr)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649289]|ZBTB24-related disorder [RCV003945645]benign|likely benign|conflicting interpretations of pathogenicity6109466257109466257Human1name , trait , alternate_id
13622077CV521898single nucleotide variantNM_014797.3(ZBTB24):c.2094A>G (p.Ter698Trp)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000649286]uncertain significance6109465851109465851Human1name
13819490CV560401single nucleotide variantNM_014797.3(ZBTB24):c.2068A>G (p.Thr690Ala)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000694360]|Inborn genetic diseases [RCV002532262]uncertain significance6109465877109465877Human2name
13819357CV563279single nucleotide variantNM_014797.3(ZBTB24):c.1969G>A (p.Glu657Lys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000694279]uncertain significance6109465976109465976Human1name
13821981CV563285single nucleotide variantNM_014797.3(ZBTB24):c.1597G>C (p.Val533Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000696649]uncertain significance6109466348109466348Human1name
13805206CV565261single nucleotide variantNM_014797.3(ZBTB24):c.1811A>G (p.Asn604Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000699954]uncertain significance6109466134109466134Human1name
14710965CV634468single nucleotide variantNM_014797.3(ZBTB24):c.1322A>G (p.Lys441Arg)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000793297]|Inborn genetic diseases [RCV004686613]uncertain significance6109467701109467701Human2name
14739790CV634469single nucleotide variantNM_014797.3(ZBTB24):c.1192C>T (p.Arg398Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000805088]pathogenic6109476187109476187Human1name
15182806CV710114single nucleotide variantNM_014797.3(ZBTB24):c.1702G>A (p.Gly568Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001402347]likely benign6109466243109466243Human1name
26914971CV831370single nucleotide variantNM_014797.3(ZBTB24):c.2078G>A (p.Gly693Asp)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001041045]|Inborn genetic diseases [RCV003160270]uncertain significance6109465867109465867Human2name
26907171CV831371single nucleotide variantNM_014797.3(ZBTB24):c.1936G>A (p.Glu646Lys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001052105]uncertain significance6109466009109466009Human1name
26892548CV831372single nucleotide variantNM_014797.3(ZBTB24):c.1748A>G (p.Asn583Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001047000]uncertain significance6109466197109466197Human1name
26918080CV831373single nucleotide variantNM_014797.3(ZBTB24):c.1602G>C (p.Arg534Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001057526]uncertain significance6109466343109466343Human1name
26886356CV831374single nucleotide variantNM_014797.3(ZBTB24):c.1538G>A (p.Ser513Asn)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001044173]uncertain significance6109466407109466407Human1name
26922911CV831375single nucleotide variantNM_014797.3(ZBTB24):c.1280C>A (p.Thr427Lys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001062970]uncertain significance6109475407109475407Human1name
26889052CV831377single nucleotide variantNM_014797.3(ZBTB24):c.1046C>T (p.Pro349Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001067320]uncertain significance6109476837109476837Human1name
38478473CV933114single nucleotide variantNM_014797.3(ZBTB24):c.1753A>T (p.Thr585Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001205565]uncertain significance6109466192109466192Human1name
38456680CV933115single nucleotide variantNM_014797.3(ZBTB24):c.1498G>T (p.Ala500Ser)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001210894]|Inborn genetic diseases [RCV004963203]uncertain significance6109466447109466447Human2name
38480597CV944841single nucleotide variantNM_014797.3(ZBTB24):c.2069C>T (p.Thr690Met)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001234777]uncertain significance6109465876109465876Human1name
38487478CV944842single nucleotide variantNM_014797.3(ZBTB24):c.2050C>T (p.His684Tyr)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001237590]|not provided [RCV004768961]uncertain significance6109465895109465895Human1name
38482722CV944843single nucleotide variantNM_014797.3(ZBTB24):c.1715G>A (p.Gly572Glu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001235638]uncertain significance6109466230109466230Human1name
38471453CV954317single nucleotide variantNM_014797.3(ZBTB24):c.1889C>T (p.Ser630Leu)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001248655]uncertain significance6109466056109466056Human1name
38499413CV954318single nucleotide variantNM_014797.3(ZBTB24):c.1501C>T (p.Arg501Cys)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001244628]uncertain significance6109466444109466444Human1name
126736871CV991242single nucleotide variantNM_014797.3(ZBTB24):c.1394G>A (p.Gly465Asp)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001304802]|Inborn genetic diseases [RCV004967983]uncertain significance6109466551109466551Human2name
405189169CV3029587deletionNM_014797.3(ZBTB24):c.226_227del (p.Ile76fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640601]pathogenic6109481800109481801Human1name
151783903CV1424616microsatelliteNM_014797.3(ZBTB24):c.544GAA[1] (p.Glu183del)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV001865211]uncertain significance6109481478109481480Humanname
156279270CV1912072microsatelliteNM_014797.3(ZBTB24):c.517GAG[1] (p.Glu174del)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002628372]uncertain significance6109481505109481507Humanname
156285225CV1942146microsatelliteNM_014797.3(ZBTB24):c.442GTT[1] (p.Val149del)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003111727]|Inborn genetic diseases [RCV002961209]uncertain significance6109481580109481582Humanname
401948270CV2832456duplicationNM_014797.3(ZBTB24):c.747_754dup (p.Arg252fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003447861]likely pathogenic6109481272109481273Human1name
404995753CV2862891microsatelliteNM_014797.3(ZBTB24):c.377_378del (p.Thr126fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003525627]pathogenic6109481649109481650Humanname
405195629CV2972155duplicationNM_014797.3(ZBTB24):c.868_875dup (p.Arg295fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641430]pathogenic6109481151109481152Human1name
405198227CV3000295deletionNM_014797.3(ZBTB24):c.911_914del (p.Lys304fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641807]pathogenic6109481113109481116Human1name
405189797CV3027958deletionNM_014797.3(ZBTB24):c.825_844del (p.His276fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640678]pathogenic6109481183109481202Human1name
405190376CV3036720deletionNM_014797.3(ZBTB24):c.350_351del (p.Lys117fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003640769]pathogenic6109481676109481677Human1name
405114156CV3115398deletionNM_014797.3(ZBTB24):c.593_594del (p.Phe198fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003814080]pathogenic6109481433109481434Human1name
597875479CV3747746deletionNM_014797.3(ZBTB24):c.433_434del (p.Ala145fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005069237]pathogenic6109481593109481594Human1name
8570743CV48678deletionNM_014797.3(ZBTB24):c.396_397del (p.His132fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV000033203]pathogenic6109481630109481631Human1name
152101243CV1540155insertionNM_014797.3(ZBTB24):c.1121-20_1121-19insTAAAACAImmunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002095558]likely benign6109476277109476278Human1name
405014184CV2915656deletionNM_014797.3(ZBTB24):c.1125_1135del (p.Gln375fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003527558]pathogenic6109476244109476254Human1name
405198288CV2993526deletionNM_014797.3(ZBTB24):c.1272_1281del (p.Leu425fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641816]pathogenic6109475406109475415Human1name
597737309CV3728320microsatelliteNM_014797.3(ZBTB24):c.1634_1635del (p.Ser545fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV005037812]likely pathogenic6109466310109466311Humanname
12913184CV421563deletionNM_014797.3(ZBTB24):c.1492_1493del (p.Gln498fs)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV004596230]|not provided [RCV000493496]pathogenic6109466452109466453Human1name
405196953CV2979524indelNM_014797.3(ZBTB24):c.971_972delinsAA (p.Cys324Ter)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV003641618]pathogenic6109476911109476912Humanname
156390528CV1964803deletionNM_014797.3(ZBTB24):c.869_877del (p.Gly290_Pro292del)Immunodeficiency-centromeric instability-facial anomalies syndrome 2 [RCV002583827]uncertain significance6109481150109481158Human1name