GLB1 — 1177 ClinVar variants

All ClinVar germline GLB1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 302 flagged for review →

117 Pathogenic · 80 Pathogenic/Likely pathogenic · 122 Likely pathogenic · 59 Conflicting · 55 Benign · 16 Benign/Likely benign · 473 Likely benign · 255 Uncertain significance

Full GLB1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 302

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 35

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

GLB1 p.Arg201Cys Pathogenic/Likely pathogenic Multiple submitters
GLB1-related disorder
GLB1 p.Arg201His Pathogenic/Likely pathogenic Multiple submitters
GLB1-related disorder
GLB1 p.Arg208Cys Pathogenic Multiple submitters
GLB1-related disorder
GLB1 p.Arg419Trp Pathogenic/Likely pathogenic Multiple submitters
GM1 gangliosidosis
GLB1 p.Arg442Gln Pathogenic/Likely pathogenic Multiple submitters
GM1 gangliosidosis
GLB1 p.Arg457Gln Pathogenic/Likely pathogenic Multiple submitters
GLB1-related disorder
GLB1 p.Arg482His Pathogenic Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Arg49His Pathogenic/Likely pathogenic Multiple submitters
Inborn genetic diseases
GLB1 p.Arg68Gln Pathogenic/Likely pathogenic Multiple submitters
GM1 gangliosidosis type 3
GLB1 p.Asn437Ile Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Asp151Asn Likely pathogenic Multiple submitters
GM1 gangliosidosis
GLB1 p.Cys426Gly Pathogenic/Likely pathogenic Multiple submitters
GLB1-related disorder
GLB1 p.His112Pro Pathogenic/Likely pathogenic Multiple submitters
Autosomal recessive GLB1-related disorders
GLB1 p.Leu147Phe Likely pathogenic Multiple submitters
GM1 gangliosidosis type 1
GLB1 p.Leu155Arg Pathogenic Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Lys578Arg Pathogenic/Likely pathogenic Multiple submitters
GLB1-related disorder
GLB1 p.Met480Val Likely pathogenic Multiple submitters
GM1 gangliosidosis type 3
GLB1 p.Thr500Ala Pathogenic Multiple submitters
GLB1-related disorder
GLB1 p.Thr82Met Pathogenic/Likely pathogenic Multiple submitters
Inborn genetic diseases
GLB1 p.Tyr237Cys Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Tyr36Cys Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Gly438Ala Likely pathogenic Single submitter
GM1 gangliosidosis
GLB1 p.His102Asp Pathogenic Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ile354Val Likely pathogenic Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ile51Leu Likely pathogenic Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Leu173Phe Likely pathogenic Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Leu173Val Likely pathogenic Single submitter
GM1 gangliosidosis
GLB1 p.Leu337Val Likely pathogenic Single submitter
GM1 gangliosidosis
GLB1 p.Pro85Ser Likely pathogenic Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ser54Gly Likely pathogenic Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Thr500Ser Likely pathogenic Single submitter
GM1 gangliosidosis
GLB1 p.Tyr174Cys Likely pathogenic Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Val240Met Pathogenic Single submitter
mucopolysaccharidosis type 4B
GLB1 p.His440Tyr Pathogenic No assertion criteria
GM1 gangliosidosis type 1
GLB1 p.Tyr316Cys Pathogenic/Likely pathogenic No assertion criteria
mucopolysaccharidosis type 4B

Predictors agree, ClinVar conflicts 31

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

GLB1 p.Arg109Pro Conflicting Single submitter
GM1 gangliosidosis type 1
GLB1 p.Arg208His Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Arg38Gln Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Arg419Gln Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Arg530Cys Conflicting Single submitter
Inborn genetic diseases
GLB1 p.Arg590Gly Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Arg59Leu Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Asn437Ser Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Asp448Asn Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Asp671Gly Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Cys127Phe Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Gln572Arg Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Gly319Glu Conflicting Single submitter
GLB1-related disorder
GLB1 p.Gly481Glu Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.His534Arg Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Leu11Val Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Leu69Pro Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Lys261Arg Conflicting Single submitter
GLB1-related disorder
GLB1 p.Lys493Asn Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Met307Ile Conflicting Single submitter
GLB1-related disorder
GLB1 p.Pro136Leu Conflicting Single submitter
GM1 gangliosidosis type 1
GLB1 p.Pro429Leu Conflicting Single submitter
Inborn genetic diseases
GLB1 p.Pro429Ser Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Pro549Ser Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Ser191Ile Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ser302Asn Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Thr21Ala Conflicting Single submitter
Inborn genetic diseases
GLB1 p.Thr510Met Conflicting Single submitter
Inborn genetic diseases
GLB1 p.Tyr270Cys Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Tyr324Cys Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Tyr50His Conflicting Single submitter
mucopolysaccharidosis type 4B

Predictors lean, ClinVar uncertain 159

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 159

GLB1 p.Ala223Gly Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Ala538Thr Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Ala79Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Arg351Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GLB1 p.Arg595Gln Uncertain significance Multiple submitters
Inborn genetic diseases
GLB1 p.Arg595Trp Uncertain significance Multiple submitters
Inborn genetic diseases
GLB1 p.Asn26Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Asn545Asp Uncertain significance Multiple submitters
Inborn genetic diseases
GLB1 p.Asp275Glu Uncertain significance Multiple submitters
Inborn genetic diseases
GLB1 p.Asp295Gly Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Asp651Asn Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Cys521Tyr Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Gln408Arg Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Gly23Asp Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Gly596Asp Uncertain significance Multiple submitters
GM1 gangliosidosis type 2
GLB1 p.His523Arg Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Ile126Val Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Ile558Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Leu274Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Lys410Gln Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Lys73Arg Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Phe357Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Pro2Thr Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Pro403Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Pro666Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Ser292Cys Uncertain significance Multiple submitters
Inborn genetic diseases
GLB1 p.Thr21Met Uncertain significance Multiple submitters
Inborn genetic diseases
GLB1 p.Thr507Met Uncertain significance Multiple submitters
Inborn genetic diseases
GLB1 p.Thr547Met Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Thr637Met Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Val14Leu Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Val639Met Uncertain significance Multiple submitters
Inborn genetic diseases
GLB1 p.Ala156Val Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ala194Val Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ala301Glu Uncertain significance Single submitter
GLB1 p.Ala326Val Uncertain significance Single submitter
GLB1 p.Ala519Val Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ala624Thr Uncertain significance Single submitter
GLB1 p.Ala635Ser Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Arg109Gln Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Arg121Ser Uncertain significance Single submitter
GLB1 p.Arg206His Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Arg208Leu Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Arg482Leu Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Arg660Lys Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Arg7Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Asn428Ser Uncertain significance Single submitter
GLB1 p.Asn459Ser Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Asn479Lys Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Asp196His Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Asp198His Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Asp342Glu Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Asp441Gly Uncertain significance Single submitter
GM1 gangliosidosis type 1
GLB1 p.Asp474Gly Uncertain significance Single submitter
GM1 gangliosidosis type 1
GLB1 p.Asp564Glu Uncertain significance Single submitter
GLB1 p.Cys258Tyr Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Cys634Tyr Uncertain significance Single submitter
GLB1 p.Gln175Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Gln279Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Gln279His Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Gln29His Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Gln411Pro Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Gln452His Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Gln580Glu Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Glu129Lys Uncertain significance Single submitter
GLB1 p.Glu131Lys Uncertain significance Single submitter
GLB1 p.Glu287Lys Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Glu362Lys Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Gly178Trp Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Gly23Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Gly341Val Uncertain significance Single submitter
GM1 gangliosidosis type 3
GLB1 p.Gly363Asp Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Gly414Glu Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Gly494Asp Uncertain significance Single submitter
GLB1 p.His209Tyr Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.His224Asp Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.His529Tyr Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.His535Arg Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Ile126Leu Uncertain significance Single submitter
GLB1 p.Ile284Val Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Ile34Thr Uncertain significance Single submitter
GLB1 p.Ile365Met Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Ile450Met Uncertain significance Single submitter
GLB1 p.Ile465Val Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Ile511Met Uncertain significance Single submitter
GLB1 p.Ile583Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ile644Thr Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Leu139Met Uncertain significance Single submitter
GLB1 p.Leu297Arg Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Leu305Phe Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Leu337Gln Uncertain significance Single submitter
GLB1 p.Leu379Val Uncertain significance Single submitter
GLB1 p.Leu392Arg Uncertain significance Single submitter
GLB1 p.Leu401Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Leu401Ile Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Leu401Pro Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Leu417Pro Uncertain significance Single submitter
GLB1 p.Leu436Val Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Leu475Phe Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Leu548His Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Leu633Val Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Leu661Phe Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Leu70Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Lys578Gln Uncertain significance Single submitter
GLB1 p.Lys670Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Lys670Glu Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Met553Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Phe269Ser Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Phe48Leu Uncertain significance Single submitter
GLB1-related disorder
GLB1 p.Phe63Tyr Uncertain significance Single submitter
GM1 gangliosidosis type 1
GLB1 p.Pro152Thr Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Pro280Ala Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Pro280Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Pro2Ala Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Pro2Leu Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Pro403Leu Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Pro451Ser Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Pro513Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Pro574Leu Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Pro625Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Pro664Ser Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Pro85Thr Uncertain significance Single submitter
GM1 gangliosidosis type 2
GLB1 p.Pro91Thr Uncertain significance Single submitter
GLB1 p.Pro93Gln Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ser282Phe Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ser302Ile Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Ser400Arg Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Ser427Gly Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ser434Thr Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Ser502Asn Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ser503Tyr Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Ser58Phe Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Ser611Ala Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Ser611Thr Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Ser627Arg Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Ser628Asn Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Ser654Ala Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Ser99Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Thr238Ala Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Thr405Ile Uncertain significance Single submitter
GLB1-related disorder
GLB1 p.Thr421Ala Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Thr462Ala Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Thr507Pro Uncertain significance Single submitter
GLB1 p.Thr547Pro Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Thr569Ile Uncertain significance Single submitter
GLB1 p.Trp161Cys Uncertain significance Single submitter
GLB1-related disorder
GLB1 p.Trp161Leu Uncertain significance Single submitter
GLB1 p.Trp273Cys Uncertain significance Single submitter
GLB1 p.Trp277Arg Uncertain significance Single submitter
GLB1 p.Trp539Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4B

Predictors split 77

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

GLB1 p.Ala315Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Ala340Thr Uncertain significance Multiple submitters
Inborn genetic diseases
GLB1 p.Arg206Cys Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Arg299Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Arg62Cys Uncertain significance Multiple submitters
GM1 gangliosidosis type 3
GLB1 p.Asn484Lys Pathogenic/Likely pathogenic Multiple submitters
GM1 gangliosidosis type 3
GLB1 p.Gly438Glu Pathogenic Multiple submitters
GLB1-related disorder
GLB1 p.His56Gln Uncertain significance Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Leu501Val Uncertain significance Multiple submitters
GM1 gangliosidosis
GLB1 p.Ser191Asn Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Tyr174His Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4B
GLB1 p.Ala111Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ala251Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ala301Gly Uncertain significance Single submitter
GLB1 p.Arg49Cys Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Arg595Pro Likely pathogenic Single submitter
GLB1 p.Arg68Leu Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Asn247Asp Uncertain significance Single submitter
GM1 gangliosidosis type 1
GLB1 p.Asn304Ser Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Asn313Asp Likely pathogenic Single submitter
GM1 gangliosidosis
GLB1 p.Asn313Ser Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Asp151Tyr Likely pathogenic Single submitter
GM1 gangliosidosis
GLB1 p.Asp425His Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Asp491Asn Conflicting Single submitter
GM1 gangliosidosis type 1
GLB1 p.Asp640Tyr Uncertain significance Single submitter
GLB1 p.Glu268Gln Pathogenic Single submitter
GM1 gangliosidosis
GLB1 p.Glu90Gln Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Gly235Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Gly585Ser Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Gly94Glu Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.His281Arg Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ile119Met Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Ile126Thr Uncertain significance Single submitter
GLB1 p.Ile145Thr Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Ile571Phe Uncertain significance Single submitter
GLB1 p.Leu233Met Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Leu343Phe Uncertain significance Single submitter
GM1 gangliosidosis type 1
GLB1 p.Leu422Phe Uncertain significance Single submitter
GLB1 p.Leu476Val Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Leu506Ile Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Leu506Phe Uncertain significance Single submitter
GLB1 p.Leu619Met Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Lys43Arg Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Phe63Leu Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Phe88Leu Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Pro260His Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Pro323Ala Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Pro328Ser Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Pro367Leu Uncertain significance Single submitter
GLB1 p.Pro367Ser Uncertain significance Single submitter
GM1 gangliosidosis type 1
GLB1 p.Pro566His Pathogenic Single submitter
GM1 gangliosidosis
GLB1 p.Pro566Ser Likely pathogenic Single submitter
GLB1 p.Pro604Ala Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ser191Thr Conflicting Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ser302Thr Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Ser395Cys Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Ser395Phe Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Ser40Phe Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Thr182Arg Uncertain significance Single submitter
GM1 gangliosidosis type 1
GLB1 p.Thr238Ile Uncertain significance Single submitter
GM1 gangliosidosis type 2
GLB1 p.Thr344Ala Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Thr420Ala Conflicting Single submitter
GM1 gangliosidosis
GLB1 p.Trp317Cys Uncertain significance Single submitter
GLB1-related disorder
GLB1 p.Tyr192His Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Tyr324Phe Uncertain significance Single submitter
GLB1 p.Tyr333Phe Uncertain significance Single submitter
GLB1 p.Tyr374His Uncertain significance Single submitter
GM1 gangliosidosis
GLB1 p.Tyr374Phe Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Tyr413Cys Uncertain significance Single submitter
Inborn genetic diseases
GLB1 p.Tyr488Cys Uncertain significance Single submitter
GLB1 p.Tyr64Cys Conflicting Single submitter
GM1 gangliosidosis type 2
GLB1 p.Val216Ala Uncertain significance Single submitter
GLB1 p.Val445Ile Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Val618Met Uncertain significance Single submitter
mucopolysaccharidosis type 4B
GLB1 p.Ala635Pro Uncertain significance No assertion criteria
ependymoma
GLB1 p.Asn266Ser Uncertain significance No assertion criteria
GM1 gangliosidosis type 3
GLB1 p.Glu620Asp Uncertain significance No assertion criteria
GLB1-related neurodegeneration

All GLB1 variants

Pathogenic 117

c.1479+1G>A Multiple submitters GM1 gangliosidosis
c.1480-2A>G Multiple submitters Inborn genetic diseases
c.245+1G>A Multiple submitters GM1 gangliosidosis
c.733+1G>A Multiple submitters GM1 gangliosidosis
c.75+2dup Multiple submitters GLB1-related disorder
p.Ala301Val Multiple submitters GLB1-related disorder
p.Arg208Cys Multiple submitters GLB1-related disorder ⚠
p.Arg351Ter Multiple submitters spastic ataxia
p.Arg457Ter Multiple submitters GLB1-related disorder
p.Arg482His Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Arg590Cys Multiple submitters GLB1-related disorder
p.Arg68Trp Multiple submitters GLB1-related disorder
p.Asn504fs Multiple submitters GM1 gangliosidosis
p.Asn545fs Multiple submitters lysosomal storage disease
p.Asp198Ter Multiple submitters mucopolysaccharidosis type 4B
p.Asp441Asn Multiple submitters GM1 gangliosidosis type 1
p.Glu188Ter Multiple submitters GM1 gangliosidosis type 1
p.Gly123Arg Multiple submitters GLB1-related disorder
p.Gly278fs Multiple submitters GM1 gangliosidosis type 3
p.Gly438Glu Multiple submitters GLB1-related disorder ⚠
p.His281Tyr Multiple submitters mucopolysaccharidosis type 4B
p.His534fs Multiple submitters GM1 gangliosidosis type 3
p.Ile51Thr Multiple submitters mucopolysaccharidosis type 4B
p.Leu155Arg Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Leu18fs Multiple submitters mucopolysaccharidosis type 4B
p.Leu293_Tyr294insTer Multiple submitters mucopolysaccharidosis type 4B
p.Lys142fs Multiple submitters mucopolysaccharidosis type 4B
p.Pro549Leu Multiple submitters GM1 gangliosidosis type 1
p.Thr283fs Multiple submitters mucopolysaccharidosis type 4B
p.Thr500Ala Multiple submitters GLB1-related disorder ⚠
p.Trp130Ter Multiple submitters mucopolysaccharidosis type 4B
p.Trp527fs Multiple submitters GLB1-related disorder
p.Trp527Ter Multiple submitters mucopolysaccharidosis type 4B
p.Trp582Ter Multiple submitters GM1 gangliosidosis
p.Trp92Ter Multiple submitters GLB1-related disorder
p.Tyr57Ter Multiple submitters mucopolysaccharidosis type 4B
p.Val360fs Multiple submitters GM1 gangliosidosis
c.1348-2A>G Single submitter mucopolysaccharidosis type 4B
c.1479+1G>C Single submitter mucopolysaccharidosis type 4B
c.1480-2A>T Single submitter mucopolysaccharidosis type 4B
c.245+1G>C Single submitter GM1 gangliosidosis
c.246-2A>G Single submitter mucopolysaccharidosis type 4B
c.552+1G>A Single submitter mucopolysaccharidosis type 4B
c.553-1G>C Single submitter GM1 gangliosidosis
c.553-2A>G Single submitter mucopolysaccharidosis type 4B
c.69_75+1del Single submitter GM1 gangliosidosis
c.733+6T>C Single submitter GM1 gangliosidosis
c.734-2A>G Single submitter mucopolysaccharidosis type 4B
c.75+4dup Single submitter GM1 gangliosidosis type 1
c.955+2T>A Single submitter GLB1-related disorder
c.955+5G>A Single submitter mucopolysaccharidosis type 4B
c.956-2A>G Single submitter GLB1-related disorder
p.Asn187fs Single submitter mucopolysaccharidosis type 4B
p.Asn437fs Single submitter GM1 gangliosidosis
p.Asp332fs Single submitter GM1 gangliosidosis
p.Asp448fs Single submitter mucopolysaccharidosis type 4B
p.Asp531delinsProTer Single submitter GM1 gangliosidosis
p.Asp568Gly Single submitter mucopolysaccharidosis type 4B
p.Cys258Ter Single submitter mucopolysaccharidosis type 4B
p.Gln184Ter Single submitter mucopolysaccharidosis type 4B
p.Gln279Ter Single submitter mucopolysaccharidosis type 4B
p.Gln355Ter Single submitter mucopolysaccharidosis type 4B
p.Gln408_Val409insTer Single submitter mucopolysaccharidosis type 4B
p.Gln411Ter Single submitter mucopolysaccharidosis type 4B
p.Gln572Ter Single submitter GM1 gangliosidosis
p.Glu143fs Single submitter mucopolysaccharidosis type 4B
p.Glu268Gln Single submitter GM1 gangliosidosis ⚠
p.Glu456fs Single submitter GM1 gangliosidosis
p.Gly115fs Single submitter GM1 gangliosidosis
p.Gly133Ter Single submitter GM1 gangliosidosis
p.Gly134Arg Single submitter mucopolysaccharidosis type 4B
p.Gly134Val Single submitter GM1 gangliosidosis
p.Gly481Ter Single submitter mucopolysaccharidosis type 4B
p.Gly525fs Single submitter GM1 gangliosidosis
p.Gly528fs Single submitter mucopolysaccharidosis type 4B
p.Gly528Ter Single submitter mucopolysaccharidosis type 4B
p.Gly579Asp Single submitter GM1 gangliosidosis
p.His102Asp Single submitter mucopolysaccharidosis type 4B ⚠
p.His529fs Single submitter mucopolysaccharidosis type 4B
p.His89Leu Single submitter GM1 gangliosidosis type 1
p.Ile398fs Single submitter GM1 gangliosidosis
p.Ile55fs Single submitter GM1 gangliosidosis
p.Leu162fs Single submitter GM1 gangliosidosis
p.Leu173del Single submitter mucopolysaccharidosis type 4B
p.Leu24fs Single submitter GM1 gangliosidosis
p.Leu463fs Single submitter mucopolysaccharidosis type 4B
p.Leu463Pro Single submitter mucopolysaccharidosis type 4B
p.Leu473fs Single submitter GM1 gangliosidosis
p.Lys142Ter Single submitter mucopolysaccharidosis type 4B
p.Lys383fs Single submitter GM1 gangliosidosis
p.Phe197fs Single submitter mucopolysaccharidosis type 4B
p.Pro566His Single submitter GM1 gangliosidosis ⚠
p.Ser302fs Single submitter mucopolysaccharidosis type 4B
p.Ser427fs Single submitter GM1 gangliosidosis
p.Ser497_Asn498insPheLysPheIleLeuLeuIleIleLeuGlyCysPheSerGlnArgGlyIleTrpGlnGlyHisGlyThrXaaXaaXaaPheTyrPheLeuArgArgSerLeuAlaLeuLeuSerGlyTrpSerAlaValValGlnSerArgLeuThrAlaThrArgValTrpPheLeu Single submitter GM1 gangliosidosis
p.Ser543Ter Single submitter GLB1-related disorder
p.Thr220_Asp221insTer Single submitter mucopolysaccharidosis type 4B
p.Thr226fs Single submitter GM1 gangliosidosis
p.Trp161Ter Single submitter mucopolysaccharidosis type 4B
p.Trp273Arg Single submitter GLB1-related disorder
p.Trp539Ter Single submitter
p.Trp576Ter Single submitter mucopolysaccharidosis type 4B
p.Tyr347Cys Single submitter GM1 gangliosidosis
p.Tyr418Ter Single submitter GM1 gangliosidosis
p.Tyr552fs Single submitter GM1 gangliosidosis
p.Tyr57fs Single submitter
p.Val158fs Single submitter mucopolysaccharidosis type 4B
p.Val240Met Single submitter mucopolysaccharidosis type 4B ⚠
c.1069_1233dup No assertion criteria GM1 gangliosidosis type 1
c.672_673delAT No assertion criteria GM1 gangliosidosis type 1
c.75+2T>G No assertion criteria mucopolysaccharidosis type 4B
p.Gln95fs No assertion criteria GM1 gangliosidosis type 1
p.His440Tyr No assertion criteria GM1 gangliosidosis type 1 ⚠
p.Phe308Leu No assertion criteria GM1 gangliosidosis type 1
p.Pro397fs No assertion criteria GM1 gangliosidosis type 1
p.Tyr591Asn No assertion criteria GM1-gangliosidosis, type I, with cardiac involvement
p.Tyr83His No assertion criteria mucopolysaccharidosis type 4B

Pathogenic/Likely pathogenic 80

c.1144-2A>G Multiple submitters mucopolysaccharidosis type 4B
c.1233+1G>A Multiple submitters GM1 gangliosidosis
c.1480-1G>C Multiple submitters GM1 gangliosidosis type 2
c.396+2T>C Multiple submitters GM1 gangliosidosis
c.397-1G>A Multiple submitters mucopolysaccharidosis type 4B
c.457+2T>C Multiple submitters mucopolysaccharidosis type 4B
c.553-2A>T Multiple submitters mucopolysaccharidosis type 4B
c.65_75+1del Multiple submitters GM1 gangliosidosis type 1
c.733+2T>C Multiple submitters mucopolysaccharidosis type 4B
c.75+1G>C Multiple submitters Inborn genetic diseases
c.769_792+13del Multiple submitters GM1 gangliosidosis type 3
c.955+2T>G Multiple submitters mucopolysaccharidosis type 4B
p.Ala232fs Multiple submitters GM1 gangliosidosis
p.Ala446fs Multiple submitters mucopolysaccharidosis type 4B
p.Arg148Ser Multiple submitters mucopolysaccharidosis type 4B
p.Arg201Cys Multiple submitters GLB1-related disorder ⚠
p.Arg201His Multiple submitters GLB1-related disorder ⚠
p.Arg419Trp Multiple submitters GM1 gangliosidosis ⚠
p.Arg442Gln Multiple submitters GM1 gangliosidosis ⚠
p.Arg442Ter Multiple submitters mucopolysaccharidosis type 4B
p.Arg457Gln Multiple submitters GLB1-related disorder ⚠
p.Arg482Cys Multiple submitters mucopolysaccharidosis type 4B
p.Arg49His Multiple submitters Inborn genetic diseases ⚠
p.Arg590His Multiple submitters progressive familial intrahepatic cholestasis
p.Arg59Cys Multiple submitters mucopolysaccharidosis type 4B
p.Arg59His Multiple submitters GLB1-related disorder
p.Arg68Gln Multiple submitters GM1 gangliosidosis type 3 ⚠
p.Asn437Ile Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Asn484Lys Multiple submitters GM1 gangliosidosis type 3 ⚠
p.Asn669fs Multiple submitters GLB1-related disorder
p.Asp151Val Multiple submitters mucopolysaccharidosis type 4B
p.Asp332Asn Multiple submitters GM1 gangliosidosis type 3
p.Asp448Val Multiple submitters GM1 gangliosidosis
p.Cys426Gly Multiple submitters GLB1-related disorder ⚠
p.Gln234fs Multiple submitters GLB1-related disorder
p.Gln567Ter Multiple submitters mucopolysaccharidosis type 4B
p.Glu186Ala Multiple submitters lysosomal storage disease
p.Gly178fs Multiple submitters mucopolysaccharidosis type 4B
p.Gly190Asp Multiple submitters mucopolysaccharidosis type 4B
p.Gly262Ala Multiple submitters mucopolysaccharidosis type 4B
p.Gly262Glu Multiple submitters mucopolysaccharidosis type 4B
p.Gly262Val Multiple submitters mucopolysaccharidosis type 4B
p.Gly311Arg Multiple submitters GM1 gangliosidosis type 3
p.Gly467fs Multiple submitters mucopolysaccharidosis type 4B
p.Gly494Val Multiple submitters GM1 gangliosidosis
p.Gly526fs Multiple submitters mucopolysaccharidosis type 4B
p.His112Pro Multiple submitters Autosomal recessive GLB1-related disorders ⚠
p.Ile145fs Multiple submitters GM1 gangliosidosis
p.Ile51Asn Multiple submitters GM1 gangliosidosis type 2
p.Leu147del Multiple submitters GM1 gangliosidosis
p.Leu173Pro Multiple submitters mucopolysaccharidosis type 4B
p.Leu337Pro Multiple submitters GM1 gangliosidosis
p.Leu392fs Multiple submitters GM1 gangliosidosis type 3
p.Lys346Asn Multiple submitters GM1 gangliosidosis type 1
p.Lys381fs Multiple submitters GM1 gangliosidosis
p.Lys383Ter Multiple submitters mucopolysaccharidosis type 4B
p.Lys578Arg Multiple submitters GLB1-related disorder ⚠
p.Met132Thr Multiple submitters GM1 gangliosidosis type 1
p.Phe357fs Multiple submitters GM1 gangliosidosis type 1
p.Ser149Phe Multiple submitters GM1 gangliosidosis type 2
p.Ser191Asn Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Ser322fs Multiple submitters mucopolysaccharidosis type 4B
p.Ser433fs Multiple submitters mucopolysaccharidosis type 4B
p.Thr239Met Multiple submitters lysosomal storage disease
p.Thr420Pro Multiple submitters mucopolysaccharidosis type 4B
p.Thr82Met Multiple submitters Inborn genetic diseases ⚠
p.Trp161Gly Multiple submitters mucopolysaccharidosis type 4B
p.Trp273Leu Multiple submitters GM1 gangliosidosis type 3
p.Trp273Ter Multiple submitters mucopolysaccharidosis type 4B
p.Trp509Cys Multiple submitters mucopolysaccharidosis type 4B
p.Trp86Ter Multiple submitters mucopolysaccharidosis type 4B
p.Tyr237Cys Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Tyr270Asp Multiple submitters GLB1-related disorder
p.Tyr333Cys Multiple submitters GM1 gangliosidosis
p.Tyr36Cys Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Tyr485Cys Multiple submitters GM1 gangliosidosis
p.Tyr50Cys Multiple submitters mucopolysaccharidosis type 4B
p.Tyr591Cys Multiple submitters mucopolysaccharidosis type 4B
p.Tyr83Cys Multiple submitters GM1 gangliosidosis
p.Tyr316Cys No assertion criteria mucopolysaccharidosis type 4B ⚠

Likely pathogenic 122

c.1347+1G>T Multiple submitters GM1 gangliosidosis
c.734-8A>G Multiple submitters GLB1-related disorder
c.915-1G>T Multiple submitters GM1 gangliosidosis
p.Arg148Leu Multiple submitters mucopolysaccharidosis type 4B
p.Arg49Pro Multiple submitters GM1 gangliosidosis type 1
p.Asn490del Multiple submitters mucopolysaccharidosis type 4B
p.Asp151Asn Multiple submitters GM1 gangliosidosis ⚠
p.Asp491Tyr Multiple submitters GM1 gangliosidosis
p.Gln598Ter Multiple submitters GM1 gangliosidosis type 1
p.Leu147Phe Multiple submitters GM1 gangliosidosis type 1 ⚠
p.Leu608Pro Multiple submitters mucopolysaccharidosis type 4B
p.Met1Ile Multiple submitters GM1 gangliosidosis type 1
p.Met480Val Multiple submitters GM1 gangliosidosis type 3 ⚠
p.Phe107Leu Multiple submitters GM1 gangliosidosis
p.Phe556Ser Multiple submitters GM1 gangliosidosis
p.Pro613fs Multiple submitters mucopolysaccharidosis type 4B
p.Ser54Asn Multiple submitters GM1 gangliosidosis
p.Tyr174His Multiple submitters mucopolysaccharidosis type 4B ⚠
c.1143+1G>T Single submitter mucopolysaccharidosis type 4B
c.1233+1G>T Single submitter mucopolysaccharidosis type 4B
c.1234-1G>T Single submitter mucopolysaccharidosis type 4B
c.1347+1G>A Single submitter GLB1-related disorder
c.1347+2del Single submitter GM1 gangliosidosis
c.1348-3C>G Single submitter mucopolysaccharidosis type 4B
c.1480-1G>A Single submitter mucopolysaccharidosis type 4B
c.246-17_246-3del Single submitter GM1 gangliosidosis type 1
c.552+2T>C Single submitter GM1 gangliosidosis
c.76-1G>T Single submitter mucopolysaccharidosis type 4B
c.902_914+17delinsAGGCAAGTATATACTTGCC Single submitter
c.914+4A>G Single submitter GM1 gangliosidosis
c.915-2A>G Single submitter mucopolysaccharidosis type 4B
p.Ala157fs Single submitter GM1 gangliosidosis type 1
p.Ala301Thr Single submitter
p.Ala320Thr Single submitter
p.Ala335Val Single submitter
p.Arg419Pro Single submitter mucopolysaccharidosis type 4B
p.Arg590Ser Single submitter GM1 gangliosidosis
p.Arg595Pro Single submitter ⚠
p.Arg68Gly Single submitter mucopolysaccharidosis type 4B
p.Arg68Pro Single submitter
p.Asn313Asp Single submitter GM1 gangliosidosis ⚠
p.Asn321fs Single submitter GLB1-related disorder
p.Asp151Tyr Single submitter GM1 gangliosidosis ⚠
p.Asp159= Single submitter GLB1-related disorder
p.Asp342fs Single submitter GLB1-related disorder
p.Asp44Tyr Single submitter GM1 gangliosidosis type 1
p.Asp564fs Single submitter mucopolysaccharidosis type 4B
p.Cys127Tyr Single submitter mucopolysaccharidosis type 4B
p.Cys230Tyr Single submitter mucopolysaccharidosis type 4B
p.Gln255His Single submitter mucopolysaccharidosis type 4B
p.Gln279fs Single submitter GLB1-related disorder
p.Gln408Pro Single submitter mucopolysaccharidosis type 4B
p.Gln46Ter Single submitter mucopolysaccharidosis type 4B
p.Gln580Arg Single submitter GM1 gangliosidosis
p.Gln605fs Single submitter mucopolysaccharidosis type 4B
p.Gln97Ter Single submitter GM1 gangliosidosis type 1
p.Glu129Gln Single submitter GM1 gangliosidosis type 1
p.Glu259Ter Single submitter GLB1-related disorder
p.Glu287Ter Single submitter GM1 gangliosidosis type 2
p.Gly163fs Single submitter GLB1-related disorder
p.Gly190Val Single submitter GM1 gangliosidosis type 1
p.Gly311Glu Single submitter mucopolysaccharidosis type 4B
p.Gly438Ala Single submitter GM1 gangliosidosis ⚠
p.Gly438Ter Single submitter GLB1-related disorder
p.Gly438Val Single submitter mucopolysaccharidosis type 4B
p.Gly554Arg Single submitter mucopolysaccharidosis type 4B
p.His276Pro Single submitter GM1 gangliosidosis
p.Ile354Val Single submitter mucopolysaccharidosis type 4B ⚠
p.Ile489fs Single submitter GM1 gangliosidosis type 1
p.Ile51Leu Single submitter mucopolysaccharidosis type 4B ⚠
p.Leu11fs Single submitter GM1 gangliosidosis type 1
p.Leu12fs Single submitter mucopolysaccharidosis type 4B
p.Leu139Gln Single submitter GM1 gangliosidosis type 1
p.Leu146fs Single submitter GM1 gangliosidosis type 1
p.Leu162Ser Single submitter mucopolysaccharidosis type 4B
p.Leu16fs Single submitter GM1 gangliosidosis type 1
p.Leu172fs Single submitter GM1 gangliosidosis type 1
p.Leu173Phe Single submitter mucopolysaccharidosis type 4B ⚠
p.Leu173Val Single submitter GM1 gangliosidosis ⚠
p.Leu200fs Single submitter GM1 gangliosidosis type 1
p.Leu337Val Single submitter GM1 gangliosidosis ⚠
p.Leu422Arg Single submitter lysosomal storage disease
p.Leu77fs Single submitter GLB1-related disorder
p.Lys160fs Single submitter mucopolysaccharidosis type 4B
p.Lys578Asn Single submitter mucopolysaccharidosis type 4B
p.Met1Leu Single submitter
p.Phe314Cys Single submitter
p.Phe415fs Single submitter GM1 gangliosidosis type 1
p.Pro124Ser Single submitter GM1 gangliosidosis
p.Pro167fs Single submitter GLB1-related disorder
p.Pro263Ser Single submitter GM1 gangliosidosis
p.Pro397Ser Single submitter mucopolysaccharidosis type 4B
p.Pro566Ser Single submitter ⚠
p.Pro664fs Single submitter GM1 gangliosidosis type 3
p.Pro85Ser Single submitter mucopolysaccharidosis type 4B ⚠
p.Ser330Ile Single submitter GM1 gangliosidosis type 3
p.Ser54Gly Single submitter mucopolysaccharidosis type 4B ⚠
p.Thr466fs Single submitter mucopolysaccharidosis type 4B
p.Thr500Ser Single submitter GM1 gangliosidosis ⚠
p.Trp138Ter Single submitter mucopolysaccharidosis type 4B
p.Trp509Ter Single submitter mucopolysaccharidosis type 4B
p.Tyr154Ter Single submitter GM1 gangliosidosis type 1
p.Tyr174Asp Single submitter mucopolysaccharidosis type 4B
p.Tyr174Cys Single submitter mucopolysaccharidosis type 4B ⚠
p.Tyr174Ser Single submitter GM1 gangliosidosis
p.Tyr306Ter Single submitter GLB1-related disorder
p.Tyr324Ser Single submitter mucopolysaccharidosis type 4B
p.Tyr374Ter Single submitter GLB1-related disorder
p.Tyr591His Single submitter mucopolysaccharidosis type 4B
p.Tyr591Ser Single submitter GM1 gangliosidosis
p.Tyr96Ter Single submitter GM1 gangliosidosis type 1
p.Val164fs Single submitter GM1 gangliosidosis type 1
p.Val216fs Single submitter mucopolysaccharidosis type 4B
p.Val460fs Single submitter GLB1-related disorder
p.Val581Gly Single submitter mucopolysaccharidosis type 4B
c.733+2_733+4del No assertion criteria GM1 gangliosidosis type 3
p.Asp101fs No assertion criteria GM1 gangliosidosis type 3
p.Gln175Ter No assertion criteria GM1 gangliosidosis type 3
p.Glu537Ter No assertion criteria GM1 gangliosidosis type 3
p.His209fs No assertion criteria GM1 gangliosidosis type 3
p.Leu501fs No assertion criteria GM1 gangliosidosis type 3
p.Trp317Ter No assertion criteria GM1 gangliosidosis type 1

Conflicting classifications of pathogenicity 59

c.1068+4G>A Single submitter mucopolysaccharidosis type 4B
c.1069-4A>G Single submitter GM1 gangliosidosis
c.1234-11T>A Single submitter mucopolysaccharidosis type 4B
c.1347+10G>A Single submitter GM1 gangliosidosis
c.1348-7C>T Single submitter mucopolysaccharidosis type 4B
c.1479+11C>T Single submitter mucopolysaccharidosis type 4B
c.1480-8C>G Single submitter GM1 gangliosidosis
c.734-6T>A Single submitter GM1 gangliosidosis
c.-25C>G Single submitter GM1 gangliosidosis
c.-48G>C Single submitter mucopolysaccharidosis type 4B
c.*319G>A Single submitter GM1 gangliosidosis
p.Arg109Pro Single submitter GM1 gangliosidosis type 1 ⚠
p.Arg208His Single submitter mucopolysaccharidosis type 4B ⚠
p.Arg38Gln Single submitter GM1 gangliosidosis ⚠
p.Arg419Gln Single submitter GM1 gangliosidosis ⚠
p.Arg49Cys Single submitter mucopolysaccharidosis type 4B ⚠
p.Arg530Cys Single submitter Inborn genetic diseases ⚠
p.Arg590Gly Single submitter GM1 gangliosidosis ⚠
p.Arg59Leu Single submitter GM1 gangliosidosis ⚠
p.Arg68Leu Single submitter GM1 gangliosidosis ⚠
p.Asn313Ser Single submitter GM1 gangliosidosis ⚠
p.Asn437Ser Single submitter mucopolysaccharidosis type 4B ⚠
p.Asn78= Single submitter mucopolysaccharidosis type 4B
p.Asp448Asn Single submitter GM1 gangliosidosis ⚠
p.Asp491Asn Single submitter GM1 gangliosidosis type 1 ⚠
p.Asp671Gly Single submitter mucopolysaccharidosis type 4B ⚠
p.Cys127Phe Single submitter GM1 gangliosidosis ⚠
p.Gln572Arg Single submitter GM1 gangliosidosis ⚠
p.Gly178= Single submitter mucopolysaccharidosis type 4B
p.Gly319Glu Single submitter GLB1-related disorder ⚠
p.Gly481Glu Single submitter GM1 gangliosidosis ⚠
p.His281Arg Single submitter mucopolysaccharidosis type 4B ⚠
p.His534Arg Single submitter mucopolysaccharidosis type 4B ⚠
p.Ile365= Single submitter mucopolysaccharidosis type 4B
p.Leu11Val Single submitter mucopolysaccharidosis type 4B ⚠
p.Leu166del Single submitter mucopolysaccharidosis type 4B
p.Leu69Pro Single submitter mucopolysaccharidosis type 4B ⚠
p.Lys261Arg Single submitter GLB1-related disorder ⚠
p.Lys493Asn Single submitter GM1 gangliosidosis ⚠
p.Lys670fs Single submitter mucopolysaccharidosis type 4B
p.Met307Ile Single submitter GLB1-related disorder ⚠
p.Pro136Leu Single submitter GM1 gangliosidosis type 1 ⚠
p.Pro328Ser Single submitter mucopolysaccharidosis type 4B ⚠
p.Pro429Leu Single submitter Inborn genetic diseases ⚠
p.Pro429Ser Single submitter mucopolysaccharidosis type 4B ⚠
p.Pro549Ser Single submitter GM1 gangliosidosis ⚠
p.Ser191Ile Single submitter mucopolysaccharidosis type 4B ⚠
p.Ser191Thr Single submitter mucopolysaccharidosis type 4B ⚠
p.Ser302Asn Single submitter GM1 gangliosidosis ⚠
p.Thr21Ala Single submitter Inborn genetic diseases ⚠
p.Thr344= Single submitter GM1 gangliosidosis
p.Thr420Ala Single submitter GM1 gangliosidosis ⚠
p.Thr510= Single submitter GM1 gangliosidosis
p.Thr510Met Single submitter Inborn genetic diseases ⚠
p.Tyr237= Single submitter mucopolysaccharidosis type 4B
p.Tyr270Cys Single submitter mucopolysaccharidosis type 4B ⚠
p.Tyr324Cys Single submitter GM1 gangliosidosis ⚠
p.Tyr50His Single submitter mucopolysaccharidosis type 4B ⚠
p.Tyr64Cys Single submitter GM1 gangliosidosis type 2 ⚠

Benign 55

c.1068+264G>A Multiple submitters
c.1233+174G>T Multiple submitters
c.1233+218C>T Multiple submitters
c.1480-149T>C Multiple submitters
c.1480-74C>G Multiple submitters
c.246-194A>G Multiple submitters
c.396+122C>A Multiple submitters
c.458-11T>C Multiple submitters GM1 gangliosidosis
c.553-119A>G Multiple submitters
c.734-112T>C Multiple submitters GM1 gangliosidosis type 1
c.734-99G>T Multiple submitters GM1 gangliosidosis type 1
c.76-4426C>T Multiple submitters GM1 gangliosidosis type 1
c.76-4746T>C Multiple submitters
c.793-132T>G Multiple submitters
c.793-185C>G Multiple submitters
c.955+60A>G Multiple submitters GM1 gangliosidosis type 1
c.956-118G>C Multiple submitters
c.956-190C>G Multiple submitters
c.-37C>G Multiple submitters GM1 gangliosidosis
c.*354T>C Multiple submitters GM1 gangliosidosis
p.Cys521= Multiple submitters GM1 gangliosidosis
p.Cys521Arg Multiple submitters mucopolysaccharidosis type 4B
p.Leu12= Multiple submitters mucopolysaccharidosis type 4B
p.Pro10Leu Multiple submitters GM1 gangliosidosis
c.1068+217G>T Single submitter
c.1069-231G>A Single submitter
c.1144-256C>G Single submitter
c.1234-177C>T Single submitter
c.1347+194G>T Single submitter
c.1347+208A>G Single submitter
c.1348-5dup Single submitter mucopolysaccharidosis type 4B
c.1479+204A>G Single submitter
c.1480-272T>C Single submitter
c.1480-320C>A Single submitter
c.1734+188C>T Single submitter
c.1734+233C>T Single submitter
c.246-252A>C Single submitter
c.457+154C>T Single submitter
c.457+235A>G Single submitter
c.457+283T>C Single submitter
c.458-13del Single submitter mucopolysaccharidosis type 4B
c.76-16del Single submitter mucopolysaccharidosis type 4B
c.76-4483G>A Single submitter
c.792+231G>A Single submitter
c.792+250G>C Single submitter
c.793-14dup Single submitter GM1 gangliosidosis
c.793-19C>T Single submitter GM1 gangliosidosis
c.955+123dup Single submitter
c.955+139dup Single submitter
c.955+142_955+143insTTTTCTTTT Single submitter
c.955+144T>C Single submitter
c.955+154del Single submitter
c.955+93del Single submitter
c.*182A>G Single submitter GM1 gangliosidosis
p.Pro403= Single submitter mucopolysaccharidosis type 4B

Benign/Likely benign 16

c.1143+14del Multiple submitters mucopolysaccharidosis type 4B
c.1143+14dup Multiple submitters mucopolysaccharidosis type 4B
c.1233+8T>C Multiple submitters GM1 gangliosidosis type 1
c.1234-17A>T Multiple submitters GM1 gangliosidosis
c.552+21G>A Multiple submitters
c.733+78A>G Multiple submitters mucopolysaccharidosis type 4B
c.734-80G>A Multiple submitters mucopolysaccharidosis type 4B
c.792+10G>T Multiple submitters GM1 gangliosidosis type 1
c.792+18G>A Multiple submitters GM1 gangliosidosis
p.Arg109Trp Multiple submitters GM1 gangliosidosis
p.Gln452= Multiple submitters mucopolysaccharidosis type 4B
p.Gly526Asp Multiple submitters mucopolysaccharidosis type 4B
p.Ile398Val Multiple submitters Inborn genetic diseases
p.Leu436Phe Multiple submitters mucopolysaccharidosis type 4B
p.Leu608= Multiple submitters mucopolysaccharidosis type 4B
p.Phe252= Multiple submitters GM1 gangliosidosis

Likely benign 473

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

c.1069-8G>T Multiple submitters mucopolysaccharidosis type 4B
c.1143+28G>C Multiple submitters
c.1143+47G>A Multiple submitters
c.1233+36A>G Multiple submitters
c.1348-16G>A Multiple submitters mucopolysaccharidosis type 4B
c.1480-4G>T Multiple submitters GM1 gangliosidosis
c.1734+169G>A Multiple submitters
c.1735-10C>G Multiple submitters mucopolysaccharidosis type 4B
c.1735-15TC[7] Multiple submitters GM1 gangliosidosis
c.245+141A>T Multiple submitters
c.245+44A>C Multiple submitters
c.246-140G>A Multiple submitters
c.396+61G>A Multiple submitters
c.552+18C>T Multiple submitters GM1 gangliosidosis
c.734-10C>A Multiple submitters mucopolysaccharidosis type 4B
c.75+90G>T Multiple submitters
c.76-4376G>A Multiple submitters
c.792+19G>A Multiple submitters mucopolysaccharidosis type 4B
c.793-69T>C Multiple submitters
c.914+17T>C Multiple submitters mucopolysaccharidosis type 4B
p.Ala349= Multiple submitters GM1 gangliosidosis
p.Ala519= Multiple submitters mucopolysaccharidosis type 4B
p.Arg442= Multiple submitters mucopolysaccharidosis type 4B
p.Gln605= Multiple submitters GM1 gangliosidosis
p.Glu358= Multiple submitters GM1 gangliosidosis
p.Gly23= Multiple submitters mucopolysaccharidosis type 4B
p.Gly231= Multiple submitters mucopolysaccharidosis type 4B
p.Gly438= Multiple submitters GM1 gangliosidosis
p.Leu162= Multiple submitters mucopolysaccharidosis type 4B
p.Leu417= Multiple submitters mucopolysaccharidosis type 4B
p.Leu524= Multiple submitters GM1 gangliosidosis
p.Leu548= Multiple submitters GM1 gangliosidosis
p.Leu661= Multiple submitters GM1 gangliosidosis
p.Phe227= Multiple submitters GM1 gangliosidosis
p.Phe512= Multiple submitters GM1 gangliosidosis
p.Pro367= Multiple submitters mucopolysaccharidosis type 4B
p.Pro549= Multiple submitters GM1 gangliosidosis
p.Pro566= Multiple submitters mucopolysaccharidosis type 4B
p.Pro666= Multiple submitters mucopolysaccharidosis type 4B
p.Ser150= Multiple submitters GM1 gangliosidosis
p.Thr182= Multiple submitters GM1 gangliosidosis
p.Thr283= Multiple submitters mucopolysaccharidosis type 4B
p.Thr286= Multiple submitters mucopolysaccharidosis type 4B
p.Thr507= Multiple submitters GM1 gangliosidosis
p.Tyr374= Multiple submitters GM1 gangliosidosis
p.Val104= Multiple submitters mucopolysaccharidosis type 4B
c.1068+14A>G Single submitter mucopolysaccharidosis type 4B
c.1068+18G>A Single submitter mucopolysaccharidosis type 4B
c.1068+18G>C Single submitter mucopolysaccharidosis type 4B
c.1068+18G>T Single submitter GM1 gangliosidosis
c.1068+20T>C Single submitter mucopolysaccharidosis type 4B
c.1068+291A>C Single submitter
c.1068+7G>A Single submitter mucopolysaccharidosis type 4B
c.1069-17T>G Single submitter mucopolysaccharidosis type 4B
c.1069-19T>C Single submitter GM1 gangliosidosis
c.1069-20T>C Single submitter mucopolysaccharidosis type 4B
c.1069-8G>A Single submitter mucopolysaccharidosis type 4B
c.1143+11A>G Single submitter mucopolysaccharidosis type 4B
c.1143+12A>G Single submitter
c.1143+15del Single submitter GM1 gangliosidosis
c.1143+16A>T Single submitter mucopolysaccharidosis type 4B
c.1143+20_1143+21del Single submitter mucopolysaccharidosis type 4B
c.1144-12G>A Single submitter GM1 gangliosidosis
c.1144-18G>C Single submitter mucopolysaccharidosis type 4B
c.1144-4T>C Single submitter GM1 gangliosidosis
c.1144-8C>G Single submitter mucopolysaccharidosis type 4B
c.1233+10del Single submitter mucopolysaccharidosis type 4B
c.1233+12A>G Single submitter mucopolysaccharidosis type 4B
c.1233+13A>C Single submitter mucopolysaccharidosis type 4B
c.1233+15del Single submitter mucopolysaccharidosis type 4B
c.1233+15G>A Single submitter mucopolysaccharidosis type 4B
c.1233+19T>C Single submitter mucopolysaccharidosis type 4B
c.1233+91G>C Single submitter mucopolysaccharidosis type 4B
c.1234-10T>G Single submitter GM1 gangliosidosis
c.1234-13C>A Single submitter mucopolysaccharidosis type 4B
c.1234-13C>G Single submitter mucopolysaccharidosis type 4B
c.1234-19T>A Single submitter GM1 gangliosidosis
c.1234-20T>G Single submitter GM1 gangliosidosis
c.1234-307G>A Single submitter
c.1234-8C>G Single submitter GM1 gangliosidosis
c.1234-8C>T Single submitter mucopolysaccharidosis type 4B
c.1347+12C>T Single submitter mucopolysaccharidosis type 4B
c.1347+13T>G Single submitter mucopolysaccharidosis type 4B
c.1347+14C>T Single submitter GM1 gangliosidosis
c.1347+16G>C Single submitter mucopolysaccharidosis type 4B
c.1347+18A>C Single submitter mucopolysaccharidosis type 4B
c.1347+19C>T Single submitter mucopolysaccharidosis type 4B
c.1347+20T>C Single submitter mucopolysaccharidosis type 4B
c.1347+7A>G Single submitter mucopolysaccharidosis type 4B
c.1347+9C>A Single submitter mucopolysaccharidosis type 4B
c.1347+9C>T Single submitter GM1 gangliosidosis
c.1348-16del Single submitter mucopolysaccharidosis type 4B
c.1348-7C>G Single submitter mucopolysaccharidosis type 4B
c.1479+13A>G Single submitter mucopolysaccharidosis type 4B
c.1479+17T>C Single submitter mucopolysaccharidosis type 4B
c.1479+19T>C Single submitter mucopolysaccharidosis type 4B
c.1479+20C>G Single submitter mucopolysaccharidosis type 4B
c.1479+7C>T Single submitter mucopolysaccharidosis type 4B
c.1480-12T>G Single submitter mucopolysaccharidosis type 4B
c.1480-16T>C Single submitter mucopolysaccharidosis type 4B
c.1480-20G>C Single submitter GM1 gangliosidosis
c.1480-295A>G Single submitter
c.1480-5T>C Single submitter GM1 gangliosidosis
c.1480-8del Single submitter GM1 gangliosidosis
c.1480-9G>A Single submitter mucopolysaccharidosis type 4B
c.1734+13A>G Single submitter mucopolysaccharidosis type 4B
c.1734+13A>T Single submitter mucopolysaccharidosis type 4B
c.1734+14T>C Single submitter mucopolysaccharidosis type 4B
c.1735-10C>T Single submitter GM1 gangliosidosis
c.1735-12C>G Single submitter mucopolysaccharidosis type 4B
c.1735-15TC[4] Single submitter GM1 gangliosidosis
c.1735-15TC[5] Single submitter GM1 gangliosidosis
c.1735-16_1735-9dup Single submitter GM1 gangliosidosis
c.1735-16G>C Single submitter mucopolysaccharidosis type 4B
c.1735-4C>G Single submitter mucopolysaccharidosis type 4B
c.1735-8C>G Single submitter GM1 gangliosidosis
c.1735-8C>T Single submitter GM1 gangliosidosis
c.245+10A>T Single submitter mucopolysaccharidosis type 4B
c.245+13G>A Single submitter mucopolysaccharidosis type 4B
c.245+16T>C Single submitter mucopolysaccharidosis type 4B
c.245+19G>A Single submitter mucopolysaccharidosis type 4B
c.245+19G>T Single submitter mucopolysaccharidosis type 4B
c.246-10G>A Single submitter mucopolysaccharidosis type 4B
c.246-10G>T Single submitter GM1 gangliosidosis
c.246-11T>G Single submitter mucopolysaccharidosis type 4B
c.246-13T>C Single submitter mucopolysaccharidosis type 4B
c.246-16G>C Single submitter mucopolysaccharidosis type 4B
c.246-18C>T Single submitter mucopolysaccharidosis type 4B
c.246-19G>C Single submitter GM1 gangliosidosis
c.246-20G>A Single submitter mucopolysaccharidosis type 4B
c.246-20G>C Single submitter mucopolysaccharidosis type 4B
c.396+10G>T Single submitter mucopolysaccharidosis type 4B
c.396+11C>G Single submitter GM1 gangliosidosis
c.396+14G>T Single submitter mucopolysaccharidosis type 4B
c.396+15A>G Single submitter mucopolysaccharidosis type 4B
c.396+18G>T Single submitter mucopolysaccharidosis type 4B
c.396+20G>A Single submitter mucopolysaccharidosis type 4B
c.396+7G>T Single submitter GM1 gangliosidosis
c.396+9G>A Single submitter mucopolysaccharidosis type 4B
c.397-10C>T Single submitter mucopolysaccharidosis type 4B
c.397-11C>T Single submitter mucopolysaccharidosis type 4B
c.397-16G>C Single submitter GM1 gangliosidosis
c.397-17T>C Single submitter mucopolysaccharidosis type 4B
c.397-19C>T Single submitter GM1 gangliosidosis
c.397-5A>G Single submitter GM1 gangliosidosis
c.397-7G>C Single submitter GM1 gangliosidosis
c.397-8T>C Single submitter GM1 gangliosidosis
c.457+11dup Single submitter mucopolysaccharidosis type 4B
c.457+12C>A Single submitter mucopolysaccharidosis type 4B
c.457+14G>A Single submitter mucopolysaccharidosis type 4B
c.457+15A>G Single submitter GM1 gangliosidosis
c.457+19C>T Single submitter mucopolysaccharidosis type 4B
c.457+20T>C Single submitter mucopolysaccharidosis type 4B
c.457+53C>A Single submitter
c.458-13T>C Single submitter mucopolysaccharidosis type 4B
c.458-14T>A Single submitter mucopolysaccharidosis type 4B
c.458-5T>C Single submitter GM1 gangliosidosis
c.552+13T>A Single submitter mucopolysaccharidosis type 4B
c.552+19A>G Single submitter GM1 gangliosidosis
c.552+7C>G Single submitter mucopolysaccharidosis type 4B
c.552+8T>C Single submitter mucopolysaccharidosis type 4B
c.553-17T>C Single submitter mucopolysaccharidosis type 4B
c.553-20T>C Single submitter mucopolysaccharidosis type 4B
c.733+10T>C Single submitter mucopolysaccharidosis type 4B
c.733+11G>A Single submitter mucopolysaccharidosis type 4B
c.733+13A>T Single submitter GM1 gangliosidosis
c.733+20G>A Single submitter GM1 gangliosidosis
c.733+42T>A Single submitter
c.733+7G>A Single submitter mucopolysaccharidosis type 4B
c.734-10C>T Single submitter mucopolysaccharidosis type 4B
c.734-116del Single submitter
c.734-11A>G Single submitter mucopolysaccharidosis type 4B
c.734-11dup Single submitter mucopolysaccharidosis type 4B
c.734-14C>G Single submitter mucopolysaccharidosis type 4B
c.734-14C>T Single submitter GM1 gangliosidosis
c.734-16C>T Single submitter mucopolysaccharidosis type 4B
c.734-17C>T Single submitter mucopolysaccharidosis type 4B
c.75+10C>T Single submitter GM1 gangliosidosis
c.75+16C>A Single submitter mucopolysaccharidosis type 4B
c.75+16C>T Single submitter mucopolysaccharidosis type 4B
c.75+17C>G Single submitter GM1 gangliosidosis
c.75+19G>A Single submitter mucopolysaccharidosis type 4B
c.75+20G>A Single submitter mucopolysaccharidosis type 4B
c.75+7C>G Single submitter mucopolysaccharidosis type 4B
c.75+8del Single submitter GM1 gangliosidosis
c.75+9G>A Single submitter mucopolysaccharidosis type 4B
c.76-12C>A Single submitter mucopolysaccharidosis type 4B
c.76-17C>T Single submitter GM1 gangliosidosis
c.76-288A>G Single submitter
c.76-4373A>G Single submitter
c.76-4391G>A Single submitter
c.76-4414C>T Single submitter
c.76-4429G>A Single submitter
c.76-4450T>C Single submitter
c.76-4520G>A Single submitter
c.76-4532G>T Single submitter
c.76-4G>A Single submitter GM1 gangliosidosis
c.76-5T>C Single submitter mucopolysaccharidosis type 4B
c.76-9_76-8delinsAA Single submitter mucopolysaccharidosis type 4B
c.76-9G>A Single submitter GM1 gangliosidosis
c.76-9G>T Single submitter GM1 gangliosidosis
c.792+10G>A Single submitter GM1 gangliosidosis
c.792+10G>C Single submitter GM1 gangliosidosis
c.792+16G>C Single submitter mucopolysaccharidosis type 4B
c.792+187C>G Single submitter
c.792+18G>C Single submitter mucopolysaccharidosis type 4B
c.792+9C>A Single submitter GM1 gangliosidosis
c.792+9C>T Single submitter mucopolysaccharidosis type 4B
c.793-13T>G Single submitter mucopolysaccharidosis type 4B
c.793-18G>A Single submitter GM1 gangliosidosis
c.793-20A>G Single submitter mucopolysaccharidosis type 4B
c.793-246A>G Single submitter
c.793-9T>A Single submitter mucopolysaccharidosis type 4B
c.914+15C>T Single submitter GM1 gangliosidosis
c.914+18G>T Single submitter mucopolysaccharidosis type 4B
c.914+7G>C Single submitter GM1 gangliosidosis
c.915-10T>C Single submitter GM1 gangliosidosis
c.915-11T>G Single submitter mucopolysaccharidosis type 4B
c.915-14T>C Single submitter mucopolysaccharidosis type 4B
c.915-17C>A Single submitter mucopolysaccharidosis type 4B
c.915-18del Single submitter mucopolysaccharidosis type 4B
c.915-18T>C Single submitter mucopolysaccharidosis type 4B
c.915-4G>A Single submitter mucopolysaccharidosis type 4B
c.915-8C>G Single submitter mucopolysaccharidosis type 4B
c.955+10C>T Single submitter mucopolysaccharidosis type 4B
c.955+142_955+143insTTTTCT Single submitter
c.955+14A>C Single submitter mucopolysaccharidosis type 4B
c.955+206A>G Single submitter
c.955+24G>A Single submitter
c.955+300G>A Single submitter
c.955+8C>T Single submitter GM1 gangliosidosis
c.956-14T>C Single submitter GM1 gangliosidosis
c.956-18C>T Single submitter GM1 gangliosidosis
c.956-19G>A Single submitter mucopolysaccharidosis type 4B
c.956-19G>T Single submitter mucopolysaccharidosis type 4B
c.956-4C>A Single submitter mucopolysaccharidosis type 4B
c.956-6T>C Single submitter GM1 gangliosidosis
c.-11G>A Single submitter
c.*184G>A Single submitter GM1 gangliosidosis
c.*376C>G Single submitter GM1 gangliosidosis
p.Ala128= Single submitter mucopolysaccharidosis type 4B
p.Ala137= Single submitter GM1 gangliosidosis
p.Ala223= Single submitter mucopolysaccharidosis type 4B
p.Ala232= Single submitter mucopolysaccharidosis type 4B
p.Ala27= Single submitter mucopolysaccharidosis type 4B
p.Ala301= Single submitter GM1 gangliosidosis
p.Ala315= Single submitter mucopolysaccharidosis type 4B
p.Ala325= Single submitter GM1 gangliosidosis
p.Ala340= Single submitter GM1 gangliosidosis
p.Ala373= Single submitter mucopolysaccharidosis type 4B
p.Ala443= Single submitter mucopolysaccharidosis type 4B
p.Ala446= Single submitter GM1 gangliosidosis
p.Ala540= Single submitter GM1 gangliosidosis
p.Ala550= Single submitter GM1 gangliosidosis
p.Ala635= Single submitter mucopolysaccharidosis type 4B
p.Arg109= Single submitter mucopolysaccharidosis type 4B
p.Arg121= Single submitter GM1 gangliosidosis
p.Arg148= Single submitter GM1 gangliosidosis
p.Arg208= Single submitter mucopolysaccharidosis type 4B
p.Arg22= Single submitter GM1 gangliosidosis
p.Arg256= Single submitter GM1 gangliosidosis
p.Arg38= Single submitter mucopolysaccharidosis type 4B
p.Arg419= Single submitter GM1 gangliosidosis
p.Arg595= Single submitter mucopolysaccharidosis type 4B
p.Arg660= Single submitter GM1 gangliosidosis
p.Arg68= Single submitter mucopolysaccharidosis type 4B
p.Asn187= Single submitter GM1 gangliosidosis
p.Asn26= Single submitter mucopolysaccharidosis type 4B
p.Asn304= Single submitter GM1 gangliosidosis
p.Asn321= Single submitter mucopolysaccharidosis type 4B
p.Asn352= Single submitter mucopolysaccharidosis type 4B
p.Asn428Asp Single submitter Inborn genetic diseases
p.Asn437= Single submitter mucopolysaccharidosis type 4B
p.Asn459= Single submitter mucopolysaccharidosis type 4B
p.Asn490= Single submitter GM1 gangliosidosis
p.Asn504= Single submitter GM1 gangliosidosis
p.Asn504Ser Single submitter GM1 gangliosidosis
p.Asn545= Single submitter mucopolysaccharidosis type 4B
p.Asn555= Single submitter mucopolysaccharidosis type 4B
p.Asn584= Single submitter mucopolysaccharidosis type 4B
p.Asn587= Single submitter mucopolysaccharidosis type 4B
p.Asn614= Single submitter mucopolysaccharidosis type 4B
p.Asn669= Single submitter GM1 gangliosidosis
p.Asn87= Single submitter mucopolysaccharidosis type 4B
p.Asp213= Single submitter GM1 gangliosidosis
p.Asp221= Single submitter
p.Asp250= Single submitter mucopolysaccharidosis type 4B
p.Asp275= Single submitter mucopolysaccharidosis type 4B
p.Asp35= Single submitter mucopolysaccharidosis type 4B
p.Asp390Gly Single submitter mucopolysaccharidosis type 4B
p.Asp44= Single submitter GM1 gangliosidosis
p.Asp515= Single submitter mucopolysaccharidosis type 4B
p.Asp531= Single submitter GM1 gangliosidosis
p.Asp564= Single submitter mucopolysaccharidosis type 4B
p.Asp568= Single submitter mucopolysaccharidosis type 4B
p.Gln279= Single submitter mucopolysaccharidosis type 4B
p.Gln327= Single submitter mucopolysaccharidosis type 4B
p.Gln408= Single submitter mucopolysaccharidosis type 4B
p.Gln46= Single submitter mucopolysaccharidosis type 4B
p.Gln567= Single submitter mucopolysaccharidosis type 4B

Uncertain significance 255

c.246-16GT[2] Multiple submitters mucopolysaccharidosis type 4B
c.75+3A>G Multiple submitters GM1 gangliosidosis
p.Ala223Gly Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Ala315Asp Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Ala340Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala538Thr Multiple submitters GM1 gangliosidosis ⚠
p.Ala79Thr Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Arg206Cys Multiple submitters GM1 gangliosidosis ⚠
p.Arg299Cys Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Arg351Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg595Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg595Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg62Cys Multiple submitters GM1 gangliosidosis type 3 ⚠
p.Asn26Ser Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Asn545Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp275Glu Multiple submitters Inborn genetic diseases ⚠
p.Asp295Gly Multiple submitters GM1 gangliosidosis ⚠
p.Asp651Asn Multiple submitters GM1 gangliosidosis ⚠
p.Cys521Tyr Multiple submitters GM1 gangliosidosis ⚠
p.Gln408Arg Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Gly23Asp Multiple submitters GM1 gangliosidosis ⚠
p.Gly596Asp Multiple submitters GM1 gangliosidosis type 2 ⚠
p.His523Arg Multiple submitters GM1 gangliosidosis ⚠
p.His56Gln Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Ile126Val Multiple submitters GM1 gangliosidosis ⚠
p.Ile558Val Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Leu274Pro Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Leu501Val Multiple submitters GM1 gangliosidosis ⚠
p.Lys410Gln Multiple submitters GM1 gangliosidosis ⚠
p.Lys668Ter Multiple submitters GM1 gangliosidosis type 3
p.Lys73Arg Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Phe357Leu Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Pro2Thr Multiple submitters GM1 gangliosidosis ⚠
p.Pro403Ser Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Pro666Leu Multiple submitters mucopolysaccharidosis type 4B ⚠
p.Ser292Cys Multiple submitters Inborn genetic diseases ⚠
p.Thr21Met Multiple submitters Inborn genetic diseases ⚠
p.Thr507Met Multiple submitters Inborn genetic diseases ⚠
p.Thr547Met Multiple submitters GM1 gangliosidosis ⚠
p.Thr637Met Multiple submitters GM1 gangliosidosis ⚠
p.Val14Leu Multiple submitters GM1 gangliosidosis ⚠
p.Val639Met Multiple submitters Inborn genetic diseases ⚠
c.1068+1G>T Single submitter GM1 gangliosidosis type 1
c.1143+3A>C Single submitter GM1 gangliosidosis
c.1143+5G>A Single submitter GM1 gangliosidosis
c.1234-3C>A Single submitter mucopolysaccharidosis type 4B
c.1734+4C>T Single submitter GM1 gangliosidosis
c.245+192A>C Single submitter
c.245+3A>G Single submitter mucopolysaccharidosis type 4B
c.245+6T>C Single submitter mucopolysaccharidosis type 4B
c.457+3A>C Single submitter
c.457+3A>G Single submitter GM1 gangliosidosis
c.553-8A>G Single submitter GM1 gangliosidosis
c.734-10C>G Single submitter GM1 gangliosidosis
c.75+3_75+4del Single submitter GM1 gangliosidosis type 1
c.76-4399_76-4397del Single submitter GM1 gangliosidosis type 1
c.914+15_914+16delinsAGTGTGAACTTGTGAGTGTTT Single submitter GM1 gangliosidosis
c.914+5G>A Single submitter mucopolysaccharidosis type 4B
c.-17C>T Single submitter mucopolysaccharidosis type 4B
c.*194C>A Single submitter GM1 gangliosidosis
c.*224G>T Single submitter mucopolysaccharidosis type 4B
c.*39C>T Single submitter mucopolysaccharidosis type 4B
c.*423A>G Single submitter GM1 gangliosidosis
c.*44C>T Single submitter GM1 gangliosidosis
p.Ala111Thr Single submitter mucopolysaccharidosis type 4B ⚠
p.Ala156Val Single submitter mucopolysaccharidosis type 4B ⚠
p.Ala194Val Single submitter mucopolysaccharidosis type 4B ⚠
p.Ala251Thr Single submitter mucopolysaccharidosis type 4B ⚠
p.Ala301Glu Single submitter ⚠
p.Ala301Gly Single submitter ⚠
p.Ala326Val Single submitter ⚠
p.Ala519Val Single submitter mucopolysaccharidosis type 4B ⚠
p.Ala624Thr Single submitter ⚠
p.Ala635Ser Single submitter GM1 gangliosidosis ⚠
p.Arg109Gln Single submitter GM1 gangliosidosis ⚠
p.Arg121Ser Single submitter ⚠
p.Arg206His Single submitter mucopolysaccharidosis type 4B ⚠
p.Arg208Leu Single submitter GM1 gangliosidosis ⚠
p.Arg457dup Single submitter mucopolysaccharidosis type 4B
p.Arg482Leu Single submitter Inborn genetic diseases ⚠
p.Arg660Lys Single submitter GM1 gangliosidosis ⚠
p.Arg7Pro Single submitter mucopolysaccharidosis type 4B ⚠
p.Asn247Asp Single submitter GM1 gangliosidosis type 1 ⚠
p.Asn304Ser Single submitter GM1 gangliosidosis ⚠
p.Asn428Ser Single submitter ⚠
p.Asn459del Single submitter mucopolysaccharidosis type 4B
p.Asn459Ser Single submitter Inborn genetic diseases ⚠
p.Asn479Lys Single submitter mucopolysaccharidosis type 4B ⚠
p.Asp196His Single submitter mucopolysaccharidosis type 4B ⚠
p.Asp198His Single submitter GM1 gangliosidosis ⚠
p.Asp342Glu Single submitter GM1 gangliosidosis ⚠
p.Asp425His Single submitter GM1 gangliosidosis ⚠
p.Asp441Gly Single submitter GM1 gangliosidosis type 1 ⚠
p.Asp474Gly Single submitter GM1 gangliosidosis type 1 ⚠
p.Asp564Glu Single submitter ⚠
p.Asp640Tyr Single submitter ⚠
p.Asp671fs Single submitter GM1 gangliosidosis type 1
p.Cys258Tyr Single submitter Inborn genetic diseases ⚠
p.Cys521His Single submitter mucopolysaccharidosis type 4B
p.Cys634Tyr Single submitter ⚠
p.Gln175Arg Single submitter mucopolysaccharidosis type 4B ⚠
p.Gln279Arg Single submitter mucopolysaccharidosis type 4B ⚠
p.Gln279His Single submitter GM1 gangliosidosis ⚠
p.Gln29His Single submitter GM1 gangliosidosis ⚠
p.Gln411Pro Single submitter GM1 gangliosidosis ⚠
p.Gln452His Single submitter Inborn genetic diseases ⚠
p.Gln46Pro Single submitter mucopolysaccharidosis type 4B
p.Gln580Glu Single submitter GM1 gangliosidosis ⚠
p.Glu129Lys Single submitter ⚠
p.Glu131Lys Single submitter ⚠
p.Glu287Lys Single submitter mucopolysaccharidosis type 4B ⚠
p.Glu362Lys Single submitter GM1 gangliosidosis ⚠
p.Glu90Gln Single submitter GM1 gangliosidosis ⚠
p.Gly178Trp Single submitter Inborn genetic diseases ⚠
p.Gly235Ser Single submitter mucopolysaccharidosis type 4B ⚠
p.Gly23Ser Single submitter mucopolysaccharidosis type 4B ⚠
p.Gly341Val Single submitter GM1 gangliosidosis type 3 ⚠
p.Gly363Asp Single submitter GM1 gangliosidosis ⚠
p.Gly414Glu Single submitter mucopolysaccharidosis type 4B ⚠
p.Gly494Asp Single submitter ⚠
p.Gly575Val Single submitter GM1 gangliosidosis
p.Gly585Ser Single submitter GM1 gangliosidosis ⚠
p.Gly94Glu Single submitter GM1 gangliosidosis ⚠
p.His209Tyr Single submitter GM1 gangliosidosis ⚠
p.His224Asp Single submitter GM1 gangliosidosis ⚠
p.His529Tyr Single submitter mucopolysaccharidosis type 4B ⚠
p.His535Arg Single submitter Inborn genetic diseases ⚠
p.Ile119Met Single submitter GM1 gangliosidosis ⚠
p.Ile126Leu Single submitter ⚠
p.Ile126Thr Single submitter ⚠
p.Ile145Thr Single submitter GM1 gangliosidosis ⚠
p.Ile284Val Single submitter GM1 gangliosidosis ⚠
p.Ile296Thr Single submitter
p.Ile34Thr Single submitter ⚠
p.Ile365Met Single submitter GM1 gangliosidosis ⚠
p.Ile450Met Single submitter ⚠
p.Ile465Val Single submitter Inborn genetic diseases ⚠
p.Ile511Met Single submitter ⚠
p.Ile571Phe Single submitter ⚠
p.Ile583Ser Single submitter mucopolysaccharidosis type 4B ⚠
p.Ile644Thr Single submitter Inborn genetic diseases ⚠
p.Leu139Met Single submitter ⚠
p.Leu233Met Single submitter GM1 gangliosidosis ⚠
p.Leu297Arg Single submitter Inborn genetic diseases ⚠
p.Leu305Phe Single submitter mucopolysaccharidosis type 4B ⚠
p.Leu337Gln Single submitter ⚠
p.Leu343Phe Single submitter GM1 gangliosidosis type 1 ⚠
p.Leu379Val Single submitter ⚠
p.Leu392Arg Single submitter ⚠
p.Leu401Arg Single submitter mucopolysaccharidosis type 4B ⚠
p.Leu401Ile Single submitter GM1 gangliosidosis ⚠
p.Leu401Pro Single submitter GM1 gangliosidosis ⚠
p.Leu417Pro Single submitter ⚠
p.Leu422Phe Single submitter ⚠
p.Leu436Val Single submitter GM1 gangliosidosis ⚠
p.Leu475Phe Single submitter GM1 gangliosidosis ⚠
p.Leu476Val Single submitter mucopolysaccharidosis type 4B ⚠
p.Leu506Ile Single submitter GM1 gangliosidosis ⚠
p.Leu506Phe Single submitter ⚠
p.Leu548His Single submitter GM1 gangliosidosis ⚠
p.Leu619Met Single submitter GM1 gangliosidosis ⚠
p.Leu633Val Single submitter GM1 gangliosidosis ⚠
p.Leu661Phe Single submitter GM1 gangliosidosis ⚠
p.Leu70Pro Single submitter mucopolysaccharidosis type 4B ⚠
p.Lys356= Single submitter
p.Lys43Arg Single submitter GM1 gangliosidosis ⚠
p.Lys578Gln Single submitter ⚠
p.Lys670Arg Single submitter mucopolysaccharidosis type 4B ⚠
p.Lys670Glu Single submitter mucopolysaccharidosis type 4B ⚠
p.Met553Thr Single submitter mucopolysaccharidosis type 4B ⚠
p.Phe269Ser Single submitter GM1 gangliosidosis ⚠
p.Phe48Leu Single submitter GLB1-related disorder ⚠
p.Phe63Leu Single submitter GM1 gangliosidosis ⚠
p.Phe63Tyr Single submitter GM1 gangliosidosis type 1 ⚠
p.Phe88Leu Single submitter mucopolysaccharidosis type 4B ⚠
p.Pro152Thr Single submitter GM1 gangliosidosis ⚠
p.Pro260His Single submitter mucopolysaccharidosis type 4B ⚠
p.Pro280Ala Single submitter mucopolysaccharidosis type 4B ⚠
p.Pro280Ser Single submitter mucopolysaccharidosis type 4B ⚠
p.Pro2Ala Single submitter GM1 gangliosidosis ⚠
p.Pro2Leu Single submitter mucopolysaccharidosis type 4B ⚠
p.Pro323Ala Single submitter GM1 gangliosidosis ⚠
p.Pro367Leu Single submitter ⚠
p.Pro367Ser Single submitter GM1 gangliosidosis type 1 ⚠
p.Pro403Leu Single submitter Inborn genetic diseases ⚠
p.Pro451Ser Single submitter GM1 gangliosidosis ⚠
p.Pro513Ser Single submitter mucopolysaccharidosis type 4B ⚠
p.Pro574Leu Single submitter Inborn genetic diseases ⚠
p.Pro604Ala Single submitter mucopolysaccharidosis type 4B ⚠
p.Pro625Ser Single submitter mucopolysaccharidosis type 4B ⚠
p.Pro664Ser Single submitter GM1 gangliosidosis ⚠
p.Pro85Thr Single submitter GM1 gangliosidosis type 2 ⚠
p.Pro91Thr Single submitter ⚠
p.Pro93Gln Single submitter mucopolysaccharidosis type 4B ⚠
p.Ser282Phe Single submitter mucopolysaccharidosis type 4B ⚠
p.Ser302Ile Single submitter GM1 gangliosidosis ⚠
p.Ser302Thr Single submitter GM1 gangliosidosis ⚠
p.Ser395Cys Single submitter Inborn genetic diseases ⚠
p.Ser395Phe Single submitter GM1 gangliosidosis ⚠
p.Ser400Arg Single submitter GM1 gangliosidosis ⚠
p.Ser40Phe Single submitter GM1 gangliosidosis ⚠
p.Ser427Gly Single submitter mucopolysaccharidosis type 4B ⚠
p.Ser434Thr Single submitter Inborn genetic diseases ⚠
p.Ser502Asn Single submitter mucopolysaccharidosis type 4B ⚠
p.Ser503Tyr Single submitter GM1 gangliosidosis ⚠
p.Ser58Phe Single submitter GM1 gangliosidosis ⚠
p.Ser611Ala Single submitter Inborn genetic diseases ⚠
p.Ser611Thr Single submitter Inborn genetic diseases ⚠
p.Ser627Arg Single submitter Inborn genetic diseases ⚠
p.Ser628Asn Single submitter Inborn genetic diseases ⚠
p.Ser654Ala Single submitter Inborn genetic diseases ⚠
p.Ser99Thr Single submitter mucopolysaccharidosis type 4B ⚠
p.Thr182Arg Single submitter GM1 gangliosidosis type 1 ⚠
p.Thr238Ala Single submitter GM1 gangliosidosis ⚠
p.Thr238Ile Single submitter GM1 gangliosidosis type 2 ⚠
p.Thr344Ala Single submitter GM1 gangliosidosis ⚠
p.Thr405Ile Single submitter GLB1-related disorder ⚠
p.Thr421Ala Single submitter GM1 gangliosidosis ⚠
p.Thr462Ala Single submitter mucopolysaccharidosis type 4B ⚠
p.Thr507Pro Single submitter ⚠
p.Thr547Pro Single submitter Inborn genetic diseases ⚠
p.Thr569Ile Single submitter ⚠
p.Trp161Cys Single submitter GLB1-related disorder ⚠
p.Trp161Leu Single submitter ⚠
p.Trp273Cys Single submitter ⚠
p.Trp277Arg Single submitter ⚠
p.Trp317Cys Single submitter GLB1-related disorder ⚠
p.Trp539Ser Single submitter mucopolysaccharidosis type 4B ⚠
p.Tyr125Cys Single submitter GM1 gangliosidosis ⚠
p.Tyr192His Single submitter GM1 gangliosidosis ⚠
p.Tyr270Ser Single submitter ⚠
p.Tyr324Phe Single submitter ⚠
p.Tyr333Phe Single submitter ⚠
p.Tyr374His Single submitter GM1 gangliosidosis ⚠
p.Tyr374Phe Single submitter mucopolysaccharidosis type 4B ⚠
p.Tyr413Cys Single submitter Inborn genetic diseases ⚠
p.Tyr488Cys Single submitter ⚠
p.Val216Ala Single submitter ⚠
p.Val360Ala Single submitter mucopolysaccharidosis type 4B ⚠
p.Val377Ile Single submitter ⚠
p.Val445Ile Single submitter mucopolysaccharidosis type 4B ⚠
p.Val454Ile Single submitter mucopolysaccharidosis type 4B ⚠
p.Val618Met Single submitter mucopolysaccharidosis type 4B ⚠
p.Val657Ile Single submitter mucopolysaccharidosis type 4B ⚠
p.Val677Gly Single submitter mucopolysaccharidosis type 4B ⚠
c.1068+2341_1068+2342insGCTTGGTATTTTTTCTGAGGGTATCTTTGCTTGGTATTTTTCTGAGTTAGCTTTTGCTTGTATTTTTTTTTCTGATGTACTTT No assertion criteria schizophrenia
p.Ala635Pro No assertion criteria ependymoma ⚠
p.Arg530His No assertion criteria ⚠
p.Arg660Ter No assertion criteria GM1 gangliosidosis type 3
p.Asn266Ser No assertion criteria GM1 gangliosidosis type 3 ⚠
p.Glu620Asp No assertion criteria GLB1-related neurodegeneration ⚠
p.Met31Ile No assertion criteria GM1 gangliosidosis type 3 ⚠
p.Pro167= No assertion criteria GM1 gangliosidosis type 3
p.Ter678Arg No assertion criteria GM1 gangliosidosis type 3
p.Ter678Cys No assertion criteria GM1 gangliosidosis type 3