WilsonGen,WilsonGen,WilsonGen,WilsonGen,WilsonGen,WilsonGen,WilsonGen,WilsonGen,WilsonGen,WilsonGen,WilsonGen,comprehensive,clinically,annotated,genomic,variant,resource,Wilson's,Disease,Wilson,disease,,WD,,one,prevalent,genetic,diseases,estimated,global,carrier,frequency,1,90,prevalence,1,30,000,disease,owes,genesis,Kinnier,Wilson,described,disease,,caused,accumulation,Copper,,Cu,,various,organs,including,liver,,central,nervous,system,,cornea,,kidney,,joints,cardiac,muscle,contribute,characteristic,clinical,features,WD,number,studies,reported,genetic,variants,ATP7B,gene,diverse,ethnic,geographical,origins,recent,advent,next-generation,sequencing,approaches,also,enabled,discovery,large,number,novel,variants,gene,associated,disease,Previous,attempts,made,compile,knowledgebase,spectrum,genetic,variants,across,multitude,publications,,limited,utility,due,significant,differences,approaches,used,qualify,pathogenicity,variants,publications,recent,formulation,guidelines,algorithms,assessment,pathogenicity,variants,jointly,put,forward,American,College,Medical,Genetics,Association,Molecular,Pathologists,,ACMG,&AMP,,provided,framework,evidence,based,systematic,assessment,pathogenicity,variants,paper,,describe,comprehensive,resource,genetic,variants,ATP7B,gene,manually,curated,literature,data,resources,systematically,annotated,using,ACMG,&,AMP,guidelines,assessing,pathogenicity,resource,therefore,serves,central,point,clinicians,geneticists,working,WD,best,knowledge,comprehensive,clinically,annotated,resource,WD,resource,available,URL,http://clingen.igib.res.in/WilsonGen/,compiled,total,3662,genetic,variants,publications,databases,associated,WD,variants,compiled,,total,1458,found,unique,entries,largest,WD,database,comprising,656,pathogenic/likely,pathogenic,variants,reported,classified,according,ACMG,&,AMP,guidelines,also,mapped,pathogenic,variants,corresponding,ATP7B,protein,literature,databases,addition,,geographical,origin,distribution,ATP7B,pathogenic,variants,reported,also,mapped,database.<br>,WilsonGen,comprehensive,clinically,annotated,genomic,variant,resource,Wilson's,Disease,Wilson,disease,,WD,,one,prevalent,genetic,diseases,estimated,global,carrier,frequency,1,90,prevalence,1,30,000,disease,owes,genesis,Kinnier,Wilson,described,disease,,caused,accumulation,Copper,,Cu,,various,organs,including,liver,,central,nervous,system,,cornea,,kidney,,joints,cardiac,muscle,contribute,characteristic,clinical,features,WD,number,studies,reported,genetic,variants,ATP7B,gene,diverse,ethnic,geographical,origins,recent,advent,next-generation,sequencing,approaches,also,enabled,discovery,large,number,novel,variants,gene,associated,disease,Previous,attempts,made,compile,knowledgebase,spectrum,genetic,variants,across,multitude,publications,,limited,utility,due,significant,differences,approaches,used,qualify,pathogenicity,variants,publications,recent,formulation,guidelines,algorithms,assessment,pathogenicity,variants,jointly,put,forward,American,College,Medical,Genetics,Association,Molecular,Pathologists,,ACMG,&AMP,,provided,framework,evidence,based,systematic,assessment,pathogenicity,variants,paper,,describe,comprehensive,resource,genetic,variants,ATP7B,gene,manually,curated,literature,data,resources,systematically,annotated,using,ACMG,&,AMP,guidelines,assessing,pathogenicity,resource,therefore,serves,central,point,clinicians,geneticists,working,WD,best,knowledge,comprehensive,clinically,annotated,resource,WD,resource,available,URL,http://clingen.igib.res.in/WilsonGen/,compiled,total,3662,genetic,variants,publications,databases,associated,WD,variants,compiled,,total,1458,found,unique,entries,largest,WD,database,comprising,656,pathogenic/likely,pathogenic,variants,reported,classified,according,ACMG,&,AMP,guidelines,also,mapped,pathogenic,variants,corresponding,ATP7B,protein,literature,databases,addition,,geographical,origin,distribution,ATP7B,pathogenic,variants,reported,also,mapped,database.<br>