GUSB — 720 ClinVar variants
All ClinVar germline GUSB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 211 flagged for review →
47 Pathogenic · 17 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 30 Conflicting · 19 Benign · 7 Benign/Likely benign · 346 Likely benign · 217 Uncertain significance
Full GUSB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 211
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 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
GUSB p.Arg374Cys
Likely pathogenic
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.His424Tyr
Likely pathogenic
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ser485Phe
Likely pathogenic
Single submitter
mucopolysaccharidosis type 7
Predictors agree, ClinVar conflicts 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GUSB p.Ala330Ser
Conflicting
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ala413Val
Conflicting
Single submitter
Inborn genetic diseases
-
GUSB p.Ala442Thr
Conflicting
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg477Trp
Conflicting
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg57Leu
Conflicting
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg611Trp
Conflicting
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Asp362Asn
Conflicting
Single submitter
mucopolysaccharidosis type 7
- GUSB p.Gly512Arg Conflicting Single submitter
-
GUSB p.Gly583Arg
Conflicting
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Gly607Ala
Conflicting
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Lys471Thr
Conflicting
Single submitter
GUSB-related disorder
-
GUSB p.Ser5Pro
Conflicting
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Tyr320Ser
Conflicting
Single submitter
mucopolysaccharidosis type 7
Predictors lean, ClinVar uncertain 101
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
GUSB p.Arg116His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Arg327Cys
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Arg57Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Asn254His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Asp53Asn
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Asp591Asn
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Gln306His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.His127Arg
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.His509Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Lys606Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GUSB p.Phe51Ile Uncertain significance Multiple submitters
-
GUSB p.Pro408Ser
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Ser128Phe
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Ser539Arg
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Tyr195His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Tyr205His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Val269Leu
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Val429Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- GUSB p.Ala171Thr Uncertain significance Single submitter
-
GUSB p.Ala271Glu
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ala453Val
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg118Gly
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg122Ser
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg261Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Arg327His
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg327Leu
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg374His
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
- GUSB p.Arg3Leu Uncertain significance Single submitter
-
GUSB p.Arg477Gln
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
- GUSB p.Arg611Pro Uncertain significance Single submitter
-
GUSB p.Arg634Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Asn155Lys
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Asn155Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Asn272Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- GUSB p.Asn379Asp Uncertain significance Single submitter
-
GUSB p.Asn379Tyr
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Asn450Ser
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Asn502Lys
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Asp318Gly
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Asp474Gly
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Asp490Asn
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
- GUSB p.Asp50Tyr Uncertain significance Single submitter
-
GUSB p.Cys38Arg
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Gln113Arg
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Gln247Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Gln31Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Gln538His
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Gln62Arg
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Glu150Asp
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Glu295Lys
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
- GUSB p.Glu390Gly Uncertain significance Single submitter
-
GUSB p.Glu40Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Glu451Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- GUSB p.Glu540Lys Uncertain significance Single submitter
-
GUSB p.Glu595Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Gly144Trp
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Gly4Ala
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Gly4Arg
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Gly548Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Gly572Ser
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Gly58Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Gly97Ser
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.His424Asn
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.His425Asn
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ile172Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Leu255Gln
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Leu292Pro
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Leu521Val
Uncertain significance
Single submitter
Inborn genetic diseases
- GUSB p.Leu565Val Uncertain significance Single submitter
-
GUSB p.Lys333Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Met77Arg
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
- GUSB p.Phe319Ser Uncertain significance Single submitter
-
GUSB p.Phe525Ser
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
- GUSB p.Phe83Leu Uncertain significance Single submitter
-
GUSB p.Pro178Ser
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Pro452Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Pro598Ala
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Pro598Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Pro80Ala
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ser125Arg
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ser384Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Ser5Leu
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ser638Pro
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ser648Arg
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ser82Asn
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Thr112Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Thr139Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Thr179Ile
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Thr185Pro
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Thr225Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Thr610Ile
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Trp375Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Trp446Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Trp90Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Tyr388Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Tyr461Phe
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Tyr626Cys
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Val444Met
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
- GUSB p.Val479Leu Uncertain significance Single submitter
- GUSB p.Val99Met Uncertain significance Single submitter
-
GUSB p.Phe418Cys
Uncertain significance
No assertion criteria
prostate cancer
Predictors split 94
The independent predictors disagree with each other — read with care.
-
GUSB p.Ala380Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Ala442Val
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Ala619Val
Pathogenic/Likely pathogenic
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Arg165Trp
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Arg357Gln
Uncertain significance
Multiple submitters
GUSB-related disorder
-
GUSB p.Arg577Cys
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Asn339Ser
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Asp405Asn
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
- GUSB p.Asp89Gly Uncertain significance Multiple submitters
-
GUSB p.Gly13Glu
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Pro178Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Pro364Leu
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Pro415Leu
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Pro475Thr
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Thr232Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Thr232Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Thr599Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Tyr291Asn
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Tyr299Cys
Uncertain significance
Multiple submitters
mucopolysaccharidosis type 7
-
GUSB p.Val132Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Val233Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Val581Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
GUSB p.Ala130Thr
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ala151Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Ala265Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Ala271Thr
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ala271Val
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ala298Val
Likely pathogenic
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ala2Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Ala354Val
Conflicting
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ala468Thr
Likely benign
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ala6Glu
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ala8Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Ala8Ser
Conflicting
Single submitter
Inborn genetic diseases
- GUSB p.Ala8Thr Uncertain significance Single submitter
-
GUSB p.Arg103Trp
Conflicting
Single submitter
non-immune hydrops fetalis
-
GUSB p.Arg261Gly
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg261His
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Arg398Cys
Conflicting
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg398His
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg3Trp
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg435Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Arg577Leu
Likely pathogenic
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg57Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Arg66Trp
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Arg93Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Asn173Ser
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Asn267Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Asn349Ser
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Asn379Ser
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Asn84Ser
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
- GUSB p.Asp152Gly Uncertain significance Single submitter
-
GUSB p.Asp42Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Gln568Arg
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Gln62Pro
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Gln88Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Glu143Asp
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Glu431Lys
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Gly411Asp
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
- GUSB p.Gly4Glu Uncertain significance Single submitter
- GUSB p.Gly572Asp Uncertain significance Single submitter
-
GUSB p.Ile186Leu
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ile629Met
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ile629Thr
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
- GUSB p.Leu12Pro Uncertain significance Single submitter
-
GUSB p.Leu166Phe
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Leu220Val
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Leu300Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Lys628Thr
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Met430Leu
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Met77Val
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Phe256Leu
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Phe319Leu
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Pro108Leu
Conflicting
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Pro323Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Pro67Leu
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Ser33Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Ser472Tyr
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Thr175Ala
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Thr222Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Thr232Ile
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Trp9Arg
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Tyr205Cys
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Tyr495Cys
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Tyr529Cys
Conflicting
Single submitter
non-immune hydrops fetalis
- GUSB p.Tyr64His Uncertain significance Single submitter
-
GUSB p.Val137Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
GUSB p.Val270Met
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Val324Met
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Val429Met
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Val434Met
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Val581Ala
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Val96Ile
Uncertain significance
Single submitter
mucopolysaccharidosis type 7
-
GUSB p.Thr177Ile
Pathogenic
No assertion criteria
mucopolysaccharidosis type 7
All GUSB variants
Pathogenic 47
- c.1244+1G>A Multiple submitters mucopolysaccharidosis type 7
- p.Asn486Ter Multiple submitters mucopolysaccharidosis type 7
- p.Ile170fs Multiple submitters mucopolysaccharidosis type 7
- p.Leu176Phe Multiple submitters mucopolysaccharidosis type 1
- p.Trp446Ter Multiple submitters mucopolysaccharidosis type 6
- p.Trp507Ter Multiple submitters mucopolysaccharidosis type 7
- p.Arg3fs Single submitter mucopolysaccharidosis type 7
- p.Arg600fs Single submitter mucopolysaccharidosis type 7
- p.Arg625fs Single submitter mucopolysaccharidosis type 7
- p.Asn349fs Single submitter mucopolysaccharidosis type 7
- p.Asn486fs Single submitter mucopolysaccharidosis type 7
- p.Asn54fs Single submitter mucopolysaccharidosis type 7
- p.Asn604fs Single submitter mucopolysaccharidosis type 7
- p.Asp230Ter Single submitter mucopolysaccharidosis type 7
- p.Cys407fs Single submitter mucopolysaccharidosis type 7
- p.Gln202Ter Single submitter mucopolysaccharidosis type 7
- p.Gln215Ter Single submitter mucopolysaccharidosis type 7
- p.Gln247Ter Single submitter mucopolysaccharidosis type 7
- p.Gln306Ter Single submitter mucopolysaccharidosis type 7
- p.Gln551Ter Single submitter mucopolysaccharidosis type 7
- p.Glu109Ter Single submitter mucopolysaccharidosis type 7
- p.Glu624fs Single submitter mucopolysaccharidosis type 7
- p.Gly145fs Single submitter mucopolysaccharidosis type 7
- p.Gly26fs Single submitter mucopolysaccharidosis type 7
- p.Gly4fs Single submitter mucopolysaccharidosis type 7
- p.Ile586fs Single submitter mucopolysaccharidosis type 7
- p.Leu107fs Single submitter mucopolysaccharidosis type 7
- p.Leu176fs Single submitter mucopolysaccharidosis type 7
- p.Leu622Ter Single submitter mucopolysaccharidosis type 7
- p.Met1Leu Single submitter
- p.Met27fs Single submitter mucopolysaccharidosis type 7
- p.Ser312fs Single submitter mucopolysaccharidosis type 7
- p.Ser35Ter Single submitter mucopolysaccharidosis type 7
- p.Trp289_Tyr291delinsTer Single submitter mucopolysaccharidosis type 7
- p.Trp289Ter Single submitter
- p.Trp528Ter Single submitter Inborn genetic diseases
- p.Trp627Ter Single submitter mucopolysaccharidosis type 7
- p.Trp98Ter Single submitter mucopolysaccharidosis type 7
- p.Trp9fs Single submitter mucopolysaccharidosis type 7
- p.Tyr532Ter Single submitter mucopolysaccharidosis type 7
- p.Tyr626fs Single submitter mucopolysaccharidosis type 7
- p.Tyr626His Single submitter mucopolysaccharidosis type 7
- p.Tyr64fs Single submitter mucopolysaccharidosis type 7
- c.1391+618_1391+619del No assertion criteria mucopolysaccharidosis type 7
- p.Lys350Asn No assertion criteria mucopolysaccharidosis type 7
- p.Pro148Ser No assertion criteria mucopolysaccharidosis type 7
- p.Thr177Ile No assertion criteria mucopolysaccharidosis type 7 ⚠
Pathogenic/Likely pathogenic 17
- c.1476_1476+13del Multiple submitters mucopolysaccharidosis type 7
- c.581+1G>A Multiple submitters GUSB-related disorder
- c.724+1G>T Multiple submitters mucopolysaccharidosis type 7
- p.Ala619Val Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Arg110Ter Multiple submitters mucopolysaccharidosis type 7
- p.Arg167Ter Multiple submitters mucopolysaccharidosis type 7
- p.Arg216Trp Multiple submitters mucopolysaccharidosis type 7
- p.Arg357Ter Multiple submitters non-immune hydrops fetalis
- p.Arg382Cys Multiple submitters non-immune hydrops fetalis
- p.Arg382His Multiple submitters mucopolysaccharidosis type 7
- p.Arg55Ter Multiple submitters mucopolysaccharidosis type 7
- p.Arg611Gln Multiple submitters mucopolysaccharidosis type 7
- p.Gln31Ter Multiple submitters mucopolysaccharidosis type 7
- p.Ser539= Multiple submitters mucopolysaccharidosis type 7
- p.Trp627Cys Multiple submitters GUSB-related disorder
- p.Tyr246Ter Multiple submitters mucopolysaccharidosis type 7
- p.Tyr541Ter Multiple submitters mucopolysaccharidosis type 7
Likely pathogenic 37
- c.1244+2del Single submitter mucopolysaccharidosis type 7
- c.1477-1G>C Single submitter mucopolysaccharidosis type 7
- c.1477-2A>G Single submitter mucopolysaccharidosis type 7
- c.1654-1G>A Single submitter mucopolysaccharidosis type 7
- c.1654-2A>G Single submitter mucopolysaccharidosis type 7
- c.211-1G>A Single submitter mucopolysaccharidosis type 7
- c.396+1G>A Single submitter mucopolysaccharidosis type 7
- c.396+1G>T Single submitter mucopolysaccharidosis type 7
- c.397-2A>G Single submitter mucopolysaccharidosis type 7
- c.560_581+13del Single submitter mucopolysaccharidosis type 7
- p.Ala20fs Single submitter mucopolysaccharidosis type 7
- p.Ala298Val Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg216Gln Single submitter mucopolysaccharidosis type 7
- p.Arg357Leu Single submitter mucopolysaccharidosis type 7
- p.Arg374Cys Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg436Lys Single submitter mucopolysaccharidosis type 7
- p.Arg577Leu Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asp490Gly Single submitter mucopolysaccharidosis type 7
- p.Glu102Lys Single submitter mucopolysaccharidosis type 7
- p.Glu150Lys Single submitter mucopolysaccharidosis type 7
- p.Glu584fs Single submitter mucopolysaccharidosis type 7
- p.Glu595fs Single submitter mucopolysaccharidosis type 7
- p.Gly136Arg Single submitter mucopolysaccharidosis type 7
- p.His351Tyr Single submitter mucopolysaccharidosis type 7
- p.His424Tyr Single submitter mucopolysaccharidosis type 7 ⚠
- p.His509fs Single submitter mucopolysaccharidosis type 7
- p.Met1Arg Single submitter mucopolysaccharidosis type 7
- p.Ser485Phe Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ser5fs Single submitter mucopolysaccharidosis type 7
- p.Trp111Ter Single submitter mucopolysaccharidosis type 7
- p.Trp133Ser Single submitter non-immune hydrops fetalis
- p.Trp63Cys Single submitter mucopolysaccharidosis type 7
- p.Trp69Ter Single submitter mucopolysaccharidosis type 7
- p.Tyr508Cys Single submitter mucopolysaccharidosis type 7
- p.Tyr626Ter Single submitter mucopolysaccharidosis type 7
- p.Arg36Leu No assertion criteria mucopolysaccharidosis type 7
- p.Asp362_Phe370del No assertion criteria mucopolysaccharidosis type 7
Conflicting classifications of pathogenicity 30
- c.1066-5C>T Single submitter Inborn genetic diseases
- c.1245-4G>A Single submitter mucopolysaccharidosis type 7
- c.1790-18dup Single submitter
- c.210+11G>C Single submitter mucopolysaccharidosis type 7
- c.211-8C>G Single submitter mucopolysaccharidosis type 7
- p.Ala330Ser Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ala354Val Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ala413Val Single submitter Inborn genetic diseases ⚠
- p.Ala442Thr Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ala8Ser Single submitter Inborn genetic diseases ⚠
- p.Arg103Trp Single submitter non-immune hydrops fetalis ⚠
- p.Arg398Cys Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg477Trp Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg57Leu Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg611Trp Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asp362Asn Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gln643Ter Single submitter mucopolysaccharidosis type 7
- p.Gly512Arg Single submitter ⚠
- p.Gly583Arg Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gly607Ala Single submitter mucopolysaccharidosis type 7 ⚠
- p.Leu15= Single submitter mucopolysaccharidosis type 7
- p.Leu414= Single submitter mucopolysaccharidosis type 7
- p.Lys350= Single submitter mucopolysaccharidosis type 7
- p.Lys471Thr Single submitter GUSB-related disorder ⚠
- p.Pro108= Single submitter mucopolysaccharidosis type 7
- p.Pro108Leu Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ser5Pro Single submitter mucopolysaccharidosis type 7 ⚠
- p.Tyr320Ser Single submitter mucopolysaccharidosis type 7 ⚠
- p.Tyr487= Single submitter mucopolysaccharidosis type 7
- p.Tyr529Cys Single submitter non-immune hydrops fetalis ⚠
Benign 19
- c.1065+27C>G Multiple submitters mucopolysaccharidosis type 7
- c.1653+151A>G Multiple submitters mucopolysaccharidosis type 7
- c.1790-5del Multiple submitters mucopolysaccharidosis type 7
- c.724+23TC[3] Multiple submitters mucopolysaccharidosis type 7
- c.-12G>A Multiple submitters mucopolysaccharidosis type 7
- c.*172A>G Multiple submitters mucopolysaccharidosis type 7
- p.Asn54= Multiple submitters mucopolysaccharidosis type 7
- p.Gln187= Multiple submitters mucopolysaccharidosis type 7
- p.Glu584= Multiple submitters mucopolysaccharidosis type 7
- p.Thr226= Multiple submitters mucopolysaccharidosis type 7
- p.Tyr580= Multiple submitters mucopolysaccharidosis type 7
- c.1391+25G>A Single submitter
- c.1476+13del Single submitter mucopolysaccharidosis type 7
- c.1476+13dup Single submitter mucopolysaccharidosis type 7
- c.1790-6_1790-5del Single submitter
- c.211-28G>A Single submitter
- c.397-20dup Single submitter mucopolysaccharidosis type 7
- c.*55C>T Single submitter mucopolysaccharidosis type 7
- p.Tyr211= Single submitter mucopolysaccharidosis type 7
Benign/Likely benign 7
- c.1245-15C>T Multiple submitters mucopolysaccharidosis type 7
- c.725-16C>T Multiple submitters mucopolysaccharidosis type 7
- p.Ala453= Multiple submitters mucopolysaccharidosis type 7
- p.Gly347= Multiple submitters mucopolysaccharidosis type 7
- p.Gly72= Multiple submitters mucopolysaccharidosis type 7
- p.Pro494= Multiple submitters mucopolysaccharidosis type 7
- p.Val443= Multiple submitters mucopolysaccharidosis type 7
Likely benign 346
Showing the top 300 by review status; the full set is in the sitemap.
- c.1066-3T>C Multiple submitters mucopolysaccharidosis type 7
- p.Asn450= Multiple submitters mucopolysaccharidosis type 7
- p.Cys19= Multiple submitters mucopolysaccharidosis type 7
- p.Glu632= Multiple submitters mucopolysaccharidosis type 7
- p.Gly18= Multiple submitters mucopolysaccharidosis type 7
- p.Gly340= Multiple submitters mucopolysaccharidosis type 7
- p.Pro290= Multiple submitters mucopolysaccharidosis type 7
- c.1065+11G>A Single submitter mucopolysaccharidosis type 7
- c.1065+18G>A Single submitter mucopolysaccharidosis type 7
- c.1066-11C>T Single submitter mucopolysaccharidosis type 7
- c.1066-16C>T Single submitter mucopolysaccharidosis type 7
- c.1066-20T>C Single submitter mucopolysaccharidosis type 7
- c.1066-4del Single submitter mucopolysaccharidosis type 7
- c.1066-5C>G Single submitter mucopolysaccharidosis type 7
- c.1066-6_1066-5del Single submitter mucopolysaccharidosis type 7
- c.1066-6T>C Single submitter mucopolysaccharidosis type 7
- c.1066-7C>A Single submitter mucopolysaccharidosis type 7
- c.1066-9A>G Single submitter mucopolysaccharidosis type 7
- c.1244+15T>C Single submitter mucopolysaccharidosis type 7
- c.1244+16G>A Single submitter mucopolysaccharidosis type 7
- c.1244+17C>T Single submitter mucopolysaccharidosis type 7
- c.1244+19C>T Single submitter mucopolysaccharidosis type 7
- c.1244+20C>G Single submitter mucopolysaccharidosis type 7
- c.1244+27G>A Single submitter
- c.1244+9_1244+10del Single submitter mucopolysaccharidosis type 7
- c.1245-11C>T Single submitter mucopolysaccharidosis type 7
- c.1245-13T>A Single submitter mucopolysaccharidosis type 7
- c.1245-14C>T Single submitter mucopolysaccharidosis type 7
- c.1245-19C>A Single submitter mucopolysaccharidosis type 7
- c.1245-19C>T Single submitter mucopolysaccharidosis type 7
- c.1245-23G>C Single submitter
- c.1245-5C>T Single submitter mucopolysaccharidosis type 7
- c.1245-6C>T Single submitter mucopolysaccharidosis type 7
- c.1245-8G>A Single submitter mucopolysaccharidosis type 7
- c.1391+11C>T Single submitter mucopolysaccharidosis type 7
- c.1391+12C>T Single submitter mucopolysaccharidosis type 7
- c.1391+13T>G Single submitter mucopolysaccharidosis type 7
- c.1391+14C>T Single submitter mucopolysaccharidosis type 7
- c.1391+17T>C Single submitter mucopolysaccharidosis type 7
- c.1391+18G>C Single submitter mucopolysaccharidosis type 7
- c.1391+19C>T Single submitter mucopolysaccharidosis type 7
- c.1392-12T>C Single submitter mucopolysaccharidosis type 7
- c.1392-14C>T Single submitter mucopolysaccharidosis type 7
- c.1392-18T>C Single submitter mucopolysaccharidosis type 7
- c.1476+10G>A Single submitter mucopolysaccharidosis type 7
- c.1476+13G>T Single submitter mucopolysaccharidosis type 7
- c.1476+15C>T Single submitter mucopolysaccharidosis type 7
- c.1476+16C>T Single submitter mucopolysaccharidosis type 7
- c.1476+18C>A Single submitter mucopolysaccharidosis type 7
- c.1476+18C>T Single submitter mucopolysaccharidosis type 7
- c.1476+20C>A Single submitter mucopolysaccharidosis type 7
- c.1476+20C>T Single submitter mucopolysaccharidosis type 7
- c.1477-16G>T Single submitter mucopolysaccharidosis type 7
- c.1477-18C>T Single submitter mucopolysaccharidosis type 7
- c.1477-5C>T Single submitter mucopolysaccharidosis type 7
- c.1477-9T>C Single submitter mucopolysaccharidosis type 7
- c.1653+15G>A Single submitter mucopolysaccharidosis type 7
- c.1653+17T>C Single submitter mucopolysaccharidosis type 7
- c.1653+20C>T Single submitter mucopolysaccharidosis type 7
- c.1653+9T>C Single submitter
- c.1654-10T>C Single submitter mucopolysaccharidosis type 7
- c.1654-10T>G Single submitter mucopolysaccharidosis type 7
- c.1654-11T>C Single submitter mucopolysaccharidosis type 7
- c.1654-12C>G Single submitter mucopolysaccharidosis type 7
- c.1654-12C>T Single submitter mucopolysaccharidosis type 7
- c.1654-13_1654-9del Single submitter mucopolysaccharidosis type 7
- c.1654-14G>A Single submitter mucopolysaccharidosis type 7
- c.1654-14G>T Single submitter mucopolysaccharidosis type 7
- c.1654-4C>T Single submitter mucopolysaccharidosis type 7
- c.1654-9G>A Single submitter mucopolysaccharidosis type 7
- c.1789+10A>C Single submitter mucopolysaccharidosis type 7
- c.1789+17C>T Single submitter mucopolysaccharidosis type 7
- c.1789+19C>T Single submitter mucopolysaccharidosis type 7
- c.1789+9C>T Single submitter mucopolysaccharidosis type 7
- c.1790-11T>C Single submitter mucopolysaccharidosis type 7
- c.1790-11T>G Single submitter mucopolysaccharidosis type 7
- c.1790-18T>C Single submitter mucopolysaccharidosis type 7
- c.1790-20T>A Single submitter mucopolysaccharidosis type 7
- c.1790-21_1790-20del Single submitter mucopolysaccharidosis type 7
- c.1790-4G>T Single submitter mucopolysaccharidosis type 7
- c.210+13G>A Single submitter mucopolysaccharidosis type 7
- c.210+16A>C Single submitter mucopolysaccharidosis type 7
- c.210+20C>T Single submitter mucopolysaccharidosis type 7
- c.210+8C>A Single submitter mucopolysaccharidosis type 7
- c.211-15C>T Single submitter mucopolysaccharidosis type 7
- c.211-16G>A Single submitter mucopolysaccharidosis type 7
- c.211-17G>A Single submitter mucopolysaccharidosis type 7
- c.211-17G>C Single submitter mucopolysaccharidosis type 7
- c.211-18C>G Single submitter mucopolysaccharidosis type 7
- c.211-18C>T Single submitter mucopolysaccharidosis type 7
- c.211-20C>G Single submitter mucopolysaccharidosis type 7
- c.211-20C>T Single submitter mucopolysaccharidosis type 7
- c.211-7T>C Single submitter mucopolysaccharidosis type 7
- c.396+13A>G Single submitter mucopolysaccharidosis type 7
- c.396+14G>A Single submitter mucopolysaccharidosis type 7
- c.396+15G>C Single submitter mucopolysaccharidosis type 7
- c.396+15G>T Single submitter mucopolysaccharidosis type 7
- c.396+17G>A Single submitter mucopolysaccharidosis type 7
- c.396+8C>T Single submitter mucopolysaccharidosis type 7
- c.396+9G>A Single submitter mucopolysaccharidosis type 7
- c.397-10G>A Single submitter mucopolysaccharidosis type 7
- c.397-10G>C Single submitter mucopolysaccharidosis type 7
- c.397-15C>T Single submitter mucopolysaccharidosis type 7
- c.397-19G>A Single submitter mucopolysaccharidosis type 7
- c.397-19G>T Single submitter mucopolysaccharidosis type 7
- c.397-9del Single submitter mucopolysaccharidosis type 7
- c.581+10A>G Single submitter mucopolysaccharidosis type 7
- c.581+12C>G Single submitter mucopolysaccharidosis type 7
- c.581+16C>G Single submitter mucopolysaccharidosis type 7
- c.581+16C>T Single submitter mucopolysaccharidosis type 7
- c.581+17C>T Single submitter mucopolysaccharidosis type 7
- c.581+20C>T Single submitter mucopolysaccharidosis type 7
- c.581+8C>G Single submitter mucopolysaccharidosis type 7
- c.581+8C>T Single submitter mucopolysaccharidosis type 7
- c.582-12C>G Single submitter mucopolysaccharidosis type 7
- c.582-12C>T Single submitter mucopolysaccharidosis type 7
- c.582-15G>A Single submitter mucopolysaccharidosis type 7
- c.582-17C>T Single submitter mucopolysaccharidosis type 7
- c.582-19C>G Single submitter mucopolysaccharidosis type 7
- c.582-20C>G Single submitter mucopolysaccharidosis type 7
- c.582-29C>G Single submitter
- c.582-6T>C Single submitter mucopolysaccharidosis type 7
- c.582-7A>C Single submitter mucopolysaccharidosis type 7
- c.582-9C>T Single submitter mucopolysaccharidosis type 7
- c.724+17G>C Single submitter mucopolysaccharidosis type 7
- c.724+18G>C Single submitter mucopolysaccharidosis type 7
- c.725-11G>A Single submitter mucopolysaccharidosis type 7
- c.725-12T>C Single submitter mucopolysaccharidosis type 7
- c.725-14C>A Single submitter mucopolysaccharidosis type 7
- c.725-18C>A Single submitter mucopolysaccharidosis type 7
- c.725-18C>G Single submitter mucopolysaccharidosis type 7
- c.725-18C>T Single submitter mucopolysaccharidosis type 7
- c.725-18CT[2] Single submitter mucopolysaccharidosis type 7
- c.725-4G>A Single submitter mucopolysaccharidosis type 7
- c.725-7C>G Single submitter mucopolysaccharidosis type 7
- c.725-8dup Single submitter mucopolysaccharidosis type 7
- c.912+15G>C Single submitter mucopolysaccharidosis type 7
- c.912+18C>G Single submitter mucopolysaccharidosis type 7
- c.912+19A>G Single submitter mucopolysaccharidosis type 7
- c.913-16G>A Single submitter mucopolysaccharidosis type 7
- c.913-17T>C Single submitter mucopolysaccharidosis type 7
- c.913-18G>C Single submitter mucopolysaccharidosis type 7
- c.913-5C>T Single submitter mucopolysaccharidosis type 7
- p.Ala10= Single submitter mucopolysaccharidosis type 7
- p.Ala130= Single submitter mucopolysaccharidosis type 7
- p.Ala151= Single submitter mucopolysaccharidosis type 7
- p.Ala2= Single submitter mucopolysaccharidosis type 7
- p.Ala20= Single submitter mucopolysaccharidosis type 7
- p.Ala271= Single submitter mucopolysaccharidosis type 7
- p.Ala298= Single submitter mucopolysaccharidosis type 7
- p.Ala309= Single submitter mucopolysaccharidosis type 7
- p.Ala354= Single submitter mucopolysaccharidosis type 7
- p.Ala378= Single submitter mucopolysaccharidosis type 7
- p.Ala389= Single submitter mucopolysaccharidosis type 7
- p.Ala413= Single submitter mucopolysaccharidosis type 7
- p.Ala442= Single submitter mucopolysaccharidosis type 7
- p.Ala468Thr Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ala49= Single submitter mucopolysaccharidosis type 7
- p.Ala590= Single submitter mucopolysaccharidosis type 7
- p.Ala6= Single submitter mucopolysaccharidosis type 7
- p.Ala618= Single submitter mucopolysaccharidosis type 7
- p.Ala619= Single submitter mucopolysaccharidosis type 7
- p.Ala8= Single submitter mucopolysaccharidosis type 7
- p.Arg103= Single submitter mucopolysaccharidosis type 7
- p.Arg122= Single submitter mucopolysaccharidosis type 7
- p.Arg167= Single submitter mucopolysaccharidosis type 7
- p.Arg3= Single submitter mucopolysaccharidosis type 7
- p.Arg374= Single submitter mucopolysaccharidosis type 7
- p.Arg477= Single submitter mucopolysaccharidosis type 7
- p.Arg57Gln Single submitter Inborn genetic diseases
- p.Asn254= Single submitter mucopolysaccharidosis type 7
- p.Asn379= Single submitter mucopolysaccharidosis type 7
- p.Asn502= Single submitter mucopolysaccharidosis type 7
- p.Asn527= Single submitter mucopolysaccharidosis type 7
- p.Asn84= Single submitter mucopolysaccharidosis type 7
- p.Asp114= Single submitter mucopolysaccharidosis type 7
- p.Asp138= Single submitter mucopolysaccharidosis type 7
- p.Asp152= Single submitter mucopolysaccharidosis type 7
- p.Asp207= Single submitter mucopolysaccharidosis type 7
- p.Asp264= Single submitter mucopolysaccharidosis type 7
- p.Asp318= Single submitter mucopolysaccharidosis type 7
- p.Asp405= Single submitter mucopolysaccharidosis type 7
- p.Asp490= Single submitter mucopolysaccharidosis type 7
- p.Asp510= Single submitter mucopolysaccharidosis type 7
- p.Cys38= Single submitter mucopolysaccharidosis type 7
- p.Gln31= Single submitter mucopolysaccharidosis type 7
- p.Gln394= Single submitter mucopolysaccharidosis type 7
- p.Gln562= Single submitter
- p.Gln568= Single submitter mucopolysaccharidosis type 7
- p.Gln643= Single submitter mucopolysaccharidosis type 7
- p.Glu102= Single submitter mucopolysaccharidosis type 7
- p.Glu143= Single submitter mucopolysaccharidosis type 7
- p.Glu150= Single submitter mucopolysaccharidosis type 7
- p.Glu352= Single submitter mucopolysaccharidosis type 7
- p.Glu37= Single submitter mucopolysaccharidosis type 7
- p.Glu40= Single submitter mucopolysaccharidosis type 7
- p.Glu595= Single submitter mucopolysaccharidosis type 7
- p.Glu60= Single submitter mucopolysaccharidosis type 7
- p.Glu646Gly Single submitter Inborn genetic diseases
- p.Gly136= Single submitter mucopolysaccharidosis type 7
- p.Gly160= Single submitter mucopolysaccharidosis type 7
- p.Gly184= Single submitter mucopolysaccharidosis type 7
- p.Gly213= Single submitter mucopolysaccharidosis type 7
- p.Gly22= Single submitter mucopolysaccharidosis type 7
- p.Gly25= Single submitter mucopolysaccharidosis type 7
- p.Gly26= Single submitter mucopolysaccharidosis type 7
- p.Gly284Ser Single submitter Inborn genetic diseases
- p.Gly314= Single submitter mucopolysaccharidosis type 7
- p.Gly4= Single submitter mucopolysaccharidosis type 7
- p.Gly409= Single submitter mucopolysaccharidosis type 7
- p.Gly43= Single submitter mucopolysaccharidosis type 7
- p.Gly512= Single submitter mucopolysaccharidosis type 7
- p.Gly548= Single submitter mucopolysaccharidosis type 7
- p.Gly603= Single submitter mucopolysaccharidosis type 7
- p.His294= Single submitter mucopolysaccharidosis type 7
- p.His346= Single submitter mucopolysaccharidosis type 7
- p.His425= Single submitter mucopolysaccharidosis type 7
- p.His426= Single submitter mucopolysaccharidosis type 7
- p.His440= Single submitter mucopolysaccharidosis type 7
- p.His509= Single submitter mucopolysaccharidosis type 7
- p.His637= Single submitter mucopolysaccharidosis type 7
- p.Ile131= Single submitter mucopolysaccharidosis type 7
- p.Ile170= Single submitter mucopolysaccharidosis type 7
- p.Ile228= Single submitter mucopolysaccharidosis type 7
- p.Ile248= Single submitter mucopolysaccharidosis type 7
- p.Ile404= Single submitter mucopolysaccharidosis type 7
- p.Ile467= Single submitter mucopolysaccharidosis type 7
- p.Leu12= Single submitter mucopolysaccharidosis type 7
- p.Leu140= Single submitter mucopolysaccharidosis type 7
- p.Leu156= Single submitter mucopolysaccharidosis type 7
- p.Leu16= Single submitter mucopolysaccharidosis type 7
- p.Leu162= Single submitter mucopolysaccharidosis type 7
- p.Leu219= Single submitter mucopolysaccharidosis type 7
- p.Leu220= Single submitter mucopolysaccharidosis type 7
- p.Leu243= Single submitter mucopolysaccharidosis type 7
- p.Leu255= Single submitter mucopolysaccharidosis type 7
- p.Leu287= Single submitter mucopolysaccharidosis type 7
- p.Leu303= Single submitter mucopolysaccharidosis type 7
- p.Leu313= Single submitter mucopolysaccharidosis type 7
- p.Leu322= Single submitter mucopolysaccharidosis type 7
- p.Leu366= Single submitter mucopolysaccharidosis type 7
- p.Leu372= Single submitter mucopolysaccharidosis type 7
- p.Leu373= Single submitter mucopolysaccharidosis type 7
- p.Leu473= Single submitter mucopolysaccharidosis type 7
- p.Leu519= Single submitter mucopolysaccharidosis type 7
- p.Leu555= Single submitter mucopolysaccharidosis type 7
- p.Leu602= Single submitter mucopolysaccharidosis type 7
- p.Leu649= Single submitter mucopolysaccharidosis type 7
- p.Leu649Pro Single submitter mucopolysaccharidosis type 7
- p.Leu68= Single submitter mucopolysaccharidosis type 7
- p.Lys341= Single submitter mucopolysaccharidosis type 7
- p.Lys359= Single submitter mucopolysaccharidosis type 7
- p.Lys39= Single submitter mucopolysaccharidosis type 7
- p.Lys534= Single submitter mucopolysaccharidosis type 7
- p.Phe149= Single submitter mucopolysaccharidosis type 7
- p.Phe208= Single submitter mucopolysaccharidosis type 7
- p.Phe256= Single submitter mucopolysaccharidosis type 7
- p.Phe361= Single submitter mucopolysaccharidosis type 7
- p.Phe381= Single submitter mucopolysaccharidosis type 7
- p.Phe47= Single submitter mucopolysaccharidosis type 7
- p.Phe59= Single submitter mucopolysaccharidosis type 7
- p.Pro14= Single submitter mucopolysaccharidosis type 7
- p.Pro148= Single submitter mucopolysaccharidosis type 7
- p.Pro161= Single submitter mucopolysaccharidosis type 7
- p.Pro163= Single submitter mucopolysaccharidosis type 7
- p.Pro30= Single submitter mucopolysaccharidosis type 7
- p.Pro315= Single submitter mucopolysaccharidosis type 7
- p.Pro34= Single submitter mucopolysaccharidosis type 7
- p.Pro342= Single submitter mucopolysaccharidosis type 7
- p.Pro364= Single submitter mucopolysaccharidosis type 7
- p.Pro387= Single submitter mucopolysaccharidosis type 7
- p.Pro408= Single submitter mucopolysaccharidosis type 7
- p.Pro441= Single submitter mucopolysaccharidosis type 7
- p.Pro452= Single submitter mucopolysaccharidosis type 7
- p.Pro475= Single submitter mucopolysaccharidosis type 7
- p.Pro535= Single submitter mucopolysaccharidosis type 7
- p.Pro598= Single submitter mucopolysaccharidosis type 7
- p.Pro67= Single submitter mucopolysaccharidosis type 7
- p.Pro80= Single submitter mucopolysaccharidosis type 7
- p.Ser128= Single submitter mucopolysaccharidosis type 7
- p.Ser154= Single submitter mucopolysaccharidosis type 7
- p.Ser164= Single submitter mucopolysaccharidosis type 7
- p.Ser236= Single submitter mucopolysaccharidosis type 7
- p.Ser302= Single submitter mucopolysaccharidosis type 7
- p.Ser33= Single submitter mucopolysaccharidosis type 7
- p.Ser334= Single submitter mucopolysaccharidosis type 7
- p.Ser35= Single submitter mucopolysaccharidosis type 7
- p.Ser447= Single submitter mucopolysaccharidosis type 7
- p.Ser458= Single submitter mucopolysaccharidosis type 7
- p.Ser46= Single submitter mucopolysaccharidosis type 7
- p.Ser472= Single submitter mucopolysaccharidosis type 7
- p.Ser485= Single submitter mucopolysaccharidosis type 7
- p.Ser5= Single submitter mucopolysaccharidosis type 7
- p.Ser503= Single submitter mucopolysaccharidosis type 7
- p.Ser506= Single submitter mucopolysaccharidosis type 7
- p.Ser597= Single submitter mucopolysaccharidosis type 7
- p.Ser617= Single submitter mucopolysaccharidosis type 7
- p.Ser642= Single submitter mucopolysaccharidosis type 7
- p.Thr139= Single submitter mucopolysaccharidosis type 7
- p.Thr175= Single submitter mucopolysaccharidosis type 7
Uncertain significance 217
- c.1391+5G>A Multiple submitters mucopolysaccharidosis type 7
- c.1391+5G>T Multiple submitters mucopolysaccharidosis type 7
- c.1476+3G>A Multiple submitters mucopolysaccharidosis type 7
- c.1790-2dup Multiple submitters mucopolysaccharidosis type 7
- c.-10A>T Multiple submitters mucopolysaccharidosis type 7
- p.Ala380Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala442Val Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Arg116His Multiple submitters Inborn genetic diseases ⚠
- p.Arg165Trp Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Arg327Cys Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Arg357Gln Multiple submitters GUSB-related disorder ⚠
- p.Arg577Cys Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Arg57Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asn254His Multiple submitters Inborn genetic diseases ⚠
- p.Asn339Ser Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Asp405Asn Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Asp53Asn Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Asp591Asn Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Asp89Gly Multiple submitters ⚠
- p.Gln306His Multiple submitters Inborn genetic diseases ⚠
- p.Gly13Glu Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.His127Arg Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.His509Gln Multiple submitters Inborn genetic diseases ⚠
- p.Lys606Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys628_Ile629insMet Multiple submitters GUSB-related disorder
- p.Phe51Ile Multiple submitters ⚠
- p.Pro178Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro364Leu Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Pro408Ser Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Pro415Leu Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Pro475Thr Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Ser128Phe Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Ser539Arg Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Thr232Ala Multiple submitters Inborn genetic diseases ⚠
- p.Thr232Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr599Met Multiple submitters Inborn genetic diseases ⚠
- p.Tyr195His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr205His Multiple submitters Inborn genetic diseases ⚠
- p.Tyr291Asn Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Tyr299Cys Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Val132Met Multiple submitters Inborn genetic diseases ⚠
- p.Val233Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val269Leu Multiple submitters mucopolysaccharidosis type 7 ⚠
- p.Val429Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val581Met Multiple submitters Inborn genetic diseases ⚠
- c.1065+3G>T Single submitter
- c.1065+4T>C Single submitter mucopolysaccharidosis type 7
- c.1245-4G>T Single submitter mucopolysaccharidosis type 7
- c.1654-3T>C Single submitter mucopolysaccharidosis type 7
- c.1654-7A>G Single submitter mucopolysaccharidosis type 7
- c.210+5G>A Single submitter mucopolysaccharidosis type 7
- c.210+5G>C Single submitter mucopolysaccharidosis type 7
- c.396+5G>T Single submitter mucopolysaccharidosis type 7
- c.581+9C>T Single submitter mucopolysaccharidosis type 7
- c.582-3T>G Single submitter mucopolysaccharidosis type 7
- c.-19G>C Single submitter mucopolysaccharidosis type 7
- c.-20C>T Single submitter mucopolysaccharidosis type 7
- c.*12A>G Single submitter mucopolysaccharidosis type 7
- c.*148A>G Single submitter mucopolysaccharidosis type 7
- c.*154G>A Single submitter mucopolysaccharidosis type 7
- c.*208T>C Single submitter mucopolysaccharidosis type 7
- c.*208T>G Single submitter mucopolysaccharidosis type 7
- c.*94A>G Single submitter mucopolysaccharidosis type 7
- p.Ala130Thr Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ala151Asp Single submitter Inborn genetic diseases ⚠
- p.Ala171Thr Single submitter ⚠
- p.Ala265Gly Single submitter Inborn genetic diseases ⚠
- p.Ala271Glu Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ala271Thr Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ala271Val Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ala2Val Single submitter Inborn genetic diseases ⚠
- p.Ala453Val Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ala6Glu Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ala8Asp Single submitter Inborn genetic diseases ⚠
- p.Ala8Thr Single submitter ⚠
- p.Arg118Gly Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg122Ser Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg261Gly Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg261His Single submitter Inborn genetic diseases ⚠
- p.Arg261Pro Single submitter Inborn genetic diseases ⚠
- p.Arg327His Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg327Leu Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg374His Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg398His Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg3Leu Single submitter ⚠
- p.Arg3Trp Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg435Cys Single submitter Inborn genetic diseases ⚠
- p.Arg477Gln Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg57Trp Single submitter Inborn genetic diseases ⚠
- p.Arg611Pro Single submitter ⚠
- p.Arg634Thr Single submitter Inborn genetic diseases ⚠
- p.Arg66Trp Single submitter mucopolysaccharidosis type 7 ⚠
- p.Arg93Trp Single submitter Inborn genetic diseases ⚠
- p.Asn155_Val159delinsMet Single submitter mucopolysaccharidosis type 7
- p.Asn155Lys Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asn155Thr Single submitter Inborn genetic diseases ⚠
- p.Asn173Ser Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asn267Ile Single submitter Inborn genetic diseases ⚠
- p.Asn272Thr Single submitter Inborn genetic diseases ⚠
- p.Asn349Ser Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asn379Asp Single submitter ⚠
- p.Asn379Ser Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asn379Tyr Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asn450Ser Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asn502Lys Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asn84Ser Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asp152Gly Single submitter ⚠
- p.Asp318Gly Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asp355= Single submitter mucopolysaccharidosis type 7
- p.Asp42Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp474Gly Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asp490Asn Single submitter mucopolysaccharidosis type 7 ⚠
- p.Asp50Tyr Single submitter ⚠
- p.Cys38Arg Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gln113Arg Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gln247Glu Single submitter Inborn genetic diseases ⚠
- p.Gln31Lys Single submitter Inborn genetic diseases ⚠
- p.Gln538His Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gln568Arg Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gln596fs Single submitter
- p.Gln612fs Single submitter mucopolysaccharidosis type 7
- p.Gln62Arg Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gln62Pro Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gln88Glu Single submitter Inborn genetic diseases ⚠
- p.Glu143Asp Single submitter mucopolysaccharidosis type 7 ⚠
- p.Glu150Asp Single submitter mucopolysaccharidosis type 7 ⚠
- p.Glu295Lys Single submitter mucopolysaccharidosis type 7 ⚠
- p.Glu390Gly Single submitter ⚠
- p.Glu40Lys Single submitter Inborn genetic diseases ⚠
- p.Glu431Lys Single submitter mucopolysaccharidosis type 7 ⚠
- p.Glu451Lys Single submitter Inborn genetic diseases ⚠
- p.Glu540Lys Single submitter ⚠
- p.Glu595Ala Single submitter Inborn genetic diseases ⚠
- p.Gly144Trp Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gly411Asp Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gly4Ala Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gly4Arg Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gly4Glu Single submitter ⚠
- p.Gly548Arg Single submitter Inborn genetic diseases ⚠
- p.Gly572Asp Single submitter ⚠
- p.Gly572Ser Single submitter mucopolysaccharidosis type 7 ⚠
- p.Gly58Val Single submitter Inborn genetic diseases ⚠
- p.Gly97Ser Single submitter mucopolysaccharidosis type 7 ⚠
- p.His424Asn Single submitter mucopolysaccharidosis type 7 ⚠
- p.His425Asn Single submitter mucopolysaccharidosis type 7 ⚠
- p.His637fs Single submitter
- p.Ile172Val Single submitter Inborn genetic diseases ⚠
- p.Ile186Leu Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ile629Met Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ile629Thr Single submitter mucopolysaccharidosis type 7 ⚠
- p.Leu12Pro Single submitter ⚠
- p.Leu166Phe Single submitter mucopolysaccharidosis type 7 ⚠
- p.Leu220Val Single submitter mucopolysaccharidosis type 7 ⚠
- p.Leu255Gln Single submitter mucopolysaccharidosis type 7 ⚠
- p.Leu292Pro Single submitter mucopolysaccharidosis type 7 ⚠
- p.Leu300Val Single submitter Inborn genetic diseases ⚠
- p.Leu521Val Single submitter Inborn genetic diseases ⚠
- p.Leu565Val Single submitter ⚠
- p.Lys333Arg Single submitter Inborn genetic diseases ⚠
- p.Lys563del Single submitter mucopolysaccharidosis type 7
- p.Lys628Thr Single submitter mucopolysaccharidosis type 7 ⚠
- p.Met430Leu Single submitter mucopolysaccharidosis type 7 ⚠
- p.Met77Arg Single submitter mucopolysaccharidosis type 7 ⚠
- p.Met77Val Single submitter mucopolysaccharidosis type 7 ⚠
- p.Phe256Leu Single submitter mucopolysaccharidosis type 7 ⚠
- p.Phe319Leu Single submitter mucopolysaccharidosis type 7 ⚠
- p.Phe319Ser Single submitter ⚠
- p.Phe525Ser Single submitter mucopolysaccharidosis type 7 ⚠
- p.Phe83Leu Single submitter ⚠
- p.Pro178Ser Single submitter mucopolysaccharidosis type 7 ⚠
- p.Pro323Leu Single submitter Inborn genetic diseases ⚠
- p.Pro452Leu Single submitter Inborn genetic diseases ⚠
- p.Pro598Ala Single submitter mucopolysaccharidosis type 7 ⚠
- p.Pro598Leu Single submitter Inborn genetic diseases ⚠
- p.Pro67Leu Single submitter mucopolysaccharidosis type 7 ⚠
- p.Pro80Ala Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ser125Arg Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ser33Asn Single submitter Inborn genetic diseases ⚠
- p.Ser384Asn Single submitter Inborn genetic diseases ⚠
- p.Ser472Tyr Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ser506_Asp510del Single submitter mucopolysaccharidosis type 7
- p.Ser5Leu Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ser638Pro Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ser648Arg Single submitter mucopolysaccharidosis type 7 ⚠
- p.Ser82Asn Single submitter mucopolysaccharidosis type 7 ⚠
- p.Thr112Ser Single submitter Inborn genetic diseases ⚠
- p.Thr117Gln Single submitter mucopolysaccharidosis type 7
- p.Thr139Met Single submitter Inborn genetic diseases ⚠
- p.Thr175Ala Single submitter mucopolysaccharidosis type 7 ⚠
- p.Thr177= Single submitter mucopolysaccharidosis type 7
- p.Thr179Ile Single submitter mucopolysaccharidosis type 7 ⚠
- p.Thr185Pro Single submitter mucopolysaccharidosis type 7 ⚠
- p.Thr222Met Single submitter Inborn genetic diseases ⚠
- p.Thr225Ser Single submitter Inborn genetic diseases ⚠
- p.Thr232Ile Single submitter mucopolysaccharidosis type 7 ⚠
- p.Thr610Ile Single submitter mucopolysaccharidosis type 7 ⚠
- p.Trp375Arg Single submitter Inborn genetic diseases ⚠
- p.Trp446Cys Single submitter Inborn genetic diseases ⚠
- p.Trp90Ser Single submitter Inborn genetic diseases ⚠
- p.Trp9Arg Single submitter mucopolysaccharidosis type 7 ⚠
- p.Tyr205Cys Single submitter mucopolysaccharidosis type 7 ⚠
- p.Tyr388Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr461Phe Single submitter mucopolysaccharidosis type 7 ⚠
- p.Tyr495Cys Single submitter mucopolysaccharidosis type 7 ⚠
- p.Tyr626Cys Single submitter mucopolysaccharidosis type 7 ⚠
- p.Tyr64His Single submitter ⚠
- p.Val137Phe Single submitter Inborn genetic diseases ⚠
- p.Val270Met Single submitter mucopolysaccharidosis type 7 ⚠
- p.Val324Met Single submitter mucopolysaccharidosis type 7 ⚠
- p.Val429Met Single submitter mucopolysaccharidosis type 7 ⚠
- p.Val434Met Single submitter mucopolysaccharidosis type 7 ⚠
- p.Val444Met Single submitter mucopolysaccharidosis type 7 ⚠
- p.Val479Leu Single submitter ⚠
- p.Val581Ala Single submitter mucopolysaccharidosis type 7 ⚠
- p.Val96Ile Single submitter mucopolysaccharidosis type 7 ⚠
- p.Val99Met Single submitter ⚠
- p.Phe418Cys No assertion criteria prostate cancer ⚠