ARSB — 863 ClinVar variants

All ClinVar germline ARSB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 238 flagged for review →

68 Pathogenic · 50 Pathogenic/Likely pathogenic · 92 Likely pathogenic · 51 Conflicting · 56 Benign · 7 Benign/Likely benign · 269 Likely benign · 270 Uncertain significance

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

⚑ Evidence disagreements 238

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 5

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

ARSB p.Arg152Gln Likely pathogenic Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Arg152Trp Pathogenic Multiple submitters
mucopolysaccharidosis type 6
ARSB p.His430Arg Likely pathogenic Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Gly137Ser Likely pathogenic Single submitter
mucopolysaccharidosis type 6
ARSB p.Ile184Thr Pathogenic Single submitter
mucopolysaccharidosis type 6

Predictors agree, ClinVar conflicts 23

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

ARSB p.Ala237Asp Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg102Ser Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg106His Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Asp300Glu Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Cys521Tyr Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Gln104His Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Gly167Arg Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Gly308Arg Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Gly308Glu Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Gly79Arg Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.His147Pro Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Ile220Val Conflicting Single submitter
Inborn genetic diseases
ARSB p.Leu236Pro Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Leu498Pro Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Leu72Gln Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Leu98Pro Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Phe62Tyr Conflicting Single submitter
Inborn genetic diseases
ARSB p.Pro130Leu Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Pro313Ser Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Ser334Ile Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Ser65Phe Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Trp312Arg Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Trp353Arg Conflicting Single submitter
mucopolysaccharidosis type 6

Predictors lean, ClinVar uncertain 96

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

ARSB p.Ala186Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Ala516Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Asn225Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Asn262Asp Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Asp416Val Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Gly268Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.His264Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Ile184Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Pro228Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Pro420Ala Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Ser403Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Ser42Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Ala283Pro Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Ala411Thr Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Ala411Val Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Ala431Asp Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Ala431Pro Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg16Gly Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg315Gly Uncertain significance Single submitter
ARSB p.Arg345Gln Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg388Thr Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg434Ile Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg489Lys Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg4Leu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Asn344Lys Uncertain significance Single submitter
ARSB p.Asn366Asp Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Asp163Val Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Asp372Gly Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Asp401Ala Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Asp486Val Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Asp518Glu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Asp54His Uncertain significance Single submitter
ARSB p.Cys121Arg Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Cys91Tyr Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Gln104Arg Uncertain significance Single submitter
ARSB p.Gln239Arg Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Gln88His Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Gln97His Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Glu173Lys Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Glu229Lys Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Glu490Lys Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Gly137Val Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Gly448Ser Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Gly56Asp Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Gly78Ser Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.His111Pro Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.His242Pro Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.His349Leu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.His430Asn Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.His506Arg Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Leu238His Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Leu306Ser Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Leu321Arg Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Lys145Arg Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Lys230Arg Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Lys439Glu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Lys524Glu Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Met209Leu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Met269Thr Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Met273Leu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Phe297Leu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Phe399Cys Uncertain significance Single submitter
ARSB p.Pro116His Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Pro15Ala Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Pro3Ser Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Pro404Leu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Pro463Thr Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Pro531Arg Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Pro93Leu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Pro93Ser Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Ser240Phe Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Ser409Arg Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Ser464Leu Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Ser465Leu Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Thr224Ser Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Thr299Ile Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Thr469Ala Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Thr87Arg Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Thr92Ala Uncertain significance Single submitter
ARSB p.Trp146Arg Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Trp146Leu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Trp146Ser Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Trp450Leu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Tyr138Cys Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Tyr175Asp Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Val280Ile Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Val326Ile Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Val358Leu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Val48Ala Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Asn311Lys Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Asp480Tyr Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Lys217Glu Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Lys470Asn Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Met273Arg Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Thr100Pro Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Tyr85Asp Uncertain significance No assertion criteria
mucopolysaccharidosis type 6

Predictors split 114

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

ARSB p.Ala136Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Arg102His Likely pathogenic Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Arg160Gln Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Arg180Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Arg180His Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Arg315Gln Pathogenic/Likely pathogenic Multiple submitters
ARSB-related disorder
ARSB p.Arg501His Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Cys117Arg Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Gly137Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Gly309Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.His485Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Pro10Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Pro25Gln Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Pro387Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Pro397Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Pro3Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Ser384Asn Benign Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Thr216Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Tyr175His Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Tyr235Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Val342Met Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Val358Met Benign Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Val376Met Benign Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Val495Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 6
ARSB p.Val512Met Uncertain significance Multiple submitters
Inborn genetic diseases
ARSB p.Ala361Ser Benign Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg106Cys Uncertain significance Single submitter
ARSB p.Arg152Leu Uncertain significance Single submitter
ARSB p.Arg159Cys Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg191Gln Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg327Gln Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg345Trp Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg479Trp Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg484Gly Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg484Thr Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg520Cys Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg520His Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Asn291Lys Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Asn310Asp Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Asn394Ser Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Asn458Ser Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Asp125Gly Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Asp174Asn Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Asp198Gly Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Asp375Asn Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Asp401Gly Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Asp466Gly Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Asp486Glu Likely pathogenic Single submitter
mucopolysaccharidosis type 6
ARSB p.Cys117Tyr Likely pathogenic Single submitter
mucopolysaccharidosis type 6
ARSB p.Cys155Tyr Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Cys447Phe Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Cys447Ser Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Gln131His Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Gly12Asp Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Gly446Arg Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Gly446Ser Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Gly530Val Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.His364Tyr Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.His393Tyr Uncertain significance Single submitter
ARSB p.His46Tyr Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Ile223Val Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Ile296Leu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Leu252Trp Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Leu357Val Likely benign Single submitter
mucopolysaccharidosis type 6
ARSB p.Leu472Arg Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Leu47Met Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Leu81Phe Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Leu82Val Likely pathogenic Single submitter
mucopolysaccharidosis type 6
ARSB p.Leu98Met Uncertain significance Single submitter
ARSB p.Lys134Arg Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Lys343Met Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Lys497Asn Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Met142Ile Uncertain significance Single submitter
ARSB p.Met150Val Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Phe399Leu Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Pro227Gln Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Pro445Leu Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Pro453Leu Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Pro467Thr Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Pro481Leu Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Ser417Phe Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Ser500Phe Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Ser96Gly Uncertain significance Single submitter
ARSB p.Thr100Ala Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Thr140Pro Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Thr212Ile Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Thr305Ile Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Thr379Ser Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Thr442Met Conflicting Single submitter
mucopolysaccharidosis type 6
ARSB p.Thr471Ala Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Tyr206Cys Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Tyr255Cys Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Tyr266Cys Likely pathogenic Single submitter
mucopolysaccharidosis type 6
ARSB p.Val22Asp Uncertain significance Single submitter
Inborn genetic diseases
ARSB p.Val294Met Uncertain significance Single submitter
ARSB p.Val400Leu Uncertain significance Single submitter
mucopolysaccharidosis type 6
ARSB p.Arg317Gly Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Arg43Trp Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Arg66Cys Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Asn458Lys Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Gly64Ser Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.His46Asn Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.His63Tyr Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Leu502Ile Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Lys134Thr Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Lys153Glu Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Phe166Ser Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Pro254Ser Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Pro34Leu Uncertain significance No assertion criteria
ARSB p.Pro370Leu Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Thr224Ile Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Val277Gly Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Val326Leu Uncertain significance No assertion criteria
mucopolysaccharidosis type 6
ARSB p.Val329Met Uncertain significance No assertion criteria
mucopolysaccharidosis type 6

All ARSB variants

Pathogenic 68

c.1142+1G>A Multiple submitters mucopolysaccharidosis type 6
c.1142+1G>T Multiple submitters mucopolysaccharidosis type 6
c.1142+2T>C Multiple submitters mucopolysaccharidosis type 6
c.1143-1G>C Multiple submitters mucopolysaccharidosis type 6
p.Ala39fs Multiple submitters mucopolysaccharidosis type 6
p.Arg152Trp Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Arg160Ter Multiple submitters mucopolysaccharidosis type 6
p.Arg191Ter Multiple submitters mucopolysaccharidosis type 1
p.Arg197Ter Multiple submitters mucopolysaccharidosis type 6
p.Arg327Ter Multiple submitters mucopolysaccharidosis type 6
p.Gln88Ter Multiple submitters mucopolysaccharidosis type 6
p.Leu321Pro Multiple submitters mucopolysaccharidosis type 6
p.Pro248fs Multiple submitters mucopolysaccharidosis type 6
p.Thr526fs Multiple submitters mucopolysaccharidosis type 6
p.Trp322Ter Multiple submitters mucopolysaccharidosis type 6
p.Tyr210Cys Multiple submitters metachromatic leukodystrophy
p.Tyr251Ter Multiple submitters mucopolysaccharidosis type 6
p.Tyr266Ser Multiple submitters mucopolysaccharidosis type 6
p.Tyr513Ter Multiple submitters mucopolysaccharidosis type 6
p.Val143fs Multiple submitters mucopolysaccharidosis type 6
c.1143-1G>T Single submitter mucopolysaccharidosis type 6
c.1336+2T>C Single submitter mucopolysaccharidosis type 6
c.307_312+147del Single submitter mucopolysaccharidosis type 6
c.899-1337_1142+1055del Single submitter mucopolysaccharidosis type 6
p.Arg11fs Single submitter mucopolysaccharidosis type 6
p.Arg180_Cys181insTer Single submitter mucopolysaccharidosis type 6
p.Arg520fs Single submitter mucopolysaccharidosis type 6
p.Asp478fs Single submitter mucopolysaccharidosis type 6
p.Cys91fs Single submitter mucopolysaccharidosis type 6
p.Gln104Ter Single submitter mucopolysaccharidosis type 6
p.Gln239Ter Single submitter mucopolysaccharidosis type 6
p.Gln259Ter Single submitter mucopolysaccharidosis type 6
p.Glu126Ter Single submitter mucopolysaccharidosis type 6
p.Glu135Ter Single submitter mucopolysaccharidosis type 6
p.Glu249Ter Single submitter mucopolysaccharidosis type 6
p.Glu346fs Single submitter mucopolysaccharidosis type 6
p.Glu346Ter Single submitter mucopolysaccharidosis type 6
p.Glu421Ter Single submitter mucopolysaccharidosis type 6
p.Gly144Arg Single submitter mucopolysaccharidosis type 6
p.Gly302Arg Single submitter mucopolysaccharidosis type 6
p.Gly341fs Single submitter mucopolysaccharidosis type 6
p.Gly64fs Single submitter mucopolysaccharidosis type 6
p.His508fs Single submitter mucopolysaccharidosis type 6
p.Ile184Thr Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu129fs Single submitter mucopolysaccharidosis type 6
p.Leu183Ter Single submitter mucopolysaccharidosis type 6
p.Leu19fs Single submitter mucopolysaccharidosis type 6
p.Leu289_Trp290insGlyArgProArgArgAlaAspHisGluValLysArgSerArgProSerArgLeuLysArgTer Single submitter mucopolysaccharidosis type 6
p.Leu306fs Single submitter mucopolysaccharidosis type 6
p.Leu51Pro Single submitter mucopolysaccharidosis type 6
p.Leu72fs Single submitter mucopolysaccharidosis type 6
p.Leu82Gln Single submitter mucopolysaccharidosis type 6
p.Phe166fs Single submitter mucopolysaccharidosis type 6
p.Pro157fs Single submitter mucopolysaccharidosis type 6
p.Pro227fs Single submitter mucopolysaccharidosis type 6
p.Pro70fs Single submitter mucopolysaccharidosis type 6
p.Ser320Ile Single submitter mucopolysaccharidosis type 6
p.Ser403fs Single submitter mucopolysaccharidosis type 6
p.Ser403Ter Single submitter mucopolysaccharidosis type 6
p.Ser464fs Single submitter mucopolysaccharidosis type 6
p.Trp146fs Single submitter mucopolysaccharidosis type 6
p.Trp290Ter Single submitter mucopolysaccharidosis type 6
p.Trp319Ter Single submitter mucopolysaccharidosis type 6
p.Trp353Ter Single submitter mucopolysaccharidosis type 6
p.Tyr86fs Single submitter mucopolysaccharidosis type 6
p.Val512fs Single submitter mucopolysaccharidosis type 6
p.Val80fs Single submitter mucopolysaccharidosis type 6
c.384_386delCTC No assertion criteria mucopolysaccharidosis type 6

Pathogenic/Likely pathogenic 50

c.1142+2T>A Multiple submitters mucopolysaccharidosis type 6
c.1143-1G>A Multiple submitters mucopolysaccharidosis type 6
c.1143-8T>G Multiple submitters mucopolysaccharidosis type 6
c.1213+6T>C Multiple submitters mucopolysaccharidosis type 6
c.1214-2A>T Multiple submitters mucopolysaccharidosis type 6
c.1336+1G>A Multiple submitters mucopolysaccharidosis type 6
c.691-1G>A Multiple submitters mucopolysaccharidosis type 6
c.898+1G>A Multiple submitters mucopolysaccharidosis type 6
p.Arg160Gln Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Arg315Gln Multiple submitters ARSB-related disorder ⚠
p.Arg315Pro Multiple submitters mucopolysaccharidosis type 6
p.Arg315Ter Multiple submitters mucopolysaccharidosis type 6
p.Arg434Ter Multiple submitters mucopolysaccharidosis type 6
p.Arg95Gln Multiple submitters mucopolysaccharidosis type 6
p.Cys117Arg Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Cys192Arg Multiple submitters mucopolysaccharidosis type 6
p.Cys405Tyr Multiple submitters metachromatic leukodystrophy
p.Gln110Ter Multiple submitters mucopolysaccharidosis type 6
p.Gln456Ter Multiple submitters mucopolysaccharidosis type 6
p.Gln503Ter Multiple submitters mucopolysaccharidosis type 6
p.Gln97Ter Multiple submitters mucopolysaccharidosis type 6
p.Glu275Ter Multiple submitters mucopolysaccharidosis type 6
p.Glu390Lys Multiple submitters mucopolysaccharidosis type 6
p.Glu483Asp Multiple submitters mucopolysaccharidosis type 6
p.Gly108Val Multiple submitters mucopolysaccharidosis type 6
p.Gly303Glu Multiple submitters mucopolysaccharidosis type 6
p.Gly324Val Multiple submitters Inborn genetic diseases
p.Gly328Arg Multiple submitters mucopolysaccharidosis type 6
p.Gly40fs Multiple submitters mucopolysaccharidosis type 6
p.His393Arg Multiple submitters mucopolysaccharidosis type 6
p.His393Pro Multiple submitters mucopolysaccharidosis type 6
p.Leu354fs Multiple submitters mucopolysaccharidosis type 6
p.Leu360Pro Multiple submitters mucopolysaccharidosis type 6
p.Leu82Pro Multiple submitters mucopolysaccharidosis type 6
p.Pro123fs Multiple submitters mucopolysaccharidosis type 6
p.Pro313Ala Multiple submitters mucopolysaccharidosis type 6
p.Ser120fs Multiple submitters mucopolysaccharidosis type 6
p.Ser37fs Multiple submitters mucopolysaccharidosis type 6
p.Ter534Trp Multiple submitters mucopolysaccharidosis type 6
p.Thr442Arg Multiple submitters mucopolysaccharidosis type 6
p.Thr92Lys Multiple submitters ARSB-related disorder
p.Trp115Ter Multiple submitters mucopolysaccharidosis type 6
p.Trp146Ter Multiple submitters mucopolysaccharidosis type 6
p.Trp377Ter Multiple submitters mucopolysaccharidosis type 6
p.Trp438Ter Multiple submitters mucopolysaccharidosis type 6
p.Trp450Cys Multiple submitters mucopolysaccharidosis type 6
p.Trp473Ter Multiple submitters mucopolysaccharidosis type 6
p.Tyr255Ter Multiple submitters mucopolysaccharidosis type 6
p.Tyr86del Multiple submitters mucopolysaccharidosis type 6
p.Val22fs Multiple submitters mucopolysaccharidosis type 6

Likely pathogenic 92

c.1214-1G>A Multiple submitters mucopolysaccharidosis type 6
c.1214-2A>G Multiple submitters mucopolysaccharidosis type 6
c.690+2T>C Multiple submitters mucopolysaccharidosis type 6
p.Arg102His Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Arg152Gln Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Gly171Ser Multiple submitters mucopolysaccharidosis type 6
p.His147Leu Multiple submitters mucopolysaccharidosis type 6
p.His430Arg Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Ile296Asn Multiple submitters mucopolysaccharidosis type 6
p.Ser351Phe Multiple submitters mucopolysaccharidosis type 6
p.Ser423Ter Multiple submitters mucopolysaccharidosis type 6
p.Ser465Ter Multiple submitters mucopolysaccharidosis type 6
p.Trp312Cys Multiple submitters mucopolysaccharidosis type 6
c.1140_1142+2del Single submitter mucopolysaccharidosis type 6
c.1142+581A>G Single submitter mucopolysaccharidosis type 6
c.1143-2A>T Single submitter mucopolysaccharidosis type 6
c.1337-1G>C Single submitter mucopolysaccharidosis type 6
c.300_312+18del Single submitter mucopolysaccharidosis type 6
c.(312+1_313-1_690+1_691-1 Single submitter mucopolysaccharidosis type 6
c.313-7412_690+1601del Single submitter mucopolysaccharidosis type 6
c.499+2T>A Single submitter mucopolysaccharidosis type 6
c.500-2A>G Single submitter mucopolysaccharidosis type 6
c.690+2T>G Single submitter mucopolysaccharidosis type 6
c.898+1G>T Single submitter mucopolysaccharidosis type 6
p.Ala136fs Single submitter mucopolysaccharidosis type 6
p.Ala267fs Single submitter mucopolysaccharidosis type 6
p.Arg106Pro Single submitter
p.Arg160Gly Single submitter mucopolysaccharidosis type 6
p.Arg263fs Single submitter mucopolysaccharidosis type 6
p.Arg388fs Single submitter mucopolysaccharidosis type 6
p.Arg95Leu Single submitter mucopolysaccharidosis type 6
p.Arg95Trp Single submitter mucopolysaccharidosis type 6
p.Asn262fs Single submitter mucopolysaccharidosis type 6
p.Asn301Lys Single submitter mucopolysaccharidosis type 6
p.Asn58fs Single submitter mucopolysaccharidosis type 6
p.Asp352Asn Single submitter mucopolysaccharidosis type 6
p.Asp480fs Single submitter mucopolysaccharidosis type 6
p.Asp486Glu Single submitter mucopolysaccharidosis type 6 ⚠
p.Asp53Gly Single submitter mucopolysaccharidosis type 6
p.Asp59Val Single submitter mucopolysaccharidosis type 6
p.Asp73fs Single submitter mucopolysaccharidosis type 6
p.Asp83fs Single submitter mucopolysaccharidosis type 6
p.Cys117fs Single submitter mucopolysaccharidosis type 6
p.Cys117Tyr Single submitter mucopolysaccharidosis type 6 ⚠
p.Cys155Ter Single submitter mucopolysaccharidosis type 6
p.Gln131Ter Single submitter mucopolysaccharidosis type 6
p.Glu250fs Single submitter mucopolysaccharidosis type 6
p.Glu461Ter Single submitter mucopolysaccharidosis type 6
p.Gly108Asp Single submitter mucopolysaccharidosis type 6
p.Gly137Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Gly171fs Single submitter mucopolysaccharidosis type 6
p.Gly205fs Single submitter mucopolysaccharidosis type 6
p.Gly302Glu Single submitter mucopolysaccharidosis type 6
p.Gly303Val Single submitter mucopolysaccharidosis type 6
p.Gly325fs Single submitter mucopolysaccharidosis type 6
p.Gly363fs Single submitter mucopolysaccharidosis type 6
p.Gly36fs Single submitter mucopolysaccharidosis type 6
p.His147Gln Single submitter mucopolysaccharidosis type 6
p.His178Asp Single submitter mucopolysaccharidosis type 6
p.His178Gln Single submitter mucopolysaccharidosis type 6
p.His178Leu Single submitter mucopolysaccharidosis type 6
p.His430fs Single submitter mucopolysaccharidosis type 6
p.Ile220fs Single submitter mucopolysaccharidosis type 6
p.Ile296fs Single submitter mucopolysaccharidosis type 6
p.Ile350Phe Single submitter mucopolysaccharidosis type 6
p.Ile494fs Single submitter mucopolysaccharidosis type 6
p.Leu132Pro Single submitter mucopolysaccharidosis type 6
p.Leu170Arg Single submitter mucopolysaccharidosis type 6
p.Leu232fs Single submitter mucopolysaccharidosis type 6
p.Leu321Gln Single submitter mucopolysaccharidosis type 6
p.Leu472Pro Single submitter mucopolysaccharidosis type 6
p.Leu50Ter Single submitter mucopolysaccharidosis type 6
p.Leu75fs Single submitter mucopolysaccharidosis type 6
p.Leu82Val Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu90Pro Single submitter mucopolysaccharidosis type 6
p.Leu98Gln Single submitter mucopolysaccharidosis type 6
p.Met209_Tyr210insTer Single submitter mucopolysaccharidosis type 6
p.Phe233fs Single submitter mucopolysaccharidosis type 6
p.Pro244Thr Single submitter Inborn genetic diseases
p.Pro492fs Single submitter mucopolysaccharidosis type 6
p.Pro89fs Single submitter mucopolysaccharidosis type 6
p.Ser320Arg Single submitter mucopolysaccharidosis type 6
p.Ser464Ter Single submitter mucopolysaccharidosis type 6
p.Ter534Ser Single submitter mucopolysaccharidosis type 6
p.Thr299fs Single submitter mucopolysaccharidosis type 6
p.Thr427fs Single submitter mucopolysaccharidosis type 6
p.Tyr168Ter Single submitter mucopolysaccharidosis type 6
p.Tyr210His Single submitter mucopolysaccharidosis type 6
p.Tyr266Cys Single submitter mucopolysaccharidosis type 6 ⚠
p.Val332Gly Single submitter mucopolysaccharidosis type 6
p.Val376Glu Single submitter mucopolysaccharidosis type 6
p.Gln97Arg No assertion criteria mucopolysaccharidosis type 6

Conflicting classifications of pathogenicity 51

c.1213+5G>A Single submitter mucopolysaccharidosis type 6
c.1214-15A>T Single submitter mucopolysaccharidosis type 6
c.1336+2T>G Single submitter mucopolysaccharidosis type 6
c.1337-3T>A Single submitter mucopolysaccharidosis type 6
c.*1635G>A Single submitter mucopolysaccharidosis type 6
c.*2408A>G Single submitter mucopolysaccharidosis type 6
p.Ala237Asp Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg102Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg106His Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg159Cys Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg327Gln Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg484Gly Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg484Thr Single submitter mucopolysaccharidosis type 6 ⚠
p.Asn310Asp Single submitter mucopolysaccharidosis type 6 ⚠
p.Asn408= Single submitter mucopolysaccharidosis type 6
p.Asn458Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Asp300Glu Single submitter mucopolysaccharidosis type 6 ⚠
p.Asp375Asn Single submitter mucopolysaccharidosis type 6 ⚠
p.Cys447Phe Single submitter mucopolysaccharidosis type 6 ⚠
p.Cys447Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Cys521Tyr Single submitter mucopolysaccharidosis type 6 ⚠
p.Gln104His Single submitter mucopolysaccharidosis type 6 ⚠
p.Gly167Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Gly302Pro Single submitter mucopolysaccharidosis type 6
p.Gly308Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Gly308Glu Single submitter mucopolysaccharidosis type 6 ⚠
p.Gly79Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.His147Pro Single submitter mucopolysaccharidosis type 6 ⚠
p.Ile220Val Single submitter Inborn genetic diseases ⚠
p.Ile223Val Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu170= Single submitter mucopolysaccharidosis type 6
p.Leu236Pro Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu360= Single submitter mucopolysaccharidosis type 6
p.Leu498Pro Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu72Gln Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu98Pro Single submitter mucopolysaccharidosis type 6 ⚠
p.Phe374= Single submitter mucopolysaccharidosis type 6
p.Phe399= Single submitter mucopolysaccharidosis type 6
p.Phe399Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Phe62Tyr Single submitter Inborn genetic diseases ⚠
p.Pro130Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Pro313Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Pro445Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Pro481Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Pro511= Single submitter mucopolysaccharidosis type 6
p.Ser334Ile Single submitter mucopolysaccharidosis type 6 ⚠
p.Ser65Phe Single submitter mucopolysaccharidosis type 6 ⚠
p.Thr305Ile Single submitter mucopolysaccharidosis type 6 ⚠
p.Thr442Met Single submitter mucopolysaccharidosis type 6 ⚠
p.Trp312Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Trp353Arg Single submitter mucopolysaccharidosis type 6 ⚠

Benign 56

c.1142+138C>T Multiple submitters
c.1142+233C>T Multiple submitters
c.1143-27A>C Multiple submitters mucopolysaccharidosis type 6
c.1213+23505T>C Multiple submitters
c.1214-32T>C Multiple submitters
c.1337-32C>G Multiple submitters
c.313-26T>C Multiple submitters mucopolysaccharidosis type 6
c.313-77G>A Multiple submitters
c.313-81G>A Multiple submitters
c.499+145G>C Multiple submitters
c.691-22T>C Multiple submitters mucopolysaccharidosis type 6
c.899-200A>G Multiple submitters
c.-302A>G Multiple submitters
c.-310-3dup Multiple submitters mucopolysaccharidosis type 6
c.*1257A>C Multiple submitters mucopolysaccharidosis type 6
c.*1302G>T Multiple submitters mucopolysaccharidosis type 6
c.*1469C>T Multiple submitters mucopolysaccharidosis type 6
c.*2022T>G Multiple submitters mucopolysaccharidosis type 6
c.*202A>G Multiple submitters mucopolysaccharidosis type 6
c.*2975G>T Multiple submitters mucopolysaccharidosis type 6
c.*3181T>G Multiple submitters mucopolysaccharidosis type 6
p.Glu482= Multiple submitters mucopolysaccharidosis type 6
p.Gly324= Multiple submitters mucopolysaccharidosis type 6
p.Pro397= Multiple submitters mucopolysaccharidosis type 6
p.Pro454= Multiple submitters mucopolysaccharidosis type 6
p.Ser384Asn Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Val358Met Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Val376Met Multiple submitters mucopolysaccharidosis type 6 ⚠
c.1213+210_1213+212del Single submitter
c.1213+22974C>T Single submitter
c.1213+23309_1213+25380del Single submitter
c.1337-15del Single submitter mucopolysaccharidosis type 6
c.1337-217C>T Single submitter
c.312+163G>T Single submitter
c.312+167G>A Single submitter
c.312+229C>A Single submitter
c.312+304C>T Single submitter
c.313-286del Single submitter
c.499+160A>G Single submitter
c.500-229G>A Single submitter
c.500-251del Single submitter
c.500-255A>T Single submitter
c.690+136A>G Single submitter
c.690+271T>G Single submitter
c.690+9del Single submitter mucopolysaccharidosis type 6
c.691-171_691-168del Single submitter
c.691-186G>A Single submitter
c.-1599C>T Single submitter
c.-265G>A Single submitter
c.-310-98_-310-95del Single submitter
c.*2654A>G Single submitter mucopolysaccharidosis type 6
c.*2859T>C Single submitter mucopolysaccharidosis type 6
p.Ala361Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Asn301= Single submitter mucopolysaccharidosis type 6
p.Glu250= Single submitter mucopolysaccharidosis type 6
p.Thr190= Single submitter mucopolysaccharidosis type 6

Benign/Likely benign 7

c.313-12T>C Multiple submitters mucopolysaccharidosis type 6
c.-311+87A>G Multiple submitters
c.*60G>A Multiple submitters mucopolysaccharidosis type 6
p.Arg152= Multiple submitters mucopolysaccharidosis type 6
p.Gly38_Gly40del Multiple submitters mucopolysaccharidosis type 6
p.Ile350Val Multiple submitters mucopolysaccharidosis type 6
p.Thr356= Multiple submitters mucopolysaccharidosis type 6

Likely benign 269

c.1213+149C>G Multiple submitters
c.312+57G>C Multiple submitters
c.499+16_499+17del Multiple submitters mucopolysaccharidosis type 6
p.Glu243= Multiple submitters mucopolysaccharidosis type 6
p.Lys261= Multiple submitters mucopolysaccharidosis type 6
p.Pro468= Multiple submitters mucopolysaccharidosis type 6
p.Ser37= Multiple submitters mucopolysaccharidosis type 6
p.Val528= Multiple submitters mucopolysaccharidosis type 6
c.1142+10C>T Single submitter mucopolysaccharidosis type 6
c.1142+11C>T Single submitter mucopolysaccharidosis type 6
c.1142+12C>T Single submitter mucopolysaccharidosis type 6
c.1142+14G>A Single submitter mucopolysaccharidosis type 6
c.1142+17C>G Single submitter mucopolysaccharidosis type 6
c.1142+18T>G Single submitter mucopolysaccharidosis type 6
c.1142+671A>G Single submitter mucopolysaccharidosis type 6
c.1142+7A>T Single submitter mucopolysaccharidosis type 6
c.1142+9A>C Single submitter mucopolysaccharidosis type 6
c.1143-11T>C Single submitter mucopolysaccharidosis type 6
c.1143-16A>C Single submitter mucopolysaccharidosis type 6
c.1143-263A>G Single submitter
c.1143-4C>A Single submitter mucopolysaccharidosis type 6
c.1143-5T>C Single submitter mucopolysaccharidosis type 6
c.1213+13G>A Single submitter mucopolysaccharidosis type 6
c.1213+15A>G Single submitter mucopolysaccharidosis type 6
c.1213+18G>A Single submitter mucopolysaccharidosis type 6
c.1213+23022G>T Single submitter
c.1214-12A>G Single submitter mucopolysaccharidosis type 6
c.1214-12dup Single submitter mucopolysaccharidosis type 6
c.1214-14C>T Single submitter mucopolysaccharidosis type 6
c.1214-17A>C Single submitter mucopolysaccharidosis type 6
c.1214-4C>T Single submitter mucopolysaccharidosis type 6
c.1214-5C>A Single submitter mucopolysaccharidosis type 6
c.1214-5C>G Single submitter mucopolysaccharidosis type 6
c.1214-6T>G Single submitter mucopolysaccharidosis type 6
c.1214-8C>A Single submitter mucopolysaccharidosis type 6
c.1336+12A>G Single submitter mucopolysaccharidosis type 6
c.1336+18G>A Single submitter mucopolysaccharidosis type 6
c.1336+7del Single submitter mucopolysaccharidosis type 6
c.1336+8C>A Single submitter mucopolysaccharidosis type 6
c.1336+8C>T Single submitter mucopolysaccharidosis type 6
c.1337-14G>C Single submitter mucopolysaccharidosis type 6
c.1337-16T>C Single submitter mucopolysaccharidosis type 6
c.1337-19_1337-18del Single submitter mucopolysaccharidosis type 6
c.1337-19GTTTT[3] Single submitter mucopolysaccharidosis type 6
c.1337-6T>C Single submitter mucopolysaccharidosis type 6
c.1337-7T>C Single submitter mucopolysaccharidosis type 6
c.312+14_312+22del Single submitter mucopolysaccharidosis type 6
c.312+14C>A Single submitter mucopolysaccharidosis type 6
c.312+14C>G Single submitter mucopolysaccharidosis type 6
c.312+16G>A Single submitter mucopolysaccharidosis type 6
c.312+17C>G Single submitter mucopolysaccharidosis type 6
c.312+19_312+41del Single submitter mucopolysaccharidosis type 6
c.312+7G>A Single submitter mucopolysaccharidosis type 6
c.312+8_312+16dup Single submitter mucopolysaccharidosis type 6
c.312+8G>A Single submitter mucopolysaccharidosis type 6
c.312+9C>A Single submitter mucopolysaccharidosis type 6
c.313-11A>G Single submitter mucopolysaccharidosis type 6
c.313-14T>A Single submitter mucopolysaccharidosis type 6
c.313-16T>C Single submitter mucopolysaccharidosis type 6
c.313-19T>G Single submitter mucopolysaccharidosis type 6
c.499+10A>G Single submitter mucopolysaccharidosis type 6
c.499+10dup Single submitter mucopolysaccharidosis type 6
c.499+13C>G Single submitter mucopolysaccharidosis type 6
c.499+13C>T Single submitter mucopolysaccharidosis type 6
c.499+15C>T Single submitter mucopolysaccharidosis type 6
c.499+16A>G Single submitter mucopolysaccharidosis type 6
c.499+7G>A Single submitter mucopolysaccharidosis type 6
c.499+9A>G Single submitter mucopolysaccharidosis type 6
c.500-10A>G Single submitter mucopolysaccharidosis type 6
c.500-10A>T Single submitter mucopolysaccharidosis type 6
c.500-11C>T Single submitter mucopolysaccharidosis type 6
c.500-17G>A Single submitter mucopolysaccharidosis type 6
c.500-17G>T Single submitter mucopolysaccharidosis type 6
c.500-18C>T Single submitter mucopolysaccharidosis type 6
c.500-4G>A Single submitter mucopolysaccharidosis type 6
c.500-4G>T Single submitter mucopolysaccharidosis type 6
c.500-7C>A Single submitter mucopolysaccharidosis type 6
c.500-8T>A Single submitter mucopolysaccharidosis type 6
c.690+11C>T Single submitter mucopolysaccharidosis type 6
c.690+14C>T Single submitter mucopolysaccharidosis type 6
c.690+15T>C Single submitter mucopolysaccharidosis type 6
c.690+16A>C Single submitter mucopolysaccharidosis type 6
c.690+16A>G Single submitter mucopolysaccharidosis type 6
c.690+9T>C Single submitter mucopolysaccharidosis type 6
c.691-12C>T Single submitter mucopolysaccharidosis type 6
c.691-20T>C Single submitter mucopolysaccharidosis type 6
c.691-4C>T Single submitter mucopolysaccharidosis type 6
c.691-6T>C Single submitter mucopolysaccharidosis type 6
c.691-7T>C Single submitter mucopolysaccharidosis type 6
c.691-8C>T Single submitter mucopolysaccharidosis type 6
c.898+10T>C Single submitter mucopolysaccharidosis type 6
c.898+14T>C Single submitter mucopolysaccharidosis type 6
c.898+7C>T Single submitter mucopolysaccharidosis type 6
c.898+9G>C Single submitter mucopolysaccharidosis type 6
c.899-10T>C Single submitter mucopolysaccharidosis type 6
c.899-16C>T Single submitter mucopolysaccharidosis type 6
c.899-17A>G Single submitter mucopolysaccharidosis type 6
c.899-4dup Single submitter mucopolysaccharidosis type 6
c.899-9G>A Single submitter mucopolysaccharidosis type 6
c.-246C>T Single submitter
c.*2243A>G Single submitter mucopolysaccharidosis type 6
p.Ala219= Single submitter mucopolysaccharidosis type 6
p.Ala221= Single submitter mucopolysaccharidosis type 6
p.Ala282= Single submitter mucopolysaccharidosis type 6
p.Ala307= Single submitter mucopolysaccharidosis type 6
p.Ala333= Single submitter mucopolysaccharidosis type 6
p.Ala39= Single submitter mucopolysaccharidosis type 6
p.Ala424= Single submitter mucopolysaccharidosis type 6
p.Ala431= Single submitter mucopolysaccharidosis type 6
p.Ala432= Single submitter mucopolysaccharidosis type 6
p.Ala516= Single submitter mucopolysaccharidosis type 6
p.Ala525= Single submitter mucopolysaccharidosis type 6
p.Ala6= Single submitter mucopolysaccharidosis type 6
p.Ala74= Single submitter mucopolysaccharidosis type 6
p.Ala76= Single submitter mucopolysaccharidosis type 6
p.Arg102= Single submitter mucopolysaccharidosis type 6
p.Arg11= Single submitter mucopolysaccharidosis type 6
p.Arg159= Single submitter mucopolysaccharidosis type 6
p.Arg16= Single submitter mucopolysaccharidosis type 6
p.Arg160= Single submitter mucopolysaccharidosis type 6
p.Arg180= Single submitter mucopolysaccharidosis type 6
p.Arg218= Single submitter mucopolysaccharidosis type 6
p.Arg263= Single submitter mucopolysaccharidosis type 6
p.Arg315= Single submitter mucopolysaccharidosis type 6
p.Arg317= Single submitter mucopolysaccharidosis type 6
p.Arg327= Single submitter mucopolysaccharidosis type 6
p.Arg362= Single submitter mucopolysaccharidosis type 6
p.Arg362Gly Single submitter Inborn genetic diseases
p.Arg520= Single submitter mucopolysaccharidosis type 6
p.Arg95= Single submitter mucopolysaccharidosis type 6
p.Asn279= Single submitter mucopolysaccharidosis type 6
p.Asn58= Single submitter mucopolysaccharidosis type 6
p.Asp185= Single submitter mucopolysaccharidosis type 6
p.Asp274= Single submitter mucopolysaccharidosis type 6
p.Asp375= Single submitter mucopolysaccharidosis type 6
p.Asp401= Single submitter mucopolysaccharidosis type 6
p.Asp466= Single submitter mucopolysaccharidosis type 6
p.Asp476= Single submitter mucopolysaccharidosis type 6
p.Asp478= Single submitter mucopolysaccharidosis type 6
p.Asp480= Single submitter mucopolysaccharidosis type 6
p.Asp518= Single submitter mucopolysaccharidosis type 6
p.Cys117= Single submitter mucopolysaccharidosis type 6
p.Cys121= Single submitter mucopolysaccharidosis type 6
p.Cys192= Single submitter mucopolysaccharidosis type 6
p.Gln112= Single submitter mucopolysaccharidosis type 6
p.Gln118= Single submitter mucopolysaccharidosis type 6
p.Gln259= Single submitter mucopolysaccharidosis type 6
p.Gln456= Single submitter mucopolysaccharidosis type 6
p.Glu173= Single submitter mucopolysaccharidosis type 6
p.Glu390= Single submitter mucopolysaccharidosis type 6
p.Gly108= Single submitter mucopolysaccharidosis type 6
p.Gly144= Single submitter mucopolysaccharidosis type 6
p.Gly167= Single submitter mucopolysaccharidosis type 6
p.Gly199= Single submitter mucopolysaccharidosis type 6
p.Gly2= Single submitter mucopolysaccharidosis type 6
p.Gly205= Single submitter mucopolysaccharidosis type 6
p.Gly303= Single submitter mucopolysaccharidosis type 6
p.Gly308= Single submitter mucopolysaccharidosis type 6
p.Gly325= Single submitter mucopolysaccharidosis type 6
p.Gly328= Single submitter mucopolysaccharidosis type 6
p.Gly341= Single submitter mucopolysaccharidosis type 6
p.Gly363= Single submitter mucopolysaccharidosis type 6
p.Gly40= Single submitter mucopolysaccharidosis type 6
p.Gly436= Single submitter mucopolysaccharidosis type 6
p.Gly446= Single submitter mucopolysaccharidosis type 6
p.Gly5= Single submitter mucopolysaccharidosis type 6
p.Gly527= Single submitter mucopolysaccharidosis type 6
p.Gly530= Single submitter
p.Gly78= Single submitter mucopolysaccharidosis type 6
p.His226= Single submitter mucopolysaccharidosis type 6
p.His242= Single submitter mucopolysaccharidosis type 6
p.His349= Single submitter mucopolysaccharidosis type 6
p.His435= Single submitter mucopolysaccharidosis type 6
p.Ile105= Single submitter mucopolysaccharidosis type 6
p.Ile113= Single submitter mucopolysaccharidosis type 6
p.Ile494= Single submitter mucopolysaccharidosis type 6
p.Ile494Val Single submitter mucopolysaccharidosis type 6
p.Leu109= Single submitter mucopolysaccharidosis type 6
p.Leu124= Single submitter mucopolysaccharidosis type 6
p.Leu128= Single submitter mucopolysaccharidosis type 6
p.Leu129= Single submitter mucopolysaccharidosis type 6
p.Leu133= Single submitter mucopolysaccharidosis type 6
p.Leu187= Single submitter mucopolysaccharidosis type 6
p.Leu194= Single submitter mucopolysaccharidosis type 6
p.Leu222= Single submitter mucopolysaccharidosis type 6
p.Leu232= Single submitter mucopolysaccharidosis type 6
p.Leu238= Single submitter mucopolysaccharidosis type 6
p.Leu252= Single submitter mucopolysaccharidosis type 6
p.Leu26= Single submitter mucopolysaccharidosis type 6
p.Leu29= Single submitter mucopolysaccharidosis type 6
p.Leu30= Single submitter mucopolysaccharidosis type 6
p.Leu306= Single submitter mucopolysaccharidosis type 6
p.Leu31= Single submitter mucopolysaccharidosis type 6
p.Leu314= Single submitter mucopolysaccharidosis type 6
p.Leu32= Single submitter mucopolysaccharidosis type 6
p.Leu321= Single submitter mucopolysaccharidosis type 6
p.Leu337= Single submitter mucopolysaccharidosis type 6
p.Leu357= Single submitter mucopolysaccharidosis type 6
p.Leu357Val Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu391= Single submitter mucopolysaccharidosis type 6
p.Leu392= Single submitter mucopolysaccharidosis type 6
p.Leu440= Single submitter mucopolysaccharidosis type 6
p.Leu472= Single submitter mucopolysaccharidosis type 6
p.Leu474= Single submitter mucopolysaccharidosis type 6
p.Leu502= Single submitter mucopolysaccharidosis type 6
p.Leu75= Single submitter mucopolysaccharidosis type 6
p.Leu82= Single submitter mucopolysaccharidosis type 6
p.Lys318= Single submitter mucopolysaccharidosis type 6
p.Phe215= Single submitter
p.Phe451= Single submitter mucopolysaccharidosis type 6
p.Phe475= Single submitter mucopolysaccharidosis type 6
p.Pro10= Single submitter mucopolysaccharidosis type 6
p.Pro119= Single submitter mucopolysaccharidosis type 6
p.Pro130= Single submitter mucopolysaccharidosis type 6
p.Pro248= Single submitter mucopolysaccharidosis type 6
p.Pro254= Single submitter mucopolysaccharidosis type 6
p.Pro335= Single submitter mucopolysaccharidosis type 6
p.Pro34= Single submitter mucopolysaccharidosis type 6
p.Pro35= Single submitter mucopolysaccharidosis type 6
p.Pro355= Single submitter mucopolysaccharidosis type 6
p.Pro385= Single submitter mucopolysaccharidosis type 6
p.Pro387= Single submitter mucopolysaccharidosis type 6
p.Pro44= Single submitter mucopolysaccharidosis type 6
p.Pro45= Single submitter mucopolysaccharidosis type 6
p.Pro452= Single submitter mucopolysaccharidosis type 6
p.Pro463= Single submitter mucopolysaccharidosis type 6
p.Pro515= Single submitter mucopolysaccharidosis type 6
p.Pro519= Single submitter mucopolysaccharidosis type 6
p.Ser177= Single submitter mucopolysaccharidosis type 6
p.Ser271= Single submitter mucopolysaccharidosis type 6
p.Ser287= Single submitter mucopolysaccharidosis type 6
p.Ser320= Single submitter mucopolysaccharidosis type 6
p.Ser384= Single submitter mucopolysaccharidosis type 6
p.Ser402= Single submitter mucopolysaccharidosis type 6
p.Ser403= Single submitter mucopolysaccharidosis type 6
p.Ser417= Single submitter mucopolysaccharidosis type 6
p.Ser418= Single submitter mucopolysaccharidosis type 6
p.Ser423= Single submitter mucopolysaccharidosis type 6
p.Ser465= Single submitter mucopolysaccharidosis type 6
p.Ser500= Single submitter mucopolysaccharidosis type 6
p.Thr100= Single submitter mucopolysaccharidosis type 6
p.Thr107= Single submitter mucopolysaccharidosis type 6
p.Thr139= Single submitter mucopolysaccharidosis type 6
p.Thr158= Single submitter mucopolysaccharidosis type 6
p.Thr164= Single submitter mucopolysaccharidosis type 6
p.Thr182= Single submitter mucopolysaccharidosis type 6
p.Thr293= Single submitter mucopolysaccharidosis type 6
p.Thr365= Single submitter mucopolysaccharidosis type 6
p.Thr427= Single submitter mucopolysaccharidosis type 6
p.Thr442= Single submitter mucopolysaccharidosis type 6
p.Thr496= Single submitter mucopolysaccharidosis type 6
p.Thr526= Single submitter mucopolysaccharidosis type 6
p.Thr92= Single submitter mucopolysaccharidosis type 6
p.Tyr103= Single submitter mucopolysaccharidosis type 6
p.Tyr251= Single submitter mucopolysaccharidosis type 6
p.Tyr449= Single submitter mucopolysaccharidosis type 6
p.Val143= Single submitter mucopolysaccharidosis type 6
p.Val189= Single submitter mucopolysaccharidosis type 6
p.Val22= Single submitter mucopolysaccharidosis type 6
p.Val23= Single submitter mucopolysaccharidosis type 6
p.Val241= Single submitter mucopolysaccharidosis type 6
p.Val342= Single submitter mucopolysaccharidosis type 6
p.Val358= Single submitter mucopolysaccharidosis type 6
p.Val376= Single submitter mucopolysaccharidosis type 6
p.Val48= Single submitter mucopolysaccharidosis type 6
p.Val510= Single submitter mucopolysaccharidosis type 6
p.Val60= Single submitter mucopolysaccharidosis type 6
c.312+29C>T No assertion criteria
p.Gln304Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma

Uncertain significance 270

c.312+4C>T Multiple submitters mucopolysaccharidosis type 6
c.*1153C>A Multiple submitters mucopolysaccharidosis type 6
c.*2013G>A Multiple submitters mucopolysaccharidosis type 6
p.Ala136Thr Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Ala186Thr Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Ala516Thr Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Arg180Cys Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Arg180His Multiple submitters Inborn genetic diseases ⚠
p.Arg501His Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Asn225Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn262Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp416Val Multiple submitters Inborn genetic diseases ⚠
p.Gly137Asp Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Gly268Val Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Gly309Ser Multiple submitters Inborn genetic diseases ⚠
p.His264Asn Multiple submitters mucopolysaccharidosis type 6 ⚠
p.His485Asp Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Ile184Val Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Leu32del Multiple submitters mucopolysaccharidosis type 6
p.Pro10Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro228Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro25Gln Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Pro387Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro397Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro3Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro420Ala Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Ser403Leu Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Ser42Gly Multiple submitters Inborn genetic diseases ⚠
p.Thr216Ile Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Tyr175His Multiple submitters Inborn genetic diseases ⚠
p.Tyr235Cys Multiple submitters Inborn genetic diseases ⚠
p.Val342Met Multiple submitters Inborn genetic diseases ⚠
p.Val495Ile Multiple submitters mucopolysaccharidosis type 6 ⚠
p.Val512Met Multiple submitters Inborn genetic diseases ⚠
c.1143-22011C>A Single submitter mucopolysaccharidosis type 6
c.1336+4G>T Single submitter mucopolysaccharidosis type 6
c.499+5T>C Single submitter mucopolysaccharidosis type 6
c.499+6G>A Single submitter mucopolysaccharidosis type 6
c.899-10T>G Single submitter
c.899-5T>C Single submitter
c.-15C>T Single submitter mucopolysaccharidosis type 6
c.*1146G>A Single submitter mucopolysaccharidosis type 6
c.*1169T>C Single submitter mucopolysaccharidosis type 6
c.*1276C>G Single submitter mucopolysaccharidosis type 6
c.*1286C>T Single submitter mucopolysaccharidosis type 6
c.*1326G>T Single submitter mucopolysaccharidosis type 6
c.*1360T>A Single submitter mucopolysaccharidosis type 6
c.*1373A>G Single submitter mucopolysaccharidosis type 6
c.*1387C>T Single submitter mucopolysaccharidosis type 6
c.*1420G>A Single submitter mucopolysaccharidosis type 6
c.*1499C>G Single submitter mucopolysaccharidosis type 6
c.*1513C>T Single submitter mucopolysaccharidosis type 6
c.*1594C>A Single submitter mucopolysaccharidosis type 6
c.*1610G>A Single submitter mucopolysaccharidosis type 6
c.*166G>A Single submitter mucopolysaccharidosis type 6
c.*1951A>G Single submitter mucopolysaccharidosis type 6
c.*1989C>T Single submitter mucopolysaccharidosis type 6
c.*2080G>A Single submitter mucopolysaccharidosis type 6
c.*2092A>T Single submitter mucopolysaccharidosis type 6
c.*212A>G Single submitter mucopolysaccharidosis type 6
c.*2155C>T Single submitter mucopolysaccharidosis type 6
c.*2158C>T Single submitter mucopolysaccharidosis type 6
c.*2164T>A Single submitter mucopolysaccharidosis type 6
c.*2251G>A Single submitter mucopolysaccharidosis type 6
c.*2287C>T Single submitter mucopolysaccharidosis type 6
c.*2524A>T Single submitter mucopolysaccharidosis type 6
c.*2525A>T Single submitter mucopolysaccharidosis type 6
c.*2526T>A Single submitter mucopolysaccharidosis type 6
c.*2559G>A Single submitter mucopolysaccharidosis type 6
c.*2571A>G Single submitter mucopolysaccharidosis type 6
c.*2578A>T Single submitter mucopolysaccharidosis type 6
c.*2593T>G Single submitter mucopolysaccharidosis type 6
c.*2608G>A Single submitter mucopolysaccharidosis type 6
c.*2672A>G Single submitter mucopolysaccharidosis type 6
c.*2680C>T Single submitter mucopolysaccharidosis type 6
c.*2684G>A Single submitter mucopolysaccharidosis type 6
c.*2707C>T Single submitter mucopolysaccharidosis type 6
c.*2708G>A Single submitter mucopolysaccharidosis type 6
c.*2784C>A Single submitter mucopolysaccharidosis type 6
c.*2831T>A Single submitter mucopolysaccharidosis type 6
c.*3047T>C Single submitter mucopolysaccharidosis type 6
c.*3147G>A Single submitter mucopolysaccharidosis type 6
c.*3152A>G Single submitter mucopolysaccharidosis type 6
c.*3163T>C Single submitter mucopolysaccharidosis type 6
c.*3174T>G Single submitter mucopolysaccharidosis type 6
c.*3181T>A Single submitter mucopolysaccharidosis type 6
c.*340A>C Single submitter mucopolysaccharidosis type 6
c.*384T>A Single submitter mucopolysaccharidosis type 6
c.*420A>G Single submitter mucopolysaccharidosis type 6
c.*608G>A Single submitter mucopolysaccharidosis type 6
c.*618C>T Single submitter mucopolysaccharidosis type 6
c.*619G>T Single submitter mucopolysaccharidosis type 6
c.*635C>G Single submitter mucopolysaccharidosis type 6
c.*793T>A Single submitter mucopolysaccharidosis type 6
c.*810C>T Single submitter mucopolysaccharidosis type 6
c.*922C>T Single submitter mucopolysaccharidosis type 6
c.*933C>T Single submitter mucopolysaccharidosis type 6
c.*965A>G Single submitter mucopolysaccharidosis type 6
c.*990C>T Single submitter mucopolysaccharidosis type 6
c.*994C>A Single submitter mucopolysaccharidosis type 6
p.Ala283Pro Single submitter mucopolysaccharidosis type 6 ⚠
p.Ala411Thr Single submitter mucopolysaccharidosis type 6 ⚠
p.Ala411Val Single submitter mucopolysaccharidosis type 6 ⚠
p.Ala431Asp Single submitter mucopolysaccharidosis type 6 ⚠
p.Ala431Pro Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg106Cys Single submitter ⚠
p.Arg152Leu Single submitter ⚠
p.Arg16Gly Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg191Gln Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg315Gly Single submitter ⚠
p.Arg345Gln Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg345Trp Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg388Thr Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg434Ile Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg479Trp Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg489Lys Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg4Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg520Cys Single submitter mucopolysaccharidosis type 6 ⚠
p.Arg520His Single submitter Inborn genetic diseases ⚠
p.Asn291Lys Single submitter mucopolysaccharidosis type 6 ⚠
p.Asn344Lys Single submitter ⚠
p.Asn366Asp Single submitter Inborn genetic diseases ⚠
p.Asn394Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Asp125Gly Single submitter Inborn genetic diseases ⚠
p.Asp163Val Single submitter Inborn genetic diseases ⚠
p.Asp174Asn Single submitter Inborn genetic diseases ⚠
p.Asp198Gly Single submitter mucopolysaccharidosis type 6 ⚠
p.Asp372Gly Single submitter mucopolysaccharidosis type 6 ⚠
p.Asp401Ala Single submitter Inborn genetic diseases ⚠
p.Asp401Gly Single submitter Inborn genetic diseases ⚠
p.Asp466Gly Single submitter mucopolysaccharidosis type 6 ⚠
p.Asp486Val Single submitter mucopolysaccharidosis type 6 ⚠
p.Asp518Glu Single submitter mucopolysaccharidosis type 6 ⚠
p.Asp54His Single submitter ⚠
p.Cys121Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Cys155Tyr Single submitter mucopolysaccharidosis type 6 ⚠
p.Cys91Tyr Single submitter mucopolysaccharidosis type 6 ⚠
p.Gln104Arg Single submitter ⚠
p.Gln131His Single submitter mucopolysaccharidosis type 6 ⚠
p.Gln239Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Gln88His Single submitter mucopolysaccharidosis type 6 ⚠
p.Gln97His Single submitter mucopolysaccharidosis type 6 ⚠
p.Glu173Lys Single submitter mucopolysaccharidosis type 6 ⚠
p.Glu229Lys Single submitter Inborn genetic diseases ⚠
p.Glu243_Pro244delinsAspSer Single submitter mucopolysaccharidosis type 6
p.Glu490Lys Single submitter mucopolysaccharidosis type 6 ⚠
p.Gly12Asp Single submitter Inborn genetic diseases ⚠
p.Gly137Val Single submitter mucopolysaccharidosis type 6 ⚠
p.Gly446Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Gly446Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Gly448Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Gly530Val Single submitter Inborn genetic diseases ⚠
p.Gly56Asp Single submitter mucopolysaccharidosis type 6 ⚠
p.Gly78Ser Single submitter Inborn genetic diseases ⚠
p.His111Pro Single submitter mucopolysaccharidosis type 6 ⚠
p.His178Cys Single submitter mucopolysaccharidosis type 6
p.His242Pro Single submitter mucopolysaccharidosis type 6 ⚠
p.His349Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.His364Tyr Single submitter mucopolysaccharidosis type 6 ⚠
p.His393Tyr Single submitter ⚠
p.His430Asn Single submitter mucopolysaccharidosis type 6 ⚠
p.His46Tyr Single submitter mucopolysaccharidosis type 6 ⚠
p.His506Arg Single submitter Inborn genetic diseases ⚠
p.Ile296Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu129del Single submitter mucopolysaccharidosis type 6
p.Leu238His Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu252Trp Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu306Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu32_Ala33insLeu Single submitter mucopolysaccharidosis type 6
p.Leu321Arg Single submitter Inborn genetic diseases ⚠
p.Leu472Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu47Met Single submitter Inborn genetic diseases ⚠
p.Leu81Phe Single submitter mucopolysaccharidosis type 6 ⚠
p.Leu98Met Single submitter ⚠
p.Lys134Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Lys145Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Lys230Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Lys343Met Single submitter mucopolysaccharidosis type 6 ⚠
p.Lys439Glu Single submitter mucopolysaccharidosis type 6 ⚠
p.Lys497Asn Single submitter mucopolysaccharidosis type 6 ⚠
p.Lys524Glu Single submitter Inborn genetic diseases ⚠
p.Met142Ile Single submitter ⚠
p.Met150Val Single submitter mucopolysaccharidosis type 6 ⚠
p.Met209Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Met269Thr Single submitter mucopolysaccharidosis type 6 ⚠
p.Met273Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Phe297Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Phe399Cys Single submitter ⚠
p.Pro116His Single submitter mucopolysaccharidosis type 6 ⚠
p.Pro119_Ser120delinsArg Single submitter mucopolysaccharidosis type 6
p.Pro15Ala Single submitter mucopolysaccharidosis type 6 ⚠
p.Pro227Gln Single submitter mucopolysaccharidosis type 6 ⚠
p.Pro3Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Pro404Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Pro445= Single submitter
p.Pro453Leu Single submitter Inborn genetic diseases ⚠
p.Pro463Thr Single submitter mucopolysaccharidosis type 6 ⚠
p.Pro467Thr Single submitter Inborn genetic diseases ⚠
p.Pro531Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Pro93Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Pro93Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Ser240Phe Single submitter mucopolysaccharidosis type 6 ⚠
p.Ser409Arg Single submitter Inborn genetic diseases ⚠
p.Ser417Phe Single submitter mucopolysaccharidosis type 6 ⚠
p.Ser464Leu Single submitter Inborn genetic diseases ⚠
p.Ser465Leu Single submitter Inborn genetic diseases ⚠
p.Ser500Phe Single submitter mucopolysaccharidosis type 6 ⚠
p.Ser96Gly Single submitter ⚠
p.Ter534Gln Single submitter mucopolysaccharidosis type 6
p.Thr100Ala Single submitter Inborn genetic diseases ⚠
p.Thr140Pro Single submitter mucopolysaccharidosis type 6 ⚠
p.Thr164del Single submitter mucopolysaccharidosis type 6
p.Thr212Ile Single submitter mucopolysaccharidosis type 6 ⚠
p.Thr224Ser Single submitter Inborn genetic diseases ⚠
p.Thr299Ile Single submitter mucopolysaccharidosis type 6 ⚠
p.Thr379Ser Single submitter Inborn genetic diseases ⚠
p.Thr469Ala Single submitter Inborn genetic diseases ⚠
p.Thr471Ala Single submitter Inborn genetic diseases ⚠
p.Thr87Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Thr92Ala Single submitter ⚠
p.Trp146Arg Single submitter mucopolysaccharidosis type 6 ⚠
p.Trp146Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Trp146Ser Single submitter mucopolysaccharidosis type 6 ⚠
p.Trp450Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Trp532Ter Single submitter
p.Tyr138Cys Single submitter mucopolysaccharidosis type 6 ⚠
p.Tyr175Asp Single submitter mucopolysaccharidosis type 6 ⚠
p.Tyr206Cys Single submitter mucopolysaccharidosis type 6 ⚠
p.Tyr255Cys Single submitter Inborn genetic diseases ⚠
p.Tyr505= Single submitter mucopolysaccharidosis type 6
p.Val22Asp Single submitter Inborn genetic diseases ⚠
p.Val280Ile Single submitter mucopolysaccharidosis type 6 ⚠
p.Val294Met Single submitter ⚠
p.Val326Ile Single submitter mucopolysaccharidosis type 6 ⚠
p.Val358Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Val400Leu Single submitter mucopolysaccharidosis type 6 ⚠
p.Val48Ala Single submitter Inborn genetic diseases ⚠
p.Val528_Trp532del Single submitter mucopolysaccharidosis type 6
c.1336+2_1336+3dup No assertion criteria mucopolysaccharidosis type 6
c.691-2429_691-2428insTGATAATCGATGTTACACTTTATAGAAAGAATATGATAAAAAATTTAACTTTTTTTTCTCTTTTCTCGATCACAAAAAGTGTATGAATACCGAGTATCGTAATCACCTATACTTAAATTGAATCCTGAGTTTCCACAGAGGTTAGTGTCACAAACCCTGGGGTGACGTCGTGTGTCAGTGGATCCTTGGACGGAGTCTCACTTGTCAGACACCAGTTAAAGGGTGTGAGGGATTTCAGGTTTGTCTTACTGAGTGCCGAGTGTTGACAGTCGGGATTTCGGTCGTCGACTCGGTAGTGCCTCGGGACTAGAGTAGGTGGGACGAAAAAGAGATCCAGGTCTAGGAAACTAGGAAA No assertion criteria schizophrenia
c.898+5G>A No assertion criteria mucopolysaccharidosis type 6
p.Arg317Gly No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Arg43Trp No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Arg66Cys No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Asn311Lys No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Asn458Lys No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Asp480Tyr No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Gly443= No assertion criteria mucopolysaccharidosis type 6
p.Gly64Ser No assertion criteria mucopolysaccharidosis type 6 ⚠
p.His46Asn No assertion criteria mucopolysaccharidosis type 6 ⚠
p.His63Tyr No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Leu502Ile No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Leu90= No assertion criteria mucopolysaccharidosis type 6
p.Lys134Thr No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Lys153Glu No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Lys217Glu No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Lys470Asn No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Met273Arg No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Phe166Ser No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Pro254Ser No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Pro34Leu No assertion criteria ⚠
p.Pro370Leu No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Ser240= No assertion criteria mucopolysaccharidosis type 6
p.Ser409= No assertion criteria mucopolysaccharidosis type 6
p.Thr100Pro No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Thr224Ile No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Tyr85Asp No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Val277Gly No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Val326Leu No assertion criteria mucopolysaccharidosis type 6 ⚠
p.Val329Met No assertion criteria mucopolysaccharidosis type 6 ⚠