IDUA — 1748 ClinVar variants

All ClinVar germline IDUA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 502 flagged for review →

169 Pathogenic · 53 Pathogenic/Likely pathogenic · 170 Likely pathogenic · 75 Conflicting · 33 Benign · 11 Benign/Likely benign · 696 Likely benign · 541 Uncertain significance

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

⚑ Evidence disagreements 502

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 9

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

IDUA p.Ala75Thr Pathogenic Expert panel
mucopolysaccharidosis type 1
IDUA p.Ile270Ser Likely pathogenic Expert panel
mucopolysaccharidosis type 1
IDUA p.Leu18Pro Likely pathogenic Expert panel
mucopolysaccharidosis type 1
IDUA p.Arg492Pro Likely pathogenic Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ala75Ser Likely pathogenic Single submitter
IDUA-related disorder
IDUA p.Ala75Val Likely pathogenic Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg489Pro Likely pathogenic Single submitter
mucopolysaccharidosis type 1
IDUA p.Asn372Ser Likely pathogenic Single submitter
mucopolysaccharidosis type 1
IDUA p.Leu14Arg Likely pathogenic Single submitter
mucopolysaccharidosis type 1

Predictors agree, ClinVar conflicts 37

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

IDUA c.299+3558C>T Conflicting Single submitter
Inborn genetic diseases
IDUA c.299+988C>T Conflicting Single submitter
nephrolithiasis, calcium oxalate
IDUA p.Ala300Thr Conflicting Single submitter
IDUA-related disorders
IDUA p.Ala344Gly Conflicting Single submitter
Inborn genetic diseases
IDUA p.Ala424Val Conflicting Single submitter
Inborn genetic diseases
IDUA p.Ala591Val Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg105Trp Conflicting Single submitter
Inborn genetic diseases
IDUA p.Arg122Lys Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg363Leu Conflicting Single submitter
Hurler-Scheie syndrome
IDUA p.Arg383Cys Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Asn350Asp Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Asn373Thr Conflicting Single submitter
Inborn genetic diseases
IDUA p.Asp243Asn Conflicting Single submitter
Inborn genetic diseases
IDUA p.Asp444Asn Conflicting Single submitter
Inborn genetic diseases
IDUA p.Glu178Gln Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Gly165Asp Conflicting Single submitter
Inborn genetic diseases
IDUA p.Gly219Arg Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Gly409Arg Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Gly521Ser Conflicting Single submitter
Inborn genetic diseases
IDUA p.Gly589Ser Conflicting Single submitter
Inborn genetic diseases
IDUA p.Gly646Arg Conflicting Single submitter
Inborn genetic diseases
IDUA p.His240Asp Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.His240Gln Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.His262Tyr Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.His449Asn Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Leu365Val Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Leu4Pro Conflicting Single submitter
Inborn genetic diseases
IDUA p.Pro533Gln Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Pro594Leu Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Ser234Thr Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Ser347Arg Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Ser347Thr Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Thr179Ala Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Thr194Ser Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Trp175Arg Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Trp487Leu Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA c.299+1104G>A Conflicting No assertion criteria
Hurler syndrome

Predictors lean, ClinVar uncertain 287

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 287

IDUA p.Ala26Thr Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Arg100Gly Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Arg100Lys Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Arg363His Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Asn350Ile Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Asp115Asn Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Asp119Tyr Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Asp223Tyr Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Cys205Arg Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Cys205Gly Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Cys205Ser Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Gly265Asp Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Gly409Glu Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Leu132Pro Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Leu237Arg Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Leu421Pro Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Leu526Pro Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Lys384Asn Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Phe177Leu Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Pro183Ser Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Ser157Pro Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Ser224Pro Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Thr364Ala Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Thr364Arg Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Thr364Lys Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA c.299+1542A>T Uncertain significance Multiple submitters
hypersulfaturia
IDUA c.299+3399C>T Uncertain significance Multiple submitters
nephrolithiasis susceptibility caused by SLC26A1
IDUA p.Ala344Thr Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Ala403Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ala422Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ala424Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ala448Asp Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Arg210His Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Arg368Cys Uncertain significance Multiple submitters
IDUA p.Arg435Gly Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Arg435His Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Arg447His Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Arg502Gln Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Arg502Trp Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Arg516His Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Arg553Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Arg555His Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Arg621Gln Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Asn336Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Asn415Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Asn652Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Asp257Gly Uncertain significance Multiple submitters
Hurler-Scheie syndrome
IDUA p.Asp298Glu Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Asp35Asn Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Asp444Gly Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Gln282Leu Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Gln60Arg Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Glu545Lys Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Gly138Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Gly165Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Gly168Arg Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Gly219Glu Uncertain significance Multiple submitters
IDUA p.Gly222Cys Uncertain significance Multiple submitters
IDUA p.Gly253Asp Uncertain significance Multiple submitters
IDUA p.Gly589Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Gly78Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.His139Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.His186Arg Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.His30Gln Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ile283Thr Uncertain significance Multiple submitters
IDUA p.Leu114Met Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Leu11Val Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Leu256Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Leu334Arg Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Leu96Arg Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Met390Thr Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Pro21Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Pro22Ala Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Pro22Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Pro311Arg Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Pro311Leu Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Pro385Arg Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Pro385Ser Uncertain significance Multiple submitters
IDUA-related disorder
IDUA p.Pro450Arg Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Pro450His Uncertain significance Multiple submitters
Hurler syndrome
IDUA p.Pro483Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Pro517Arg Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Pro637Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ser67Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ser67Gly Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Thr249Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Thr446Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Thr560Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Trp306Gly Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Tyr163His Uncertain significance Multiple submitters
IDUA-related disorder
IDUA p.Tyr258Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Tyr318His Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Val172Phe Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Val371Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Val405Gly Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Val573Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Val65Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA c.299+1279C>T Uncertain significance Single submitter
nephrolithiasis susceptibility caused by SLC26A1
IDUA c.299+1627G>A Uncertain significance Single submitter
nephrolithiasis susceptibility caused by SLC26A1
IDUA c.299+2403C>A Uncertain significance Single submitter
IDUA p.Ala12Val Uncertain significance Single submitter
IDUA p.Ala15Val Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ala170Val Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ala20Val Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Ala314Thr Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ala344Pro Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ala351Val Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ala367Glu Uncertain significance Single submitter
IDUA p.Ala403Asp Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Ala403Thr Uncertain significance Single submitter
Hurler syndrome
IDUA p.Ala422Val Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ala437Pro Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ala520Pro Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ala556Thr Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ala8Ser Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ala9Gly Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg100Ser Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg105Pro Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg239Ser Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg2Pro Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg368His Uncertain significance Single submitter
IDUA p.Arg383Gly Uncertain significance Single submitter
IDUA p.Arg38Leu Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Arg38Ser Uncertain significance Single submitter
IDUA p.Arg459Leu Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg45Pro Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg461His Uncertain significance Single submitter
IDUA p.Arg48Lys Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg48Ser Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Arg492Leu Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg492Trp Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg502Pro Uncertain significance Single submitter
IDUA p.Arg523His Uncertain significance Single submitter
IDUA p.Arg523Leu Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg531Gln Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg543Ser Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg597Lys Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Arg628Leu Uncertain significance Single submitter
IDUA p.Arg83His Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Asn181Ser Uncertain significance Single submitter
IDUA p.Asn331Asp Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Asn336Asp Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Asn350Ser Uncertain significance Single submitter
Scheie syndrome
IDUA p.Asn451Asp Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Asn478Asp Uncertain significance Single submitter
IDUA p.Asp154Glu Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Asp184Gly Uncertain significance Single submitter
IDUA p.Asp184Tyr Uncertain significance Single submitter
IDUA p.Asp203His Uncertain significance Single submitter
IDUA p.Asp484Asn Uncertain significance Single submitter
Inborn genetic diseases

Predictors split 169

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 169

IDUA p.Arg619Gln Likely benign Expert panel
mucopolysaccharidosis type 1
IDUA p.Arg621Gly Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Asn73Ser Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Asp223Glu Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Cys577Tyr Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Glu182Lys Pathogenic Expert panel
mucopolysaccharidosis type 1
IDUA p.Gly253Cys Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Gly84Arg Likely pathogenic Expert panel
mucopolysaccharidosis type 1
IDUA p.Phe52Leu Likely pathogenic Expert panel
mucopolysaccharidosis type 1
IDUA p.Pro22Ser Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Pro302Thr Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Pro357Leu Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA p.Val322Leu Uncertain significance Expert panel
mucopolysaccharidosis type 1
IDUA c.299+1368C>T Uncertain significance Multiple submitters
hypersulfaturia
IDUA p.Ala556Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Arg166Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Arg217Trp Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Arg435Cys Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Arg447Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Arg45Cys Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Arg503Cys Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Arg555Cys Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Asn200Lys Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Asp119Ala Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Asp445Gly Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Asp570Val Likely pathogenic Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Cys53Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Gln370Arg Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Glu276Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Glu582Lys Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Gly549Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Gly84Ala Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Gly84Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.His416Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ile259Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ile272Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Leu155Val Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Leu237Phe Benign/Likely benign Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Met193Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Phe495Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Pro29Arg Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Pro376Leu Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Pro42Ser Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Pro464Ala Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Pro493Arg Uncertain significance Multiple submitters
Hurler syndrome
IDUA p.Pro510Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Pro55Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Pro81Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Pro81Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ser137Trp Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ser269Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ser307Phe Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Ser406Trp Uncertain significance Multiple submitters
Inborn genetic diseases
IDUA p.Ser586Phe Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Thr179Ser Uncertain significance Multiple submitters
IDUA p.Thr410Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Thr497Lys Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Tyr625Ser Likely pathogenic Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Val172Ile Uncertain significance Multiple submitters
IDUA p.Val379Met Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA p.Val551Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 1
IDUA c.299+3241C>A Uncertain significance Single submitter
IDUA p.Ala319Thr Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Ala320Thr Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ala389Thr Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Ala408Thr Uncertain significance Single submitter
IDUA p.Ala408Val Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Ala424Asp Uncertain significance Single submitter
IDUA p.Ala442Gly Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Ala455Val Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Ala622Val Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Arg210Gly Uncertain significance Single submitter
IDUA p.Arg375Cys Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg459Trp Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg461Cys Uncertain significance Single submitter
IDUA p.Arg48Gly Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg516Cys Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Arg543His Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Arg555Gly Uncertain significance Single submitter
IDUA p.Arg628Gly Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Asn190Ser Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Asn478Lys Uncertain significance Single submitter
IDUA p.Asn603Lys Uncertain significance Single submitter
IDUA p.Asp397His Uncertain significance Single submitter
IDUA p.Asp432Asn Uncertain significance Single submitter
IDUA p.Asp477Gly Uncertain significance Single submitter
IDUA p.Asp509His Uncertain significance Single submitter
IDUA p.Asp570Gly Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Asp570His Conflicting Single submitter
Scheie syndrome
IDUA p.Cys541Phe Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Gln328His Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Gln400Leu Uncertain significance Single submitter
IDUA p.Gln60Pro Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Glu178Asp Uncertain significance Single submitter
IDUA p.Glu582Ala Uncertain significance Single submitter
IDUA p.Gly101Arg Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Gly219Ala Uncertain significance Single submitter
IDUA p.Gly222Ser Uncertain significance Single submitter
IDUA p.Gly265Ala Uncertain significance Single submitter
IDUA p.Gly265Ser Uncertain significance Single submitter
IDUA p.Gly491Asp Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Gly630Ser Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Gly84Asp Uncertain significance Single submitter
IDUA p.His185Asp Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.His425Gln Uncertain significance Single submitter
IDUA p.His425Leu Uncertain significance Single submitter
IDUA p.His539Leu Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.His539Tyr Uncertain significance Single submitter
IDUA p.His82Pro Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Ile272Phe Uncertain significance Single submitter
IDUA p.Ile440Thr Uncertain significance Single submitter
IDUA p.Ile583Met Uncertain significance Single submitter
Inborn genetic diseases
IDUA p.Leu237Val Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Leu261His Uncertain significance Single submitter
IDUA p.Leu308Pro Conflicting Single submitter
Scheie syndrome
IDUA p.Leu559Arg Uncertain significance Single submitter
IDUA p.Leu56Pro Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Lys146Asn Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Met321Thr Uncertain significance Single submitter
IDUA p.Met390Val Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Phe247Leu Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Phe290Leu Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Phe352Leu Uncertain significance Single submitter
IDUA p.Phe360Leu Uncertain significance Single submitter
IDUA p.Phe501Leu Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Pro294Thr Uncertain significance Single submitter
IDUA p.Pro302Ser Uncertain significance Single submitter
IDUA p.Pro309Thr Uncertain significance Single submitter
IDUA p.Pro377Leu Uncertain significance Single submitter
Hurler-Scheie syndrome
IDUA p.Pro430Leu Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Pro464Leu Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Pro533Ser Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Pro533Thr Likely pathogenic Single submitter
mucopolysaccharidosis type 1
IDUA p.Pro558Leu Uncertain significance Single submitter
IDUA p.Pro81Ala Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ser137Leu Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ser192Cys Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ser231Phe Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ser269Tyr Uncertain significance Single submitter
IDUA p.Ser443Asn Uncertain significance Single submitter
IDUA p.Ser453Asn Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Ser453Cys Uncertain significance Single submitter
IDUA p.Ser600Trp Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Thr245Ile Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Thr317Ile Uncertain significance Single submitter
mucopolysaccharidosis type 1
IDUA p.Thr388Met Conflicting Single submitter
mucopolysaccharidosis type 1
IDUA p.Thr552Met Uncertain significance Single submitter
Hurler-Scheie syndrome
IDUA p.Trp434Cys Uncertain significance Single submitter
IDUA p.Tyr471Cys Uncertain significance Single submitter
IDUA p.Tyr625Asp Likely pathogenic Single submitter
Hurler syndrome

All IDUA variants

Pathogenic 169

c.1190-1G>A Expert panel mucopolysaccharidosis type 1
c.1403-1G>T Expert panel mucopolysaccharidosis type 1
c.1650+5G>A Expert panel mucopolysaccharidosis type 1
c.1727+1G>A Expert panel mucopolysaccharidosis type 1
c.1727+2T>G Expert panel mucopolysaccharidosis type 1
c.1727+4C>T Expert panel mucopolysaccharidosis type 1
c.1728-1G>C Expert panel mucopolysaccharidosis type 1
c.300-3C>G Expert panel mucopolysaccharidosis type 1
c.385+1G>A Expert panel mucopolysaccharidosis type 1
c.385+1G>C Expert panel mucopolysaccharidosis type 1
c.386-1G>A Expert panel mucopolysaccharidosis type 1
c.386-2A>G Expert panel mucopolysaccharidosis type 1
c.590-7G>A Expert panel mucopolysaccharidosis type 1
c.792+1G>C Expert panel mucopolysaccharidosis type 1
c.792+1G>T Expert panel mucopolysaccharidosis type 1
c.972+1G>A Expert panel mucopolysaccharidosis type 1
c.972+2T>C Expert panel mucopolysaccharidosis type 1
p.Ala75Thr Expert panel mucopolysaccharidosis type 1 ⚠
p.Ala79Val Expert panel mucopolysaccharidosis type 1
p.Arg383fs Expert panel mucopolysaccharidosis type 1
p.Arg383His Expert panel mucopolysaccharidosis type 1
p.Arg531fs Expert panel mucopolysaccharidosis type 1
p.Arg619Ter Expert panel mucopolysaccharidosis type 1
p.Arg621Ter Expert panel mucopolysaccharidosis type 1
p.Arg628Ter Expert panel mucopolysaccharidosis type 1
p.Arg89Gln Expert panel mucopolysaccharidosis type 1
p.Asp292fs Expert panel mucopolysaccharidosis type 1
p.Asp349del Expert panel mucopolysaccharidosis type 1
p.Cys53Ter Expert panel mucopolysaccharidosis type 1
p.Gln380Arg Expert panel mucopolysaccharidosis type 1
p.Gln400Ter Expert panel mucopolysaccharidosis type 1
p.Gln584Ter Expert panel mucopolysaccharidosis type 1
p.Gln60Ter Expert panel mucopolysaccharidosis type 1
p.Gln63Ter Expert panel mucopolysaccharidosis type 1
p.Gln70Ter Expert panel mucopolysaccharidosis type 1
p.Glu182Lys Expert panel mucopolysaccharidosis type 1 ⚠
p.Glu207fs Expert panel mucopolysaccharidosis type 1
p.Glu274Ter Expert panel mucopolysaccharidosis type 1
p.Glu299Ter Expert panel mucopolysaccharidosis type 1
p.Gly208Asp Expert panel mucopolysaccharidosis type 1
p.Gly51Asp Expert panel mucopolysaccharidosis type 1
p.His539fs Expert panel mucopolysaccharidosis type 1
p.Ile295fs Expert panel mucopolysaccharidosis type 1
p.Leu218Pro Expert panel mucopolysaccharidosis type 1
p.Leu238Gln Expert panel mucopolysaccharidosis type 1
p.Leu346Arg Expert panel mucopolysaccharidosis type 1
p.Leu530fs Expert panel mucopolysaccharidosis type 1
p.Leu532fs Expert panel mucopolysaccharidosis type 1
p.Lys153Ter Expert panel mucopolysaccharidosis type 1
p.Met1Ile Expert panel mucopolysaccharidosis type 1
p.Met1Leu Expert panel mucopolysaccharidosis type 1
p.Met1Thr Expert panel mucopolysaccharidosis type 1
p.Met1Val Expert panel mucopolysaccharidosis type 1
p.Pro533Arg Expert panel mucopolysaccharidosis type 1
p.Ser16_Ala19del Expert panel mucopolysaccharidosis type 1
p.Ser633Leu Expert panel mucopolysaccharidosis type 1
p.Ter654Arg Expert panel mucopolysaccharidosis type 1
p.Thr179Arg Expert panel mucopolysaccharidosis type 1
p.Thr364Met Expert panel mucopolysaccharidosis type 1
p.Thr388fs Expert panel mucopolysaccharidosis type 1
p.Trp180_Glu182delinsTer Expert panel mucopolysaccharidosis type 1
p.Trp180Ter Expert panel mucopolysaccharidosis type 1
p.Trp402Ter Expert panel mucopolysaccharidosis type 1
p.Trp41Ter Expert panel mucopolysaccharidosis type 1
p.Tyr117fs Expert panel mucopolysaccharidosis type 1
p.Tyr167Ter Expert panel mucopolysaccharidosis type 1
p.Tyr201Ter Expert panel mucopolysaccharidosis type 1
p.Tyr343Ter Expert panel mucopolysaccharidosis type 1
c.158+1G>A Multiple submitters mucopolysaccharidosis type 1
c.1728-1G>A Multiple submitters Hurler syndrome
c.299+1G>C Multiple submitters mucopolysaccharidosis type 1
p.Arg516fs Multiple submitters mucopolysaccharidosis type 1
p.Arg89Trp Multiple submitters mucopolysaccharidosis type 1
p.Asn190fs Multiple submitters mucopolysaccharidosis type 1
p.Asp301Glu Multiple submitters mucopolysaccharidosis type 1
p.Gln587Ter Multiple submitters Hurler syndrome
p.Glu404Ter Multiple submitters mucopolysaccharidosis type 1
p.Glu486Ter Multiple submitters mucopolysaccharidosis type 1
p.Glu499fs Multiple submitters mucopolysaccharidosis type 1
p.Gly589fs Multiple submitters mucopolysaccharidosis type 1
p.His262fs Multiple submitters mucopolysaccharidosis type 1
p.Leu56fs Multiple submitters Hurler-Scheie syndrome
p.Pro55fs Multiple submitters Hurler syndrome
p.Trp47Ter Multiple submitters mucopolysaccharidosis type 1
p.Trp68Ter Multiple submitters mucopolysaccharidosis type 1
p.Tyr475fs Multiple submitters mucopolysaccharidosis type 1
p.Tyr64Ter Multiple submitters mucopolysaccharidosis type 1
p.Val322fs Multiple submitters mucopolysaccharidosis type 1
c.1190-10_*10del Single submitter mucopolysaccharidosis type 1
c.1190-2A>C Single submitter mucopolysaccharidosis type 1
c.1190-2A>G Single submitter mucopolysaccharidosis type 1
c.1402+1G>C Single submitter
c.1403-1G>A Single submitter mucopolysaccharidosis type 1
c.1524+1G>C Single submitter mucopolysaccharidosis type 1
c.1524+1G>T Single submitter mucopolysaccharidosis type 1
c.1727+2T>A Single submitter mucopolysaccharidosis type 1
c.493+1G>T Single submitter mucopolysaccharidosis type 1
c.494-1G>C Single submitter
c.494-57G>A Single submitter Hurler syndrome
c.590-1G>A Single submitter mucopolysaccharidosis type 1
c.590-2A>G Single submitter mucopolysaccharidosis type 1
c.793-2A>G Single submitter mucopolysaccharidosis type 1
p.Ala12fs Single submitter Scheie syndrome
p.Ala422fs Single submitter Hurler-Scheie syndrome
p.Ala436fs Single submitter mucopolysaccharidosis type 1
p.Ala448fs Single submitter
p.Ala498fs Single submitter mucopolysaccharidosis type 1
p.Ala520_Gly521insTer Single submitter mucopolysaccharidosis type 1
p.Arg105fs Single submitter mucopolysaccharidosis type 1
p.Arg210fs Single submitter Hurler syndrome
p.Arg45fs Single submitter mucopolysaccharidosis type 1
p.Arg628fs Single submitter mucopolysaccharidosis type 1
p.Arg7fs Single submitter mucopolysaccharidosis type 1
p.Asn350fs Single submitter mucopolysaccharidosis type 1
p.Asp142fs Single submitter mucopolysaccharidosis type 1
p.Asp397fs Single submitter Hurler syndrome
p.Asp444fs Single submitter mucopolysaccharidosis type 1
p.Asp445del Single submitter mucopolysaccharidosis type 1
p.Cys205fs Single submitter mucopolysaccharidosis type 1
p.Cys241Arg Single submitter mucopolysaccharidosis type 1
p.Cys241Ter Single submitter mucopolysaccharidosis type 1
p.Gln196fs Single submitter mucopolysaccharidosis type 1
p.Gln196Ter Single submitter mucopolysaccharidosis type 1
p.Gln285fs Single submitter mucopolysaccharidosis type 1
p.Gln362Ter Single submitter
p.Gln370Ter Single submitter mucopolysaccharidosis type 1
p.Gln380fs Single submitter mucopolysaccharidosis type 1
p.Gln428fs Single submitter mucopolysaccharidosis type 1
p.Gln500Ter Single submitter mucopolysaccharidosis type 1
p.Gln550Ter Single submitter mucopolysaccharidosis type 1
p.Gln561Ter Single submitter mucopolysaccharidosis type 1
p.Gln70delinsHisThrGlnProGlyTer Single submitter mucopolysaccharidosis type 1
p.Glu571fs Single submitter mucopolysaccharidosis type 1
p.Gly549fs Single submitter mucopolysaccharidosis type 1
p.His33fs Single submitter mucopolysaccharidosis type 1
p.His58fs Single submitter Hurler syndrome
p.His82fs Single submitter mucopolysaccharidosis type 1
p.Ile440fs Single submitter mucopolysaccharidosis type 1
p.Leu169fs Single submitter mucopolysaccharidosis type 1
p.Leu216fs Single submitter mucopolysaccharidosis type 1
p.Leu345_Leu346insTer Single submitter mucopolysaccharidosis type 1
p.Leu381fs Single submitter Hurler syndrome
p.Leu460Pro Single submitter Hurler syndrome
p.Lys289fs Single submitter mucopolysaccharidosis type 1
p.Met1_Leu4del Single submitter mucopolysaccharidosis type 1
p.Met1fs Single submitter mucopolysaccharidosis type 1
p.Met390fs Single submitter mucopolysaccharidosis type 1
p.Phe177Cys Single submitter Hurler syndrome
p.Phe360fs Single submitter mucopolysaccharidosis type 1
p.Pro302fs Single submitter mucopolysaccharidosis type 1
p.Pro533fs Single submitter Interstitial pneumonitis
p.Ser135fs Single submitter mucopolysaccharidosis type 1
p.Ser192_Met193insTer Single submitter mucopolysaccharidosis type 1
p.Ser59fs Single submitter mucopolysaccharidosis type 1
p.Thr337fs Single submitter mucopolysaccharidosis type 1
p.Thr364fs Single submitter mucopolysaccharidosis type 1
p.Trp175_Glu178del Single submitter mucopolysaccharidosis type 1
p.Trp312Ter Single submitter mucopolysaccharidosis type 1
p.Trp579Ter Single submitter mucopolysaccharidosis type 1
p.Tyr258Ter Single submitter mucopolysaccharidosis type 1
p.Tyr318Ter Single submitter mucopolysaccharidosis type 1
p.Tyr475del Single submitter mucopolysaccharidosis type 1
p.Tyr581Ter Single submitter Hurler-Scheie syndrome
p.Tyr618Ter Single submitter mucopolysaccharidosis type 1
p.Val304fs Single submitter mucopolysaccharidosis type 1
p.Val511fs Single submitter mucopolysaccharidosis type 1
p.Val88fs Single submitter Hurler syndrome
p.Ser206fs No assertion criteria Hurler syndrome
p.Thr366Pro No assertion criteria Hurler syndrome

Pathogenic/Likely pathogenic 53

c.1190-1del Multiple submitters Scheie syndrome
c.1190-2A>T Multiple submitters Scheie syndrome
c.1524+1G>A Multiple submitters mucopolysaccharidosis type 1
c.1525-11_1536del Multiple submitters mucopolysaccharidosis type 1
c.1728-2A>G Multiple submitters mucopolysaccharidosis type 1
c.1828+1G>A Multiple submitters mucopolysaccharidosis type 1
c.1828+1G>C Multiple submitters mucopolysaccharidosis type 1
c.299_299+1delinsAT Multiple submitters mucopolysaccharidosis type 1
c.299+1G>T Multiple submitters mucopolysaccharidosis type 1
c.494-2A>C Multiple submitters mucopolysaccharidosis type 1
c.793-1G>A Multiple submitters mucopolysaccharidosis type 1
p.Ala211fs Multiple submitters mucopolysaccharidosis type 1
p.Ala327Pro Multiple submitters IDUA-related disorders
p.Ala367Pro Multiple submitters mucopolysaccharidosis type 1
p.Arg619Gly Multiple submitters mucopolysaccharidosis type 1
p.Arg621Pro Multiple submitters Hurler syndrome
p.Arg89Gly Multiple submitters mucopolysaccharidosis type 1
p.Asn181fs Multiple submitters mucopolysaccharidosis type 1
p.Asp203Asn Multiple submitters mucopolysaccharidosis type 1
p.Asp301His Multiple submitters mucopolysaccharidosis type 1
p.Asp349Asn Multiple submitters mucopolysaccharidosis type 1
p.Asp349Tyr Multiple submitters Scheie syndrome
p.Cys205Ter Multiple submitters mucopolysaccharidosis type 1
p.Cys541Ter Multiple submitters mucopolysaccharidosis type 1
p.Gln70fs Multiple submitters mucopolysaccharidosis type 1
p.Gln87fs Multiple submitters mucopolysaccharidosis type 1
p.Glu123Ter Multiple submitters mucopolysaccharidosis type 1
p.Glu178Lys Multiple submitters Hurler-Scheie syndrome
p.Gly466fs Multiple submitters Hurler syndrome
p.His240Arg Multiple submitters mucopolysaccharidosis type 1
p.His30fs Multiple submitters mucopolysaccharidosis type 1
p.His425fs Multiple submitters mucopolysaccharidosis type 1
p.Leu490Pro Multiple submitters mucopolysaccharidosis type 1
p.Leu535fs Multiple submitters mucopolysaccharidosis type 1
p.Leu566fs Multiple submitters mucopolysaccharidosis type 1
p.Leu623Pro Multiple submitters Hurler syndrome
p.Met133_Gly134del Multiple submitters mucopolysaccharidosis type 1
p.Phe632fs Multiple submitters mucopolysaccharidosis type 1
p.Pro342fs Multiple submitters mucopolysaccharidosis type 1
p.Pro533Leu Multiple submitters mucopolysaccharidosis type 1
p.Ser16Ter Multiple submitters mucopolysaccharidosis type 1
p.Ser423Arg Multiple submitters mucopolysaccharidosis type 1
p.Ser600Ter Multiple submitters mucopolysaccharidosis type 1
p.Thr103fs Multiple submitters mucopolysaccharidosis type 1
p.Thr293_Tyr296dup Multiple submitters Scheie syndrome
p.Thr366fs Multiple submitters Hurler syndrome
p.Thr410fs Multiple submitters mucopolysaccharidosis type 1
p.Trp175Ter Multiple submitters mucopolysaccharidosis type 1
p.Tyr202Ter Multiple submitters mucopolysaccharidosis type 1
p.Tyr618_Arg619delinsTer Multiple submitters Hurler syndrome
p.Tyr64fs Multiple submitters mucopolysaccharidosis type 1
p.Val606fs Multiple submitters mucopolysaccharidosis type 1
p.Val620Phe Multiple submitters mucopolysaccharidosis type 1

Likely pathogenic 170

c.1190-10C>A Expert panel mucopolysaccharidosis type 1
c.1402+1G>A Expert panel mucopolysaccharidosis type 1
c.1402+1G>T Expert panel mucopolysaccharidosis type 1
c.1402+2T>G Expert panel mucopolysaccharidosis type 1
c.1650+1G>T Expert panel mucopolysaccharidosis type 1
c.494-1G>A Expert panel mucopolysaccharidosis type 1
p.Ala319Val Expert panel mucopolysaccharidosis type 1
p.Ala361fs Expert panel mucopolysaccharidosis type 1
p.Arg363Cys Expert panel mucopolysaccharidosis type 1
p.Arg48del Expert panel mucopolysaccharidosis type 1
p.Arg628Pro Expert panel mucopolysaccharidosis type 1
p.Asn348Lys Expert panel mucopolysaccharidosis type 1
p.Asp315Tyr Expert panel mucopolysaccharidosis type 1
p.Asp349Gly Expert panel mucopolysaccharidosis type 1
p.Asp349His Expert panel mucopolysaccharidosis type 1
p.Cys205Tyr Expert panel mucopolysaccharidosis type 1
p.Gln147Ter Expert panel mucopolysaccharidosis type 1
p.Gln310Ter Expert panel mucopolysaccharidosis type 1
p.Gln500Arg Expert panel mucopolysaccharidosis type 1
p.Glu276Lys Expert panel mucopolysaccharidosis type 1
p.Gly197Asp Expert panel mucopolysaccharidosis type 1
p.Gly197Ser Expert panel mucopolysaccharidosis type 1
p.Gly265Arg Expert panel mucopolysaccharidosis type 1
p.Gly84Arg Expert panel mucopolysaccharidosis type 1 ⚠
p.His358_Thr364del Expert panel mucopolysaccharidosis type 1
p.Ile270Ser Expert panel mucopolysaccharidosis type 1 ⚠
p.Leu18Pro Expert panel mucopolysaccharidosis type 1 ⚠
p.Leu238Arg Expert panel mucopolysaccharidosis type 1
p.Phe177Ser Expert panel mucopolysaccharidosis type 1
p.Phe52Leu Expert panel mucopolysaccharidosis type 1 ⚠
p.Pro496Arg Expert panel mucopolysaccharidosis type 1
p.Pro496Leu Expert panel mucopolysaccharidosis type 1
p.Pro548fs Expert panel mucopolysaccharidosis type 1
p.Pro599_Ser600insTer Expert panel mucopolysaccharidosis type 1
p.Ser414fs Expert panel mucopolysaccharidosis type 1
p.Ser534fs Expert panel mucopolysaccharidosis type 1
p.Ser633Ter Expert panel mucopolysaccharidosis type 1
p.Ser633Trp Expert panel mucopolysaccharidosis type 1
p.Ter654Cys Expert panel mucopolysaccharidosis type 1
p.Ter654Gly Expert panel mucopolysaccharidosis type 1
p.Thr179Met Expert panel mucopolysaccharidosis type 1
p.Thr388Arg Expert panel mucopolysaccharidosis type 1
p.Thr388Lys Expert panel mucopolysaccharidosis type 1
p.Thr417_His425del Expert panel mucopolysaccharidosis type 1
p.Trp152Ter Expert panel mucopolysaccharidosis type 1
p.Trp180Ser Expert panel mucopolysaccharidosis type 1
p.Tyr296_Asp298dup Expert panel mucopolysaccharidosis type 1
p.Tyr343fs Expert panel mucopolysaccharidosis type 1
p.Tyr441Ter Expert panel mucopolysaccharidosis type 1
c.1189+5G>A Multiple submitters mucopolysaccharidosis type 1
c.1525-2A>C Multiple submitters mucopolysaccharidosis type 1
c.1723_1727+4del Multiple submitters mucopolysaccharidosis type 1
c.1727+2del Multiple submitters mucopolysaccharidosis type 1
c.1827_1828+4delinsTGTGT Multiple submitters Hurler syndrome
c.1829-1G>A Multiple submitters IDUA-related disorders
c.589+1G>A Multiple submitters mucopolysaccharidosis type 1
p.Ala319Glu Multiple submitters Hurler syndrome
p.Arg492Pro Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Arg505Gly Multiple submitters mucopolysaccharidosis type 1
p.Asp570Val Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Cys205_Ala212delinsTer Multiple submitters Hurler-Scheie syndrome
p.Gly208Val Multiple submitters Hurler-Scheie syndrome
p.Ser260Phe Multiple submitters mucopolysaccharidosis type 1
p.Tyr625Ser Multiple submitters mucopolysaccharidosis type 1 ⚠
c.1189+1G>T Single submitter
c.1525-1G>A Single submitter mucopolysaccharidosis type 1
c.1525-1G>C Single submitter mucopolysaccharidosis type 1
c.158+1G>C Single submitter
c.159-1G>A Single submitter mucopolysaccharidosis type 1
c.159-2A>C Single submitter mucopolysaccharidosis type 1
c.159-2A>G Single submitter mucopolysaccharidosis type 1
c.1651-2A>G Single submitter mucopolysaccharidosis type 1
c.1727+3G>C Single submitter mucopolysaccharidosis type 1
c.1727+6T>A Single submitter mucopolysaccharidosis type 1
c.1829-1G>C Single submitter mucopolysaccharidosis type 1
c.1829-2A>G Single submitter mucopolysaccharidosis type 1
c.299+1G>A Single submitter Hurler-Scheie syndrome
c.300-7_306del Single submitter mucopolysaccharidosis type 1
c.492_493+99del Single submitter mucopolysaccharidosis type 1
c.493+1G>A Single submitter mucopolysaccharidosis type 1
c.494-2A>G Single submitter Hurler-Scheie syndrome
c.589+1G>T Single submitter Hurler syndrome
c.792+2T>C Single submitter mucopolysaccharidosis type 1
c.793-1G>T Single submitter mucopolysaccharidosis type 1
c.793-2A>C Single submitter mucopolysaccharidosis type 1
c.793-9_799del Single submitter mucopolysaccharidosis type 1
c.973-2A>G Single submitter mucopolysaccharidosis type 1
p.Ala15fs Single submitter Hurler-Scheie syndrome
p.Ala389fs Single submitter mucopolysaccharidosis type 1
p.Ala75Ser Single submitter IDUA-related disorder ⚠
p.Ala75Val Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala9fs Single submitter Hurler-Scheie syndrome
p.Arg363Ser Single submitter mucopolysaccharidosis type 1
p.Arg447fs Single submitter
p.Arg44fs Single submitter mucopolysaccharidosis type 1
p.Arg489Pro Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg543fs Single submitter
p.Arg89Pro Single submitter mucopolysaccharidosis type 1
p.Asn200fs Single submitter Hurler-Scheie syndrome
p.Asn372Ser Single submitter mucopolysaccharidosis type 1 ⚠
p.Asn373fs Single submitter Hurler-Scheie syndrome
p.Asp119fs Single submitter Hurler-Scheie syndrome
p.Asp203Gly Single submitter mucopolysaccharidosis type 1
p.Asp203Tyr Single submitter mucopolysaccharidosis type 1
p.Cys205Trp Single submitter mucopolysaccharidosis type 1
p.Cys53fs Single submitter mucopolysaccharidosis type 1
p.Gln125Ter Single submitter Hurler syndrome
p.Gln362fs Single submitter
p.Gln407fs Single submitter
p.Gln407Ter Single submitter Hurler-Scheie syndrome
p.Gln428Ter Single submitter mucopolysaccharidosis type 1
p.Gln550fs Single submitter Hurler-Scheie syndrome
p.Glu151fs Single submitter Hurler-Scheie syndrome
p.Glu182Asp Single submitter mucopolysaccharidosis type 1
p.Glu251fs Single submitter Hurler-Scheie syndrome
p.Glu545fs Single submitter
p.Gly168Val Single submitter mucopolysaccharidosis type 1
p.Gly208Ala Single submitter mucopolysaccharidosis type 1
p.Gly222fs Single submitter Hurler-Scheie syndrome
p.Gly51fs Single submitter Scheie syndrome
p.Gly630Asp Single submitter Hurler syndrome
p.His171fs Single submitter mucopolysaccharidosis type 1
p.His185Pro Single submitter
p.His91fs Single submitter Hurler syndrome
p.Leu14Arg Single submitter mucopolysaccharidosis type 1 ⚠
p.Leu238Pro Single submitter mucopolysaccharidosis type 1
p.Leu382Ter Single submitter Hurler-Scheie syndrome
p.Leu396_Asp397insAlaLeuLeu Single submitter mucopolysaccharidosis type 1
p.Leu40fs Single submitter Scheie syndrome
p.Leu458Pro Single submitter mucopolysaccharidosis type 1
p.Leu460fs Single submitter Hurler-Scheie syndrome
p.Leu518fs Single submitter Hurler-Scheie syndrome
p.Lys146_Val149del Single submitter Hurler syndrome
p.Lys174Ter Single submitter Hurler-Scheie syndrome
p.Lys86Ter Single submitter Hurler-Scheie syndrome
p.Met193fs Single submitter mucopolysaccharidosis type 1
p.Phe130fs Single submitter Hurler syndrome
p.Phe198_Leu199insTer Single submitter mucopolysaccharidosis type 1
p.Phe290Ser Single submitter
p.Pro183Arg Single submitter mucopolysaccharidosis type 1
p.Pro22fs Single submitter mucopolysaccharidosis type 1
p.Pro302Arg Single submitter mucopolysaccharidosis type 1
p.Pro3fs Single submitter Scheie syndrome
p.Pro467fs Single submitter
p.Pro510Arg Single submitter
p.Pro533Thr Single submitter mucopolysaccharidosis type 1 ⚠
p.Ser102fs Single submitter mucopolysaccharidosis type 1
p.Ser206Ter Single submitter Hurler-Scheie syndrome
p.Ser339delinsMetAlaAlaTer Single submitter Hurler-Scheie syndrome
p.Ser633fs Single submitter mucopolysaccharidosis type 1
p.Thr179Lys Single submitter mucopolysaccharidosis type 1
p.Thr227fs Single submitter Hurler-Scheie syndrome
p.Thr364Ser Single submitter mucopolysaccharidosis type 1
p.Trp152Arg Single submitter
p.Trp180Cys Single submitter mucopolysaccharidosis type 1
p.Trp487Ter Single submitter Hurler-Scheie syndrome
p.Trp92Ter Single submitter Hurler-Scheie syndrome
p.Tyr296Ter Single submitter
p.Tyr625Asp Single submitter Hurler syndrome ⚠
p.Val156fs Single submitter
p.Val32fs Single submitter Scheie syndrome
p.Val494fs Single submitter Hurler-Scheie syndrome
c.1650+1G>A No assertion criteria Hurler syndrome
c.1650+2C>G No assertion criteria Hurler syndrome
c.300-1G>A No assertion criteria Hurler syndrome
p.Gly616fs No assertion criteria Hurler syndrome
p.Leu121Pro No assertion criteria Hurler syndrome
p.Leu623fs No assertion criteria Hurler syndrome
p.Thr611fs No assertion criteria Hurler syndrome
p.Tyr163Ter No assertion criteria Hurler syndrome

Conflicting classifications of pathogenicity 75

c.1402+8G>A Single submitter mucopolysaccharidosis type 1
c.1403-6C>G Single submitter mucopolysaccharidosis type 1
c.1525-3dup Single submitter mucopolysaccharidosis type 1
c.1525-7C>A Single submitter mucopolysaccharidosis type 1
c.159-19_160del Single submitter mucopolysaccharidosis type 1
c.1650+12T>C Single submitter mucopolysaccharidosis type 1
c.1651-7C>A Single submitter mucopolysaccharidosis type 1
c.1727+5G>A Single submitter Hurler-Scheie syndrome
c.1727+9G>T Single submitter mucopolysaccharidosis type 1
c.1728-9C>T Single submitter mucopolysaccharidosis type 1
c.299+3558C>T Single submitter Inborn genetic diseases ⚠
c.299+8G>A Single submitter mucopolysaccharidosis type 1
c.299+988C>T Single submitter nephrolithiasis, calcium oxalate ⚠
c.590-8C>G Single submitter mucopolysaccharidosis type 1
c.793-9C>T Single submitter mucopolysaccharidosis type 1
p.Ala300= Single submitter mucopolysaccharidosis type 1
p.Ala300Thr Single submitter IDUA-related disorders ⚠
p.Ala319Thr Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala344Gly Single submitter Inborn genetic diseases ⚠
p.Ala351= Single submitter mucopolysaccharidosis type 1
p.Ala424Val Single submitter Inborn genetic diseases ⚠
p.Ala591Val Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg105Trp Single submitter Inborn genetic diseases ⚠
p.Arg122Lys Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg363Leu Single submitter Hurler-Scheie syndrome ⚠
p.Arg383Cys Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg83= Single submitter mucopolysaccharidosis type 1
p.Asn350Asp Single submitter mucopolysaccharidosis type 1 ⚠
p.Asn373Thr Single submitter Inborn genetic diseases ⚠
p.Asp243Asn Single submitter Inborn genetic diseases ⚠
p.Asp315= Single submitter mucopolysaccharidosis type 1
p.Asp444Asn Single submitter Inborn genetic diseases ⚠
p.Asp570Gly Single submitter mucopolysaccharidosis type 1 ⚠
p.Asp570His Single submitter Scheie syndrome ⚠
p.Cys53= Single submitter mucopolysaccharidosis type 1
p.Cys541Phe Single submitter mucopolysaccharidosis type 1 ⚠
p.Glu178Gln Single submitter mucopolysaccharidosis type 1 ⚠
p.Gly165Asp Single submitter Inborn genetic diseases ⚠
p.Gly219Arg Single submitter mucopolysaccharidosis type 1 ⚠
p.Gly409Arg Single submitter mucopolysaccharidosis type 1 ⚠
p.Gly521Ser Single submitter Inborn genetic diseases ⚠
p.Gly589Ser Single submitter Inborn genetic diseases ⚠
p.Gly646Arg Single submitter Inborn genetic diseases ⚠
p.His240Asp Single submitter mucopolysaccharidosis type 1 ⚠
p.His240Gln Single submitter mucopolysaccharidosis type 1 ⚠
p.His262Tyr Single submitter mucopolysaccharidosis type 1 ⚠
p.His449Asn Single submitter mucopolysaccharidosis type 1 ⚠
p.His82Pro Single submitter mucopolysaccharidosis type 1 ⚠
p.Leu10= Single submitter mucopolysaccharidosis type 1
p.Leu308Pro Single submitter Scheie syndrome ⚠
p.Leu334= Single submitter mucopolysaccharidosis type 1
p.Leu365Val Single submitter mucopolysaccharidosis type 1 ⚠
p.Leu4Pro Single submitter Inborn genetic diseases ⚠
p.Pro533Gln Single submitter mucopolysaccharidosis type 1 ⚠
p.Pro533Ser Single submitter mucopolysaccharidosis type 1 ⚠
p.Pro594Leu Single submitter mucopolysaccharidosis type 1 ⚠
p.Pro650fs Single submitter Hurler-Scheie syndrome
p.Ser206= Single submitter Inborn genetic diseases
p.Ser234Thr Single submitter mucopolysaccharidosis type 1 ⚠
p.Ser347Arg Single submitter mucopolysaccharidosis type 1 ⚠
p.Ser347Thr Single submitter mucopolysaccharidosis type 1 ⚠
p.Ser600= Single submitter mucopolysaccharidosis type 1
p.Thr179Ala Single submitter mucopolysaccharidosis type 1 ⚠
p.Thr194Ser Single submitter mucopolysaccharidosis type 1 ⚠
p.Thr388Met Single submitter mucopolysaccharidosis type 1 ⚠
p.Trp175Arg Single submitter mucopolysaccharidosis type 1 ⚠
p.Trp487Leu Single submitter mucopolysaccharidosis type 1 ⚠
p.Tyr109_Asn110del Single submitter mucopolysaccharidosis type 1
p.Tyr625Cys Single submitter mucopolysaccharidosis type 1 ⚠
p.Tyr638Ter Single submitter
p.Tyr76Cys Single submitter mucopolysaccharidosis type 1 ⚠
p.Val636fs Single submitter mucopolysaccharidosis type 1
p.Val80= Single submitter mucopolysaccharidosis type 1
c.299+1104G>A No assertion criteria Hurler syndrome ⚠
c.299+3322C>T No assertion criteria Hurler syndrome ⚠

Benign 33

c.1190-10dup Expert panel mucopolysaccharidosis type 1
c.299+6C>T Expert panel mucopolysaccharidosis type 1
c.590-8C>T Expert panel mucopolysaccharidosis type 1
p.Ala20= Expert panel mucopolysaccharidosis type 1
p.Ala361Thr Expert panel mucopolysaccharidosis type 1
p.Ala8= Expert panel mucopolysaccharidosis type 1
p.Arg105Gln Expert panel mucopolysaccharidosis type 1
p.Asn181= Expert panel mucopolysaccharidosis type 1
p.Asn297= Expert panel mucopolysaccharidosis type 1
p.Thr99Ile Expert panel mucopolysaccharidosis type 1
p.Val454Ile Expert panel mucopolysaccharidosis type 1
c.1190-10del Multiple submitters mucopolysaccharidosis type 1
c.1402+36T>C Multiple submitters Hurler-Scheie syndrome
c.1403-14G>T Multiple submitters mucopolysaccharidosis type 1
c.1524+41G>T Multiple submitters mucopolysaccharidosis type 1
c.1524+53G>T Multiple submitters
c.1525-38T>C Multiple submitters Hurler-Scheie syndrome
c.1727+72T>G Multiple submitters Hurler syndrome
c.1727+75G>T Multiple submitters mucopolysaccharidosis type 1
c.299+3990A>G Multiple submitters Hurler-Scheie syndrome
c.300-44C>T Multiple submitters mucopolysaccharidosis type 1
c.493+205G>A Multiple submitters
c.590-45G>C Multiple submitters Hurler-Scheie syndrome
c.972+48A>G Multiple submitters Hurler-Scheie syndrome
c.973-45G>C Multiple submitters Scheie syndrome
c.1727+21del Single submitter mucopolysaccharidosis type 1
c.300-246C>T Single submitter
c.494-149C>G Single submitter
c.494-198_494-179del Single submitter
c.589+20dup Single submitter mucopolysaccharidosis type 1
c.590-8del Single submitter mucopolysaccharidosis type 1
c.590-8dup Single submitter mucopolysaccharidosis type 1
p.His33Gln Single submitter mucopolysaccharidosis type 1

Benign/Likely benign 11

c.1190-11_1190-10dup Multiple submitters mucopolysaccharidosis type 1
c.1190-17_1190-16insA Multiple submitters mucopolysaccharidosis type 1
c.1190-19G>C Multiple submitters mucopolysaccharidosis type 1
c.299+3632G>C Multiple submitters
c.299+7G>A Multiple submitters mucopolysaccharidosis type 1
p.Gly78= Multiple submitters Inborn genetic diseases
p.Leu237Phe Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Leu392= Multiple submitters mucopolysaccharidosis type 1
p.Pro493= Multiple submitters mucopolysaccharidosis type 1
p.Pro528Ala Multiple submitters mucopolysaccharidosis type 1
p.Ser135= Multiple submitters mucopolysaccharidosis type 1

Likely benign 696

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

c.1651-10C>T Expert panel mucopolysaccharidosis type 1
c.1727+32T>A Expert panel mucopolysaccharidosis type 1
c.493+10C>T Expert panel mucopolysaccharidosis type 1
p.Arg210= Expert panel mucopolysaccharidosis type 1
p.Arg619Gln Expert panel mucopolysaccharidosis type 1 ⚠
c.1190-4G>A Multiple submitters mucopolysaccharidosis type 1
c.1403-9G>T Multiple submitters mucopolysaccharidosis type 1
c.1525-16C>T Multiple submitters mucopolysaccharidosis type 1
c.1525-6G>A Multiple submitters mucopolysaccharidosis type 1
c.159-19G>A Multiple submitters mucopolysaccharidosis type 1
c.299+10G>A Multiple submitters mucopolysaccharidosis type 1
c.300-20C>T Multiple submitters mucopolysaccharidosis type 1
c.385+11G>C Multiple submitters mucopolysaccharidosis type 1
c.385+19C>T Multiple submitters mucopolysaccharidosis type 1
c.386-14del Multiple submitters mucopolysaccharidosis type 1
c.493+123T>G Multiple submitters
c.493+7G>A Multiple submitters mucopolysaccharidosis type 1
c.792+10G>A Multiple submitters mucopolysaccharidosis type 1
c.792+7C>A Multiple submitters mucopolysaccharidosis type 1
c.793-4G>T Multiple submitters mucopolysaccharidosis type 1
p.Ala437= Multiple submitters mucopolysaccharidosis type 1
p.Ala79= Multiple submitters mucopolysaccharidosis type 1
p.Arg255= Multiple submitters Inborn genetic diseases
p.Arg313= Multiple submitters mucopolysaccharidosis type 1
p.Arg368= Multiple submitters Inborn genetic diseases
p.Arg44= Multiple submitters mucopolysaccharidosis type 1
p.Arg488= Multiple submitters mucopolysaccharidosis type 1
p.Arg503= Multiple submitters mucopolysaccharidosis type 1
p.Asn350= Multiple submitters mucopolysaccharidosis type 1
p.Asp119= Multiple submitters mucopolysaccharidosis type 1
p.Asp203= Multiple submitters mucopolysaccharidosis type 1
p.Asp298= Multiple submitters Inborn genetic diseases
p.Gln561= Multiple submitters mucopolysaccharidosis type 1
p.Gly589= Multiple submitters mucopolysaccharidosis type 1
p.His186= Multiple submitters Inborn genetic diseases
p.Leu209= Multiple submitters mucopolysaccharidosis type 1
p.Leu237= Multiple submitters mucopolysaccharidosis type 1
p.Leu31= Multiple submitters Inborn genetic diseases
p.Leu381= Multiple submitters mucopolysaccharidosis type 1
p.Leu382= Multiple submitters Inborn genetic diseases
p.Leu578= Multiple submitters mucopolysaccharidosis type 1
p.Leu66= Multiple submitters mucopolysaccharidosis type 1
p.Leu74= Multiple submitters mucopolysaccharidosis type 1
p.Phe225= Multiple submitters Inborn genetic diseases
p.Phe290= Multiple submitters mucopolysaccharidosis type 1
p.Pro221= Multiple submitters Inborn genetic diseases
p.Pro232= Multiple submitters mucopolysaccharidosis type 1
p.Pro288= Multiple submitters Inborn genetic diseases
p.Pro294= Multiple submitters Inborn genetic diseases
p.Pro377= Multiple submitters mucopolysaccharidosis type 1
p.Pro465= Multiple submitters mucopolysaccharidosis type 1
p.Pro483= Multiple submitters Inborn genetic diseases
p.Pro54= Multiple submitters mucopolysaccharidosis type 1
p.Pro594= Multiple submitters Inborn genetic diseases
p.Pro637= Multiple submitters Inborn genetic diseases
p.Pro650= Multiple submitters Inborn genetic diseases
p.Ser224= Multiple submitters mucopolysaccharidosis type 1
p.Ser423= Multiple submitters mucopolysaccharidosis type 1
p.Ser586= Multiple submitters Inborn genetic diseases
p.Thr410= Multiple submitters mucopolysaccharidosis type 1
p.Thr611= Multiple submitters Inborn genetic diseases
p.Tyr592= Multiple submitters Inborn genetic diseases
p.Tyr64= Multiple submitters Inborn genetic diseases
p.Val278= Multiple submitters Inborn genetic diseases
c.1189+10G>A Single submitter mucopolysaccharidosis type 1
c.1189+11G>A Single submitter mucopolysaccharidosis type 1
c.1189+11G>T Single submitter mucopolysaccharidosis type 1
c.1189+13C>A Single submitter mucopolysaccharidosis type 1
c.1189+13del Single submitter mucopolysaccharidosis type 1
c.1189+14G>A Single submitter mucopolysaccharidosis type 1
c.1189+16T>C Single submitter mucopolysaccharidosis type 1
c.1189+17G>A Single submitter mucopolysaccharidosis type 1
c.1189+19G>T Single submitter mucopolysaccharidosis type 1
c.1189+7C>T Single submitter mucopolysaccharidosis type 1
c.1189+8G>A Single submitter mucopolysaccharidosis type 1
c.1190-10C>G Single submitter mucopolysaccharidosis type 1
c.1190-10C>T Single submitter mucopolysaccharidosis type 1
c.1190-11_1190-10insG Single submitter mucopolysaccharidosis type 1
c.1190-11_1190-10insT Single submitter mucopolysaccharidosis type 1
c.1190-11C>A Single submitter mucopolysaccharidosis type 1
c.1190-11C>G Single submitter mucopolysaccharidosis type 1
c.1190-11C>T Single submitter mucopolysaccharidosis type 1
c.1190-12_1190-11insA Single submitter mucopolysaccharidosis type 1
c.1190-12_1190-11insG Single submitter mucopolysaccharidosis type 1
c.1190-12C>A Single submitter mucopolysaccharidosis type 1
c.1190-12C>G Single submitter mucopolysaccharidosis type 1
c.1190-13_1190-12insT Single submitter mucopolysaccharidosis type 1
c.1190-13C>A Single submitter mucopolysaccharidosis type 1
c.1190-13C>G Single submitter mucopolysaccharidosis type 1
c.1190-13C>T Single submitter mucopolysaccharidosis type 1
c.1190-14_1190-13insT Single submitter mucopolysaccharidosis type 1
c.1190-14C>G Single submitter mucopolysaccharidosis type 1
c.1190-14C>T Single submitter mucopolysaccharidosis type 1
c.1190-15_1190-14insT Single submitter mucopolysaccharidosis type 1
c.1190-15C>T Single submitter mucopolysaccharidosis type 1
c.1190-16C>G Single submitter mucopolysaccharidosis type 1
c.1190-16C>T Single submitter mucopolysaccharidosis type 1
c.1190-17C>A Single submitter mucopolysaccharidosis type 1
c.1190-17C>T Single submitter mucopolysaccharidosis type 1
c.1190-18C>A Single submitter mucopolysaccharidosis type 1
c.1190-18C>T Single submitter mucopolysaccharidosis type 1
c.1190-19G>A Single submitter mucopolysaccharidosis type 1
c.1190-20G>A Single submitter mucopolysaccharidosis type 1
c.1190-20G>T Single submitter mucopolysaccharidosis type 1
c.1190-7C>T Single submitter mucopolysaccharidosis type 1
c.1190-8C>A Single submitter mucopolysaccharidosis type 1
c.1190-8C>T Single submitter mucopolysaccharidosis type 1
c.1190-9G>A Single submitter mucopolysaccharidosis type 1
c.1190-9G>C Single submitter
c.1402+11_1402+13del Single submitter mucopolysaccharidosis type 1
c.1402+11G>A Single submitter mucopolysaccharidosis type 1
c.1402+18G>A Single submitter mucopolysaccharidosis type 1
c.1402+19G>C Single submitter mucopolysaccharidosis type 1
c.1402+20A>C Single submitter mucopolysaccharidosis type 1
c.1402+7C>T Single submitter mucopolysaccharidosis type 1
c.1402+8G>C Single submitter mucopolysaccharidosis type 1
c.1402+9G>T Single submitter mucopolysaccharidosis type 1
c.1403-11A>G Single submitter mucopolysaccharidosis type 1
c.1403-12C>G Single submitter mucopolysaccharidosis type 1
c.1403-18G>A Single submitter mucopolysaccharidosis type 1
c.1403-20C>T Single submitter mucopolysaccharidosis type 1
c.1403-5C>G Single submitter mucopolysaccharidosis type 1
c.1403-6C>T Single submitter mucopolysaccharidosis type 1
c.1403-7C>T Single submitter mucopolysaccharidosis type 1
c.1524+11C>G Single submitter mucopolysaccharidosis type 1
c.1524+11C>T Single submitter mucopolysaccharidosis type 1
c.1524+12G>A Single submitter mucopolysaccharidosis type 1
c.1524+13C>A Single submitter mucopolysaccharidosis type 1
c.1524+14G>C Single submitter mucopolysaccharidosis type 1
c.1524+14G>T Single submitter mucopolysaccharidosis type 1
c.1524+15G>A Single submitter mucopolysaccharidosis type 1
c.1524+15G>T Single submitter mucopolysaccharidosis type 1
c.1524+16A>T Single submitter mucopolysaccharidosis type 1
c.1524+17G>A Single submitter mucopolysaccharidosis type 1
c.1524+18G>A Single submitter mucopolysaccharidosis type 1
c.1524+18G>C Single submitter mucopolysaccharidosis type 1
c.1524+19G>A Single submitter mucopolysaccharidosis type 1
c.1524+20G>C Single submitter mucopolysaccharidosis type 1
c.1524+33_1524+42del Single submitter
c.1525-13C>A Single submitter mucopolysaccharidosis type 1
c.1525-15G>A Single submitter mucopolysaccharidosis type 1
c.1525-15G>C Single submitter mucopolysaccharidosis type 1
c.1525-15G>T Single submitter mucopolysaccharidosis type 1
c.1525-16C>G Single submitter mucopolysaccharidosis type 1
c.1525-16del Single submitter mucopolysaccharidosis type 1
c.1525-17C>G Single submitter mucopolysaccharidosis type 1
c.1525-17C>T Single submitter mucopolysaccharidosis type 1
c.1525-20G>A Single submitter mucopolysaccharidosis type 1
c.1525-4C>G Single submitter mucopolysaccharidosis type 1
c.1525-5C>T Single submitter mucopolysaccharidosis type 1
c.1525-6G>C Single submitter mucopolysaccharidosis type 1
c.1525-6G>T Single submitter mucopolysaccharidosis type 1
c.158+11C>T Single submitter mucopolysaccharidosis type 1
c.158+12G>A Single submitter mucopolysaccharidosis type 1
c.158+13C>T Single submitter mucopolysaccharidosis type 1
c.158+16C>G Single submitter mucopolysaccharidosis type 1
c.158+16C>T Single submitter mucopolysaccharidosis type 1
c.158+18T>C Single submitter mucopolysaccharidosis type 1
c.158+7G>T Single submitter mucopolysaccharidosis type 1
c.158+8C>T Single submitter mucopolysaccharidosis type 1
c.158+9T>A Single submitter mucopolysaccharidosis type 1
c.158+9T>C Single submitter mucopolysaccharidosis type 1
c.159-17C>T Single submitter mucopolysaccharidosis type 1
c.159-18C>T Single submitter mucopolysaccharidosis type 1
c.159-20C>A Single submitter mucopolysaccharidosis type 1
c.159-20C>T Single submitter mucopolysaccharidosis type 1
c.159-6C>T Single submitter mucopolysaccharidosis type 1
c.159-8G>A Single submitter mucopolysaccharidosis type 1
c.159-9T>C Single submitter mucopolysaccharidosis type 1
c.1650+10A>G Single submitter mucopolysaccharidosis type 1
c.1650+10A>T Single submitter mucopolysaccharidosis type 1
c.1650+12T>A Single submitter mucopolysaccharidosis type 1
c.1650+12T>G Single submitter mucopolysaccharidosis type 1
c.1650+13C>A Single submitter mucopolysaccharidosis type 1
c.1650+13C>T Single submitter mucopolysaccharidosis type 1
c.1650+14C>T Single submitter mucopolysaccharidosis type 1
c.1650+16C>G Single submitter mucopolysaccharidosis type 1
c.1650+16C>T Single submitter mucopolysaccharidosis type 1
c.1650+18A>T Single submitter mucopolysaccharidosis type 1
c.1650+8G>A Single submitter mucopolysaccharidosis type 1
c.1650+9_1650+10insT Single submitter mucopolysaccharidosis type 1
c.1650+9C>T Single submitter mucopolysaccharidosis type 1
c.1651-11C>A Single submitter mucopolysaccharidosis type 1
c.1651-11C>G Single submitter mucopolysaccharidosis type 1
c.1651-14C>T Single submitter mucopolysaccharidosis type 1
c.1651-15C>A Single submitter mucopolysaccharidosis type 1
c.1651-15C>T Single submitter mucopolysaccharidosis type 1
c.1651-4C>G Single submitter mucopolysaccharidosis type 1
c.1651-5C>T Single submitter mucopolysaccharidosis type 1
c.1651-6C>G Single submitter mucopolysaccharidosis type 1
c.1651-6C>T Single submitter mucopolysaccharidosis type 1
c.1651-7_1651-3dup Single submitter mucopolysaccharidosis type 1
c.1651-7C>T Single submitter mucopolysaccharidosis type 1
c.1651-9C>T Single submitter mucopolysaccharidosis type 1
c.1651-9del Single submitter mucopolysaccharidosis type 1
c.1651-9dup Single submitter mucopolysaccharidosis type 1
c.1727+13G>A Single submitter mucopolysaccharidosis type 1
c.1727+14G>A Single submitter mucopolysaccharidosis type 1
c.1727+14G>C Single submitter mucopolysaccharidosis type 1
c.1727+17G>A Single submitter mucopolysaccharidosis type 1
c.1727+17G>T Single submitter mucopolysaccharidosis type 1
c.1727+18C>T Single submitter mucopolysaccharidosis type 1
c.1727+19_1727+21del Single submitter mucopolysaccharidosis type 1
c.1727+7G>A Single submitter mucopolysaccharidosis type 1
c.1727+9G>A Single submitter mucopolysaccharidosis type 1
c.1728-11G>C Single submitter
c.1728-13C>T Single submitter mucopolysaccharidosis type 1
c.1728-16G>C Single submitter mucopolysaccharidosis type 1
c.1728-18T>C Single submitter mucopolysaccharidosis type 1
c.1728-19C>T Single submitter mucopolysaccharidosis type 1
c.1728-3dup Single submitter mucopolysaccharidosis type 1
c.1728-4_1728-3del Single submitter mucopolysaccharidosis type 1
c.1728-4C>A Single submitter mucopolysaccharidosis type 1
c.1728-87C>A Single submitter
c.1728-8C>T Single submitter mucopolysaccharidosis type 1
c.1828+10C>G Single submitter mucopolysaccharidosis type 1
c.1828+12A>C Single submitter mucopolysaccharidosis type 1
c.1828+14C>T Single submitter mucopolysaccharidosis type 1
c.1828+15C>T Single submitter mucopolysaccharidosis type 1
c.1828+15dup Single submitter mucopolysaccharidosis type 1
c.1828+16G>A Single submitter mucopolysaccharidosis type 1
c.1828+18T>C Single submitter
c.1828+20C>T Single submitter mucopolysaccharidosis type 1
c.1828+22dup Single submitter mucopolysaccharidosis type 1
c.1828+8C>A Single submitter mucopolysaccharidosis type 1
c.1829-12C>T Single submitter mucopolysaccharidosis type 1
c.1829-13C>A Single submitter mucopolysaccharidosis type 1
c.1829-13C>T Single submitter mucopolysaccharidosis type 1
c.1829-14C>A Single submitter mucopolysaccharidosis type 1
c.1829-15del Single submitter mucopolysaccharidosis type 1
c.1829-18_1829-17del Single submitter mucopolysaccharidosis type 1
c.1829-18A>C Single submitter mucopolysaccharidosis type 1
c.1829-4C>G Single submitter mucopolysaccharidosis type 1
c.1829-4C>T Single submitter mucopolysaccharidosis type 1
c.1829-6C>T Single submitter mucopolysaccharidosis type 1
c.299+10G>C Single submitter mucopolysaccharidosis type 1
c.299+10G>T Single submitter mucopolysaccharidosis type 1
c.299+11G>C Single submitter mucopolysaccharidosis type 1
c.299+14A>G Single submitter mucopolysaccharidosis type 1
c.299+15G>A Single submitter mucopolysaccharidosis type 1
c.299+3924G>A Single submitter
c.299+9C>T Single submitter mucopolysaccharidosis type 1
c.300-10C>T Single submitter mucopolysaccharidosis type 1
c.300-12G>A Single submitter mucopolysaccharidosis type 1
c.300-13C>G Single submitter mucopolysaccharidosis type 1
c.300-13C>T Single submitter mucopolysaccharidosis type 1
c.300-16G>A Single submitter mucopolysaccharidosis type 1
c.300-18C>T Single submitter mucopolysaccharidosis type 1
c.300-19G>A Single submitter mucopolysaccharidosis type 1
c.300-242C>T Single submitter
c.300-4G>A Single submitter mucopolysaccharidosis type 1
c.300-5T>C Single submitter mucopolysaccharidosis type 1
c.300-8T>C Single submitter mucopolysaccharidosis type 1
c.300-8T>G Single submitter mucopolysaccharidosis type 1
c.300-9C>T Single submitter mucopolysaccharidosis type 1
c.385+11G>T Single submitter mucopolysaccharidosis type 1
c.385+12G>A Single submitter mucopolysaccharidosis type 1
c.385+14T>C Single submitter mucopolysaccharidosis type 1
c.385+15C>T Single submitter mucopolysaccharidosis type 1
c.385+17G>A Single submitter
c.385+19C>A Single submitter mucopolysaccharidosis type 1
c.385+20C>T Single submitter mucopolysaccharidosis type 1
c.385+7T>A Single submitter mucopolysaccharidosis type 1
c.385+8G>A Single submitter mucopolysaccharidosis type 1
c.385+9T>C Single submitter mucopolysaccharidosis type 1
c.386-12C>T Single submitter mucopolysaccharidosis type 1
c.386-14C>T Single submitter mucopolysaccharidosis type 1
c.386-16C>T Single submitter mucopolysaccharidosis type 1
c.386-19C>T Single submitter mucopolysaccharidosis type 1
c.386-4C>A Single submitter mucopolysaccharidosis type 1
c.386-7G>A Single submitter mucopolysaccharidosis type 1
c.386-8T>C Single submitter mucopolysaccharidosis type 1
c.386-9G>C Single submitter mucopolysaccharidosis type 1
c.493+10C>A Single submitter mucopolysaccharidosis type 1
c.493+11G>A Single submitter mucopolysaccharidosis type 1
c.493+132G>C Single submitter
c.493+16C>A Single submitter mucopolysaccharidosis type 1
c.493+17C>T Single submitter mucopolysaccharidosis type 1
c.493+18C>A Single submitter mucopolysaccharidosis type 1
c.493+18C>T Single submitter mucopolysaccharidosis type 1
c.493+20G>T Single submitter mucopolysaccharidosis type 1
c.493+31C>T Single submitter
c.493+7_493+8delinsAG Single submitter mucopolysaccharidosis type 1
c.493+8A>G Single submitter mucopolysaccharidosis type 1
c.494-11C>G Single submitter mucopolysaccharidosis type 1
c.494-12G>C Single submitter mucopolysaccharidosis type 1
c.494-19C>T Single submitter mucopolysaccharidosis type 1
c.494-4G>C Single submitter mucopolysaccharidosis type 1
c.494-6C>T Single submitter mucopolysaccharidosis type 1
c.494-9C>T Single submitter mucopolysaccharidosis type 1
c.589+10G>A Single submitter mucopolysaccharidosis type 1
c.589+17G>A Single submitter mucopolysaccharidosis type 1
c.589+20G>T Single submitter mucopolysaccharidosis type 1
c.589+7A>C Single submitter mucopolysaccharidosis type 1
c.589+7A>G Single submitter mucopolysaccharidosis type 1
c.589+8_590-51dup Single submitter mucopolysaccharidosis type 1
c.589+8C>A Single submitter mucopolysaccharidosis type 1
c.589+8C>T Single submitter mucopolysaccharidosis type 1
c.589+9C>T Single submitter mucopolysaccharidosis type 1
c.590-10C>T Single submitter mucopolysaccharidosis type 1

Uncertain significance 541

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

c.973-4G>A Expert panel mucopolysaccharidosis type 1
p.Ala26Thr Expert panel mucopolysaccharidosis type 1 ⚠
p.Arg100Gly Expert panel mucopolysaccharidosis type 1 ⚠
p.Arg100Lys Expert panel mucopolysaccharidosis type 1 ⚠
p.Arg363His Expert panel mucopolysaccharidosis type 1 ⚠
p.Arg621Gly Expert panel mucopolysaccharidosis type 1 ⚠
p.Asn350Ile Expert panel mucopolysaccharidosis type 1 ⚠
p.Asn73Ser Expert panel mucopolysaccharidosis type 1 ⚠
p.Asp115Asn Expert panel mucopolysaccharidosis type 1 ⚠
p.Asp119Tyr Expert panel mucopolysaccharidosis type 1 ⚠
p.Asp223Glu Expert panel mucopolysaccharidosis type 1 ⚠
p.Asp223Tyr Expert panel mucopolysaccharidosis type 1 ⚠
p.Asp610fs Expert panel mucopolysaccharidosis type 1
p.Cys205Arg Expert panel mucopolysaccharidosis type 1 ⚠
p.Cys205Gly Expert panel mucopolysaccharidosis type 1 ⚠
p.Cys205Ser Expert panel mucopolysaccharidosis type 1 ⚠
p.Cys577Tyr Expert panel mucopolysaccharidosis type 1 ⚠
p.Glu399del Expert panel mucopolysaccharidosis type 1
p.Gly253Cys Expert panel mucopolysaccharidosis type 1 ⚠
p.Gly265Asp Expert panel mucopolysaccharidosis type 1 ⚠
p.Gly409Glu Expert panel mucopolysaccharidosis type 1 ⚠
p.Leu132= Expert panel mucopolysaccharidosis type 1
p.Leu132Pro Expert panel mucopolysaccharidosis type 1 ⚠
p.Leu237Arg Expert panel mucopolysaccharidosis type 1 ⚠
p.Leu421Pro Expert panel mucopolysaccharidosis type 1 ⚠
p.Leu526Pro Expert panel mucopolysaccharidosis type 1 ⚠
p.Leu535Phe Expert panel mucopolysaccharidosis type 1
p.Leu72= Expert panel mucopolysaccharidosis type 1
p.Lys384Asn Expert panel mucopolysaccharidosis type 1 ⚠
p.Lys576Glu Expert panel mucopolysaccharidosis type 1
p.Phe177Leu Expert panel mucopolysaccharidosis type 1 ⚠
p.Pro183Ser Expert panel mucopolysaccharidosis type 1 ⚠
p.Pro22Ser Expert panel mucopolysaccharidosis type 1 ⚠
p.Pro302Thr Expert panel mucopolysaccharidosis type 1 ⚠
p.Pro357Leu Expert panel mucopolysaccharidosis type 1 ⚠
p.Ser157Pro Expert panel mucopolysaccharidosis type 1 ⚠
p.Ser224Pro Expert panel mucopolysaccharidosis type 1 ⚠
p.Thr364Ala Expert panel mucopolysaccharidosis type 1 ⚠
p.Thr364Arg Expert panel mucopolysaccharidosis type 1 ⚠
p.Thr364Lys Expert panel mucopolysaccharidosis type 1 ⚠
p.Tyr625Ter Expert panel mucopolysaccharidosis type 1
p.Val322Leu Expert panel mucopolysaccharidosis type 1 ⚠
c.1828+5G>A Multiple submitters mucopolysaccharidosis type 1
c.299+1368C>T Multiple submitters hypersulfaturia ⚠
c.299+1542A>T Multiple submitters hypersulfaturia ⚠
c.299+3399C>T Multiple submitters nephrolithiasis susceptibility caused by SLC26A1 ⚠
c.493+4G>A Multiple submitters mucopolysaccharidosis type 1
c.493+6C>G Multiple submitters mucopolysaccharidosis type 1
c.493+6C>T Multiple submitters mucopolysaccharidosis type 1
c.793-9C>A Multiple submitters mucopolysaccharidosis type 1
p.Ala15_Ser16insLeuLeuAla Multiple submitters mucopolysaccharidosis type 1
p.Ala344Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala367Leu Multiple submitters mucopolysaccharidosis type 1
p.Ala403Val Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Ala422Pro Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Ala424Thr Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Ala448Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala556Pro Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Arg166Thr Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Arg210His Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Arg217Trp Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Arg263Trp Multiple submitters mucopolysaccharidosis type 1
p.Arg368Cys Multiple submitters ⚠
p.Arg38Cys Multiple submitters mucopolysaccharidosis type 1
p.Arg435Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg435Gly Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Arg435His Multiple submitters Inborn genetic diseases ⚠
p.Arg447_Ala448insAspAspThrArg Multiple submitters mucopolysaccharidosis type 1
p.Arg447Cys Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Arg447His Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Arg45Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg502Gln Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Arg502Trp Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Arg503Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg516His Multiple submitters Inborn genetic diseases ⚠
p.Arg553Leu Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Arg555Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg555His Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Arg621Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn200Lys Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Asn336Thr Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Asn415Ser Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Asn652Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp119Ala Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Asp257Gly Multiple submitters Hurler-Scheie syndrome ⚠
p.Asp298Glu Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Asp35Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp397Glu Multiple submitters mucopolysaccharidosis type 1
p.Asp444Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp445Gly Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Cys53Ser Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Gln282Leu Multiple submitters Inborn genetic diseases ⚠
p.Gln370Arg Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Gln60Arg Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Glu276Asp Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Glu545Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu582Lys Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Gly138Asp Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Gly165Ser Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Gly168Arg Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Gly219Glu Multiple submitters ⚠
p.Gly222Cys Multiple submitters ⚠
p.Gly253Asp Multiple submitters ⚠
p.Gly549Val Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Gly589Cys Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Gly78Asp Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Gly84Ala Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Gly84Ser Multiple submitters Inborn genetic diseases ⚠
p.His139Pro Multiple submitters mucopolysaccharidosis type 1 ⚠
p.His186Arg Multiple submitters Inborn genetic diseases ⚠
p.His30Gln Multiple submitters mucopolysaccharidosis type 1 ⚠
p.His416Pro Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Ile259Leu Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Ile272Leu Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Ile283Thr Multiple submitters ⚠
p.Leu114Met Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Leu11Val Multiple submitters Inborn genetic diseases ⚠
p.Leu155Val Multiple submitters Inborn genetic diseases ⚠
p.Leu17_Ala20del Multiple submitters Hurler-Scheie syndrome
p.Leu256Pro Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Leu334Arg Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Leu96Arg Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Met193Ile Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Met390Thr Multiple submitters Inborn genetic diseases ⚠
p.Met504del Multiple submitters mucopolysaccharidosis type 1
p.Phe248del Multiple submitters Hurler syndrome
p.Phe495Leu Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Pro214dup Multiple submitters mucopolysaccharidosis type 1
p.Pro21Thr Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Pro22Ala Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Pro22Leu Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Pro29Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro311Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro311Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro376Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro385Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro385Ser Multiple submitters IDUA-related disorder ⚠
p.Pro42Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro450Arg Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Pro450His Multiple submitters Hurler syndrome ⚠
p.Pro464Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro483Thr Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Pro493Arg Multiple submitters Hurler syndrome ⚠
p.Pro510Leu Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Pro517Arg Multiple submitters Inborn genetic diseases ⚠
p.Pro55Leu Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Pro637Leu Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Pro81Leu Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Pro81Ser Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Ser137Trp Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Ser213_Ala215dup Multiple submitters mucopolysaccharidosis type 1
p.Ser269Cys Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Ser307Phe Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Ser354_Tyr355insAsnAspAsnAlaPheLeuSer Multiple submitters mucopolysaccharidosis type 1
p.Ser406Trp Multiple submitters Inborn genetic diseases ⚠
p.Ser586Phe Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Ser67Cys Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Ser67Gly Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Thr179Ser Multiple submitters ⚠
p.Thr249Ile Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Thr410Pro Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Thr446Asn Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Thr497Lys Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Thr560Asn Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Trp306Gly Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Tyr163His Multiple submitters IDUA-related disorder ⚠
p.Tyr258Cys Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Tyr318His Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Val172Ile Multiple submitters ⚠
p.Val172Phe Multiple submitters Inborn genetic diseases ⚠
p.Val371Asp Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Val379Met Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Val405Gly Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Val551Leu Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Val573Leu Multiple submitters mucopolysaccharidosis type 1 ⚠
p.Val65Ile Multiple submitters mucopolysaccharidosis type 1 ⚠
c.1189+6C>T Single submitter mucopolysaccharidosis type 1
c.1402+5G>A Single submitter mucopolysaccharidosis type 1
c.158+4A>C Single submitter
c.159-9T>A Single submitter Hurler-Scheie syndrome
c.1728-3C>G Single submitter mucopolysaccharidosis type 1
c.1828+4C>T Single submitter mucopolysaccharidosis type 1
c.1828+68G>A Single submitter Hurler-Scheie syndrome
c.1829-3C>T Single submitter mucopolysaccharidosis type 1
c.299+1212del Single submitter Hurler syndrome
c.299+1279C>T Single submitter nephrolithiasis susceptibility caused by SLC26A1 ⚠
c.299+1627G>A Single submitter nephrolithiasis susceptibility caused by SLC26A1 ⚠
c.299+2403C>A Single submitter ⚠
c.299+3241C>A Single submitter ⚠
c.299+3566G>T Single submitter nephrolithiasis susceptibility caused by SLC26A1
c.300-1247C>T Single submitter
c.386-44G>A Single submitter
c.494-43C>T Single submitter mucopolysaccharidosis type 1
c.590-45G>A Single submitter
c.792+38_793-24del Single submitter
c.793-10C>G Single submitter mucopolysaccharidosis type 1
c.972+6C>G Single submitter mucopolysaccharidosis type 1
c.973-13T>G Single submitter mucopolysaccharidosis type 1
c.-2C>T Single submitter mucopolysaccharidosis type 1
c.-71C>T Single submitter Scheie syndrome
c.*100A>G Single submitter mucopolysaccharidosis type 1
p.10LLA[1] Single submitter mucopolysaccharidosis type 1
p.Ala12Val Single submitter ⚠
p.Ala15Val Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala170Val Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala19_Ala20insSerLeuLeuAla Single submitter mucopolysaccharidosis type 1
p.Ala20Val Single submitter Inborn genetic diseases ⚠
p.Ala314Thr Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala320Thr Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala344Pro Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala351Val Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala361Pro Single submitter
p.Ala367Glu Single submitter ⚠
p.Ala389Thr Single submitter Inborn genetic diseases ⚠
p.Ala403Asp Single submitter Inborn genetic diseases ⚠
p.Ala403Thr Single submitter Hurler syndrome ⚠
p.Ala408Thr Single submitter ⚠
p.Ala408Val Single submitter Inborn genetic diseases ⚠
p.Ala422Val Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala424Asp Single submitter ⚠
p.Ala437Pro Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala442Gly Single submitter Inborn genetic diseases ⚠
p.Ala455Val Single submitter Inborn genetic diseases ⚠
p.Ala513_Ala514insGlyArgValAlaAla Single submitter
p.Ala513Leu Single submitter mucopolysaccharidosis type 1
p.Ala520Pro Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala556Thr Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala622Val Single submitter Inborn genetic diseases ⚠
p.Ala79Thr Single submitter Hurler-Scheie syndrome
p.Ala8Ser Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala9Gly Single submitter mucopolysaccharidosis type 1 ⚠
p.Ala9Met Single submitter mucopolysaccharidosis type 1
p.Arg100Ser Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg105Pro Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg210Gln Single submitter mucopolysaccharidosis type 1
p.Arg210Gly Single submitter ⚠
p.Arg239Ser Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg263Gly Single submitter Inborn genetic diseases
p.Arg2Pro Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg368His Single submitter ⚠
p.Arg375Cys Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg383Gly Single submitter ⚠
p.Arg38Leu Single submitter Inborn genetic diseases ⚠
p.Arg38Ser Single submitter ⚠
p.Arg459Leu Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg459Trp Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg45Pro Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg461Cys Single submitter ⚠
p.Arg461His Single submitter ⚠
p.Arg48Gly Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg48Lys Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg48Ser Single submitter Inborn genetic diseases ⚠
p.Arg492Leu Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg492Trp Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg502Pro Single submitter ⚠
p.Arg516Cys Single submitter Inborn genetic diseases ⚠
p.Arg523His Single submitter ⚠
p.Arg523Leu Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg531Gln Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg543His Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg543Ser Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg555Gly Single submitter ⚠
p.Arg597Lys Single submitter Inborn genetic diseases ⚠
p.Arg628Gly Single submitter mucopolysaccharidosis type 1 ⚠
p.Arg628Leu Single submitter ⚠
p.Arg83His Single submitter mucopolysaccharidosis type 1 ⚠
p.Asn181Ser Single submitter ⚠
p.Asn190Ser Single submitter mucopolysaccharidosis type 1 ⚠
p.Asn331Asp Single submitter Inborn genetic diseases ⚠
p.Asn331Lys Single submitter
p.Asn336Asp Single submitter Inborn genetic diseases ⚠
p.Asn350Ser Single submitter Scheie syndrome ⚠
p.Asn373del Single submitter mucopolysaccharidosis type 1
p.Asn451Asp Single submitter Inborn genetic diseases ⚠
p.Asn478Asp Single submitter ⚠
p.Asn478Lys Single submitter ⚠
p.Asn603Lys Single submitter ⚠
p.Asp154Glu Single submitter mucopolysaccharidosis type 1 ⚠
p.Asp184Gly Single submitter ⚠
p.Asp184Tyr Single submitter ⚠
p.Asp203His Single submitter ⚠
p.Asp397His Single submitter ⚠
p.Asp413_Leu421del Single submitter mucopolysaccharidosis type 1
p.Asp432Asn Single submitter ⚠
p.Asp477Gly Single submitter ⚠
p.Asp484Asn Single submitter Inborn genetic diseases ⚠
p.Asp484Glu Single submitter mucopolysaccharidosis type 1 ⚠
p.Asp509His Single submitter ⚠
p.Asp624Tyr Single submitter ⚠
p.Cys53Arg Single submitter ⚠
p.Cys541Arg Single submitter ⚠
p.Gln147Lys Single submitter ⚠
p.Gln328His Single submitter mucopolysaccharidosis type 1 ⚠
p.Gln380His Single submitter mucopolysaccharidosis type 1 ⚠
p.Gln400Leu Single submitter ⚠
p.Gln428Arg Single submitter mucopolysaccharidosis type 1 ⚠
p.Gln500Glu Single submitter mucopolysaccharidosis type 1 ⚠
p.Gln550= Single submitter
p.Gln561Glu Single submitter Inborn genetic diseases ⚠
p.Gln60Pro Single submitter mucopolysaccharidosis type 1 ⚠