SGSH — 1043 ClinVar variants

All ClinVar germline SGSH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 339 flagged for review →

54 Pathogenic · 59 Pathogenic/Likely pathogenic · 80 Likely pathogenic · 67 Conflicting · 24 Benign · 12 Benign/Likely benign · 408 Likely benign · 339 Uncertain significance

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

⚑ Evidence disagreements 339

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 4

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

SGSH p.Arg206Pro Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Gln380Arg Pathogenic/Likely pathogenic Multiple submitters
SGSH-related disorder
SGSH p.Glu355Lys Pathogenic/Likely pathogenic Multiple submitters
SGSH-related disorder
SGSH p.Val486Phe Likely pathogenic Single submitter
mucopolysaccharidosis type 3A

Predictors agree, ClinVar conflicts 30

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

SGSH p.Ala137Val Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala176Thr Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg105Gln Conflicting Single submitter
Inborn genetic diseases
SGSH p.Arg245Leu Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg385His Conflicting Single submitter
Inborn genetic diseases
SGSH p.Arg428His Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg441Gln Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg443Gln Conflicting Single submitter
Inborn genetic diseases
SGSH p.Arg465Gln Conflicting Single submitter
Inborn genetic diseases
SGSH p.Asn274Lys Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asp179Asn Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asp484Asn Conflicting Single submitter
Inborn genetic diseases
SGSH p.Cys183Tyr Conflicting Single submitter
intellectual disability
SGSH p.Gln213Lys Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gly251Ala Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gly275Arg Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.His181Arg Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.His84Arg Conflicting Single submitter
SGSH-related disorder
SGSH p.Leu146Pro Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Leu318Ile Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Pro180Leu Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser347Phe Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser57Arg Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser66Leu Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Thr139Met Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Thr321Ala Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Tyr439Cys Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Val131Met Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Val243Ile Conflicting Single submitter
Inborn genetic diseases
SGSH p.Val404Ile Conflicting Single submitter
mucopolysaccharidosis type 3A

Predictors lean, ClinVar uncertain 156

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 156

SGSH p.Ala176Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Ala176Gly Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Ala311Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Ala351Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Ala359Val Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Ala39Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Ala434Val Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Ala482Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg117His Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Arg160Trp Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg206His Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg233Gly Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg23Trp Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg258Gly Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg258His Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg377Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg382Gln Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg435His Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Arg443Trp Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg465Trp Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Asn228Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Asn500Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Asp102Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Asp168Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Asp440Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Asp454Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Cys495Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Gln213Glu Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Gln472His Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Gly115Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Gly244Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Gly306Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Gly485Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.His178Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Ile322Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Leu468Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Phe270Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Phe362Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Phe98Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Pro299Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Pro397Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Pro48Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Ser71Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Thr211Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Thr321Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Thr415Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Trp473Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Tyr240Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Tyr40Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Tyr424His Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Val145Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Val175Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Val226Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Val268Ala Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Val387Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Val486Ile Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Ala20Pro Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala30Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala39Val Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala46Thr Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala482Thr Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala482Val Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala63Val Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala75Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg160Gln Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg160Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg19Pro Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg21His Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Arg21Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg21Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg233Leu Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Arg304Pro Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg346Gln Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg382Trp Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg428Cys Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asn274Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asn391Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asn99Asp Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Asp265Asn Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asp32Glu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asp440Glu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asp440Gly Uncertain significance Single submitter
SGSH p.Asp454Gly Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asp51Asn Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Cys18Gly Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Cys194Arg Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Cys8Tyr Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gln449Lys Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gln494Arg Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Glu129Gln Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Glu300Ala Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Glu310Lys Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Glu501Gln Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Gly122Trp Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gly127Glu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gly249Arg Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gly251Arg Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.His342Asp Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.His383Asn Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.His429Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.His446Gln Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ile155Met Uncertain significance Single submitter
SGSH p.Ile269Thr Uncertain significance Single submitter
SGSH p.Ile335Val Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Leu11Val Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Leu12Val Uncertain significance Single submitter
SGSH p.Leu348Pro Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Leu491Arg Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Leu491Phe Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Leu91Pro Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Lys103Arg Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Lys339Glu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Met246Val Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Phe136Ile Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Phe392Leu Uncertain significance Single submitter
SGSH p.Pro108Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Pro22Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Pro293Arg Uncertain significance Single submitter
SGSH p.Pro293Leu Uncertain significance Single submitter
SGSH p.Pro293Thr Uncertain significance Single submitter
SGSH p.Pro395Leu Uncertain significance Single submitter
SGSH p.Pro455Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser100Phe Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser100Tyr Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser112Thr Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser314Asn Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser338Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser364Arg Uncertain significance Single submitter
SGSH p.Ser442Asn Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser492Pro Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser57Gly Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Thr130Ile Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Thr192Ala Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Thr448Ala Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Thr448Ile Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Thr453Ser Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Thr47Ile Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Trp210Arg Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Tyr312Phe Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Tyr403Cys Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Val148Met Uncertain significance Single submitter
SGSH p.Val220Gly Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Val250Asp Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Val262Ile Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Val296Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Val313Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Val370Ile Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Val480Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Val95Met Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Ala417Gly Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A

Predictors split 149

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

SGSH p.Ala238Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Ala260Thr Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Ala30Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Ala75Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg23Gly Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg304Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg346Trp Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg385Cys Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Arg414His Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Arg435Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Arg441Trp Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg55Cys Benign/Likely benign Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg55His Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Arg56Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg61Cys Likely benign Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Arg61His Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Asn41Lys Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Asn99Lys Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Asp235Asn Pathogenic/Likely pathogenic Multiple submitters
SGSH-related disorder
SGSH p.Gln147Arg Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Gln93Arg Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Glu195Asp Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Glu488Lys Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Gly191Arg Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Gly261Ser Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Gly281Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Gly281Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.His92Gln Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Lys156Asn Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Met372Ile Benign Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Pro133Leu Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Pro133Thr Likely benign Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Pro170Ala Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Pro230Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Pro230Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Pro288Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Pro350Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Pro420Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Pro497Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Ser298Pro Pathogenic Multiple submitters
Inborn genetic diseases
SGSH p.Thr241Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Thr271Met Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Thr319Met Uncertain significance Multiple submitters
Inborn genetic diseases
SGSH p.Trp423Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Val126Met Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Val159Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Val220Met Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Val379Met Uncertain significance Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Val387Met Benign/Likely benign Multiple submitters
mucopolysaccharidosis type 3A
SGSH p.Ala238Val Uncertain significance Single submitter
SGSH p.Ala30Pro Likely pathogenic Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala30Thr Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala354Pro Uncertain significance Single submitter
SGSH p.Ala44Thr Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala52Thr Likely benign Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala52Val Likely benign Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala75Val Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg105Trp Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg117Cys Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg169Trp Uncertain significance Single submitter
SGSH p.Arg233Gln Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg258Cys Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg282Lys Uncertain significance Single submitter
SGSH p.Arg304His Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg304Leu Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg382Pro Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg414Cys Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg414Gly Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg414Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg435Cys Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg456Cys Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Arg61Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asn41Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asn62Asp Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asn62Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asp209Glu Likely pathogenic Single submitter
SGSH p.Asp235His Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asp265Gly Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Asp399Asn Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asp399His Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asp410Gly Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Asp454Val Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gln239Arg Likely pathogenic Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gln307His Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Gln83His Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gln85Arg Likely pathogenic Single submitter
mucopolysaccharidosis type 3A
SGSH p.Glu201Gly Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Glu292Lys Likely pathogenic Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gly115Ala Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gly203Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gly33Arg Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gly33Glu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gly418Ala Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Gly418Asp Conflicting Single submitter
Inborn genetic diseases
SGSH p.Gly90Ala Uncertain significance Single submitter
SGSH p.His388Tyr Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.His49Arg Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.His49Gln Uncertain significance Single submitter
SGSH p.His96Gln Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ile276Met Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ile335Thr Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Leu110Gln Uncertain significance Single submitter
SGSH p.Leu12Arg Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Leu13Pro Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Leu318Phe Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Leu343Phe Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Leu348Phe Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Leu59Phe Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Leu78Phe Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Met88Ile Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Phe225Leu Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Phe396Leu Conflicting Single submitter
Inborn genetic diseases
SGSH p.Phe402Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Pro133Arg Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Pro188His Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Pro188Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Pro208Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Pro356Thr Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Pro395Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Pro483Leu Conflicting Single submitter
SGSH p.Pro82Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Pro82Thr Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser144Thr Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser309Arg Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser327Ala Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Ser327Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser364Gly Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser37Arg Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ser69Gly Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Thr118Ala Uncertain significance Single submitter
Inborn genetic diseases
SGSH p.Thr139Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Thr241Ala Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Thr344Ala Uncertain significance Single submitter
SGSH p.Thr360Asn Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Thr421Met Conflicting Single submitter
mucopolysaccharidosis type 3A
SGSH p.Thr475Ser Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Trp358Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Tyr215His Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Tyr312Cys Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Tyr333His Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Val126Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Val486Leu Uncertain significance Single submitter
mucopolysaccharidosis type 3A
SGSH p.Ala137Pro Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
SGSH p.Asp265Ala Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
SGSH p.Gly205Ser Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
SGSH p.His388Arg Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
SGSH p.Ile120Val Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
SGSH p.Pro478His Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A
SGSH p.Val268Leu Uncertain significance No assertion criteria
mucopolysaccharidosis type 3A

All SGSH variants

Pathogenic 54

p.Arg150Gln Multiple submitters SGSH-related disorder
p.Arg245His Multiple submitters SGSH-related disorder
p.Cys194Ter Multiple submitters mucopolysaccharidosis type 3A
p.Leu17fs Multiple submitters mucopolysaccharidosis type 3A
p.Leu343fs Multiple submitters Inborn genetic diseases
p.Ser298Pro Multiple submitters Inborn genetic diseases ⚠
p.Ser66Trp Multiple submitters SGSH-related disorder
p.Thr415fs Multiple submitters mucopolysaccharidosis type 3A
p.Tyr40Ter Multiple submitters mucopolysaccharidosis type 3A
p.Tyr89fs Multiple submitters mucopolysaccharidosis type 3A
p.Val126fs Multiple submitters mucopolysaccharidosis type 3A
p.Val361fs Multiple submitters SGSH-related disorder
c.250-289_463del Single submitter mucopolysaccharidosis type 3A
p.Ala52fs Single submitter mucopolysaccharidosis type 3A
p.Arg182fs Single submitter mucopolysaccharidosis type 3A
p.Asn264_Asp265delinsAlaArgSerGlyGlyArgGlyGlyValTrpTrpLysPhePheValMetMetSerValTrpLysAlaAlaValGlnThrPheAsnCysTyrTyrTyrValLeuGlnAlaLeuIleAsnTer Single submitter mucopolysaccharidosis type 3A
p.Asp135Ter Single submitter mucopolysaccharidosis type 3A
p.Asp265delinsGluGlyAlaIleAsnAsnArgMetArgGlnGluSerLysThrAspThrAlaThrTer Single submitter mucopolysaccharidosis type 3A
p.Asp426fs Single submitter mucopolysaccharidosis type 3A
p.Asp477fs Single submitter mucopolysaccharidosis type 3A
p.Gln239fs Single submitter mucopolysaccharidosis type 3A
p.Gln255fs Single submitter mucopolysaccharidosis type 3A
p.Gln255Ter Single submitter mucopolysaccharidosis type 3A
p.Glu140Ter Single submitter mucopolysaccharidosis type 3A
p.Gly122Arg Single submitter mucopolysaccharidosis type 3A
p.Gly200Ter Single submitter mucopolysaccharidosis type 3A
p.Gly249Ter Single submitter mucopolysaccharidosis type 3A
p.Gly33Ter Single submitter mucopolysaccharidosis type 3A
p.His429fs Single submitter mucopolysaccharidosis type 3A
p.His446fs Single submitter mucopolysaccharidosis type 3A
p.Ile276fs Single submitter mucopolysaccharidosis type 3A
p.Leu109fs Single submitter mucopolysaccharidosis type 3A
p.Lys161Ter Single submitter mucopolysaccharidosis type 3A
p.Phe101Leu Single submitter mucopolysaccharidosis type 3A
p.Phe193Ser Single submitter mucopolysaccharidosis type 3A
p.Phe193Ter Single submitter mucopolysaccharidosis type 3A
p.Phe278fs Single submitter mucopolysaccharidosis type 3A
p.Phe60_Leu78del Single submitter mucopolysaccharidosis type 3A
p.Pro133fs Single submitter mucopolysaccharidosis type 3A
p.Ser378fs Single submitter mucopolysaccharidosis type 3A
p.Thr130fs Single submitter mucopolysaccharidosis type 3A
p.Thr421fs Single submitter mucopolysaccharidosis type 3A
p.Trp305Ter Single submitter mucopolysaccharidosis type 3A
p.Trp423fs Single submitter mucopolysaccharidosis type 3A
p.Trp423Ter Single submitter mucopolysaccharidosis type 3A
p.Trp473fs Single submitter mucopolysaccharidosis type 3A
p.Trp473Ter Single submitter mucopolysaccharidosis type 3A
p.Tyr215fs Single submitter mucopolysaccharidosis type 3A
p.Tyr215Ter Single submitter mucopolysaccharidosis type 3A
p.Tyr224Ter Single submitter mucopolysaccharidosis type 3A
p.Val131fs Single submitter mucopolysaccharidosis type 3A
p.Val67fs Single submitter mucopolysaccharidosis type 3A
p.Val95fs Single submitter mucopolysaccharidosis type 3A
p.Arg74Leu No assertion criteria mucopolysaccharidosis type 3A

Pathogenic/Likely pathogenic 59

c.250-2A>G Multiple submitters mucopolysaccharidosis type 3A
c.356-1G>A Multiple submitters mucopolysaccharidosis type 3A
c.356-2A>G Multiple submitters mucopolysaccharidosis type 3A
c.506+1G>A Multiple submitters mucopolysaccharidosis type 3A
c.745+1G>C Multiple submitters mucopolysaccharidosis type 3A
c.89-2A>G Multiple submitters mucopolysaccharidosis type 3A
c.949+1G>A Multiple submitters mucopolysaccharidosis type 3A
p.Ala231fs Multiple submitters mucopolysaccharidosis type 3A
p.Ala232fs Multiple submitters mucopolysaccharidosis type 3A
p.Arg150Trp Multiple submitters mucopolysaccharidosis type 3A
p.Arg182Cys Multiple submitters mucopolysaccharidosis type 3A
p.Arg182His Multiple submitters mucopolysaccharidosis type 3A
p.Arg206Pro Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg233Ter Multiple submitters Inborn genetic diseases
p.Arg245Cys Multiple submitters SGSH-related disorder
p.Arg377Cys Multiple submitters Inborn genetic diseases
p.Arg377His Multiple submitters SGSH-related disorder
p.Arg385fs Multiple submitters mucopolysaccharidosis type 3A
p.Arg433Gln Multiple submitters Inborn genetic diseases
p.Arg433Trp Multiple submitters mucopolysaccharidosis type 3A
p.Arg74Cys Multiple submitters SGSH-related disorder
p.Arg74His Multiple submitters mucopolysaccharidosis type 3A
p.Asn389Lys Multiple submitters mucopolysaccharidosis type 3A
p.Asn389Ser Multiple submitters mucopolysaccharidosis type 3A
p.Asp235Asn Multiple submitters SGSH-related disorder ⚠
p.Asp273Asn Multiple submitters mucopolysaccharidosis type 3A
p.Gln164Ter Multiple submitters mucopolysaccharidosis type 3A
p.Gln166Ter Multiple submitters mucopolysaccharidosis type 3A
p.Gln213fs Multiple submitters mucopolysaccharidosis type 3A
p.Gln365Ter Multiple submitters mucopolysaccharidosis type 3A
p.Gln380Arg Multiple submitters SGSH-related disorder ⚠
p.Gln409Ter Multiple submitters mucopolysaccharidosis type 3A
p.Gln449fs Multiple submitters mucopolysaccharidosis type 3A
p.Gln449Ter Multiple submitters mucopolysaccharidosis type 3A
p.Gln459Ter Multiple submitters mucopolysaccharidosis type 3A
p.Gln93Ter Multiple submitters mucopolysaccharidosis type 3A
p.Glu355Lys Multiple submitters SGSH-related disorder ⚠
p.Glu369Lys Multiple submitters mucopolysaccharidosis type 3A
p.Glu447Lys Multiple submitters Inborn genetic diseases
p.Gly191Arg Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Gly90Arg Multiple submitters mucopolysaccharidosis type 3A
p.His476fs Multiple submitters Inborn genetic diseases
p.Lys156Ter Multiple submitters mucopolysaccharidosis type 3A
p.Lys303fs Multiple submitters mucopolysaccharidosis type 3A
p.Phe101del Multiple submitters mucopolysaccharidosis type 3A
p.Phe101Ser Multiple submitters mucopolysaccharidosis type 3A
p.Pro128Leu Multiple submitters mucopolysaccharidosis type 3A
p.Pro293Ser Multiple submitters mucopolysaccharidosis type 3A
p.Ser364fs Multiple submitters mucopolysaccharidosis type 3A
p.Thr271Met Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Thr79Pro Multiple submitters mucopolysaccharidosis type 3A
p.Trp210Ter Multiple submitters mucopolysaccharidosis type 3A
p.Trp471Ter Multiple submitters mucopolysaccharidosis type 3A
p.Tyr424_Arg428delinsTer Multiple submitters SGSH-related disorder
p.Tyr432_Arg435delinsCys Multiple submitters mucopolysaccharidosis type 3A
p.Tyr439Ter Multiple submitters mucopolysaccharidosis type 3A
p.Tyr89Ter Multiple submitters mucopolysaccharidosis type 3A
p.Val253fs Multiple submitters SGSH-related disorder
p.Val379fs Multiple submitters SGSH-related disorder

Likely pathogenic 80

p.Ala334fs Multiple submitters mucopolysaccharidosis type 3A
p.Ala63Asp Multiple submitters mucopolysaccharidosis type 3A
p.Asn151fs Multiple submitters mucopolysaccharidosis type 3A
p.Asp477Asn Multiple submitters mucopolysaccharidosis type 3A
p.Pro128fs Multiple submitters SGSH-related disorder
p.Trp358Ter Multiple submitters mucopolysaccharidosis type 3A
p.Tyr224fs Multiple submitters mucopolysaccharidosis type 3A
p.Tyr40Asn Multiple submitters mucopolysaccharidosis type 3A
c.249+1G>A Single submitter mucopolysaccharidosis type 3A
c.354_355+30del Single submitter mucopolysaccharidosis type 3A
c.356-29_380del Single submitter mucopolysaccharidosis type 3A
c.36_88+420del Single submitter mucopolysaccharidosis type 3A
c.506+2T>A Single submitter mucopolysaccharidosis type 3A
c.663+1G>A Single submitter mucopolysaccharidosis type 3A
c.664-13C>G Single submitter mucopolysaccharidosis type 3A
c.664-1G>T Single submitter mucopolysaccharidosis type 3A
c.88_88+67del Single submitter mucopolysaccharidosis type 3A
p.Ala176fs Single submitter mucopolysaccharidosis type 3A
p.Ala30Pro Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg150Pro Single submitter mucopolysaccharidosis type 3A
p.Arg245Ser Single submitter mucopolysaccharidosis type 3A
p.Arg377Ser Single submitter mucopolysaccharidosis type 3A
p.Arg456fs Single submitter mucopolysaccharidosis type 3A
p.Arg74Ser Single submitter mucopolysaccharidosis type 3A
p.Asn24fs Single submitter mucopolysaccharidosis type 3A
p.Asn264fs Single submitter SGSH-related disorder
p.Asp209Glu Single submitter ⚠
p.Asp235Tyr Single submitter mucopolysaccharidosis type 3A
p.Asp317His Single submitter mucopolysaccharidosis type 3A
p.Asp410fs Single submitter mucopolysaccharidosis type 3A
p.Asp477Glu Single submitter mucopolysaccharidosis type 3A
p.Gln239Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Gln380Ter Single submitter mucopolysaccharidosis type 3A
p.Gln400Ter Single submitter mucopolysaccharidosis type 3A
p.Gln409fs Single submitter mucopolysaccharidosis type 3A
p.Gln467fs Single submitter mucopolysaccharidosis type 3A
p.Gln472Ter Single submitter mucopolysaccharidosis type 3A
p.Gln83Ter Single submitter mucopolysaccharidosis type 3A
p.Gln85Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Glu292Lys Single submitter mucopolysaccharidosis type 3A ⚠
p.Glu355fs Single submitter mucopolysaccharidosis type 3A
p.Glu355Ter Single submitter mucopolysaccharidosis type 3A
p.Glu437Lys Single submitter mucopolysaccharidosis type 3A
p.Glu447Gly Single submitter mucopolysaccharidosis type 3A
p.Glu462Ter Single submitter mucopolysaccharidosis type 3A
p.Gly115fs Single submitter mucopolysaccharidosis type 3A
p.Gly16fs Single submitter mucopolysaccharidosis type 3A
p.Gly191Ala Single submitter mucopolysaccharidosis type 3A
p.Gly289fs Single submitter mucopolysaccharidosis type 3A
p.Gly80Asp Single submitter mucopolysaccharidosis type 3A
p.Gly80Val Single submitter mucopolysaccharidosis type 3A
p.His181Tyr Single submitter mucopolysaccharidosis type 3A
p.His383fs Single submitter mucopolysaccharidosis type 3A
p.Leu348fs Single submitter mucopolysaccharidosis type 3A
p.Leu357fs Single submitter mucopolysaccharidosis type 3A
p.Leu411Pro Single submitter
p.Leu50_Ser57delinsArg Single submitter mucopolysaccharidosis type 3A
p.Leu50fs Single submitter mucopolysaccharidosis type 3A
p.Met376Lys Single submitter mucopolysaccharidosis type 3A
p.Phe136fs Single submitter mucopolysaccharidosis type 3A
p.Phe362fs Single submitter mucopolysaccharidosis type 3A
p.Phe392fs Single submitter mucopolysaccharidosis type 3A
p.Pro128Ser Single submitter mucopolysaccharidosis type 3A
p.Pro72Arg Single submitter
p.Ser112fs Single submitter mucopolysaccharidosis type 3A
p.Ser366fs Single submitter mucopolysaccharidosis type 3A
p.Ser73fs Single submitter mucopolysaccharidosis type 3A
p.Thr192fs Single submitter mucopolysaccharidosis type 3A
p.Thr407fs Single submitter mucopolysaccharidosis type 3A
p.Thr416fs Single submitter mucopolysaccharidosis type 3A
p.Trp325Cys Single submitter mucopolysaccharidosis type 3A
p.Trp436Ter Single submitter mucopolysaccharidosis type 3A
p.Tyr132Ter Single submitter mucopolysaccharidosis type 3A
p.Tyr374His Single submitter mucopolysaccharidosis type 3A
p.Tyr424Ter Single submitter mucopolysaccharidosis type 3A
p.Tyr430Ter Single submitter mucopolysaccharidosis type 3A
p.Val486fs Single submitter mucopolysaccharidosis type 3A
p.Val486Phe Single submitter mucopolysaccharidosis type 3A ⚠
p.Cys18Ter No assertion criteria mucopolysaccharidosis type 3A
p.Cys9_Ala10insTer No assertion criteria mucopolysaccharidosis type 3A

Conflicting classifications of pathogenicity 67

c.250-15C>T Single submitter mucopolysaccharidosis type 3A
c.506+13G>T Single submitter mucopolysaccharidosis type 3A
c.88+8C>T Single submitter mucopolysaccharidosis type 3A
c.89-18_89-15del Single submitter mucopolysaccharidosis type 3A
c.950-16G>T Single submitter mucopolysaccharidosis type 3A
p.Ala137Val Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala176Thr Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala260= Single submitter mucopolysaccharidosis type 3A
p.Ala334= Single submitter mucopolysaccharidosis type 3A
p.Ala434= Single submitter mucopolysaccharidosis type 3A
p.Ala44Thr Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala482= Single submitter mucopolysaccharidosis type 3A
p.Ala75Val Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg105Gln Single submitter Inborn genetic diseases ⚠
p.Arg245Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg304Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg385His Single submitter Inborn genetic diseases ⚠
p.Arg428His Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg441Gln Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg443Gln Single submitter Inborn genetic diseases ⚠
p.Arg465Gln Single submitter Inborn genetic diseases ⚠
p.Asn274Lys Single submitter mucopolysaccharidosis type 3A ⚠
p.Asp179Asn Single submitter mucopolysaccharidosis type 3A ⚠
p.Asp235His Single submitter mucopolysaccharidosis type 3A ⚠
p.Asp399Asn Single submitter mucopolysaccharidosis type 3A ⚠
p.Asp399His Single submitter mucopolysaccharidosis type 3A ⚠
p.Asp484Asn Single submitter Inborn genetic diseases ⚠
p.Cys183Tyr Single submitter intellectual disability ⚠
p.Gln213Lys Single submitter mucopolysaccharidosis type 3A ⚠
p.Gly251Ala Single submitter mucopolysaccharidosis type 3A ⚠
p.Gly275Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Gly33Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Gly418Asp Single submitter Inborn genetic diseases ⚠
p.Gly485= Single submitter mucopolysaccharidosis type 3A
p.His178= Single submitter mucopolysaccharidosis type 3A
p.His181Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.His381_Arg382insGlnArg Single submitter SGSH-related disorder
p.His84Arg Single submitter SGSH-related disorder ⚠
p.Leu146Pro Single submitter mucopolysaccharidosis type 3A ⚠
p.Leu318Ile Single submitter mucopolysaccharidosis type 3A ⚠
p.Leu461fs Single submitter SGSH-related disorder
p.Phe225Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Phe396Leu Single submitter Inborn genetic diseases ⚠
p.Pro180Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Pro483Leu Single submitter ⚠
p.Pro82Thr Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser144= Single submitter mucopolysaccharidosis type 3A
p.Ser309Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser314= Single submitter mucopolysaccharidosis type 3A
p.Ser327= Single submitter mucopolysaccharidosis type 3A
p.Ser347Phe Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser378= Single submitter mucopolysaccharidosis type 3A
p.Ser37Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser57Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser66Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Thr139Met Single submitter mucopolysaccharidosis type 3A ⚠
p.Thr266= Single submitter mucopolysaccharidosis type 3A
p.Thr321Ala Single submitter mucopolysaccharidosis type 3A ⚠
p.Thr421Met Single submitter mucopolysaccharidosis type 3A ⚠
p.Tyr403= Single submitter mucopolysaccharidosis type 3A
p.Tyr432= Single submitter mucopolysaccharidosis type 3A
p.Tyr439= Single submitter mucopolysaccharidosis type 3A
p.Tyr439Cys Single submitter mucopolysaccharidosis type 3A ⚠
p.Val131Met Single submitter mucopolysaccharidosis type 3A ⚠
p.Val220Leu Single submitter Inborn genetic diseases
p.Val243Ile Single submitter Inborn genetic diseases ⚠
p.Val404Ile Single submitter mucopolysaccharidosis type 3A ⚠

Benign 24

c.250-26C>T Multiple submitters mucopolysaccharidosis type 3A
c.250-72G>A Multiple submitters
c.663+17T>C Multiple submitters mucopolysaccharidosis type 3A
c.664-36T>C Multiple submitters mucopolysaccharidosis type 3A
c.664-39_664-36delinsGC Multiple submitters mucopolysaccharidosis type 3A
c.664-50G>A Multiple submitters mucopolysaccharidosis type 3A
c.746-4A>G Multiple submitters mucopolysaccharidosis type 3A
c.88+194A>G Multiple submitters
c.88+23C>G Multiple submitters
c.949+228C>T Multiple submitters
c.950-295A>G Multiple submitters
c.950-93G>A Multiple submitters
c.*315C>T Multiple submitters mucopolysaccharidosis type 3A
c.*833A>G Multiple submitters mucopolysaccharidosis type 3A
c.*840A>G Multiple submitters mucopolysaccharidosis type 3A
c.*848C>G Multiple submitters mucopolysaccharidosis type 3A
c.*855T>C Multiple submitters mucopolysaccharidosis type 3A
p.Arg456His Multiple submitters mucopolysaccharidosis type 3A
p.Met372Ile Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Met394Ile Multiple submitters mucopolysaccharidosis type 3A
p.Phe225= Multiple submitters mucopolysaccharidosis type 3A
p.Val361Ile Multiple submitters mucopolysaccharidosis type 3A
c.507-129G>A Single submitter
c.*415A>G Single submitter mucopolysaccharidosis type 3A

Benign/Likely benign 12

c.249+25G>T Multiple submitters mucopolysaccharidosis type 3A
c.664-39_664-38del Multiple submitters mucopolysaccharidosis type 3A
c.746-16C>T Multiple submitters mucopolysaccharidosis type 3A
c.89-39G>A Multiple submitters mucopolysaccharidosis type 3A
c.89-45G>A Multiple submitters mucopolysaccharidosis type 3A
c.*201A>T Multiple submitters mucopolysaccharidosis type 3A
p.Ala234Gly Multiple submitters mucopolysaccharidosis type 3A
p.Arg55Cys Multiple submitters mucopolysaccharidosis type 3A ⚠
p.His476= Multiple submitters mucopolysaccharidosis type 3A
p.Phe101= Multiple submitters mucopolysaccharidosis type 3A
p.Tyr174= Multiple submitters mucopolysaccharidosis type 3A
p.Val387Met Multiple submitters mucopolysaccharidosis type 3A ⚠

Likely benign 408

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

c.249+17G>A Multiple submitters mucopolysaccharidosis type 3A
c.249+18G>A Multiple submitters mucopolysaccharidosis type 3A
c.249+19G>A Multiple submitters mucopolysaccharidosis type 3A
c.249+52G>A Multiple submitters mucopolysaccharidosis type 3A
c.250-8G>T Multiple submitters mucopolysaccharidosis type 3A
c.355+11C>T Multiple submitters mucopolysaccharidosis type 3A
c.355+17G>A Multiple submitters mucopolysaccharidosis type 3A
c.356-6G>A Multiple submitters mucopolysaccharidosis type 3A
c.356-7C>T Multiple submitters mucopolysaccharidosis type 3A
c.506+10G>A Multiple submitters mucopolysaccharidosis type 3A
c.506+18T>C Multiple submitters mucopolysaccharidosis type 3A
c.506+9C>T Multiple submitters mucopolysaccharidosis type 3A
c.507-6G>A Multiple submitters mucopolysaccharidosis type 3A
c.507-7C>T Multiple submitters mucopolysaccharidosis type 3A
c.663+13C>T Multiple submitters mucopolysaccharidosis type 3A
c.663+7C>T Multiple submitters mucopolysaccharidosis type 3A
c.663+87A>G Multiple submitters
c.664-111G>A Multiple submitters
c.664-127A>G Multiple submitters
c.664-12C>T Multiple submitters mucopolysaccharidosis type 3A
c.664-13C>T Multiple submitters mucopolysaccharidosis type 3A
c.664-19T>C Multiple submitters mucopolysaccharidosis type 3A
c.745+16C>T Multiple submitters mucopolysaccharidosis type 3A
c.745+19G>A Multiple submitters mucopolysaccharidosis type 3A
c.746-140G>C Multiple submitters
c.89-144C>T Multiple submitters
c.89-4G>A Multiple submitters mucopolysaccharidosis type 3A
c.89-5C>T Multiple submitters mucopolysaccharidosis type 3A
c.950-11G>A Multiple submitters mucopolysaccharidosis type 3A
c.950-183A>G Multiple submitters
p.Ala214Asp Multiple submitters mucopolysaccharidosis type 3A
p.Ala237= Multiple submitters mucopolysaccharidosis type 3A
p.Arg61Cys Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Asn199= Multiple submitters mucopolysaccharidosis type 3A
p.Asp179= Multiple submitters mucopolysaccharidosis type 3A
p.Asp32= Multiple submitters mucopolysaccharidosis type 3A
p.Asp51= Multiple submitters mucopolysaccharidosis type 3A
p.Gly16= Multiple submitters mucopolysaccharidosis type 3A
p.His125= Multiple submitters mucopolysaccharidosis type 3A
p.His368= Multiple submitters mucopolysaccharidosis type 3A
p.His446Arg Multiple submitters mucopolysaccharidosis type 3A
p.Ile398= Multiple submitters mucopolysaccharidosis type 3A
p.Leu109= Multiple submitters mucopolysaccharidosis type 3A
p.Leu158= Multiple submitters mucopolysaccharidosis type 3A
p.Phe457= Multiple submitters mucopolysaccharidosis type 3A
p.Pro108= Multiple submitters mucopolysaccharidosis type 3A
p.Pro128= Multiple submitters mucopolysaccharidosis type 3A
p.Pro133Thr Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Pro22= Multiple submitters mucopolysaccharidosis type 3A
p.Pro288= Multiple submitters mucopolysaccharidosis type 3A
p.Pro329= Multiple submitters mucopolysaccharidosis type 3A
p.Pro331= Multiple submitters mucopolysaccharidosis type 3A
p.Pro395= Multiple submitters mucopolysaccharidosis type 3A
p.Pro455= Multiple submitters mucopolysaccharidosis type 3A
p.Ser280= Multiple submitters mucopolysaccharidosis type 3A
p.Thr319= Multiple submitters mucopolysaccharidosis type 3A
p.Thr340= Multiple submitters mucopolysaccharidosis type 3A
p.Thr421= Multiple submitters mucopolysaccharidosis type 3A
p.Thr453= Multiple submitters mucopolysaccharidosis type 3A
p.Tyr190= Multiple submitters mucopolysaccharidosis type 3A
p.Tyr286= Multiple submitters mucopolysaccharidosis type 3A
p.Tyr333= Multiple submitters mucopolysaccharidosis type 3A
p.Tyr89= Multiple submitters mucopolysaccharidosis type 3A
c.249+10A>G Single submitter mucopolysaccharidosis type 3A
c.249+11A>G Single submitter mucopolysaccharidosis type 3A
c.249+14G>A Single submitter mucopolysaccharidosis type 3A
c.249+14G>T Single submitter mucopolysaccharidosis type 3A
c.249+15G>A Single submitter mucopolysaccharidosis type 3A
c.249+15G>T Single submitter mucopolysaccharidosis type 3A
c.249+16C>T Single submitter mucopolysaccharidosis type 3A
c.249+19G>T Single submitter mucopolysaccharidosis type 3A
c.249+24G>A Single submitter mucopolysaccharidosis type 3A
c.249+26G>T Single submitter mucopolysaccharidosis type 3A
c.249+28G>A Single submitter mucopolysaccharidosis type 3A
c.249+33C>A Single submitter
c.249+8G>A Single submitter mucopolysaccharidosis type 3A
c.250-10T>C Single submitter mucopolysaccharidosis type 3A
c.250-13C>T Single submitter mucopolysaccharidosis type 3A
c.250-14G>A Single submitter mucopolysaccharidosis type 3A
c.250-15C>G Single submitter mucopolysaccharidosis type 3A
c.250-17T>C Single submitter mucopolysaccharidosis type 3A
c.250-19C>T Single submitter mucopolysaccharidosis type 3A
c.250-5G>C Single submitter mucopolysaccharidosis type 3A
c.250-7C>T Single submitter mucopolysaccharidosis type 3A
c.355+12G>A Single submitter mucopolysaccharidosis type 3A
c.355+16C>G Single submitter mucopolysaccharidosis type 3A
c.355+16C>T Single submitter mucopolysaccharidosis type 3A
c.355+20G>A Single submitter mucopolysaccharidosis type 3A
c.355+9C>T Single submitter mucopolysaccharidosis type 3A
c.356-12C>A Single submitter mucopolysaccharidosis type 3A
c.356-12C>T Single submitter mucopolysaccharidosis type 3A
c.356-14C>G Single submitter mucopolysaccharidosis type 3A
c.356-14del Single submitter mucopolysaccharidosis type 3A
c.356-16CT[2] Single submitter mucopolysaccharidosis type 3A
c.356-18G>A Single submitter mucopolysaccharidosis type 3A
c.356-18G>T Single submitter mucopolysaccharidosis type 3A
c.356-19G>C Single submitter mucopolysaccharidosis type 3A
c.356-5C>T Single submitter mucopolysaccharidosis type 3A
c.506+10G>C Single submitter mucopolysaccharidosis type 3A
c.506+11G>A Single submitter mucopolysaccharidosis type 3A
c.506+12G>A Single submitter mucopolysaccharidosis type 3A
c.506+13G>A Single submitter mucopolysaccharidosis type 3A
c.506+14C>A Single submitter mucopolysaccharidosis type 3A
c.506+14C>G Single submitter mucopolysaccharidosis type 3A
c.506+14C>T Single submitter mucopolysaccharidosis type 3A
c.506+15C>T Single submitter mucopolysaccharidosis type 3A
c.506+16C>T Single submitter mucopolysaccharidosis type 3A
c.506+19G>A Single submitter mucopolysaccharidosis type 3A
c.506+7G>T Single submitter mucopolysaccharidosis type 3A
c.506+9C>G Single submitter mucopolysaccharidosis type 3A
c.507-10del Single submitter mucopolysaccharidosis type 3A
c.507-10T>G Single submitter mucopolysaccharidosis type 3A
c.507-12C>T Single submitter mucopolysaccharidosis type 3A
c.507-14C>A Single submitter mucopolysaccharidosis type 3A
c.507-14C>T Single submitter mucopolysaccharidosis type 3A
c.507-15C>A Single submitter mucopolysaccharidosis type 3A
c.507-18G>A Single submitter mucopolysaccharidosis type 3A
c.507-20A>G Single submitter mucopolysaccharidosis type 3A
c.507-38G>A Single submitter
c.507-6G>T Single submitter mucopolysaccharidosis type 3A
c.663+10C>T Single submitter mucopolysaccharidosis type 3A
c.663+15C>T Single submitter mucopolysaccharidosis type 3A
c.663+17_663+18inv Single submitter mucopolysaccharidosis type 3A
c.663+17T>G Single submitter mucopolysaccharidosis type 3A
c.663+20G>A Single submitter mucopolysaccharidosis type 3A
c.663+4G>A Single submitter
c.663+8G>A Single submitter mucopolysaccharidosis type 3A
c.663+9G>T Single submitter mucopolysaccharidosis type 3A
c.664-10C>T Single submitter mucopolysaccharidosis type 3A
c.664-11G>A Single submitter mucopolysaccharidosis type 3A
c.664-15C>T Single submitter mucopolysaccharidosis type 3A
c.664-20C>G Single submitter mucopolysaccharidosis type 3A
c.664-4C>A Single submitter mucopolysaccharidosis type 3A
c.664-4C>G Single submitter mucopolysaccharidosis type 3A
c.664-4C>T Single submitter mucopolysaccharidosis type 3A
c.664-7G>A Single submitter mucopolysaccharidosis type 3A
c.745+10C>T Single submitter mucopolysaccharidosis type 3A
c.745+11A>G Single submitter mucopolysaccharidosis type 3A
c.745+13A>T Single submitter mucopolysaccharidosis type 3A
c.745+15C>A Single submitter mucopolysaccharidosis type 3A
c.745+17G>A Single submitter mucopolysaccharidosis type 3A
c.745+18G>A Single submitter mucopolysaccharidosis type 3A
c.745+20C>T Single submitter mucopolysaccharidosis type 3A
c.745+79C>T Single submitter
c.745+9G>A Single submitter mucopolysaccharidosis type 3A
c.746-10C>T Single submitter mucopolysaccharidosis type 3A
c.746-11_746-10del Single submitter mucopolysaccharidosis type 3A
c.746-11C>T Single submitter mucopolysaccharidosis type 3A
c.746-12C>G Single submitter mucopolysaccharidosis type 3A
c.746-13C>A Single submitter mucopolysaccharidosis type 3A
c.746-13C>T Single submitter mucopolysaccharidosis type 3A
c.746-15G>C Single submitter mucopolysaccharidosis type 3A
c.746-18C>G Single submitter mucopolysaccharidosis type 3A
c.746-18C>T Single submitter mucopolysaccharidosis type 3A
c.746-20T>C Single submitter mucopolysaccharidosis type 3A
c.746-5C>T Single submitter mucopolysaccharidosis type 3A
c.746-9T>C Single submitter mucopolysaccharidosis type 3A
c.88+10G>A Single submitter mucopolysaccharidosis type 3A
c.88+13G>A Single submitter mucopolysaccharidosis type 3A
c.88+14C>T Single submitter mucopolysaccharidosis type 3A
c.88+15C>A Single submitter mucopolysaccharidosis type 3A
c.88+16G>A Single submitter mucopolysaccharidosis type 3A
c.88+17C>A Single submitter mucopolysaccharidosis type 3A
c.88+18C>T Single submitter mucopolysaccharidosis type 3A
c.88+9C>G Single submitter mucopolysaccharidosis type 3A
c.89-10C>T Single submitter mucopolysaccharidosis type 3A
c.89-12C>T Single submitter mucopolysaccharidosis type 3A
c.89-16C>G Single submitter mucopolysaccharidosis type 3A
c.89-16C>T Single submitter mucopolysaccharidosis type 3A
c.89-17T>A Single submitter mucopolysaccharidosis type 3A
c.89-18G>C Single submitter mucopolysaccharidosis type 3A
c.89-19T>C Single submitter mucopolysaccharidosis type 3A
c.89-24CT[2] Single submitter mucopolysaccharidosis type 3A
c.89-8T>G Single submitter mucopolysaccharidosis type 3A
c.89-9C>G Single submitter mucopolysaccharidosis type 3A
c.89-9C>T Single submitter mucopolysaccharidosis type 3A
c.949+10T>C Single submitter mucopolysaccharidosis type 3A
c.949+12T>A Single submitter mucopolysaccharidosis type 3A
c.949+13_949+14del Single submitter mucopolysaccharidosis type 3A
c.949+15_949+18del Single submitter mucopolysaccharidosis type 3A
c.949+18T>C Single submitter mucopolysaccharidosis type 3A
c.949+20C>T Single submitter mucopolysaccharidosis type 3A
c.949+7C>T Single submitter mucopolysaccharidosis type 3A
c.949+9_949+10del Single submitter mucopolysaccharidosis type 3A
c.949+92T>A Single submitter
c.949+9T>G Single submitter mucopolysaccharidosis type 3A
c.950-11G>C Single submitter mucopolysaccharidosis type 3A
c.950-12C>T Single submitter mucopolysaccharidosis type 3A
c.950-13G>A Single submitter mucopolysaccharidosis type 3A
c.950-14C>T Single submitter mucopolysaccharidosis type 3A
c.950-9C>G Single submitter mucopolysaccharidosis type 3A
c.950-9C>T Single submitter mucopolysaccharidosis type 3A
p.Ala10_Leu11= Single submitter mucopolysaccharidosis type 3A
p.Ala137= Single submitter mucopolysaccharidosis type 3A
p.Ala176= Single submitter mucopolysaccharidosis type 3A
p.Ala232= Single submitter mucopolysaccharidosis type 3A
p.Ala234= Single submitter mucopolysaccharidosis type 3A
p.Ala238= Single submitter mucopolysaccharidosis type 3A
p.Ala25= Single submitter mucopolysaccharidosis type 3A
p.Ala291= Single submitter mucopolysaccharidosis type 3A
p.Ala311= Single submitter mucopolysaccharidosis type 3A
p.Ala351= Single submitter mucopolysaccharidosis type 3A
p.Ala354= Single submitter mucopolysaccharidosis type 3A
p.Ala39= Single submitter mucopolysaccharidosis type 3A
p.Ala417= Single submitter mucopolysaccharidosis type 3A
p.Ala452= Single submitter mucopolysaccharidosis type 3A
p.Ala458= Single submitter mucopolysaccharidosis type 3A
p.Ala52Thr Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala52Val Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala63= Single submitter mucopolysaccharidosis type 3A
p.Ala7= Single submitter mucopolysaccharidosis type 3A
p.Ala75= Single submitter mucopolysaccharidosis type 3A
p.Arg117= Single submitter mucopolysaccharidosis type 3A
p.Arg150= Single submitter mucopolysaccharidosis type 3A
p.Arg160= Single submitter mucopolysaccharidosis type 3A
p.Arg19= Single submitter mucopolysaccharidosis type 3A
p.Arg21= Single submitter mucopolysaccharidosis type 3A
p.Arg23= Single submitter mucopolysaccharidosis type 3A
p.Arg233= Single submitter mucopolysaccharidosis type 3A
p.Arg346= Single submitter mucopolysaccharidosis type 3A
p.Arg377= Single submitter mucopolysaccharidosis type 3A
p.Arg428= Single submitter mucopolysaccharidosis type 3A
p.Arg433= Single submitter mucopolysaccharidosis type 3A
p.Arg435= Single submitter mucopolysaccharidosis type 3A
p.Arg441= Single submitter mucopolysaccharidosis type 3A
p.Arg456= Single submitter mucopolysaccharidosis type 3A
p.Arg465= Single submitter mucopolysaccharidosis type 3A
p.Arg56= Single submitter mucopolysaccharidosis type 3A
p.Arg61= Single submitter mucopolysaccharidosis type 3A
p.Arg74= Single submitter mucopolysaccharidosis type 3A
p.Asn228= Single submitter mucopolysaccharidosis type 3A
p.Asn264= Single submitter mucopolysaccharidosis type 3A
p.Asn274= Single submitter mucopolysaccharidosis type 3A
p.Asn284= Single submitter mucopolysaccharidosis type 3A
p.Asn391= Single submitter mucopolysaccharidosis type 3A
p.Asn42= Single submitter mucopolysaccharidosis type 3A
p.Asn500= Single submitter mucopolysaccharidosis type 3A
p.Asn86= Single submitter mucopolysaccharidosis type 3A
p.Asp216= Single submitter mucopolysaccharidosis type 3A
p.Asp219= Single submitter mucopolysaccharidosis type 3A
p.Asp259= Single submitter mucopolysaccharidosis type 3A
p.Asp31= Single submitter mucopolysaccharidosis type 3A
p.Asp399= Single submitter mucopolysaccharidosis type 3A
p.Asp401= Single submitter mucopolysaccharidosis type 3A
p.Asp426= Single submitter mucopolysaccharidosis type 3A
p.Asp440= Single submitter mucopolysaccharidosis type 3A
p.Asp444= Single submitter mucopolysaccharidosis type 3A
p.Asp477= Single submitter mucopolysaccharidosis type 3A
p.Asp484= Single submitter mucopolysaccharidosis type 3A
p.Asp94= Single submitter mucopolysaccharidosis type 3A
p.Cys481= Single submitter mucopolysaccharidosis type 3A
p.Cys70= Single submitter mucopolysaccharidosis type 3A
p.Cys8= Single submitter mucopolysaccharidosis type 3A
p.Gln147= Single submitter mucopolysaccharidosis type 3A
p.Gln365= Single submitter mucopolysaccharidosis type 3A
p.Gln380= Single submitter mucopolysaccharidosis type 3A
p.Glu292= Single submitter mucopolysaccharidosis type 3A
p.Glu300= Single submitter mucopolysaccharidosis type 3A
p.Glu310= Single submitter mucopolysaccharidosis type 3A
p.Glu353= Single submitter mucopolysaccharidosis type 3A
p.Glu36= Single submitter mucopolysaccharidosis type 3A
p.Glu437= Single submitter mucopolysaccharidosis type 3A
p.Glu447= Single submitter mucopolysaccharidosis type 3A
p.Glu462= Single submitter mucopolysaccharidosis type 3A
p.Glu474= Single submitter mucopolysaccharidosis type 3A
p.Glu489= Single submitter mucopolysaccharidosis type 3A
p.Glu501= Single submitter mucopolysaccharidosis type 3A
p.Gly115= Single submitter mucopolysaccharidosis type 3A
p.Gly119= Single submitter mucopolysaccharidosis type 3A
p.Gly127= Single submitter mucopolysaccharidosis type 3A
p.Gly244= Single submitter mucopolysaccharidosis type 3A
p.Gly261= Single submitter mucopolysaccharidosis type 3A
p.Gly337= Single submitter mucopolysaccharidosis type 3A
p.Gly34= Single submitter mucopolysaccharidosis type 3A
p.Gly345= Single submitter mucopolysaccharidosis type 3A
p.Gly363= Single submitter mucopolysaccharidosis type 3A
p.Gly38= Single submitter mucopolysaccharidosis type 3A
p.Gly87= Single submitter mucopolysaccharidosis type 3A
p.Gly90= Single submitter mucopolysaccharidosis type 3A
p.His185= Single submitter mucopolysaccharidosis type 3A
p.His383= Single submitter mucopolysaccharidosis type 3A
p.His446= Single submitter mucopolysaccharidosis type 3A
p.His92= Single submitter mucopolysaccharidosis type 3A
p.His96= Single submitter mucopolysaccharidosis type 3A
p.Ile120= Single submitter mucopolysaccharidosis type 3A
p.Ile121= Single submitter mucopolysaccharidosis type 3A
p.Ile335= Single submitter mucopolysaccharidosis type 3A
p.Ile45= Single submitter mucopolysaccharidosis type 3A
p.Leu107= Single submitter mucopolysaccharidosis type 3A
p.Leu11= Single submitter mucopolysaccharidosis type 3A
p.Leu110= Single submitter mucopolysaccharidosis type 3A
p.Leu111= Single submitter mucopolysaccharidosis type 3A
p.Leu12= Single submitter mucopolysaccharidosis type 3A
p.Leu13= Single submitter mucopolysaccharidosis type 3A
p.Leu15= Single submitter mucopolysaccharidosis type 3A
p.Leu157= Single submitter mucopolysaccharidosis type 3A
p.Leu173= Single submitter mucopolysaccharidosis type 3A
p.Leu218= Single submitter mucopolysaccharidosis type 3A
p.Leu252= Single submitter mucopolysaccharidosis type 3A
p.Leu257= Single submitter mucopolysaccharidosis type 3A

Uncertain significance 339

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

c.356-3C>G Multiple submitters mucopolysaccharidosis type 3A
c.*69C>T Multiple submitters mucopolysaccharidosis type 3A
p.Ala176Asp Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Ala176Gly Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Ala238Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala260Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala30Val Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Ala311Asp Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Ala351Val Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Ala359Val Multiple submitters Inborn genetic diseases ⚠
p.Ala39Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala434Val Multiple submitters Inborn genetic diseases ⚠
p.Ala482Ser Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Ala75Thr Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg117His Multiple submitters Inborn genetic diseases ⚠
p.Arg160Trp Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg206His Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg233Gly Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg23Gly Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg23Trp Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg258Gly Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg258His Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg304Cys Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg346Trp Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg377Leu Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg382Gln Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg385Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg414His Multiple submitters Inborn genetic diseases ⚠
p.Arg435His Multiple submitters Inborn genetic diseases ⚠
p.Arg435Leu Multiple submitters Inborn genetic diseases ⚠
p.Arg441Trp Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg443Trp Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg465Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg55His Multiple submitters Inborn genetic diseases ⚠
p.Arg56Cys Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Arg61His Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Asn228Ser Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Asn391_Phe392del Multiple submitters mucopolysaccharidosis type 3A
p.Asn41Lys Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Asn500Ser Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Asn99Lys Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Asp102Asn Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Asp168Ala Multiple submitters Inborn genetic diseases ⚠
p.Asp440Asn Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Asp454Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp484fs Multiple submitters mucopolysaccharidosis type 3A
p.Cys495Ser Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Gln147Arg Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Gln213Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln472His Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Gln93Arg Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Glu195Asp Multiple submitters Inborn genetic diseases ⚠
p.Glu488Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly115Val Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Gly244Ser Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Gly261Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly281Cys Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Gly281Ser Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Gly306Cys Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Gly485Ser Multiple submitters mucopolysaccharidosis type 3A ⚠
p.His178Asp Multiple submitters mucopolysaccharidosis type 3A ⚠
p.His92Gln Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Ile322Val Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Leu468Pro Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Lys103= Multiple submitters mucopolysaccharidosis type 3A
p.Lys156Asn Multiple submitters Inborn genetic diseases ⚠
p.Phe270Leu Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Phe362Val Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Phe98Leu Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Pro133Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro170Ala Multiple submitters Inborn genetic diseases ⚠
p.Pro230Leu Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Pro230Ser Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Pro288Leu Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Pro299Leu Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Pro350Leu Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Pro397Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro420Leu Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Pro48Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro497Leu Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Ser71Pro Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Thr211Ile Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Thr241Ile Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Thr319Met Multiple submitters Inborn genetic diseases ⚠
p.Thr321Ile Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Thr415Ser Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Trp423Ser Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Trp473Cys Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Tyr240Asn Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Tyr40Ser Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Tyr424His Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Val126Met Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Val145Ile Multiple submitters Inborn genetic diseases ⚠
p.Val159Ile Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Val175Ile Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Val220Met Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Val226Ile Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Val268Ala Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Val379Met Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Val387Leu Multiple submitters mucopolysaccharidosis type 3A ⚠
p.Val486Ile Multiple submitters Inborn genetic diseases ⚠
c.506+3A>G Single submitter mucopolysaccharidosis type 3A
c.506+4T>A Single submitter mucopolysaccharidosis type 3A
c.663+3A>G Single submitter mucopolysaccharidosis type 3A
c.663+3dup Single submitter mucopolysaccharidosis type 3A
c.746-15G>A Single submitter mucopolysaccharidosis type 3A
c.746-5_746-4inv Single submitter mucopolysaccharidosis type 3A
c.746-6C>G Single submitter mucopolysaccharidosis type 3A
c.88+5G>C Single submitter mucopolysaccharidosis type 3A
c.949+4_949+5insA Single submitter mucopolysaccharidosis type 3A
c.950-131C>T Single submitter mucopolysaccharidosis type 3A
c.950-65C>T Single submitter mucopolysaccharidosis type 3A
c.*1008C>T Single submitter mucopolysaccharidosis type 3A
c.*1078A>G Single submitter mucopolysaccharidosis type 3A
c.*1098G>A Single submitter mucopolysaccharidosis type 3A
c.*126G>A Single submitter mucopolysaccharidosis type 3A
c.*232T>C Single submitter mucopolysaccharidosis type 3A
c.*309G>A Single submitter mucopolysaccharidosis type 3A
c.*369C>T Single submitter mucopolysaccharidosis type 3A
c.*378G>A Single submitter mucopolysaccharidosis type 3A
c.*452G>A Single submitter mucopolysaccharidosis type 3A
c.*459C>T Single submitter mucopolysaccharidosis type 3A
c.*471G>A Single submitter mucopolysaccharidosis type 3A
c.*499C>T Single submitter mucopolysaccharidosis type 3A
c.*501C>T Single submitter mucopolysaccharidosis type 3A
c.*506C>T Single submitter mucopolysaccharidosis type 3A
c.*657C>T Single submitter mucopolysaccharidosis type 3A
c.*712G>T Single submitter mucopolysaccharidosis type 3A
c.*834A>G Single submitter mucopolysaccharidosis type 3A
c.*890G>A Single submitter mucopolysaccharidosis type 3A
c.*891A>G Single submitter mucopolysaccharidosis type 3A
c.*93A>G Single submitter mucopolysaccharidosis type 3A
c.*95A>T Single submitter mucopolysaccharidosis type 3A
c.*978C>T Single submitter mucopolysaccharidosis type 3A
c.*994G>A Single submitter mucopolysaccharidosis type 3A
p.Ala20Pro Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala238Val Single submitter ⚠
p.Ala30= Single submitter mucopolysaccharidosis type 3A
p.Ala30Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala30Thr Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala354Pro Single submitter ⚠
p.Ala39Val Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala46Thr Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala482Thr Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala482Val Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala63Val Single submitter mucopolysaccharidosis type 3A ⚠
p.Ala75Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg105Trp Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg117Cys Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg160Gln Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg160Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg169Trp Single submitter ⚠
p.Arg19Pro Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg21His Single submitter Inborn genetic diseases ⚠
p.Arg21Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg21Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg233Gln Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg233Leu Single submitter Inborn genetic diseases ⚠
p.Arg258Cys Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg282Lys Single submitter ⚠
p.Arg304His Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg304Pro Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg346Gln Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg382Pro Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg382Trp Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg414Cys Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg414Gly Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg414Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg428Cys Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg435Cys Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg456Cys Single submitter mucopolysaccharidosis type 3A ⚠
p.Arg61Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Asn274Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Asn391Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Asn41Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Asn42del Single submitter mucopolysaccharidosis type 3A
p.Asn62Asp Single submitter mucopolysaccharidosis type 3A ⚠
p.Asn62Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Asn99Asp Single submitter Inborn genetic diseases ⚠
p.Asp265Asn Single submitter mucopolysaccharidosis type 3A ⚠
p.Asp265Gly Single submitter Inborn genetic diseases ⚠
p.Asp32Glu Single submitter mucopolysaccharidosis type 3A ⚠
p.Asp410Gly Single submitter mucopolysaccharidosis type 3A ⚠
p.Asp440Glu Single submitter mucopolysaccharidosis type 3A ⚠
p.Asp440Gly Single submitter ⚠
p.Asp454Gly Single submitter mucopolysaccharidosis type 3A ⚠
p.Asp454Val Single submitter mucopolysaccharidosis type 3A ⚠
p.Asp51Asn Single submitter mucopolysaccharidosis type 3A ⚠
p.Cys18Gly Single submitter mucopolysaccharidosis type 3A ⚠
p.Cys194Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Cys8Tyr Single submitter mucopolysaccharidosis type 3A ⚠
p.Gln307His Single submitter Inborn genetic diseases ⚠
p.Gln449Lys Single submitter mucopolysaccharidosis type 3A ⚠
p.Gln472fs Single submitter mucopolysaccharidosis type 3A
p.Gln494Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Gln496Ter Single submitter mucopolysaccharidosis type 3A
p.Gln83His Single submitter mucopolysaccharidosis type 3A ⚠
p.Glu129Gln Single submitter mucopolysaccharidosis type 3A ⚠
p.Glu201Gly Single submitter Inborn genetic diseases ⚠
p.Glu300Ala Single submitter mucopolysaccharidosis type 3A ⚠
p.Glu310Lys Single submitter mucopolysaccharidosis type 3A ⚠
p.Glu489del Single submitter mucopolysaccharidosis type 3A
p.Glu501Gln Single submitter Inborn genetic diseases ⚠
p.Gly115Ala Single submitter mucopolysaccharidosis type 3A ⚠
p.Gly122Trp Single submitter mucopolysaccharidosis type 3A ⚠
p.Gly127Glu Single submitter mucopolysaccharidosis type 3A ⚠
p.Gly203Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Gly249Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Gly251Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Gly33Glu Single submitter mucopolysaccharidosis type 3A ⚠
p.Gly418Ala Single submitter mucopolysaccharidosis type 3A ⚠
p.Gly90Ala Single submitter ⚠
p.His342Asp Single submitter mucopolysaccharidosis type 3A ⚠
p.His383Asn Single submitter mucopolysaccharidosis type 3A ⚠
p.His388Tyr Single submitter mucopolysaccharidosis type 3A ⚠
p.His429Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.His446Gln Single submitter mucopolysaccharidosis type 3A ⚠
p.His49Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.His49Gln Single submitter ⚠
p.His96Gln Single submitter mucopolysaccharidosis type 3A ⚠
p.Ile120Asn Single submitter mucopolysaccharidosis type 3A
p.Ile155Met Single submitter ⚠
p.Ile269Thr Single submitter ⚠
p.Ile276Met Single submitter mucopolysaccharidosis type 3A ⚠
p.Ile335Thr Single submitter mucopolysaccharidosis type 3A ⚠
p.Ile335Val Single submitter Inborn genetic diseases ⚠
p.Leu110Gln Single submitter ⚠
p.Leu111_Ser112insLeu Single submitter
p.Leu11Val Single submitter Inborn genetic diseases ⚠
p.Leu12Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Leu12Val Single submitter ⚠
p.Leu13Pro Single submitter mucopolysaccharidosis type 3A ⚠
p.Leu17dup Single submitter mucopolysaccharidosis type 3A
p.Leu29= Single submitter mucopolysaccharidosis type 3A
p.Leu318Phe Single submitter mucopolysaccharidosis type 3A ⚠
p.Leu343Phe Single submitter mucopolysaccharidosis type 3A ⚠
p.Leu348Phe Single submitter mucopolysaccharidosis type 3A ⚠
p.Leu348Pro Single submitter mucopolysaccharidosis type 3A ⚠
p.Leu349_Leu357del Single submitter mucopolysaccharidosis type 3A
p.Leu411Phe Single submitter mucopolysaccharidosis type 3A
p.Leu427_Arg428del Single submitter mucopolysaccharidosis type 3A
p.Leu491Arg Single submitter Inborn genetic diseases ⚠
p.Leu491Phe Single submitter Inborn genetic diseases ⚠
p.Leu59Phe Single submitter mucopolysaccharidosis type 3A ⚠
p.Leu78Phe Single submitter mucopolysaccharidosis type 3A ⚠
p.Leu91Pro Single submitter mucopolysaccharidosis type 3A ⚠
p.Lys103Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Lys339Glu Single submitter mucopolysaccharidosis type 3A ⚠
p.Met246Val Single submitter mucopolysaccharidosis type 3A ⚠
p.Met376Thr Single submitter mucopolysaccharidosis type 3A
p.Met88Ile Single submitter mucopolysaccharidosis type 3A ⚠
p.Phe136Ile Single submitter mucopolysaccharidosis type 3A ⚠
p.Phe392Leu Single submitter ⚠
p.Phe402Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Pro108_Leu110del Single submitter mucopolysaccharidosis type 3A
p.Pro108Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Pro133Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Pro188His Single submitter Inborn genetic diseases ⚠
p.Pro188Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Pro208Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Pro22Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Pro293Arg Single submitter ⚠
p.Pro293Leu Single submitter ⚠
p.Pro293Thr Single submitter ⚠
p.Pro356Thr Single submitter mucopolysaccharidosis type 3A ⚠
p.Pro395Leu Single submitter ⚠
p.Pro395Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Pro455Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Pro82Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser100Phe Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser100Tyr Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser112Thr Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser144Thr Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser314Asn Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser327Ala Single submitter Inborn genetic diseases ⚠
p.Ser327Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser338Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser364Arg Single submitter ⚠
p.Ser364Gly Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser442Asn Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser492Pro Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser57Gly Single submitter mucopolysaccharidosis type 3A ⚠
p.Ser69Gly Single submitter mucopolysaccharidosis type 3A ⚠
p.Thr118Ala Single submitter Inborn genetic diseases ⚠
p.Thr130Ile Single submitter mucopolysaccharidosis type 3A ⚠
p.Thr139Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Thr192Ala Single submitter mucopolysaccharidosis type 3A ⚠
p.Thr241Ala Single submitter mucopolysaccharidosis type 3A ⚠
p.Thr344Ala Single submitter ⚠
p.Thr360Asn Single submitter mucopolysaccharidosis type 3A ⚠
p.Thr448Ala Single submitter Inborn genetic diseases ⚠
p.Thr448Ile Single submitter mucopolysaccharidosis type 3A ⚠
p.Thr453Ser Single submitter Inborn genetic diseases ⚠
p.Thr475Ser Single submitter mucopolysaccharidosis type 3A ⚠
p.Thr47Ile Single submitter mucopolysaccharidosis type 3A ⚠
p.Trp210Arg Single submitter mucopolysaccharidosis type 3A ⚠
p.Trp358Leu Single submitter mucopolysaccharidosis type 3A ⚠
p.Tyr215His Single submitter mucopolysaccharidosis type 3A ⚠
p.Tyr312Cys Single submitter mucopolysaccharidosis type 3A ⚠
p.Tyr312Phe Single submitter mucopolysaccharidosis type 3A ⚠