IDS — 1313 ClinVar variants

All ClinVar germline IDS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 294 flagged for review →

391 Pathogenic · 79 Pathogenic/Likely pathogenic · 207 Likely pathogenic · 63 Conflicting · 35 Benign · 30 Benign/Likely benign · 286 Likely benign · 222 Uncertain significance

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

⚑ Evidence disagreements 294

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 13

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

IDS p.Ala205Thr Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 2
IDS p.Ala85Ser Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 2
IDS p.Asp35His Likely pathogenic Multiple submitters
mucopolysaccharidosis type 2
IDS p.Asp35Tyr Likely pathogenic Single submitter
Inborn genetic diseases
IDS p.Asp471His Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Glu125Val Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Gly343Arg Likely pathogenic Single submitter
IDS p.Leu381Arg Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Leu381Pro Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Leu447Phe Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Phe155Leu Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Pro423Ser Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Thr214Arg Likely pathogenic Single submitter
mucopolysaccharidosis type 2

Predictors agree, ClinVar conflicts 33

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

IDS p.Arg294Gln Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Arg445His Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Arg458Cys Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Arg458His Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Arg48Cys Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Arg493Cys Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Arg498Thr Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Asn534His Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Asp252Asn Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Asp319Glu Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Asp35Gly Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Glu344Lys Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Gly134Arg Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Gly312Ser Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Gly489Ala Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Leu10Phe Conflicting Single submitter
Inborn genetic diseases
IDS p.Leu11Phe Conflicting Single submitter
Inborn genetic diseases
IDS p.Leu67Pro Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Lys227Glu Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Met535Thr Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Pro120Leu Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Pro120Ser Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Pro261Ala Conflicting Single submitter
Inborn genetic diseases
IDS p.Pro266Ser Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Pro284Leu Conflicting Single submitter
Inborn genetic diseases
IDS p.Pro408Ser Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Ser491Tyr Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Ser87Asn Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Thr214Met Conflicting Single submitter
Inborn genetic diseases
IDS p.Thr367Ser Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Thr500Ile Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Val20Leu Conflicting Single submitter
Inborn genetic diseases
IDS p.Val83Gly Conflicting Single submitter
mucopolysaccharidosis type 2

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

IDS p.Arg498fs Conflicting Single submitter
mucopolysaccharidosis type 2

Predictors lean, ClinVar uncertain 119

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

IDS p.Arg445Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IDS p.Asp320Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Cys432Phe Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Leu259Gln Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Phe378Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Pro157Arg Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Pro261Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Pro266Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Pro358Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Pro97Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Ser143Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Thr494Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Tyr122Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Tyr225Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Val262Glu Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Ala113Thr Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ala324Asp Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Ala324Thr Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ala338Asp Uncertain significance Single submitter
IDS p.Ala36Thr Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ala387Ser Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Ala82Thr Uncertain significance Single submitter
IDS p.Arg101Ser Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Arg297Gly Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Arg395Gly Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Arg395Thr Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Arg421Cys Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Arg443Gly Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Arg48His Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Arg96Gly Uncertain significance Single submitter
IDS p.Asn106Lys Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Asn126Ser Uncertain significance Single submitter
IDS p.Asn38Lys Uncertain significance Single submitter
IDS p.Asn537Ser Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Asp104Val Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Asp257Glu Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Asp269Gly Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Asp275Glu Uncertain significance Single submitter
IDS p.Asp320His Uncertain significance Single submitter
IDS p.Asp35Val Uncertain significance Single submitter
IDS p.Asp450Glu Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Asp471Asn Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Asp528Val Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Asp56Asn Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Cys184Tyr Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Gln204Arg Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Gln29Leu Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Gln75Arg Uncertain significance Single submitter
IDS p.Gln75Glu Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Glu193Gln Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Glu193Lys Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Glu521Gly Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Gly258Asp Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Gly340Ser Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Gly435Cys Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Gly455Val Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Gly541Cys Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.His179Arg Uncertain significance Single submitter
IDS p.His441Gln Uncertain significance Single submitter
IDS p.His533Leu Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Ile141Val Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ile288Thr Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ile42Val Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ile487Val Uncertain significance Single submitter
IDS p.Ile495Val Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Leu102Gln Uncertain significance Single submitter
IDS p.Leu241Ser Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Leu400Pro Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Leu40Pro Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Leu544Ile Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Leu548Phe Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Lys236Arg Uncertain significance Single submitter
IDS p.Lys479Arg Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Lys483Glu Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Met488Val Uncertain significance Single submitter
IDS p.Phe219Leu Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Phe545Ser Uncertain significance Single submitter
IDS p.Pro260Arg Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro2Arg Uncertain significance Single submitter
IDS p.Pro364Ser Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro371Ser Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro393Ala Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro451Leu Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro4Thr Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Pro550Arg Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro550His Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ser117Phe Uncertain significance Single submitter
IDS p.Ser132Leu Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Ser316Thr Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Ser464Gly Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ser539Phe Uncertain significance Single submitter
IDS p.Ser90Cys Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Thr34Ala Uncertain significance Single submitter
IDS p.Thr34Lys Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Trp502Arg Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Tyr108His Uncertain significance Single submitter
IDS p.Tyr128Ser Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Tyr242Cys Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Tyr264Cys Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Tyr300Asp Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Tyr466Cys Uncertain significance Single submitter
IDS p.Val111Leu Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Val191Ala Uncertain significance Single submitter
IDS p.Val223Phe Uncertain significance Single submitter
IDS p.Val22Ile Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Val357Ala Uncertain significance Single submitter
IDS p.Val39Asp Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Val39Ile Uncertain significance Single submitter
IDS p.Val418Ala Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Val429Ile Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Val83Ala Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Val89Gly Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Val89Ile Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ala23Thr Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
IDS p.Gln207His Uncertain significance No assertion criteria
IDS-related disorder
IDS p.Gln465Arg Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
IDS p.Leu11Pro Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
IDS p.Pro97Ala Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
IDS p.Thr6Ala Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A

Predictors split 128

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

IDS p.Ala317Asp Uncertain significance Multiple submitters
Inborn genetic diseases
IDS p.Ala346Val Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 3A
IDS p.Ala79Gly Benign/Likely benign Multiple submitters
mucopolysaccharidosis type 2
IDS p.Ala79Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Ala85Thr Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 2
IDS p.Arg101His Uncertain significance Multiple submitters
Inborn genetic diseases
IDS p.Arg297His Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Arg313Cys Benign/Likely benign Multiple submitters
mucopolysaccharidosis type 2
IDS p.Asp104Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Asp252Tyr Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Gln293Arg Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Gly374Val Uncertain significance Multiple submitters
Inborn genetic diseases
IDS p.Ile230Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Ile230Phe Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 2
IDS p.Ile42Met Uncertain significance Multiple submitters
IDS p.Ile64Thr Uncertain significance Multiple submitters
Inborn genetic diseases
IDS p.Pro156Gln Benign Multiple submitters
mucopolysaccharidosis type 2
IDS p.Pro160Ala Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Pro243Ser Benign/Likely benign Multiple submitters
Inborn genetic diseases
IDS p.Pro260Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Pro469Ala Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Pro473Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Pro480Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Ser470Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Thr118Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Thr130Ala Uncertain significance Multiple submitters
mucopolysaccharidosis type 2
IDS p.Tyr463Cys Uncertain significance Multiple submitters
Inborn genetic diseases
IDS p.Tyr497Cys Benign/Likely benign Multiple submitters
mucopolysaccharidosis type 2
IDS p.Val223Ile Benign/Likely benign Multiple submitters
mucopolysaccharidosis type 2
IDS p.Ala250Thr Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Ala278Val Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ala302Ser Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ala346Thr Conflicting Single submitter
mucopolysaccharidosis type 3A
IDS p.Ala519Val Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Arg101Cys Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Arg233Gly Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Arg273Leu Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Arg273Trp Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Arg294Trp Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Arg297Cys Likely benign Single submitter
mucopolysaccharidosis type 2
IDS p.Arg313His Uncertain significance Single submitter
IDS-related disorder
IDS p.Arg493His Conflicting Single submitter
Inborn genetic diseases
IDS p.Asn115Ser Uncertain significance Single submitter
IDS p.Asn167Ser Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Asn181Ile Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Asn350His Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Asn76Ser Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Asp175Glu Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Asp319Asn Likely benign Single submitter
mucopolysaccharidosis type 2
IDS p.Asp382His Conflicting Single submitter
Inborn genetic diseases
IDS p.Asp382Tyr Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Asp478Asn Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Asp56Tyr Likely benign Single submitter
IDS p.Asp98Asn Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Cys84Ser Pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Glu203Val Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Glu375Lys Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Gly127Asp Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Gly173Arg Likely benign Single submitter
mucopolysaccharidosis type 2
IDS p.Gly176Val Uncertain significance Single submitter
IDS p.Gly435Asp Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Gly55Val Uncertain significance Single submitter
Inborn genetic diseases
IDS p.His342Arg Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Ile329Thr Uncertain significance Single submitter
IDS p.Ile485Leu Pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Ile485Met Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ile485Thr Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Leu178Val Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Leu182Pro Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Leu403Val Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Leu67Met Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Leu73Phe Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Lys295Ile Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Phe105Leu Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Phe116Val Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Phe232Ile Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Phe292Leu Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Phe91Leu Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Pro150Leu Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro150Ser Likely benign Single submitter
mucopolysaccharidosis type 2
IDS p.Pro157Ser Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Pro185Ser Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro192Arg Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Pro260Thr Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro289Leu Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Pro364Ala Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro383Thr Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro419Thr Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro420Leu Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro420Thr Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Pro423Leu Likely benign Single submitter
Inborn genetic diseases
IDS p.Pro473Leu Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Pro529Ser Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Ser161Cys Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ser161Phe Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ser162Pro Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Ser299Ile Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Ser349Asn Conflicting Single submitter
Inborn genetic diseases
IDS p.Ser349Ile Pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Ser405Phe Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Ser464Thr Uncertain significance Single submitter
IDS p.Ser515Tyr Uncertain significance Single submitter
IDS p.Thr195Asn Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Thr33Ile Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Thr34Ile Uncertain significance Single submitter
IDS p.Thr367Met Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Thr409Met Likely benign Single submitter
mucopolysaccharidosis type 2
IDS p.Thr500Ala Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Trp337Leu Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Tyr151His Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Tyr264Asn Likely pathogenic Single submitter
mucopolysaccharidosis type 2
IDS p.Tyr285Cys Uncertain significance Single submitter
IDS p.Tyr306His Uncertain significance Single submitter
Inborn genetic diseases
IDS p.Tyr362Cys Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Tyr463His Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Val186Ala Likely benign Single submitter
mucopolysaccharidosis type 2
IDS p.Val276Leu Likely benign Single submitter
mucopolysaccharidosis type 2
IDS p.Val311Leu Conflicting Single submitter
mucopolysaccharidosis type 2
IDS p.Val311Phe Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Val353Phe Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Val503Ala Uncertain significance Single submitter
mucopolysaccharidosis type 2
IDS p.Arg313Ser Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
IDS p.Asp532Val Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
IDS p.Lys479Met Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
IDS p.Pro185Leu Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
IDS p.Pro469Ser Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
IDS p.Ser71Cys Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
IDS p.Tyr151Cys Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A

All IDS variants

Pathogenic 391

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

c.1006+1G>C Multiple submitters mucopolysaccharidosis type 2
c.1006+1G>T Multiple submitters mucopolysaccharidosis type 2
c.1007-1G>A Multiple submitters mucopolysaccharidosis type 2
c.103+1G>A Multiple submitters mucopolysaccharidosis type 2
c.1181-1G>C Multiple submitters mucopolysaccharidosis type 2
c.241-2A>G Multiple submitters mucopolysaccharidosis type 2
c.418+1_418+4del Multiple submitters mucopolysaccharidosis type 2
c.418+1G>C Multiple submitters mucopolysaccharidosis type 2
c.418+2T>C Multiple submitters mucopolysaccharidosis type 2
c.419-2A>G Multiple submitters mucopolysaccharidosis type 2
c.507+1G>A Multiple submitters mucopolysaccharidosis type 2
c.508-1G>C Multiple submitters mucopolysaccharidosis type 2
c.708+1G>T Multiple submitters mucopolysaccharidosis type 2
c.709-1G>C Multiple submitters mucopolysaccharidosis type 2
c.880-2A>G Multiple submitters mucopolysaccharidosis type 2
c.880-2A>T Multiple submitters mucopolysaccharidosis type 2
p.Ala205Pro Multiple submitters mucopolysaccharidosis type 2
p.Ala77Asp Multiple submitters mucopolysaccharidosis type 2
p.Arg172Ter Multiple submitters Inborn genetic diseases
p.Arg443Ter Multiple submitters IDS-related disorder
p.Arg468Gln Multiple submitters mucopolysaccharidosis type 2
p.Arg48Pro Multiple submitters mucopolysaccharidosis type 2
p.Arg88Cys Multiple submitters mucopolysaccharidosis type 2
p.Arg8fs Multiple submitters mucopolysaccharidosis type 2
p.Arg8Ter Multiple submitters mucopolysaccharidosis type 2
p.Asn280fs Multiple submitters mucopolysaccharidosis type 2
p.Asp319fs Multiple submitters mucopolysaccharidosis type 2
p.Cys184Phe Multiple submitters mucopolysaccharidosis type 2
p.Cys432Tyr Multiple submitters mucopolysaccharidosis type 2
p.Cys84Ter Multiple submitters mucopolysaccharidosis type 2
p.Gln121Ter Multiple submitters mucopolysaccharidosis type 2
p.Gln272Ter Multiple submitters mucopolysaccharidosis type 2
p.Gln277Ter Multiple submitters mucopolysaccharidosis type 2
p.Gln389Ter Multiple submitters mucopolysaccharidosis type 2
p.Gln465Ter Multiple submitters mucopolysaccharidosis type 2
p.Gln474Ter Multiple submitters mucopolysaccharidosis type 2
p.Gln66Ter Multiple submitters mucopolysaccharidosis type 2
p.Gln75Ter Multiple submitters mucopolysaccharidosis type 2
p.Gln80Ter Multiple submitters mucopolysaccharidosis type 2
p.Gln81Ter Multiple submitters mucopolysaccharidosis type 2
p.Glu274Ter Multiple submitters mucopolysaccharidosis type 2
p.Glu375Ter Multiple submitters mucopolysaccharidosis type 2
p.Gly224Glu Multiple submitters mucopolysaccharidosis type 2
p.Gly340Asp Multiple submitters mucopolysaccharidosis type 2
p.Gly489fs Multiple submitters mucopolysaccharidosis type 2
p.His138Arg Multiple submitters mucopolysaccharidosis type 2
p.His138fs Multiple submitters mucopolysaccharidosis type 2
p.His159del Multiple submitters mucopolysaccharidosis type 2
p.His70fs Multiple submitters mucopolysaccharidosis type 2
p.Ile296fs Multiple submitters mucopolysaccharidosis type 2
p.Leu406fs Multiple submitters mucopolysaccharidosis type 2
p.Leu482Ter Multiple submitters mucopolysaccharidosis type 2
p.Leu51fs Multiple submitters mucopolysaccharidosis type 2
p.Leu530fs Multiple submitters mucopolysaccharidosis type 2
p.Lys135fs Multiple submitters mucopolysaccharidosis type 2
p.Lys135Glu Multiple submitters mucopolysaccharidosis type 2
p.Lys199fs Multiple submitters mucopolysaccharidosis type 2
p.Lys211fs Multiple submitters Inborn genetic diseases
p.Met488fs Multiple submitters mucopolysaccharidosis type 2
p.Phe137fs Multiple submitters mucopolysaccharidosis type 2
p.Phe155fs Multiple submitters mucopolysaccharidosis type 2
p.Phe351fs Multiple submitters mucopolysaccharidosis type 2
p.Pro251_Asp252insTer Multiple submitters mucopolysaccharidosis type 2
p.Pro261fs Multiple submitters mucopolysaccharidosis type 2
p.Pro86Arg Multiple submitters mucopolysaccharidosis type 2
p.Pro86Leu Multiple submitters mucopolysaccharidosis type 2
p.Ser107fs Multiple submitters mucopolysaccharidosis type 2
p.Ser299fs Multiple submitters mucopolysaccharidosis type 2
p.Ser303fs Multiple submitters mucopolysaccharidosis type 2
p.Ser333Leu Multiple submitters mucopolysaccharidosis type 2
p.Ser369Ter Multiple submitters mucopolysaccharidosis type 2
p.Trp12Ter Multiple submitters mucopolysaccharidosis type 2
p.Trp345Ter Multiple submitters mucopolysaccharidosis type 2
p.Tyr103Ter Multiple submitters mucopolysaccharidosis type 2
p.Tyr348Ter Multiple submitters mucopolysaccharidosis type 2
p.Tyr490Ter Multiple submitters mucopolysaccharidosis type 2
p.Val20fs Multiple submitters mucopolysaccharidosis type 2
p.Val290fs Multiple submitters mucopolysaccharidosis type 2
c.(?_1 Single submitter mucopolysaccharidosis type 2
c.1006+2T>A Single submitter mucopolysaccharidosis type 2
c.1006+2T>C Single submitter mucopolysaccharidosis type 2
c.1006+2T>G Single submitter mucopolysaccharidosis type 2
c.1007_1046del Single submitter mucopolysaccharidosis type 2
c.1007-1G>C Single submitter mucopolysaccharidosis type 2
c.103+1G>C Single submitter
c.103+2T>A Single submitter mucopolysaccharidosis type 2
c.104-1G>A Single submitter mucopolysaccharidosis type 2
c.104-1G>C Single submitter mucopolysaccharidosis type 2
c.104-2A>C Single submitter mucopolysaccharidosis type 2
c.1181-2A>G Single submitter mucopolysaccharidosis type 2
c.186_240+98del Single submitter Inborn genetic diseases
c.240+1G>A Single submitter mucopolysaccharidosis type 2
c.240+1G>C Single submitter mucopolysaccharidosis type 2
c.240+1G>T Single submitter mucopolysaccharidosis type 2
c.240+2T>C Single submitter mucopolysaccharidosis type 2
c.241_284del Single submitter mucopolysaccharidosis type 2
c.241-1G>A Single submitter mucopolysaccharidosis type 2
c.241-1G>C Single submitter mucopolysaccharidosis type 2
c.418+1G>A Single submitter mucopolysaccharidosis type 2
c.418+1G>T Single submitter mucopolysaccharidosis type 2
c.419-1G>C Single submitter mucopolysaccharidosis type 2
c.419-2A>T Single submitter mucopolysaccharidosis type 2
c.420del Single submitter mucopolysaccharidosis type 2
c.420dup Single submitter mucopolysaccharidosis type 2
c.507+1G>C Single submitter mucopolysaccharidosis type 2
c.708+2T>C Single submitter mucopolysaccharidosis type 2
c.709dup Single submitter mucopolysaccharidosis type 2
c.879+1G>A Single submitter mucopolysaccharidosis type 2
c.880-1G>A Single submitter mucopolysaccharidosis type 2
c.880-1G>C Single submitter mucopolysaccharidosis type 2
p.Ala205Asp Single submitter mucopolysaccharidosis type 2
p.Ala216fs Single submitter mucopolysaccharidosis type 2
p.Ala250fs Single submitter mucopolysaccharidosis type 2
p.Ala263fs Single submitter mucopolysaccharidosis type 2
p.Ala278_Leu279insTer Single submitter mucopolysaccharidosis type 2
p.Ala302fs Single submitter mucopolysaccharidosis type 2
p.Ala30fs Single submitter mucopolysaccharidosis type 2
p.Ala330fs Single submitter Inborn genetic diseases
p.Ala346fs Single submitter mucopolysaccharidosis type 2
p.Ala411fs Single submitter mucopolysaccharidosis type 2
p.Ala414fs Single submitter mucopolysaccharidosis type 2
p.Ala79fs Single submitter mucopolysaccharidosis type 2
p.Ala85Pro Single submitter mucopolysaccharidosis type 2
p.Arg110Met Single submitter mucopolysaccharidosis type 2
p.Arg110Ser Single submitter mucopolysaccharidosis type 2
p.Arg233_Tyr234insTer Single submitter Inborn genetic diseases
p.Arg273fs Single submitter mucopolysaccharidosis type 2
p.Arg313fs Single submitter mucopolysaccharidosis type 2
p.Arg366fs Single submitter mucopolysaccharidosis type 2
p.Arg395fs Single submitter mucopolysaccharidosis type 2
p.Arg468_Pro469insTyrProArg Single submitter mucopolysaccharidosis type 2
p.Arg468Gly Single submitter mucopolysaccharidosis type 2
p.Arg468Leu Single submitter mucopolysaccharidosis type 2
p.Arg5fs Single submitter mucopolysaccharidosis type 2
p.Arg88Gly Single submitter mucopolysaccharidosis type 2
p.Arg88Leu Single submitter mucopolysaccharidosis type 2
p.Arg88Pro Single submitter mucopolysaccharidosis type 2
p.Arg88Ser Single submitter mucopolysaccharidosis type 2
p.Arg95fs Single submitter mucopolysaccharidosis type 2
p.Arg95Ser Single submitter mucopolysaccharidosis type 2
p.Arg95Thr Single submitter mucopolysaccharidosis type 2
p.Arg95Trp Single submitter mucopolysaccharidosis type 2
p.Arg96fs Single submitter mucopolysaccharidosis type 2
p.Arg96Ter Single submitter mucopolysaccharidosis type 2
p.Asn106fs Single submitter mucopolysaccharidosis type 2
p.Asn115fs Single submitter mucopolysaccharidosis type 2
p.Asn115Ile Single submitter mucopolysaccharidosis type 2
p.Asn115Tyr Single submitter mucopolysaccharidosis type 2
p.Asn126fs Single submitter mucopolysaccharidosis type 2
p.Asn144Ter Single submitter mucopolysaccharidosis type 2
p.Asn167fs Single submitter mucopolysaccharidosis type 2
p.Asn246fs Single submitter mucopolysaccharidosis type 2
p.Asn350fs Single submitter mucopolysaccharidosis type 2
p.Asn456delinsTrpTer Single submitter mucopolysaccharidosis type 2
p.Asn537fs Single submitter mucopolysaccharidosis type 2
p.Asn63Lys Single submitter mucopolysaccharidosis type 2
p.Asp147fs Single submitter mucopolysaccharidosis type 2
p.Asp148Ala Single submitter mucopolysaccharidosis type 2
p.Asp148His Single submitter mucopolysaccharidosis type 2
p.Asp148Val Single submitter mucopolysaccharidosis type 2
p.Asp187fs Single submitter mucopolysaccharidosis type 2
p.Asp190fs Single submitter mucopolysaccharidosis type 2
p.Asp198fs Single submitter mucopolysaccharidosis type 2
p.Asp252fs Single submitter mucopolysaccharidosis type 2
p.Asp257fs Single submitter mucopolysaccharidosis type 2
p.Asp308Asn Single submitter mucopolysaccharidosis type 2
p.Asp308Glu Single submitter mucopolysaccharidosis type 2
p.Asp308Tyr Single submitter mucopolysaccharidosis type 2
p.Asp320Ter Single submitter mucopolysaccharidosis type 2
p.Asp334Ala Single submitter mucopolysaccharidosis type 2
p.Asp334Asn Single submitter mucopolysaccharidosis type 2
p.Asp35fs Single submitter mucopolysaccharidosis type 2
p.Asp385fs Single submitter mucopolysaccharidosis type 2
p.Asp446fs Single submitter mucopolysaccharidosis type 2
p.Asp450fs Single submitter mucopolysaccharidosis type 2
p.Asp45Asn Single submitter mucopolysaccharidosis type 2
p.Asp45fs Single submitter mucopolysaccharidosis type 2
p.Asp45Glu Single submitter mucopolysaccharidosis type 2
p.Asp46Ala Single submitter mucopolysaccharidosis type 2
p.Asp46Asn Single submitter mucopolysaccharidosis type 2
p.Asp46Glu Single submitter mucopolysaccharidosis type 2
p.Asp471fs Single submitter mucopolysaccharidosis type 2
p.Asp478fs Single submitter mucopolysaccharidosis type 2
p.Asp496fs Single submitter mucopolysaccharidosis type 2
p.Asp526fs Single submitter mucopolysaccharidosis type 2
p.Asp528fs Single submitter mucopolysaccharidosis type 2
p.Asp56fs Single submitter mucopolysaccharidosis type 2
p.Cys171Tyr Single submitter mucopolysaccharidosis type 2
p.Cys184Trp Single submitter mucopolysaccharidosis type 2
p.Cys422Gly Single submitter mucopolysaccharidosis type 2
p.Cys422Ter Single submitter mucopolysaccharidosis type 2
p.Cys432Ter Single submitter mucopolysaccharidosis type 2
p.Cys53_Tyr54insTer Single submitter mucopolysaccharidosis type 2
p.Cys53Ter Single submitter mucopolysaccharidosis type 2
p.Cys84Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Gln121fs Single submitter mucopolysaccharidosis type 2
p.Gln200fs Single submitter mucopolysaccharidosis type 2
p.Gln200Ter Single submitter mucopolysaccharidosis type 2
p.Gln204Ter Single submitter mucopolysaccharidosis type 2
p.Gln239Ter Single submitter mucopolysaccharidosis type 2
p.Gln272fs Single submitter mucopolysaccharidosis type 2
p.Gln293fs Single submitter mucopolysaccharidosis type 2
p.Gln298Ter Single submitter mucopolysaccharidosis type 2
p.Gln29Ter Single submitter mucopolysaccharidosis type 2
p.Gln310Ter Single submitter mucopolysaccharidosis type 2
p.Gln322Ter Single submitter mucopolysaccharidosis type 2
p.Gln396fs Single submitter mucopolysaccharidosis type 2
p.Gln396Ter Single submitter mucopolysaccharidosis type 2
p.Gln81Arg Single submitter mucopolysaccharidosis type 2
p.Glu166Ter Single submitter mucopolysaccharidosis type 2
p.Glu177Ter Single submitter mucopolysaccharidosis type 2
p.Glu245Ter Single submitter mucopolysaccharidosis type 2
p.Glu254Ter Single submitter mucopolysaccharidosis type 2
p.Glu274fs Single submitter mucopolysaccharidosis type 2
p.Glu27fs Single submitter mucopolysaccharidosis type 2
p.Glu27Ter Single submitter mucopolysaccharidosis type 2
p.Glu341fs Single submitter mucopolysaccharidosis type 2
p.Glu372fs Single submitter mucopolysaccharidosis type 2
p.Glu430Ter Single submitter mucopolysaccharidosis type 2
p.Glu459fs Single submitter mucopolysaccharidosis type 2
p.Glu459Ter Single submitter mucopolysaccharidosis type 2
p.Glu509Ter Single submitter mucopolysaccharidosis type 2
p.Glu521fs Single submitter mucopolysaccharidosis type 2
p.Glu521Ter Single submitter mucopolysaccharidosis type 2
p.Gly140Arg Single submitter mucopolysaccharidosis type 2
p.Gly140fs Single submitter mucopolysaccharidosis type 2
p.Gly140Val Single submitter mucopolysaccharidosis type 2
p.Gly14fs Single submitter mucopolysaccharidosis type 2
p.Gly224Arg Single submitter mucopolysaccharidosis type 2
p.Gly25fs Single submitter mucopolysaccharidosis type 2
p.Gly25Ter Single submitter mucopolysaccharidosis type 2
p.Gly336Arg Single submitter mucopolysaccharidosis type 2
p.Gly336Val Single submitter mucopolysaccharidosis type 2
p.Gly340Val Single submitter mucopolysaccharidosis type 2
p.Gly365Ter Single submitter mucopolysaccharidosis type 2
p.Gly412Ter Single submitter mucopolysaccharidosis type 2
p.Gly489Asp Single submitter mucopolysaccharidosis type 2
p.Gly489Val Single submitter mucopolysaccharidosis type 2
p.Gly504fs Single submitter mucopolysaccharidosis type 2
p.Gly52fs Single submitter mucopolysaccharidosis type 2
p.His138Asp Single submitter mucopolysaccharidosis type 2
p.His229fs Single submitter mucopolysaccharidosis type 2
p.His229Leu Single submitter mucopolysaccharidosis type 2
p.His335Pro Single submitter mucopolysaccharidosis type 2
p.His342_Gly343delinsGlnTer Single submitter mucopolysaccharidosis type 2
p.His342fs Single submitter mucopolysaccharidosis type 2
p.His428fs Single submitter mucopolysaccharidosis type 2
p.His441fs Single submitter mucopolysaccharidosis type 2
p.Ile119fs Single submitter mucopolysaccharidosis type 2
p.Ile141fs Single submitter mucopolysaccharidosis type 2
p.Ile270fs Single submitter mucopolysaccharidosis type 2
p.Ile329fs Single submitter mucopolysaccharidosis type 2
p.Ile42fs Single submitter mucopolysaccharidosis type 2
p.Ile43del Single submitter mucopolysaccharidosis type 2
p.Ile43fs Single submitter mucopolysaccharidosis type 2
p.Ile485Arg Single submitter mucopolysaccharidosis type 2
p.Ile485Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Ile64Asn Single submitter mucopolysaccharidosis type 2
p.Leu102fs Single submitter mucopolysaccharidosis type 2
p.Leu10fs Single submitter mucopolysaccharidosis type 2
p.Leu11fs Single submitter mucopolysaccharidosis type 2
p.Leu15fs Single submitter mucopolysaccharidosis type 2
p.Leu182fs Single submitter mucopolysaccharidosis type 2
p.Leu209del Single submitter mucopolysaccharidosis type 2
p.Leu209fs Single submitter mucopolysaccharidosis type 2
p.Leu241_Pro243delinsLysGlyAla Single submitter mucopolysaccharidosis type 2
p.Leu241fs Single submitter mucopolysaccharidosis type 2
p.Leu24fs Single submitter mucopolysaccharidosis type 2
p.Leu259fs Single submitter mucopolysaccharidosis type 2
p.Leu279Ter Single submitter mucopolysaccharidosis type 2
p.Leu314fs Single submitter mucopolysaccharidosis type 2
p.Leu377fs Single submitter mucopolysaccharidosis type 2
p.Leu381fs Single submitter mucopolysaccharidosis type 2
p.Leu400fs Single submitter mucopolysaccharidosis type 2
p.Leu40fs Single submitter mucopolysaccharidosis type 2
p.Leu431_Cys432insTer Single submitter mucopolysaccharidosis type 2
p.Leu438fs Single submitter mucopolysaccharidosis type 2
p.Leu447Ter Single submitter mucopolysaccharidosis type 2
p.Leu482fs Single submitter mucopolysaccharidosis type 2
p.Leu530Ter Single submitter mucopolysaccharidosis type 2
p.Leu58fs Single submitter mucopolysaccharidosis type 2
p.Lys135Asn Single submitter mucopolysaccharidosis type 2
p.Lys169Ter Single submitter mucopolysaccharidosis type 2
p.Lys199Ter Single submitter mucopolysaccharidosis type 2
p.Lys213Ter Single submitter mucopolysaccharidosis type 2
p.Lys236fs Single submitter mucopolysaccharidosis type 2
p.Lys347_Tyr348insTer Single submitter mucopolysaccharidosis type 2
p.Lys347fs Single submitter mucopolysaccharidosis type 2
p.Lys347Gln Single submitter mucopolysaccharidosis type 2
p.Lys347Ile Single submitter mucopolysaccharidosis type 2
p.Met1Leu Single submitter mucopolysaccharidosis type 2
p.Met268fs Single submitter mucopolysaccharidosis type 2
p.Met398fs Single submitter mucopolysaccharidosis type 2
p.Phe105fs Single submitter mucopolysaccharidosis type 2
p.Phe137Ser Single submitter mucopolysaccharidosis type 2
p.Phe220fs Single submitter mucopolysaccharidosis type 2
p.Phe292fs Single submitter mucopolysaccharidosis type 2
p.Phe384fs Single submitter mucopolysaccharidosis type 2
p.Phe407fs Single submitter mucopolysaccharidosis type 2
p.Phe74fs Single submitter mucopolysaccharidosis type 2

Pathogenic/Likely pathogenic 79

c.1007-2A>C Multiple submitters mucopolysaccharidosis type 2
c.1007-8T>G Multiple submitters mucopolysaccharidosis type 2
c.104-2A>G Multiple submitters mucopolysaccharidosis type 2
c.1181-1G>A Multiple submitters mucopolysaccharidosis type 2
c.419-1G>A Multiple submitters mucopolysaccharidosis type 2
c.708+1G>A Multiple submitters mucopolysaccharidosis type 2
c.709-1G>A Multiple submitters mucopolysaccharidosis type 2
p.Ala205Thr Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Ala346Val Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Ala82Val Multiple submitters mucopolysaccharidosis type 2
p.Ala85Asp Multiple submitters mucopolysaccharidosis type 2
p.Ala85Ser Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Ala85Thr Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Arg110Gly Multiple submitters mucopolysaccharidosis type 2
p.Arg468fs Multiple submitters mucopolysaccharidosis type 2
p.Arg468Pro Multiple submitters mucopolysaccharidosis type 2
p.Arg468Trp Multiple submitters mucopolysaccharidosis type 2
p.Arg493Pro Multiple submitters mucopolysaccharidosis type 2
p.Arg88His Multiple submitters mucopolysaccharidosis type 2
p.Arg95Gly Multiple submitters mucopolysaccharidosis type 2
p.Asn265Lys Multiple submitters mucopolysaccharidosis type 2
p.Asn63Asp Multiple submitters mucopolysaccharidosis type 2
p.Asp148Asn Multiple submitters mucopolysaccharidosis type 2
p.Asp148Tyr Multiple submitters mucopolysaccharidosis type 2
p.Asp269Val Multiple submitters Inborn genetic diseases
p.Asp308Gly Multiple submitters mucopolysaccharidosis type 2
p.Asp45Gly Multiple submitters mucopolysaccharidosis type 2
p.Asp45His Multiple submitters mucopolysaccharidosis type 2
p.Asp478Gly Multiple submitters mucopolysaccharidosis type 2
p.Cys422Arg Multiple submitters mucopolysaccharidosis type 2
p.Cys422Phe Multiple submitters mucopolysaccharidosis type 2
p.Cys422Tyr Multiple submitters mucopolysaccharidosis type 2
p.Cys432Arg Multiple submitters mucopolysaccharidosis type 2
p.Cys84Trp Multiple submitters mucopolysaccharidosis type 2
p.Gln293Ter Multiple submitters mucopolysaccharidosis type 2
p.Gln474fs Multiple submitters mucopolysaccharidosis type 2
p.Gln531Ter Multiple submitters mucopolysaccharidosis type 2
p.Gln80Arg Multiple submitters mucopolysaccharidosis type 2
p.Glu521Lys Multiple submitters mucopolysaccharidosis type 2
p.Gly134Glu Multiple submitters mucopolysaccharidosis type 2
p.Gly224Ala Multiple submitters mucopolysaccharidosis type 2
p.Gly336Glu Multiple submitters mucopolysaccharidosis type 2
p.Gly340Arg Multiple submitters mucopolysaccharidosis type 2
p.Gly374= Multiple submitters mucopolysaccharidosis type 2
p.His138Tyr Multiple submitters mucopolysaccharidosis type 2
p.His229Gln Multiple submitters mucopolysaccharidosis type 2
p.His229Tyr Multiple submitters mucopolysaccharidosis type 2
p.His335Arg Multiple submitters mucopolysaccharidosis type 2
p.His335Tyr Multiple submitters mucopolysaccharidosis type 2
p.Ile230Phe Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Leu196Ser Multiple submitters mucopolysaccharidosis type 2
p.Leu339Pro Multiple submitters mucopolysaccharidosis type 2
p.Leu439fs Multiple submitters mucopolysaccharidosis type 2
p.Lys135Arg Multiple submitters mucopolysaccharidosis type 2
p.Met1Thr Multiple submitters mucopolysaccharidosis type 2
p.Pro120His Multiple submitters mucopolysaccharidosis type 2
p.Pro228Gln Multiple submitters mucopolysaccharidosis type 2
p.Pro228Leu Multiple submitters mucopolysaccharidosis type 2
p.Pro231Arg Multiple submitters mucopolysaccharidosis type 2
p.Pro231Leu Multiple submitters mucopolysaccharidosis type 2
p.Pro383fs Multiple submitters mucopolysaccharidosis type 2
p.Pro467Arg Multiple submitters mucopolysaccharidosis type 2
p.Pro480Leu Multiple submitters mucopolysaccharidosis type 2
p.Ser142Tyr Multiple submitters mucopolysaccharidosis type 2
p.Ser152Arg Multiple submitters mucopolysaccharidosis type 2
p.Ser201fs Multiple submitters mucopolysaccharidosis type 2
p.Ser303Phe Multiple submitters mucopolysaccharidosis type 2
p.Ser333Trp Multiple submitters mucopolysaccharidosis type 2
p.Ser349Arg Multiple submitters mucopolysaccharidosis type 2
p.Ser61Pro Multiple submitters mucopolysaccharidosis type 2
p.Ser71Asn Multiple submitters mucopolysaccharidosis type 2
p.Thr118Ile Multiple submitters IDS-related disorder
p.Trp267Cys Multiple submitters mucopolysaccharidosis type 2
p.Trp345Arg Multiple submitters mucopolysaccharidosis type 2
p.Trp475Ter Multiple submitters mucopolysaccharidosis type 2
p.Trp502Gly Multiple submitters mucopolysaccharidosis type 2
p.Tyr122Ter Multiple submitters mucopolysaccharidosis type 2
p.Tyr499Ter Multiple submitters Inborn genetic diseases
p.Val503Asp Multiple submitters mucopolysaccharidosis type 2

Likely pathogenic 207

c.1007-133A>G Multiple submitters mucopolysaccharidosis type 2
c.241-3C>G Multiple submitters mucopolysaccharidosis type 2
c.418+3A>T Multiple submitters mucopolysaccharidosis type 2
p.Ala346Asp Multiple submitters mucopolysaccharidosis type 2
p.Arg96del Multiple submitters mucopolysaccharidosis type 2
p.Asn265Ile Multiple submitters mucopolysaccharidosis type 2
p.Asp275Asn Multiple submitters mucopolysaccharidosis type 2
p.Asp275Tyr Multiple submitters mucopolysaccharidosis type 2
p.Asp334Gly Multiple submitters mucopolysaccharidosis type 2
p.Asp35His Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Asp46Tyr Multiple submitters mucopolysaccharidosis type 2
p.Glu341Lys Multiple submitters mucopolysaccharidosis type 2
p.Gly312Cys Multiple submitters mucopolysaccharidosis type 2
p.His342Pro Multiple submitters mucopolysaccharidosis type 2
p.His342Tyr Multiple submitters mucopolysaccharidosis type 2
p.Ile328_Thr332del Multiple submitters mucopolysaccharidosis type 2
p.Ile485Lys Multiple submitters mucopolysaccharidosis type 2
p.Leu259Pro Multiple submitters mucopolysaccharidosis type 2
p.Leu92Arg Multiple submitters mucopolysaccharidosis type 2
p.Leu92Pro Multiple submitters mucopolysaccharidosis type 2
p.Lys236= Multiple submitters mucopolysaccharidosis type 2
p.Lys347Arg Multiple submitters mucopolysaccharidosis type 2
p.Pro160His Multiple submitters mucopolysaccharidosis type 2
p.Pro469Arg Multiple submitters Inborn genetic diseases
p.Pro469Leu Multiple submitters mucopolysaccharidosis type 2
p.Ser152Asn Multiple submitters mucopolysaccharidosis type 2
p.Ser305Pro Multiple submitters mucopolysaccharidosis type 2
p.Ser71Arg Multiple submitters Inborn genetic diseases
p.Ser71Ile Multiple submitters mucopolysaccharidosis type 2
p.Thr130Ile Multiple submitters mucopolysaccharidosis type 2
p.Tyr108Asp Multiple submitters mucopolysaccharidosis type 2
p.Tyr108Cys Multiple submitters mucopolysaccharidosis type 2
p.Tyr523Cys Multiple submitters mucopolysaccharidosis type 2
p.Val424fs Multiple submitters mucopolysaccharidosis type 2
c.1006+5G>C Single submitter mucopolysaccharidosis type 2
c.1008_1019del Single submitter mucopolysaccharidosis type 2
c.104-1_104delinsT Single submitter mucopolysaccharidosis type 2
c.104-3T>G Single submitter mucopolysaccharidosis type 2
c.1123_1182del Single submitter mucopolysaccharidosis type 2
c.1181-15C>A Single submitter mucopolysaccharidosis type 2
c.1181-5_1186del Single submitter mucopolysaccharidosis type 2
c.240+2_240+3insTCCCAGA Single submitter mucopolysaccharidosis type 2
c.241-10T>G Single submitter mucopolysaccharidosis type 2
c.708+2T>G Single submitter mucopolysaccharidosis type 2
c.709-2A>G Single submitter mucopolysaccharidosis type 2
c.709-2A>T Single submitter mucopolysaccharidosis type 2
c.880-2_880-1delinsCC Single submitter mucopolysaccharidosis type 2
c.880-8A>G Single submitter mucopolysaccharidosis type 2
p.Ala338Pro Single submitter mucopolysaccharidosis type 2
p.Ala68Glu Single submitter mucopolysaccharidosis type 2
p.Ala79Glu Single submitter mucopolysaccharidosis type 2
p.Ala82Glu Single submitter mucopolysaccharidosis type 2
p.Ala85Val Single submitter mucopolysaccharidosis type 2
p.Arg233fs Single submitter mucopolysaccharidosis type 2
p.Arg233Gly Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg271Trp Single submitter mucopolysaccharidosis type 2
p.Arg433_Gly435del Single submitter mucopolysaccharidosis type 2
p.Arg433fs Single submitter mucopolysaccharidosis type 2
p.Arg443fs Single submitter mucopolysaccharidosis type 2
p.Asn181Ile Single submitter mucopolysaccharidosis type 2 ⚠
p.Asn265fs Single submitter mucopolysaccharidosis type 2
p.Asn350His Single submitter mucopolysaccharidosis type 2 ⚠
p.Asn350Lys Single submitter mucopolysaccharidosis type 2
p.Asn350Tyr Single submitter mucopolysaccharidosis type 2
p.Asn38fs Single submitter mucopolysaccharidosis type 2
p.Asn437fs Single submitter mucopolysaccharidosis type 2
p.Asn476_Lys479del Single submitter mucopolysaccharidosis type 2
p.Asn534Ile Single submitter mucopolysaccharidosis type 2
p.Asp198Ala Single submitter mucopolysaccharidosis type 2
p.Asp198Gly Single submitter mucopolysaccharidosis type 2
p.Asp269Ala Single submitter mucopolysaccharidosis type 2
p.Asp308His Single submitter mucopolysaccharidosis type 2
p.Asp334Tyr Single submitter mucopolysaccharidosis type 2
p.Asp35Tyr Single submitter Inborn genetic diseases ⚠
p.Asp385delinsProLeuProArgProPheTer Single submitter mucopolysaccharidosis type 2
p.Asp45Val Single submitter mucopolysaccharidosis type 2
p.Asp471His Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp478Asn Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp478His Single submitter mucopolysaccharidosis type 2
p.Asp478Tyr Single submitter mucopolysaccharidosis type 2
p.Asp98fs Single submitter mucopolysaccharidosis type 2
p.Cys171Arg Single submitter mucopolysaccharidosis type 2
p.Cys84Tyr Single submitter mucopolysaccharidosis type 2
p.Gln121Arg Single submitter mucopolysaccharidosis type 2
p.Gln121His Single submitter mucopolysaccharidosis type 2
p.Gln121Lys Single submitter mucopolysaccharidosis type 2
p.Gln293= Single submitter mucopolysaccharidosis type 2
p.Gln293His Single submitter mucopolysaccharidosis type 2
p.Gln310Pro Single submitter mucopolysaccharidosis type 2
p.Gln417Ter Single submitter mucopolysaccharidosis type 2
p.Gln465Leu Single submitter mucopolysaccharidosis type 2
p.Gln465Lys Single submitter
p.Gln465Pro Single submitter mucopolysaccharidosis type 2
p.Gln80Lys Single submitter mucopolysaccharidosis type 2
p.Glu125Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Glu402Lys Single submitter mucopolysaccharidosis type 2
p.Glu434Lys Single submitter mucopolysaccharidosis type 2
p.Glu449fs Single submitter mucopolysaccharidosis type 2
p.Glu521Asp Single submitter mucopolysaccharidosis type 2
p.Glu521Val Single submitter mucopolysaccharidosis type 2
p.Gly114fs Single submitter mucopolysaccharidosis type 2
p.Gly134Val Single submitter mucopolysaccharidosis type 2
p.Gly224fs Single submitter mucopolysaccharidosis type 2
p.Gly336Trp Single submitter mucopolysaccharidosis type 2
p.Gly343Arg Single submitter ⚠
p.Gly343Val Single submitter mucopolysaccharidosis type 2
p.Gly394_Met398delinsVal Single submitter mucopolysaccharidosis type 2
p.Gly412fs Single submitter mucopolysaccharidosis type 2
p.Gly541fs Single submitter mucopolysaccharidosis type 2
p.Gly94Asp Single submitter mucopolysaccharidosis type 2
p.His159Pro Single submitter mucopolysaccharidosis type 2
p.His226_Lys227insHis Single submitter mucopolysaccharidosis type 2
p.His226Asp Single submitter mucopolysaccharidosis type 2
p.His335Leu Single submitter mucopolysaccharidosis type 2
p.His342Leu Single submitter mucopolysaccharidosis type 2
p.Ile281_Asp291del Single submitter mucopolysaccharidosis type 2
p.Ile360fs Single submitter mucopolysaccharidosis type 2
p.Ile485fs Single submitter mucopolysaccharidosis type 2
p.Ile487fs Single submitter mucopolysaccharidosis type 2
p.Leu102Arg Single submitter mucopolysaccharidosis type 2
p.Leu102Pro Single submitter mucopolysaccharidosis type 2
p.Leu182Pro Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu221Pro Single submitter mucopolysaccharidosis type 2
p.Leu249fs Single submitter mucopolysaccharidosis type 2
p.Leu259Arg Single submitter mucopolysaccharidosis type 2
p.Leu314Pro Single submitter mucopolysaccharidosis type 2
p.Leu381Arg Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu381Pro Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu403Arg Single submitter mucopolysaccharidosis type 2
p.Leu410fs Single submitter mucopolysaccharidosis type 2
p.Leu410Pro Single submitter mucopolysaccharidosis type 2
p.Leu416_Gln417insHisLeuValGluLeuValSerLeuPheProThrLeuAlaGlyLeuAlaGlyLeu Single submitter mucopolysaccharidosis type 2
p.Leu41Pro Single submitter mucopolysaccharidosis type 2
p.Leu447Phe Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu47Pro Single submitter mucopolysaccharidosis type 2
p.Leu522Pro Single submitter mucopolysaccharidosis type 2
p.Leu67Arg Single submitter mucopolysaccharidosis type 2
p.Leu72Pro Single submitter mucopolysaccharidosis type 2
p.Lys227Gln Single submitter mucopolysaccharidosis type 2
p.Lys347Thr Single submitter mucopolysaccharidosis type 2
p.Lys436fs Single submitter mucopolysaccharidosis type 2
p.Met212fs Single submitter mucopolysaccharidosis type 2
p.Met391fs Single submitter mucopolysaccharidosis type 2
p.Met488Arg Single submitter mucopolysaccharidosis type 2
p.Met488Ile Single submitter mucopolysaccharidosis type 2
p.Phe123fs Single submitter mucopolysaccharidosis type 2
p.Phe155Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Phe232fs Single submitter mucopolysaccharidosis type 2
p.Pro150_Pro157del Single submitter mucopolysaccharidosis type 2
p.Pro197Arg Single submitter mucopolysaccharidosis type 2
p.Pro197Leu Single submitter mucopolysaccharidosis type 2
p.Pro228Ala Single submitter mucopolysaccharidosis type 2
p.Pro228Ser Single submitter mucopolysaccharidosis type 2
p.Pro228Thr Single submitter mucopolysaccharidosis type 2
p.Pro260fs Single submitter mucopolysaccharidosis type 2
p.Pro358Arg Single submitter mucopolysaccharidosis type 2
p.Pro364= Single submitter mucopolysaccharidosis type 2
p.Pro371fs Single submitter mucopolysaccharidosis type 2
p.Pro408_Thr409insGly Single submitter mucopolysaccharidosis type 2
p.Pro408fs Single submitter mucopolysaccharidosis type 2
p.Pro419fs Single submitter mucopolysaccharidosis type 2
p.Pro423Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro469_Ser470insTer Single submitter mucopolysaccharidosis type 2
p.Pro469His Single submitter mucopolysaccharidosis type 2
p.Pro97Arg Single submitter mucopolysaccharidosis type 2
p.Ser117Tyr Single submitter mucopolysaccharidosis type 2
p.Ser132Trp Single submitter mucopolysaccharidosis type 2
p.Ser142Phe Single submitter mucopolysaccharidosis type 2
p.Ser143Phe Single submitter mucopolysaccharidosis type 2
p.Ser162Pro Single submitter mucopolysaccharidosis type 2 ⚠
p.Ser201_Gln204del Single submitter mucopolysaccharidosis type 2
p.Ser299Arg Single submitter mucopolysaccharidosis type 2
p.Ser299Ile Single submitter mucopolysaccharidosis type 2 ⚠
p.Ser303Pro Single submitter mucopolysaccharidosis type 2
p.Ser464_Tyr466del Single submitter mucopolysaccharidosis type 2
p.Ser464Arg Single submitter mucopolysaccharidosis type 2
p.Ser481fs Single submitter mucopolysaccharidosis type 2
p.Ser491Phe Single submitter mucopolysaccharidosis type 2
p.Ser61Phe Single submitter mucopolysaccharidosis type 2
p.Ser61Tyr Single submitter mucopolysaccharidosis type 2
p.Ser90Pro Single submitter mucopolysaccharidosis type 2
p.Thr118del Single submitter mucopolysaccharidosis type 2
p.Thr214Arg Single submitter mucopolysaccharidosis type 2 ⚠
p.Thr327Pro Single submitter mucopolysaccharidosis type 2
p.Thr355fs Single submitter mucopolysaccharidosis type 2
p.Thr409Arg Single submitter mucopolysaccharidosis type 2
p.Thr494delinsIlePheHisIleLeuTyrGlyIleLeuTyrArgTyrSer Single submitter mucopolysaccharidosis type 2
p.Trp109Arg Single submitter mucopolysaccharidosis type 2
p.Trp109Cys Single submitter mucopolysaccharidosis type 2
p.Trp109Gly Single submitter mucopolysaccharidosis type 2
p.Trp345Cys Single submitter mucopolysaccharidosis type 2
p.Trp345Leu Single submitter mucopolysaccharidosis type 2
p.Trp502Cys Single submitter mucopolysaccharidosis type 2
p.Tyr103Asp Single submitter mucopolysaccharidosis type 2
p.Tyr108Ser Single submitter mucopolysaccharidosis type 2
p.Tyr225Asp Single submitter mucopolysaccharidosis type 2
p.Tyr264Asn Single submitter mucopolysaccharidosis type 2 ⚠
p.Tyr348His Single submitter mucopolysaccharidosis type 2
p.Tyr490Ser Single submitter mucopolysaccharidosis type 2
p.Tyr536Ter Single submitter mucopolysaccharidosis type 2
p.Tyr54Asp Single submitter mucopolysaccharidosis type 2
p.Val276_Ala278del Single submitter mucopolysaccharidosis type 2
p.Val401fs Single submitter mucopolysaccharidosis type 2
p.Val404fs Single submitter mucopolysaccharidosis type 2
p.Val44fs Single submitter mucopolysaccharidosis type 2
p.Val89Phe Single submitter mucopolysaccharidosis type 2
p.Pro420fs No assertion criteria mucopolysaccharidosis type 2

Conflicting classifications of pathogenicity 63

c.1007-4C>T Single submitter mucopolysaccharidosis type 2
c.241-5A>T Single submitter mucopolysaccharidosis type 2
c.241-9C>G Single submitter mucopolysaccharidosis type 2
c.419-16dup Single submitter mucopolysaccharidosis type 2
c.880-72A>G Single submitter mucopolysaccharidosis type 2
p.Ala250Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Ala346Thr Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg101Cys Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg273Trp Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg294Gln Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg445His Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg458Cys Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg458His Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg48Cys Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg493Cys Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg493His Single submitter Inborn genetic diseases ⚠
p.Arg498fs Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg498Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Asn534His Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp175Glu Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp252Asn Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp319Glu Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp35Gly Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp382His Single submitter Inborn genetic diseases ⚠
p.Glu344Lys Single submitter mucopolysaccharidosis type 2 ⚠
p.Gly134Arg Single submitter mucopolysaccharidosis type 2 ⚠
p.Gly312Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Gly489Ala Single submitter mucopolysaccharidosis type 2 ⚠
p.His342Arg Single submitter mucopolysaccharidosis type 2 ⚠
p.Ile485Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu10Phe Single submitter Inborn genetic diseases ⚠
p.Leu11Phe Single submitter Inborn genetic diseases ⚠
p.Leu41del Single submitter mucopolysaccharidosis type 2
p.Leu67Pro Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu73del Single submitter mucopolysaccharidosis type 2
p.Lys227Glu Single submitter mucopolysaccharidosis type 2 ⚠
p.Lys295Ile Single submitter mucopolysaccharidosis type 2 ⚠
p.Met535Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro120Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro120Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro157Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro192Arg Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro228= Single submitter Inborn genetic diseases
p.Pro261Ala Single submitter Inborn genetic diseases ⚠
p.Pro266Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro284Leu Single submitter Inborn genetic diseases ⚠
p.Pro289Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro408Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro473Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro529Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Ser132= Single submitter mucopolysaccharidosis type 2
p.Ser349Asn Single submitter Inborn genetic diseases ⚠
p.Ser491Tyr Single submitter mucopolysaccharidosis type 2 ⚠
p.Ser87Asn Single submitter mucopolysaccharidosis type 2 ⚠
p.Thr214Met Single submitter Inborn genetic diseases ⚠
p.Thr367Met Single submitter mucopolysaccharidosis type 2 ⚠
p.Thr367Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Thr409= Single submitter mucopolysaccharidosis type 2
p.Thr500Ile Single submitter mucopolysaccharidosis type 2 ⚠
p.Tyr362Cys Single submitter mucopolysaccharidosis type 2 ⚠
p.Val20Leu Single submitter Inborn genetic diseases ⚠
p.Val311Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Val83Gly Single submitter mucopolysaccharidosis type 2 ⚠

Benign 35

c.1006+226= Multiple submitters
c.1007-362T>C Multiple submitters
c.1180+165A>G Multiple submitters
c.1180+184T>C Multiple submitters
c.418+442A>G Multiple submitters
p.Ala222= Multiple submitters Inborn genetic diseases
p.Pro156Gln Multiple submitters mucopolysaccharidosis type 2 ⚠
c.1007-7G>C Single submitter mucopolysaccharidosis type 2
c.103+144T>G Single submitter
c.1181-14G>A Single submitter mucopolysaccharidosis type 2
c.1181-15C>T Single submitter mucopolysaccharidosis type 2
c.240+146dup Single submitter
c.240+327G>A Single submitter
c.418+14T>C Single submitter mucopolysaccharidosis type 2
c.418+17A>G Single submitter mucopolysaccharidosis type 2
c.419-133dup Single submitter
c.507+127_507+129del Single submitter
c.709-680= Single submitter
c.880-11dup Single submitter mucopolysaccharidosis type 2
c.880-4G>A Single submitter mucopolysaccharidosis type 2
c.*224del Single submitter
p.Arg443= Single submitter mucopolysaccharidosis type 2
p.Arg5Trp Single submitter mucopolysaccharidosis type 2
p.Asp516= Single submitter mucopolysaccharidosis type 2
p.Gln298= Single submitter mucopolysaccharidosis type 2
p.Glu430= Single submitter mucopolysaccharidosis type 2
p.Glu449= Single submitter mucopolysaccharidosis type 2
p.Gly9= Single submitter mucopolysaccharidosis type 2
p.Leu381= Single submitter mucopolysaccharidosis type 2
p.Met212Ile Single submitter mucopolysaccharidosis type 2
p.Phe232= Single submitter mucopolysaccharidosis type 2
p.Pro261Thr Single submitter mucopolysaccharidosis type 2
p.Pro371= Single submitter mucopolysaccharidosis type 2
p.Val59= Single submitter mucopolysaccharidosis type 2
c.709-680C>T No assertion criteria

Benign/Likely benign 30

c.103+5C>T Multiple submitters Inborn genetic diseases
c.103+7C>T Multiple submitters mucopolysaccharidosis type 2
c.1181-13C>T Multiple submitters mucopolysaccharidosis type 2
c.418+12T>C Multiple submitters Inborn genetic diseases
c.419-6del Multiple submitters mucopolysaccharidosis type 2
c.709-661del Multiple submitters mucopolysaccharidosis type 3A
p.Ala387Thr Multiple submitters Inborn genetic diseases
p.Ala79Gly Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Arg313Cys Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Arg8Leu Multiple submitters Inborn genetic diseases
p.Asp275= Multiple submitters mucopolysaccharidosis type 2
p.Asp319= Multiple submitters mucopolysaccharidosis type 2
p.Gly14Asp Multiple submitters Inborn genetic diseases
p.His112= Multiple submitters Inborn genetic diseases
p.Ile42= Multiple submitters mucopolysaccharidosis type 2
p.Leu41= Multiple submitters mucopolysaccharidosis type 2
p.Lys295Arg Multiple submitters Inborn genetic diseases
p.Phe78= Multiple submitters Inborn genetic diseases
p.Pro243Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro251= Multiple submitters Inborn genetic diseases
p.Pro358= Multiple submitters Inborn genetic diseases
p.Pro423= Multiple submitters Inborn genetic diseases
p.Ser149Ala Multiple submitters Inborn genetic diseases
p.Ser386= Multiple submitters mucopolysaccharidosis type 2
p.Thr309Ala Multiple submitters Inborn genetic diseases
p.Tyr497Cys Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Tyr54= Multiple submitters mucopolysaccharidosis type 2
p.Val223Ile Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Val283= Multiple submitters mucopolysaccharidosis type 2
p.Val290Met Multiple submitters mucopolysaccharidosis type 2

Likely benign 286

c.104-16C>T Multiple submitters mucopolysaccharidosis type 2
c.418+11A>G Multiple submitters mucopolysaccharidosis type 2
c.507+7C>T Multiple submitters mucopolysaccharidosis type 2
c.880-19A>T Multiple submitters mucopolysaccharidosis type 2
p.Cys84= Multiple submitters mucopolysaccharidosis type 2
p.Gln239= Multiple submitters mucopolysaccharidosis type 2
p.Glu254Lys Multiple submitters mucopolysaccharidosis type 2
p.Ile119= Multiple submitters Inborn genetic diseases
p.Leu13= Multiple submitters Inborn genetic diseases
p.Pro192= Multiple submitters mucopolysaccharidosis type 2
p.Pro371Leu Multiple submitters Inborn genetic diseases
p.Ser333= Multiple submitters Inborn genetic diseases
p.Ser61= Multiple submitters mucopolysaccharidosis type 2
p.Thr214= Multiple submitters mucopolysaccharidosis type 2
p.Thr28= Multiple submitters Inborn genetic diseases
p.Thr332Ile Multiple submitters Inborn genetic diseases
p.Tyr103= Multiple submitters mucopolysaccharidosis type 2
p.Val311= Multiple submitters mucopolysaccharidosis type 2
p.Val404= Multiple submitters mucopolysaccharidosis type 2
p.Val424Ile Multiple submitters mucopolysaccharidosis type 2
c.1006+12G>T Single submitter mucopolysaccharidosis type 2
c.1006+19C>G Single submitter mucopolysaccharidosis type 2
c.1006+19C>T Single submitter mucopolysaccharidosis type 2
c.1006+8T>C Single submitter mucopolysaccharidosis type 2
c.1006+9T>C Single submitter mucopolysaccharidosis type 2
c.1007-173A>G Single submitter
c.1007-177C>T Single submitter
c.1007-20C>T Single submitter mucopolysaccharidosis type 2
c.1007-381G>A Single submitter
c.1007-9A>G Single submitter mucopolysaccharidosis type 2
c.103+11C>T Single submitter mucopolysaccharidosis type 2
c.103+12G>A Single submitter mucopolysaccharidosis type 2
c.103+13C>G Single submitter mucopolysaccharidosis type 2
c.103+14C>T Single submitter mucopolysaccharidosis type 2
c.103+19C>T Single submitter mucopolysaccharidosis type 2
c.103+32del Single submitter
c.103+6G>A Single submitter mucopolysaccharidosis type 2
c.103+9C>T Single submitter mucopolysaccharidosis type 2
c.104-10T>A Single submitter mucopolysaccharidosis type 2
c.104-16C>G Single submitter mucopolysaccharidosis type 2
c.104-17C>T Single submitter mucopolysaccharidosis type 2
c.104-19G>A Single submitter mucopolysaccharidosis type 2
c.104-4G>A Single submitter mucopolysaccharidosis type 2
c.104-7T>C Single submitter mucopolysaccharidosis type 2
c.104-9C>G Single submitter mucopolysaccharidosis type 2
c.1180+10A>G Single submitter mucopolysaccharidosis type 2
c.1180+14T>C Single submitter mucopolysaccharidosis type 2
c.1180+17A>G Single submitter mucopolysaccharidosis type 2
c.1180+20G>A Single submitter mucopolysaccharidosis type 2
c.1180+7A>C Single submitter mucopolysaccharidosis type 2
c.1181-19C>G Single submitter mucopolysaccharidosis type 2
c.240+11del Single submitter mucopolysaccharidosis type 2
c.240+12A>G Single submitter mucopolysaccharidosis type 2
c.240+13A>G Single submitter mucopolysaccharidosis type 2
c.240+14C>T Single submitter mucopolysaccharidosis type 2
c.240+20G>A Single submitter mucopolysaccharidosis type 2
c.240+7C>T Single submitter mucopolysaccharidosis type 2
c.241-14C>G Single submitter mucopolysaccharidosis type 2
c.241-16T>C Single submitter mucopolysaccharidosis type 2
c.241-5A>G Single submitter mucopolysaccharidosis type 2
c.241-6T>G Single submitter mucopolysaccharidosis type 2
c.241-7C>T Single submitter mucopolysaccharidosis type 2
c.418+10C>T Single submitter mucopolysaccharidosis type 2
c.418+14T>A Single submitter mucopolysaccharidosis type 2
c.418+20G>T Single submitter mucopolysaccharidosis type 2
c.418+34G>T Single submitter mucopolysaccharidosis type 2
c.418+8T>C Single submitter mucopolysaccharidosis type 2
c.418+9C>G Single submitter mucopolysaccharidosis type 2
c.419-10T>C Single submitter mucopolysaccharidosis type 2
c.419-10T>G Single submitter mucopolysaccharidosis type 2
c.419-12T>A Single submitter mucopolysaccharidosis type 2
c.419-17C>G Single submitter mucopolysaccharidosis type 2
c.419-4del Single submitter mucopolysaccharidosis type 2
c.419-6T>C Single submitter mucopolysaccharidosis type 2
c.507+14A>G Single submitter mucopolysaccharidosis type 2
c.507+17G>C Single submitter mucopolysaccharidosis type 2
c.507+17G>T Single submitter mucopolysaccharidosis type 2
c.507+20A>G Single submitter mucopolysaccharidosis type 2
c.507+20A>T Single submitter mucopolysaccharidosis type 2
c.507+6G>T Single submitter mucopolysaccharidosis type 2
c.508-15A>G Single submitter mucopolysaccharidosis type 2
c.508-16T>C Single submitter mucopolysaccharidosis type 2
c.508-19T>A Single submitter mucopolysaccharidosis type 2
c.508-19T>C Single submitter mucopolysaccharidosis type 2
c.508-20A>G Single submitter mucopolysaccharidosis type 2
c.508-20del Single submitter mucopolysaccharidosis type 2
c.508-5G>T Single submitter mucopolysaccharidosis type 2
c.508-6T>C Single submitter mucopolysaccharidosis type 2
c.508-8T>G Single submitter mucopolysaccharidosis type 2
c.708+19G>T Single submitter mucopolysaccharidosis type 2
c.709-4C>T Single submitter mucopolysaccharidosis type 2
c.709-5C>T Single submitter mucopolysaccharidosis type 2
c.709-652C>T Single submitter
c.709-662_709-661dup Single submitter
c.709-672G>T Single submitter
c.879+10A>G Single submitter mucopolysaccharidosis type 2
c.879+11del Single submitter mucopolysaccharidosis type 2
c.879+12A>G Single submitter mucopolysaccharidosis type 2
c.879+14A>G Single submitter mucopolysaccharidosis type 2
c.879+17T>G Single submitter mucopolysaccharidosis type 2
c.879+20G>A Single submitter mucopolysaccharidosis type 2
c.879+7A>G Single submitter mucopolysaccharidosis type 2
c.879+9G>C Single submitter mucopolysaccharidosis type 2
c.880-12T>G Single submitter mucopolysaccharidosis type 2
c.880-19A>G Single submitter mucopolysaccharidosis type 2
c.880-19del Single submitter mucopolysaccharidosis type 2
c.880-20T>A Single submitter mucopolysaccharidosis type 2
c.880-5del Single submitter mucopolysaccharidosis type 2
c.-162C>G Single submitter
c.*224dup Single submitter
p.Ala180= Single submitter mucopolysaccharidosis type 2
p.Ala23= Single submitter mucopolysaccharidosis type 2
p.Ala250= Single submitter mucopolysaccharidosis type 2
p.Ala278= Single submitter mucopolysaccharidosis type 2
p.Ala36= Single submitter mucopolysaccharidosis type 2
p.Ala512= Single submitter mucopolysaccharidosis type 2
p.Ala77= Single submitter mucopolysaccharidosis type 2
p.Ala79= Single submitter mucopolysaccharidosis type 2
p.Ala82= Single submitter mucopolysaccharidosis type 2
p.Arg110= Single submitter Inborn genetic diseases
p.Arg172= Single submitter mucopolysaccharidosis type 2
p.Arg271= Single submitter mucopolysaccharidosis type 2
p.Arg273= Single submitter mucopolysaccharidosis type 2
p.Arg297Cys Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg433Gly Single submitter mucopolysaccharidosis type 2
p.Arg445= Single submitter mucopolysaccharidosis type 2
p.Arg445Cys Single submitter mucopolysaccharidosis type 2
p.Arg493= Single submitter mucopolysaccharidosis type 2
p.Arg5= Single submitter mucopolysaccharidosis type 2
p.Arg8= Single submitter mucopolysaccharidosis type 2
p.Arg88= Single submitter mucopolysaccharidosis type 2
p.Arg95= Single submitter mucopolysaccharidosis type 2
p.Asn126= Single submitter mucopolysaccharidosis type 2
p.Asn167= Single submitter mucopolysaccharidosis type 2
p.Asn246= Single submitter mucopolysaccharidosis type 2
p.Asn265= Single submitter mucopolysaccharidosis type 2
p.Asn31Ser Single submitter mucopolysaccharidosis type 2
p.Asn325Ser Single submitter mucopolysaccharidosis type 2
p.Asn38= Single submitter mucopolysaccharidosis type 2
p.Asn513= Single submitter mucopolysaccharidosis type 2
p.Asn63= Single submitter mucopolysaccharidosis type 2
p.Asp104= Single submitter mucopolysaccharidosis type 2
p.Asp147= Single submitter mucopolysaccharidosis type 2
p.Asp190= Single submitter mucopolysaccharidosis type 2
p.Asp269= Single submitter mucopolysaccharidosis type 2
p.Asp319Asn Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp382Asn Single submitter mucopolysaccharidosis type 2
p.Asp399= Single submitter mucopolysaccharidosis type 2
p.Asp399Val Single submitter mucopolysaccharidosis type 2
p.Asp446= Single submitter mucopolysaccharidosis type 2
p.Asp46= Single submitter mucopolysaccharidosis type 2
p.Asp478= Single submitter mucopolysaccharidosis type 2
p.Asp484= Single submitter mucopolysaccharidosis type 2
p.Asp528= Single submitter mucopolysaccharidosis type 2
p.Asp543= Single submitter mucopolysaccharidosis type 2
p.Asp56Tyr Single submitter ⚠
p.Cys21= Single submitter mucopolysaccharidosis type 2
p.Gln272= Single submitter mucopolysaccharidosis type 2
p.Gln310Arg Single submitter mucopolysaccharidosis type 2
p.Gln322= Single submitter mucopolysaccharidosis type 2
p.Gln389Leu Single submitter mucopolysaccharidosis type 2
p.Gln396= Single submitter mucopolysaccharidosis type 2
p.Gln465= Single submitter mucopolysaccharidosis type 2
p.Gln474= Single submitter mucopolysaccharidosis type 2
p.Gln66= Single submitter mucopolysaccharidosis type 2
p.Gln75= Single submitter mucopolysaccharidosis type 2
p.Glu193Gly Single submitter mucopolysaccharidosis type 2
p.Gly140= Single submitter mucopolysaccharidosis type 2
p.Gly173Arg Single submitter mucopolysaccharidosis type 2 ⚠
p.Gly286= Single submitter mucopolysaccharidosis type 2
p.Gly504= Single submitter mucopolysaccharidosis type 2
p.Gly52= Single submitter mucopolysaccharidosis type 2
p.Gly520= Single submitter mucopolysaccharidosis type 2
p.Gly541= Single submitter mucopolysaccharidosis type 2
p.Gly542= Single submitter mucopolysaccharidosis type 2
p.Gly55= Single submitter mucopolysaccharidosis type 2
p.His138= Single submitter mucopolysaccharidosis type 2
p.His159= Single submitter mucopolysaccharidosis type 2
p.His356Arg Single submitter mucopolysaccharidosis type 2
p.His428= Single submitter mucopolysaccharidosis type 2
p.Ile141Leu Single submitter mucopolysaccharidosis type 2
p.Ile328Val Single submitter mucopolysaccharidosis type 2
p.Ile43= Single submitter mucopolysaccharidosis type 2
p.Ile472= Single submitter mucopolysaccharidosis type 2
p.Leu102= Single submitter mucopolysaccharidosis type 2
p.Leu11= Single submitter mucopolysaccharidosis type 2
p.Leu17= Single submitter mucopolysaccharidosis type 2
p.Leu178= Single submitter mucopolysaccharidosis type 2
p.Leu182= Single submitter mucopolysaccharidosis type 2
p.Leu209= Single submitter mucopolysaccharidosis type 2
p.Leu24= Single submitter mucopolysaccharidosis type 2
p.Leu241= Single submitter mucopolysaccharidosis type 2
p.Leu249= Single submitter mucopolysaccharidosis type 2
p.Leu259= Single submitter mucopolysaccharidosis type 2
p.Leu318= Single submitter mucopolysaccharidosis type 2
p.Leu323= Single submitter mucopolysaccharidosis type 2
p.Leu359= Single submitter mucopolysaccharidosis type 2
p.Leu416= Single submitter mucopolysaccharidosis type 2
p.Leu431= Single submitter mucopolysaccharidosis type 2
p.Leu439= Single submitter mucopolysaccharidosis type 2
p.Leu460= Single submitter mucopolysaccharidosis type 2
p.Leu51= Single submitter mucopolysaccharidosis type 2
p.Leu511= Single submitter mucopolysaccharidosis type 2
p.Leu522= Single submitter mucopolysaccharidosis type 2
p.Leu530= Single submitter mucopolysaccharidosis type 2
p.Leu548= Single submitter mucopolysaccharidosis type 2
p.Leu58= Single submitter mucopolysaccharidosis type 2
p.Lys124= Single submitter mucopolysaccharidosis type 2
p.Lys227= Single submitter mucopolysaccharidosis type 2
p.Lys376= Single submitter mucopolysaccharidosis type 2
p.Lys57= Single submitter mucopolysaccharidosis type 2
p.Phe105= Single submitter mucopolysaccharidosis type 2
p.Phe155= Single submitter mucopolysaccharidosis type 2
p.Phe351= Single submitter mucopolysaccharidosis type 2
p.Phe361Leu Single submitter mucopolysaccharidosis type 2
p.Phe74= Single submitter mucopolysaccharidosis type 2
p.Pro120= Single submitter mucopolysaccharidosis type 2
p.Pro150= Single submitter mucopolysaccharidosis type 2
p.Pro150Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro160= Single submitter mucopolysaccharidosis type 2
p.Pro174= Single submitter mucopolysaccharidosis type 2
p.Pro231= Single submitter mucopolysaccharidosis type 2
p.Pro235= Single submitter mucopolysaccharidosis type 2
p.Pro243= Single submitter mucopolysaccharidosis type 2
p.Pro253= Single submitter mucopolysaccharidosis type 2
p.Pro260= Single submitter mucopolysaccharidosis type 2
p.Pro261= Single submitter mucopolysaccharidosis type 2
p.Pro284= Single submitter mucopolysaccharidosis type 2
p.Pro383= Single submitter mucopolysaccharidosis type 2
p.Pro4= Single submitter mucopolysaccharidosis type 2
p.Pro408Ala Single submitter mucopolysaccharidosis type 2
p.Pro419= Single submitter mucopolysaccharidosis type 2
p.Pro423Leu Single submitter Inborn genetic diseases ⚠
p.Pro425= Single submitter mucopolysaccharidosis type 2
p.Pro451= Single submitter mucopolysaccharidosis type 2
p.Pro451Arg Single submitter mucopolysaccharidosis type 2
p.Pro457= Single submitter mucopolysaccharidosis type 2
p.Pro480= Single submitter mucopolysaccharidosis type 2
p.Pro49= Single submitter mucopolysaccharidosis type 2
p.Pro529= Single submitter mucopolysaccharidosis type 2
p.Pro86= Single submitter mucopolysaccharidosis type 2
p.Ser161= Single submitter mucopolysaccharidosis type 2
p.Ser18= Single submitter mucopolysaccharidosis type 2
p.Ser19= Single submitter mucopolysaccharidosis type 2
p.Ser26= Single submitter mucopolysaccharidosis type 2
p.Ser282= Single submitter mucopolysaccharidosis type 2
p.Ser303= Single submitter mucopolysaccharidosis type 2
p.Ser326= Single submitter mucopolysaccharidosis type 2
p.Ser349= Single submitter mucopolysaccharidosis type 2
p.Ser388= Single submitter mucopolysaccharidosis type 2
p.Ser397= Single submitter mucopolysaccharidosis type 2
p.Ser481= Single submitter mucopolysaccharidosis type 2
p.Ser539= Single submitter mucopolysaccharidosis type 2
p.Ser69= Single submitter mucopolysaccharidosis type 2
p.Ser69Thr Single submitter mucopolysaccharidosis type 2
p.Ser71= Single submitter mucopolysaccharidosis type 2
p.Thr100= Single submitter mucopolysaccharidosis type 2
p.Thr146= Single submitter mucopolysaccharidosis type 2
p.Thr168= Single submitter mucopolysaccharidosis type 2
p.Thr248= Single submitter mucopolysaccharidosis type 2
p.Thr33Ser Single submitter mucopolysaccharidosis type 2
p.Thr355= Single submitter mucopolysaccharidosis type 2
p.Thr367= Single submitter mucopolysaccharidosis type 2
p.Thr409Met Single submitter mucopolysaccharidosis type 2 ⚠
p.Thr494= Single submitter mucopolysaccharidosis type 2
p.Thr500= Single submitter mucopolysaccharidosis type 2
p.Thr6= Single submitter mucopolysaccharidosis type 2
p.Trp12Arg Single submitter mucopolysaccharidosis type 2
p.Tyr158= Single submitter mucopolysaccharidosis type 2
p.Tyr234= Single submitter mucopolysaccharidosis type 2
p.Tyr306= Single submitter mucopolysaccharidosis type 2
p.Tyr348= Single submitter mucopolysaccharidosis type 2
p.Tyr463= Single submitter mucopolysaccharidosis type 2
p.Tyr536= Single submitter mucopolysaccharidosis type 2
p.Val111= Single submitter mucopolysaccharidosis type 2
p.Val186Ala Single submitter mucopolysaccharidosis type 2 ⚠
p.Val22= Single submitter mucopolysaccharidosis type 2
p.Val223= Single submitter mucopolysaccharidosis type 2
p.Val276Ile Single submitter mucopolysaccharidosis type 2
p.Val276Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Val363= Single submitter mucopolysaccharidosis type 2
p.Val401= Single submitter mucopolysaccharidosis type 2
p.Val418= Single submitter mucopolysaccharidosis type 2
p.Val501= Single submitter mucopolysaccharidosis type 2
c.709-671dup No assertion criteria
c.*1G>C No assertion criteria IDS-related disorder

Uncertain significance 222

c.418+4C>G Multiple submitters mucopolysaccharidosis type 2
p.Ala317Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala79Val Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Arg101His Multiple submitters Inborn genetic diseases ⚠
p.Arg297His Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Arg445Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp104Asn Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Asp252Tyr Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Asp320Asn Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Cys432Phe Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Gln293Arg Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Gly374Val Multiple submitters Inborn genetic diseases ⚠
p.Ile230Asn Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Ile42Met Multiple submitters ⚠
p.Ile64Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu259Gln Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Phe378Ser Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Pro157Arg Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Pro160Ala Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Pro260Ser Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Pro261Ser Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Pro266Leu Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Pro358Thr Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Pro469Ala Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Pro473Ser Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Pro480Ser Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Pro97Thr Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Ser143Cys Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Ser470Leu Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Thr118Ser Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Thr130Ala Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Thr494Ile Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Tyr122Asp Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Tyr225Cys Multiple submitters mucopolysaccharidosis type 2 ⚠
p.Tyr463Cys Multiple submitters Inborn genetic diseases ⚠
p.Val262Glu Multiple submitters mucopolysaccharidosis type 2 ⚠
c.1007-1089C>T Single submitter
c.1007-15_1007-9delinsGTGGGCTCTAGG Single submitter mucopolysaccharidosis type 2
c.103+4C>T Single submitter
c.104-6G>T Single submitter
c.240+3A>G Single submitter mucopolysaccharidosis type 2
c.241-4A>G Single submitter mucopolysaccharidosis type 2
c.418+6_418+7del Single submitter mucopolysaccharidosis type 2
c.419-3A>G Single submitter mucopolysaccharidosis type 2
c.708+6G>T Single submitter mucopolysaccharidosis type 2
c.709-657G>A Single submitter mucopolysaccharidosis type 2
c.859_879+2dup Single submitter mucopolysaccharidosis type 2
p.Ala113Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Ala250Val Single submitter mucopolysaccharidosis type 2
p.Ala278Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Ala302Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Ala324Asp Single submitter Inborn genetic diseases ⚠
p.Ala324Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Ala338Asp Single submitter ⚠
p.Ala36Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Ala387Ser Single submitter Inborn genetic diseases ⚠
p.Ala519Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Ala82Thr Single submitter ⚠
p.Arg101Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg233= Single submitter mucopolysaccharidosis type 2
p.Arg273Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg294Trp Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg297Gly Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg313His Single submitter IDS-related disorder ⚠
p.Arg395Gly Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg395Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg421Cys Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg443Gly Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg48His Single submitter mucopolysaccharidosis type 2 ⚠
p.Arg96Gly Single submitter ⚠
p.Asn106Lys Single submitter Inborn genetic diseases ⚠
p.Asn115Ser Single submitter ⚠
p.Asn126Ser Single submitter ⚠
p.Asn167Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Asn38Lys Single submitter ⚠
p.Asn537Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Asn76Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp104Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp257Glu Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp269Gly Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp275Glu Single submitter ⚠
p.Asp320His Single submitter ⚠
p.Asp35Val Single submitter ⚠
p.Asp382Tyr Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp450Glu Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp471Asn Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp528Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp56Asn Single submitter mucopolysaccharidosis type 2 ⚠
p.Asp98Asn Single submitter mucopolysaccharidosis type 2 ⚠
p.Cys184Tyr Single submitter mucopolysaccharidosis type 2 ⚠
p.Gln204Arg Single submitter mucopolysaccharidosis type 2 ⚠
p.Gln29Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Gln75Arg Single submitter ⚠
p.Gln75Glu Single submitter Inborn genetic diseases ⚠
p.Glu193Gln Single submitter mucopolysaccharidosis type 2 ⚠
p.Glu193Lys Single submitter Inborn genetic diseases ⚠
p.Glu203Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Glu375Lys Single submitter mucopolysaccharidosis type 2 ⚠
p.Glu521Gly Single submitter mucopolysaccharidosis type 2 ⚠
p.Gly127Asp Single submitter mucopolysaccharidosis type 2 ⚠
p.Gly176Val Single submitter ⚠
p.Gly258Asp Single submitter mucopolysaccharidosis type 2 ⚠
p.Gly340Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Gly435Asp Single submitter mucopolysaccharidosis type 2 ⚠
p.Gly435Cys Single submitter mucopolysaccharidosis type 2 ⚠
p.Gly455Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Gly541Cys Single submitter mucopolysaccharidosis type 2 ⚠
p.Gly55Val Single submitter Inborn genetic diseases ⚠
p.His179Arg Single submitter ⚠
p.His441Gln Single submitter ⚠
p.His533Leu Single submitter Inborn genetic diseases ⚠
p.Ile141Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Ile288Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Ile329Thr Single submitter ⚠
p.Ile42Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Ile43_Val44insIleIle Single submitter mucopolysaccharidosis type 2
p.Ile485Met Single submitter mucopolysaccharidosis type 2 ⚠
p.Ile487Val Single submitter ⚠
p.Ile495Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu102Gln Single submitter ⚠
p.Leu178Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu241Ser Single submitter Inborn genetic diseases ⚠
p.Leu400Pro Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu403Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu40Pro Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu544Ile Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu548Phe Single submitter mucopolysaccharidosis type 2 ⚠
p.Leu548Ter Single submitter
p.Leu67Met Single submitter Inborn genetic diseases ⚠
p.Leu73Phe Single submitter mucopolysaccharidosis type 2 ⚠
p.Lys236Arg Single submitter ⚠
p.Lys479Arg Single submitter mucopolysaccharidosis type 2 ⚠
p.Lys483Glu Single submitter mucopolysaccharidosis type 2 ⚠
p.Met488Val Single submitter ⚠
p.Phe105Leu Single submitter Inborn genetic diseases ⚠
p.Phe116Val Single submitter mucopolysaccharidosis type 2 ⚠
p.Phe155_Pro156delinsLeuGln Single submitter
p.Phe219Leu Single submitter Inborn genetic diseases ⚠
p.Phe232Ile Single submitter mucopolysaccharidosis type 2 ⚠
p.Phe292Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Phe545Ser Single submitter ⚠
p.Phe91Leu Single submitter Inborn genetic diseases ⚠
p.Pro150Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro185Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro260Arg Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro260Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro2Arg Single submitter ⚠
p.Pro364Ala Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro364Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro371Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro383Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro393Ala Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro419Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro420Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro420Thr Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro451Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro4Thr Single submitter Inborn genetic diseases ⚠
p.Pro550Arg Single submitter mucopolysaccharidosis type 2 ⚠
p.Pro550His Single submitter mucopolysaccharidosis type 2 ⚠
p.Ser117Phe Single submitter ⚠
p.Ser132Leu Single submitter Inborn genetic diseases ⚠
p.Ser161Cys Single submitter mucopolysaccharidosis type 2 ⚠
p.Ser161Phe Single submitter mucopolysaccharidosis type 2 ⚠
p.Ser316Thr Single submitter Inborn genetic diseases ⚠
p.Ser405Phe Single submitter mucopolysaccharidosis type 2 ⚠
p.Ser464Gly Single submitter mucopolysaccharidosis type 2 ⚠
p.Ser464Thr Single submitter ⚠
p.Ser515Tyr Single submitter ⚠
p.Ser539Phe Single submitter ⚠
p.Ser90Cys Single submitter Inborn genetic diseases ⚠
p.Ter551Ser Single submitter
p.Thr195Asn Single submitter Inborn genetic diseases ⚠
p.Thr33Ile Single submitter mucopolysaccharidosis type 2 ⚠
p.Thr34Ala Single submitter ⚠
p.Thr34Ile Single submitter ⚠
p.Thr34Lys Single submitter mucopolysaccharidosis type 2 ⚠
p.Thr500Ala Single submitter mucopolysaccharidosis type 2 ⚠
p.Thr93= Single submitter Inborn genetic diseases
p.Trp337Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Trp502Arg Single submitter mucopolysaccharidosis type 2 ⚠
p.Tyr108His Single submitter ⚠
p.Tyr128Ser Single submitter mucopolysaccharidosis type 2 ⚠
p.Tyr151His Single submitter Inborn genetic diseases ⚠
p.Tyr242Cys Single submitter mucopolysaccharidosis type 2 ⚠
p.Tyr264Cys Single submitter mucopolysaccharidosis type 2 ⚠
p.Tyr285Cys Single submitter ⚠
p.Tyr300Asp Single submitter mucopolysaccharidosis type 2 ⚠
p.Tyr306His Single submitter Inborn genetic diseases ⚠
p.Tyr463His Single submitter mucopolysaccharidosis type 2 ⚠
p.Tyr466Cys Single submitter ⚠
p.Val111Leu Single submitter mucopolysaccharidosis type 2 ⚠
p.Val191Ala Single submitter ⚠
p.Val223Phe Single submitter ⚠
p.Val22Ile Single submitter mucopolysaccharidosis type 2 ⚠
p.Val311Phe Single submitter mucopolysaccharidosis type 2 ⚠
p.Val353Phe Single submitter mucopolysaccharidosis type 2 ⚠
p.Val357Ala Single submitter ⚠
p.Val39Asp Single submitter mucopolysaccharidosis type 2 ⚠
p.Val39Ile Single submitter ⚠
p.Val418Ala Single submitter mucopolysaccharidosis type 2 ⚠
p.Val429Ile Single submitter mucopolysaccharidosis type 2 ⚠
p.Val44= Single submitter
p.Val503Ala Single submitter mucopolysaccharidosis type 2 ⚠
p.Val83Ala Single submitter mucopolysaccharidosis type 2 ⚠
p.Val89Gly Single submitter Inborn genetic diseases ⚠
p.Val89Ile Single submitter mucopolysaccharidosis type 2 ⚠
c.507+2T>C No assertion criteria IDS-related disorder
c.-10C>T No assertion criteria mucopolysaccharidosis type 3A
p.Ala23Thr No assertion criteria mucopolysaccharidosis type 3A ⚠
p.Arg313Ser No assertion criteria mucopolysaccharidosis type 3A ⚠
p.Asp532Val No assertion criteria mucopolysaccharidosis type 3A ⚠
p.Gln207His No assertion criteria IDS-related disorder ⚠
p.Gln465Arg No assertion criteria mucopolysaccharidosis type 3A ⚠
p.His179= No assertion criteria mucopolysaccharidosis type 3A
p.Leu11Pro No assertion criteria mucopolysaccharidosis type 3A ⚠
p.Lys479Met No assertion criteria mucopolysaccharidosis type 3A ⚠
p.Pro185Leu No assertion criteria mucopolysaccharidosis type 3A ⚠
p.Pro469Ser No assertion criteria mucopolysaccharidosis type 3A ⚠
p.Pro97Ala No assertion criteria mucopolysaccharidosis type 3A ⚠
p.Ser71Cys No assertion criteria mucopolysaccharidosis type 3A ⚠
p.Thr6Ala No assertion criteria mucopolysaccharidosis type 3A ⚠
p.Tyr151Cys No assertion criteria mucopolysaccharidosis type 3A ⚠