Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Pathways
Variants search result for Homo sapiens
(View Results for all Objects and Ontologies)


37 records found for search term Usp14
Refine Term:
Assembly:
    Chr  
Sort By:
           Export CSV TAB Print

RGD IDSymbolVariant TypeNameTraitClinical SignificanceChrStartStopSpeciesAnnotationsMatch
15136953CV776588single nucleotide variantNM_005151.4(USP14):c.17-3C>Tnot provided [RCV000943159]likely benign18163305163305Humanname
15192982CV776768single nucleotide variantNM_005151.4(USP14):c.17-6T>Cnot provided [RCV000933238]likely benign18163302163302Humanname
150474373CV1217791single nucleotide variantNM_005151.4(USP14):c.943-17A>Cnot provided [RCV001615802]benign18203081203081Humanname
15097646CV727656single nucleotide variantNM_005151.4(USP14):c.105G>A (p.Ala35=)not provided [RCV000891550]benign18163396163396Humanname
401865655CV2778861single nucleotide variantNM_005151.4(USP14):c.50G>A (p.Gly17Asp)not specified [RCV004346750]uncertain significance18163341163341Humanname
405814655CV3341639single nucleotide variantNM_005151.4(USP14):c.79A>G (p.Met27Val)not specified [RCV004484525]uncertain significance18163370163370Humanname
598275132CV3936452single nucleotide variantNM_005151.4(USP14):c.29G>T (p.Trp10Leu)not specified [RCV005304275]uncertain significance18163320163320Humanname
156267332CV2296621single nucleotide variantNM_005151.4(USP14):c.227A>T (p.Asp76Val)not specified [RCV004154679]uncertain significance18178964178964Humanname
156038956CV2313693single nucleotide variantNM_005151.4(USP14):c.136G>A (p.Val46Ile)not specified [RCV004157611]uncertain significance18163427163427Humanname
401866797CV2759009single nucleotide variantNM_005151.4(USP14):c.281A>G (p.Glu94Gly)not specified [RCV004342318]uncertain significance18179018179018Humanname
598275136CV3936454single nucleotide variantNM_005151.4(USP14):c.226G>C (p.Asp76His)not specified [RCV005304277]uncertain significance18178963178963Humanname
15097960CV704547single nucleotide variantNM_005151.4(USP14):c.1395G>T (p.Arg465=)not provided [RCV000958438]benign18211194211194Humanname
15168653CV715894single nucleotide variantNM_005151.4(USP14):c.1074G>C (p.Leu358=)not provided [RCV000971659]benign18204602204602Humanname
15123076CV715895single nucleotide variantNM_005151.4(USP14):c.1428C>T (p.Tyr476=)not provided [RCV000963178]likely benign18211227211227Humanname
15122510CV741305single nucleotide variantNM_005151.4(USP14):c.1293T>C (p.Ser431=)not provided [RCV000896251]benign18210453210453Humanname
15126117CV756384single nucleotide variantNM_005151.4(USP14):c.1057T>C (p.Leu353=)not provided [RCV000919269]likely benign18204585204585Humanname
15199484CV756385single nucleotide variantNM_005151.4(USP14):c.1314A>G (p.Ser438=)not provided [RCV000912560]likely benign18210474210474Humanname
15104884CV756386single nucleotide variantNM_005151.4(USP14):c.1386T>C (p.Asp462=)not provided [RCV000915437]likely benign18211185211185Humanname
156363536CV2265757single nucleotide variantNM_005151.4(USP14):c.851A>T (p.Lys284Met)not specified [RCV004124465]uncertain significance18199291199291Humanname
329375987CV2467406single nucleotide variantNM_005151.4(USP14):c.835A>G (p.Ile279Val)not specified [RCV004287024]uncertain significance18199275199275Humanname
401877124CV2793356single nucleotide variantNM_005151.4(USP14):c.736T>A (p.Phe246Ile)not specified [RCV004362166]uncertain significance18198107198107Humanname
405814652CV3341637single nucleotide variantNM_005151.4(USP14):c.677C>G (p.Thr226Arg)not specified [RCV004484523]uncertain significance18198048198048Humanname
405814654CV3341638single nucleotide variantNM_005151.4(USP14):c.704C>A (p.Thr235Lys)not specified [RCV004484524]uncertain significance18198075198075Humanname
407462603CV3487419single nucleotide variantNM_005151.4(USP14):c.521T>C (p.Ile174Thr)not specified [RCV004688017]uncertain significance18196694196694Humanname
407455244CV3487421single nucleotide variantNM_005151.4(USP14):c.791A>T (p.Glu264Val)not specified [RCV004685433]uncertain significance18199231199231Humanname
597798380CV3626109single nucleotide variantNM_005151.4(USP14):c.464C>G (p.Ala155Gly)not specified [RCV004879159]uncertain significance18196637196637Humanname
598275134CV3936453single nucleotide variantNM_005151.4(USP14):c.902A>T (p.Gln301Leu)not specified [RCV005304276]uncertain significance18202905202905Humanname
598275140CV3936456single nucleotide variantNM_005151.4(USP14):c.452A>G (p.Tyr151Cys)not specified [RCV005304279]uncertain significance18192889192889Humanname
598203538CV3936457single nucleotide variantNM_005151.4(USP14):c.989G>A (p.Arg330Gln)not specified [RCV005290550]uncertain significance18203144203144Humanname
401753736CV2722569single nucleotide variantNM_005151.4(USP14):c.1447C>T (p.Arg483Cys)not specified [RCV004322943]uncertain significance18211246211246Humanname
401758116CV2731696single nucleotide variantNM_005151.4(USP14):c.1463T>A (p.Met488Lys)not specified [RCV004331799]uncertain significance18211262211262Humanname
405814649CV3341635single nucleotide variantNM_005151.4(USP14):c.1055T>C (p.Met352Thr)not specified [RCV004484521]uncertain significance18204583204583Humanname
405814650CV3341636single nucleotide variantNM_005151.4(USP14):c.1195G>A (p.Val399Ile)not specified [RCV004484522]uncertain significance18210001210001Humanname
407455248CV3487418single nucleotide variantNM_005151.4(USP14):c.1229T>C (p.Ile410Thr)not specified [RCV004685431]uncertain significance18210389210389Humanname
407455246CV3487420single nucleotide variantNM_005151.4(USP14):c.1084G>C (p.Glu362Gln)not specified [RCV004685432]uncertain significance18204612204612Humanname
598275138CV3936455single nucleotide variantNM_005151.4(USP14):c.1253A>G (p.Tyr418Cys)not specified [RCV005304278]uncertain significance18210413210413Humanname
126909828CV1052983deletionNM_005151.4(USP14):c.233_236del (p.Leu78fs)Distal arthrogryposis and CNS involvement [RCV001823201]|See cases [RCV002287499]|not provided [RCV003152626]pathogenic|uncertain significance18178969178972Human1name