GALNS — 1346 ClinVar variants

All ClinVar germline GALNS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 435 flagged for review →

106 Pathogenic · 70 Pathogenic/Likely pathogenic · 125 Likely pathogenic · 147 Conflicting · 90 Benign · 10 Benign/Likely benign · 447 Likely benign · 351 Uncertain significance

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

⚑ Evidence disagreements 435

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 25

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

GALNS p.Ala107Thr Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4
GALNS p.Ala492Thr Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Arg251Gln Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Arg259Gln Pathogenic/Likely pathogenic Multiple submitters
GALNS-related disorders
GALNS p.Arg61Gly Likely pathogenic Multiple submitters
GALNS-related disorders
GALNS p.Arg61Trp Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4
GALNS p.Asn204Ser Pathogenic/Likely pathogenic Multiple submitters
skeletal dysplasia
GALNS p.Asn204Thr Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Asp388Asn Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Gly201Glu Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4
GALNS p.Met41Leu Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Val48Gly Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4
GALNS p.Ala234Ser Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala482Val Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala63Gly Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala84Gly Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gln422Arg Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly333Asp Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly340Ser Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ile113Val Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu214Arg Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Met318Val Pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Met62Leu Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro125Ser Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro420Leu Likely pathogenic Single submitter
mucopolysaccharidosis type 4A

Predictors agree, ClinVar conflicts 64

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

GALNS p.Ala296Val Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala351Ser Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala459Thr Conflicting Single submitter
Inborn genetic diseases
GALNS p.Ala84Glu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg222Gln Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg376Gln Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg380Gly Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg380Ser Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg380Thr Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn289Ser Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn32Asp Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Asn32Thr Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn487Ser Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Asn487Tyr Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn95Asp Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asp183Tyr Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asp388Glu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asp39Tyr Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asp40Asn Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Cys308Arg Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Cys501Ser Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Cys507Phe Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Gln334Arg Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu298Lys Conflicting Single submitter
Inborn genetic diseases
GALNS p.Gly139Asp Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly155Glu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly304Val Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly316Glu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly317Arg Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly317Glu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly500Cys Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Gly50Arg Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly66Arg Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly96Cys Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.His142Arg Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.His142Gln Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.His166Gln Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.His401Tyr Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu214Pro Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu275Pro Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu307Pro Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu36Pro Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu390Pro Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Lys399Arg Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Met41Lys Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Phe156Cys Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Phe167Val Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Phe306Cys Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro125Gln Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro179Ser Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Pro484Leu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro77Leu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ser242Cys Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ser470Leu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ser82Leu Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Trp141Arg Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Trp141Cys Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Tyr191Asp Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Tyr229His Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Tyr254Cys Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Tyr73Cys Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Val138Ile Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Val258Ile Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Val48Ala Conflicting Single submitter
mucopolysaccharidosis type 4A

Predictors lean, ClinVar uncertain 186

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 186

GALNS p.Ala102Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Ala231Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Ala322Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Arg222Trp Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Arg376Trp Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Arg380Lys Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Arg413Lys Uncertain significance Multiple submitters
Inborn genetic diseases
GALNS p.Asn289Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Asn303Lys Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Asn71Asp Uncertain significance Multiple submitters
Inborn genetic diseases
GALNS p.Asp360Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Asp45Gly Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Glu260Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Gly365Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Gly505Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GALNS p.His475Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Ile363Val Uncertain significance Multiple submitters
Inborn genetic diseases
GALNS p.Ile514Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Ile93Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Ile93Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Leu352Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Leu366Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Leu395Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Lys199Asn Uncertain significance Multiple submitters
Inborn genetic diseases
GALNS p.Lys310Asn Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Met22Ile Uncertain significance Multiple submitters
Inborn genetic diseases
GALNS p.Met318Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Phe226Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Pro30Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Trp491Arg Uncertain significance Multiple submitters
Inborn genetic diseases
GALNS p.Tyr133Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Tyr170Cys Uncertain significance Multiple submitters
GALNS p.Val239Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Val424Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Ala221Gly Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Ala237Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala241Asp Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala278Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala291Asp Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala296Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala324Glu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala332Pro Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Ala353Glu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala3Val Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Ala464Asp Uncertain significance Single submitter
GALNS p.Ala464Val Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Ala6Ser Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Arg219Lys Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Arg319Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg361Met Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg413Gly Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Arg90Gly Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn101Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn106Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn289His Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn367Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn423Lys Uncertain significance Single submitter
GALNS p.Asn487Ile Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn95Lys Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asp183His Uncertain significance Single submitter
GALNS p.Asp262Val Uncertain significance Single submitter
GALNS p.Asp288Gly Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asp344Asn Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asp344Glu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asp40Glu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asp40Gly Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asp40Tyr Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Cys308Trp Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gln299Glu Uncertain significance Single submitter
GALNS p.Gln473Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu121Asp Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu126Gln Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu260Lys Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu260Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu315Lys Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu320Asp Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu450Gly Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu450Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu512Lys Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Gly116Asp Uncertain significance Single submitter
GALNS p.Gly139Ala Uncertain significance Single submitter
GALNS p.Gly161Glu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly168Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly188Asp Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly255Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly255Glu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly26Asp Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly290Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly290Asp Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly309Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly316Arg Uncertain significance Single submitter
GALNS p.Gly316Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly387Asp Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly387Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly415Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly421Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly42Glu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly44Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly47Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly89Val Uncertain significance Single submitter
GALNS p.Gly96Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.His142Asn Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.His142Tyr Uncertain significance Single submitter
GALNS p.His166Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.His236Asp Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.His276Gln Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.His329Asn Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ile294Val Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Ile33Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ile342Phe Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ile93Leu Uncertain significance Single submitter
GALNS p.Leu15Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu214Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu269Pro Uncertain significance Single submitter
GALNS p.Leu271Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu323Phe Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Leu339Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu345Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu34Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu366Phe Uncertain significance Single submitter
GALNS p.Leu369Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu395Arg Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Leu395Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu454Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu519Phe Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu67Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu86Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu87Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu91Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Lys136Gln Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Met38Arg Uncertain significance Single submitter
GALNS p.Phe149Cys Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Phe156Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Phe227Ser Uncertain significance Single submitter
GALNS p.Phe245Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Phe285Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Phe314Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Phe346Leu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro151Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro151Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro163His Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro179His Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro179Leu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro195Ser Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Pro244His Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Pro439Ser Uncertain significance Single submitter
GALNS p.Pro484His Uncertain significance Single submitter
GALNS-related disorder
GALNS p.Pro511Ala Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro511Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro81Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A

Predictors split 160

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 160

GALNS p.Ala203Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Ala257Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Ala351Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Ala492Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Ala84Val Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Arg253Gln Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Arg386Cys Pathogenic/Likely pathogenic Multiple submitters
GALNS-related disorders
GALNS p.Arg94His Pathogenic/Likely pathogenic Multiple submitters
GALNS-related disorders
GALNS p.Asn164Thr Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Asp233Asn Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Asp60Asn Pathogenic/Likely pathogenic Multiple submitters
GALNS-related disorders
GALNS p.Gly132Ser Uncertain significance Multiple submitters
Inborn genetic diseases
GALNS p.Gly304Asp Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.His145Tyr Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.His150Tyr Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Leu369Phe Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Met391Val Pathogenic Multiple submitters
GALNS-related disorders
GALNS p.Met494Thr Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Phe306Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Pro357Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Pro57Leu Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Pro57Ser Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Ser295Phe Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Thr109Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Thr200Met Benign Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Thr313Met Pathogenic/Likely pathogenic Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Thr429Ile Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Thr99Pro Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Trp496Cys Uncertain significance Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Val480Phe Benign/Likely benign Multiple submitters
mucopolysaccharidosis type 4A
GALNS p.Met38Leu Uncertain significance Single submitter
GALNS p.Ala107Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala107Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala213Val Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala234Thr Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala278Val Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala291Ser Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Ala324Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala324Thr Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Ala324Val Uncertain significance Single submitter
GALNS p.Ala353Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala400Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala75Gly Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ala84Thr Uncertain significance Single submitter
GALNS p.Ala85Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg105Gly Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg253Trp Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Arg259Gly Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg259Trp Conflicting Single submitter
GALNS-related disorders
GALNS p.Arg386Gly Uncertain significance Single submitter
GALNS p.Arg386His Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Arg386Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg446Trp Likely benign Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg54Gly Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Arg90Gln Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn101Asp Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn164Ser Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn177His Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn177Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn32Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn407His Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn407Lys Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn487Lys Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn495Lys Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn495Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn495Tyr Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn58Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asn76Lys Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Asp171Ala Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Cys507Arg Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Cys79Ser Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gln111Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gln422Lys Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gln474Pro Uncertain significance Single submitter
GALNS p.Glu185Gly Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu192Gly Uncertain significance Single submitter
GALNS p.Glu193Gly Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu315Gln Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu320Lys Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Glu51Lys Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly188Ser Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly201Arg Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly23Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly247Asp Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Gly252Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly255Ala Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly304Ser Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly340Cys Uncertain significance Single submitter
GALNS p.Gly396Arg Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly421Glu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly445Glu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly449Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly500Asp Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Gly500Ser Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.His154Asn Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.His166Tyr Uncertain significance Single submitter
GALNS p.His329Pro Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.His435Tyr Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Ile196Asn Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ile363Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ile416Thr Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu15Met Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu307Met Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu339Arg Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Leu504Ser Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Leu508Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Met343Leu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Met38Leu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Met391Thr Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Met494Val Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Phe284Val Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Phe306Val Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Phe452Ile Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Phe452Leu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Phe69Val Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Phe97Val Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro125Ala Uncertain significance Single submitter
GALNS p.Pro163Leu Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro305Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro370Ser Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro381Arg Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro420Arg Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Pro420Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro481Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro484Ser Conflicting Single submitter
mucopolysaccharidosis type 4
GALNS p.Pro498Leu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro498Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro499Leu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro52Leu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro77Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Pro77Thr Uncertain significance Single submitter
GALNS p.Pro92Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ser120Leu Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ser120Trp Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Ser264Thr Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ser470Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Ser53Phe Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Thr100Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Thr206Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Thr235Met Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Thr286Met Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Thr312Ala Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Thr312Ser Conflicting Single submitter
mucopolysaccharidosis type 4A
GALNS p.Thr313Ala Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Thr394Pro Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Thr428Lys Likely pathogenic Single submitter
mucopolysaccharidosis type 4A
GALNS p.Trp230Cys Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Trp409Ser Uncertain significance Single submitter
mucopolysaccharidosis type 4A
GALNS p.Trp43Leu Uncertain significance Single submitter
Inborn genetic diseases
GALNS p.Trp496Ser Likely pathogenic Single submitter
mucopolysaccharidosis type 4A

All GALNS variants

Pathogenic 106

c.1139+1G>A Multiple submitters mucopolysaccharidosis type 4A
c.120+1G>A Multiple submitters mucopolysaccharidosis type 4A
c.120+1G>C Multiple submitters mucopolysaccharidosis type 4A
c.121-1G>A Multiple submitters mucopolysaccharidosis type 4A
c.1364+1G>A Multiple submitters mucopolysaccharidosis type 4A
c.1365-1G>C Multiple submitters mucopolysaccharidosis type 4A
c.320-1G>T Multiple submitters mucopolysaccharidosis type 4A
c.405_422+1del Multiple submitters mucopolysaccharidosis type 4A
c.423-11_425del Multiple submitters mucopolysaccharidosis type 4A
c.758+1G>A Multiple submitters mucopolysaccharidosis type 4A
c.898+1G>A Multiple submitters mucopolysaccharidosis type 4A
c.899-1G>C Multiple submitters mucopolysaccharidosis type 4A
p.Ala392Val Multiple submitters mucopolysaccharidosis type 4A
p.Arg90Trp Multiple submitters Inborn genetic diseases
p.Gln211Ter Multiple submitters mucopolysaccharidosis type 4A
p.Gln334Ter Multiple submitters mucopolysaccharidosis type 4A
p.Gln338Ter Multiple submitters mucopolysaccharidosis type 4A
p.Gln374Ter Multiple submitters mucopolysaccharidosis type 4A
p.Gln414Ter Multiple submitters mucopolysaccharidosis type 4A
p.Gln422Ter Multiple submitters mucopolysaccharidosis type 4A
p.Gln473Ter Multiple submitters mucopolysaccharidosis type 4A
p.Glu202fs Multiple submitters mucopolysaccharidosis type 4A
p.Gly116Ser Multiple submitters mucopolysaccharidosis type 4A
p.Gly139Ser Multiple submitters mucopolysaccharidosis type 4
p.Gly301Cys Multiple submitters GALNS-related disorders
p.His398fs Multiple submitters mucopolysaccharidosis type 4A
p.Met318Arg Multiple submitters Inborn genetic diseases
p.Met391Val Multiple submitters GALNS-related disorders ⚠
p.Phe167fs Multiple submitters mucopolysaccharidosis type 4
p.Pro381fs Multiple submitters mucopolysaccharidosis type 4
p.Ser162Phe Multiple submitters mucopolysaccharidosis type 4A
p.Thr281_Asn289del Multiple submitters mucopolysaccharidosis type 4
p.Trp10Ter Multiple submitters mucopolysaccharidosis type 4A
p.Trp159Ter Multiple submitters mucopolysaccharidosis type 4A
p.Trp230Ter Multiple submitters GALNS-related disorders
p.Val239fs Multiple submitters mucopolysaccharidosis type 4A
c.1139+2T>C Single submitter mucopolysaccharidosis type 4A
c.(120+1_121-1 Single submitter mucopolysaccharidosis type 4A
c.120+1G>T Single submitter mucopolysaccharidosis type 4A
c.121-1G>T Single submitter mucopolysaccharidosis type 4A
c.121-2_121-1insTGCATTTGCTGGCATA Single submitter mucopolysaccharidosis type 4A
c.121-2A>T Single submitter mucopolysaccharidosis type 4A
c.121-338_244+1del Single submitter mucopolysaccharidosis type 4A
c.1242+1G>A Single submitter mucopolysaccharidosis type 4A
c.(1364+1_1365-1 Single submitter mucopolysaccharidosis type 4A
c.1365-2A>G Single submitter mucopolysaccharidosis type 4A
c.1475_1482+1del Single submitter mucopolysaccharidosis type 4A
c.1482+2T>C Single submitter mucopolysaccharidosis type 4A
c.244+1G>T Single submitter mucopolysaccharidosis type 4A
c.422+2_422+8del Single submitter mucopolysaccharidosis type 4A
c.567-1G>T Single submitter mucopolysaccharidosis type 4A
c.567-2A>T Single submitter mucopolysaccharidosis type 4A
c.634-2A>C Single submitter
c.758+1G>C Single submitter mucopolysaccharidosis type 4A
c.(898+1_899-1 Single submitter mucopolysaccharidosis type 4A
c.898+2T>A Single submitter mucopolysaccharidosis type 4A
c.899-1G>T Single submitter mucopolysaccharidosis type 4A
c.899-397_1003-1862del Single submitter mucopolysaccharidosis type 4A
c.899-66_907delinsACTCAGTG Single submitter
p.Ala292fs Single submitter mucopolysaccharidosis type 4A
p.Ala393fs Single submitter mucopolysaccharidosis type 4A
p.Ala63Pro Single submitter mucopolysaccharidosis type 4A
p.Arg61= Single submitter mucopolysaccharidosis type 4A
p.Asn32fs Single submitter mucopolysaccharidosis type 4A
p.Asp274fs Single submitter mucopolysaccharidosis type 4A
p.Asp288fs Single submitter mucopolysaccharidosis type 4A
p.Asp39fs Single submitter mucopolysaccharidosis type 4A
p.Asp40His Single submitter mucopolysaccharidosis type 4A
p.Cys165_Asn177del Single submitter mucopolysaccharidosis type 4A
p.Gln122Ter Single submitter mucopolysaccharidosis type 4A
p.Gln148Ter Single submitter mucopolysaccharidosis type 4A
p.Gln250Ter Single submitter mucopolysaccharidosis type 4A
p.Gln29Ter Single submitter mucopolysaccharidosis type 4A
p.Gln474Ter Single submitter mucopolysaccharidosis type 4A
p.Glu112fs Single submitter mucopolysaccharidosis type 4A
p.Glu126Ter Single submitter mucopolysaccharidosis type 4A
p.Glu158Ter Single submitter mucopolysaccharidosis type 4A
p.Glu298Ter Single submitter mucopolysaccharidosis type 4A
p.Glu410Ter Single submitter
p.Glu450Ter Single submitter mucopolysaccharidosis type 4A
p.Gly445Ter Single submitter mucopolysaccharidosis type 4A
p.His236fs Single submitter mucopolysaccharidosis type 4A
p.His475fs Single submitter mucopolysaccharidosis type 4A
p.Ile416fs Single submitter mucopolysaccharidosis type 4A
p.Leu372fs Single submitter mucopolysaccharidosis type 4A
p.Lys506fs Single submitter mucopolysaccharidosis type 4A
p.Met1Leu Single submitter mucopolysaccharidosis type 4A
p.Met1Thr Single submitter mucopolysaccharidosis type 4A
p.Met318Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Met494fs Single submitter mucopolysaccharidosis type 4A
p.Phe452fs Single submitter mucopolysaccharidosis type 4
p.Pro125fs Single submitter mucopolysaccharidosis type 4A
p.Pro420fs Single submitter mucopolysaccharidosis type 4A
p.Ser162Tyr Single submitter mucopolysaccharidosis type 4A
p.Thr389_Leu390insTer Single submitter mucopolysaccharidosis type 4A
p.Trp141Ter Single submitter mucopolysaccharidosis type 4A
p.Trp184Ter Single submitter mucopolysaccharidosis type 4A
p.Trp325Ter Single submitter mucopolysaccharidosis type 4A
p.Trp403Ter Single submitter mucopolysaccharidosis type 4A
p.Trp491Ter Single submitter mucopolysaccharidosis type 4A
p.Trp496Ter Single submitter mucopolysaccharidosis type 4A
p.Tyr170Ter Single submitter mucopolysaccharidosis type 4A
p.Tyr190Ter Single submitter mucopolysaccharidosis type 4A
p.Tyr209Ter Single submitter mucopolysaccharidosis type 4A
p.Tyr461Ter Single submitter mucopolysaccharidosis type 4A
p.Tyr98Ter Single submitter mucopolysaccharidosis type 4A

Pathogenic/Likely pathogenic 70

c.121-2A>G Multiple submitters mucopolysaccharidosis type 4A
c.1242+1G>C Multiple submitters mucopolysaccharidosis type 4A
c.319+2T>C Multiple submitters mucopolysaccharidosis type 4A
c.320-1G>C Multiple submitters mucopolysaccharidosis type 4A
c.423-1G>A Multiple submitters mucopolysaccharidosis type 4A
c.423-862C>T Multiple submitters mucopolysaccharidosis type 4A
c.898+1G>C Multiple submitters mucopolysaccharidosis type 4A
c.899-2A>C Multiple submitters mucopolysaccharidosis type 4A
c.899-2A>G Multiple submitters mucopolysaccharidosis type 4
p.Ala107Thr Multiple submitters mucopolysaccharidosis type 4 ⚠
p.Ala27fs Multiple submitters mucopolysaccharidosis type 4A
p.Ala291Thr Multiple submitters mucopolysaccharidosis type 4
p.Ala492Thr Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Arg251Gln Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Arg251Ter Multiple submitters mucopolysaccharidosis type 4A
p.Arg259Gln Multiple submitters GALNS-related disorders ⚠
p.Arg386Cys Multiple submitters GALNS-related disorders ⚠
p.Arg61Trp Multiple submitters mucopolysaccharidosis type 4 ⚠
p.Arg94Cys Multiple submitters mucopolysaccharidosis type 4A
p.Arg94Gly Multiple submitters mucopolysaccharidosis type 4
p.Arg94His Multiple submitters GALNS-related disorders ⚠
p.Arg94Leu Multiple submitters mucopolysaccharidosis type 4
p.Asn164fs Multiple submitters mucopolysaccharidosis type 4
p.Asn164Thr Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Asn204Ser Multiple submitters skeletal dysplasia ⚠
p.Asn204Thr Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Asp233Asn Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Asp388Asn Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Asp39Gly Multiple submitters mucopolysaccharidosis type 4A
p.Asp447Asn Multiple submitters mucopolysaccharidosis type 4
p.Asp60Asn Multiple submitters GALNS-related disorders ⚠
p.Cys79Arg Multiple submitters mucopolysaccharidosis type 4A
p.Cys79fs Multiple submitters mucopolysaccharidosis type 4A
p.Gln111Ter Multiple submitters mucopolysaccharidosis type 4
p.Gln273Ter Multiple submitters GALNS-related disorder
p.Glu433fs Multiple submitters mucopolysaccharidosis type 4A
p.Gly116Val Multiple submitters mucopolysaccharidosis type 4A
p.Gly155Arg Multiple submitters GALNS-related disorders
p.Gly168Arg Multiple submitters mucopolysaccharidosis type 4
p.Gly201Glu Multiple submitters mucopolysaccharidosis type 4 ⚠
p.Gly290Ser Multiple submitters mucopolysaccharidosis type 4A
p.Gly340Asp Multiple submitters mucopolysaccharidosis type 4
p.His145Tyr Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ile113Phe Multiple submitters mucopolysaccharidosis type 4
p.Leu350Pro Multiple submitters mucopolysaccharidosis type 4A
p.Leu36Arg Multiple submitters mucopolysaccharidosis type 4A
p.Leu440fs Multiple submitters mucopolysaccharidosis type 4A
p.Lys218fs Multiple submitters mucopolysaccharidosis type 4A
p.Lys399fs Multiple submitters mucopolysaccharidosis type 4A
p.Met1_Val5del Multiple submitters mucopolysaccharidosis type 4A
p.Met41Leu Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Phe156Leu Multiple submitters mucopolysaccharidosis type 4
p.Phe216Ser Multiple submitters mucopolysaccharidosis type 4A
p.Phe226fs Multiple submitters mucopolysaccharidosis type 4A
p.Phe285del Multiple submitters mucopolysaccharidosis type 4
p.Pro125Leu Multiple submitters GALNS-related disorders
p.Pro151_Leu152insTer Multiple submitters mucopolysaccharidosis type 4A
p.Pro151Leu Multiple submitters mucopolysaccharidosis type 4A
p.Pro151Thr Multiple submitters mucopolysaccharidosis type 4
p.Pro357fs Multiple submitters mucopolysaccharidosis type 4A
p.Pro77Arg Multiple submitters mucopolysaccharidosis type 4A
p.Ser287Leu Multiple submitters GALNS-related disorders
p.Ser295Phe Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ser80Leu Multiple submitters GALNS-related disorder
p.Ter523Glu Multiple submitters mucopolysaccharidosis type 4A
p.Thr235Lys Multiple submitters mucopolysaccharidosis type 4A
p.Thr313Met Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Tyr240Cys Multiple submitters mucopolysaccharidosis type 4A
p.Tyr385Ter Multiple submitters mucopolysaccharidosis type 4A
p.Val48Gly Multiple submitters mucopolysaccharidosis type 4 ⚠

Likely pathogenic 125

c.1243-2A>C Multiple submitters mucopolysaccharidosis type 4A
c.244+1G>A Multiple submitters GALNS-related disorders
c.245-2A>G Multiple submitters mucopolysaccharidosis type 4A
p.Arg61Gly Multiple submitters GALNS-related disorders ⚠
p.Glu463Ter Multiple submitters mucopolysaccharidosis type 4A
p.Gly301Asp Multiple submitters mucopolysaccharidosis type 4A
p.His142Leu Multiple submitters mucopolysaccharidosis type 4A
p.His142Pro Multiple submitters mucopolysaccharidosis type 4A
c.1003-1397A>G Single submitter mucopolysaccharidosis type 4A
c.1003-1570G>T Single submitter mucopolysaccharidosis type 4A
c.1003-2A>C Single submitter mucopolysaccharidosis type 4A
c.1140-1G>A Single submitter mucopolysaccharidosis type 4A
c.120+1336A>G Single submitter mucopolysaccharidosis type 4A
c.121-149G>A Single submitter mucopolysaccharidosis type 4A
c.121-1G>C Single submitter mucopolysaccharidosis type 4A
c.(1242+1_1243-1 Single submitter mucopolysaccharidosis type 4A
c.1242+1G>T Single submitter mucopolysaccharidosis type 4A
c.1243-1G>A Single submitter mucopolysaccharidosis type 4A
c.1243-1G>C Single submitter mucopolysaccharidosis type 4A
c.1364+2_1364+15del Single submitter mucopolysaccharidosis type 4A
c.1365-1G>A Single submitter mucopolysaccharidosis type 4A
c.1483-1G>A Single submitter mucopolysaccharidosis type 4A
c.1483-1G>C Single submitter mucopolysaccharidosis type 4A
c.1483-1G>T Single submitter mucopolysaccharidosis type 4A
c.1483-2A>C Single submitter mucopolysaccharidosis type 4A
c.1483-2A>G Single submitter mucopolysaccharidosis type 4A
c.244+5G>T Single submitter mucopolysaccharidosis type 4A
c.245_248del Single submitter mucopolysaccharidosis type 4A
c.409_422+5del Single submitter mucopolysaccharidosis type 4A
c.422+1G>A Single submitter mucopolysaccharidosis type 4A
c.422+1G>T Single submitter mucopolysaccharidosis type 4A
c.422+2T>G Single submitter mucopolysaccharidosis type 4A
c.422+933G>T Single submitter mucopolysaccharidosis type 4A
c.424_566+1del Single submitter mucopolysaccharidosis type 4A
c.566+1G>A Single submitter mucopolysaccharidosis type 4A
c.567_1002dup Single submitter mucopolysaccharidosis type 4A
c.634-1G>A Single submitter mucopolysaccharidosis type 4A
c.634-1G>T Single submitter mucopolysaccharidosis type 4A
c.755_758+5del Single submitter GALNS-related disorders
c.759-2A>G Single submitter mucopolysaccharidosis type 4A
p.Ala234Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala459fs Single submitter mucopolysaccharidosis type 4A
p.Ala482Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala63Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala84Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg222_His223insCysGlySerLeuHisArgLysProTrpThrPro Single submitter mucopolysaccharidosis type 4A
p.Asn101Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn164Lys Single submitter mucopolysaccharidosis type 4A
p.Asn204Lys Single submitter mucopolysaccharidosis type 4A
p.Asn289Tyr Single submitter
p.Asp279fs Single submitter mucopolysaccharidosis type 4A
p.Cys165Tyr Single submitter mucopolysaccharidosis type 4A
p.Cys501Tyr Single submitter mucopolysaccharidosis type 4A
p.Cys507Tyr Single submitter mucopolysaccharidosis type 4A
p.Cys79Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Cys79Tyr Single submitter mucopolysaccharidosis type 4A
p.Gln12Ter Single submitter mucopolysaccharidosis type 4A
p.Gln148_Phe149del Single submitter mucopolysaccharidosis type 4A
p.Gln220Ter Single submitter mucopolysaccharidosis type 4A
p.Gln299Ter Single submitter mucopolysaccharidosis type 4A
p.Gln397fs Single submitter mucopolysaccharidosis type 4A
p.Gln422Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gln483Ter Single submitter mucopolysaccharidosis type 4A
p.Glu158fs Single submitter mucopolysaccharidosis type 4A
p.Glu185fs Single submitter mucopolysaccharidosis type 4A
p.Glu298fs Single submitter mucopolysaccharidosis type 4A
p.Glu51Lys Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly168fs Single submitter mucopolysaccharidosis type 4A
p.Gly168Ter Single submitter mucopolysaccharidosis type 4A
p.Gly188Cys Single submitter mucopolysaccharidosis type 4A
p.Gly247Val Single submitter mucopolysaccharidosis type 4A
p.Gly255Ala Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly304fs Single submitter mucopolysaccharidosis type 4A
p.Gly333Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly340Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly47Trp Single submitter GALNS-related disorders
p.Gly500Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly89Ter Single submitter mucopolysaccharidosis type 4A
p.His236Pro Single submitter mucopolysaccharidosis type 4A
p.His236Tyr Single submitter mucopolysaccharidosis type 4A
p.His337fs Single submitter mucopolysaccharidosis type 4A
p.His401Arg Single submitter mucopolysaccharidosis type 4A
p.His430fs Single submitter mucopolysaccharidosis type 4A
p.Ile113Thr Single submitter mucopolysaccharidosis type 4A
p.Ile113Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Ile137_Lys140del Single submitter mucopolysaccharidosis type 4A
p.Ile137Ser Single submitter mucopolysaccharidosis type 4A
p.Ile178fs Single submitter mucopolysaccharidosis type 4A
p.Leu214Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu454fs Single submitter mucopolysaccharidosis type 4A
p.Lys129Ter Single submitter mucopolysaccharidosis type 4A
p.Lys310Arg Single submitter mucopolysaccharidosis type 4A
p.Lys399Thr Single submitter mucopolysaccharidosis type 4A
p.Lys503fs Single submitter mucopolysaccharidosis type 4A
p.Met1Val Single submitter mucopolysaccharidosis type 4A
p.Met318fs Single submitter mucopolysaccharidosis type 4A
p.Met391Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Met62Arg Single submitter mucopolysaccharidosis type 4A
p.Met62Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe216_Ile217insCysGlySerLeuHisArgLysProTrpThrPro Single submitter mucopolysaccharidosis type 4A
p.Phe216Leu Single submitter mucopolysaccharidosis type 4A
p.Phe227fs Single submitter mucopolysaccharidosis type 4A
p.Phe227Tyr Single submitter mucopolysaccharidosis type 4A
p.Phe227Val Single submitter mucopolysaccharidosis type 4A
p.Phe284Cys Single submitter mucopolysaccharidosis type 4A
p.Phe97_Tyr98insPhe Single submitter mucopolysaccharidosis type 4A
p.Phe97Ser Single submitter mucopolysaccharidosis type 4A
p.Pro125Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro420Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro81Leu Single submitter mucopolysaccharidosis type 4A
p.Ser264Asn Single submitter mucopolysaccharidosis type 4A
p.Ser341Arg Single submitter mucopolysaccharidosis type 4A
p.Ser349fs Single submitter mucopolysaccharidosis type 4A
p.Thr206Pro Single submitter Abnormality of the skeletal system
p.Thr312Ala Single submitter mucopolysaccharidosis type 4A ⚠
p.Thr428Lys Single submitter mucopolysaccharidosis type 4A ⚠
p.Trp326Ter Single submitter mucopolysaccharidosis type 4A
p.Trp405Ter Single submitter mucopolysaccharidosis type 4A
p.Trp496Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Tyr133Asn Single submitter
p.Tyr254Ter Single submitter mucopolysaccharidosis type 4A
p.Val180Ala Single submitter ⚠
p.Val239Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Val427fs Single submitter mucopolysaccharidosis type 4A
p.Gly96fs No assertion criteria mucopolysaccharidosis type 4A

Conflicting classifications of pathogenicity 147

c.1002+307G>C Single submitter mucopolysaccharidosis type 4A
c.1003-10T>C Single submitter mucopolysaccharidosis type 4A
c.1003-3C>G Single submitter mucopolysaccharidosis type 4A
c.1140-15C>T Single submitter mucopolysaccharidosis type 4A
c.121-210C>T Single submitter mucopolysaccharidosis type 4A
c.121-4G>A Single submitter mucopolysaccharidosis type 4A
c.121-7C>G Single submitter mucopolysaccharidosis type 4A
c.1242+3A>G Single submitter mucopolysaccharidosis type 4A
c.1483-15A>G Single submitter mucopolysaccharidosis type 4A
c.245-11C>G Single submitter mucopolysaccharidosis type 4
c.319+15G>T Single submitter mucopolysaccharidosis type 4A
c.422+2dup Single submitter mucopolysaccharidosis type 4A
c.566+3A>C Single submitter mucopolysaccharidosis type 4A
c.567-3C>T Single submitter mucopolysaccharidosis type 4A
c.633+13G>C Single submitter mucopolysaccharidosis type 4A
c.759-67G>A Single submitter mucopolysaccharidosis type 4A
c.899-167A>G Single submitter mucopolysaccharidosis type 4A
c.899-6T>C Single submitter mucopolysaccharidosis type 4A
c.*3C>G Single submitter mucopolysaccharidosis type 4A
p.Ala213Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala234Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala257= Single submitter mucopolysaccharidosis type 4A
p.Ala278Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala291Ser Single submitter mucopolysaccharidosis type 4 ⚠
p.Ala296Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala351Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala353= Single submitter mucopolysaccharidosis type 4A
p.Ala392= Single submitter mucopolysaccharidosis type 4A
p.Ala393del Single submitter mucopolysaccharidosis type 4A
p.Ala459Thr Single submitter Inborn genetic diseases ⚠
p.Ala84Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg105Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg222Gln Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg253Trp Single submitter mucopolysaccharidosis type 4 ⚠
p.Arg259Trp Single submitter GALNS-related disorders ⚠
p.Arg376Gln Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg380Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg380Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg380Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg386His Single submitter mucopolysaccharidosis type 4 ⚠
p.Arg90Gln Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn101= Single submitter mucopolysaccharidosis type 4A
p.Asn164Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn280del Single submitter mucopolysaccharidosis type 4A
p.Asn289Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn32Asp Single submitter mucopolysaccharidosis type 4 ⚠
p.Asn32Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn407His Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn423= Single submitter mucopolysaccharidosis type 4A
p.Asn487Ser Single submitter mucopolysaccharidosis type 4 ⚠
p.Asn487Tyr Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn495Lys Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn495Tyr Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn95Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Asp183Tyr Single submitter mucopolysaccharidosis type 4A ⚠
p.Asp388Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Asp39Tyr Single submitter mucopolysaccharidosis type 4A ⚠
p.Asp40Asn Single submitter mucopolysaccharidosis type 4A ⚠
p.Cys308Arg Single submitter mucopolysaccharidosis type 4 ⚠
p.Cys501Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Cys507Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Cys507Phe Single submitter mucopolysaccharidosis type 4 ⚠
p.Gln334Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu193Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu298Lys Single submitter Inborn genetic diseases ⚠
p.Glu477_Gln485del Single submitter mucopolysaccharidosis type 4A
p.Gly139Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly155Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly168Leu Single submitter mucopolysaccharidosis type 4A
p.Gly188Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly201Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly247Asp Single submitter mucopolysaccharidosis type 4 ⚠
p.Gly304Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly304Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly316Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly317Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly317Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly396Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly421Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly500Cys Single submitter mucopolysaccharidosis type 4 ⚠
p.Gly500Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly50Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly66Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly96Cys Single submitter mucopolysaccharidosis type 4A ⚠
p.His142Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.His142Gln Single submitter mucopolysaccharidosis type 4A ⚠
p.His166Gln Single submitter mucopolysaccharidosis type 4 ⚠
p.His329Pro Single submitter mucopolysaccharidosis type 4 ⚠
p.His401Tyr Single submitter mucopolysaccharidosis type 4A ⚠
p.Ile416Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu214Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu275Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu307= Single submitter mucopolysaccharidosis type 4A
p.Leu307Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu36_Leu37del Single submitter mucopolysaccharidosis type 4
p.Leu36Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu390Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu59= Single submitter mucopolysaccharidosis type 4A
p.Lys130del Single submitter mucopolysaccharidosis type 4A
p.Lys399Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Met1Ile Single submitter mucopolysaccharidosis type 4A
p.Met41Lys Single submitter mucopolysaccharidosis type 4 ⚠
p.Met494Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe156Cys Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe167Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe284Val Single submitter mucopolysaccharidosis type 4 ⚠
p.Phe306Cys Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe306Val Single submitter mucopolysaccharidosis type 4 ⚠
p.Phe452Ile Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe452Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe97Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro125Gln Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro179Ser Single submitter mucopolysaccharidosis type 4 ⚠
p.Pro370Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro381Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro420Arg Single submitter mucopolysaccharidosis type 4 ⚠
p.Pro484Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro484Ser Single submitter mucopolysaccharidosis type 4 ⚠
p.Pro498Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro499Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro52Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro77Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Ser120Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Ser242Cys Single submitter mucopolysaccharidosis type 4A ⚠
p.Ser336= Single submitter mucopolysaccharidosis type 4A
p.Ser470Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Ser82Leu Single submitter mucopolysaccharidosis type 4 ⚠
p.Ter523Trp Single submitter mucopolysaccharidosis type 4A
p.Thr286= Single submitter mucopolysaccharidosis type 4A
p.Thr286Met Single submitter mucopolysaccharidosis type 4A ⚠
p.Thr312Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Thr331= Single submitter mucopolysaccharidosis type 4A
p.Thr371= Single submitter mucopolysaccharidosis type 4A
p.Trp141Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Trp141Cys Single submitter mucopolysaccharidosis type 4A ⚠
p.Trp520Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Tyr108= Single submitter mucopolysaccharidosis type 4A
p.Tyr181Cys Single submitter mucopolysaccharidosis type 4 ⚠
p.Tyr190Cys Single submitter mucopolysaccharidosis type 4A ⚠
p.Tyr191Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Tyr229His Single submitter mucopolysaccharidosis type 4A ⚠
p.Tyr254Cys Single submitter mucopolysaccharidosis type 4A ⚠
p.Tyr73Cys Single submitter mucopolysaccharidosis type 4A ⚠
p.Val138Ile Single submitter mucopolysaccharidosis type 4A ⚠
p.Val239Phe Single submitter mucopolysaccharidosis type 4A ⚠
p.Val258Ile Single submitter mucopolysaccharidosis type 4A ⚠
p.Val48Ala Single submitter mucopolysaccharidosis type 4A ⚠

Benign 90

c.1002+17C>T Multiple submitters mucopolysaccharidosis type 4A
c.1003-127G>A Multiple submitters
c.1003-170T>C Multiple submitters
c.1139+97G>C Multiple submitters
c.1140-161C>A Multiple submitters
c.1140-163A>G Multiple submitters
c.1140-85C>T Multiple submitters
c.120+1532G>C Multiple submitters mucopolysaccharidosis type 4A
c.120+46A>C Multiple submitters
c.121-208A>G Multiple submitters
c.1242+36C>T Multiple submitters
c.1242+97G>T Multiple submitters
c.1365-129A>G Multiple submitters
c.1483-32G>C Multiple submitters mucopolysaccharidosis type 4A
c.244+19C>T Multiple submitters mucopolysaccharidosis type 4A
c.244+49C>T Multiple submitters mucopolysaccharidosis type 4A
c.244+86G>A Multiple submitters
c.245-65G>A Multiple submitters
c.422+117C>A Multiple submitters
c.422+273A>G Multiple submitters
c.422+78A>G Multiple submitters
c.423-901T>C Multiple submitters
c.566+10C>T Multiple submitters mucopolysaccharidosis type 4A
c.566+5T>C Multiple submitters mucopolysaccharidosis type 4A
c.567-105T>C Multiple submitters
c.567-145A>G Multiple submitters
c.567-148C>A Multiple submitters
c.633+91T>C Multiple submitters
c.634-19G>A Multiple submitters mucopolysaccharidosis type 4A
c.634-20C>T Multiple submitters mucopolysaccharidosis type 4A
c.758+135G>A Multiple submitters
c.758+22C>T Multiple submitters mucopolysaccharidosis type 4A
c.759-84G>A Multiple submitters
c.759-90A>T Multiple submitters
c.898+25C>G Multiple submitters mucopolysaccharidosis type 4A
c.898+42G>C Multiple submitters mucopolysaccharidosis type 4A
c.898+68G>A Multiple submitters
c.899-4C>G Multiple submitters mucopolysaccharidosis type 4A
c.*367T>C Multiple submitters mucopolysaccharidosis type 4A
c.*36G>A Multiple submitters mucopolysaccharidosis type 4A
c.*611A>G Multiple submitters mucopolysaccharidosis type 4A
c.*652A>G Multiple submitters mucopolysaccharidosis type 4A
c.*701C>G Multiple submitters mucopolysaccharidosis type 4A
p.Ala231Gly Multiple submitters mucopolysaccharidosis type 4A
p.Ala459Val Multiple submitters mucopolysaccharidosis type 4A
p.Asn106= Multiple submitters mucopolysaccharidosis type 4A
p.Glu477= Multiple submitters mucopolysaccharidosis type 4A
p.His236= Multiple submitters mucopolysaccharidosis type 4A
p.Leu67Met Multiple submitters mucopolysaccharidosis type 4A
p.Phe282= Multiple submitters mucopolysaccharidosis type 4A
p.Thr200Met Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Tyr170= Multiple submitters mucopolysaccharidosis type 4A
p.Val488Met Multiple submitters mucopolysaccharidosis type 4A
c.1139+20del Single submitter mucopolysaccharidosis type 4A
c.1140-210_1140-188dup Single submitter
c.120+13G>A Single submitter mucopolysaccharidosis type 4A
c.121-17C>T Single submitter mucopolysaccharidosis type 4A
c.1242+149G>A Single submitter
c.1243-309A>G Single submitter
c.1364+256T>C Single submitter
c.1365-243C>T Single submitter
c.1365-277T>C Single submitter
c.1365-281A>G Single submitter
c.1365-285G>A Single submitter
c.1365-304G>A Single submitter
c.1365-310T>C Single submitter
c.1482+121T>G Single submitter
c.1482+281C>T Single submitter
c.1482+599C>T Single submitter
c.244+14del Single submitter mucopolysaccharidosis type 4A
c.320-342G>A Single submitter
c.422+328G>A Single submitter
c.423-253G>A Single submitter
c.423-627T>C Single submitter
c.566+134G>A Single submitter
c.566+234G>T Single submitter
c.566+322G>T Single submitter
c.567-256C>G Single submitter
c.633+125A>G Single submitter
c.633+138C>A Single submitter
c.633+9del Single submitter mucopolysaccharidosis type 4A
c.634-125C>T Single submitter
c.634-130T>C Single submitter
c.634-134A>G Single submitter
c.759-16del Single submitter mucopolysaccharidosis type 4A
c.898+208G>A Single submitter
c.898+228_898+229del Single submitter
c.899-276G>A Single submitter
c.899-277G>A Single submitter
c.566+30C>T No assertion criteria

Benign/Likely benign 10

c.1003-42C>T Multiple submitters mucopolysaccharidosis type 4A
c.-68C>T Multiple submitters mucopolysaccharidosis type 4A
c.-92T>C Multiple submitters mucopolysaccharidosis type 4A
c.*224C>G Multiple submitters mucopolysaccharidosis type 4A
c.*296A>G Multiple submitters mucopolysaccharidosis type 4A
c.*524G>C Multiple submitters mucopolysaccharidosis type 4A
p.Ala241= Multiple submitters mucopolysaccharidosis type 4A
p.His142= Multiple submitters mucopolysaccharidosis type 4A
p.Pro481= Multiple submitters mucopolysaccharidosis type 4A
p.Val480Phe Multiple submitters mucopolysaccharidosis type 4A ⚠

Likely benign 447

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

c.1139+108C>T Multiple submitters
c.120+14G>A Multiple submitters mucopolysaccharidosis type 4A
c.121-209G>A Multiple submitters
c.1242+18T>G Multiple submitters mucopolysaccharidosis type 4A
c.1243-45G>A Multiple submitters
c.1364+8G>A Multiple submitters mucopolysaccharidosis type 4A
c.1365-81C>T Multiple submitters
c.1482+109C>T Multiple submitters
c.244+59C>T Multiple submitters
c.245-4A>G Multiple submitters mucopolysaccharidosis type 4A
c.320-7C>T Multiple submitters mucopolysaccharidosis type 4A
c.423-128A>G Multiple submitters
c.423-161C>T Multiple submitters
c.423-89A>G Multiple submitters
c.633+22T>C Multiple submitters
c.759-129G>C Multiple submitters
c.898+100C>T Multiple submitters
c.899-19A>G Multiple submitters mucopolysaccharidosis type 4A
c.-32C>T Multiple submitters mucopolysaccharidosis type 4A
c.*236C>T Multiple submitters mucopolysaccharidosis type 4A
p.Ala102= Multiple submitters mucopolysaccharidosis type 4A
p.Ala64= Multiple submitters mucopolysaccharidosis type 4A
p.Asp233= Multiple submitters mucopolysaccharidosis type 4A
p.Gly155= Multiple submitters mucopolysaccharidosis type 4A
p.Gly252= Multiple submitters mucopolysaccharidosis type 4A
p.His276= Multiple submitters mucopolysaccharidosis type 4A
p.His329= Multiple submitters mucopolysaccharidosis type 4A
p.Leu13= Multiple submitters mucopolysaccharidosis type 4A
p.Leu323= Multiple submitters mucopolysaccharidosis type 4A
p.Leu36= Multiple submitters mucopolysaccharidosis type 4A
p.Leu395= Multiple submitters mucopolysaccharidosis type 4A
p.Leu46= Multiple submitters mucopolysaccharidosis type 4A
p.Leu486= Multiple submitters mucopolysaccharidosis type 4A
p.Lys517= Multiple submitters mucopolysaccharidosis type 4A
p.Pro238= Multiple submitters mucopolysaccharidosis type 4A
p.Ser458= Multiple submitters mucopolysaccharidosis type 4A
p.Thr313= Multiple submitters mucopolysaccharidosis type 4A
p.Leu36= Single submitter mucopolysaccharidosis type 4A
p.Thr8= Single submitter mucopolysaccharidosis type 4A
c.1002+108C>G Single submitter
c.1002+10C>T Single submitter mucopolysaccharidosis type 4A
c.1002+11del Single submitter mucopolysaccharidosis type 4A
c.1002+11G>A Single submitter mucopolysaccharidosis type 4A
c.1002+157A>G Single submitter
c.1002+16C>G Single submitter mucopolysaccharidosis type 4A
c.1002+16C>T Single submitter mucopolysaccharidosis type 4A
c.1002+172A>G Single submitter
c.1002+174C>T Single submitter
c.1002+18G>A Single submitter mucopolysaccharidosis type 4A
c.1002+19G>C Single submitter mucopolysaccharidosis type 4A
c.1002+19G>T Single submitter mucopolysaccharidosis type 4A
c.1002+7C>G Single submitter mucopolysaccharidosis type 4A
c.1002+8A>G Single submitter mucopolysaccharidosis type 4A
c.1002+9G>C Single submitter mucopolysaccharidosis type 4A
c.1003-134del Single submitter
c.1003-16C>T Single submitter mucopolysaccharidosis type 4A
c.1003-19T>C Single submitter mucopolysaccharidosis type 4A
c.1003-7_1003-6del Single submitter mucopolysaccharidosis type 4A
c.1139+13C>A Single submitter mucopolysaccharidosis type 4A
c.1139+14C>T Single submitter mucopolysaccharidosis type 4A
c.1139+18C>A Single submitter mucopolysaccharidosis type 4A
c.1139+19C>T Single submitter mucopolysaccharidosis type 4A
c.1139+20C>A Single submitter mucopolysaccharidosis type 4A
c.1139+20C>T Single submitter mucopolysaccharidosis type 4A
c.1139+237C>A Single submitter
c.1140-10C>G Single submitter mucopolysaccharidosis type 4A
c.1140-14C>T Single submitter mucopolysaccharidosis type 4A
c.1140-164_1140-163insCCCAGGCACCCCAGCCCCGGACA Single submitter
c.1140-20C>T Single submitter mucopolysaccharidosis type 4A
c.1140-256_1140-242del Single submitter
c.1140-5C>T Single submitter mucopolysaccharidosis type 4A
c.120+12C>G Single submitter mucopolysaccharidosis type 4A
c.120+12C>T Single submitter mucopolysaccharidosis type 4A
c.120+13G>C Single submitter mucopolysaccharidosis type 4A
c.120+13G>T Single submitter mucopolysaccharidosis type 4A
c.120+15T>C Single submitter mucopolysaccharidosis type 4A
c.120+17G>A Single submitter mucopolysaccharidosis type 4A
c.120+19_120+29del Single submitter mucopolysaccharidosis type 4A
c.120+19A>C Single submitter mucopolysaccharidosis type 4A
c.120+20C>T Single submitter mucopolysaccharidosis type 4A
c.120+489C>T Single submitter
c.120+8C>G Single submitter mucopolysaccharidosis type 4A
c.120+9G>C Single submitter mucopolysaccharidosis type 4A
c.120+9G>T Single submitter mucopolysaccharidosis type 4A
c.121-10T>C Single submitter mucopolysaccharidosis type 4A
c.121-12T>C Single submitter mucopolysaccharidosis type 4A
c.121-13C>T Single submitter mucopolysaccharidosis type 4A
c.121-16G>A Single submitter mucopolysaccharidosis type 4A
c.121-16G>C Single submitter mucopolysaccharidosis type 4A
c.121-16G>T Single submitter mucopolysaccharidosis type 4A
c.121-182C>T Single submitter
c.121-188G>A Single submitter
c.121-189C>T Single submitter
c.121-18C>A Single submitter mucopolysaccharidosis type 4A
c.121-18C>G Single submitter mucopolysaccharidosis type 4A
c.121-18C>T Single submitter mucopolysaccharidosis type 4A
c.121-19C>T Single submitter mucopolysaccharidosis type 4A
c.121-20C>T Single submitter mucopolysaccharidosis type 4A
c.121-216C>T Single submitter
c.121-262G>A Single submitter
c.121-5T>C Single submitter mucopolysaccharidosis type 4A
c.121-6C>T Single submitter mucopolysaccharidosis type 4A
c.1242+10T>C Single submitter mucopolysaccharidosis type 4A
c.1242+11C>T Single submitter mucopolysaccharidosis type 4A
c.1242+12G>A Single submitter mucopolysaccharidosis type 4A
c.1242+12G>C Single submitter mucopolysaccharidosis type 4A
c.1242+13G>C Single submitter mucopolysaccharidosis type 4A
c.1242+15A>G Single submitter mucopolysaccharidosis type 4A
c.1242+16C>T Single submitter mucopolysaccharidosis type 4A
c.1242+17G>A Single submitter mucopolysaccharidosis type 4A
c.1242+17G>T Single submitter mucopolysaccharidosis type 4A
c.1242+19G>T Single submitter mucopolysaccharidosis type 4A
c.1242+20G>C Single submitter mucopolysaccharidosis type 4A
c.1242+29G>A Single submitter
c.1242+7G>C Single submitter mucopolysaccharidosis type 4A
c.1242+8G>A Single submitter mucopolysaccharidosis type 4A
c.1242+8G>C Single submitter mucopolysaccharidosis type 4A
c.1243-10C>T Single submitter mucopolysaccharidosis type 4A
c.1243-11T>A Single submitter mucopolysaccharidosis type 4A
c.1243-13C>A Single submitter mucopolysaccharidosis type 4A
c.1243-13C>T Single submitter mucopolysaccharidosis type 4A
c.1243-15C>T Single submitter mucopolysaccharidosis type 4A
c.1243-16C>T Single submitter
c.1243-17C>A Single submitter mucopolysaccharidosis type 4A
c.1243-17C>T Single submitter mucopolysaccharidosis type 4A
c.1243-243G>A Single submitter
c.1243-324G>T Single submitter
c.1243-4G>T Single submitter mucopolysaccharidosis type 4A
c.1364+11G>A Single submitter mucopolysaccharidosis type 4A
c.1364+14G>C Single submitter mucopolysaccharidosis type 4A
c.1364+15G>C Single submitter mucopolysaccharidosis type 4A
c.1364+17C>T Single submitter mucopolysaccharidosis type 4A
c.1364+7C>T Single submitter mucopolysaccharidosis type 4A
c.1364+8G>T Single submitter
c.1365-10C>T Single submitter mucopolysaccharidosis type 4A
c.1365-14CT[2] Single submitter mucopolysaccharidosis type 4A
c.1365-17G>C Single submitter mucopolysaccharidosis type 4A
c.1365-19C>T Single submitter mucopolysaccharidosis type 4A
c.1365-20C>G Single submitter mucopolysaccharidosis type 4A
c.1365-20C>T Single submitter mucopolysaccharidosis type 4A
c.1365-27C>T Single submitter
c.1365-324G>A Single submitter
c.1365-4C>G Single submitter mucopolysaccharidosis type 4A
c.1365-5C>G Single submitter mucopolysaccharidosis type 4A
c.1365-9T>C Single submitter mucopolysaccharidosis type 4A
c.1482+116G>A Single submitter
c.1482+184A>G Single submitter
c.1482+189C>T Single submitter
c.1482+7G>T Single submitter mucopolysaccharidosis type 4A
c.1482+9C>T Single submitter mucopolysaccharidosis type 4A
c.1483-12T>C Single submitter mucopolysaccharidosis type 4A
c.1483-13T>G Single submitter mucopolysaccharidosis type 4A
c.1483-17C>T Single submitter mucopolysaccharidosis type 4A
c.1483-19C>T Single submitter mucopolysaccharidosis type 4A
c.1483-9A>G Single submitter mucopolysaccharidosis type 4A
c.244+10C>T Single submitter mucopolysaccharidosis type 4A
c.244+11G>A Single submitter mucopolysaccharidosis type 4A
c.244+14G>T Single submitter mucopolysaccharidosis type 4A
c.244+17C>T Single submitter mucopolysaccharidosis type 4A
c.244+20G>A Single submitter mucopolysaccharidosis type 4A
c.244+8A>G Single submitter mucopolysaccharidosis type 4A
c.244+9G>C Single submitter mucopolysaccharidosis type 4A
c.245-10C>G Single submitter mucopolysaccharidosis type 4A
c.245-13C>T Single submitter mucopolysaccharidosis type 4A
c.245-15G>A Single submitter mucopolysaccharidosis type 4A
c.245-15G>C Single submitter mucopolysaccharidosis type 4A
c.245-17C>T Single submitter mucopolysaccharidosis type 4A
c.245-25TTCTGT[3] Single submitter mucopolysaccharidosis type 4A
c.245-28A>G Single submitter
c.245-5C>T Single submitter mucopolysaccharidosis type 4A
c.245-7C>T Single submitter mucopolysaccharidosis type 4A
c.319+10_319+11dup Single submitter mucopolysaccharidosis type 4A
c.319+14C>A Single submitter mucopolysaccharidosis type 4A
c.319+14C>T Single submitter mucopolysaccharidosis type 4A
c.319+15G>A Single submitter mucopolysaccharidosis type 4A
c.319+16C>T Single submitter mucopolysaccharidosis type 4A
c.319+20C>T Single submitter mucopolysaccharidosis type 4A
c.320-13G>A Single submitter mucopolysaccharidosis type 4A
c.320-14C>T Single submitter mucopolysaccharidosis type 4A
c.320-18C>T Single submitter mucopolysaccharidosis type 4A
c.320-4C>G Single submitter
c.320-9C>T Single submitter mucopolysaccharidosis type 4A
c.422+10C>T Single submitter mucopolysaccharidosis type 4A
c.422+14C>T Single submitter mucopolysaccharidosis type 4A
c.422+17C>T Single submitter mucopolysaccharidosis type 4A
c.422+18G>A Single submitter mucopolysaccharidosis type 4A
c.422+19C>G Single submitter mucopolysaccharidosis type 4A
c.422+20C>T Single submitter mucopolysaccharidosis type 4A
c.422+9C>G Single submitter mucopolysaccharidosis type 4A
c.423-1049C>T Single submitter
c.423-14G>A Single submitter mucopolysaccharidosis type 4A
c.423-15G>C Single submitter mucopolysaccharidosis type 4A
c.423-16G>C Single submitter mucopolysaccharidosis type 4A
c.423-19C>G Single submitter mucopolysaccharidosis type 4A
c.423-20T>C Single submitter mucopolysaccharidosis type 4A
c.423-239G>A Single submitter
c.423-4C>T Single submitter mucopolysaccharidosis type 4A
c.423-5del Single submitter mucopolysaccharidosis type 4A
c.423-8G>A Single submitter mucopolysaccharidosis type 4A
c.423-8G>C Single submitter mucopolysaccharidosis type 4A
c.566+110T>G Single submitter
c.566+11C>T Single submitter mucopolysaccharidosis type 4A
c.566+12C>T Single submitter mucopolysaccharidosis type 4A
c.566+13C>T Single submitter mucopolysaccharidosis type 4A
c.566+16C>G Single submitter mucopolysaccharidosis type 4A
c.566+16C>T Single submitter mucopolysaccharidosis type 4A
c.566+17C>A Single submitter mucopolysaccharidosis type 4A
c.566+17C>T Single submitter mucopolysaccharidosis type 4A
c.566+186T>C Single submitter
c.566+195T>C Single submitter
c.566+9G>A Single submitter mucopolysaccharidosis type 4A
c.567-13G>A Single submitter mucopolysaccharidosis type 4A
c.567-14T>C Single submitter mucopolysaccharidosis type 4A
c.567-14T>G Single submitter mucopolysaccharidosis type 4A
c.567-15C>T Single submitter mucopolysaccharidosis type 4A
c.567-17A>G Single submitter mucopolysaccharidosis type 4A
c.567-247G>A Single submitter
c.567-259G>A Single submitter
c.633+12C>T Single submitter mucopolysaccharidosis type 4A
c.633+13dup Single submitter mucopolysaccharidosis type 4A
c.633+13G>A Single submitter mucopolysaccharidosis type 4A
c.633+13G>T Single submitter mucopolysaccharidosis type 4A
c.633+157G>A Single submitter
c.633+15A>G Single submitter mucopolysaccharidosis type 4A
c.633+16C>T Single submitter mucopolysaccharidosis type 4A
c.633+18A>G Single submitter mucopolysaccharidosis type 4A
c.634-10C>G Single submitter mucopolysaccharidosis type 4A
c.634-13G>A Single submitter mucopolysaccharidosis type 4A
c.634-14G>T Single submitter mucopolysaccharidosis type 4A
c.758+12C>A Single submitter mucopolysaccharidosis type 4A
c.758+14C>T Single submitter mucopolysaccharidosis type 4A
c.758+15C>T Single submitter mucopolysaccharidosis type 4A
c.758+16A>G Single submitter mucopolysaccharidosis type 4A
c.758+17T>C Single submitter mucopolysaccharidosis type 4A
c.758+7C>T Single submitter mucopolysaccharidosis type 4A
c.758+94C>T Single submitter
c.759-15G>C Single submitter mucopolysaccharidosis type 4A
c.759-6C>T Single submitter mucopolysaccharidosis type 4A
c.759-7C>A Single submitter mucopolysaccharidosis type 4A
c.898+11G>A Single submitter mucopolysaccharidosis type 4A
c.898+11G>T Single submitter mucopolysaccharidosis type 4A
c.898+12C>A Single submitter mucopolysaccharidosis type 4A
c.898+13T>C Single submitter mucopolysaccharidosis type 4A
c.898+7G>A Single submitter mucopolysaccharidosis type 4A
c.898+8C>T Single submitter mucopolysaccharidosis type 4A
c.899-10TC[2] Single submitter mucopolysaccharidosis type 4A
c.899-12C>T Single submitter mucopolysaccharidosis type 4A
c.899-13C>T Single submitter mucopolysaccharidosis type 4A
c.899-14C>A Single submitter mucopolysaccharidosis type 4A
c.899-15G>T Single submitter mucopolysaccharidosis type 4A
c.899-169_899-166del Single submitter mucopolysaccharidosis type 4A
c.899-177G>A Single submitter
c.899-179G>A Single submitter
c.899-19A>T Single submitter mucopolysaccharidosis type 4A
c.899-20C>T Single submitter mucopolysaccharidosis type 4A
c.899-5C>T Single submitter mucopolysaccharidosis type 4A
c.899-9C>G Single submitter mucopolysaccharidosis type 4A
c.*546C>T Single submitter mucopolysaccharidosis type 4A
p.Ala104= Single submitter mucopolysaccharidosis type 4A
p.Ala107= Single submitter mucopolysaccharidosis type 4A
p.Ala174= Single submitter mucopolysaccharidosis type 4A
p.Ala20= Single submitter mucopolysaccharidosis type 4A
p.Ala203= Single submitter mucopolysaccharidosis type 4A
p.Ala213= Single submitter mucopolysaccharidosis type 4A
p.Ala221= Single submitter mucopolysaccharidosis type 4A
p.Ala231= Single submitter mucopolysaccharidosis type 4A
p.Ala234= Single submitter mucopolysaccharidosis type 4A
p.Ala27= Single submitter mucopolysaccharidosis type 4A
p.Ala278= Single submitter mucopolysaccharidosis type 4A
p.Ala296= Single submitter mucopolysaccharidosis type 4A
p.Ala3= Single submitter mucopolysaccharidosis type 4A
p.Ala324= Single submitter mucopolysaccharidosis type 4A
p.Ala362= Single submitter mucopolysaccharidosis type 4A
p.Ala393Ser Single submitter mucopolysaccharidosis type 4A
p.Ala459= Single submitter mucopolysaccharidosis type 4A
p.Ala464= Single submitter mucopolysaccharidosis type 4A
p.Ala478= Single submitter mucopolysaccharidosis type 4A
p.Ala482= Single submitter mucopolysaccharidosis type 4A
p.Ala492= Single submitter mucopolysaccharidosis type 4A
p.Ala6= Single submitter mucopolysaccharidosis type 4A
p.Ala7= Single submitter mucopolysaccharidosis type 4A
p.Ala75= Single submitter
p.Ala84= Single submitter mucopolysaccharidosis type 4A
p.Arg182= Single submitter mucopolysaccharidosis type 4A
p.Arg219= Single submitter mucopolysaccharidosis type 4A
p.Arg222= Single submitter mucopolysaccharidosis type 4A
p.Arg251= Single submitter mucopolysaccharidosis type 4A
p.Arg259= Single submitter mucopolysaccharidosis type 4A
p.Arg361= Single submitter mucopolysaccharidosis type 4A
p.Arg446Trp Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn204= Single submitter mucopolysaccharidosis type 4A
p.Asn289= Single submitter mucopolysaccharidosis type 4A
p.Asn303= Single submitter mucopolysaccharidosis type 4A
p.Asn32= Single submitter mucopolysaccharidosis type 4A
p.Asn367= Single submitter mucopolysaccharidosis type 4A
p.Asn487= Single submitter mucopolysaccharidosis type 4A
p.Asn495= Single submitter
p.Asp157= Single submitter mucopolysaccharidosis type 4A
p.Asp256= Single submitter mucopolysaccharidosis type 4A
p.Asp262= Single submitter mucopolysaccharidosis type 4A

Uncertain significance 351

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

c.1003-10T>G Multiple submitters mucopolysaccharidosis type 4A
c.120+4A>G Multiple submitters mucopolysaccharidosis type 4A
c.121-157C>T Multiple submitters mucopolysaccharidosis type 4A
c.121-202A>G Multiple submitters mucopolysaccharidosis type 4A
c.1364+6T>A Multiple submitters mucopolysaccharidosis type 4A
c.1482+4A>G Multiple submitters mucopolysaccharidosis type 4A
c.1482+5G>A Multiple submitters mucopolysaccharidosis type 4A
c.-42G>T Multiple submitters mucopolysaccharidosis type 4A
c.-54G>A Multiple submitters mucopolysaccharidosis type 4A
c.*212C>A Multiple submitters mucopolysaccharidosis type 4A
c.*86C>T Multiple submitters mucopolysaccharidosis type 4A
p.403WT[1] Multiple submitters mucopolysaccharidosis type 4A
p.Ala102Thr Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ala203Val Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ala231Val Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ala257Thr Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ala322Pro Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ala351Val Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ala492Val Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ala84Val Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Arg222Trp Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Arg253Gln Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Arg376Trp Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Arg380Lys Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Arg413Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn289Asp Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Asn303Lys Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Asn71Asp Multiple submitters Inborn genetic diseases ⚠
p.Asn71Lys Multiple submitters mucopolysaccharidosis type 4A
p.Asp360Asn Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Asp45Gly Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Glu260Asp Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Gly132Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly304Asp Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Gly365Val Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Gly505Arg Multiple submitters Inborn genetic diseases ⚠
p.His150Tyr Multiple submitters mucopolysaccharidosis type 4A ⚠
p.His475Asn Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ile363Val Multiple submitters Inborn genetic diseases ⚠
p.Ile514Val Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ile93Asn Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ile93Thr Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Leu352Pro Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Leu366Pro Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Leu369Phe Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Leu395Val Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Lys199Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys310Asn Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Met22Ile Multiple submitters Inborn genetic diseases ⚠
p.Met318Leu Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Met494Thr Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Phe226Leu Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Phe306Ser Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Pro30Leu Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Pro357Leu Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Pro57Leu Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Pro57Ser Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Ter523Gln Multiple submitters mucopolysaccharidosis type 4A
p.Thr109Ile Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Thr429Ile Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Thr99Pro Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Trp491Arg Multiple submitters Inborn genetic diseases ⚠
p.Trp496Cys Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Tyr133Ser Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Tyr170Cys Multiple submitters ⚠
p.Val239Ile Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Val424Ile Multiple submitters mucopolysaccharidosis type 4A ⚠
p.Met38Leu Single submitter ⚠
c.1002+4A>T Single submitter mucopolysaccharidosis type 4A
c.1140-2A>G Single submitter mucopolysaccharidosis type 4A
c.121-298A>G Single submitter GALNS-related disorder
c.121-31T>C Single submitter mucopolysaccharidosis type 4A
c.121-3C>T Single submitter
c.121-9T>G Single submitter mucopolysaccharidosis type 4A
c.1243-10C>G Single submitter mucopolysaccharidosis type 4A
c.1482+1G>A Single submitter mucopolysaccharidosis type 4A
c.1482+2dup Single submitter
c.1482+5G>C Single submitter mucopolysaccharidosis type 4A
c.245-11C>T Single submitter mucopolysaccharidosis type 4A
c.423-16G>A Single submitter mucopolysaccharidosis type 4A
c.566+6G>A Single submitter mucopolysaccharidosis type 4A
c.634-5C>G Single submitter mucopolysaccharidosis type 4A
c.758+3G>A Single submitter mucopolysaccharidosis type 4A
c.758+4A>T Single submitter mucopolysaccharidosis type 4A
c.759-3C>G Single submitter mucopolysaccharidosis type 4A
c.898+4A>G Single submitter mucopolysaccharidosis type 4A
c.-10C>G Single submitter mucopolysaccharidosis type 4A
c.-58C>A Single submitter mucopolysaccharidosis type 4A
c.-58C>G Single submitter mucopolysaccharidosis type 4A
c.*123G>C Single submitter mucopolysaccharidosis type 4A
c.*140C>A Single submitter mucopolysaccharidosis type 4A
c.*144T>C Single submitter mucopolysaccharidosis type 4A
c.*145C>T Single submitter mucopolysaccharidosis type 4A
c.*186C>G Single submitter mucopolysaccharidosis type 4A
c.*197C>T Single submitter mucopolysaccharidosis type 4A
c.*20C>G Single submitter mucopolysaccharidosis type 4A
c.*261T>G Single submitter mucopolysaccharidosis type 4A
c.*263T>C Single submitter mucopolysaccharidosis type 4A
c.*270T>C Single submitter mucopolysaccharidosis type 4A
c.*287T>C Single submitter mucopolysaccharidosis type 4A
c.*29A>C Single submitter mucopolysaccharidosis type 4A
c.*387T>G Single submitter mucopolysaccharidosis type 4A
c.*503T>G Single submitter mucopolysaccharidosis type 4A
c.*520C>A Single submitter mucopolysaccharidosis type 4A
c.*523G>A Single submitter mucopolysaccharidosis type 4A
c.*573A>G Single submitter mucopolysaccharidosis type 4A
c.*610G>T Single submitter mucopolysaccharidosis type 4A
c.*639T>G Single submitter mucopolysaccharidosis type 4A
c.*656T>C Single submitter mucopolysaccharidosis type 4A
c.*70T>C Single submitter mucopolysaccharidosis type 4A
c.*95T>A Single submitter mucopolysaccharidosis type 4A
p.Ala107Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala107Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala221Gly Single submitter Inborn genetic diseases ⚠
p.Ala237Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala241Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala278Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala291Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala296Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala324Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala324Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala324Thr Single submitter Inborn genetic diseases ⚠
p.Ala324Val Single submitter ⚠
p.Ala332Pro Single submitter Inborn genetic diseases ⚠
p.Ala353Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala353Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala3Val Single submitter Inborn genetic diseases ⚠
p.Ala400Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala464Asp Single submitter ⚠
p.Ala464Val Single submitter Inborn genetic diseases ⚠
p.Ala64Ile Single submitter mucopolysaccharidosis type 4A
p.Ala6Ser Single submitter Inborn genetic diseases ⚠
p.Ala75Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Ala84Thr Single submitter ⚠
p.Ala85Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg219Lys Single submitter Inborn genetic diseases ⚠
p.Arg259Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg319Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg361Met Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg386Gly Single submitter ⚠
p.Arg386Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg413Gly Single submitter Inborn genetic diseases ⚠
p.Arg54Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Arg90Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn101Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn106Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn172del Single submitter mucopolysaccharidosis type 4A
p.Asn177His Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn177Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn289His Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn32Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn367Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn407Lys Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn423Lys Single submitter ⚠
p.Asn487Ile Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn487Lys Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn495Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn58Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn71_Ser74del Single submitter mucopolysaccharidosis type 4A
p.Asn76Lys Single submitter mucopolysaccharidosis type 4A ⚠
p.Asn95Lys Single submitter mucopolysaccharidosis type 4A ⚠
p.Asp171Ala Single submitter mucopolysaccharidosis type 4A ⚠
p.Asp183His Single submitter ⚠
p.Asp262Val Single submitter ⚠
p.Asp288Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Asp344Asn Single submitter mucopolysaccharidosis type 4A ⚠
p.Asp344Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Asp40Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Asp40Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Asp40Tyr Single submitter mucopolysaccharidosis type 4A ⚠
p.Cys308Trp Single submitter mucopolysaccharidosis type 4A ⚠
p.Gln111Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gln299Glu Single submitter ⚠
p.Gln422Lys Single submitter mucopolysaccharidosis type 4A ⚠
p.Gln473Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gln474Pro Single submitter ⚠
p.Gln476Pro Single submitter mucopolysaccharidosis type 4A
p.Glu121Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu126Gln Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu185Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu192Gly Single submitter ⚠
p.Glu260Lys Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu260Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu315Gln Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu315Lys Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu320Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu320Lys Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu450Gly Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu450Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Glu512Lys Single submitter Inborn genetic diseases ⚠
p.Gly116Asp Single submitter ⚠
p.Gly139Ala Single submitter ⚠
p.Gly161Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly168Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly188Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly23Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly252Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly255Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly255Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly26Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly290Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly290Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly300Val Single submitter mucopolysaccharidosis type 4A
p.Gly309Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly316Arg Single submitter ⚠
p.Gly316Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly340Cys Single submitter ⚠
p.Gly387Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly387Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly415Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly421Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly42Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly445Glu Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly449Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly44Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly47Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Gly89Val Single submitter ⚠
p.Gly96Val Single submitter mucopolysaccharidosis type 4A ⚠
p.His142Asn Single submitter mucopolysaccharidosis type 4A ⚠
p.His142Tyr Single submitter ⚠
p.His150Gln Single submitter Inborn genetic diseases
p.His154Asn Single submitter mucopolysaccharidosis type 4A ⚠
p.His166Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.His166Tyr Single submitter ⚠
p.His236Arg Single submitter mucopolysaccharidosis type 4A
p.His236Asp Single submitter mucopolysaccharidosis type 4A ⚠
p.His276Gln Single submitter mucopolysaccharidosis type 4A ⚠
p.His329Asn Single submitter mucopolysaccharidosis type 4A ⚠
p.His398Asp Single submitter mucopolysaccharidosis type 4A
p.His435Tyr Single submitter Inborn genetic diseases ⚠
p.Ile196Asn Single submitter mucopolysaccharidosis type 4A ⚠
p.Ile294Val Single submitter Inborn genetic diseases ⚠
p.Ile33Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Ile342Phe Single submitter mucopolysaccharidosis type 4A ⚠
p.Ile363Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Ile93Leu Single submitter ⚠
p.Leu15Met Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu15Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu214Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu269Pro Single submitter ⚠
p.Leu271Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu307Met Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu323Phe Single submitter Inborn genetic diseases ⚠
p.Leu339Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu339Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu345Gln Single submitter mucopolysaccharidosis type 4A
p.Leu345Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu34Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu366Phe Single submitter ⚠
p.Leu369Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu395Arg Single submitter Inborn genetic diseases ⚠
p.Leu395Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu454Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu504Ser Single submitter Inborn genetic diseases ⚠
p.Leu508Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu519Phe Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu67Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu86Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu87Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Leu91Pro Single submitter mucopolysaccharidosis type 4A ⚠
p.Lys136Gln Single submitter mucopolysaccharidosis type 4A ⚠
p.Lys516fs Single submitter mucopolysaccharidosis type 4A
p.Met1_Ala2del Single submitter mucopolysaccharidosis type 4A
p.Met343Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Met38Arg Single submitter ⚠
p.Met38Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe149Cys Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe156Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe227Ser Single submitter ⚠
p.Phe245Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe285Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe314Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe346Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Phe69Val Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro125Ala Single submitter ⚠
p.Pro151Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro151Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro163His Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro163Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro179His Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro179Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro195Ser Single submitter Inborn genetic diseases ⚠
p.Pro244His Single submitter Inborn genetic diseases ⚠
p.Pro305Thr Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro420Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro439Ser Single submitter ⚠
p.Pro481Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro484His Single submitter GALNS-related disorder ⚠
p.Pro498Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro511Ala Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro511Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro52_Glu55del Single submitter mucopolysaccharidosis type 4A
p.Pro77Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro77Thr Single submitter ⚠
p.Pro81Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro92Leu Single submitter mucopolysaccharidosis type 4A ⚠
p.Pro92Ser Single submitter mucopolysaccharidosis type 4A ⚠
p.Ser120Trp Single submitter Inborn genetic diseases ⚠
p.Ser135Arg Single submitter mucopolysaccharidosis type 4A ⚠
p.Ser18Thr Single submitter mucopolysaccharidosis type 4A ⚠