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


112 records found for search term Znf512b
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
405260590CV3204206single nucleotide variantNM_020713.3(ZNF512B):c.*9C>TZNF512B-related disorder [RCV003944066]likely benign206395987963959879Humanname , trait , alternate_id
150500122CV1224726single nucleotide variantNM_020713.3(ZNF512B):c.1969-113C>Tnot provided [RCV001620558]benign206396289463962894Humanname
405258164CV3208253single nucleotide variantNM_020713.3(ZNF512B):c.279C>T (p.Asn93=)ZNF512B-related disorder [RCV003941687]likely benign206396699063966990Humanname , trait , alternate_id
405287803CV3217919single nucleotide variantNM_020713.3(ZNF512B):c.183G>A (p.Pro61=)ZNF512B-related disorder [RCV003982042]benign206396746263967462Human1name , trait , alternate_id
405284956CV3190964single nucleotide variantNM_020713.3(ZNF512B):c.957G>A (p.Pro319=)ZNF512B-related disorder [RCV003909521]benign206396621863966218Humanname , trait , alternate_id
405276249CV3193305single nucleotide variantNM_020713.3(ZNF512B):c.834A>C (p.Val278=)ZNF512B-related disorder [RCV003974472]benign206396634163966341Humanname , trait , alternate_id
405255906CV3208369single nucleotide variantNM_020713.3(ZNF512B):c.435C>T (p.Cys145=)ZNF512B-related disorder [RCV003939475]likely benign206396674063966740Humanname , trait , alternate_id
405285649CV3209648single nucleotide variantNM_020713.3(ZNF512B):c.576C>A (p.Ile192=)ZNF512B-related disorder [RCV003959227]likely benign206396659963966599Humanname , trait , alternate_id
405258739CV3215109single nucleotide variantNM_020713.3(ZNF512B):c.675C>T (p.Thr225=)ZNF512B-related disorder [RCV003942165]likely benign206396650063966500Humanname , trait , alternate_id
405699584CV3350786single nucleotide variantNM_020713.3(ZNF512B):c.32G>T (p.Arg11Leu)not specified [RCV004492187]uncertain significance206396791963967919Humanname
407470213CV3420743single nucleotide variantNM_020713.3(ZNF512B):c.61G>A (p.Gly21Arg)not specified [RCV004599602]uncertain significance206396789063967890Humanname
597708782CV3638724single nucleotide variantNM_020713.3(ZNF512B):c.77G>A (p.Arg26Gln)not specified [RCV004886497]uncertain significance206396787463967874Humanname
156223257CV2394883single nucleotide variantNM_020713.3(ZNF512B):c.242A>C (p.Asn81Thr)not specified [RCV004234540]uncertain significance206396740363967403Humanname
329391657CV2453012single nucleotide variantNM_020713.3(ZNF512B):c.217A>C (p.Lys73Gln)not specified [RCV004277632]uncertain significance206396742863967428Humanname
401770476CV2707232single nucleotide variantNM_020713.3(ZNF512B):c.223G>C (p.Gly75Arg)not specified [RCV004310860]uncertain significance206396742263967422Humanname
401930602CV2824649single nucleotide variantNM_020713.3(ZNF512B):c.1962G>A (p.Thr654=)not provided [RCV003440516]likely benign206396310163963101Humanname
401930601CV2824650single nucleotide variantNM_020713.3(ZNF512B):c.1830C>T (p.Gly610=)not provided [RCV003440517]likely benign206396323363963233Humanname
405275892CV3197043single nucleotide variantNM_020713.3(ZNF512B):c.2460C>T (p.Pro820=)ZNF512B-related disorder [RCV003974298]benign206396010763960107Human1name , trait , alternate_id
405272432CV3199325single nucleotide variantNM_020713.3(ZNF512B):c.1779G>T (p.Arg593=)ZNF512B-related disorder [RCV003914275]benign206396336063963360Humanname , trait , alternate_id
405293905CV3210493single nucleotide variantNM_020713.3(ZNF512B):c.2055G>A (p.Thr685=)ZNF512B-related disorder [RCV003932313]likely benign206396269563962695Humanname , trait , alternate_id
405282260CV3216325single nucleotide variantNM_020713.3(ZNF512B):c.2112C>T (p.Arg704=)ZNF512B-related disorder [RCV003956832]likely benign206396263863962638Humanname , trait , alternate_id
405277081CV3217687single nucleotide variantNM_020713.3(ZNF512B):c.1578T>C (p.Leu526=)ZNF512B-related disorder [RCV003974752]benign206396381663963816Humanname , trait , alternate_id
405265895CV3220916single nucleotide variantNM_020713.3(ZNF512B):c.2151C>T (p.Pro717=)ZNF512B-related disorder [RCV003969075]likely benign206396259963962599Humanname , trait , alternate_id
405272399CV3221766single nucleotide variantNM_020713.3(ZNF512B):c.2187C>T (p.Leu729=)ZNF512B-related disorder [RCV003972167]benign206396235163962351Humanname , trait , alternate_id
405699686CV3350770single nucleotide variantNM_020713.3(ZNF512B):c.112C>T (p.Pro38Ser)not specified [RCV004492171]uncertain significance206396783963967839Humanname
405699677CV3350772single nucleotide variantNM_020713.3(ZNF512B):c.137G>A (p.Arg46His)not specified [RCV004492173]uncertain significance206396750863967508Humanname
405699642CV3350777single nucleotide variantNM_020713.3(ZNF512B):c.182C>T (p.Pro61Leu)not specified [RCV004492178]uncertain significance206396746363967463Humanname
405699632CV3350778single nucleotide variantNM_020713.3(ZNF512B):c.222G>T (p.Lys74Asn)not specified [RCV004492179]uncertain significance206396742363967423Humanname
597708773CV3638723single nucleotide variantNM_020713.3(ZNF512B):c.199G>A (p.Asp67Asn)not specified [RCV004886496]uncertain significance206396744663967446Humanname
598246045CV3934801single nucleotide variantNM_020713.3(ZNF512B):c.113C>T (p.Pro38Leu)not specified [RCV005297688]uncertain significance206396783863967838Humanname
598172018CV3934804single nucleotide variantNM_020713.3(ZNF512B):c.185G>A (p.Gly62Glu)not specified [RCV005309320]uncertain significance206396746063967460Humanname
598246059CV3934807single nucleotide variantNM_020713.3(ZNF512B):c.227G>A (p.Arg76Gln)not specified [RCV005297690]uncertain significance206396741863967418Humanname
156088409CV2201983single nucleotide variantNM_020713.3(ZNF512B):c.329C>T (p.Ser110Leu)not specified [RCV004075909]uncertain significance206396694063966940Humanname
155994980CV2249394single nucleotide variantNM_020713.3(ZNF512B):c.838A>C (p.Lys280Gln)not specified [RCV004120188]uncertain significance206396633763966337Humanname
156175306CV2299570single nucleotide variantNM_020713.3(ZNF512B):c.410G>A (p.Arg137His)not specified [RCV004154900]uncertain significance206396676563966765Humanname
156268663CV2305780single nucleotide variantNM_020713.3(ZNF512B):c.866C>T (p.Pro289Leu)not specified [RCV004167586]uncertain significance206396630963966309Humanname
329376165CV2438004single nucleotide variantNM_020713.3(ZNF512B):c.497G>A (p.Arg166Gln)not specified [RCV004263714]uncertain significance206396667863966678Humanname
329359981CV2462384single nucleotide variantNM_020713.3(ZNF512B):c.914C>T (p.Pro305Leu)not specified [RCV004268149]uncertain significance206396626163966261Humanname
329399762CV2467636single nucleotide variantNM_020713.3(ZNF512B):c.841C>T (p.Leu281Phe)not specified [RCV004287489]uncertain significance206396633463966334Humanname
329392194CV2470462single nucleotide variantNM_020713.3(ZNF512B):c.348C>G (p.Phe116Leu)not specified [RCV004273487]uncertain significance206396692163966921Humanname
401875138CV2756246single nucleotide variantNM_020713.3(ZNF512B):c.476G>A (p.Arg159Gln)not specified [RCV004338342]uncertain significance206396669963966699Humanname
401892627CV2782273single nucleotide variantNM_020713.3(ZNF512B):c.614G>A (p.Gly205Asp)not specified [RCV004359237]uncertain significance206396656163966561Humanname
405279791CV3191475single nucleotide variantNM_020713.3(ZNF512B):c.532A>G (p.Arg178Gly)ZNF512B-related disorder [RCV003919628]likely benign206396664363966643Humanname , trait , alternate_id
405287477CV3217768single nucleotide variantNM_020713.3(ZNF512B):c.862G>A (p.Val288Met)ZNF512B-related disorder [RCV003981891]benign206396631363966313Humanname , trait , alternate_id
405699578CV3350787single nucleotide variantNM_020713.3(ZNF512B):c.422C>G (p.Pro141Arg)not specified [RCV004492188]uncertain significance206396675363966753Humanname
405699572CV3350788single nucleotide variantNM_020713.3(ZNF512B):c.486C>A (p.Asn162Lys)not specified [RCV004492189]uncertain significance206396668963966689Humanname
405699568CV3350789single nucleotide variantNM_020713.3(ZNF512B):c.577G>A (p.Gly193Arg)not specified [RCV004492190]uncertain significance206396659863966598Humanname
405699562CV3350790single nucleotide variantNM_020713.3(ZNF512B):c.586A>G (p.Lys196Glu)not specified [RCV004492191]uncertain significance206396658963966589Humanname
405699325CV3350794single nucleotide variantNM_020713.3(ZNF512B):c.608C>A (p.Pro203His)not specified [RCV004492195]uncertain significance206396656763966567Humanname
405699329CV3350795single nucleotide variantNM_020713.3(ZNF512B):c.806C>T (p.Pro269Leu)not specified [RCV004492196]uncertain significance206396636963966369Humanname
405699334CV3350796single nucleotide variantNM_020713.3(ZNF512B):c.854C>T (p.Thr285Met)not specified [RCV004492197]uncertain significance206396632163966321Humanname
407470218CV3420744single nucleotide variantNM_020713.3(ZNF512B):c.409C>T (p.Arg137Cys)not specified [RCV004599603]uncertain significance206396676663966766Humanname
407470226CV3420746single nucleotide variantNM_020713.3(ZNF512B):c.694A>G (p.Arg232Gly)not specified [RCV004599605]uncertain significance206396648163966481Humanname
597708525CV3638719single nucleotide variantNM_020713.3(ZNF512B):c.986C>T (p.Ser329Leu)not specified [RCV004886492]uncertain significance206396618963966189Humanname
597708536CV3638720single nucleotide variantNM_020713.3(ZNF512B):c.890G>C (p.Ser297Thr)not specified [RCV004886493]uncertain significance206396628563966285Humanname
597708823CV3638728single nucleotide variantNM_020713.3(ZNF512B):c.814G>A (p.Val272Ile)not specified [RCV004886501]likely benign206396636163966361Humanname
597708833CV3638729single nucleotide variantNM_020713.3(ZNF512B):c.974T>C (p.Leu325Pro)not specified [RCV004886502]uncertain significance206396620163966201Humanname
598172008CV3934799single nucleotide variantNM_020713.3(ZNF512B):c.551G>A (p.Arg184Gln)not specified [RCV005309318]uncertain significance206396662463966624Humanname
598172029CV3934806single nucleotide variantNM_020713.3(ZNF512B):c.643C>T (p.Pro215Ser)not specified [RCV005309322]uncertain significance206396653263966532Humanname
598246067CV3934808single nucleotide variantNM_020713.3(ZNF512B):c.898A>G (p.Ile300Val)not specified [RCV005297691]uncertain significance206396627763966277Humanname
155925357CV2230416single nucleotide variantNM_020713.3(ZNF512B):c.2161C>T (p.Arg721Trp)not specified [RCV004095872]uncertain significance206396258963962589Humanname
156074323CV2264002single nucleotide variantNM_020713.3(ZNF512B):c.2585C>T (p.Pro862Leu)not specified [RCV004138025]likely benign206395998263959982Humanname
156171410CV2267673single nucleotide variantNM_020713.3(ZNF512B):c.1249C>T (p.Arg417Cys)not specified [RCV004134222]uncertain significance206396450263964502Humanname
156096854CV2294411single nucleotide variantNM_020713.3(ZNF512B):c.1936G>A (p.Asp646Asn)not specified [RCV004159921]uncertain significance206396312763963127Humanname
156272161CV2299569single nucleotide variantNM_020713.3(ZNF512B):c.1580A>G (p.Lys527Arg)not specified [RCV004154899]uncertain significance206396381463963814Humanname
156070871CV2325145single nucleotide variantNM_020713.3(ZNF512B):c.1192G>A (p.Gly398Ser)not specified [RCV004177570]uncertain significance206396455963964559Humanname
155986772CV2363707single nucleotide variantNM_020713.3(ZNF512B):c.2126G>A (p.Arg709Gln)not specified [RCV004216652]uncertain significance206396262463962624Humanname
155990033CV2371999single nucleotide variantNM_020713.3(ZNF512B):c.1540A>G (p.Thr514Ala)not specified [RCV004221674]uncertain significance206396385463963854Humanname
156057730CV2383248single nucleotide variantNM_020713.3(ZNF512B):c.1570G>A (p.Val524Met)not specified [RCV004222302]uncertain significance206396382463963824Humanname
155966605CV2396093single nucleotide variantNM_020713.3(ZNF512B):c.1405G>A (p.Ala469Thr)not specified [RCV004237626]uncertain significance206396414663964146Humanname
329367187CV2427263single nucleotide variantNM_020713.3(ZNF512B):c.1202C>T (p.Ala401Val)not specified [RCV004248128]uncertain significance206396454963964549Humanname
329354006CV2436764single nucleotide variantNM_020713.3(ZNF512B):c.1862C>T (p.Pro621Leu)not specified [RCV004260173]uncertain significance206396320163963201Humanname
329397356CV2466079single nucleotide variantNM_020713.3(ZNF512B):c.1178G>A (p.Ser393Asn)not specified [RCV004277965]uncertain significance206396457363964573Humanname
401736000CV2689232single nucleotide variantNM_020713.3(ZNF512B):c.1913C>G (p.Thr638Arg)not specified [RCV004306077]uncertain significance206396315063963150Humanname
401775773CV2692491single nucleotide variantNM_020713.3(ZNF512B):c.2437C>G (p.Arg813Gly)not specified [RCV004312242]uncertain significance206396013063960130Humanname
401770558CV2726187single nucleotide variantNM_020713.3(ZNF512B):c.2551C>T (p.Arg851Trp)not specified [RCV004326664]uncertain significance206396001663960016Humanname
401856973CV2759903single nucleotide variantNM_020713.3(ZNF512B):c.2192C>T (p.Thr731Met)not specified [RCV004345330]uncertain significance206396234663962346Humanname
405276733CV3193475single nucleotide variantNM_020713.3(ZNF512B):c.1357G>A (p.Ala453Thr)ZNF512B-related disorder [RCV003974643]benign206396419463964194Humanname , trait , alternate_id
405290670CV3200934single nucleotide variantNM_020713.3(ZNF512B):c.1114A>G (p.Met372Val)ZNF512B-related disorder [RCV003984598]benign206396463763964637Humanname , trait , alternate_id
405289138CV3204932single nucleotide variantNM_020713.3(ZNF512B):c.2332G>T (p.Ala778Ser)ZNF512B-related disorder [RCV003961575]likely benign206396140463961404Humanname , trait , alternate_id
405292946CV3207057single nucleotide variantNM_020713.3(ZNF512B):c.1222G>A (p.Ala408Thr)ZNF512B-related disorder [RCV003931471]benign206396452963964529Humanname , trait , alternate_id
405699683CV3350771single nucleotide variantNM_020713.3(ZNF512B):c.1219C>T (p.Pro407Ser)not specified [RCV004492172]uncertain significance206396453263964532Humanname
405699672CV3350773single nucleotide variantNM_020713.3(ZNF512B):c.1446G>T (p.Lys482Asn)not specified [RCV004492174]uncertain significance206396410563964105Humanname
405699664CV3350774single nucleotide variantNM_020713.3(ZNF512B):c.1532T>G (p.Val511Gly)not specified [RCV004492175]uncertain significance206396386263963862Humanname
405699658CV3350775single nucleotide variantNM_020713.3(ZNF512B):c.1712A>C (p.Glu571Ala)not specified [RCV004492176]uncertain significance206396342763963427Humanname
405699650CV3350776single nucleotide variantNM_020713.3(ZNF512B):c.1742G>A (p.Arg581His)not specified [RCV004492177]uncertain significance206396339763963397Humanname
405699628CV3350779single nucleotide variantNM_020713.3(ZNF512B):c.2333C>T (p.Ala778Val)not specified [RCV004492180]uncertain significance206396140363961403Humanname
405699622CV3350780single nucleotide variantNM_020713.3(ZNF512B):c.2353C>T (p.Arg785Cys)not specified [RCV004492181]likely benign206396138363961383Humanname
405699615CV3350781single nucleotide variantNM_020713.3(ZNF512B):c.2474A>G (p.Gln825Arg)not specified [RCV004492182]uncertain significance206396009363960093Humanname
405699609CV3350782single nucleotide variantNM_020713.3(ZNF512B):c.2590C>T (p.Arg864Trp)not specified [RCV004492183]uncertain significance206395997763959977Humanname
405699604CV3350783single nucleotide variantNM_020713.3(ZNF512B):c.2591G>A (p.Arg864Gln)not specified [RCV004492184]likely benign206395997663959976Humanname
405699598CV3350784single nucleotide variantNM_020713.3(ZNF512B):c.2650G>A (p.Val884Met)not specified [RCV004492185]uncertain significance206395991763959917Humanname
407468194CV3420742single nucleotide variantNM_020713.3(ZNF512B):c.1531G>A (p.Val511Ile)not specified [RCV004614626]uncertain significance206396386363963863Humanname
407470222CV3420745single nucleotide variantNM_020713.3(ZNF512B):c.1143T>G (p.Ser381Arg)not specified [RCV004599604]uncertain significance206396460863964608Humanname
597708497CV3638716single nucleotide variantNM_020713.3(ZNF512B):c.2369C>T (p.Pro790Leu)not specified [RCV004886489]uncertain significance206396136763961367Humanname
597708506CV3638717single nucleotide variantNM_020713.3(ZNF512B):c.1169C>T (p.Ser390Leu)not specified [RCV004886490]uncertain significance206396458263964582Humanname
597708515CV3638718single nucleotide variantNM_020713.3(ZNF512B):c.1711G>A (p.Glu571Lys)not specified [RCV004886491]uncertain significance206396342863963428Humanname
597708543CV3638721single nucleotide variantNM_020713.3(ZNF512B):c.1061C>T (p.Pro354Leu)not specified [RCV004886494]uncertain significance206396469063964690Humanname
597708764CV3638722single nucleotide variantNM_020713.3(ZNF512B):c.2452C>G (p.Pro818Ala)not specified [RCV004886495]uncertain significance206396011563960115Humanname
597708793CV3638725single nucleotide variantNM_020713.3(ZNF512B):c.1348G>A (p.Glu450Lys)not specified [RCV004886498]uncertain significance206396420363964203Humanname
597708803CV3638726single nucleotide variantNM_020713.3(ZNF512B):c.1448A>G (p.Glu483Gly)not specified [RCV004886499]uncertain significance206396410363964103Humanname
597708814CV3638727single nucleotide variantNM_020713.3(ZNF512B):c.2263G>A (p.Asp755Asn)not specified [RCV004886500]uncertain significance206396227563962275Humanname
597708857CV3638731single nucleotide variantNM_020713.3(ZNF512B):c.2215G>T (p.Ala739Ser)not specified [RCV004886504]uncertain significance206396232363962323Humanname
597708869CV3638732single nucleotide variantNM_020713.3(ZNF512B):c.1460C>T (p.Pro487Leu)not specified [RCV004886505]uncertain significance206396409163964091Humanname
598171993CV3934795single nucleotide variantNM_020713.3(ZNF512B):c.2248G>A (p.Val750Ile)not specified [RCV005309315]uncertain significance206396229063962290Humanname
598246031CV3934796single nucleotide variantNM_020713.3(ZNF512B):c.1850G>A (p.Arg617His)not specified [RCV005297686]uncertain significance206396321363963213Humanname
598171997CV3934797single nucleotide variantNM_020713.3(ZNF512B):c.1518G>C (p.Glu506Asp)not specified [RCV005309316]uncertain significance206396387663963876Humanname
598172002CV3934798single nucleotide variantNM_020713.3(ZNF512B):c.2531G>A (p.Arg844Gln)not specified [RCV005309317]uncertain significance206396003663960036Humanname
598246039CV3934800single nucleotide variantNM_020713.3(ZNF512B):c.1319C>G (p.Thr440Ser)not specified [RCV005297687]uncertain significance206396433463964334Humanname
598172013CV3934803single nucleotide variantNM_020713.3(ZNF512B):c.2155A>G (p.Thr719Ala)not specified [RCV005309319]uncertain significance206396259563962595Humanname
598172024CV3934805single nucleotide variantNM_020713.3(ZNF512B):c.2152G>A (p.Glu718Lys)not specified [RCV005309321]uncertain significance206396259863962598Humanname
598246074CV3934809single nucleotide variantNM_020713.3(ZNF512B):c.1784G>A (p.Arg595His)not specified [RCV005297692]uncertain significance206396335563963355Humanname