ARSA — 1220 ClinVar variants

All ClinVar germline ARSA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

146 Pathogenic · 76 Pathogenic/Likely pathogenic · 142 Likely pathogenic · 64 Conflicting · 40 Benign · 8 Benign/Likely benign · 375 Likely benign · 369 Uncertain significance

Full ARSA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All ARSA variants

Pathogenic 146

c.1107+1del Multiple submitters metachromatic leukodystrophy
c.1107+1G>T Multiple submitters metachromatic leukodystrophy
c.1108-2A>G Multiple submitters metachromatic leukodystrophy
c.1210+1G>A Multiple submitters metachromatic leukodystrophy
c.465+1G>A Multiple submitters Inborn genetic diseases
c.684+1G>A Multiple submitters metachromatic leukodystrophy
c.685-2A>G Multiple submitters metachromatic leukodystrophy
c.854+1G>A Multiple submitters metachromatic leukodystrophy
c.854+1G>T Multiple submitters metachromatic leukodystrophy
c.855-1G>A Multiple submitters metachromatic leukodystrophy
c.979+1G>A Multiple submitters metachromatic leukodystrophy
p.Ala12fs Multiple submitters metachromatic leukodystrophy
p.Ala214Pro Multiple submitters metachromatic leukodystrophy
p.Ala214Val Multiple submitters metachromatic leukodystrophy
p.Ala5fs Multiple submitters metachromatic leukodystrophy
p.Arg116Ter Multiple submitters metachromatic leukodystrophy
p.Arg246His Multiple submitters metachromatic leukodystrophy
p.Arg290Cys Multiple submitters spastic ataxia
p.Arg293Ter Multiple submitters metachromatic leukodystrophy
p.Arg313Ter Multiple submitters metachromatic leukodystrophy
p.Arg372Trp Multiple submitters metachromatic leukodystrophy
p.Arg86Gln Multiple submitters metachromatic leukodystrophy
p.Arg86Trp Multiple submitters metachromatic leukodystrophy
p.Arg99fs Multiple submitters metachromatic leukodystrophy
p.Asp257His Multiple submitters metachromatic leukodystrophy
p.Asp37fs Multiple submitters metachromatic leukodystrophy
p.Cys158Ter Multiple submitters metachromatic leukodystrophy
p.Cys302Tyr Multiple submitters metachromatic leukodystrophy
p.Gln159Ter Multiple submitters metachromatic leukodystrophy
p.Gln176Ter Multiple submitters metachromatic leukodystrophy
p.Gln238Ter Multiple submitters metachromatic leukodystrophy
p.Glu255Lys Multiple submitters metachromatic leukodystrophy
p.Glu309Lys Multiple submitters metachromatic leukodystrophy
p.Gly101Val Multiple submitters metachromatic leukodystrophy
p.Gly298fs Multiple submitters metachromatic leukodystrophy
p.Gly310Asp Multiple submitters metachromatic leukodystrophy
p.Gly449fs Multiple submitters metachromatic leukodystrophy
p.His140fs Multiple submitters Inborn genetic diseases
p.His208fs Multiple submitters metachromatic leukodystrophy
p.His399Tyr Multiple submitters metachromatic leukodystrophy
p.Leu102fs Multiple submitters metachromatic leukodystrophy
p.Leu70fs Multiple submitters metachromatic leukodystrophy
p.Phe64_Tyr65insTer Multiple submitters metachromatic leukodystrophy
p.Pro138Leu Multiple submitters metachromatic leukodystrophy
p.Pro138Ser Multiple submitters metachromatic leukodystrophy
p.Pro379Leu Multiple submitters metachromatic leukodystrophy
p.Pro428Leu Multiple submitters Fetal anomalies with a likely genetic cause
p.Ser408_Thr410del Multiple submitters metachromatic leukodystrophy
p.Thr276Met Multiple submitters metachromatic leukodystrophy
p.Thr329Ile Multiple submitters metachromatic leukodystrophy
p.Trp126Ter Multiple submitters metachromatic leukodystrophy
p.Trp195fs Multiple submitters metachromatic leukodystrophy
p.Tyr203Cys Multiple submitters metachromatic leukodystrophy
p.Tyr308His Multiple submitters metachromatic leukodystrophy
c.1107+1G>C Single submitter metachromatic leukodystrophy
c.466-4_482del Single submitter metachromatic leukodystrophy
c.684+2T>C Single submitter metachromatic leukodystrophy
c.685-1G>A Single submitter metachromatic leukodystrophy
c.854+1dup Single submitter metachromatic leukodystrophy
c.855-1G>T Single submitter metachromatic leukodystrophy
c.855-24_907del Single submitter metachromatic leukodystrophy
c.857_*277del Single submitter
c.979+2T>C Single submitter metachromatic leukodystrophy
p.Ala207fs Single submitter metachromatic leukodystrophy
p.Ala344fs Single submitter metachromatic leukodystrophy
p.Ala470fs Single submitter metachromatic leukodystrophy, late infantile form
p.Ala77Pro Single submitter metachromatic leukodystrophy
p.Arg145fs Single submitter metachromatic leukodystrophy
p.Arg82Leu Single submitter metachromatic leukodystrophy
p.Asn284Lys Single submitter metachromatic leukodystrophy
p.Asn352fs Single submitter metachromatic leukodystrophy
p.Asn440fs Single submitter metachromatic leukodystrophy
p.Asp283Asn Single submitter metachromatic leukodystrophy
p.Asp283Glu Single submitter metachromatic leukodystrophy
p.Asp37delinsGluLeuGlyCysTyrGlyHis Single submitter metachromatic leukodystrophy
p.Asp484fs Single submitter metachromatic leukodystrophy
p.Cys163Ser Single submitter metachromatic leukodystrophy
p.Cys40fs Single submitter metachromatic leukodystrophy
p.Gln141fs Single submitter metachromatic leukodystrophy
p.Gln192Ter Single submitter metachromatic leukodystrophy
p.Gln234Ter Single submitter metachromatic leukodystrophy
p.Gln460Ter Single submitter metachromatic leukodystrophy
p.Gln53fs Single submitter metachromatic leukodystrophy
p.Gln53Ter Single submitter metachromatic leukodystrophy
p.Glu426fs Single submitter metachromatic leukodystrophy
p.Gly129Arg Single submitter metachromatic leukodystrophy
p.Gly148Ser Single submitter metachromatic leukodystrophy
p.Gly172Cys Single submitter metachromatic leukodystrophy
p.Gly298Val Single submitter metachromatic leukodystrophy
p.Gly310fs Single submitter metachromatic leukodystrophy
p.Gly310Val Single submitter metachromatic leukodystrophy
p.Gly88fs Single submitter metachromatic leukodystrophy
p.His43fs Single submitter metachromatic leukodystrophy
p.Ile279Lys Single submitter metachromatic leukodystrophy
p.Ile324Phe Single submitter metachromatic leukodystrophy
p.Leu104fs Single submitter metachromatic leukodystrophy
p.Leu183fs Single submitter metachromatic leukodystrophy
p.Leu210Pro Single submitter metachromatic leukodystrophy
p.Leu33Pro Single submitter metachromatic leukodystrophy
p.Leu342fs Single submitter metachromatic leukodystrophy
p.Leu360Pro Single submitter metachromatic leukodystrophy
p.Leu363fs Single submitter metachromatic leukodystrophy
p.Leu375fs Single submitter metachromatic leukodystrophy
p.Leu422fs Single submitter metachromatic leukodystrophy
p.Leu444fs Single submitter metachromatic leukodystrophy
p.Lys125Thr Single submitter metachromatic leukodystrophy
p.Met89fs Single submitter metachromatic leukodystrophy
p.Phe221fs Single submitter metachromatic leukodystrophy
p.Phe240fs Single submitter metachromatic leukodystrophy
p.Phe319del Single submitter metachromatic leukodystrophy
p.Phe319fs Single submitter metachromatic leukodystrophy
p.Phe376fs Single submitter
p.Phe377fs Single submitter metachromatic leukodystrophy
p.Pro132_Gly142del Single submitter metachromatic leukodystrophy
p.Pro138Thr Single submitter metachromatic leukodystrophy
p.Pro150Arg Single submitter metachromatic leukodystrophy
p.Pro182Arg Single submitter metachromatic leukodystrophy
p.Pro349fs Single submitter metachromatic leukodystrophy
p.Pro379fs Single submitter metachromatic leukodystrophy
p.Pro91fs Single submitter metachromatic leukodystrophy
p.Ser244Ter Single submitter metachromatic leukodystrophy
p.Ser297Tyr Single submitter metachromatic leukodystrophy
p.Ser477fs Single submitter metachromatic leukodystrophy
p.Thr410fs Single submitter metachromatic leukodystrophy
p.Trp195Ter Single submitter metachromatic leukodystrophy
p.Trp320Ter Single submitter metachromatic leukodystrophy
p.Tyr118fs Single submitter metachromatic leukodystrophy
p.Tyr151fs Single submitter metachromatic leukodystrophy
p.Tyr431Ter Single submitter metachromatic leukodystrophy
p.Tyr65Ter Single submitter metachromatic leukodystrophy
p.Tyr90fs Single submitter metachromatic leukodystrophy
p.Tyr90Ter Single submitter metachromatic leukodystrophy
p.Val179fs Single submitter metachromatic leukodystrophy
c.225-1G>A No assertion criteria metachromatic leukodystrophy
c.684+30_955del No assertion criteria metachromatic leukodystrophy
c.964_1108-59del No assertion criteria metachromatic leukodystrophy
p.Arg313Pro No assertion criteria metachromatic leukodystrophy
p.Cys302Phe No assertion criteria metachromatic leukodystrophy, late infantile form
p.Gln217Ter No assertion criteria metachromatic leukodystrophy
p.Gln488Ter No assertion criteria ARYLSULFATASE A PSEUDODEFICIENCY
p.Gly327Cys No assertion criteria ARYLSULFATASE A PSEUDODEFICIENCY
p.Leu137Pro No assertion criteria metachromatic leukodystrophy, adult form
p.Phe401del No assertion criteria metachromatic leukodystrophy
p.Pro157Arg No assertion criteria ARYLSULFATASE A PSEUDODEFICIENCY
p.Pro427Thr No assertion criteria metachromatic leukodystrophy, juvenile form
p.Thr48fs No assertion criteria metachromatic leukodystrophy

Pathogenic/Likely pathogenic 76

c.1107+1G>A Multiple submitters metachromatic leukodystrophy
c.1108-3C>G Multiple submitters metachromatic leukodystrophy
c.979_979+3del Multiple submitters metachromatic leukodystrophy
p.Arg145Gly Multiple submitters metachromatic leukodystrophy
p.Arg145Ter Multiple submitters metachromatic leukodystrophy
p.Arg21fs Multiple submitters metachromatic leukodystrophy
p.Arg246Cys Multiple submitters metachromatic leukodystrophy
p.Arg290_Met291del Multiple submitters lysosomal storage disease
p.Arg290His Multiple submitters Inborn genetic diseases
p.Arg313Gln Multiple submitters metachromatic leukodystrophy
p.Arg372Gln Multiple submitters metachromatic leukodystrophy
p.Arg392Gln Multiple submitters metachromatic leukodystrophy
p.Arg498fs Multiple submitters metachromatic leukodystrophy
p.Arg60Trp Multiple submitters metachromatic leukodystrophy
p.Arg82fs Multiple submitters metachromatic leukodystrophy
p.Arg82Gln Multiple submitters metachromatic leukodystrophy
p.Arg82Trp Multiple submitters metachromatic leukodystrophy
p.Asn284Ser Multiple submitters metachromatic leukodystrophy
p.Asp257Glu Multiple submitters metachromatic leukodystrophy
p.Asp31Glu Multiple submitters metachromatic leukodystrophy
p.Asp337Val Multiple submitters leukodystrophy
p.Asp37His Multiple submitters metachromatic leukodystrophy
p.Cys296Tyr Multiple submitters metachromatic leukodystrophy
p.Cys490Arg Multiple submitters metachromatic leukodystrophy
p.Cys491Gly Multiple submitters metachromatic leukodystrophy
p.Cys71fs Multiple submitters metachromatic leukodystrophy
p.Gln456Ter Multiple submitters metachromatic leukodystrophy
p.Gln467Ter Multiple submitters metachromatic leukodystrophy
p.Glu242Ter Multiple submitters metachromatic leukodystrophy
p.Glu309Ter Multiple submitters metachromatic leukodystrophy
p.Glu331Ter Multiple submitters metachromatic leukodystrophy
p.Glu384Lys Multiple submitters metachromatic leukodystrophy
p.Glu483Ter Multiple submitters metachromatic leukodystrophy
p.Gly101Asp Multiple submitters metachromatic leukodystrophy
p.Gly101fs Multiple submitters metachromatic leukodystrophy
p.Gly124Asp Multiple submitters metachromatic leukodystrophy
p.Gly247Arg Multiple submitters metachromatic leukodystrophy
p.Gly295Ser Multiple submitters neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
p.Gly303Arg Multiple submitters metachromatic leukodystrophy
p.Gly327Ser Multiple submitters Inborn genetic diseases
p.Gly39Asp Multiple submitters metachromatic leukodystrophy
p.Gly446fs Multiple submitters metachromatic leukodystrophy
p.Gly81fs Multiple submitters metachromatic leukodystrophy
p.Gly88Asp Multiple submitters metachromatic leukodystrophy
p.His140Asp Multiple submitters metachromatic leukodystrophy
p.His425Arg Multiple submitters metachromatic leukodystrophy
p.Ile181Ser Multiple submitters Inborn genetic diseases
p.Leu113Pro Multiple submitters metachromatic leukodystrophy
p.Leu196fs Multiple submitters metachromatic leukodystrophy
p.Leu300Ser Multiple submitters metachromatic leukodystrophy
p.Leu429fs Multiple submitters metachromatic leukodystrophy
p.Leu430Pro Multiple submitters metachromatic leukodystrophy
p.Leu70Pro Multiple submitters metachromatic leukodystrophy
p.Met254fs Multiple submitters metachromatic leukodystrophy
p.Phe143Leu Multiple submitters metachromatic leukodystrophy
p.Phe249fs Multiple submitters metachromatic leukodystrophy
p.Phe249Ser Multiple submitters metachromatic leukodystrophy
p.Pro138Arg Multiple submitters metachromatic leukodystrophy
p.Pro150Leu Multiple submitters metachromatic leukodystrophy
p.Pro182fs Multiple submitters metachromatic leukodystrophy
p.Pro194Arg Multiple submitters metachromatic leukodystrophy
p.Pro67fs Multiple submitters metachromatic leukodystrophy
p.Pro84Leu Multiple submitters metachromatic leukodystrophy
p.Ser421_Leu422insTer Multiple submitters metachromatic leukodystrophy
p.Ser98Phe Multiple submitters metachromatic leukodystrophy
p.Thr281Ile Multiple submitters metachromatic leukodystrophy
p.Thr288Pro Multiple submitters metachromatic leukodystrophy
p.Thr306Met Multiple submitters metachromatic leukodystrophy
p.Thr411Ile Multiple submitters metachromatic leukodystrophy
p.Thr62fs Multiple submitters metachromatic leukodystrophy
p.Trp320Cys Multiple submitters metachromatic leukodystrophy
p.Tyr203His Multiple submitters metachromatic leukodystrophy
p.Tyr225Cys Multiple submitters metachromatic leukodystrophy
p.Tyr381fs Multiple submitters metachromatic leukodystrophy
p.Tyr431Ser Multiple submitters metachromatic leukodystrophy
c.980-2A>C No assertion criteria metachromatic leukodystrophy

Likely pathogenic 142

c.225-1G>C Multiple submitters metachromatic leukodystrophy
c.225-2A>G Multiple submitters metachromatic leukodystrophy
c.466-2A>G Multiple submitters metachromatic leukodystrophy
p.Arg313Gly Multiple submitters metachromatic leukodystrophy
p.Arg86Gly Multiple submitters metachromatic leukodystrophy
p.Gln234Arg Multiple submitters metachromatic leukodystrophy
p.Glu255Asp Multiple submitters metachromatic leukodystrophy
p.Glu309Val Multiple submitters metachromatic leukodystrophy
p.Glu314Asp Multiple submitters metachromatic leukodystrophy
p.Glu426Lys Multiple submitters metachromatic leukodystrophy
p.Gly156Asp Multiple submitters metachromatic leukodystrophy
p.Gly298Cys Multiple submitters metachromatic leukodystrophy
p.Gly310Ser Multiple submitters metachromatic leukodystrophy
p.Leu83Pro Multiple submitters metachromatic leukodystrophy
p.Phe249Cys Multiple submitters metachromatic leukodystrophy
p.Phe377del Multiple submitters metachromatic leukodystrophy
p.Pro194His Multiple submitters metachromatic leukodystrophy
p.Ser46Pro Multiple submitters metachromatic leukodystrophy
p.Thr276Lys Multiple submitters metachromatic leukodystrophy
c.1108-10_1108-9del Single submitter metachromatic leukodystrophy
c.1108-1G>C Single submitter metachromatic leukodystrophy
c.1210+1G>T Single submitter metachromatic leukodystrophy
c.224+1G>A Single submitter metachromatic leukodystrophy
c.224+1G>T Single submitter metachromatic leukodystrophy
c.224+2T>A Single submitter metachromatic leukodystrophy
c.854+2T>C Single submitter metachromatic leukodystrophy
p.Ala207Asp Single submitter metachromatic leukodystrophy
p.Ala226Asp Single submitter metachromatic leukodystrophy
p.Ala346fs Single submitter metachromatic leukodystrophy
p.Ala424fs Single submitter metachromatic leukodystrophy
p.Arg290Gly Single submitter metachromatic leukodystrophy
p.Arg290Pro Single submitter metachromatic leukodystrophy
p.Arg301Leu Single submitter metachromatic leukodystrophy
p.Arg313fs Single submitter metachromatic leukodystrophy
p.Arg392Gly Single submitter metachromatic leukodystrophy
p.Arg86Leu Single submitter metachromatic leukodystrophy
p.Asp154Asn Single submitter metachromatic leukodystrophy
p.Asp154Tyr Single submitter metachromatic leukodystrophy
p.Asp257Asn Single submitter metachromatic leukodystrophy
p.Asp257Val Single submitter metachromatic leukodystrophy
p.Asp413Gly Single submitter metachromatic leukodystrophy
p.Cys490Trp Single submitter metachromatic leukodystrophy
p.Gln155Arg Single submitter metachromatic leukodystrophy
p.Gln192fs Single submitter metachromatic leukodystrophy
p.Gln215Ter Single submitter metachromatic leukodystrophy
p.Gln234Glu Single submitter metachromatic leukodystrophy
p.Gln462Ter Single submitter metachromatic leukodystrophy
p.Gln478Ter Single submitter metachromatic leukodystrophy
p.Glu133_Leu137delinsVal Single submitter metachromatic leukodystrophy
p.Glu133fs Single submitter metachromatic leukodystrophy
p.Glu255Ala Single submitter metachromatic leukodystrophy
p.Glu309Gly Single submitter metachromatic leukodystrophy
p.Glu331Gly Single submitter metachromatic leukodystrophy
p.Glu384Gln Single submitter metachromatic leukodystrophy
p.Gly101Cys Single submitter metachromatic leukodystrophy
p.Gly124Cys Single submitter metachromatic leukodystrophy
p.Gly129Glu Single submitter metachromatic leukodystrophy
p.Gly271_Leu272del Single submitter lysosomal storage disease
p.Gly303Val Single submitter metachromatic leukodystrophy
p.Gly310Cys Single submitter metachromatic leukodystrophy
p.Gly311Arg Single submitter metachromatic leukodystrophy
p.Gly311Cys Single submitter metachromatic leukodystrophy
p.Gly387Trp Single submitter metachromatic leukodystrophy
p.Gly387Val Single submitter metachromatic leukodystrophy
p.His399fs Single submitter metachromatic leukodystrophy
p.His399Gln Single submitter metachromatic leukodystrophy
p.Leu161Pro Single submitter metachromatic leukodystrophy
p.Leu210Arg Single submitter metachromatic leukodystrophy
p.Leu263fs Single submitter metachromatic leukodystrophy
p.Leu270Pro Single submitter metachromatic leukodystrophy
p.Leu300Trp Single submitter metachromatic leukodystrophy
p.Leu430Phe Single submitter metachromatic leukodystrophy
p.Leu54Val Single submitter metachromatic leukodystrophy
p.Lys304Asn Single submitter metachromatic leukodystrophy
p.Met122Thr Single submitter
p.Met204fs Single submitter metachromatic leukodystrophy
p.Met211Thr Single submitter
p.Phe146Leu Single submitter metachromatic leukodystrophy
p.Phe221Ser Single submitter metachromatic leukodystrophy
p.Phe400= Single submitter metachromatic leukodystrophy
p.Phe400Leu Single submitter
p.Phe400Ser Single submitter metachromatic leukodystrophy
p.Pro138Ala Single submitter metachromatic leukodystrophy
p.Pro150Ser Single submitter metachromatic leukodystrophy
p.Pro169fs Single submitter metachromatic leukodystrophy
p.Pro182Thr Single submitter metachromatic leukodystrophy
p.Pro233Leu Single submitter metachromatic leukodystrophy
p.Pro286Ser Single submitter metachromatic leukodystrophy
p.Pro379Gln Single submitter metachromatic leukodystrophy
p.Pro428Ala Single submitter metachromatic leukodystrophy
p.Pro428Ser Single submitter metachromatic leukodystrophy
p.Pro84Arg Single submitter metachromatic leukodystrophy
p.Ser227Phe Single submitter metachromatic leukodystrophy
p.Ser227Pro Single submitter metachromatic leukodystrophy
p.Ser244fs Single submitter metachromatic leukodystrophy
p.Ser408Arg Single submitter metachromatic leukodystrophy
p.Ser408Asn Single submitter metachromatic leukodystrophy
p.Ser408Gly Single submitter metachromatic leukodystrophy
p.Ser408Thr Single submitter metachromatic leukodystrophy
p.Ser45Arg Single submitter metachromatic leukodystrophy
p.Ser45Gly Single submitter metachromatic leukodystrophy
p.Ser98Leu Single submitter metachromatic leukodystrophy
p.Ser98Pro Single submitter metachromatic leukodystrophy
p.Thr276Ser Single submitter metachromatic leukodystrophy
p.Thr288Asn Single submitter metachromatic leukodystrophy
p.Thr306Ala Single submitter metachromatic leukodystrophy
p.Thr410Ile Single submitter metachromatic leukodystrophy
p.Trp320Gly Single submitter metachromatic leukodystrophy
p.Tyr203Asn Single submitter metachromatic leukodystrophy
p.Tyr396Ser Single submitter metachromatic leukodystrophy
p.Tyr41Cys Single submitter metachromatic leukodystrophy
p.Val112Asp Single submitter metachromatic leukodystrophy
p.Val388Phe Single submitter metachromatic leukodystrophy
c.465+2T>A No assertion criteria metachromatic leukodystrophy
c.934_*1806del No assertion criteria metachromatic leukodystrophy
p.Ala226fs No assertion criteria metachromatic leukodystrophy
p.Ala333Asp No assertion criteria metachromatic leukodystrophy
p.Ala77fs No assertion criteria metachromatic leukodystrophy
p.Arg293Leu No assertion criteria metachromatic leukodystrophy
p.Asn24Thr No assertion criteria metachromatic leukodystrophy
p.Asn440_Tyr441insTer No assertion criteria metachromatic leukodystrophy
p.Asp63fs No assertion criteria metachromatic leukodystrophy
p.Cys174Arg No assertion criteria metachromatic leukodystrophy
p.Gln155His No assertion criteria metachromatic leukodystrophy
p.Glu309fs No assertion criteria metachromatic leukodystrophy
p.Gly250Arg No assertion criteria metachromatic leukodystrophy
p.Gly250Trp No assertion criteria metachromatic leukodystrophy
p.Gly404Cys No assertion criteria metachromatic leukodystrophy
p.His127Tyr No assertion criteria metachromatic leukodystrophy
p.His43_Pro44insLeuGlyCysTyrGlyHis No assertion criteria metachromatic leukodystrophy
p.Leu196Gln No assertion criteria metachromatic leukodystrophy
p.Leu463fs No assertion criteria metachromatic leukodystrophy
p.Leu94Pro No assertion criteria metachromatic leukodystrophy
p.Lys465Glu No assertion criteria metachromatic leukodystrophy
p.Met1Thr No assertion criteria metachromatic leukodystrophy
p.Phe474Ser No assertion criteria metachromatic leukodystrophy
p.Pro132fs No assertion criteria metachromatic leukodystrophy
p.Pro166fs No assertion criteria metachromatic leukodystrophy
p.Pro428Arg No assertion criteria metachromatic leukodystrophy
p.Ser236Asn No assertion criteria metachromatic leukodystrophy
p.Ser408fs No assertion criteria metachromatic leukodystrophy
p.Ser69fs No assertion criteria metachromatic leukodystrophy

Conflicting classifications of pathogenicity 64

c.1210+13C>T Single submitter metachromatic leukodystrophy
c.1211-10C>T Single submitter metachromatic leukodystrophy
c.1211-15T>C Single submitter metachromatic leukodystrophy
c.1211-2A>G Single submitter metachromatic leukodystrophy
c.225-4G>A Single submitter Inborn genetic diseases
c.225-5C>T Single submitter metachromatic leukodystrophy
c.466-7G>C Single submitter metachromatic leukodystrophy
c.979+8C>T Single submitter metachromatic leukodystrophy
c.*15G>A Single submitter metachromatic leukodystrophy
p.Ala123= Single submitter metachromatic leukodystrophy
p.Ala214Thr Single submitter metachromatic leukodystrophy
p.Ala226Ser Single submitter metachromatic leukodystrophy
p.Ala226Val Single submitter metachromatic leukodystrophy
p.Ala316Thr Single submitter metachromatic leukodystrophy
p.Arg145Gln Single submitter metachromatic leukodystrophy
p.Arg202His Single submitter metachromatic leukodystrophy
p.Arg246Leu Single submitter metachromatic leukodystrophy
p.Arg290Leu Single submitter metachromatic leukodystrophy
p.Arg301Gly Single submitter metachromatic leukodystrophy
p.Arg301Pro Single submitter metachromatic leukodystrophy
p.Arg301Trp Single submitter Inborn genetic diseases
p.Arg386Cys Single submitter metachromatic leukodystrophy
p.Arg392Trp Single submitter metachromatic leukodystrophy
p.Arg498Leu Single submitter metachromatic leukodystrophy
p.Arg60Pro Single submitter metachromatic leukodystrophy
p.Arg99Pro Single submitter metachromatic leukodystrophy
p.Asn442Ser Single submitter metachromatic leukodystrophy
p.Asp154His Single submitter metachromatic leukodystrophy
p.Asp171Asn Single submitter metachromatic leukodystrophy
p.Asp283Tyr Single submitter metachromatic leukodystrophy
p.Gln155= Single submitter metachromatic leukodystrophy
p.Glu331Lys Single submitter Inborn genetic diseases
p.Glu483Lys Single submitter metachromatic leukodystrophy
p.Gly124_Lys125delinsThrLeuGly Single submitter metachromatic leukodystrophy
p.Gly124Ser Single submitter ARSA-related disorder
p.Gly131Glu Single submitter metachromatic leukodystrophy
p.Gly156Arg Single submitter metachromatic leukodystrophy
p.Gly198Arg Single submitter Inborn genetic diseases
p.Gly268Arg Single submitter Inborn genetic diseases
p.Gly295Asp Single submitter metachromatic leukodystrophy
p.Gly298Ser Single submitter metachromatic leukodystrophy
p.Gly310= Single submitter metachromatic leukodystrophy
p.Gly311Ser Single submitter PSEUDOARYLSULFATASE A DEFICIENCY
p.Gly92= Single submitter metachromatic leukodystrophy
p.His399Arg Single submitter metachromatic leukodystrophy
p.Leu13Gln Single submitter metachromatic leukodystrophy
p.Leu336Pro Single submitter metachromatic leukodystrophy
p.Met211Ile Single submitter metachromatic leukodystrophy
p.Pro138His Single submitter metachromatic leukodystrophy
p.Pro157Leu Single submitter metachromatic leukodystrophy
p.Pro193Arg Single submitter metachromatic leukodystrophy
p.Pro193Ser Single submitter metachromatic leukodystrophy
p.Pro193Thr Single submitter metachromatic leukodystrophy
p.Pro194Ser Single submitter metachromatic leukodystrophy
p.Pro220Leu Single submitter metachromatic leukodystrophy
p.Pro427Ser Single submitter metachromatic leukodystrophy
p.Ser252Tyr Single submitter metachromatic leukodystrophy
p.Ser297= Single submitter metachromatic leukodystrophy
p.Thr306= Single submitter metachromatic leukodystrophy
p.Thr393Gly Single submitter Inborn genetic diseases
p.Thr496Ile Single submitter metachromatic leukodystrophy
p.Val19Ala Single submitter Inborn genetic diseases
p.Val93= Single submitter metachromatic leukodystrophy
p.Gln141Ter No assertion criteria metachromatic leukodystrophy

Benign 40

c.1108-32C>T Multiple submitters metachromatic leukodystrophy
c.1108-60C>T Multiple submitters metachromatic leukodystrophy
c.1210+20C>G Multiple submitters metachromatic leukodystrophy
c.854+100G>A Multiple submitters
c.854+104C>T Multiple submitters
c.855-112A>G Multiple submitters
c.979+38A>G Multiple submitters
c.-345G>C Multiple submitters metachromatic leukodystrophy
c.*1351C>G Multiple submitters metachromatic leukodystrophy
c.*1369C>T Multiple submitters metachromatic leukodystrophy
c.*1746G>A Multiple submitters metachromatic leukodystrophy
c.*1769A>G Multiple submitters metachromatic leukodystrophy
p.Asp383= Multiple submitters metachromatic leukodystrophy
p.Gly81= Multiple submitters metachromatic leukodystrophy
p.His153= Multiple submitters metachromatic leukodystrophy
p.Thr393Ser Multiple submitters metachromatic leukodystrophy
p.Trp195Cys Multiple submitters metachromatic leukodystrophy
c.1108-44G>A Single submitter
c.1210+13del Single submitter metachromatic leukodystrophy
c.1211-8del Single submitter metachromatic leukodystrophy
c.224+12del Single submitter metachromatic leukodystrophy
c.854+121C>T Single submitter
c.854+156dup Single submitter
c.979+13G>T Single submitter
c.-714C>T Single submitter
c.*1076A>T Single submitter metachromatic leukodystrophy
c.*1522C>A Single submitter metachromatic leukodystrophy
c.*1570C>T Single submitter metachromatic leukodystrophy
c.*210A>G Single submitter
c.*340T>A Single submitter metachromatic leukodystrophy
c.*635G>A Single submitter metachromatic leukodystrophy
c.*682G>C Single submitter metachromatic leukodystrophy
c.*741C>T Single submitter metachromatic leukodystrophy
c.*777C>G Single submitter metachromatic leukodystrophy
c.*855G>A Single submitter metachromatic leukodystrophy
c.*919A>G Single submitter metachromatic leukodystrophy
c.*992G>A Single submitter metachromatic leukodystrophy
p.Arg313= Single submitter metachromatic leukodystrophy
p.Glu200Lys Single submitter metachromatic leukodystrophy
p.Gly449Arg Single submitter metachromatic leukodystrophy

Benign/Likely benign 8

c.1108-77C>A Multiple submitters metachromatic leukodystrophy
c.1210+13C>A Multiple submitters metachromatic leukodystrophy
c.684+33C>T Multiple submitters metachromatic leukodystrophy
p.Arg498His Multiple submitters metachromatic leukodystrophy
p.Asn186= Multiple submitters metachromatic leukodystrophy
p.His208= Multiple submitters metachromatic leukodystrophy
p.Ile324= Multiple submitters metachromatic leukodystrophy
p.Ser334= Multiple submitters metachromatic leukodystrophy

Likely benign 375

Showing the top 300 by review status; the full set is in the sitemap.

c.1107+125C>T Multiple submitters metachromatic leukodystrophy
c.1210+48C>T Multiple submitters
c.466-18G>A Multiple submitters metachromatic leukodystrophy
c.-136C>G Multiple submitters metachromatic leukodystrophy
c.*2374C>A Multiple submitters metachromatic leukodystrophy
p.Glu453= Multiple submitters metachromatic leukodystrophy
p.Gly294= Multiple submitters metachromatic leukodystrophy
p.Gly4= Multiple submitters metachromatic leukodystrophy
p.Pro165= Multiple submitters metachromatic leukodystrophy
p.Pro379= Multiple submitters Inborn genetic diseases
p.Tyr308= Multiple submitters metachromatic leukodystrophy
p.Val328Met Multiple submitters metachromatic leukodystrophy
c.1107+10del Single submitter metachromatic leukodystrophy
c.1107+10G>A Single submitter metachromatic leukodystrophy
c.1107+10G>C Single submitter metachromatic leukodystrophy
c.1107+12G>A Single submitter metachromatic leukodystrophy
c.1107+14C>G Single submitter metachromatic leukodystrophy
c.1107+15C>T Single submitter metachromatic leukodystrophy
c.1107+16C>G Single submitter metachromatic leukodystrophy
c.1107+16C>T Single submitter metachromatic leukodystrophy
c.1107+17C>G Single submitter metachromatic leukodystrophy
c.1107+18del Single submitter metachromatic leukodystrophy
c.1107+19G>A Single submitter metachromatic leukodystrophy
c.1107+20A>G Single submitter metachromatic leukodystrophy
c.1107+8C>G Single submitter metachromatic leukodystrophy
c.1107+8C>T Single submitter metachromatic leukodystrophy
c.1107+9G>A Single submitter metachromatic leukodystrophy
c.1108-10C>G Single submitter metachromatic leukodystrophy
c.1108-16_1108-15del Single submitter metachromatic leukodystrophy
c.1108-16C>T Single submitter metachromatic leukodystrophy
c.1108-8G>A Single submitter metachromatic leukodystrophy
c.1210+14G>A Single submitter metachromatic leukodystrophy
c.1210+14G>C Single submitter metachromatic leukodystrophy
c.1210+18A>C Single submitter metachromatic leukodystrophy
c.1210+18A>G Single submitter metachromatic leukodystrophy
c.1210+18A>T Single submitter metachromatic leukodystrophy
c.1210+7C>T Single submitter metachromatic leukodystrophy
c.1210+8C>T Single submitter metachromatic leukodystrophy
c.1211-12C>G Single submitter metachromatic leukodystrophy
c.1211-15T>G Single submitter metachromatic leukodystrophy
c.1211-4C>T Single submitter metachromatic leukodystrophy
c.1211-5C>T Single submitter metachromatic leukodystrophy
c.1211-7del Single submitter metachromatic leukodystrophy
c.1211-8C>T Single submitter metachromatic leukodystrophy
c.1211-9C>T Single submitter metachromatic leukodystrophy
c.224+10G>A Single submitter metachromatic leukodystrophy
c.224+10G>C Single submitter metachromatic leukodystrophy
c.224+12G>A Single submitter metachromatic leukodystrophy
c.224+13C>T Single submitter metachromatic leukodystrophy
c.224+14C>T Single submitter metachromatic leukodystrophy
c.224+15G>A Single submitter metachromatic leukodystrophy
c.224+16C>A Single submitter metachromatic leukodystrophy
c.224+17G>A Single submitter metachromatic leukodystrophy
c.224+19C>T Single submitter metachromatic leukodystrophy
c.224+20T>C Single submitter metachromatic leukodystrophy
c.224+8G>A Single submitter metachromatic leukodystrophy
c.224+9G>A Single submitter metachromatic leukodystrophy
c.224+9G>C Single submitter metachromatic leukodystrophy
c.225-12C>T Single submitter metachromatic leukodystrophy
c.225-13A>G Single submitter metachromatic leukodystrophy
c.225-15_225-14del Single submitter metachromatic leukodystrophy
c.225-17T>C Single submitter metachromatic leukodystrophy
c.225-4G>T Single submitter metachromatic leukodystrophy
c.225-9G>A Single submitter metachromatic leukodystrophy
c.225-9G>C Single submitter metachromatic leukodystrophy
c.465+10A>C Single submitter metachromatic leukodystrophy
c.465+12C>T Single submitter metachromatic leukodystrophy
c.465+13C>A Single submitter metachromatic leukodystrophy
c.465+13C>T Single submitter metachromatic leukodystrophy
c.465+14G>A Single submitter metachromatic leukodystrophy
c.465+15G>A Single submitter metachromatic leukodystrophy
c.465+16G>A Single submitter metachromatic leukodystrophy
c.465+16G>T Single submitter metachromatic leukodystrophy
c.465+17_465+18insT Single submitter metachromatic leukodystrophy
c.465+17C>T Single submitter metachromatic leukodystrophy
c.465+19C>T Single submitter metachromatic leukodystrophy
c.465+20del Single submitter metachromatic leukodystrophy
c.465+7A>C Single submitter metachromatic leukodystrophy
c.465+8C>A Single submitter metachromatic leukodystrophy
c.465+8C>T Single submitter metachromatic leukodystrophy
c.465+9C>T Single submitter metachromatic leukodystrophy
c.466-11G>C Single submitter metachromatic leukodystrophy
c.466-13C>T Single submitter metachromatic leukodystrophy
c.466-19C>A Single submitter metachromatic leukodystrophy
c.466-19C>T Single submitter metachromatic leukodystrophy
c.466-5C>T Single submitter metachromatic leukodystrophy
c.466-7G>A Single submitter metachromatic leukodystrophy
c.466-8C>G Single submitter metachromatic leukodystrophy
c.466-8C>T Single submitter metachromatic leukodystrophy
c.684+10C>T Single submitter metachromatic leukodystrophy
c.684+13G>A Single submitter metachromatic leukodystrophy
c.684+14G>A Single submitter metachromatic leukodystrophy
c.684+15C>T Single submitter metachromatic leukodystrophy
c.684+16C>A Single submitter metachromatic leukodystrophy
c.684+17dup Single submitter metachromatic leukodystrophy
c.684+18A>G Single submitter metachromatic leukodystrophy
c.684+20C>T Single submitter metachromatic leukodystrophy
c.684+9T>A Single submitter metachromatic leukodystrophy
c.685-11T>C Single submitter metachromatic leukodystrophy
c.685-12C>G Single submitter metachromatic leukodystrophy
c.685-14G>C Single submitter metachromatic leukodystrophy
c.685-18T>C Single submitter metachromatic leukodystrophy
c.685-18T>G Single submitter metachromatic leukodystrophy
c.685-4C>T Single submitter metachromatic leukodystrophy
c.685-5C>G Single submitter metachromatic leukodystrophy
c.685-5C>T Single submitter metachromatic leukodystrophy
c.685-6C>T Single submitter metachromatic leukodystrophy
c.685-9del Single submitter metachromatic leukodystrophy
c.854+13_854+65del Single submitter metachromatic leukodystrophy
c.854+14G>A Single submitter metachromatic leukodystrophy
c.854+17G>C Single submitter metachromatic leukodystrophy
c.854+18C>T Single submitter metachromatic leukodystrophy
c.854+19T>G Single submitter metachromatic leukodystrophy
c.854+9G>A Single submitter metachromatic leukodystrophy
c.855-12C>A Single submitter metachromatic leukodystrophy
c.855-12C>T Single submitter metachromatic leukodystrophy
c.855-16G>A Single submitter metachromatic leukodystrophy
c.855-17C>A Single submitter metachromatic leukodystrophy
c.855-17C>T Single submitter metachromatic leukodystrophy
c.855-18G>A Single submitter metachromatic leukodystrophy
c.855-19A>G Single submitter metachromatic leukodystrophy
c.855-20dup Single submitter metachromatic leukodystrophy
c.855-20G>A Single submitter metachromatic leukodystrophy
c.855-4C>T Single submitter metachromatic leukodystrophy
c.855-5C>T Single submitter metachromatic leukodystrophy
c.855-7G>A Single submitter metachromatic leukodystrophy
c.979+10C>T Single submitter metachromatic leukodystrophy
c.979+13G>C Single submitter metachromatic leukodystrophy
c.979+18C>G Single submitter metachromatic leukodystrophy
c.979+18C>T Single submitter metachromatic leukodystrophy
c.979+20C>A Single submitter metachromatic leukodystrophy
c.979+20C>T Single submitter metachromatic leukodystrophy
c.979+9G>A Single submitter metachromatic leukodystrophy
c.980-10C>T Single submitter metachromatic leukodystrophy
c.980-13C>T Single submitter metachromatic leukodystrophy
c.980-15G>A Single submitter metachromatic leukodystrophy
c.980-16A>G Single submitter metachromatic leukodystrophy
c.980-17C>T Single submitter metachromatic leukodystrophy
c.980-20G>A Single submitter metachromatic leukodystrophy
c.980-5C>A Single submitter metachromatic leukodystrophy
c.980-7C>T Single submitter metachromatic leukodystrophy
c.980-8G>A Single submitter metachromatic leukodystrophy
c.*503A>G Single submitter metachromatic leukodystrophy
p.Ala110= Single submitter metachromatic leukodystrophy
p.Ala115= Single submitter metachromatic leukodystrophy
p.Ala12= Single submitter metachromatic leukodystrophy
p.Ala14= Single submitter metachromatic leukodystrophy
p.Ala14Thr Single submitter metachromatic leukodystrophy
p.Ala167= Single submitter metachromatic leukodystrophy
p.Ala18= Single submitter metachromatic leukodystrophy
p.Ala185= Single submitter metachromatic leukodystrophy
p.Ala191= Single submitter metachromatic leukodystrophy
p.Ala20= Single submitter metachromatic leukodystrophy
p.Ala201= Single submitter metachromatic leukodystrophy
p.Ala207= Single submitter metachromatic leukodystrophy
p.Ala212= Single submitter metachromatic leukodystrophy
p.Ala214= Single submitter metachromatic leukodystrophy
p.Ala226= Single submitter metachromatic leukodystrophy
p.Ala241= Single submitter metachromatic leukodystrophy
p.Ala30= Single submitter metachromatic leukodystrophy
p.Ala333= Single submitter metachromatic leukodystrophy
p.Ala344= Single submitter metachromatic leukodystrophy
p.Ala348= Single submitter metachromatic leukodystrophy
p.Ala406= Single submitter metachromatic leukodystrophy
p.Ala415= Single submitter metachromatic leukodystrophy
p.Ala418= Single submitter metachromatic leukodystrophy
p.Ala448= Single submitter metachromatic leukodystrophy
p.Ala457= Single submitter metachromatic leukodystrophy
p.Ala466= Single submitter metachromatic leukodystrophy
p.Ala470= Single submitter metachromatic leukodystrophy
p.Ala470Thr Single submitter metachromatic leukodystrophy
p.Ala471= Single submitter metachromatic leukodystrophy
p.Ala486= Single submitter metachromatic leukodystrophy
p.Ala500= Single submitter metachromatic leukodystrophy
p.Ala509= Single submitter metachromatic leukodystrophy
p.Ala55= Single submitter metachromatic leukodystrophy
p.Ala56= Single submitter metachromatic leukodystrophy
p.Ala76= Single submitter metachromatic leukodystrophy
p.Ala77= Single submitter metachromatic leukodystrophy
p.Arg219= Single submitter metachromatic leukodystrophy
p.Arg243= Single submitter metachromatic leukodystrophy
p.Arg246= Single submitter metachromatic leukodystrophy
p.Arg290= Single submitter metachromatic leukodystrophy
p.Arg386= Single submitter metachromatic leukodystrophy
p.Arg392= Single submitter metachromatic leukodystrophy
p.Arg481= Single submitter metachromatic leukodystrophy
p.Arg60= Single submitter metachromatic leukodystrophy
p.Arg7= Single submitter metachromatic leukodystrophy
p.Arg86= Single submitter metachromatic leukodystrophy
p.Arg99= Single submitter metachromatic leukodystrophy
p.Asn352= Single submitter metachromatic leukodystrophy
p.Asp171= Single submitter metachromatic leukodystrophy
p.Asp213= Single submitter metachromatic leukodystrophy
p.Asp283= Single submitter metachromatic leukodystrophy
p.Asp337= Single submitter metachromatic leukodystrophy
p.Asp356= Single submitter metachromatic leukodystrophy
p.Asp359= Single submitter metachromatic leukodystrophy
p.Asp409= Single submitter metachromatic leukodystrophy
p.Asp469= Single submitter metachromatic leukodystrophy
p.Asp52= Single submitter metachromatic leukodystrophy
p.Asp63= Single submitter metachromatic leukodystrophy
p.Cys163= Single submitter metachromatic leukodystrophy
p.Cys170= Single submitter metachromatic leukodystrophy
p.Cys502= Single submitter metachromatic leukodystrophy
p.Cys504= Single submitter metachromatic leukodystrophy
p.Gln159= Single submitter metachromatic leukodystrophy
p.Gln215= Single submitter metachromatic leukodystrophy
p.Gln478= Single submitter metachromatic leukodystrophy
p.Gln488= Single submitter metachromatic leukodystrophy
p.Gln53= Single submitter metachromatic leukodystrophy
p.Glu106= Single submitter metachromatic leukodystrophy
p.Glu190= Single submitter metachromatic leukodystrophy
p.Glu287= Single submitter metachromatic leukodystrophy
p.Glu309= Single submitter metachromatic leukodystrophy
p.Glu314= Single submitter metachromatic leukodystrophy
p.Glu426= Single submitter metachromatic leukodystrophy
p.Glu439= Single submitter metachromatic leukodystrophy
p.Gly100= Single submitter metachromatic leukodystrophy
p.Gly101= Single submitter metachromatic leukodystrophy
p.Gly121= Single submitter metachromatic leukodystrophy
p.Gly129= Single submitter metachromatic leukodystrophy
p.Gly131= Single submitter metachromatic leukodystrophy
p.Gly16= Single submitter metachromatic leukodystrophy
p.Gly177= Single submitter metachromatic leukodystrophy
p.Gly177Asp Single submitter metachromatic leukodystrophy
p.Gly245= Single submitter metachromatic leukodystrophy
p.Gly247= Single submitter metachromatic leukodystrophy
p.Gly250= Single submitter metachromatic leukodystrophy
p.Gly268= Single submitter metachromatic leukodystrophy
p.Gly271= Single submitter metachromatic leukodystrophy
p.Gly303= Single submitter metachromatic leukodystrophy
p.Gly327= Single submitter metachromatic leukodystrophy
p.Gly34= Single submitter metachromatic leukodystrophy
p.Gly347= Single submitter metachromatic leukodystrophy
p.Gly357= Single submitter metachromatic leukodystrophy
p.Gly394= Single submitter metachromatic leukodystrophy
p.Gly42= Single submitter metachromatic leukodystrophy
p.Gly445= Single submitter metachromatic leukodystrophy
p.Gly449= Single submitter metachromatic leukodystrophy
p.Gly482= Single submitter metachromatic leukodystrophy
p.Gly88= Single submitter metachromatic leukodystrophy
p.His229= Single submitter metachromatic leukodystrophy
p.His231= Single submitter metachromatic leukodystrophy
p.His330= Single submitter metachromatic leukodystrophy
p.His399= Single submitter metachromatic leukodystrophy
p.His417= Single submitter metachromatic leukodystrophy
p.His503Tyr Single submitter metachromatic leukodystrophy
p.Ile181= Single submitter metachromatic leukodystrophy
p.Ile279= Single submitter metachromatic leukodystrophy
p.Ile489= Single submitter metachromatic leukodystrophy
p.Leu10= Single submitter metachromatic leukodystrophy
p.Leu102= Single submitter metachromatic leukodystrophy
p.Leu104= Single submitter metachromatic leukodystrophy
p.Leu11= Single submitter metachromatic leukodystrophy
p.Leu113= Single submitter metachromatic leukodystrophy
p.Leu13= Single submitter metachromatic leukodystrophy
p.Leu137= Single submitter metachromatic leukodystrophy
p.Leu17= Single submitter metachromatic leukodystrophy
p.Leu184= Single submitter metachromatic leukodystrophy
p.Leu187= Single submitter metachromatic leukodystrophy
p.Leu196= Single submitter metachromatic leukodystrophy
p.Leu199= Single submitter metachromatic leukodystrophy
p.Leu253= Single submitter metachromatic leukodystrophy
p.Leu256= Single submitter metachromatic leukodystrophy
p.Leu263= Single submitter metachromatic leukodystrophy
p.Leu272= Single submitter metachromatic leukodystrophy
p.Leu273= Single submitter metachromatic leukodystrophy
p.Leu277= Single submitter metachromatic leukodystrophy
p.Leu300= Single submitter metachromatic leukodystrophy
p.Leu317= Single submitter metachromatic leukodystrophy
p.Leu33= Single submitter metachromatic leukodystrophy
p.Leu336= Single submitter metachromatic leukodystrophy
p.Leu339= Single submitter metachromatic leukodystrophy
p.Leu342= Single submitter metachromatic leukodystrophy
p.Leu345= Single submitter metachromatic leukodystrophy
p.Leu350= Single submitter metachromatic leukodystrophy
p.Leu363= Single submitter metachromatic leukodystrophy
p.Leu365= Single submitter metachromatic leukodystrophy
p.Leu375= Single submitter metachromatic leukodystrophy
p.Leu429= Single submitter metachromatic leukodystrophy
p.Leu430= Single submitter metachromatic leukodystrophy
p.Leu433= Single submitter metachromatic leukodystrophy
p.Leu433Val Single submitter metachromatic leukodystrophy
p.Leu443= Single submitter metachromatic leukodystrophy
p.Leu444= Single submitter metachromatic leukodystrophy
p.Leu455= Single submitter metachromatic leukodystrophy
p.Leu458= Single submitter metachromatic leukodystrophy
p.Leu463= Single submitter metachromatic leukodystrophy
p.Leu487= Single submitter metachromatic leukodystrophy
p.Leu54= Single submitter metachromatic leukodystrophy
p.Leu59= Single submitter metachromatic leukodystrophy
p.Leu70= Single submitter metachromatic leukodystrophy
p.Leu78= Single submitter metachromatic leukodystrophy
p.Leu79= Single submitter metachromatic leukodystrophy
p.Leu9= Single submitter metachromatic leukodystrophy
p.Lys304= Single submitter metachromatic leukodystrophy
p.Lys435= Single submitter metachromatic leukodystrophy
p.Phe143= Single submitter metachromatic leukodystrophy
p.Phe164= Single submitter metachromatic leukodystrophy
p.Phe206= Single submitter metachromatic leukodystrophy

Uncertain significance 369

Showing the top 300 by review status; the full set is in the sitemap.

c.1108-12C>G Multiple submitters metachromatic leukodystrophy
c.1211-3C>T Multiple submitters metachromatic leukodystrophy
c.466-3C>G Multiple submitters metachromatic leukodystrophy
c.854+82G>A Multiple submitters metachromatic leukodystrophy
c.-224C>G Multiple submitters metachromatic leukodystrophy
c.-330C>T Multiple submitters metachromatic leukodystrophy
c.*1206G>T Multiple submitters metachromatic leukodystrophy
c.*1238T>G Multiple submitters metachromatic leukodystrophy
c.*2037C>T Multiple submitters metachromatic leukodystrophy
p.Ala110Val Multiple submitters metachromatic leukodystrophy
p.Ala316Asp Multiple submitters autosomal recessive sideroblastic anemia
p.Ala5Val Multiple submitters metachromatic leukodystrophy
p.Ala77Ser Multiple submitters metachromatic leukodystrophy
p.Arg202Cys Multiple submitters metachromatic leukodystrophy
p.Arg216Cys Multiple submitters Inborn genetic diseases
p.Arg219His Multiple submitters metachromatic leukodystrophy
p.Arg243His Multiple submitters metachromatic leukodystrophy
p.Arg293Gln Multiple submitters metachromatic leukodystrophy
p.Arg301Gln Multiple submitters metachromatic leukodystrophy
p.Arg386Pro Multiple submitters metachromatic leukodystrophy
p.Arg481Gln Multiple submitters metachromatic leukodystrophy
p.Arg498Cys Multiple submitters Inborn genetic diseases
p.Arg99Gln Multiple submitters metachromatic leukodystrophy
p.Asp213Asn Multiple submitters metachromatic leukodystrophy
p.Gln373Pro Multiple submitters Inborn genetic diseases
p.Gln478His Multiple submitters metachromatic leukodystrophy
p.Glu274Lys Multiple submitters Inborn genetic diseases
p.Glu275Asp Multiple submitters Inborn genetic diseases
p.Glu275Lys Multiple submitters Inborn genetic diseases
p.Gly117Asp Multiple submitters metachromatic leukodystrophy
p.Gly172Ser Multiple submitters metachromatic leukodystrophy
p.Gly445Val Multiple submitters Inborn genetic diseases
p.Gly482Ser Multiple submitters metachromatic leukodystrophy
p.His140Leu Multiple submitters metachromatic leukodystrophy
p.His228= Multiple submitters metachromatic leukodystrophy
p.His508Arg Multiple submitters metachromatic leukodystrophy
p.His508Tyr Multiple submitters metachromatic leukodystrophy
p.Ile25Val Multiple submitters metachromatic leukodystrophy
p.Leu10Val Multiple submitters metachromatic leukodystrophy
p.Leu119Val Multiple submitters Inborn genetic diseases
p.Leu210His Multiple submitters metachromatic leukodystrophy
p.Leu355Val Multiple submitters metachromatic leukodystrophy
p.Leu51Val Multiple submitters metachromatic leukodystrophy
p.Leu9Phe Multiple submitters metachromatic leukodystrophy
p.Met204Val Multiple submitters metachromatic leukodystrophy
p.Phe164Leu Multiple submitters Inborn genetic diseases
p.Pro44Leu Multiple submitters metachromatic leukodystrophy
p.Pro67Leu Multiple submitters metachromatic leukodystrophy
p.Ser152Cys Multiple submitters metachromatic leukodystrophy
p.Ser152Thr Multiple submitters metachromatic leukodystrophy
p.Ser227Cys Multiple submitters Inborn genetic diseases
p.Ser420Arg Multiple submitters metachromatic leukodystrophy
p.Thr329Ser Multiple submitters metachromatic leukodystrophy
p.Thr72Ile Multiple submitters metachromatic leukodystrophy
p.Tyr35Cys Multiple submitters metachromatic leukodystrophy
p.Val109Met Multiple submitters Inborn genetic diseases
p.Val130Met Multiple submitters Inborn genetic diseases
p.Val189Met Multiple submitters Inborn genetic diseases
p.Val66Met Multiple submitters metachromatic leukodystrophy
c.1211-5C>G Single submitter metachromatic leukodystrophy
c.225-15T>C Single submitter metachromatic leukodystrophy
c.225-3C>G Single submitter metachromatic leukodystrophy
c.225-5C>G Single submitter
c.465+3A>G Single submitter metachromatic leukodystrophy
c.465+5G>A Single submitter metachromatic leukodystrophy
c.685-3del Single submitter
c.685-7C>A Single submitter
c.854+3A>G Single submitter
c.854+5G>T Single submitter
c.855-3C>T Single submitter metachromatic leukodystrophy
c.980-21_980-20delinsCT Single submitter metachromatic leukodystrophy
c.-131G>A Single submitter metachromatic leukodystrophy
c.-142G>A Single submitter metachromatic leukodystrophy
c.-159C>T Single submitter metachromatic leukodystrophy
c.-16C>G Single submitter metachromatic leukodystrophy
c.-20G>C Single submitter metachromatic leukodystrophy
c.-223G>T Single submitter metachromatic leukodystrophy
c.-362G>C Single submitter metachromatic leukodystrophy
c.-88G>A Single submitter metachromatic leukodystrophy
c.*1012C>T Single submitter metachromatic leukodystrophy
c.*103C>T Single submitter metachromatic leukodystrophy
c.*1049T>A Single submitter metachromatic leukodystrophy
c.*1073G>T Single submitter metachromatic leukodystrophy
c.*10G>A Single submitter metachromatic leukodystrophy
c.*1157G>T Single submitter metachromatic leukodystrophy
c.*1171A>G Single submitter metachromatic leukodystrophy
c.*1207T>G Single submitter metachromatic leukodystrophy
c.*1212T>G Single submitter metachromatic leukodystrophy
c.*1213T>G Single submitter metachromatic leukodystrophy
c.*125C>G Single submitter metachromatic leukodystrophy
c.*1267C>T Single submitter metachromatic leukodystrophy
c.*127A>T Single submitter metachromatic leukodystrophy
c.*130C>A Single submitter metachromatic leukodystrophy
c.*1372G>A Single submitter metachromatic leukodystrophy
c.*1372G>T Single submitter metachromatic leukodystrophy
c.*1475C>G Single submitter metachromatic leukodystrophy
c.*1476G>A Single submitter metachromatic leukodystrophy
c.*1477C>T Single submitter metachromatic leukodystrophy
c.*1576A>C Single submitter metachromatic leukodystrophy
c.*1617G>A Single submitter metachromatic leukodystrophy
c.*1627G>C Single submitter metachromatic leukodystrophy
c.*1629A>C Single submitter metachromatic leukodystrophy
c.*165G>A Single submitter metachromatic leukodystrophy
c.*1712C>T Single submitter metachromatic leukodystrophy
c.*1714G>A Single submitter metachromatic leukodystrophy
c.*1825C>T Single submitter metachromatic leukodystrophy
c.*191C>G Single submitter metachromatic leukodystrophy
c.*1969C>A Single submitter metachromatic leukodystrophy
c.*1987G>A Single submitter metachromatic leukodystrophy
c.*2023G>C Single submitter metachromatic leukodystrophy
c.*2065C>T Single submitter metachromatic leukodystrophy
c.*2134C>A Single submitter metachromatic leukodystrophy
c.*2205A>T Single submitter metachromatic leukodystrophy
c.*2259G>A Single submitter metachromatic leukodystrophy
c.*2283A>G Single submitter metachromatic leukodystrophy
c.*2301T>C Single submitter metachromatic leukodystrophy
c.*2316C>T Single submitter metachromatic leukodystrophy
c.*2368A>T Single submitter metachromatic leukodystrophy
c.*293C>T Single submitter metachromatic leukodystrophy
c.*332C>T Single submitter metachromatic leukodystrophy
c.*342A>G Single submitter metachromatic leukodystrophy
c.*380G>A Single submitter metachromatic leukodystrophy
c.*389A>G Single submitter metachromatic leukodystrophy
c.*413T>G Single submitter metachromatic leukodystrophy
c.*466C>T Single submitter metachromatic leukodystrophy
c.*479C>G Single submitter metachromatic leukodystrophy
c.*527A>G Single submitter metachromatic leukodystrophy
c.*624G>T Single submitter metachromatic leukodystrophy
c.*625G>A Single submitter metachromatic leukodystrophy
c.*643T>C Single submitter metachromatic leukodystrophy
c.*729C>T Single submitter metachromatic leukodystrophy
c.*73G>A Single submitter metachromatic leukodystrophy
c.*794C>T Single submitter metachromatic leukodystrophy
c.*874T>C Single submitter metachromatic leukodystrophy
p.Ala115Thr Single submitter metachromatic leukodystrophy
p.Ala167Ser Single submitter metachromatic leukodystrophy
p.Ala191Thr Single submitter metachromatic leukodystrophy
p.Ala191Val Single submitter Inborn genetic diseases
p.Ala201Ser Single submitter metachromatic leukodystrophy
p.Ala201Val Single submitter
p.Ala207Thr Single submitter metachromatic leukodystrophy
p.Ala207Val Single submitter metachromatic leukodystrophy
p.Ala212Gly Single submitter metachromatic leukodystrophy
p.Ala214Asp Single submitter metachromatic leukodystrophy
p.Ala214Ser Single submitter
p.Ala30Val Single submitter Inborn genetic diseases
p.Ala318Val Single submitter metachromatic leukodystrophy
p.Ala325Thr Single submitter metachromatic leukodystrophy
p.Ala343Val Single submitter Inborn genetic diseases
p.Ala344Pro Single submitter metachromatic leukodystrophy
p.Ala390Thr Single submitter
p.Ala418Thr Single submitter metachromatic leukodystrophy
p.Ala418Val Single submitter metachromatic leukodystrophy
p.Ala450Thr Single submitter
p.Ala457Val Single submitter metachromatic leukodystrophy
p.Ala470_Thr473del Single submitter metachromatic leukodystrophy
p.Ala480Val Single submitter metachromatic leukodystrophy
p.Ala486Thr Single submitter metachromatic leukodystrophy
p.Ala5Thr Single submitter metachromatic leukodystrophy
p.Arg116Gln Single submitter metachromatic leukodystrophy
p.Arg145Pro Single submitter Inborn genetic diseases
p.Arg216His Single submitter metachromatic leukodystrophy
p.Arg216Leu Single submitter metachromatic leukodystrophy
p.Arg243Cys Single submitter metachromatic leukodystrophy
p.Arg243Ser Single submitter Inborn genetic diseases
p.Arg313Leu Single submitter metachromatic leukodystrophy
p.Arg372Pro Single submitter
p.Arg386His Single submitter metachromatic leukodystrophy
p.Arg481Leu Single submitter
p.Arg481Pro Single submitter Inborn genetic diseases
p.Arg481Trp Single submitter metachromatic leukodystrophy
p.Arg498Ser Single submitter metachromatic leukodystrophy
p.Arg7Leu Single submitter Inborn genetic diseases
p.Arg82Pro Single submitter
p.Arg99Leu Single submitter metachromatic leukodystrophy
p.Arg99Trp Single submitter metachromatic leukodystrophy
p.Asn186Lys Single submitter metachromatic leukodystrophy
p.Asp154Ala Single submitter
p.Asp171Tyr Single submitter metachromatic leukodystrophy
p.Asp37Ala Single submitter
p.Asp37Asn Single submitter
p.Asp383Glu Single submitter metachromatic leukodystrophy
p.Asp413Tyr Single submitter
p.Asp432Asn Single submitter metachromatic leukodystrophy
p.Asp436Gly Single submitter metachromatic leukodystrophy
p.Asp484His Single submitter metachromatic leukodystrophy
p.Asp506Tyr Single submitter metachromatic leukodystrophy
p.Asp52Asn Single submitter metachromatic leukodystrophy
p.Asp52Glu Single submitter Inborn genetic diseases
p.Cys158Ser Single submitter metachromatic leukodystrophy
p.Cys163Tyr Single submitter metachromatic leukodystrophy
p.Cys170Tyr Single submitter Inborn genetic diseases
p.Cys491Arg Single submitter
p.Cys491Tyr Single submitter metachromatic leukodystrophy
p.Cys495Gly Single submitter Inborn genetic diseases
p.Cys71Gly Single submitter metachromatic leukodystrophy
p.Gln192Leu Single submitter
p.Gln462Arg Single submitter metachromatic leukodystrophy
p.Gln467Pro Single submitter metachromatic leukodystrophy
p.Gln488Arg Single submitter metachromatic leukodystrophy
p.Glu111Lys Single submitter
p.Glu190Gln Single submitter metachromatic leukodystrophy
p.Glu242Gly Single submitter metachromatic leukodystrophy
p.Glu242Lys Single submitter metachromatic leukodystrophy
p.Glu275Gln Single submitter metachromatic leukodystrophy
p.Glu287Gln Single submitter Inborn genetic diseases
p.Glu426Gly Single submitter metachromatic leukodystrophy
p.Gly101Arg Single submitter
p.Gly117Arg Single submitter metachromatic leukodystrophy
p.Gly117Ser Single submitter metachromatic leukodystrophy
p.Gly121Glu Single submitter metachromatic leukodystrophy
p.Gly124Arg Single submitter
p.Gly134Arg Single submitter
p.Gly142Ser Single submitter metachromatic leukodystrophy
p.Gly172Arg Single submitter
p.Gly173Asp Single submitter metachromatic leukodystrophy
p.Gly261Arg Single submitter metachromatic leukodystrophy
p.Gly261Glu Single submitter metachromatic leukodystrophy
p.Gly271Glu Single submitter Inborn genetic diseases
p.Gly285Glu Single submitter metachromatic leukodystrophy
p.Gly298Arg Single submitter
p.Gly305Ala Single submitter Inborn genetic diseases
p.Gly305Arg Single submitter metachromatic leukodystrophy
p.Gly310Ala Single submitter
p.Gly311Asp Single submitter metachromatic leukodystrophy
p.Gly36Glu Single submitter metachromatic leukodystrophy
p.Gly394Glu Single submitter Inborn genetic diseases
p.Gly438Asp Single submitter metachromatic leukodystrophy
p.Gly475Ser Single submitter metachromatic leukodystrophy
p.Gly482Asp Single submitter metachromatic leukodystrophy
p.Gly494Ser Single submitter metachromatic leukodystrophy
p.Gly4Arg Single submitter metachromatic leukodystrophy
p.Gly4Glu Single submitter Inborn genetic diseases
p.Gly57Arg Single submitter metachromatic leukodystrophy
p.Gly58Val Single submitter metachromatic leukodystrophy
p.Gly81Ala Single submitter metachromatic leukodystrophy
p.His140Tyr Single submitter metachromatic leukodystrophy
p.His323Pro Single submitter Inborn genetic diseases
p.His323Tyr Single submitter metachromatic leukodystrophy
p.His330Arg Single submitter
p.His43Tyr Single submitter
p.Ile149Thr Single submitter metachromatic leukodystrophy
p.Ile267Thr Single submitter metachromatic leukodystrophy
p.Ile267Val Single submitter
p.Ile28Asn Single submitter metachromatic leukodystrophy
p.Ile324Thr Single submitter metachromatic leukodystrophy
p.Ile324Val Single submitter metachromatic leukodystrophy
p.Leu102Met Single submitter metachromatic leukodystrophy
p.Leu253Val Single submitter
p.Leu263Pro Single submitter Inborn genetic diseases
p.Leu272Pro Single submitter Inborn genetic diseases
p.Leu273Pro Single submitter metachromatic leukodystrophy
p.Leu338Val Single submitter metachromatic leukodystrophy
p.Leu345Val Single submitter
p.Leu433Arg Single submitter metachromatic leukodystrophy
p.Leu455Met Single submitter metachromatic leukodystrophy
p.Leu464Phe Single submitter metachromatic leukodystrophy
p.Leu59Pro Single submitter metachromatic leukodystrophy
p.Leu78Phe Single submitter Inborn genetic diseases
p.Leu83Phe Single submitter metachromatic leukodystrophy
p.Leu9Ile Single submitter metachromatic leukodystrophy
p.Lys304Gln Single submitter
p.Lys369Asn Single submitter metachromatic leukodystrophy
p.Lys369Thr Single submitter metachromatic leukodystrophy
p.Lys397Glu Single submitter
p.Lys459Arg Single submitter metachromatic leukodystrophy
p.Met204Lys Single submitter metachromatic leukodystrophy
p.Met254Thr Single submitter metachromatic leukodystrophy
p.Met289Ile Single submitter metachromatic leukodystrophy
p.Met289Thr Single submitter metachromatic leukodystrophy
p.Met89Ile Single submitter Inborn genetic diseases
p.Phe146Tyr Single submitter
p.Phe221Ile Single submitter metachromatic leukodystrophy
p.Phe29Ser Single submitter metachromatic leukodystrophy
p.Phe400Val Single submitter
p.Phe401Leu Single submitter metachromatic leukodystrophy
p.Phe64Val Single submitter metachromatic leukodystrophy
p.Pro103Arg Single submitter metachromatic leukodystrophy
p.Pro132Ser Single submitter metachromatic leukodystrophy
p.Pro166= Single submitter metachromatic leukodystrophy
p.Pro169Arg Single submitter metachromatic leukodystrophy
p.Pro182Gln Single submitter metachromatic leukodystrophy
p.Pro194Ala Single submitter
p.Pro220Thr Single submitter metachromatic leukodystrophy
p.Pro233Arg Single submitter metachromatic leukodystrophy
p.Pro233Thr Single submitter metachromatic leukodystrophy
p.Pro315Thr Single submitter metachromatic leukodystrophy
p.Pro326= Single submitter metachromatic leukodystrophy
p.Pro340Ser Single submitter
p.Pro351Leu Single submitter metachromatic leukodystrophy
p.Pro427Leu Single submitter metachromatic leukodystrophy
p.Pro44Thr Single submitter metachromatic leukodystrophy
p.Pro485Ser Single submitter metachromatic leukodystrophy
p.Pro497Ser Single submitter metachromatic leukodystrophy
p.Pro497Thr Single submitter Inborn genetic diseases
p.Pro499Ser Single submitter metachromatic leukodystrophy
p.Pro6Leu Single submitter metachromatic leukodystrophy
p.Pro73Leu Single submitter
p.Pro73Ser Single submitter metachromatic leukodystrophy
p.Ser152Pro Single submitter Inborn genetic diseases