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67 records found for search term Mark3
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RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
150531014CV1311402single nucleotide variantNM_001128918.3(MARK3):c.413-4A>GMARK3-related disorder [RCV003976170]|Visual impairment and progressive phthisis bulbi [RCV001775510]|not provided [RCV004716801]benign14103457138103457138Human1name , trait , alternate_id
405258026CV3208092single nucleotide variantNM_001128918.3(MARK3):c.412+4A>TMARK3-related disorder [RCV003941544]likely benign14103451987103451987Humanname , trait , alternate_id
405290342CV3207477single nucleotide variantNM_001128918.3(MARK3):c.1586+4G>CMARK3-related disorder [RCV003927058]likely benign14103480494103480494Humanname , trait , alternate_id
151728611CV1335219single nucleotide variantNM_001128918.3(MARK3):c.1917-11A>Gnot specified [RCV001844537]uncertain significance14103502871103502871Humanname
405286418CV3192122single nucleotide variantNM_001128918.3(MARK3):c.150A>G (p.Gln50=)MARK3-related disorder [RCV003924037]likely benign14103405174103405174Humanname , trait , alternate_id
407494849CV3456896single nucleotide variantNM_001128918.3(MARK3):c.26C>T (p.Thr9Met)not specified [RCV004643084]uncertain significance14103386055103386055Humanname
405658452CV3281656single nucleotide variantNM_001128918.3(MARK3):c.43A>G (p.Thr15Ala)not specified [RCV004416477]uncertain significance14103386072103386072Humanname
8635109CV90331single nucleotide variantNM_001128918.2(MARK3):c.339C>T (p.Pro113=)Malignant melanoma [RCV000070429]not provided14103448960103448960Humanname
126912752CV1038270single nucleotide variantNM_001128918.3(MARK3):c.125C>T (p.Ser42Phe)not provided [RCV001356766]uncertain significance14103405149103405149Humanname
155997499CV2398722single nucleotide variantNM_001128918.3(MARK3):c.113G>A (p.Arg38Gln)not specified [RCV004240062]uncertain significance14103405137103405137Humanname
401727871CV2678536single nucleotide variantNM_001128918.3(MARK3):c.296A>G (p.Lys99Arg)not specified [RCV004292548]uncertain significance14103428439103428439Humanname
405284706CV3190527single nucleotide variantNM_001128918.3(MARK3):c.1293G>A (p.Ala431=)MARK3-related disorder [RCV003909334]benign14103475021103475021Humanname , trait , alternate_id
405275132CV3204654single nucleotide variantNM_001128918.3(MARK3):c.1896C>T (p.Asn632=)MARK3-related disorder [RCV003952057]likely benign14103500180103500180Humanname , trait , alternate_id
405255904CV3208427single nucleotide variantNM_001128918.3(MARK3):c.1389G>A (p.Lys463=)MARK3-related disorder [RCV003939525]benign14103475117103475117Humanname , trait , alternate_id
405294306CV3214822single nucleotide variantNM_001128918.3(MARK3):c.1875T>C (p.Leu625=)MARK3-related disorder [RCV003934236]likely benign14103500159103500159Humanname , trait , alternate_id
405272464CV3221873single nucleotide variantNM_001128918.3(MARK3):c.1314C>A (p.Thr438=)MARK3-related disorder [RCV003972191]benign14103475042103475042Humanname , trait , alternate_id
405658433CV3281649single nucleotide variantNM_001128918.3(MARK3):c.146A>C (p.Glu49Ala)not specified [RCV004416470]uncertain significance14103405170103405170Humanname
405658436CV3281650single nucleotide variantNM_001128918.3(MARK3):c.151C>T (p.Pro51Ser)not specified [RCV004416471]uncertain significance14103405175103405175Humanname
598176966CV3985511single nucleotide variantNM_001128918.3(MARK3):c.222A>C (p.Arg74Ser)not specified [RCV005371512]uncertain significance14103405246103405246Humanname
405292029CV3207851single nucleotide variantNM_001128918.3(MARK3):c.886G>C (p.Gly296Arg)MARK3-related disorder [RCV003929527]likely benign14103466080103466080Humanname , trait , alternate_id
405658455CV3281657single nucleotide variantNM_001128918.3(MARK3):c.785G>A (p.Arg262Lys)not specified [RCV004416478]uncertain significance14103465979103465979Humanname
405658458CV3281658single nucleotide variantNM_001128918.3(MARK3):c.886G>A (p.Gly296Ser)not specified [RCV004416479]uncertain significance14103466080103466080Humanname
405658461CV3281659single nucleotide variantNM_001128918.3(MARK3):c.914G>A (p.Arg305Lys)not specified [RCV004416480]uncertain significance14103466359103466359Humanname
405658464CV3281660single nucleotide variantNM_001128918.3(MARK3):c.968A>G (p.Glu323Gly)not specified [RCV004416481]uncertain significance14103466413103466413Humanname
407469256CV3456898single nucleotide variantNM_001128918.3(MARK3):c.623A>G (p.Lys208Arg)not specified [RCV004636563]uncertain significance14103465639103465639Humanname
598198954CV3985512single nucleotide variantNM_001128918.3(MARK3):c.364A>T (p.Ile122Phe)not specified [RCV005375626]uncertain significance14103451935103451935Humanname
598176985CV3985516single nucleotide variantNM_001128918.3(MARK3):c.758T>C (p.Phe253Ser)not specified [RCV005371516]uncertain significance14103465774103465774Humanname
156175232CV2205231single nucleotide variantNM_001128918.3(MARK3):c.1922A>G (p.Asn641Ser)not specified [RCV004079860]uncertain significance14103502887103502887Humanname
156149349CV2234765single nucleotide variantNM_001128918.3(MARK3):c.2037C>G (p.Ile679Met)not specified [RCV004111210]uncertain significance14103503002103503002Humanname
156037168CV2250143single nucleotide variantNM_001128918.3(MARK3):c.2216C>T (p.Ala739Val)not specified [RCV004116951]uncertain significance14103503181103503181Humanname
156180955CV2298498single nucleotide variantNM_001128918.3(MARK3):c.1715G>A (p.Arg572Gln)not specified [RCV004162162]uncertain significance14103491905103491905Humanname
156251768CV2311321single nucleotide variantNM_001128918.3(MARK3):c.2065G>T (p.Asp689Tyr)not specified [RCV004166392]uncertain significance14103503030103503030Humanname
156052615CV2320317single nucleotide variantNM_001128918.3(MARK3):c.2029C>T (p.Arg677Trp)not specified [RCV004178479]uncertain significance14103502994103502994Humanname
156362460CV2330201single nucleotide variantNM_001128918.3(MARK3):c.1298C>T (p.Pro433Leu)not specified [RCV004187663]uncertain significance14103475026103475026Humanname
156186169CV2346582single nucleotide variantNM_001128918.3(MARK3):c.2035A>G (p.Ile679Val)not specified [RCV004206494]uncertain significance14103503000103503000Humanname
155906353CV2357307single nucleotide variantNM_001128918.3(MARK3):c.1142A>G (p.Asn381Ser)not specified [RCV004200199]uncertain significance14103468064103468064Humanname
156012224CV2358869single nucleotide variantNM_001128918.3(MARK3):c.1168A>C (p.Ser390Arg)not specified [RCV004212212]uncertain significance14103468090103468090Humanname
156402668CV2371377single nucleotide variantNM_001128918.3(MARK3):c.1117G>T (p.Ala373Ser)not specified [RCV004223378]uncertain significance14103468039103468039Humanname
155933658CV2372317single nucleotide variantNM_001128918.3(MARK3):c.1708C>T (p.Arg570Trp)not specified [RCV004217090]uncertain significance14103491898103491898Humanname
156265907CV2389111single nucleotide variantNM_001128918.3(MARK3):c.1661G>A (p.Arg554His)not specified [RCV004235445]uncertain significance14103491851103491851Humanname
401737644CV2679933single nucleotide variantNM_001128918.3(MARK3):c.1901G>C (p.Arg634Thr)not specified [RCV004284214]uncertain significance14103500185103500185Humanname
401868702CV2767315single nucleotide variantNM_001128918.3(MARK3):c.1297C>G (p.Pro433Ala)not specified [RCV004349482]uncertain significance14103475025103475025Humanname
401891562CV2769047single nucleotide variantNM_001128918.3(MARK3):c.1385G>A (p.Gly462Glu)not specified [RCV004348915]uncertain significance14103475113103475113Humanname
405292447CV3196329single nucleotide variantNM_001128918.3(MARK3):c.2201C>T (p.Ser734Leu)MARK3-related disorder [RCV003964515]likely benign14103503166103503166Humanname , trait , alternate_id
405282959CV3216927single nucleotide variantNM_001128918.3(MARK3):c.1327A>G (p.Ser443Gly)MARK3-related disorder [RCV003979088]benign14103475055103475055Humanname , trait , alternate_id
405658430CV3281648single nucleotide variantNM_001128918.3(MARK3):c.1003A>G (p.Met335Val)not specified [RCV004416469]uncertain significance14103467084103467084Humanname
405658437CV3281651single nucleotide variantNM_001128918.3(MARK3):c.1636A>G (p.Ser546Gly)not specified [RCV004416472]uncertain significance14103491826103491826Humanname
405658440CV3281652single nucleotide variantNM_001128918.3(MARK3):c.1699G>C (p.Gly567Arg)not specified [RCV004416473]uncertain significance14103491889103491889Humanname
405658443CV3281653single nucleotide variantNM_001128918.3(MARK3):c.2097C>G (p.Phe699Leu)not specified [RCV004416474]uncertain significance14103503062103503062Humanname
405658444CV3281654single nucleotide variantNM_001128918.3(MARK3):c.2199A>G (p.Ile733Met)not specified [RCV004416475]uncertain significance14103503164103503164Humanname
405658449CV3281655single nucleotide variantNM_001128918.3(MARK3):c.2206A>G (p.Thr736Ala)not specified [RCV004416476]uncertain significance14103503171103503171Humanname
407469253CV3456893single nucleotide variantNM_001128918.3(MARK3):c.2084G>A (p.Arg695His)not specified [RCV004636562]uncertain significance14103503049103503049Humanname
407494840CV3456894single nucleotide variantNM_001128918.3(MARK3):c.1381G>A (p.Gly461Arg)not specified [RCV004643082]uncertain significance14103475109103475109Humanname
407494844CV3456895single nucleotide variantNM_001128918.3(MARK3):c.1490C>T (p.Thr497Ile)not specified [RCV004643083]uncertain significance14103480394103480394Humanname
407494854CV3456897single nucleotide variantNM_001128918.3(MARK3):c.1214T>C (p.Val405Ala)not specified [RCV004643085]uncertain significance14103468136103468136Humanname
597636597CV3697616single nucleotide variantNM_001128918.3(MARK3):c.1268G>A (p.Gly423Glu)not specified [RCV004940813]uncertain significance14103474996103474996Humanname
597636602CV3697617single nucleotide variantNM_001128918.3(MARK3):c.1130G>C (p.Ser377Thr)not specified [RCV004940814]uncertain significance14103468052103468052Humanname
597636608CV3697618single nucleotide variantNM_001128918.3(MARK3):c.2008A>G (p.Met670Val)not specified [RCV004940815]uncertain significance14103502973103502973Humanname
597636612CV3697619single nucleotide variantNM_001128918.3(MARK3):c.1718G>T (p.Arg573Leu)not specified [RCV004940816]uncertain significance14103491908103491908Humanname
597636617CV3697620single nucleotide variantNM_001128918.3(MARK3):c.1864A>C (p.Ile622Leu)not specified [RCV004940817]uncertain significance14103498521103498521Humanname
597636622CV3697621single nucleotide variantNM_001128918.3(MARK3):c.1649C>T (p.Pro550Leu)not specified [RCV004940818]uncertain significance14103491839103491839Humanname
597636627CV3697622single nucleotide variantNM_001128918.3(MARK3):c.2246A>G (p.Asn749Ser)not specified [RCV004940819]uncertain significance14103503211103503211Humanname
598176970CV3985513single nucleotide variantNM_001128918.3(MARK3):c.2105A>G (p.His702Arg)not specified [RCV005371513]uncertain significance14103503070103503070Humanname
598176974CV3985514single nucleotide variantNM_001128918.3(MARK3):c.1006G>A (p.Val336Met)not specified [RCV005371514]uncertain significance14103467087103467087Humanname
598176979CV3985515single nucleotide variantNM_001128918.3(MARK3):c.1762C>T (p.His588Tyr)not specified [RCV005371515]uncertain significance14103491952103491952Humanname
598198963CV3985517single nucleotide variantNM_001128918.3(MARK3):c.1116T>G (p.Asp372Glu)not specified [RCV005375627]uncertain significance14103468038103468038Humanname
14349859CV590746single nucleotide variantNM_001128918.3(MARK3):c.1708C>G (p.Arg570Gly)Visual impairment and progressive phthisis bulbi [RCV000736034]pathogenic14103491898103491898Human1name