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Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


79 records found for search term Tm4sf20
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
11523016CV244144deletionTM4SF20, 4-KB DELSpecific language impairment 5 [RCV000235068]pathogenicHuman1name
8573540CV76949deletionTM4SF20, 4-KB DELSpecific language impairment 5 [RCV000056282]pathogenicHumanname
151738334CV1390012single nucleotide variantNM_024795.4(TM4SF20):c.184-2A>Tnot provided [RCV001893016]uncertain significance2227370982227370982Humanname
156264847CV2189131single nucleotide variantNM_024795.4(TM4SF20):c.249+4A>Gnot provided [RCV003044248]uncertain significance2227370911227370911Humanname
405220182CV2904172single nucleotide variantNM_024795.4(TM4SF20):c.402-2A>Gnot provided [RCV003568311]uncertain significance2227364014227364014Humanname
408385242CV3526032single nucleotide variantNM_024795.4(TM4SF20):c.250-2A>Gnot provided [RCV005059923]|not specified [RCV004766943]uncertain significance2227366246227366246Humanname
597906183CV3738731single nucleotide variantNM_024795.4(TM4SF20):c.250-9A>Cnot provided [RCV005072965]likely benign2227366253227366253Humanname
127305620CV1154035single nucleotide variantNM_024795.4(TM4SF20):c.249+13C>Tnot provided [RCV001516337]benign2227370902227370902Humanname
152063589CV1612114single nucleotide variantNM_024795.4(TM4SF20):c.249+18G>Anot provided [RCV002128654]likely benign2227370897227370897Humanname
152151009CV1661790single nucleotide variantNM_024795.4(TM4SF20):c.401+10T>Cnot provided [RCV002179447]likely benign2227366083227366083Humanname
155954346CV2043921single nucleotide variantNM_024795.4(TM4SF20):c.250-13T>Cnot provided [RCV002775941]likely benign2227366257227366257Humanname
597830211CV3746631single nucleotide variantNM_024795.4(TM4SF20):c.402-17T>Cnot provided [RCV005061917]likely benign2227364029227364029Humanname
152115145CV1525990single nucleotide variantNM_024795.4(TM4SF20):c.12C>T (p.Cys4=)TM4SF20-related disorder [RCV003893134]|not provided [RCV002174831]likely benign2227379257227379257Human1name , trait , alternate_id
127316822CV1154037single nucleotide variantNM_024795.4(TM4SF20):c.75C>T (p.Leu25=)not provided [RCV001520723]benign2227379194227379194Humanname
156060945CV1876357single nucleotide variantNM_024795.4(TM4SF20):c.81G>A (p.Ala27=)not provided [RCV003053341]likely benign2227379188227379188Humanname
152093604CV1570633single nucleotide variantNM_024795.4(TM4SF20):c.201A>G (p.Thr67=)not provided [RCV002213063]likely benign2227370963227370963Humanname
152139768CV1660693single nucleotide variantNM_024795.4(TM4SF20):c.25T>G (p.Ser9Ala)not provided [RCV002120198]likely benign2227379244227379244Humanname
9831608CV166685duplicationNM_024795.3(TM4SF20):c.-14304_183+492dupPreeclampsia [RCV000161251]not provided2227378594227393572Humanname
405049635CV2887000single nucleotide variantNM_024795.4(TM4SF20):c.228G>A (p.Ala76=)TM4SF20-related disorder [RCV003966521]|not provided [RCV003579695]likely benign2227370936227370936Human1name , trait , alternate_id
597870978CV3849245single nucleotide variantNM_024795.4(TM4SF20):c.240C>T (p.Asn80=)not provided [RCV005197426]likely benign2227370924227370924Humanname
127300673CV1154036single nucleotide variantNM_024795.4(TM4SF20):c.80C>T (p.Ala27Val)TM4SF20-related disorder [RCV003980520]|not provided [RCV001514309]benign2227379189227379189Human1name , trait , alternate_id
151813963CV1492165single nucleotide variantNM_024795.4(TM4SF20):c.37T>C (p.Phe13Leu)not provided [RCV002029248]uncertain significance2227379232227379232Humanname
152107618CV1529878single nucleotide variantNM_024795.4(TM4SF20):c.687G>A (p.Val229=)not provided [RCV002196359]likely benign2227363727227363727Humanname
152123807CV1546421single nucleotide variantNM_024795.4(TM4SF20):c.636C>T (p.Ile212=)TM4SF20-related disorder [RCV003903418]|not provided [RCV002118181]benign2227363778227363778Human1name , trait , alternate_id
152028137CV1642665single nucleotide variantNM_024795.4(TM4SF20):c.654G>T (p.Leu218=)not provided [RCV002185736]benign2227363760227363760Humanname
152154268CV1643702single nucleotide variantNM_024795.4(TM4SF20):c.83T>C (p.Ile28Thr)TM4SF20-related disorder [RCV003923595]|not provided [RCV002122193]likely benign2227379186227379186Human1name , trait , alternate_id
156194309CV1889426single nucleotide variantNM_024795.4(TM4SF20):c.85C>A (p.Pro29Thr)not provided [RCV003083980]uncertain significance2227379184227379184Humanname
156416780CV1970000single nucleotide variantNM_024795.4(TM4SF20):c.32A>G (p.Asn11Ser)not provided [RCV002589872]uncertain significance2227379237227379237Humanname
155902535CV2010271single nucleotide variantNM_024795.4(TM4SF20):c.486T>C (p.Ser162=)not provided [RCV002726272]likely benign2227363928227363928Humanname
156243202CV2231496single nucleotide variantNM_024795.4(TM4SF20):c.73C>G (p.Leu25Val)not specified [RCV004096563]uncertain significance2227379196227379196Humanname
405251484CV3049999single nucleotide variantNM_024795.4(TM4SF20):c.663C>T (p.Val221=)not provided [RCV003721919]likely benign2227363751227363751Humanname
405201823CV3066919single nucleotide variantNM_024795.4(TM4SF20):c.639T>C (p.Gly213=)not provided [RCV003730803]likely benign2227363775227363775Humanname
407452753CV3475979single nucleotide variantNM_024795.4(TM4SF20):c.70G>A (p.Val24Ile)not specified [RCV004684202]uncertain significance2227379199227379199Humanname
596948078CV3547670single nucleotide variantNM_024795.4(TM4SF20):c.77A>G (p.Asn26Ser)not provided [RCV004811975]likely benign2227379192227379192Humanname
597960188CV3811470single nucleotide variantNM_024795.4(TM4SF20):c.600T>C (p.Ile200=)not provided [RCV005163317]likely benign2227363814227363814Humanname
127299092CV1154034single nucleotide variantNM_024795.4(TM4SF20):c.265C>T (p.Leu89Phe)TM4SF20-related disorder [RCV003980513]|not provided [RCV001513550]benign2227366229227366229Human1name , trait , alternate_id
151822978CV1385422single nucleotide variantNM_024795.4(TM4SF20):c.130C>T (p.Pro44Ser)not provided [RCV001975926]uncertain significance2227379139227379139Humanname
151882105CV1395997single nucleotide variantNM_024795.4(TM4SF20):c.295C>G (p.Leu99Val)not provided [RCV002037064]uncertain significance2227366199227366199Humanname
153349286CV1694161single nucleotide variantNM_024795.4(TM4SF20):c.271A>G (p.Ser91Gly)Specific language impairment 5 [RCV002275678]uncertain significance2227366223227366223Human1name
156407074CV1963892single nucleotide variantNM_024795.4(TM4SF20):c.156C>A (p.Phe52Leu)not provided [RCV002586112]likely benign2227379113227379113Humanname
156329642CV1990882single nucleotide variantNM_024795.4(TM4SF20):c.233G>A (p.Cys78Tyr)not provided [RCV002630856]uncertain significance2227370931227370931Humanname
156029056CV2004814single nucleotide variantNM_024795.4(TM4SF20):c.287T>C (p.Ile96Thr)not provided [RCV002658579]uncertain significance2227366207227366207Humanname
156032360CV2142139single nucleotide variantNM_024795.4(TM4SF20):c.225A>T (p.Arg75Ser)not provided [RCV002976661]|not specified [RCV004065168]uncertain significance2227370939227370939Humanname
155996474CV2393186single nucleotide variantNM_024795.4(TM4SF20):c.278T>C (p.Ile93Thr)not provided [RCV003720749]|not specified [RCV004226661]uncertain significance2227366216227366216Humanname
401867969CV2749164deletionNM_024795.4(TM4SF20):c.322del (p.Ala108fs)not specified [RCV003331990]uncertain significance2227366172227366172Humanname
405784232CV3343018single nucleotide variantNM_024795.4(TM4SF20):c.134T>C (p.Ile45Thr)not specified [RCV004472503]uncertain significance2227379135227379135Humanname
597775970CV3620069single nucleotide variantNM_024795.4(TM4SF20):c.102A>T (p.Leu34Phe)not specified [RCV004872675]uncertain significance2227379167227379167Humanname
597857196CV3769461single nucleotide variantNM_024795.4(TM4SF20):c.262T>C (p.Ser88Pro)not provided [RCV005105502]uncertain significance2227366232227366232Humanname
597943777CV3847762single nucleotide variantNM_024795.4(TM4SF20):c.227C>T (p.Ala76Val)not provided [RCV005188490]uncertain significance2227370937227370937Humanname
598129369CV3888665single nucleotide variantNM_024795.4(TM4SF20):c.235A>T (p.Asn79Tyr)not provided [RCV005244839]uncertain significance2227370929227370929Humanname
127231486CV1053876single nucleotide variantNM_024795.4(TM4SF20):c.559A>G (p.Ile187Val)Specific language impairment 5 [RCV001376141]likely benign2227363855227363855Human1name
127309344CV1154033single nucleotide variantNM_024795.4(TM4SF20):c.374A>G (p.Asn125Ser)not provided [RCV001517854]benign2227366120227366120Humanname
151758650CV1340566single nucleotide variantNM_024795.4(TM4SF20):c.512G>A (p.Arg171Lys)not provided [RCV001913723]uncertain significance2227363902227363902Humanname
151724374CV1369789single nucleotide variantNM_024795.4(TM4SF20):c.417A>T (p.Glu139Asp)not provided [RCV001945334]uncertain significance2227363997227363997Humanname
151739306CV1490384single nucleotide variantNM_024795.4(TM4SF20):c.531C>A (p.Phe177Leu)not provided [RCV001985083]uncertain significance2227363883227363883Humanname
152118953CV1600763single nucleotide variantNM_024795.4(TM4SF20):c.572T>C (p.Val191Ala)not provided [RCV002154008]benign2227363842227363842Humanname
152049259CV1602291single nucleotide variantNM_024795.4(TM4SF20):c.668A>C (p.Lys223Thr)TM4SF20-related disorder [RCV003913698]|not provided [RCV002127031]benign2227363746227363746Human1name , trait , alternate_id
156263238CV1902827single nucleotide variantNM_024795.4(TM4SF20):c.661G>A (p.Val221Ile)not provided [RCV003086518]|not specified [RCV004073203]uncertain significance2227363753227363753Humanname
156369505CV1920017single nucleotide variantNM_024795.4(TM4SF20):c.349A>T (p.Asn117Tyr)not provided [RCV002603063]uncertain significance2227366145227366145Humanname
156113867CV1993781single nucleotide variantNM_024795.4(TM4SF20):c.307C>G (p.Leu103Val)not provided [RCV002662594]uncertain significance2227366187227366187Humanname
156120126CV2015894single nucleotide variantNM_024795.4(TM4SF20):c.607G>T (p.Val203Phe)not provided [RCV002696004]uncertain significance2227363807227363807Humanname
156181469CV2226081single nucleotide variantNM_024795.4(TM4SF20):c.359G>C (p.Ser120Thr)not specified [RCV004105226]uncertain significance2227366135227366135Humanname
401734586CV2688567single nucleotide variantNM_024795.4(TM4SF20):c.595G>A (p.Gly199Arg)not specified [RCV004301526]uncertain significance2227363819227363819Humanname
401933778CV2799526single nucleotide variantNM_024795.4(TM4SF20):c.457C>T (p.Pro153Ser)TM4SF20-related disorder [RCV003410569]uncertain significance2227363957227363957Humanname , trait , alternate_id
401931670CV2803860single nucleotide variantNM_024795.4(TM4SF20):c.589C>T (p.Leu197Phe)TM4SF20-related disorder [RCV003408405]uncertain significance2227363825227363825Humanname , trait , alternate_id
401948546CV2832644single nucleotide variantNM_024795.4(TM4SF20):c.510G>A (p.Trp170Ter)Specific language impairment 5 [RCV003448625]uncertain significance2227363904227363904Human1name
405784237CV3343019single nucleotide variantNM_024795.4(TM4SF20):c.546C>G (p.Asn182Lys)not specified [RCV004472504]uncertain significance2227363868227363868Humanname
597775958CV3620065single nucleotide variantNM_024795.4(TM4SF20):c.571G>A (p.Val191Ile)not specified [RCV004872672]uncertain significance2227363843227363843Humanname
597775961CV3620067single nucleotide variantNM_024795.4(TM4SF20):c.463A>G (p.Thr155Ala)not specified [RCV004872673]uncertain significance2227363951227363951Humanname
597775965CV3620068single nucleotide variantNM_024795.4(TM4SF20):c.492C>A (p.Asp164Glu)not specified [RCV004872674]uncertain significance2227363922227363922Humanname
597775971CV3620070single nucleotide variantNM_024795.4(TM4SF20):c.678T>A (p.Ser226Arg)not specified [RCV004872676]uncertain significance2227363736227363736Humanname
597934593CV3810959single nucleotide variantNM_024795.4(TM4SF20):c.443A>G (p.Asn148Ser)not provided [RCV005157668]uncertain significance2227363971227363971Humanname
598123363CV3884919single nucleotide variantNM_024795.4(TM4SF20):c.671G>A (p.Arg224Gln)not specified [RCV005238528]uncertain significance2227363743227363743Humanname
598177326CV3920798single nucleotide variantNM_024795.4(TM4SF20):c.653T>C (p.Leu218Pro)not specified [RCV005285801]uncertain significance2227363761227363761Humanname
598177332CV3920799single nucleotide variantNM_024795.4(TM4SF20):c.513A>C (p.Arg171Ser)not specified [RCV005285802]uncertain significance2227363901227363901Humanname
598200015CV3920800single nucleotide variantNM_024795.4(TM4SF20):c.680A>G (p.Gln227Arg)not specified [RCV005289930]likely benign2227363734227363734Humanname
597961903CV3840872microsatelliteNM_024795.4(TM4SF20):c.194CAA[2] (p.Thr67del)not provided [RCV005193165]uncertain significance2227370962227370964Humanname
597898905CV3740880microsatelliteNM_024795.4(TM4SF20):c.548_551del (p.Lys183fs)not provided [RCV005072043]uncertain significance2227363863227363866Humanname
151790825CV1394419deletionNM_024795.4(TM4SF20):c.598_606del (p.Ile200_Glu202del)not provided [RCV002047087]uncertain significance2227363808227363816Humanname