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


91 records found for search term Mark2
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15190974CV744724single nucleotide variantNM_001039469.3(MARK2):c.55-5C>Tnot provided [RCV000910109]likely benign116389515463895154Humanname
151717075CV1334846single nucleotide variantNM_001039469.3(MARK2):c.404-1G>ADevelopmental disorder [RCV001843802]likely benign116389876263898762Human1name
156451082CV2402459single nucleotide variantNM_001039469.3(MARK2):c.404-2A>Cnot provided [RCV003123260]uncertain significance116389876163898761Humanname
407428223CV3412417single nucleotide variantNM_001039469.3(MARK2):c.989-1G>AAutism spectrum disorder [RCV004593557]pathogenic116390095663900956Human2name
407428230CV3412423single nucleotide variantNM_001039469.3(MARK2):c.235-2A>GAutism spectrum disorder [RCV004593563]likely pathogenic116389557863895578Human2name
407428246CV3412436single nucleotide variantNM_001039469.3(MARK2):c.337+1G>TAutism spectrum disorder [RCV004593576]pathogenic116389828163898281Human2name
15190978CV777923single nucleotide variantNM_001039469.3(MARK2):c.337+8C>Gnot provided [RCV000954637]likely benign116389828863898288Humanname
407428224CV3412418single nucleotide variantNM_001039469.3(MARK2):c.1101+1G>AAutism spectrum disorder [RCV004593558]pathogenic116390107063901070Human2name
407428226CV3412420single nucleotide variantNM_001039469.3(MARK2):c.1514+2T>GAutism spectrum disorder [RCV004593560]likely pathogenic116390316063903160Human2name
407428234CV3412426single nucleotide variantNM_001039469.3(MARK2):c.1934+1G>AAutism spectrum disorder [RCV004593566]|MARK2-associated neurodevelopmental disorder [RCV005249702]likely pathogenic116390504463905044Human2name , trait
596922065CV3529592single nucleotide variantNM_001039469.3(MARK2):c.2007-1G>Cnot provided [RCV004776468]uncertain significance116390887663908876Humanname
596922491CV3537248single nucleotide variantNM_001039469.3(MARK2):c.1417-2A>Gnot provided [RCV004787218]uncertain significance116390305963903059Humanname
8653158CV129733single nucleotide variantNM_001039469.2(MARK2):c.54+6606A>TLung cancer [RCV000110220]uncertain significance116384616663846166Humanname
15137609CV768525single nucleotide variantNM_001039469.3(MARK2):c.264A>G (p.Gln88=)not provided [RCV000943267]likely benign116389560963895609Humanname
407428245CV3412435duplicationNM_001039469.3(MARK2):c.288dup (p.Leu97fs)Autism spectrum disorder [RCV004593575]pathogenic116389563063895631Human2name
15197660CV724547single nucleotide variantNM_001039469.3(MARK2):c.924C>T (p.His308=)not provided [RCV000890124]benign116390081563900815Humanname
15099211CV768526single nucleotide variantNM_001039469.3(MARK2):c.783G>C (p.Arg261=)not provided [RCV000936443]likely benign116390057363900573Humanname
156203261CV2399678single nucleotide variantNM_001039469.3(MARK2):c.148A>G (p.Ile50Val)not specified [RCV004245497]uncertain significance116389525263895252Humanname
405658425CV3281646single nucleotide variantNM_001039469.3(MARK2):c.156C>G (p.Asn52Lys)not specified [RCV004416467]uncertain significance116389526063895260Humanname
407428219CV3412414single nucleotide variantNM_001039469.3(MARK2):c.211C>T (p.Arg71Ter)Autism spectrum disorder [RCV004593554]|not provided [RCV005412669]pathogenic|likely pathogenic116389531563895315Human2name
407428220CV3412415deletionNM_001039469.3(MARK2):c.812del (p.Phe271fs)Autism spectrum disorder [RCV004593555]pathogenic116390060163900601Human2name
407428243CV3412433single nucleotide variantNM_001039469.3(MARK2):c.239C>T (p.Ala80Val)Autism spectrum disorder [RCV004593573]likely pathogenic116389558463895584Human2name
596922456CV3537233deletionNM_001039469.3(MARK2):c.370del (p.Thr124fs)not provided [RCV004786229]uncertain significance116389863763898637Humanname
15171064CV712982single nucleotide variantNM_001039469.3(MARK2):c.2175C>T (p.Ser725=)not provided [RCV000972127]benign116390904563909045Humanname
15174947CV712983single nucleotide variantNM_001039469.3(MARK2):c.2220G>A (p.Pro740=)not provided [RCV000972830]benign116390909063909090Humanname
15169745CV724548single nucleotide variantNM_001039469.3(MARK2):c.1377C>A (p.Pro459=)not provided [RCV000883333]benign116390274363902743Humanname
156290097CV2299457single nucleotide variantNM_001039469.3(MARK2):c.997G>A (p.Val333Met)not specified [RCV004154536]uncertain significance116390096563900965Humanname
329391422CV2452328single nucleotide variantNM_001039469.3(MARK2):c.398G>A (p.Ser133Asn)not specified [RCV004272661]uncertain significance116389866863898668Humanname
401942674CV2839754single nucleotide variantNM_001039469.3(MARK2):c.457C>T (p.Arg153Ter)not provided [RCV003456618]uncertain significance116389881663898816Humanname
407428221CV3412416single nucleotide variantNM_001039469.3(MARK2):c.905G>A (p.Arg302Gln)Autism spectrum disorder [RCV004593556]uncertain significance116390079663900796Human2name
407428225CV3412419duplicationNM_001039469.3(MARK2):c.1181dup (p.Val395fs)Autism spectrum disorder [RCV004593559]pathogenic116390227563902276Human2name
407428228CV3412421duplicationNM_001039469.3(MARK2):c.1516dup (p.Leu506fs)Autism spectrum disorder [RCV004593561]likely pathogenic116390398563903986Human2name
407428231CV3412424deletionNM_001039469.3(MARK2):c.1769del (p.Gly590fs)Autism spectrum disorder [RCV004593564]pathogenic116390487563904875Human2name
407428232CV3412425duplicationNM_001039469.3(MARK2):c.1888dup (p.Ala630fs)Autism spectrum disorder [RCV004593565]|not provided [RCV004787139]pathogenic|uncertain significance116390499163904992Human2name
407428247CV3412437single nucleotide variantNM_001039469.3(MARK2):c.403G>A (p.Gly135Arg)Autism spectrum disorder [RCV004593577]likely pathogenic116389867363898673Human2name
407428249CV3412438single nucleotide variantNM_001039469.3(MARK2):c.757C>T (p.Gln253Ter)Autism spectrum disorder [RCV004593578]pathogenic116390009963900099Human2name
596922457CV3537234duplicationNM_001039469.3(MARK2):c.1765dup (p.Arg589fs)not provided [RCV004786230]uncertain significance116390486963904870Humanname
596922484CV3537240single nucleotide variantNM_001039469.3(MARK2):c.746C>A (p.Pro249His)not provided [RCV004787210]uncertain significance116390008863900088Humanname
596922532CV3537268deletionNM_001039469.3(MARK2):c.1027del (p.Gln343fs)not provided [RCV004787238]uncertain significance116390099463900994Humanname
596922552CV3537278duplicationNM_001039469.3(MARK2):c.1036dup (p.Leu346fs)not provided [RCV004787248]uncertain significance116390100363901004Humanname
596922562CV3537283duplicationNM_001039469.3(MARK2):c.1644dup (p.Thr549fs)not provided [RCV004787253]uncertain significance116390410963904110Humanname
596922578CV3537292single nucleotide variantNM_001039469.3(MARK2):c.433G>A (p.Gly145Ser)not provided [RCV004787262]uncertain significance116389879263898792Humanname
616935817CV4015967single nucleotide variantNM_001039469.3(MARK2):c.782G>A (p.Arg261Gln)not provided [RCV005414831]uncertain significance116390057263900572Humanname
13706571CV538426deletionNM_001039469.3(MARK2):c.1120del (p.Thr374fs)Autism spectrum disorder [RCV004588086]|not provided [RCV000660627]pathogenic|uncertain significance116390221663902216Human2name
40815844CV970414single nucleotide variantNM_001039469.3(MARK2):c.581T>C (p.Phe194Ser)Autism spectrum disorder [RCV004590287]|not provided [RCV001261929]likely pathogenic|uncertain significance116389992363899923Human2name
40815843CV970415single nucleotide variantNM_001039469.3(MARK2):c.904C>T (p.Arg302Ter)Autism spectrum disorder [RCV004590286]|not provided [RCV001261928]pathogenic|uncertain significance116390079563900795Human2name
156238194CV2193616single nucleotide variantNM_001039469.3(MARK2):c.1714G>A (p.Ala572Thr)not specified [RCV004074221]uncertain significance116390482363904823Humanname
156322348CV2205007single nucleotide variantNM_001039469.3(MARK2):c.2002C>T (p.Leu668Phe)not specified [RCV004077624]uncertain significance116390830063908300Humanname
156077587CV2251569single nucleotide variantNM_001039469.3(MARK2):c.1151C>A (p.Thr384Asn)not specified [RCV004117522]uncertain significance116390224763902247Humanname
156193501CV2296983single nucleotide variantNM_001039469.3(MARK2):c.1184T>C (p.Val395Ala)not specified [RCV004150912]uncertain significance116390228063902280Humanname
156002303CV2347666single nucleotide variantNM_001039469.3(MARK2):c.1166C>T (p.Pro389Leu)not specified [RCV004200599]uncertain significance116390226263902262Humanname
156254518CV2359248single nucleotide variantNM_001039469.3(MARK2):c.2361G>T (p.Lys787Asn)not specified [RCV004212540]uncertain significance116390923163909231Humanname
155930889CV2361282single nucleotide variantNM_001039469.3(MARK2):c.1294G>A (p.Ala432Thr)not specified [RCV004218499]uncertain significance116390266063902660Humanname
155932454CV2400027single nucleotide variantNM_001039469.3(MARK2):c.1898G>A (p.Ser633Asn)not specified [RCV004246950]uncertain significance116390500763905007Humanname
329389226CV2448816single nucleotide variantNM_001039469.3(MARK2):c.1544C>T (p.Thr515Met)not specified [RCV004261504]uncertain significance116390401563904015Humanname
329395129CV2457885single nucleotide variantNM_001039469.3(MARK2):c.1742C>G (p.Ala581Gly)not specified [RCV004271478]uncertain significance116390485163904851Humanname
329393610CV2471998single nucleotide variantNM_001039469.3(MARK2):c.1567T>A (p.Ser523Thr)not specified [RCV004283153]uncertain significance116390403863904038Humanname
401756444CV2687152single nucleotide variantNM_001039469.3(MARK2):c.2230G>A (p.Asp744Asn)not specified [RCV004304452]likely benign116390910063909100Humanname
401720177CV2735651single nucleotide variantNM_001039469.3(MARK2):c.1931G>T (p.Arg644Leu)Seizure [RCV003311623]uncertain significance116390504063905040Human2name
401878721CV2754797single nucleotide variantNM_001039469.3(MARK2):c.2171A>C (p.Gln724Pro)not specified [RCV004341276]uncertain significance116390904163909041Humanname
401893168CV2755927single nucleotide variantNM_001039469.3(MARK2):c.2023A>G (p.Ser675Gly)not specified [RCV004336016]likely benign116390889363908893Humanname
401891515CV2779225single nucleotide variantNM_001039469.3(MARK2):c.1564G>C (p.Val522Leu)not specified [RCV004350913]uncertain significance116390403563904035Humanname
405658427CV3281647single nucleotide variantNM_001039469.3(MARK2):c.1639C>T (p.Pro547Ser)not specified [RCV004416468]uncertain significance116390411063904110Humanname
407428229CV3412422single nucleotide variantNM_001039469.3(MARK2):c.1750C>T (p.Arg584Ter)Autism spectrum disorder [RCV004593562]pathogenic116390485963904859Human2name
407428236CV3412428single nucleotide variantNM_001039469.3(MARK2):c.1990C>T (p.Arg664Ter)Autism spectrum disorder [RCV004593568]likely pathogenic116390828863908288Human2name
407428239CV3412430single nucleotide variantNM_001039469.3(MARK2):c.2239C>T (p.Gln747Ter)Autism spectrum disorder [RCV004593570]pathogenic116390910963909109Human2name
407428240CV3412431single nucleotide variantNM_001039469.3(MARK2):c.2255T>C (p.Val752Ala)Autism spectrum disorder [RCV004593571]likely pathogenic116390912563909125Human2name
407428241CV3412432single nucleotide variantNM_001039469.3(MARK2):c.2291G>C (p.Arg764Pro)Autism spectrum disorder [RCV004593572]likely pathogenic116390916163909161Human2name
407469250CV3456892single nucleotide variantNM_001039469.3(MARK2):c.1771G>A (p.Val591Met)not specified [RCV004636561]uncertain significance116390488063904880Humanname
596922482CV3537238single nucleotide variantNM_001039469.3(MARK2):c.1180A>T (p.Lys394Ter)not provided [RCV004787208]uncertain significance116390227663902276Humanname
596922553CV3537279single nucleotide variantNM_001039469.3(MARK2):c.1801C>T (p.Gln601Ter)not provided [RCV004787249]uncertain significance116390491063904910Humanname
596922558CV3537281duplicationNM_001039469.3(MARK2):c.1260dup (p.Asn421Ter)not provided [RCV004787251]uncertain significance116390262563902626Humanname
596922564CV3537284single nucleotide variantNM_001039469.3(MARK2):c.2081G>T (p.Arg694Leu)not provided [RCV004787254]uncertain significance116390895163908951Humanname
596922566CV3537285single nucleotide variantNM_001039469.3(MARK2):c.1807C>T (p.Arg603Ter)not provided [RCV004787255]uncertain significance116390491663904916Humanname
597636580CV3697613single nucleotide variantNM_001039469.3(MARK2):c.2353G>A (p.Glu785Lys)not specified [RCV004940810]uncertain significance116390922363909223Humanname
597636585CV3697614single nucleotide variantNM_001039469.3(MARK2):c.1007G>A (p.Gly336Asp)not specified [RCV004940811]uncertain significance116390097563900975Humanname
598198929CV3985505single nucleotide variantNM_001039469.3(MARK2):c.1946T>G (p.Phe649Cys)not specified [RCV005375623]uncertain significance116390609963906099Humanname
598176949CV3985506single nucleotide variantNM_001039469.3(MARK2):c.1000T>A (p.Ser334Thr)not specified [RCV005371509]uncertain significance116390096863900968Humanname
598176955CV3985507single nucleotide variantNM_001039469.3(MARK2):c.1559C>G (p.Ala520Gly)not specified [RCV005371510]uncertain significance116390403063904030Humanname
598198939CV3985508single nucleotide variantNM_001039469.3(MARK2):c.2072G>T (p.Arg691Leu)not specified [RCV005375624]uncertain significance116390894263908942Humanname
598176960CV3985509single nucleotide variantNM_001039469.3(MARK2):c.1706C>T (p.Ser569Phe)not specified [RCV005371511]uncertain significance116390481563904815Humanname
15174203CV679106single nucleotide variantNM_001163296.2(MARK2):c.1726G>C (p.Ala576Pro)Esophageal atresia [RCV000984750]uncertain significance116390499763904997Human1name
407428244CV3412434duplicationNM_001039469.3(MARK2):c.258_259dup (p.Thr87fs)Autism spectrum disorder [RCV004593574]likely pathogenic116389560163895602Human2name
596922504CV3537259deletionNM_001039469.3(MARK2):c.530_531del (p.Lys177fs)not provided [RCV004787229]uncertain significance116389910763899108Humanname
617153744CV4016829insertionNM_001039469.3(MARK2):c.645_646insA (p.Ala216fs)Autism [RCV005415921]uncertain significance116389998763899988Human2name
407428235CV3412427deletionNM_001039469.3(MARK2):c.1939_1940del (p.Leu647fs)Autism spectrum disorder [RCV004593567]|Intellectual disability [RCV005410971]likely pathogenic116390609163906092Human4name
407428237CV3412429deletionNM_001039469.3(MARK2):c.2168_2169del (p.Cys723fs)Autism spectrum disorder [RCV004593569]pathogenic116390903863909039Human2name
596922536CV3537270microsatelliteNM_001039469.3(MARK2):c.1773_1774del (p.Ser592fs)not provided [RCV004787240]uncertain significance116390487863904879Humanname
617148346CV4017143microsatelliteNM_001039469.3(MARK2):c.2277_2280del (p.Leu760fs)not provided [RCV005416308]not provided116390914263909145Humanname
617154435CV4022536deletionNM_001039469.3(MARK2):c.2296_2297del (p.Lys766fs)not provided [RCV005429893]uncertain significance116390916663909167Humanname
596922523CV3537263microsatelliteNM_001039469.3(MARK2):c.1659_1660del (p.Cys553_Glu554delinsTer)not provided [RCV004787233]uncertain significance116390412863904129Humanname