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389 records found for search term Zfpm2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
13626747CV523548single nucleotide variantNM_012082.4(ZFPM2):c.41-4C>A46,XY sex reversal 9 [RCV000655310]benign8105419140105419140Human1name , alternate_id
127277339CV1074979single nucleotide variantNM_012082.4(ZFPM2):c.302-5T>C46,XY sex reversal 9 [RCV001407713]likely benign8105561358105561358Human1name , alternate_id
127310373CV1139082single nucleotide variantNM_012082.4(ZFPM2):c.302-4G>A46,XY sex reversal 9 [RCV001501322]likely benign8105561359105561359Human1name , alternate_id
152171451CV1552751single nucleotide variantNM_012082.4(ZFPM2):c.200-8T>G46,XY sex reversal 9 [RCV002143450]benign8105444272105444272Human1name , alternate_id
152136707CV1595197single nucleotide variantNM_012082.4(ZFPM2):c.40+12C>G46,XY sex reversal 9 [RCV002200043]|Diaphragmatic hernia 3 [RCV002494097]benign|likely benign8105318993105318993Human3name , alternate_id
152060246CV1650517single nucleotide variantNM_012082.4(ZFPM2):c.421-5T>C46,XY sex reversal 9 [RCV002128255]benign8105634241105634241Human1name , alternate_id
405169982CV2899726single nucleotide variantNM_012082.4(ZFPM2):c.964+4A>C46,XY sex reversal 9 [RCV003587477]uncertain significance8105798952105798952Human1name , alternate_id
405103531CV3076506single nucleotide variantNM_012082.4(ZFPM2):c.41-10C>G46,XY sex reversal 9 [RCV003749684]benign8105419134105419134Human1name , alternate_id
405087997CV3134067single nucleotide variantNM_012082.4(ZFPM2):c.40+11G>C46,XY sex reversal 9 [RCV003834605]likely benign8105318992105318992Human1name , alternate_id
408374284CV3515409single nucleotide variantNM_012082.4(ZFPM2):c.302-2A>CZFPM2-related disorder [RCV004746622]likely pathogenic8105561361105561361Humanname , trait , alternate_id
13626751CV523204single nucleotide variantNM_012082.4(ZFPM2):c.533-4A>T46,XY sex reversal 9 [RCV000655314]|not specified [RCV004702259]benign8105788714105788714Human1name , alternate_id
15159393CV689897single nucleotide variantNM_012082.4(ZFPM2):c.740-4G>Tnot provided [RCV000868816]likely benign8105798720105798720Humanname
15161367CV759610single nucleotide variantNM_012082.4(ZFPM2):c.301+9G>Tnot provided [RCV000925670]likely benign8105444390105444390Humanname
150492231CV1225434single nucleotide variantNM_012082.4(ZFPM2):c.532+98A>Tnot provided [RCV001618949]benign8105634455105634455Humanname
150499213CV1235694single nucleotide variantNM_012082.4(ZFPM2):c.301+74A>Gnot provided [RCV001656377]benign8105444455105444455Humanname
150446434CV1250665single nucleotide variantNM_012082.4(ZFPM2):c.964+79G>Anot provided [RCV001667170]benign8105799027105799027Humanname
151776423CV1449922single nucleotide variantNM_012082.4(ZFPM2):c.421-10C>A46,XY sex reversal 9 [RCV001864559]likely benign|uncertain significance8105634236105634236Human1name , alternate_id
152104995CV1536611single nucleotide variantNM_012082.4(ZFPM2):c.965-11T>C46,XY sex reversal 9 [RCV002173593]benign8105801036105801036Human1name , alternate_id
152065811CV1601527single nucleotide variantNM_012082.4(ZFPM2):c.740-19C>T46,XY sex reversal 9 [RCV002168637]likely benign8105798705105798705Human1name , alternate_id
152073037CV1657370single nucleotide variantNM_012082.4(ZFPM2):c.739+19G>A46,XY sex reversal 9 [RCV002210233]benign8105788943105788943Human1name , alternate_id
156214148CV1914222single nucleotide variantNM_012082.4(ZFPM2):c.420+16G>A46,XY sex reversal 9 [RCV002596187]likely benign8105561497105561497Human1name , alternate_id
11552237CV252998single nucleotide variantNM_012082.4(ZFPM2):c.302-13C>T46,XY sex reversal 9 [RCV002058228]|Tetralogy of Fallot [RCV002244630]|not provided [RCV001668526]|not specified [RCV000254101]benign8105561350105561350Human3name , alternate_id
405214624CV3124471single nucleotide variantNM_012082.4(ZFPM2):c.420+15C>T46,XY sex reversal 9 [RCV003823833]likely benign8105561496105561496Human1name , alternate_id
150447857CV1216176single nucleotide variantNM_012082.4(ZFPM2):c.420+210C>Tnot provided [RCV001611474]benign8105561691105561691Human1name
150447857CV1216176single nucleotide variantNM_012082.4(ZFPM2):c.420+210C>Tnot provided [RCV001611474]benign8105561691105561692Human1name
150491640CV1225336duplicationNM_012082.4(ZFPM2):c.-73_-65dupnot provided [RCV001618851]benign8105318866105318867Humanname
150430846CV1243498single nucleotide variantNM_012082.4(ZFPM2):c.964+306A>Gnot provided [RCV001663117]benign8105799254105799254Humanname
12883658CV396543microsatelliteNM_012082.4(ZFPM2):c.965-9TC[2]46,XY sex reversal 9 [RCV000462010]|not specified [RCV001821322]benign8105801038105801039Humanname , alternate_id
152129773CV1539019single nucleotide variantNM_012082.4(ZFPM2):c.532+28227T>C46,XY sex reversal 9 [RCV002217908]|not provided [RCV004713135]benign8105662584105662584Human4name , alternate_id
152129773CV1539019single nucleotide variantNM_012082.4(ZFPM2):c.532+28227T>C46,XY sex reversal 9 [RCV002217908]|not provided [RCV004713135]benign8105662584105662585Human4name , alternate_id
8649710CV126284single nucleotide variantNR_125796.1(ZFPM2-AS1):n.179+5795G>ALung cancer [RCV000106771]uncertain significance8106053286106053286Humanname
15124723CV683960single nucleotide variantNM_012082.4(ZFPM2):c.27C>G (p.Pro9=)not provided [RCV000862467]likely benign8105318968105318968Humanname
127255077CV1096623single nucleotide variantNM_012082.4(ZFPM2):c.72A>G (p.Glu24=)46,XY sex reversal 9 [RCV001426445]likely benign8105419175105419175Human1name , alternate_id
8649709CV126283single nucleotide variantNR_125796.1(ZFPM2-AS1):n.179+54493T>CLung cancer [RCV000106770]uncertain significance8106004588106004588Humanname
156371108CV2007757single nucleotide variantNM_012082.4(ZFPM2):c.78A>G (p.Glu26=)46,XY sex reversal 9 [RCV002676907]likely benign8105419181105419181Human1name , alternate_id
156094864CV2102857single nucleotide variantNM_012082.4(ZFPM2):c.90G>A (p.Glu30=)46,XY sex reversal 9 [RCV002913176]likely benign8105419193105419193Human1name , alternate_id
15147459CV687157single nucleotide variantNM_012082.4(ZFPM2):c.57C>T (p.Ala19=)46,XY sex reversal 9 [RCV002064536]likely benign8105419160105419160Human1name , alternate_id
127312161CV1155821single nucleotide variantNM_012082.4(ZFPM2):c.258A>G (p.Lys86=)46,XY sex reversal 9 [RCV001518853]|ZFPM2-related disorder [RCV003908856]benign|likely benign8105444338105444338Human1name , trait , alternate_id
152171821CV1597818single nucleotide variantNM_012082.4(ZFPM2):c.261G>T (p.Pro87=)46,XY sex reversal 9 [RCV002162245]|not provided [RCV004706278]likely benign8105444341105444341Human1name , alternate_id
156383433CV1870560single nucleotide variantNM_012082.4(ZFPM2):c.261G>A (p.Pro87=)46,XY sex reversal 9 [RCV003067364]likely benign8105444341105444341Human1name , alternate_id
405265129CV3202100single nucleotide variantNM_012082.4(ZFPM2):c.10C>T (p.Arg4Ter)ZFPM2-related disorder [RCV003897282]likely pathogenic8105318951105318951Humanname , trait , alternate_id
13626746CV523199single nucleotide variantNM_012082.4(ZFPM2):c.240G>T (p.Gly80=)46,XY sex reversal 9 [RCV000655309]likely benign|uncertain significance8105444320105444320Human1name , alternate_id
15126010CV683961single nucleotide variantNM_012082.4(ZFPM2):c.285C>T (p.Asp95=)46,XY sex reversal 9 [RCV000862684]|not provided [RCV004705802]likely benign8105444365105444365Human1name , alternate_id
126908181CV1045216single nucleotide variantNM_012082.4(ZFPM2):c.74A>G (p.Glu25Gly)46,XY sex reversal 9 [RCV001367676]uncertain significance8105419177105419177Human1name , alternate_id
127232083CV1096624single nucleotide variantNM_012082.4(ZFPM2):c.357A>G (p.Gln119=)46,XY sex reversal 9 [RCV001421142]likely benign8105561418105561418Human1name , alternate_id
150335300CV1171799duplicationNM_012082.4(ZFPM2):c.740-344_740-341dupnot provided [RCV001540493]benign8105798377105798378Humanname
150528627CV1305999single nucleotide variantNM_012082.4(ZFPM2):c.73G>A (p.Glu25Lys)not provided [RCV001755402]uncertain significance8105419176105419176Humanname
152126961CV1572012single nucleotide variantNM_012082.4(ZFPM2):c.582G>A (p.Glu194=)46,XY sex reversal 9 [RCV002217541]|ZFPM2-related disorder [RCV003968823]likely benign8105788767105788767Human1name , trait , alternate_id
152171710CV1575587single nucleotide variantNM_012082.4(ZFPM2):c.384G>A (p.Pro128=)46,XY sex reversal 9 [RCV002183591]likely benign8105561445105561445Human1name , alternate_id
152093112CV1593289single nucleotide variantNM_012082.4(ZFPM2):c.660T>C (p.Pro220=)46,XY sex reversal 9 [RCV002094464]likely benign8105788845105788845Human1name , alternate_id
155989323CV2026853single nucleotide variantNM_012082.4(ZFPM2):c.564C>T (p.Ala188=)46,XY sex reversal 9 [RCV002755680]likely benign8105788749105788749Human1name , alternate_id
156056485CV2102057single nucleotide variantNM_012082.4(ZFPM2):c.495G>A (p.Val165=)46,XY sex reversal 9 [RCV002886346]likely benign8105634320105634320Human1name , alternate_id
8597047CV21167single nucleotide variantNM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly)46,XY sex reversal 3 [RCV001007696]|46,XY sex reversal 9 [RCV000461090]|Diaphragmatic hernia 3 [RCV000172841]|Double outlet right ventricle [RCV000032713]|Tetralogy of Fallot [RCV000006502]|ZFPM2-related disorder [RCV003924804]|not provided [RCV001573801]|not sppathogenic|benign|likely benign8105419192105419192Human7name , trait , alternate_id
405250999CV3014342single nucleotide variantNM_012082.4(ZFPM2):c.873C>A (p.Ala291=)46,XY sex reversal 9 [RCV003747789]likely benign8105798857105798857Human1name , alternate_id
407459199CV3490199single nucleotide variantNM_012082.4(ZFPM2):c.58A>G (p.Ile20Val)Inborn genetic diseases [RCV004687072]uncertain significance8105419161105419161Human1name
596938548CV3549624single nucleotide variantNM_012082.4(ZFPM2):c.95C>T (p.Thr32Ile)not provided [RCV004812664]uncertain significance8105419198105419198Humanname
597971838CV3798920single nucleotide variantNM_012082.4(ZFPM2):c.996T>C (p.Gly332=)46,XY sex reversal 9 [RCV005142332]likely benign8105801078105801078Human1name , alternate_id
597854075CV3821624single nucleotide variantNM_012082.4(ZFPM2):c.813C>T (p.Tyr271=)46,XY sex reversal 9 [RCV005174102]likely benign8105798797105798797Human1name , alternate_id
12888739CV396256single nucleotide variantNM_012082.4(ZFPM2):c.822T>C (p.Ser274=)46,XY sex reversal 9 [RCV000471512]likely benign8105798806105798806Human1name , alternate_id
15135020CV687158single nucleotide variantNM_012082.4(ZFPM2):c.846G>A (p.Pro282=)46,XY sex reversal 9 [RCV000864237]likely benign8105798830105798830Human1name , alternate_id
126769108CV1028269single nucleotide variantNM_012082.4(ZFPM2):c.1866A>G (p.Gln622=)46,XY sex reversal 9 [RCV001343743]likely benign|uncertain significance8105801948105801948Human1name , alternate_id
126914757CV1045217single nucleotide variantNM_012082.4(ZFPM2):c.121C>G (p.Pro41Ala)46,XY sex reversal 9 [RCV001370583]|Inborn genetic diseases [RCV002548644]|not provided [RCV001573859]likely benign|conflicting interpretations of pathogenicity|uncertain significance8105419224105419224Human2name , alternate_id
127262060CV1074981single nucleotide variantNM_012082.4(ZFPM2):c.1161T>C (p.Pro387=)46,XY sex reversal 9 [RCV001402555]likely benign8105801243105801243Human1name , alternate_id
127276963CV1074982single nucleotide variantNM_012082.4(ZFPM2):c.1218C>T (p.Asp406=)46,XY sex reversal 9 [RCV001407477]likely benign8105801300105801300Human1name , alternate_id
127277420CV1096625single nucleotide variantNM_012082.4(ZFPM2):c.2532C>T (p.Thr844=)46,XY sex reversal 9 [RCV001444389]likely benign8105802614105802614Human1name , alternate_id
127255715CV1096626single nucleotide variantNM_012082.4(ZFPM2):c.2700C>T (p.Ser900=)46,XY sex reversal 9 [RCV001426663]likely benign8105802782105802782Human1name , alternate_id
127266282CV1096627single nucleotide variantNM_012082.4(ZFPM2):c.2712C>T (p.Ser904=)46,XY sex reversal 9 [RCV001429359]likely benign8105802794105802794Human1name , alternate_id
127304900CV1155822single nucleotide variantNM_012082.4(ZFPM2):c.2430A>T (p.Pro810=)46,XY sex reversal 9 [RCV001516080]|not specified [RCV001821823]benign|likely benign8105802512105802512Human1name , alternate_id
150520479CV1289686single nucleotide variantNM_012082.4(ZFPM2):c.192T>G (p.Cys64Trp)46,XY sex reversal 9 [RCV001730105]likely pathogenic8105419295105419295Human1name , alternate_id
151728015CV1495491single nucleotide variantNM_012082.4(ZFPM2):c.1620C>T (p.Tyr540=)46,XY sex reversal 9 [RCV002040912]likely benign8105801702105801702Human1name , alternate_id
152025597CV1561518single nucleotide variantNM_012082.4(ZFPM2):c.1710T>C (p.Tyr570=)46,XY sex reversal 9 [RCV002104264]likely benign8105801792105801792Human1name , alternate_id
152070452CV1581216single nucleotide variantNM_012082.4(ZFPM2):c.1494A>G (p.Leu498=)46,XY sex reversal 9 [RCV002091512]likely benign8105801576105801576Human1name , alternate_id
152074512CV1620408single nucleotide variantNM_012082.4(ZFPM2):c.1110C>T (p.Phe370=)46,XY sex reversal 9 [RCV002111913]likely benign8105801192105801192Human1name , alternate_id
152073008CV1637925single nucleotide variantNM_012082.4(ZFPM2):c.2688G>A (p.Pro896=)46,XY sex reversal 9 [RCV002192041]likely benign8105802770105802770Human1name , alternate_id
152066939CV1647097single nucleotide variantNM_012082.4(ZFPM2):c.1071T>C (p.His357=)46,XY sex reversal 9 [RCV002129101]likely benign8105801153105801153Human1name , alternate_id
152084908CV1663133single nucleotide variantNM_012082.4(ZFPM2):c.1894T>C (p.Leu632=)46,XY sex reversal 9 [RCV002171036]likely benign8105801976105801976Human1name , alternate_id
155957159CV1876878single nucleotide variantNM_012082.4(ZFPM2):c.1155T>C (p.His385=)46,XY sex reversal 9 [RCV003074479]likely benign8105801237105801237Human1name , alternate_id
156145140CV1922919single nucleotide variantNM_012082.4(ZFPM2):c.2355C>T (p.His785=)46,XY sex reversal 9 [RCV002623804]likely benign8105802437105802437Human1name , alternate_id
156205681CV2103699single nucleotide variantNM_012082.4(ZFPM2):c.2286C>T (p.Asp762=)46,XY sex reversal 9 [RCV002931854]likely benign8105802368105802368Human1name , alternate_id
155953739CV2123688single nucleotide variantNM_012082.4(ZFPM2):c.191G>A (p.Cys64Tyr)46,XY sex reversal 9 [RCV002972007]benign8105419294105419294Human1name , alternate_id
11349615CV240219single nucleotide variantNM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn)46,XY sex reversal 3 [RCV001007699]|46,XY sex reversal 9 [RCV000231192]|ZFPM2-related disorder [RCV003919971]|not provided [RCV003430790]benign|likely benign8105444372105444372Human2name , trait , alternate_id
329384450CV2472854single nucleotide variantNM_012082.4(ZFPM2):c.125T>G (p.Leu42Trp)not provided [RCV003214156]uncertain significance8105419228105419228Humanname
11550521CV253001single nucleotide variantNM_012082.4(ZFPM2):c.1362A>G (p.Pro454=)46,XY sex reversal 9 [RCV001515438]|not provided [RCV001683063]|not specified [RCV000251859]benign8105801444105801444Human1name , alternate_id
11544484CV253002single nucleotide variantNM_012082.4(ZFPM2):c.1776T>C (p.Pro592=)46,XY sex reversal 9 [RCV000475888]|not provided [RCV001651198]|not specified [RCV000243857]benign8105801858105801858Human1name , alternate_id
11547005CV253003single nucleotide variantNM_012082.4(ZFPM2):c.1851G>A (p.Glu617=)46,XY sex reversal 9 [RCV003748213]|not provided [RCV003422172]|not specified [RCV000247198]likely benign8105801933105801933Human1name , alternate_id
11544711CV253005single nucleotide variantNM_012082.4(ZFPM2):c.2385C>G (p.Val795=)46,XY sex reversal 9 [RCV000470649]|not provided [RCV001709546]|not specified [RCV000244154]benign8105802467105802467Human1name , alternate_id
11548460CV253006single nucleotide variantNM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=)46,XY sex reversal 9 [RCV000462912]|not provided [RCV001610682]|not specified [RCV000249120]benign8105803058105803058Human1name , alternate_id
401859985CV2765425single nucleotide variantNM_012082.4(ZFPM2):c.286G>T (p.Asp96Tyr)46,XY sex reversal 9 [RCV005104072]|Inborn genetic diseases [RCV003342092]uncertain significance8105444366105444366Human2name , alternate_id
401933528CV2800361single nucleotide variantNM_012082.4(ZFPM2):c.251C>T (p.Ser84Leu)ZFPM2-related disorder [RCV003410373]uncertain significance8105444331105444331Humanname , trait , alternate_id
405160767CV2860382single nucleotide variantNM_012082.4(ZFPM2):c.1038C>T (p.Ser346=)46,XY sex reversal 9 [RCV003586713]|ZFPM2-related disorder [RCV003901109]likely benign8105801120105801120Human1name , trait , alternate_id
405160010CV2866082single nucleotide variantNM_012082.4(ZFPM2):c.241G>A (p.Asp81Asn)46,XY sex reversal 9 [RCV003586651]uncertain significance8105444321105444321Human1name , alternate_id
405164498CV2879355single nucleotide variantNM_012082.4(ZFPM2):c.1492C>T (p.Leu498=)46,XY sex reversal 9 [RCV003586902]likely benign8105801574105801574Human1name , alternate_id
405165713CV2881881single nucleotide variantNM_012082.4(ZFPM2):c.2562C>T (p.His854=)46,XY sex reversal 9 [RCV003587127]likely benign8105802644105802644Human1name , alternate_id
405169568CV2899219single nucleotide variantNM_012082.4(ZFPM2):c.2910A>T (p.Gly970=)46,XY sex reversal 9 [RCV003587443]likely benign8105802992105802992Human1name , alternate_id
405102072CV2950150single nucleotide variantNM_012082.4(ZFPM2):c.1947A>G (p.Gln649=)46,XY sex reversal 9 [RCV003749174]likely benign8105802029105802029Human1name , alternate_id
405252881CV3043992single nucleotide variantNM_012082.4(ZFPM2):c.2328C>T (p.Pro776=)46,XY sex reversal 9 [RCV003748668]likely benign8105802410105802410Human1name , alternate_id
405253197CV3056543single nucleotide variantNM_012082.4(ZFPM2):c.1254C>T (p.Ser418=)46,XY sex reversal 9 [RCV003748833]likely benign8105801336105801336Human1name , alternate_id
405289038CV3193960single nucleotide variantNM_012082.4(ZFPM2):c.1797T>C (p.Thr599=)ZFPM2-related disorder [RCV003983463]likely benign8105801879105801879Humanname , trait , alternate_id
405272863CV3197543single nucleotide variantNM_012082.4(ZFPM2):c.280A>G (p.Thr94Ala)46,XY sex reversal 9 [RCV005064722]|Inborn genetic diseases [RCV004968561]|ZFPM2-related disorder [RCV003901512]likely benign|uncertain significance8105444360105444360Human2name , trait , alternate_id
408381637CV3523929single nucleotide variantNM_012082.4(ZFPM2):c.134G>A (p.Ser45Asn)not provided [RCV004766327]uncertain significance8105419237105419237Humanname
597625799CV3624755single nucleotide variantNM_012082.4(ZFPM2):c.229G>C (p.Glu77Gln)Inborn genetic diseases [RCV004964777]uncertain significance8105444309105444309Human1name
597625811CV3624763single nucleotide variantNM_012082.4(ZFPM2):c.286G>C (p.Asp96His)Inborn genetic diseases [RCV004964784]uncertain significance8105444366105444366Human1name
597963808CV3792041single nucleotide variantNM_012082.4(ZFPM2):c.2934C>T (p.Ala978=)46,XY sex reversal 9 [RCV005139597]likely benign8105803016105803016Human1name , alternate_id
597955692CV3796270single nucleotide variantNM_012082.4(ZFPM2):c.2487C>A (p.Pro829=)46,XY sex reversal 9 [RCV005137087]likely benign8105802569105802569Human1name , alternate_id
597867557CV3838721single nucleotide variantNM_012082.4(ZFPM2):c.139T>A (p.Ser47Thr)46,XY sex reversal 9 [RCV005176017]uncertain significance8105419242105419242Human1name , alternate_id
597889947CV3839671single nucleotide variantNM_012082.4(ZFPM2):c.1731G>A (p.Gln577=)46,XY sex reversal 9 [RCV005179563]likely benign8105801813105801813Human1name , alternate_id
597919709CV3851911single nucleotide variantNM_012082.4(ZFPM2):c.2373T>C (p.Phe791=)46,XY sex reversal 9 [RCV005204891]likely benign8105802455105802455Human1name , alternate_id
12881375CV396260single nucleotide variantNM_012082.4(ZFPM2):c.1164C>T (p.Ser388=)46,XY sex reversal 9 [RCV002063675]likely benign8105801246105801246Human1name , alternate_id
598190181CV4008800single nucleotide variantNM_012082.4(ZFPM2):c.235G>C (p.Asp79His)Diaphragmatic hernia 3 [RCV005396299]uncertain significance8105444315105444315Human2name , alternate_id
13626749CV523429single nucleotide variantNM_012082.4(ZFPM2):c.1578G>T (p.Arg526=)46,XY sex reversal 9 [RCV000655312]|not provided [RCV003432714]benign|likely benign8105801660105801660Human1name , alternate_id
14696233CV621896single nucleotide variantNM_012082.4(ZFPM2):c.130G>A (p.Glu44Lys)46,XY sex reversal 9 [RCV003748282]|Diaphragmatic hernia 3 [RCV000782368]|not provided [RCV005243355]likely benign|uncertain significance8105419233105419233Human2name , alternate_id
15124122CV683964single nucleotide variantNM_012082.4(ZFPM2):c.1569G>C (p.Leu523=)46,XY sex reversal 9 [RCV000862357]benign8105801651105801651Human1name , alternate_id
15121642CV683965single nucleotide variantNM_012082.4(ZFPM2):c.2097C>T (p.His699=)46,XY sex reversal 9 [RCV000861906]benign8105802179105802179Human1name , alternate_id
15133922CV683966single nucleotide variantNM_012082.4(ZFPM2):c.2490A>T (p.Ile830=)46,XY sex reversal 9 [RCV001509753]|ZFPM2-related disorder [RCV003955613]|not provided [RCV004705809]|not specified [RCV001816959]benign|likely benign8105802572105802572Human1name , trait , alternate_id
15103624CV687159single nucleotide variantNM_012082.4(ZFPM2):c.1014C>T (p.Thr338=)46,XY sex reversal 9 [RCV002064655]likely benign8105801096105801096Human1name , alternate_id
15097655CV687160single nucleotide variantNM_012082.4(ZFPM2):c.1641G>A (p.Gly547=)46,XY sex reversal 9 [RCV001462541]likely benign8105801723105801723Human1name , alternate_id
15142185CV687161single nucleotide variantNM_012082.4(ZFPM2):c.2262A>G (p.Pro754=)46,XY sex reversal 9 [RCV002062263]likely benign8105802344105802344Human1name , alternate_id
15162202CV687162single nucleotide variantNM_012082.4(ZFPM2):c.2616C>T (p.His872=)not provided [RCV000869376]likely benign8105802698105802698Humanname
15168871CV722788single nucleotide variantNM_012082.4(ZFPM2):c.1005A>G (p.Leu335=)46,XY sex reversal 9 [RCV002539312]likely benign8105801087105801087Human1name , alternate_id
15107495CV782981single nucleotide variantNM_012082.4(ZFPM2):c.2718T>C (p.Asp906=)46,XY sex reversal 9 [RCV001402453]likely benign8105802800105802800Human1name , alternate_id
25318148CV805555deletionNM_012082.4(ZFPM2):c.993del (p.Gly332fs)not provided [RCV001008444]likely pathogenic8105801075105801075Humanname
8632768CV87983single nucleotide variantNM_012082.3(ZFPM2):c.1113C>T (p.Gly371=)Malignant melanoma [RCV000068075]not provided8105801195105801195Humanname
38461071CV919129single nucleotide variantNM_012082.4(ZFPM2):c.2238A>G (p.Leu746=)Tetralogy of Fallot [RCV001197231]uncertain significance8105802320105802320Human2name
127259090CV1074980single nucleotide variantNM_012082.4(ZFPM2):c.436G>C (p.Val146Leu)46,XY sex reversal 9 [RCV001419691]|Inborn genetic diseases [RCV002554080]likely benign|uncertain significance8105634261105634261Human2name , alternate_id
127239649CV1074983single nucleotide variantNM_012082.4(ZFPM2):c.3060C>T (p.Ser1020=)46,XY sex reversal 9 [RCV001415403]likely benign8105803142105803142Human1name , alternate_id
127277318CV1074985single nucleotide variantNM_012082.4(ZFPM2):c.3438A>G (p.Ala1146=)46,XY sex reversal 9 [RCV001407691]likely benign8105803520105803520Human1name , alternate_id
150528785CV1306089single nucleotide variantNM_012082.4(ZFPM2):c.383C>T (p.Pro128Leu)Inborn genetic diseases [RCV004968276]|not provided [RCV001755493]uncertain significance8105561444105561444Human1name
150552795CV1307272single nucleotide variantNM_012082.4(ZFPM2):c.625G>A (p.Ala209Thr)not provided [RCV001768384]uncertain significance8105788810105788810Humanname
150533258CV1311090single nucleotide variantNM_012082.4(ZFPM2):c.518T>C (p.Ile173Thr)not provided [RCV001776825]uncertain significance8105634343105634343Humanname
151783181CV1350146single nucleotide variantNM_012082.4(ZFPM2):c.760T>G (p.Ser254Ala)46,XY sex reversal 9 [RCV001989321]uncertain significance8105798744105798744Human1name , alternate_id
151771180CV1410869single nucleotide variantNM_012082.4(ZFPM2):c.322A>G (p.Lys108Glu)46,XY sex reversal 9 [RCV001971197]|Inborn genetic diseases [RCV003289331]uncertain significance8105561383105561383Human2name , alternate_id
151825442CV1429531single nucleotide variantNM_012082.4(ZFPM2):c.931C>T (p.Arg311Ter)46,XY sex reversal 9 [RCV001993188]pathogenic8105798915105798915Human1name , alternate_id
151862939CV1454286single nucleotide variantNM_012082.4(ZFPM2):c.593T>C (p.Phe198Ser)46,XY sex reversal 9 [RCV001938796]uncertain significance8105788778105788778Human1name , alternate_id
151717059CV1513184single nucleotide variantNM_012082.4(ZFPM2):c.442A>G (p.Met148Val)46,XY sex reversal 9 [RCV001890492]|not provided [RCV002292445]likely benign|uncertain significance8105634267105634267Human1name , alternate_id
152161594CV1555455single nucleotide variantNM_012082.4(ZFPM2):c.3231G>A (p.Ser1077=)46,XY sex reversal 9 [RCV002103900]likely benign8105803313105803313Human1name , alternate_id
9589694CV166433single nucleotide variantNM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln)46,XY sex reversal 9 [RCV000144725]pathogenic|not provided8105798763105798763Human1name , alternate_id
155265522CV1704881single nucleotide variantNM_012082.4(ZFPM2):c.349C>T (p.Arg117Ter)Diaphragmatic hernia 3 [RCV002285126]pathogenic8105561410105561410Human1name
156347422CV1868466single nucleotide variantNM_012082.4(ZFPM2):c.845C>T (p.Pro282Leu)46,XY sex reversal 9 [RCV003064592]|Inborn genetic diseases [RCV004070159]uncertain significance8105798829105798829Human2name , alternate_id
155965761CV1892044single nucleotide variantNM_012082.4(ZFPM2):c.945G>T (p.Met315Ile)46,XY sex reversal 9 [RCV003074923]uncertain significance8105798929105798929Human1name , alternate_id
156417643CV1967085single nucleotide variantNM_012082.4(ZFPM2):c.991C>T (p.Pro331Ser)46,XY sex reversal 9 [RCV002590294]uncertain significance8105801073105801073Human1name , alternate_id
156387384CV1995898single nucleotide variantNM_012082.4(ZFPM2):c.3213C>T (p.Asp1071=)46,XY sex reversal 9 [RCV002654087]likely benign8105803295105803295Human1name , alternate_id
156026961CV2039647single nucleotide variantNM_012082.4(ZFPM2):c.3303G>A (p.Leu1101=)46,XY sex reversal 9 [RCV002780940]likely benign8105803385105803385Human1name , alternate_id
156206756CV2092763single nucleotide variantNM_012082.4(ZFPM2):c.3393T>G (p.Leu1131=)46,XY sex reversal 9 [RCV002917998]benign8105803475105803475Human1name , alternate_id
8597048CV21168single nucleotide variantNM_012082.4(ZFPM2):c.334C>T (p.Arg112Ter)Diaphragmatic hernia 3 [RCV000006503]|not provided [RCV001781192]pathogenic|likely pathogenic8105561395105561395Human1name
156357011CV2126138single nucleotide variantNM_012082.4(ZFPM2):c.761C>T (p.Ser254Phe)46,XY sex reversal 9 [RCV002966732]uncertain significance8105798745105798745Human1name , alternate_id
156005840CV2290412single nucleotide variantNM_012082.4(ZFPM2):c.562G>C (p.Ala188Pro)Inborn genetic diseases [RCV002883662]uncertain significance8105788747105788747Human1name
243062125CV2414331single nucleotide variantNM_012082.4(ZFPM2):c.848T>C (p.Val283Ala)not provided [RCV003139400]uncertain significance8105798832105798832Humanname
243062126CV2414332single nucleotide variantNM_012082.4(ZFPM2):c.665G>A (p.Arg222His)not provided [RCV003139401]uncertain significance8105788850105788850Humanname
243050048CV2417314single nucleotide variantNM_012082.4(ZFPM2):c.416C>A (p.Ser139Tyr)not provided [RCV003152186]uncertain significance8105561477105561477Humanname
11548656CV252999single nucleotide variantNM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr)46,XY sex reversal 3 [RCV001007700]|46,XY sex reversal 9 [RCV000559499]|not provided [RCV003311733]|not specified [RCV000249373]benign|likely benign8105788814105788814Human2name , alternate_id
11544902CV253007single nucleotide variantNM_012082.4(ZFPM2):c.3207C>T (p.His1069=)46,XY sex reversal 9 [RCV001515439]|not provided [RCV004712204]|not specified [RCV000244414]benign8105803289105803289Human1name , alternate_id
329847980CV2667599single nucleotide variantNM_012082.4(ZFPM2):c.423G>T (p.Lys141Asn)not provided [RCV003229166]uncertain significance8105634248105634248Humanname
401773337CV2716531single nucleotide variantNM_012082.4(ZFPM2):c.917G>A (p.Ser306Asn)Inborn genetic diseases [RCV003304945]uncertain significance8105798901105798901Human1name
401927325CV2796899single nucleotide variantNM_012082.4(ZFPM2):c.963T>G (p.Ser321Arg)ZFPM2-related disorder [RCV003406161]uncertain significance8105798947105798947Humanname , trait , alternate_id
401936155CV2802735single nucleotide variantNM_012082.4(ZFPM2):c.662C>T (p.Ala221Val)ZFPM2-related disorder [RCV003414126]uncertain significance8105788847105788847Humanname , trait , alternate_id
405162878CV2872211single nucleotide variantNM_012082.4(ZFPM2):c.3366G>C (p.Arg1122=)46,XY sex reversal 9 [RCV003586883]likely benign8105803448105803448Human1name , alternate_id
405164447CV2879363single nucleotide variantNM_012082.4(ZFPM2):c.860A>G (p.Asn287Ser)46,XY sex reversal 9 [RCV003586903]uncertain significance8105798844105798844Human1name , alternate_id
405168685CV2894772single nucleotide variantNM_012082.4(ZFPM2):c.842C>G (p.Ala281Gly)46,XY sex reversal 9 [RCV003587389]uncertain significance8105798826105798826Human1name , alternate_id
405102026CV2949622single nucleotide variantNM_012082.4(ZFPM2):c.477T>A (p.Asp159Glu)46,XY sex reversal 9 [RCV003749153]uncertain significance8105634302105634302Human1name , alternate_id
405101993CV3070899single nucleotide variantNM_012082.4(ZFPM2):c.959A>G (p.His320Arg)46,XY sex reversal 9 [RCV003749135]uncertain significance8105798943105798943Human1name , alternate_id
405103604CV3071798single nucleotide variantNM_012082.4(ZFPM2):c.787C>T (p.Arg263Trp)46,XY sex reversal 9 [RCV003749710]uncertain significance8105798771105798771Human1name , alternate_id
405669568CV3360397single nucleotide variantNM_012082.4(ZFPM2):c.333A>C (p.Glu111Asp)Inborn genetic diseases [RCV004486204]uncertain significance8105561394105561394Human1name
405669575CV3360398single nucleotide variantNM_012082.4(ZFPM2):c.354G>T (p.Gln118His)Inborn genetic diseases [RCV004486205]uncertain significance8105561415105561415Human1name
405669585CV3360400single nucleotide variantNM_012082.4(ZFPM2):c.358C>T (p.Leu120Phe)Inborn genetic diseases [RCV004486207]uncertain significance8105561419105561419Human1name
405669591CV3360401single nucleotide variantNM_012082.4(ZFPM2):c.778C>T (p.Arg260Trp)Inborn genetic diseases [RCV004486208]uncertain significance8105798762105798762Human1name
407459209CV3490202single nucleotide variantNM_012082.4(ZFPM2):c.434A>C (p.Gln145Pro)Inborn genetic diseases [RCV004687075]uncertain significance8105634259105634259Human1name
407459213CV3490204single nucleotide variantNM_012082.4(ZFPM2):c.488A>C (p.Gln163Pro)Inborn genetic diseases [RCV004687077]uncertain significance8105634313105634313Human1name
408391641CV3523293single nucleotide variantNM_012082.4(ZFPM2):c.563C>T (p.Ala188Val)not provided [RCV004770666]uncertain significance8105788748105788748Humanname
408387378CV3527040single nucleotide variantNM_012082.4(ZFPM2):c.673G>C (p.Asp225His)not provided [RCV004773342]uncertain significance8105788858105788858Humanname
597625808CV3624761single nucleotide variantNM_012082.4(ZFPM2):c.439C>T (p.Pro147Ser)Inborn genetic diseases [RCV004964782]uncertain significance8105634264105634264Human1name
597934830CV3845129single nucleotide variantNM_012082.4(ZFPM2):c.478G>A (p.Val160Met)46,XY sex reversal 9 [RCV005186442]uncertain significance8105634303105634303Human1name , alternate_id
597886681CV3855194single nucleotide variantNM_012082.4(ZFPM2):c.490G>A (p.Gly164Arg)46,XY sex reversal 9 [RCV005199839]uncertain significance8105634315105634315Human1name , alternate_id
597892204CV3856662single nucleotide variantNM_012082.4(ZFPM2):c.452C>T (p.Thr151Ile)46,XY sex reversal 9 [RCV005200728]uncertain significance8105634277105634277Human1name , alternate_id
597931970CV3863313single nucleotide variantNM_012082.4(ZFPM2):c.445G>A (p.Val149Met)46,XY sex reversal 9 [RCV005206839]uncertain significance8105634270105634270Human1name , alternate_id
598175543CV3891008single nucleotide variantNM_012082.4(ZFPM2):c.541C>T (p.Leu181Phe)not provided [RCV005251861]uncertain significance8105788726105788726Humanname
12887792CV396544single nucleotide variantNM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=)46,XY sex reversal 9 [RCV000469703]|not provided [RCV004712860]|not specified [RCV003230508]benign8105803451105803451Human1name , alternate_id
598190187CV4008801single nucleotide variantNM_012082.4(ZFPM2):c.350G>A (p.Arg117Gln)Diaphragmatic hernia 3 [RCV005396300]uncertain significance8105561411105561411Human2name , alternate_id
598190194CV4008802single nucleotide variantNM_012082.4(ZFPM2):c.931C>G (p.Arg311Gly)Diaphragmatic hernia 3 [RCV005396301]uncertain significance8105798915105798915Human2name , alternate_id
617149659CV4017616single nucleotide variantNM_012082.4(ZFPM2):c.830A>T (p.Gln277Leu)not provided [RCV005417274]uncertain significance8105798814105798814Humanname
13483264CV457735single nucleotide variantNM_012082.4(ZFPM2):c.364G>T (p.Val122Leu)46,XY sex reversal 9 [RCV000529779]|not provided [RCV003139869]uncertain significance8105561425105561425Human1name , alternate_id
13471344CV457765single nucleotide variantNM_012082.4(ZFPM2):c.444G>C (p.Met148Ile)46,XY sex reversal 9 [RCV000546799]uncertain significance8105634269105634269Human1name , alternate_id
13470479CV457768single nucleotide variantNM_012082.4(ZFPM2):c.3078G>A (p.Ala1026=)46,XY sex reversal 9 [RCV000546178]|not provided [RCV004712889]benign8105803160105803160Human1name , alternate_id
8604267CV48116single nucleotide variantNM_012082.4(ZFPM2):c.681T>G (p.Ile227Met)Double outlet right ventricle [RCV000032714]pathogenic8105788866105788866Human2name
15126379CV683962single nucleotide variantNM_012082.4(ZFPM2):c.679A>G (p.Ile227Val)46,XY sex reversal 9 [RCV000862743]|ZFPM2-related disorder [RCV004745621]|not provided [RCV001766772]likely benign|uncertain significance8105788864105788864Human1name , trait , alternate_id
26922948CV834032single nucleotide variantNM_012082.4(ZFPM2):c.617T>C (p.Leu206Pro)46,XY sex reversal 9 [RCV001063029]|Inborn genetic diseases [RCV003160513]uncertain significance8105788802105788802Human2name , alternate_id
8632770CV87985single nucleotide variantNM_012082.3(ZFPM2):c.3054G>A (p.Gln1018=)Malignant melanoma [RCV000068077]not provided8105803136105803136Humanname
38462542CV934062single nucleotide variantNM_012082.4(ZFPM2):c.463A>G (p.Lys155Glu)46,XY sex reversal 9 [RCV001212216]|Inborn genetic diseases [RCV002562381]uncertain significance8105634288105634288Human2name , alternate_id
126747354CV992539single nucleotide variantNM_012082.4(ZFPM2):c.664C>T (p.Arg222Cys)46,XY sex reversal 9 [RCV001306233]uncertain significance8105788849105788849Human1name , alternate_id
126743842CV1007732single nucleotide variantNM_012082.4(ZFPM2):c.2593A>G (p.Lys865Glu)46,XY sex reversal 9 [RCV001325678]uncertain significance8105802675105802675Human1name , alternate_id
126745911CV1007733single nucleotide variantNM_012082.4(ZFPM2):c.2633C>T (p.Pro878Leu)46,XY sex reversal 9 [RCV001325942]uncertain significance8105802715105802715Human1name , alternate_id
126759111CV1007734single nucleotide variantNM_012082.4(ZFPM2):c.2903A>G (p.Tyr968Cys)46,XY sex reversal 9 [RCV001317970]uncertain significance8105802985105802985Human1name , alternate_id
126726006CV1016983single nucleotide variantNM_012082.4(ZFPM2):c.1046A>C (p.Asn349Thr)Tetralogy of Fallot [RCV001331729]uncertain significance8105801128105801128Human2name
126726009CV1016984single nucleotide variantNM_012082.4(ZFPM2):c.2201G>A (p.Arg734His)Tetralogy of Fallot [RCV001331730]uncertain significance8105802283105802283Human2name
126744002CV1028268single nucleotide variantNM_012082.4(ZFPM2):c.1721G>A (p.Arg574Gln)46,XY sex reversal 9 [RCV001351220]uncertain significance8105801803105801803Human1name , alternate_id
126922152CV1045218single nucleotide variantNM_012082.4(ZFPM2):c.2230A>T (p.Met744Leu)46,XY sex reversal 9 [RCV001364333]uncertain significance8105802312105802312Human1name , alternate_id
126915873CV1045219single nucleotide variantNM_012082.4(ZFPM2):c.2295C>A (p.Asn765Lys)46,XY sex reversal 9 [RCV001371173]uncertain significance8105802377105802377Human1name , alternate_id
127333886CV1139083single nucleotide variantNM_012082.4(ZFPM2):c.1160C>G (p.Pro387Arg)46,XY sex reversal 9 [RCV001490441]|Inborn genetic diseases [RCV004037306]|not specified [RCV001820190]likely benign|uncertain significance8105801242105801242Human2name , alternate_id
150427579CV1187300single nucleotide variantNM_012082.4(ZFPM2):c.2537C>T (p.Ser846Phe)not provided [RCV001561110]uncertain significance8105802619105802619Humanname
150552610CV1306469single nucleotide variantNM_012082.4(ZFPM2):c.2482G>A (p.Val828Met)not provided [RCV001768091]uncertain significance8105802564105802564Humanname
150552758CV1307231single nucleotide variantNM_012082.4(ZFPM2):c.2705G>A (p.Arg902Gln)not provided [RCV001768343]uncertain significance8105802787105802787Humanname
150528931CV1307443single nucleotide variantNM_012082.4(ZFPM2):c.2357C>T (p.Pro786Leu)not provided [RCV001755580]uncertain significance8105802439105802439Humanname
150552687CV1308423single nucleotide variantNM_012082.4(ZFPM2):c.1450G>A (p.Val484Ile)not provided [RCV001768263]uncertain significance8105801532105801532Humanname
150533348CV1311128single nucleotide variantNM_012082.4(ZFPM2):c.2093G>A (p.Arg698Gln)not provided [RCV001776863]uncertain significance8105802175105802175Humanname
151748657CV1383284single nucleotide variantNM_012082.4(ZFPM2):c.1639G>A (p.Gly547Arg)46,XY sex reversal 9 [RCV001947900]uncertain significance8105801721105801721Human1name , alternate_id
151712820CV1423404single nucleotide variantNM_012082.4(ZFPM2):c.1693G>T (p.Val565Leu)46,XY sex reversal 9 [RCV002002316]uncertain significance8105801775105801775Human1name , alternate_id
151850376CV1450263single nucleotide variantNM_012082.4(ZFPM2):c.2545A>G (p.Arg849Gly)46,XY sex reversal 9 [RCV001922697]uncertain significance8105802627105802627Human1name , alternate_id
151751633CV1464214single nucleotide variantNM_012082.4(ZFPM2):c.2762A>G (p.Asn921Ser)46,XY sex reversal 9 [RCV001948193]uncertain significance8105802844105802844Human1name , alternate_id
151834011CV1479245single nucleotide variantNM_012082.4(ZFPM2):c.2759G>A (p.Gly920Glu)46,XY sex reversal 9 [RCV002051007]uncertain significance8105802841105802841Human1name , alternate_id
151811258CV1506683single nucleotide variantNM_012082.4(ZFPM2):c.2393A>G (p.His798Arg)46,XY sex reversal 9 [RCV001918632]uncertain significance8105802475105802475Human1name , alternate_id
151866217CV1508212single nucleotide variantNM_012082.4(ZFPM2):c.2534C>T (p.Thr845Met)46,XY sex reversal 9 [RCV001997761]uncertain significance8105802616105802616Human1name , alternate_id
152114918CV1659714single nucleotide variantNM_012082.4(ZFPM2):c.2963A>C (p.Lys988Thr)46,XY sex reversal 9 [RCV002080760]|Diaphragmatic hernia 3 [RCV002507931]|ZFPM2-related disorder [RCV003950984]likely benign8105803045105803045Human4name , trait , alternate_id
9589693CV166432single nucleotide variantNM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg)46,XY sex reversal 9 [RCV000144724]pathogenic8105801288105801288Human1name , alternate_id
153349770CV1693944single nucleotide variantNM_012082.4(ZFPM2):c.1663A>C (p.Ile555Leu)not provided [RCV002276189]uncertain significance8105801745105801745Humanname
155268494CV1705379single nucleotide variantNM_012082.4(ZFPM2):c.2499C>A (p.Ser833Arg)not provided [RCV002285984]uncertain significance8105802581105802581Humanname
156219141CV1879121single nucleotide variantNM_012082.4(ZFPM2):c.1592G>A (p.Gly531Asp)46,XY sex reversal 9 [RCV003058855]|Inborn genetic diseases [RCV003058856]uncertain significance8105801674105801674Human2name , alternate_id
156419480CV1967201single nucleotide variantNM_012082.4(ZFPM2):c.2207G>A (p.Arg736His)46,XY sex reversal 9 [RCV002612717]uncertain significance8105802289105802289Human1name , alternate_id
8597046CV21166single nucleotide variantNM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly)46,XY sex reversal 9 [RCV000467901]|Diaphragmatic hernia 3 [RCV005394127]|Tetralogy of Fallot [RCV000006501]|not provided [RCV004711996]|not specified [RCV003230349]pathogenic|benign|likely benign8105802051105802051Human4name , alternate_id
8597049CV21169single nucleotide variantNM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu)46,XY sex reversal 3 [RCV001007705]|46,XY sex reversal 9 [RCV000861889]|Diaphragmatic hernia 3 [RCV000006504]|Diaphragmatic hernia 3 [RCV005394128]|Double outlet right ventricle [RCV000032715]|ZFPM2-related disorder [RCV003914814]|not provided [RCV001529320]|notpathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance8105802189105802189Human7name , trait , alternate_id
8597050CV21170single nucleotide variantNM_012082.4(ZFPM2):c.2527A>G (p.Thr843Ala)Diaphragmatic hernia 3 [RCV000006505]pathogenic8105802609105802609Human1name
156221708CV2124392single nucleotide variantNM_012082.4(ZFPM2):c.2411C>T (p.Thr804Met)46,XY sex reversal 9 [RCV002958166]|Inborn genetic diseases [RCV004067308]uncertain significance8105802493105802493Human2name , alternate_id
156259336CV2159407single nucleotide variantNM_012082.4(ZFPM2):c.2493T>G (p.Asp831Glu)46,XY sex reversal 9 [RCV003026606]uncertain significance8105802575105802575Human1name , alternate_id
156228541CV2176601single nucleotide variantNM_012082.4(ZFPM2):c.1727A>G (p.Gln576Arg)46,XY sex reversal 9 [RCV003059215]uncertain significance8105801809105801809Human1name , alternate_id
156183595CV2243303single nucleotide variantNM_012082.4(ZFPM2):c.2674G>A (p.Gly892Ser)Inborn genetic diseases [RCV002802427]likely benign8105802756105802756Human1name
156368197CV2266957single nucleotide variantNM_012082.4(ZFPM2):c.2914A>G (p.Ile972Val)Inborn genetic diseases [RCV002813876]uncertain significance8105802996105802996Human1name
156184122CV2292209single nucleotide variantNM_012082.4(ZFPM2):c.1349C>T (p.Thr450Met)46,XY sex reversal 9 [RCV003748454]|Inborn genetic diseases [RCV002873847]|not provided [RCV003140177]uncertain significance8105801431105801431Human2name , alternate_id
156080646CV2292712single nucleotide variantNM_012082.4(ZFPM2):c.1931A>C (p.Lys644Thr)Inborn genetic diseases [RCV002869236]uncertain significance8105802013105802013Human1name
156097420CV2310265single nucleotide variantNM_012082.4(ZFPM2):c.1975A>G (p.Asn659Asp)Inborn genetic diseases [RCV002888413]uncertain significance8105802057105802057Human1name
156173949CV2326897single nucleotide variantNM_012082.4(ZFPM2):c.2161T>C (p.Ser721Pro)Inborn genetic diseases [RCV002929998]uncertain significance8105802243105802243Human1name
156087141CV2336911single nucleotide variantNM_012082.4(ZFPM2):c.2783A>G (p.Asn928Ser)Inborn genetic diseases [RCV002952149]uncertain significance8105802865105802865Human1name
156052529CV2388468single nucleotide variantNM_012082.4(ZFPM2):c.1195C>T (p.His399Tyr)Inborn genetic diseases [RCV002759432]|ZFPM2-related disorder [RCV003963791]uncertain significance8105801277105801277Human1name , trait , alternate_id
11347819CV240220single nucleotide variantNM_012082.4(ZFPM2):c.2096A>C (p.His699Pro)46,XY sex reversal 9 [RCV000233426]uncertain significance8105802178105802178Human1name , alternate_id
11348589CV240221single nucleotide variantNM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu)46,XY sex reversal 9 [RCV000227236]|not provided [RCV004712181]|not specified [RCV001820747]benign|likely benign8105802747105802747Human1name , alternate_id
243059117CV2415594single nucleotide variantNM_012082.4(ZFPM2):c.2164G>C (p.Ala722Pro)Diaphragmatic hernia 3 [RCV003148194]uncertain significance8105802246105802246Human1name
243050262CV2417394single nucleotide variantNM_012082.4(ZFPM2):c.1655A>G (p.Glu552Gly)not provided [RCV003152266]uncertain significance8105801737105801737Humanname
329370828CV2461813single nucleotide variantNM_012082.4(ZFPM2):c.1237G>A (p.Asp413Asn)Inborn genetic diseases [RCV003209497]uncertain significance8105801319105801319Human1name
11546774CV253000single nucleotide variantNM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly)46,XY sex reversal 9 [RCV001510929]|not provided [RCV001683062]|not specified [RCV000246895]benign|likely benign8105801290105801290Human1name , alternate_id
11550756CV253004single nucleotide variantNM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp)46,XY sex reversal 9 [RCV001515297]|not provided [RCV001668525]|not specified [RCV000252167]benign|likely benign8105802428105802428Human1name , alternate_id
329952537CV2671822single nucleotide variantNM_012082.4(ZFPM2):c.1838C>T (p.Ser613Phe)not provided [RCV003237219]uncertain significance8105801920105801920Humanname
401757598CV2675402single nucleotide variantNM_012082.4(ZFPM2):c.2084C>T (p.Thr695Ile)Inborn genetic diseases [RCV003279431]uncertain significance8105802166105802166Human1name
401722851CV2677118single nucleotide variantNM_012082.4(ZFPM2):c.1975A>C (p.Asn659His)Inborn genetic diseases [RCV003244987]uncertain significance8105802057105802057Human1name
401737163CV2699746single nucleotide variantNM_012082.4(ZFPM2):c.2049C>G (p.Asp683Glu)Inborn genetic diseases [RCV003291488]uncertain significance8105802131105802131Human1name
401733802CV2713222single nucleotide variantNM_012082.4(ZFPM2):c.2171A>G (p.Asn724Ser)Inborn genetic diseases [RCV003272433]uncertain significance8105802253105802253Human1name
401722079CV2737618single nucleotide variantNM_012082.4(ZFPM2):c.1579C>T (p.Arg527Ter)not provided [RCV003314790]likely pathogenic8105801661105801661Humanname
401895714CV2771663single nucleotide variantNM_012082.4(ZFPM2):c.2733A>C (p.Arg911Ser)Inborn genetic diseases [RCV003373339]uncertain significance8105802815105802815Human1name
401920153CV2796454single nucleotide variantNM_012082.4(ZFPM2):c.1100A>G (p.His367Arg)ZFPM2-related disorder [RCV003402490]uncertain significance8105801182105801182Humanname , trait , alternate_id
401913559CV2801826single nucleotide variantNM_012082.4(ZFPM2):c.2159G>A (p.Arg720Lys)ZFPM2-related disorder [RCV003400164]uncertain significance8105802241105802241Humanname , trait , alternate_id
401934724CV2802791single nucleotide variantNM_012082.4(ZFPM2):c.1226A>G (p.Gln409Arg)ZFPM2-related disorder [RCV003412151]uncertain significance8105801308105801308Humanname , trait , alternate_id
401924103CV2821228single nucleotide variantNM_012082.4(ZFPM2):c.2638A>G (p.Thr880Ala)not provided [RCV003435587]uncertain significance8105802720105802720Humanname
401917263CV2829759single nucleotide variantNM_012082.4(ZFPM2):c.2168C>A (p.Ser723Tyr)not provided [RCV003443803]uncertain significance8105802250105802250Humanname
401944282CV2840677single nucleotide variantNM_012082.4(ZFPM2):c.1756A>G (p.Ser586Gly)not provided [RCV003457163]likely benign8105801838105801838Humanname
405164385CV2870016single nucleotide variantNM_012082.4(ZFPM2):c.1183A>G (p.Ser395Gly)46,XY sex reversal 9 [RCV003587007]|Inborn genetic diseases [RCV004369114]uncertain significance8105801265105801265Human2name , alternate_id
405168214CV2894012single nucleotide variantNM_012082.4(ZFPM2):c.1456C>T (p.Pro486Ser)46,XY sex reversal 9 [RCV003587346]uncertain significance8105801538105801538Human1name , alternate_id
405176131CV2927482single nucleotide variantNM_012082.4(ZFPM2):c.1186G>A (p.Asp396Asn)46,XY sex reversal 9 [RCV003588048]|ZFPM2-related disorder [RCV003901213]uncertain significance8105801268105801268Human1name , trait , alternate_id
405252688CV2947812single nucleotide variantNM_012082.4(ZFPM2):c.1892T>G (p.Val631Gly)46,XY sex reversal 9 [RCV003748585]uncertain significance8105801974105801974Human1name , alternate_id
405104534CV2992729single nucleotide variantNM_012082.4(ZFPM2):c.2673C>G (p.Asp891Glu)46,XY sex reversal 9 [RCV003750047]|ZFPM2-related disorder [RCV003966561]uncertain significance8105802755105802755Human1name , trait , alternate_id
405104357CV2994998single nucleotide variantNM_012082.4(ZFPM2):c.2147C>A (p.Pro716His)46,XY sex reversal 9 [RCV003749983]uncertain significance8105802229105802229Human1name , alternate_id
405250808CV3006855single nucleotide variantNM_012082.4(ZFPM2):c.2311A>G (p.Thr771Ala)46,XY sex reversal 9 [RCV003747707]uncertain significance8105802393105802393Human1name , alternate_id
405103677CV3074661single nucleotide variantNM_012082.4(ZFPM2):c.1463T>C (p.Ile488Thr)46,XY sex reversal 9 [RCV003749736]|Diaphragmatic hernia 3 [RCV005392692]|Inborn genetic diseases [RCV004374339]likely benign|uncertain significance8105801545105801545Human4name , alternate_id
405103425CV3076309single nucleotide variantNM_012082.4(ZFPM2):c.1413G>C (p.Lys471Asn)46,XY sex reversal 9 [RCV003749645]uncertain significance8105801495105801495Human1name , alternate_id
405042234CV3141206single nucleotide variantNM_012082.4(ZFPM2):c.1786A>G (p.Ser596Gly)46,XY sex reversal 9 [RCV003831499]uncertain significance8105801868105801868Human1name , alternate_id
405294483CV3211690single nucleotide variantNM_012082.4(ZFPM2):c.2021G>A (p.Ser674Asn)ZFPM2-related disorder [RCV003934425]uncertain significance8105802103105802103Humanname , trait , alternate_id
405699841CV3227176single nucleotide variantNM_012082.4(ZFPM2):c.2189A>G (p.Gln730Arg)46,XY sex reversal 9 [RCV003993527]uncertain significance8105802271105802271Human1name , alternate_id
405669529CV3360390single nucleotide variantNM_012082.4(ZFPM2):c.1039G>A (p.Val347Met)Inborn genetic diseases [RCV004486197]uncertain significance8105801121105801121Human1name
405669534CV3360391single nucleotide variantNM_012082.4(ZFPM2):c.1196A>G (p.His399Arg)Inborn genetic diseases [RCV004486198]uncertain significance8105801278105801278Human1name
405669546CV3360393single nucleotide variantNM_012082.4(ZFPM2):c.1358G>T (p.Arg453Ile)Inborn genetic diseases [RCV004486200]uncertain significance8105801440105801440Human1name
405669552CV3360394single nucleotide variantNM_012082.4(ZFPM2):c.1402A>T (p.Thr468Ser)Inborn genetic diseases [RCV004486201]uncertain significance8105801484105801484Human1name
405669558CV3360395single nucleotide variantNM_012082.4(ZFPM2):c.2468G>C (p.Cys823Ser)Inborn genetic diseases [RCV004486202]uncertain significance8105802550105802550Human1name
407459197CV3490198single nucleotide variantNM_012082.4(ZFPM2):c.1527G>T (p.Met509Ile)Inborn genetic diseases [RCV004687071]uncertain significance8105801609105801609Human1name
407459202CV3490200single nucleotide variantNM_012082.4(ZFPM2):c.2713C>T (p.Pro905Ser)Inborn genetic diseases [RCV004687073]uncertain significance8105802795105802795Human1name
407459205CV3490201single nucleotide variantNM_012082.4(ZFPM2):c.1666A>T (p.Thr556Ser)Inborn genetic diseases [RCV004687074]uncertain significance8105801748105801748Human1name
407459211CV3490203single nucleotide variantNM_012082.4(ZFPM2):c.2206C>G (p.Arg736Gly)Inborn genetic diseases [RCV004687076]uncertain significance8105802288105802288Human1name
408375080CV3509797single nucleotide variantNM_012082.4(ZFPM2):c.2909G>C (p.Gly970Ala)ZFPM2-related disorder [RCV004747772]uncertain significance8105802991105802991Humanname , trait , alternate_id
408387696CV3518951single nucleotide variantNM_012082.4(ZFPM2):c.1793A>T (p.Asn598Ile)not provided [RCV004761270]uncertain significance8105801875105801875Humanname
408380811CV3523667single nucleotide variantNM_012082.4(ZFPM2):c.2306C>T (p.Pro769Leu)not provided [RCV004766065]uncertain significance8105802388105802388Humanname
408387449CV3524539single nucleotide variantNM_012082.4(ZFPM2):c.1875C>G (p.Cys625Trp)not provided [RCV004768413]uncertain significance8105801957105801957Humanname
408392209CV3528034single nucleotide variantNM_012082.4(ZFPM2):c.2228A>G (p.Glu743Gly)not provided [RCV004775802]uncertain significance8105802310105802310Humanname
596922425CV3537170single nucleotide variantNM_012082.4(ZFPM2):c.1484G>T (p.Gly495Val)not provided [RCV004786166]uncertain significance8105801566105801566Humanname
597625797CV3624754single nucleotide variantNM_012082.4(ZFPM2):c.2854A>G (p.Ile952Val)Inborn genetic diseases [RCV004964776]uncertain significance8105802936105802936Human1name
597625801CV3624756single nucleotide variantNM_012082.4(ZFPM2):c.2940G>C (p.Gln980His)Inborn genetic diseases [RCV004964778]uncertain significance8105803022105803022Human1name
597625803CV3624757single nucleotide variantNM_012082.4(ZFPM2):c.2681T>G (p.Val894Gly)Inborn genetic diseases [RCV004964779]uncertain significance8105802763105802763Human1name
597625804CV3624758single nucleotide variantNM_012082.4(ZFPM2):c.1211C>A (p.Thr404Asn)Inborn genetic diseases [RCV004964780]uncertain significance8105801293105801293Human1name
597625806CV3624759single nucleotide variantNM_012082.4(ZFPM2):c.2696A>G (p.Glu899Gly)Inborn genetic diseases [RCV004964781]uncertain significance8105802778105802778Human1name
597625809CV3624762single nucleotide variantNM_012082.4(ZFPM2):c.2540C>T (p.Pro847Leu)Inborn genetic diseases [RCV004964783]uncertain significance8105802622105802622Human1name
597625813CV3624764single nucleotide variantNM_012082.4(ZFPM2):c.1681G>C (p.Asp561His)Inborn genetic diseases [RCV004964785]uncertain significance8105801763105801763Human1name
597625816CV3624766single nucleotide variantNM_012082.4(ZFPM2):c.2852T>C (p.Leu951Pro)Inborn genetic diseases [RCV004964787]uncertain significance8105802934105802934Human1name
597625818CV3624767single nucleotide variantNM_012082.4(ZFPM2):c.2939A>G (p.Gln980Arg)Inborn genetic diseases [RCV004964788]uncertain significance8105803021105803021Human1name
597718323CV3733412single nucleotide variantNM_012082.4(ZFPM2):c.2549T>G (p.Leu850Arg)not provided [RCV005052602]uncertain significance8105802631105802631Humanname
597889385CV3762733single nucleotide variantNM_012082.4(ZFPM2):c.2336G>A (p.Gly779Glu)46,XY sex reversal 9 [RCV005110506]uncertain significance8105802418105802418Human1name , alternate_id
597909116CV3781962single nucleotide variantNM_012082.4(ZFPM2):c.1510C>T (p.Pro504Ser)46,XY sex reversal 9 [RCV005128454]uncertain significance8105801592105801592Human1name , alternate_id
597953707CV3786515single nucleotide variantNM_012082.4(ZFPM2):c.1359A>C (p.Arg453Ser)46,XY sex reversal 9 [RCV005121606]uncertain significance8105801441105801441Human1name , alternate_id
597870389CV3799800single nucleotide variantNM_012082.4(ZFPM2):c.1477C>T (p.Pro493Ser)46,XY sex reversal 9 [RCV005148214]uncertain significance8105801559105801559Human1name , alternate_id
597908376CV3806110single nucleotide variantNM_012082.4(ZFPM2):c.2261C>A (p.Pro754Gln)46,XY sex reversal 9 [RCV005153868]uncertain significance8105802343105802343Human1name , alternate_id
597875713CV3816820single nucleotide variantNM_012082.4(ZFPM2):c.1334C>T (p.Thr445Ile)46,XY sex reversal 9 [RCV005148873]uncertain significance8105801416105801416Human1name , alternate_id
597972787CV3819916single nucleotide variantNM_012082.4(ZFPM2):c.2794T>C (p.Phe932Leu)46,XY sex reversal 9 [RCV005167630]uncertain significance8105802876105802876Human1name , alternate_id
597966930CV3823747single nucleotide variantNM_012082.4(ZFPM2):c.1758T>A (p.Ser586Arg)46,XY sex reversal 9 [RCV005165167]uncertain significance8105801840105801840Human1name , alternate_id
597911153CV3830260single nucleotide variantNM_012082.4(ZFPM2):c.2449A>T (p.Thr817Ser)46,XY sex reversal 9 [RCV005182830]uncertain significance8105802531105802531Human1name , alternate_id
597900872CV3835338single nucleotide variantNM_012082.4(ZFPM2):c.1667C>T (p.Thr556Ile)46,XY sex reversal 9 [RCV005181060]likely benign8105801749105801749Human1name , alternate_id
597930252CV3837547single nucleotide variantNM_012082.4(ZFPM2):c.2230A>C (p.Met744Leu)46,XY sex reversal 9 [RCV005185705]uncertain significance8105802312105802312Human1name , alternate_id
597957559CV3838516single nucleotide variantNM_012082.4(ZFPM2):c.1313T>C (p.Leu438Pro)46,XY sex reversal 9 [RCV005191891]uncertain significance8105801395105801395Human1name , alternate_id
597873840CV3849940single nucleotide variantNM_012082.4(ZFPM2):c.1631T>C (p.Met544Thr)46,XY sex reversal 9 [RCV005197929]uncertain significance8105801713105801713Human1name , alternate_id
598205020CV3896771single nucleotide variantNM_012082.4(ZFPM2):c.2875A>T (p.Arg959Ter)Diaphragmatic hernia 3 [RCV005356952]uncertain significance8105802957105802957Human1name , alternate_id
598259824CV3937773single nucleotide variantNM_012082.4(ZFPM2):c.1126A>G (p.Arg376Gly)Inborn genetic diseases [RCV005300302]uncertain significance8105801208105801208Human1name
598159067CV3937774single nucleotide variantNM_012082.4(ZFPM2):c.2185A>C (p.Met729Leu)Inborn genetic diseases [RCV005306479]|not provided [RCV005426459]likely benign|uncertain significance8105802267105802267Human1name
598259833CV3937776single nucleotide variantNM_012082.4(ZFPM2):c.1215A>T (p.Glu405Asp)Inborn genetic diseases [RCV005300304]uncertain significance8105801297105801297Human1name
598159072CV3937777single nucleotide variantNM_012082.4(ZFPM2):c.1403C>T (p.Thr468Ile)Inborn genetic diseases [RCV005306480]uncertain significance8105801485105801485Human1name
12891369CV396119single nucleotide variantNM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile)46,XY sex reversal 9 [RCV000476456]|not provided [RCV001573677]|not specified [RCV001702786]benign|likely benign8105802369105802369Human1name , alternate_id
616933681CV4011640single nucleotide variantNM_012082.4(ZFPM2):c.2374C>T (p.Pro792Ser)not specified [RCV005408189]likely benign8105802456105802456Humanname
617153642CV4016716single nucleotide variantNM_012082.4(ZFPM2):c.2948C>G (p.Pro983Arg)not provided [RCV005415813]uncertain significance8105803030105803030Humanname
13485923CV444195single nucleotide variantNM_012082.4(ZFPM2):c.1520T>C (p.Ile507Thr)not provided [RCV000522745]uncertain significance8105801602105801602Humanname
13475889CV444196single nucleotide variantNM_012082.4(ZFPM2):c.1632G>T (p.Met544Ile)46,XY sex reversal 9 [RCV005091236]|not provided [RCV000520007]likely benign|uncertain significance8105801714105801714Human1name , alternate_id
13490297CV457742single nucleotide variantNM_012082.4(ZFPM2):c.2146C>T (p.Pro716Ser)46,XY sex reversal 9 [RCV000533424]uncertain significance8105802228105802228Human1name , alternate_id
8570481CV48117single nucleotide variantNM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)46,XY sex reversal 3 [RCV001007702]|46,XY sex reversal 9 [RCV000144723]|Diaphragmatic hernia 3 [RCV005394189]|Tetralogy of Fallot [RCV000032716]|ZFPM2-related disorder [RCV003974865]|not provided [RCV000514546]|not specified [RCV000455350]pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance8105801714105801714Human5name , trait , alternate_id
8604268CV48118single nucleotide variantNM_012082.4(ZFPM2):c.2209A>G (p.Lys737Glu)Double outlet right ventricle [RCV000032717]pathogenic8105802291105802291Human2name
13517139CV492143single nucleotide variantNM_012082.4(ZFPM2):c.1366A>T (p.Ile456Leu)not provided [RCV000596322]uncertain significance8105801448105801448Humanname
13520489CV495594duplicationNM_012082.4(ZFPM2):c.1400dup (p.Tyr467Ter)not provided [RCV000598673]likely pathogenic8105801481105801482Humanname
13626750CV523206single nucleotide variantNM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr)46,XY sex reversal 9 [RCV000655313]|not provided [RCV003432715]|not specified [RCV001816653]benign|likely benign8105801358105801358Human1name , alternate_id
13626748CV523568single nucleotide variantNM_012082.4(ZFPM2):c.1227G>T (p.Gln409His)46,XY sex reversal 9 [RCV000655311]|Inborn genetic diseases [RCV004686600]likely benign|uncertain significance8105801309105801309Human2name , alternate_id
13626744CV523569single nucleotide variantNM_012082.4(ZFPM2):c.1871C>G (p.Ser624Cys)46,XY sex reversal 9 [RCV000655307]|Inborn genetic diseases [RCV004965649]|not provided [RCV001354602]likely benign|uncertain significance8105801953105801953Human2name , alternate_id
13626752CV523580single nucleotide variantNM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg)46,XY sex reversal 9 [RCV000655315]|ZFPM2-related disorder [RCV003907920]|not specified [RCV001816654]benign|likely benign8105802583105802583Human1name , trait , alternate_id
13796066CV551706single nucleotide variantNM_012082.4(ZFPM2):c.1318A>G (p.Lys440Glu)46,XY sex reversal 9 [RCV000705620]|Tetralogy of Fallot [RCV000678773]uncertain significance8105801400105801400Human3name , alternate_id
13808978CV561886single nucleotide variantNM_012082.4(ZFPM2):c.2384T>C (p.Val795Ala)46,XY sex reversal 9 [RCV000701895]uncertain significance8105802466105802466Human1name , alternate_id
13808747CV567325single nucleotide variantNM_012082.4(ZFPM2):c.2651G>A (p.Arg884His)46,XY sex reversal 9 [RCV000701785]uncertain significance8105802733105802733Human1name , alternate_id
14696234CV621897single nucleotide variantNM_012082.4(ZFPM2):c.1168A>C (p.Lys390Gln)46,XY sex reversal 9 [RCV005092334]|Diaphragmatic hernia 3 [RCV000782369]uncertain significance8105801250105801250Human2name , alternate_id
14730220CV636533single nucleotide variantNM_012082.4(ZFPM2):c.1210A>C (p.Thr404Pro)46,XY sex reversal 9 [RCV000817308]uncertain significance8105801292105801292Human1name , alternate_id
14724280CV636534single nucleotide variantNM_012082.4(ZFPM2):c.1274A>T (p.Lys425Met)46,XY sex reversal 9 [RCV000798330]uncertain significance8105801356105801356Human1name , alternate_id
14731042CV636535single nucleotide variantNM_012082.4(ZFPM2):c.1436T>C (p.Leu479Pro)46,XY sex reversal 9 [RCV000817654]uncertain significance8105801518105801518Human1name , alternate_id
14724007CV636536single nucleotide variantNM_012082.4(ZFPM2):c.1889C>T (p.Thr630Ile)46,XY sex reversal 9 [RCV000798220]|Inborn genetic diseases [RCV002537082]|not provided [RCV003141786]uncertain significance8105801971105801971Human2name , alternate_id
14736705CV636537single nucleotide variantNM_012082.4(ZFPM2):c.2206C>T (p.Arg736Cys)46,XY sex reversal 9 [RCV000803722]uncertain significance8105802288105802288Human1name , alternate_id
14733027CV636538single nucleotide variantNM_012082.4(ZFPM2):c.2300A>G (p.Asn767Ser)46,XY sex reversal 9 [RCV000802116]uncertain significance8105802382105802382Human1name , alternate_id
14704997CV636539single nucleotide variantNM_012082.4(ZFPM2):c.2969G>A (p.Ser990Asn)46,XY sex reversal 9 [RCV000791543]|Inborn genetic diseases [RCV002536931]uncertain significance8105803051105803051Human2name , alternate_id
15121541CV683963single nucleotide variantNM_012082.4(ZFPM2):c.1015G>A (p.Val339Ile)46,XY sex reversal 9 [RCV002538904]|not specified [RCV001816934]benign|likely benign8105801097105801097Human1name , alternate_id
15157533CV687163single nucleotide variantNM_012082.4(ZFPM2):c.2728G>A (p.Glu910Lys)Inborn genetic diseases [RCV004027727]|not provided [RCV000868463]likely benign|uncertain significance8105802810105802810Human1name
25322646CV794210single nucleotide variantNM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val)46,XY sex reversal 3 [RCV001007701]|46,XY sex reversal 9 [RCV002067598]benign8105801085105801085Human2name , alternate_id
25322642CV794211single nucleotide variantNM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys)46,XY sex reversal 3 [RCV001007698]benign8105801337105801337Human1name
25322641CV794212single nucleotide variantNM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile)46,XY sex reversal 3 [RCV001007697]|46,XY sex reversal 9 [RCV001492996]|not provided [RCV001531088]benign|likely benign8105801694105801694Human2name , alternate_id
25322647CV794213single nucleotide variantNM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn)46,XY sex reversal 3 [RCV001007703]benign8105801852105801852Human1name
26900320CV834033single nucleotide variantNM_012082.4(ZFPM2):c.2930G>A (p.Gly977Glu)46,XY sex reversal 9 [RCV001071239]uncertain significance8105803012105803012Human1name , alternate_id
28885193CV859641single nucleotide variantNM_012082.4(ZFPM2):c.1303G>C (p.Asp435His)not provided [RCV001091701]uncertain significance8105801385105801385Humanname
8632769CV87984single nucleotide variantNM_012082.3(ZFPM2):c.2168C>T (p.Ser723Phe)Malignant melanoma [RCV000068076]not provided8105802250105802250Humanname
38461856CV919130duplicationNM_012082.4(ZFPM2):c.3269dup (p.Ser1091fs)Tetralogy of Fallot [RCV001197971]uncertain significance8105803350105803351Human2name
38475965CV924979single nucleotide variantNM_012082.4(ZFPM2):c.2935G>A (p.Asp979Asn)46,XY sex reversal 9 [RCV001215425]|Inborn genetic diseases [RCV003163652]uncertain significance8105803017105803017Human2name , alternate_id
38490256CV945821single nucleotide variantNM_012082.4(ZFPM2):c.2119C>G (p.Gln707Glu)46,XY sex reversal 9 [RCV001238753]|Inborn genetic diseases [RCV004963271]uncertain significance8105802201105802201Human2name , alternate_id
38495543CV945822single nucleotide variantNM_012082.4(ZFPM2):c.2650C>T (p.Arg884Cys)46,XY sex reversal 9 [RCV001225784]uncertain significance8105802732105802732Human1name , alternate_id
38498652CV955273single nucleotide variantNM_012082.4(ZFPM2):c.2983G>A (p.Gly995Ser)46,XY sex reversal 9 [RCV001243951]|Inborn genetic diseases [RCV002568572]uncertain significance8105803065105803065Human2name , alternate_id
126770787CV1028270single nucleotide variantNM_012082.4(ZFPM2):c.3161C>T (p.Pro1054Leu)46,XY sex reversal 9 [RCV001344672]uncertain significance8105803243105803243Human1name , alternate_id
127270418CV1074984single nucleotide variantNM_012082.4(ZFPM2):c.3077C>T (p.Ala1026Val)46,XY sex reversal 9 [RCV001404984]|Inborn genetic diseases [RCV002553414]likely benign8105803159105803159Human2name , alternate_id
127265412CV1096628single nucleotide variantNM_012082.4(ZFPM2):c.3049G>A (p.Gly1017Ser)46,XY sex reversal 9 [RCV001429059]|not provided [RCV004707594]likely benign8105803131105803131Human1name , alternate_id
127288711CV1118150single nucleotide variantNM_012082.4(ZFPM2):c.3268G>A (p.Val1090Ile)46,XY sex reversal 9 [RCV001450583]likely benign8105803350105803350Human1name , alternate_id
150550418CV1308119single nucleotide variantNM_012082.4(ZFPM2):c.3358T>C (p.Tyr1120His)not provided [RCV001753109]uncertain significance8105803440105803440Humanname
156056188CV2003413single nucleotide variantNM_012082.4(ZFPM2):c.3090T>G (p.Asp1030Glu)46,XY sex reversal 9 [RCV002659529]uncertain significance8105803172105803172Human1name , alternate_id
156223040CV2005812single nucleotide variantNM_012082.4(ZFPM2):c.3124G>T (p.Val1042Leu)46,XY sex reversal 9 [RCV002667298]uncertain significance8105803206105803206Human1name , alternate_id
156392685CV2006020single nucleotide variantNM_012082.4(ZFPM2):c.3014A>G (p.Glu1005Gly)46,XY sex reversal 9 [RCV002680924]likely benign8105803096105803096Human1name , alternate_id
156037995CV2124686single nucleotide variantNM_012082.4(ZFPM2):c.3326A>T (p.Asn1109Ile)46,XY sex reversal 9 [RCV002923797]|not provided [RCV003111609]uncertain significance8105803408105803408Human1name , alternate_id
156170461CV2317143single nucleotide variantNM_012082.4(ZFPM2):c.3087A>C (p.Lys1029Asn)Inborn genetic diseases [RCV002929810]uncertain significance8105803169105803169Human1name
156300273CV2322416single nucleotide variantNM_012082.4(ZFPM2):c.3373G>A (p.Asp1125Asn)Inborn genetic diseases [RCV002936305]uncertain significance8105803455105803455Human1name
401931420CV2800773single nucleotide variantNM_012082.4(ZFPM2):c.3175C>T (p.Gln1059Ter)ZFPM2-related disorder [RCV003391296]uncertain significance8105803257105803257Humanname , trait , alternate_id
401913150CV2803246single nucleotide variantNM_012082.4(ZFPM2):c.3377T>A (p.Ile1126Asn)ZFPM2-related disorder [RCV003427786]uncertain significance8105803459105803459Humanname , trait , alternate_id
401924104CV2821229single nucleotide variantNM_012082.4(ZFPM2):c.3208G>A (p.Glu1070Lys)not provided [RCV003435588]likely benign8105803290105803290Humanname
405163823CV2873004single nucleotide variantNM_012082.4(ZFPM2):c.3218A>T (p.His1073Leu)46,XY sex reversal 9 [RCV003586959]uncertain significance8105803300105803300Human1name , alternate_id
405162795CV2875873single nucleotide variantNM_012082.4(ZFPM2):c.3418T>G (p.Phe1140Val)46,XY sex reversal 9 [RCV003586876]uncertain significance8105803500105803500Human1name , alternate_id
405252908CV3047303single nucleotide variantNM_012082.4(ZFPM2):c.3037G>C (p.Glu1013Gln)46,XY sex reversal 9 [RCV003748685]uncertain significance8105803119105803119Human1name , alternate_id
405101826CV3069048single nucleotide variantNM_012082.4(ZFPM2):c.3298C>G (p.Gln1100Glu)46,XY sex reversal 9 [RCV003748982]uncertain significance8105803380105803380Human1name , alternate_id
405208243CV3145671single nucleotide variantNM_012082.4(ZFPM2):c.3262G>A (p.Glu1088Lys)46,XY sex reversal 9 [RCV003845401]uncertain significance8105803344105803344Human1name , alternate_id
405669563CV3360396single nucleotide variantNM_012082.4(ZFPM2):c.3229T>G (p.Ser1077Ala)Inborn genetic diseases [RCV004486203]uncertain significance8105803311105803311Human1name
407427100CV3410433single nucleotide variantNM_012082.4(ZFPM2):c.3066T>A (p.Asn1022Lys)not specified [RCV004586080]uncertain significance8105803148105803148Humanname
407508915CV3496416single nucleotide variantNM_012082.4(ZFPM2):c.3137G>A (p.Gly1046Asp)not provided [RCV004698257]uncertain significance8105803219105803219Humanname
408386321CV3522461single nucleotide variantNM_012082.4(ZFPM2):c.3416A>G (p.Lys1139Arg)not provided [RCV004767821]uncertain significance8105803498105803498Humanname
596942692CV3544061single nucleotide variantNM_012082.4(ZFPM2):c.3031G>A (p.Glu1011Lys)not specified [RCV004800051]uncertain significance8105803113105803113Humanname
597625814CV3624765single nucleotide variantNM_012082.4(ZFPM2):c.3193C>A (p.Gln1065Lys)Inborn genetic diseases [RCV004964786]uncertain significance8105803275105803275Human1name
597913003CV3778645single nucleotide variantNM_012082.4(ZFPM2):c.3428C>T (p.Ser1143Leu)46,XY sex reversal 9 [RCV005128990]uncertain significance8105803510105803510Human1name , alternate_id
598238262CV3893348single nucleotide variantNM_012082.4(ZFPM2):c.3237C>G (p.Ile1079Met)not provided [RCV005256081]uncertain significance8105803319105803319Humanname
598159338CV3897069single nucleotide variantNM_012082.4(ZFPM2):c.3116G>A (p.Arg1039Gln)not provided [RCV005368043]uncertain significance8105803198105803198Humanname
598259829CV3937775single nucleotide variantNM_012082.4(ZFPM2):c.3442G>C (p.Glu1148Gln)Inborn genetic diseases [RCV005300303]uncertain significance8105803524105803524Human1name
12884988CV395860single nucleotide variantNM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val)46,XY sex reversal 9 [RCV000464502]|not provided [RCV004712861]|not specified [RCV003230509]benign|likely benign8105803246105803246Human1name , alternate_id
12887740CV396122single nucleotide variantNM_012082.4(ZFPM2):c.3294G>C (p.Glu1098Asp)46,XY sex reversal 9 [RCV000469606]uncertain significance8105803376105803376Human1name , alternate_id
13493982CV457744single nucleotide variantNM_012082.4(ZFPM2):c.3334A>G (p.Ser1112Gly)46,XY sex reversal 9 [RCV000558571]uncertain significance8105803416105803416Human1name , alternate_id
13626745CV522965single nucleotide variantNM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile)46,XY sex reversal 9 [RCV000655308]|Diaphragmatic hernia 3 [RCV005392248]uncertain significance8105803168105803168Human3name , alternate_id
40815396CV970870single nucleotide variantNM_012082.4(ZFPM2):c.3335G>A (p.Ser1112Asn)Diaphragmatic hernia 3 [RCV001262754]uncertain significance8105803417105803417Human1name
40903322CV975859duplicationNM_012082.4(ZFPM2):c.757_761dup (p.Cys255fs)Diaphragmatic hernia 3 [RCV001269307]|not provided [RCV004762043]pathogenic|likely pathogenic8105798739105798740Human1name
150533178CV1311059microsatelliteNM_012082.4(ZFPM2):c.1672AAT[1] (p.Asn559del)not provided [RCV001776794]uncertain significance8105801754105801756Humanname
405698019CV3226928deletionNM_012082.4(ZFPM2):c.1480_1493del (p.Val494fs)not provided [RCV003993322]likely pathogenic8105801559105801572Humanname
597631243CV3552655duplicationNM_012082.4(ZFPM2):c.2564_2565dup (p.Cys856fs)not provided [RCV004823355]likely pathogenic8105802644105802645Humanname
597932105CV3780460deletionNM_012082.4(ZFPM2):c.2067_2071del (p.Glu690fs)46,XY sex reversal 9 [RCV005116780]uncertain significance8105802148105802152Human1name , alternate_id
40903323CV975860duplicationNM_012082.4(ZFPM2):c.1396_1399dup (p.Tyr467fs)Diaphragmatic hernia 3 [RCV001269308]pathogenic8105801475105801476Human1name
151354252CV1329385deletionNM_012082.4(ZFPM2):c.1975_1977del (p.Asn659del)not specified [RCV001817748]uncertain significance8105802057105802059Humanname
25322651CV794214deletionNM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del)46,XY sex reversal 3 [RCV001007704]|46,XY sex reversal 9 [RCV003586260]benign|uncertain significance8105801898105801900Human2name , alternate_id
25318440CV805556insertionNM_012082.4(ZFPM2):c.2382_2383insA (p.Val795fs)not provided [RCV001008616]likely pathogenic8105802464105802465Humanname
405253202CV3066720duplicationNM_012082.4(ZFPM2):c.898_900dup (p.Phe300_Pro301insPhe)46,XY sex reversal 9 [RCV003748835]uncertain significance8105798880105798881Human1name , alternate_id
156439715CV1939762duplicationNC_000008.10:g.(?_106331170)_(106674812_?)dup46,XY sex reversal 9 [RCV003109681]uncertain significanceHuman1alternate_id