Sugi Variant

Sugi Variant/NAGLU

NAGLU — 1144 ClinVar variants

All ClinVar germline NAGLU variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 399 flagged for review →

99 Pathogenic · 57 Pathogenic/Likely pathogenic · 92 Likely pathogenic · 56 Conflicting · 19 Benign · 8 Benign/Likely benign · 431 Likely benign · 382 Uncertain significance

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

⚑ Evidence disagreements 399

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 14

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 28

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 227

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 227

Predictors split 130

The independent predictors disagree with each other — read with care.

All NAGLU variants

Pathogenic 99

  • c.384-1G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • c.531+1G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • c.531+1G>C Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Arg203Ter Multiple submitters mucopolysaccharidosis type 3B
  • p.Arg234Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2V ⚠
  • p.Arg464Ter Multiple submitters Inborn genetic diseases
  • p.Arg482Trp Multiple submitters NAGLU-related disorder
  • p.Arg565Gln Multiple submitters NAGLU-related disorder
  • p.Arg565Trp Multiple submitters NAGLU-related disorder
  • p.Arg626Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Arg643Cys Multiple submitters mucopolysaccharidosis type 3B ⚠
  • p.Arg674His Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Gln365Ter Multiple submitters mucopolysaccharidosis type 3B
  • p.Glu120Ter Multiple submitters mucopolysaccharidosis type 3B
  • p.Glu153Lys Multiple submitters mucopolysaccharidosis type 3B
  • p.Glu153Ter Multiple submitters mucopolysaccharidosis type 3B
  • p.Glu336Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu639Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly292Arg Multiple submitters mucopolysaccharidosis type 3B
  • p.Ile290fs Multiple submitters mucopolysaccharidosis type 3B
  • p.Leu296fs Multiple submitters Inborn genetic diseases
  • p.Ser169fs Multiple submitters NAGLU-related disorder
  • p.Ser612Gly Multiple submitters mucopolysaccharidosis type 3B ⚠
  • p.Thr137fs Multiple submitters mucopolysaccharidosis type 3B
  • p.Trp144Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Trp168Ter Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Tyr309Cys Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Tyr483fs Multiple submitters mucopolysaccharidosis type 3B
  • c.531+1G>T Single submitter mucopolysaccharidosis type 3B
  • c.679-5_679-1del Single submitter mucopolysaccharidosis type 3B
  • c.764+1G>C Single submitter mucopolysaccharidosis type 3B
  • c.765-1G>C Single submitter
  • p.Ala333fs Single submitter mucopolysaccharidosis type 3B
  • p.Ala364fs Single submitter mucopolysaccharidosis type 3B
  • p.Ala430fs Single submitter mucopolysaccharidosis type 3B
  • p.Ala625fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Arg112_Pro115del Single submitter mucopolysaccharidosis type 3B
  • p.Arg149fs Single submitter mucopolysaccharidosis type 3B
  • p.Arg152Ter Single submitter mucopolysaccharidosis type 3B
  • p.Arg393fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Asn160fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Asn315fs Single submitter
  • p.Asp342fs Single submitter mucopolysaccharidosis type 3B
  • p.Cys136Ter Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Cys99fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gln318fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gln355fs Single submitter mucopolysaccharidosis type 3B
  • p.Gln388Ter Single submitter mucopolysaccharidosis type 3B
  • p.Gln524Ter Single submitter mucopolysaccharidosis type 3B
  • p.Gln566Ter Single submitter mucopolysaccharidosis type 3B
  • p.Gln569Ter Single submitter mucopolysaccharidosis type 3B
  • p.Gln640Ter Single submitter mucopolysaccharidosis type 3B
  • p.Gln645Ter Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu123Ter Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu172fs Single submitter mucopolysaccharidosis type 3B
  • p.Glu28fs Single submitter mucopolysaccharidosis type 3B
  • p.Glu446fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu446Gly Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu608fs Single submitter mucopolysaccharidosis type 3B
  • p.Glu680Ter Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly689fs Single submitter mucopolysaccharidosis type 3B
  • p.His270fs Single submitter mucopolysaccharidosis type 3B
  • p.Leu108fs Single submitter mucopolysaccharidosis type 3B
  • p.Leu164fs Single submitter mucopolysaccharidosis type 3B
  • p.Leu199fs Single submitter mucopolysaccharidosis type 3B
  • p.Leu214fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Leu497Val Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Leu591_Leu592insTer Single submitter mucopolysaccharidosis type 3B
  • p.Lys301fs Single submitter mucopolysaccharidosis type 3B
  • p.Met238fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Phe142fs Single submitter mucopolysaccharidosis type 3B
  • p.Phe537fs Single submitter Inborn genetic diseases
  • p.Pro111fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Pro250fs Single submitter mucopolysaccharidosis type 3B
  • p.Ser106fs Single submitter mucopolysaccharidosis type 3B
  • p.Ser274fs Single submitter mucopolysaccharidosis type 3B
  • p.Ser274Ter Single submitter mucopolysaccharidosis type 3B
  • p.Thr239delinsAlaTer Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Thr476fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Thr564fs Single submitter mucopolysaccharidosis type 3B
  • p.Trp103Ter Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Trp147Ter Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Trp150Ter Single submitter mucopolysaccharidosis type 3B
  • p.Trp175Ter Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Trp201Ter Single submitter mucopolysaccharidosis type 3B
  • p.Trp210fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Trp218Ter Single submitter mucopolysaccharidosis type 3B
  • p.Trp347Ter Single submitter mucopolysaccharidosis type 3B
  • p.Trp361Cys Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Trp675Ter Single submitter mucopolysaccharidosis type 3B
  • p.Tyr129Ter Single submitter mucopolysaccharidosis type 3B
  • p.Tyr326Ter Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Tyr558Ter Single submitter mucopolysaccharidosis type 3B
  • p.Tyr638Ter Single submitter mucopolysaccharidosis type 3B
  • p.Tyr658Cys Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Val390fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Val485fs Single submitter mucopolysaccharidosis type 3B
  • p.Val518fs Single submitter
  • p.Trp649fs No assertion criteria mucopolysaccharidosis type 3B

Pathogenic/Likely pathogenic 57

  • c.1022-2A>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • c.383+1G>T Multiple submitters NAGLU-related disorder
  • c.678+1G>A Multiple submitters mucopolysaccharidosis type 3B
  • p.Arg234Pro Multiple submitters mucopolysaccharidosis type 3B
  • p.Arg297Ter Multiple submitters lysosomal storage disease
  • p.Arg482Gln Multiple submitters mucopolysaccharidosis type 3B
  • p.Arg520Trp Multiple submitters mucopolysaccharidosis type 3B
  • p.Arg533Ter Multiple submitters mucopolysaccharidosis type 3B
  • p.Arg565Leu Multiple submitters mucopolysaccharidosis type 3B
  • p.Arg565Pro Multiple submitters mucopolysaccharidosis type 3B
  • p.Arg674Cys Multiple submitters mucopolysaccharidosis type 3B
  • p.Asn413fs Multiple submitters mucopolysaccharidosis type 3B
  • p.Asn700fs Multiple submitters mucopolysaccharidosis type 3B
  • p.Asp312Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Asp559Asn Multiple submitters mucopolysaccharidosis type 3B
  • p.Asp559Tyr Multiple submitters mucopolysaccharidosis type 3B
  • p.Cys97Trp Multiple submitters Mucopolysaccharidosistype IIIB
  • p.Gln226Ter Multiple submitters mucopolysaccharidosis type 3B
  • p.Gln232Ter Multiple submitters mucopolysaccharidosis type 3B
  • p.Gln400fs Multiple submitters mucopolysaccharidosis type 3B
  • p.Gln450Ter Multiple submitters mucopolysaccharidosis type 3B
  • p.Gln688Ter Multiple submitters mucopolysaccharidosis type 3B
  • p.Gln694Ter Multiple submitters mucopolysaccharidosis type 3B
  • p.Gln706Ter Multiple submitters mucopolysaccharidosis type 3B
  • p.Glu446Lys Multiple submitters mucopolysaccharidosis type 3B
  • p.Glu452Lys Multiple submitters mucopolysaccharidosis type 3B ⚠
  • p.Glu634Lys Multiple submitters NAGLU-related disorder
  • p.Glu705Lys Multiple submitters mucopolysaccharidosis type 3B
  • p.Gly426Asp Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly650Glu Multiple submitters mucopolysaccharidosis type 3B
  • p.His248fs Multiple submitters mucopolysaccharidosis type 3B
  • p.His414Arg Multiple submitters mucopolysaccharidosis type 3B ⚠
  • p.His487fs Multiple submitters mucopolysaccharidosis type 3B
  • p.Ile403Thr Multiple submitters NAGLU-related disorder
  • p.Leu550Pro Multiple submitters mucopolysaccharidosis type 3B ⚠
  • p.Leu561Arg Multiple submitters mucopolysaccharidosis type 3B
  • p.Leu591Pro Multiple submitters mucopolysaccharidosis type 3B
  • p.Leu682Arg Multiple submitters mucopolysaccharidosis type 3B
  • p.Met1Thr Multiple submitters mucopolysaccharidosis type 3B
  • p.Phe314Leu Multiple submitters mucopolysaccharidosis type 3B ⚠
  • p.Pro115Ser Multiple submitters mucopolysaccharidosis type 3B
  • p.Pro215fs Multiple submitters mucopolysaccharidosis type 3B
  • p.Pro319Leu Multiple submitters mucopolysaccharidosis type 3B
  • p.Pro521Leu Multiple submitters NAGLU-related disorder
  • p.Pro604Leu Multiple submitters mucopolysaccharidosis type 3B ⚠
  • p.Ser217fs Multiple submitters mucopolysaccharidosis type 3B
  • p.Ser500fs Multiple submitters mucopolysaccharidosis type 3B
  • p.Thr392fs Multiple submitters mucopolysaccharidosis type 3B
  • p.Trp361Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Trp404Ter Multiple submitters Inborn genetic diseases
  • p.Trp494Ter Multiple submitters NAGLU-related disorder
  • p.Trp621Ter Multiple submitters mucopolysaccharidosis type 3B
  • p.Trp649Leu Multiple submitters mucopolysaccharidosis type 3B
  • p.Tyr140Cys Multiple submitters mucopolysaccharidosis type 3B
  • p.Tyr335Cys Multiple submitters mucopolysaccharidosis type 3B ⚠
  • p.Tyr65fs Multiple submitters mucopolysaccharidosis type 3B
  • p.Val12fs Multiple submitters mucopolysaccharidosis type 3B

Likely pathogenic 92

  • c.1021+1G>A Multiple submitters mucopolysaccharidosis type 3B
  • p.Arg130Cys Multiple submitters mucopolysaccharidosis type 3B
  • p.Arg234Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu639fs Multiple submitters mucopolysaccharidosis type 3B
  • p.His227Pro Multiple submitters mucopolysaccharidosis type 3B
  • p.Ile154Arg Multiple submitters mucopolysaccharidosis type 3B
  • p.Leu348Arg Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Pro516Leu Multiple submitters mucopolysaccharidosis type 3B ⚠
  • p.Thr437Ile Multiple submitters mucopolysaccharidosis type 3B
  • p.Trp649Ser Multiple submitters mucopolysaccharidosis type 3B
  • p.Tyr335Ser Multiple submitters mucopolysaccharidosis type 3B ⚠
  • p.Tyr455Ser Multiple submitters cardiomyopathy
  • p.Val724fs Multiple submitters mucopolysaccharidosis type 3B
  • c.1021+1G>T Single submitter mucopolysaccharidosis type 3B
  • c.383+1G>A Single submitter mucopolysaccharidosis type 3B
  • c.384-2A>G Single submitter mucopolysaccharidosis type 3B
  • c.532-1G>A Single submitter mucopolysaccharidosis type 3B
  • c.532-1G>C Single submitter mucopolysaccharidosis type 3B
  • c.764+1G>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.764+2T>C Single submitter mucopolysaccharidosis type 3B
  • p.Ala340fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala395fs Single submitter
  • p.Ala582fs Single submitter Abnormality of metabolism/homeostasis
  • p.Arg234His Single submitter Charcot-Marie-Tooth disease axonal type 2V ⚠
  • p.Arg255fs Single submitter NAGLU-related disorder
  • p.Arg38Gln Single submitter mucopolysaccharidosis type 3B
  • p.Arg431fs Single submitter
  • p.Arg674Leu Single submitter mucopolysaccharidosis type 3B
  • p.Arg674Ser Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Asn127Lys Single submitter mucopolysaccharidosis type 3B
  • p.Asn660Asp Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Asp312Ala Single submitter mucopolysaccharidosis type 3B
  • p.Asp312His Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Asp382fs Single submitter mucopolysaccharidosis type 3B
  • p.Gln133fs Single submitter mucopolysaccharidosis type 3B
  • p.Gln133Ter Single submitter NAGLU-related disorder
  • p.Gln186Ter Single submitter mucopolysaccharidosis type 3B
  • p.Gln569fs Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu153_Ile154delinsTer Single submitter mucopolysaccharidosis type 3B
  • p.Glu153Asp Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu302Lys Single submitter mucopolysaccharidosis type 3B
  • p.Glu507fs Single submitter NAGLU-related disorder
  • p.Glu680fs Single submitter
  • p.Gly161Asp Single submitter mucopolysaccharidosis type 3B
  • p.Gly202fs Single submitter mucopolysaccharidosis type 3B
  • p.Gly247Trp Single submitter mucopolysaccharidosis type 3B
  • p.Gly292Glu Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly310Arg Single submitter ⚠
  • p.Gly426Ala Single submitter mucopolysaccharidosis type 3B ⚠
  • p.His248Arg Single submitter mucopolysaccharidosis type 3B
  • p.His408Gln Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Ile403Phe Single submitter mucopolysaccharidosis type 3B
  • p.Leu280fs Single submitter mucopolysaccharidosis type 3B
  • p.Leu349Phe Single submitter ⚠
  • p.Leu561Pro Single submitter Charcot-Marie-Tooth disease axonal type 2V ⚠
  • p.Leu561Val Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Leu732fs Single submitter mucopolysaccharidosis type 3B
  • p.Met438Arg Single submitter mucopolysaccharidosis type 3B
  • p.Phe257fs Single submitter NAGLU-related disorder
  • p.Phe314fs Single submitter
  • p.Phe314Val Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Phe397Val Single submitter mucopolysaccharidosis type 3B
  • p.Phe537Ser Single submitter ⚠
  • p.Pro115Leu Single submitter mucopolysaccharidosis type 3B
  • p.Pro196Leu Single submitter mucopolysaccharidosis type 3B
  • p.Pro213Leu Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Ser278Phe Single submitter mucopolysaccharidosis type 3B
  • p.Ser612Asn Single submitter mucopolysaccharidosis type 3B
  • p.Trp145del Single submitter NAGLU-related disorder
  • p.Trp145Ter Single submitter mucopolysaccharidosis type 3B
  • p.Trp156Cys Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Trp210Ter Single submitter mucopolysaccharidosis type 3B
  • p.Trp268Ter Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Trp649Cys Single submitter mucopolysaccharidosis type 3B
  • p.Trp649Ter Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Tyr140Asn Single submitter mucopolysaccharidosis type 3B
  • p.Tyr140Ser Single submitter mucopolysaccharidosis type 3B
  • p.Tyr179fs Single submitter mucopolysaccharidosis type 3B
  • p.Tyr309His Single submitter mucopolysaccharidosis type 3B
  • p.Tyr309Phe Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Val334Phe Single submitter mucopolysaccharidosis type 3B
  • p.Val439fs Single submitter mucopolysaccharidosis type 3B
  • p.Ala480fs No assertion criteria mucopolysaccharidosis type 3B
  • p.Asp489fs No assertion criteria mucopolysaccharidosis type 3B
  • p.Glu570Ter No assertion criteria mucopolysaccharidosis type 3B
  • p.Glu632fs No assertion criteria mucopolysaccharidosis type 3B
  • p.Gly371fs No assertion criteria mucopolysaccharidosis type 3B
  • p.Leu666fs No assertion criteria mucopolysaccharidosis type 3B
  • p.Ser267fs No assertion criteria mucopolysaccharidosis type 3B
  • p.Ser685fs No assertion criteria mucopolysaccharidosis type 3B
  • p.Trp474Ter No assertion criteria mucopolysaccharidosis type 3B
  • p.Tyr644Ter No assertion criteria mucopolysaccharidosis type 3B

Conflicting classifications of pathogenicity 56

  • c.383+5C>G Single submitter mucopolysaccharidosis type 3B
  • c.384-3C>A Single submitter mucopolysaccharidosis type 3B
  • c.384-4G>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala479Thr Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Ala480Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala582Pro Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Ala664Val Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Arg203Gln Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Arg234Leu Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Arg431Cys Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Arg481Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg514His Single submitter Inborn genetic diseases ⚠
  • p.Arg519= Single submitter mucopolysaccharidosis type 3B
  • p.Arg615Cys Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Arg626Gln Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Arg643His Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Arg720Gln Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Arg720Ter Single submitter mucopolysaccharidosis type 3B
  • p.Asn424= Single submitter mucopolysaccharidosis type 3B
  • p.Asn435Thr Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Asp211Asn Single submitter NAGLU-related disorder ⚠
  • p.Asp382Tyr Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Asp489= Single submitter Inborn genetic diseases
  • p.Cys277del Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gln355Ter Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gln713fs Single submitter mucopolysaccharidosis type 3B
  • p.Gln713Ter Single submitter mucopolysaccharidosis type 3B
  • p.Gly170= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly304Val Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Gly440Arg Single submitter Charcot-Marie-Tooth disease axonal type 2V ⚠
  • p.Ile154Thr Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Leu381Pro Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Leu496Pro Single submitter Charcot-Marie-Tooth disease axonal type 2V ⚠
  • p.Leu498Pro Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Leu571Pro Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Leu682Val Single submitter Charcot-Marie-Tooth disease axonal type 2V ⚠
  • p.Lys729del Single submitter mucopolysaccharidosis type 3B
  • p.Phe314Ser Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Pro118Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro467= Single submitter mucopolysaccharidosis type 3B
  • p.Pro554= Single submitter mucopolysaccharidosis type 3B
  • p.Pro604Ser Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Ser449Asn Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Ser505= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ser620= Single submitter mucopolysaccharidosis type 3B
  • p.Thr441Met Single submitter Charcot-Marie-Tooth disease axonal type 2V ⚠
  • p.Trp361Leu Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Trp404Cys Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Tyr140His Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Tyr391Cys Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Tyr455Cys Single submitter Charcot-Marie-Tooth disease axonal type 2V ⚠
  • p.Tyr638= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Tyr670Ser Single submitter Inborn genetic diseases ⚠
  • p.Val334Ile Single submitter Charcot-Marie-Tooth disease axonal type 2V ⚠
  • p.Val373= Single submitter mucopolysaccharidosis type 3B
  • p.Val501= Single submitter mucopolysaccharidosis type 3B

Benign 19

Benign/Likely benign 8

  • c.1021+15T>C Multiple submitters mucopolysaccharidosis type 3B
  • c.764+19C>G Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Arg737Gly Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Gln450= Multiple submitters mucopolysaccharidosis type 3B
  • p.Leu225= Multiple submitters mucopolysaccharidosis type 3B
  • p.Lys661= Multiple submitters mucopolysaccharidosis type 3B
  • p.Pro521= Multiple submitters mucopolysaccharidosis type 3B
  • p.Ser141= Multiple submitters mucopolysaccharidosis type 3B

Likely benign 431

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

  • c.1022-20C>T Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • c.384-284A>C Multiple submitters
  • c.764+10C>T Multiple submitters mucopolysaccharidosis type 3B
  • c.764+11G>A Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala244= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala479= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala539= Multiple submitters mucopolysaccharidosis type 3B
  • p.Ala633= Multiple submitters mucopolysaccharidosis type 3B
  • p.Ala635= Multiple submitters mucopolysaccharidosis type 3B
  • p.Arg375His Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Asp562= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Asp607= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Asp613= Multiple submitters mucopolysaccharidosis type 3B
  • p.Gln566= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu53= Multiple submitters mucopolysaccharidosis type 3B
  • p.Glu538= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu570= Multiple submitters mucopolysaccharidosis type 3B
  • p.Gly484= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.His356= Multiple submitters mucopolysaccharidosis type 3B
  • p.Ile291= Multiple submitters mucopolysaccharidosis type 3B
  • p.Leu588= Multiple submitters mucopolysaccharidosis type 3B
  • p.Leu646= Multiple submitters mucopolysaccharidosis type 3B
  • p.Phe142= Multiple submitters
  • p.Phe245= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Phe271= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Phe303= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Phe708= Multiple submitters Inborn genetic diseases
  • p.Pro358= Multiple submitters mucopolysaccharidosis type 3B
  • p.Pro516= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Ser522= Multiple submitters mucopolysaccharidosis type 3B
  • p.Ser685= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Thr209= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • p.Thr392= Multiple submitters mucopolysaccharidosis type 3B
  • p.Val241= Multiple submitters Charcot-Marie-Tooth disease axonal type 2V
  • c.1021+11T>A Single submitter mucopolysaccharidosis type 3B
  • c.1021+13G>C Single submitter mucopolysaccharidosis type 3B
  • c.1021+15T>G Single submitter mucopolysaccharidosis type 3B
  • c.1021+16G>A Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.1021+18G>A Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.1021+8G>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.1021+9C>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.1022-10C>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.1022-10C>T Single submitter mucopolysaccharidosis type 3B
  • c.1022-11C>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.1022-13C>G Single submitter mucopolysaccharidosis type 3B
  • c.1022-14C>T Single submitter mucopolysaccharidosis type 3B
  • c.1022-17C>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.1022-18C>A Single submitter mucopolysaccharidosis type 3B
  • c.1022-18C>G Single submitter mucopolysaccharidosis type 3B
  • c.1022-4A>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.1022-8G>A Single submitter mucopolysaccharidosis type 3B
  • c.383+10C>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.383+10C>T Single submitter mucopolysaccharidosis type 3B
  • c.383+11G>A Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.383+13A>G Single submitter mucopolysaccharidosis type 3B
  • c.383+14G>A Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.383+15C>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.383+16T>A Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.383+16T>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.383+17del Single submitter mucopolysaccharidosis type 3B
  • c.383+17T>A Single submitter mucopolysaccharidosis type 3B
  • c.383+18C>A Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.383+18C>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.383+20C>A Single submitter mucopolysaccharidosis type 3B
  • c.383+7C>G Single submitter mucopolysaccharidosis type 3B
  • c.383+7C>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.383+8C>G Single submitter mucopolysaccharidosis type 3B
  • c.383+9C>T Single submitter mucopolysaccharidosis type 3B
  • c.384-10C>T Single submitter mucopolysaccharidosis type 3B
  • c.384-11A>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.384-12C>A Single submitter mucopolysaccharidosis type 3B
  • c.384-12C>G Single submitter mucopolysaccharidosis type 3B
  • c.384-12C>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.384-15T>A Single submitter mucopolysaccharidosis type 3B
  • c.384-16A>T Single submitter mucopolysaccharidosis type 3B
  • c.384-18T>C Single submitter mucopolysaccharidosis type 3B
  • c.384-19C>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.384-25C>G Single submitter
  • c.384-4G>A Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.384-5C>T Single submitter mucopolysaccharidosis type 3B
  • c.384-8G>A Single submitter mucopolysaccharidosis type 3B
  • c.384-8G>T Single submitter mucopolysaccharidosis type 3B
  • c.384-9T>C Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.531+10C>G Single submitter mucopolysaccharidosis type 3B
  • c.531+10C>T Single submitter mucopolysaccharidosis type 3B
  • c.531+12C>T Single submitter mucopolysaccharidosis type 3B
  • c.531+157G>A Single submitter
  • c.531+15T>C Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.531+16C>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.531+17C>T Single submitter mucopolysaccharidosis type 3B
  • c.531+3G>A Single submitter
  • c.531+8C>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.531+9C>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.532-11T>C Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.532-11T>G Single submitter mucopolysaccharidosis type 3B
  • c.532-14C>T Single submitter mucopolysaccharidosis type 3B
  • c.532-18T>C Single submitter mucopolysaccharidosis type 3B
  • c.532-19G>T Single submitter mucopolysaccharidosis type 3B
  • c.532-6C>T Single submitter mucopolysaccharidosis type 3B
  • c.532-9C>T Single submitter mucopolysaccharidosis type 3B
  • c.678+10T>C Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.678+17G>A Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.678+4A>G Single submitter mucopolysaccharidosis type 3B
  • c.678+7G>C Single submitter mucopolysaccharidosis type 3B
  • c.678+8del Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.678+8G>A Single submitter mucopolysaccharidosis type 3B
  • c.678+8G>C Single submitter mucopolysaccharidosis type 3B
  • c.679-11T>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.679-15_679-12del Single submitter mucopolysaccharidosis type 3B
  • c.679-15C>T Single submitter mucopolysaccharidosis type 3B
  • c.679-16C>G Single submitter mucopolysaccharidosis type 3B
  • c.679-16C>T Single submitter mucopolysaccharidosis type 3B
  • c.679-18T>A Single submitter mucopolysaccharidosis type 3B
  • c.679-19C>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.679-19C>T Single submitter mucopolysaccharidosis type 3B
  • c.679-20C>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.679-5T>C Single submitter mucopolysaccharidosis type 3B
  • c.679-6C>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.679-7C>A Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.679-7C>T Single submitter mucopolysaccharidosis type 3B
  • c.679-9T>C Single submitter mucopolysaccharidosis type 3B
  • c.764+10C>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.764+10del Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.764+12C>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.764+14C>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.764+15A>G Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.764+16C>T Single submitter mucopolysaccharidosis type 3B
  • c.764+17C>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.764+19C>A Single submitter mucopolysaccharidosis type 3B
  • c.764+19C>T Single submitter mucopolysaccharidosis type 3B
  • c.764+20C>A Single submitter mucopolysaccharidosis type 3B
  • c.764+7T>G Single submitter mucopolysaccharidosis type 3B
  • c.764+8T>C Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.764+9C>T Single submitter mucopolysaccharidosis type 3B
  • c.765-12G>C Single submitter mucopolysaccharidosis type 3B
  • c.765-14T>C Single submitter mucopolysaccharidosis type 3B
  • c.765-16T>C Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.765-17C>T Single submitter mucopolysaccharidosis type 3B
  • c.765-238del Single submitter
  • c.765-4C>T Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • c.765-5A>G Single submitter mucopolysaccharidosis type 3B
  • c.765-5A>T Single submitter mucopolysaccharidosis type 3B
  • p.Ala102= Single submitter mucopolysaccharidosis type 3B
  • p.Ala116= Single submitter mucopolysaccharidosis type 3B
  • p.Ala124= Single submitter mucopolysaccharidosis type 3B
  • p.Ala148= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala158= Single submitter mucopolysaccharidosis type 3B
  • p.Ala167= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala173= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala181= Single submitter mucopolysaccharidosis type 3B
  • p.Ala181Asp Single submitter mucopolysaccharidosis type 3B
  • p.Ala246= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala252= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala311= Single submitter mucopolysaccharidosis type 3B
  • p.Ala328= Single submitter mucopolysaccharidosis type 3B
  • p.Ala329= Single submitter mucopolysaccharidosis type 3B
  • p.Ala330= Single submitter mucopolysaccharidosis type 3B
  • p.Ala333= Single submitter mucopolysaccharidosis type 3B
  • p.Ala37= Single submitter mucopolysaccharidosis type 3B
  • p.Ala372= Single submitter mucopolysaccharidosis type 3B
  • p.Ala419= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala429= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala430= Single submitter mucopolysaccharidosis type 3B
  • p.Ala444= Single submitter mucopolysaccharidosis type 3B
  • p.Ala490= Single submitter mucopolysaccharidosis type 3B
  • p.Ala493= Single submitter mucopolysaccharidosis type 3B
  • p.Ala508= Single submitter mucopolysaccharidosis type 3B
  • p.Ala555= Single submitter mucopolysaccharidosis type 3B
  • p.Ala567= Single submitter mucopolysaccharidosis type 3B
  • p.Ala579Val Single submitter Inborn genetic diseases
  • p.Ala582= Single submitter mucopolysaccharidosis type 3B
  • p.Ala589= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala589Val Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala594= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala599= Single submitter mucopolysaccharidosis type 3B
  • p.Ala605= Single submitter mucopolysaccharidosis type 3B
  • p.Ala611= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala627= Single submitter mucopolysaccharidosis type 3B
  • p.Ala628= Single submitter mucopolysaccharidosis type 3B
  • p.Ala659= Single submitter mucopolysaccharidosis type 3B
  • p.Ala664= Single submitter mucopolysaccharidosis type 3B
  • p.Ala668= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala681= Single submitter mucopolysaccharidosis type 3B
  • p.Ala687= Single submitter mucopolysaccharidosis type 3B
  • p.Ala707= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ala740= Single submitter mucopolysaccharidosis type 3B
  • p.Ala740Pro Single submitter mucopolysaccharidosis type 3B ⚠
  • p.Ala8= Single submitter mucopolysaccharidosis type 3B
  • p.Arg109= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Arg130= Single submitter mucopolysaccharidosis type 3B
  • p.Arg203= Single submitter mucopolysaccharidosis type 3B
  • p.Arg228= Single submitter mucopolysaccharidosis type 3B
  • p.Arg234= Single submitter mucopolysaccharidosis type 3B
  • p.Arg297= Single submitter mucopolysaccharidosis type 3B
  • p.Arg33= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Arg393= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Arg431= Single submitter mucopolysaccharidosis type 3B
  • p.Arg481= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Arg482= Single submitter mucopolysaccharidosis type 3B
  • p.Arg499= Single submitter mucopolysaccharidosis type 3B
  • p.Arg514= Single submitter mucopolysaccharidosis type 3B
  • p.Arg54= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Arg541= Single submitter mucopolysaccharidosis type 3B
  • p.Arg557= Single submitter mucopolysaccharidosis type 3B
  • p.Arg565= Single submitter mucopolysaccharidosis type 3B
  • p.Arg593= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Arg643= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Arg674= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Arg737= Single submitter mucopolysaccharidosis type 3B
  • p.Arg94= Single submitter mucopolysaccharidosis type 3B
  • p.Asn127= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Asn134= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Asn163= Single submitter mucopolysaccharidosis type 3B
  • p.Asn206= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Asn261= Single submitter mucopolysaccharidosis type 3B
  • p.Asn435= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Asn451= Single submitter mucopolysaccharidosis type 3B
  • p.Asn503= Single submitter mucopolysaccharidosis type 3B
  • p.Asn513= Single submitter mucopolysaccharidosis type 3B
  • p.Asn660= Single submitter mucopolysaccharidosis type 3B
  • p.Asp155= Single submitter mucopolysaccharidosis type 3B
  • p.Asp285= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Asp535= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Asp559= Single submitter mucopolysaccharidosis type 3B
  • p.Cys136= Single submitter mucopolysaccharidosis type 3B
  • p.Cys273= Single submitter mucopolysaccharidosis type 3B
  • p.Cys277= Single submitter mucopolysaccharidosis type 3B
  • p.Cys504= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Cys509= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gln107= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gln259= Single submitter mucopolysaccharidosis type 3B
  • p.Gln350= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gln365= Single submitter mucopolysaccharidosis type 3B
  • p.Gln400= Single submitter mucopolysaccharidosis type 3B
  • p.Gln524= Single submitter mucopolysaccharidosis type 3B
  • p.Gln569= Single submitter mucopolysaccharidosis type 3B
  • p.Gln718= Single submitter mucopolysaccharidosis type 3B
  • p.Glu153= Single submitter mucopolysaccharidosis type 3B
  • p.Glu172= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu251= Single submitter mucopolysaccharidosis type 3B
  • p.Glu298= Single submitter mucopolysaccharidosis type 3B
  • p.Glu323= Single submitter mucopolysaccharidosis type 3B
  • p.Glu344= Single submitter mucopolysaccharidosis type 3B
  • p.Glu421= Single submitter mucopolysaccharidosis type 3B
  • p.Glu460= Single submitter mucopolysaccharidosis type 3B
  • p.Glu601= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu608= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Glu623= Single submitter mucopolysaccharidosis type 3B
  • p.Glu632= Single submitter mucopolysaccharidosis type 3B
  • p.Gly105= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly161= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly183= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly202= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly205= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly23= Single submitter mucopolysaccharidosis type 3B
  • p.Gly247= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly269= Single submitter mucopolysaccharidosis type 3B
  • p.Gly310= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly362= Single submitter mucopolysaccharidosis type 3B
  • p.Gly371= Single submitter mucopolysaccharidosis type 3B
  • p.Gly376= Single submitter mucopolysaccharidosis type 3B
  • p.Gly411= Single submitter mucopolysaccharidosis type 3B
  • p.Gly415= Single submitter mucopolysaccharidosis type 3B
  • p.Gly418= Single submitter mucopolysaccharidosis type 3B
  • p.Gly426= Single submitter mucopolysaccharidosis type 3B
  • p.Gly442= Single submitter mucopolysaccharidosis type 3B
  • p.Gly462= Single submitter mucopolysaccharidosis type 3B
  • p.Gly511= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly596= Single submitter mucopolysaccharidosis type 3B
  • p.Gly619= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly650= Single submitter mucopolysaccharidosis type 3B
  • p.Gly653= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Gly689= Single submitter mucopolysaccharidosis type 3B
  • p.Gly98= Single submitter mucopolysaccharidosis type 3B
  • p.His219= Single submitter mucopolysaccharidosis type 3B
  • p.His248= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.His408= Single submitter mucopolysaccharidosis type 3B
  • p.His695= Single submitter mucopolysaccharidosis type 3B
  • p.Ile220= Single submitter mucopolysaccharidosis type 3B
  • p.Ile290= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ile291Leu Single submitter mucopolysaccharidosis type 3B
  • p.Ile403= Single submitter mucopolysaccharidosis type 3B
  • p.Ile448= Single submitter mucopolysaccharidosis type 3B
  • p.Ile655= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Ile690= Single submitter mucopolysaccharidosis type 3B
  • p.Leu108= Single submitter mucopolysaccharidosis type 3B
  • p.Leu114= Single submitter mucopolysaccharidosis type 3B
  • p.Leu164= Single submitter mucopolysaccharidosis type 3B
  • p.Leu166= Single submitter mucopolysaccharidosis type 3B
  • p.Leu207= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Leu214= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Leu281= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Leu294= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Leu296= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Leu299= Single submitter mucopolysaccharidosis type 3B
  • p.Leu348= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Leu349= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Leu370= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Leu378= Single submitter Charcot-Marie-Tooth disease axonal type 2V
  • p.Leu379= Single submitter mucopolysaccharidosis type 3B

Uncertain significance 382

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