MANBA — 814 ClinVar variants
All ClinVar germline MANBA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 221 flagged for review →
59 Pathogenic · 12 Pathogenic/Likely pathogenic · 34 Likely pathogenic · 27 Conflicting · 72 Benign · 16 Benign/Likely benign · 353 Likely benign · 241 Uncertain significance
Full MANBA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 221
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 agree, ClinVar conflicts 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
MANBA p.Arg160His
Conflicting
Single submitter
beta-mannosidosis
-
MANBA p.Arg182Gln
Conflicting
Single submitter
beta-mannosidosis
-
MANBA p.Arg388Trp
Conflicting
Single submitter
beta-mannosidosis
-
MANBA p.Arg638His
Conflicting
Single submitter
beta-mannosidosis
-
MANBA p.Arg641His
Conflicting
Single submitter
beta-mannosidosis
-
MANBA p.Arg734His
Conflicting
Single submitter
beta-mannosidosis
-
MANBA p.Phe188Val
Conflicting
Single submitter
beta-mannosidosis
-
MANBA p.Ser538Asn
Conflicting
Single submitter
beta-mannosidosis
-
MANBA p.Val305Ile
Conflicting
Single submitter
Inborn genetic diseases
-
MANBA p.Val771Phe
Conflicting
Single submitter
beta-mannosidosis
Predictors lean, ClinVar uncertain 155
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 155
-
MANBA p.Ala147Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Ala228Val
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Ala434Thr
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Ala825Thr
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Arg143Cys
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Arg273Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Arg550Gln
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Arg585Gln
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Arg585Leu
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Arg613His
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Arg613Leu
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Gln377His
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Glu234Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Glu643Lys
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Glu848Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Gly102Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Gly200Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.His468Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.His681Arg
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Ile140Val
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Ile329Met
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Ile333Val
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Ile358Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Ile478Met
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Ile878Thr
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Leu566Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Met303Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Met741Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Met846Leu
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Pro447Ser
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Pro561Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Pro784Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Ser506Asn
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Ser525Gly
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Ser576Thr
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Thr622Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Thr701Arg
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Thr736Ile
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Thr847Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Tyr217His
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Val103Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Val797Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Val824Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Ala461Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Ala517Val
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Arg143Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Arg206Lys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Arg366Pro
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Arg474Gln
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Arg474Trp
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Arg613Cys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Arg638Cys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Arg738Cys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Asn578His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Asn786Ser
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Asp136Glu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Asp414Asn
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Asp480Gly
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Asp530Gly
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Asp60Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Asp610Glu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Asp617Ala
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Asp818His
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Cys419Arg
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Gln162Glu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Gln397Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Gln648Lys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Gln94Lys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Glu459Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Glu459Val
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Glu491Lys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Glu635Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Glu635Gly
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Glu865Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Gly174Cys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Gly249Asp
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Gly312Ala
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Gly408Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Gly408Val
Uncertain significance
Single submitter
beta-mannosidosis
- MANBA p.Gly427Asp Uncertain significance Single submitter
-
MANBA p.Gly556Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Gly649Trp
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Gly744Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- MANBA p.His446Leu Uncertain significance Single submitter
-
MANBA p.His681Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.His723Tyr
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.His779Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.His788Leu
Uncertain significance
Single submitter
beta-mannosidosis
- MANBA p.His871Arg Uncertain significance Single submitter
-
MANBA p.Ile358Thr
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Ile451Lys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Ile469Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Ile537Asn
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Ile808Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Ile878Val
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Ile99Val
Uncertain significance
Single submitter
beta-mannosidosis
- MANBA p.Leu149Val Uncertain significance Single submitter
- MANBA p.Leu566Ser Uncertain significance Single submitter
-
MANBA p.Leu758Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Leu830Trp
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Leu854Ser
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Lys173Asn
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Lys226Glu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Lys272Arg
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Lys283Gln
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Lys317Thr
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Lys320Gln
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Lys353Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Lys353Glu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Lys616Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Lys616Glu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Lys801Gln
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Lys85Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Met416Arg
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Met652Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Phe839Cys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Pro169Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Pro197Arg
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Pro730Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Pro793Leu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Pro826Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Ser221Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Ser318Thr
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Ser579Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Ser579Gly
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Ser608Asn
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Ser712Leu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Ser715Leu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Ser726Cys
Uncertain significance
Single submitter
beta-mannosidosis
- MANBA p.Ser727Thr Uncertain significance Single submitter
-
MANBA p.Thr159Ala
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Thr260Ala
Uncertain significance
Single submitter
beta-mannosidosis
- MANBA p.Thr325Ile Uncertain significance Single submitter
-
MANBA p.Thr368Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Thr504Met
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Thr632Pro
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Thr651Met
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Thr717Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Thr852Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- MANBA p.Trp231Arg Uncertain significance Single submitter
-
MANBA p.Trp725Ser
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Tyr422Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Tyr477Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Tyr673Cys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Tyr80Cys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Val133Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Val178Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Val247Ile
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Val321Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- MANBA p.Val379Ile Uncertain significance Single submitter
Predictors split 56
The independent predictors disagree with each other — read with care.
-
MANBA p.Ala802Val
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Arg373Gln
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Arg641Cys
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Arg766Trp
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Asn179Ser
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Asp713Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Asp813Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Cys761Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Gly271Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Gly812Val
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.His177Arg
Likely benign
Multiple submitters
beta-mannosidosis
-
MANBA p.Ile116Thr
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Ser139Pro
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Ser336Phe
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Thr847Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
MANBA p.Tyr342Cys
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Tyr477Cys
Uncertain significance
Multiple submitters
beta-mannosidosis
-
MANBA p.Val828Ile
Benign/Likely benign
Multiple submitters
beta-mannosidosis
- MANBA p.Ala654Val Uncertain significance Single submitter
-
MANBA p.Ala684Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Arg373Trp
Conflicting
Single submitter
beta-mannosidosis
-
MANBA p.Arg500Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Arg500His
Conflicting
Single submitter
MANBA-related disorder
-
MANBA p.Arg639Cys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Arg639His
Uncertain significance
Single submitter
beta-mannosidosis
- MANBA p.Arg71Thr Uncertain significance Single submitter
-
MANBA p.Arg734Pro
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Arg851Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- MANBA p.Asn356Asp Uncertain significance Single submitter
-
MANBA p.Asn385Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Asn465Ser
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Asn786Asp
Conflicting
Single submitter
beta-mannosidosis
-
MANBA p.Asp610Ala
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Asp877Gly
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Cys629Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Lys82Glu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Lys95Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Phe551Leu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Pro256Arg
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Ser237Pro
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Ser243Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Ser318Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Ser570Leu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Ser727Phe
Conflicting
Single submitter
beta-mannosidosis
-
MANBA p.Ser81Asn
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Thr325Ala
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Thr508Ala
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Thr565Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Thr765Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- MANBA p.Trp518Cys Uncertain significance Single submitter
-
MANBA p.Trp560Leu
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Tyr224Cys
Uncertain significance
Single submitter
beta-mannosidosis
-
MANBA p.Val326Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Val707Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
MANBA p.Val731Met
Conflicting
Single submitter
beta-mannosidosis
-
MANBA p.Pro730Arg
Likely benign
No assertion criteria
intellectual disability
All MANBA variants
Pathogenic 59
- c.2158-2A>G Multiple submitters beta-mannosidosis
- p.Arg125= Multiple submitters beta-mannosidosis
- p.Asn578fs Multiple submitters beta-mannosidosis
- p.Asp191_Trp192insTer Multiple submitters beta-mannosidosis
- p.Trp466Ter Multiple submitters beta-mannosidosis
- p.Tyr485fs Multiple submitters MANBA-related disorder
- c.1317+1G>C Single submitter beta-mannosidosis
- c.1317+2T>A Single submitter beta-mannosidosis
- p.Ala549fs Single submitter beta-mannosidosis
- p.Ala777fs Single submitter beta-mannosidosis
- p.Arg366Ter Single submitter beta-mannosidosis
- p.Arg550fs Single submitter beta-mannosidosis
- p.Arg613fs Single submitter beta-mannosidosis
- p.Arg721Ter Single submitter beta-mannosidosis
- p.Asn216delinsArgGluGluProArgTrpProAsnArgAsnSerSerGlyLeuGlnLeuProAlaTer Single submitter beta-mannosidosis
- p.Asn385fs Single submitter beta-mannosidosis
- p.Asn686fs Single submitter beta-mannosidosis
- p.Asp129fs Single submitter beta-mannosidosis
- p.Asp778fs Single submitter beta-mannosidosis
- p.Cys748Ter Single submitter beta-mannosidosis
- p.Gln250Ter Single submitter beta-mannosidosis
- p.Gln261fs Single submitter beta-mannosidosis
- p.Gln261Ter Single submitter beta-mannosidosis
- p.Gln262Ter Single submitter beta-mannosidosis
- p.Gln521Ter Single submitter beta-mannosidosis
- p.Glu491fs Single submitter beta-mannosidosis
- p.Glu512Ter Single submitter beta-mannosidosis
- p.Ile201fs Single submitter beta-mannosidosis
- p.Ile274fs Single submitter beta-mannosidosis
- p.Leu691fs Single submitter beta-mannosidosis
- p.Lys183Ter Single submitter beta-mannosidosis
- p.Lys226fs Single submitter beta-mannosidosis
- p.Phe702fs Single submitter beta-mannosidosis
- p.Ser107Ter Single submitter beta-mannosidosis
- p.Ser340fs Single submitter beta-mannosidosis
- p.Ser570fs Single submitter beta-mannosidosis
- p.Ser582fs Single submitter beta-mannosidosis
- p.Thr368fs Single submitter beta-mannosidosis
- p.Thr386fs Single submitter beta-mannosidosis
- p.Thr701delinsMetTer Single submitter beta-mannosidosis
- p.Trp290Ter Single submitter beta-mannosidosis
- p.Trp291Ter Single submitter beta-mannosidosis
- p.Trp390Ter Single submitter beta-mannosidosis
- p.Trp412fs Single submitter beta-mannosidosis
- p.Trp412Ter Single submitter beta-mannosidosis
- p.Trp518Ter Single submitter beta-mannosidosis
- p.Trp543Ter Single submitter beta-mannosidosis
- p.Trp575Ter Single submitter beta-mannosidosis
- p.Trp677Ter Single submitter beta-mannosidosis
- p.Trp93Ter Single submitter beta-mannosidosis
- p.Tyr217Ter Single submitter beta-mannosidosis
- p.Tyr438fs Single submitter beta-mannosidosis
- p.Tyr527Ter Single submitter beta-mannosidosis
- p.Val493delinsGlyGlnSerThrSerArgThrMetTer Single submitter beta-mannosidosis
- c.1486-2A>G No assertion criteria
- c.1705-1G>A No assertion criteria beta-mannosidosis
- p.Gln426Ter No assertion criteria beta-mannosidosis
- p.Glu83Ter No assertion criteria beta-mannosidosis
- p.Ser505Pro No assertion criteria beta-mannosidosis
Pathogenic/Likely pathogenic 12
- c.960+1G>A Multiple submitters beta-mannosidosis
- p.Arg182Trp Multiple submitters beta-mannosidosis
- p.Arg550Ter Multiple submitters beta-mannosidosis
- p.Arg585Ter Multiple submitters MANBA-related disorder
- p.Leu306fs Multiple submitters beta-mannosidosis
- p.Lys479fs Multiple submitters beta-mannosidosis
- p.Ser244Ter Multiple submitters beta-mannosidosis
- p.Ser505fs Multiple submitters beta-mannosidosis
- p.Ser726fs Multiple submitters beta-mannosidosis
- p.Trp231Ter Multiple submitters beta-mannosidosis
- p.Trp541Ter Multiple submitters beta-mannosidosis
- p.Val514fs Multiple submitters MANBA-related disorder
Likely pathogenic 34
- c.1112+1G>T Multiple submitters beta-mannosidosis
- c.1231-1G>A Multiple submitters beta-mannosidosis
- c.1704+1G>T Multiple submitters beta-mannosidosis
- c.273-1G>A Multiple submitters beta-mannosidosis
- c.378+1G>A Multiple submitters beta-mannosidosis
- c.549+1G>A Multiple submitters beta-mannosidosis
- c.550-1G>A Multiple submitters beta-mannosidosis
- c.673+1G>A Multiple submitters beta-mannosidosis
- p.Arg71delinsLeuTer Multiple submitters beta-mannosidosis
- c.1231-1G>C Single submitter beta-mannosidosis
- c.1705-2A>G Single submitter beta-mannosidosis
- c.178-2A>G Single submitter beta-mannosidosis
- c.2015-1G>A Single submitter beta-mannosidosis
- c.272+2T>C Single submitter beta-mannosidosis
- c.378+2T>C Single submitter beta-mannosidosis
- c.379-1G>A Single submitter beta-mannosidosis
- c.379-2A>G Single submitter
- c.674-1G>C Single submitter beta-mannosidosis
- c.674-2A>G Single submitter beta-mannosidosis
- c.850-1G>T Single submitter beta-mannosidosis
- c.961-2A>C Single submitter beta-mannosidosis
- p.Asn284fs Single submitter beta-mannosidosis
- p.Cys186Ter Single submitter MANBA-related disorder
- p.Cys404fs Single submitter MANBA-related disorder
- p.Cys629fs Single submitter MANBA-related disorder
- p.Gln623Ter Single submitter beta-mannosidosis
- p.Gln664Ter Single submitter beta-mannosidosis
- p.Gln685Ter Single submitter beta-mannosidosis
- p.Glu672Ter Single submitter beta-mannosidosis
- p.Ile329fs Single submitter MANBA-related disorder
- p.Pro784fs Single submitter beta-mannosidosis
- p.Ser355Ter Single submitter beta-mannosidosis
- p.Thr785fs Single submitter beta-mannosidosis
- p.Tyr401Cys Single submitter beta-mannosidosis
Conflicting classifications of pathogenicity 27
- c.1112+8A>C Single submitter beta-mannosidosis
- c.1317+14C>A Single submitter beta-mannosidosis
- c.1318-1G>T Single submitter beta-mannosidosis
- c.*8T>G Single submitter beta-mannosidosis
- p.Arg160His Single submitter beta-mannosidosis ⚠
- p.Arg182Gln Single submitter beta-mannosidosis ⚠
- p.Arg373Trp Single submitter beta-mannosidosis ⚠
- p.Arg388Trp Single submitter beta-mannosidosis ⚠
- p.Arg500His Single submitter MANBA-related disorder ⚠
- p.Arg638His Single submitter beta-mannosidosis ⚠
- p.Arg641His Single submitter beta-mannosidosis ⚠
- p.Arg734His Single submitter beta-mannosidosis ⚠
- p.Asn786= Single submitter beta-mannosidosis
- p.Asn786Asp Single submitter beta-mannosidosis ⚠
- p.Glu236= Single submitter beta-mannosidosis
- p.His177= Single submitter beta-mannosidosis
- p.Leu757= Single submitter beta-mannosidosis
- p.Phe188Val Single submitter beta-mannosidosis ⚠
- p.Ser37= Single submitter beta-mannosidosis
- p.Ser538Asn Single submitter beta-mannosidosis ⚠
- p.Ser582= Single submitter beta-mannosidosis
- p.Ser727Phe Single submitter beta-mannosidosis ⚠
- p.Tyr705= Single submitter beta-mannosidosis
- p.Val305Ile Single submitter Inborn genetic diseases ⚠
- p.Val321Phe Single submitter Inborn genetic diseases
- p.Val731Met Single submitter beta-mannosidosis ⚠
- p.Val771Phe Single submitter beta-mannosidosis ⚠
Benign 72
- c.1112+126C>T Multiple submitters
- c.1112+138C>T Multiple submitters
- c.1112+158A>G Multiple submitters
- c.1113-97T>C Multiple submitters
- c.1317+106T>A Multiple submitters
- c.1317+107G>T Multiple submitters
- c.1317+71G>C Multiple submitters
- c.1318-968G>A Multiple submitters
- c.1705-13C>A Multiple submitters beta-mannosidosis
- c.177+183G>A Multiple submitters
- c.2014+125T>A Multiple submitters
- c.2015-147C>G Multiple submitters
- c.2015-28G>A Multiple submitters beta-mannosidosis
- c.2015-55G>A Multiple submitters
- c.2015-87C>T Multiple submitters
- c.2158-114A>G Multiple submitters
- c.2416-105G>A Multiple submitters
- c.2416-10del Multiple submitters beta-mannosidosis
- c.674-115A>G Multiple submitters
- c.674-209C>T Multiple submitters
- c.674-41AT[6] Multiple submitters
- c.674-41AT[8] Multiple submitters
- c.674-90C>A Multiple submitters
- c.849+13A>C Multiple submitters beta-mannosidosis
- c.850-31T>C Multiple submitters
- c.961-62T>A Multiple submitters
- c.*124T>C Multiple submitters beta-mannosidosis
- c.*161C>T Multiple submitters beta-mannosidosis
- c.*317A>G Multiple submitters beta-mannosidosis
- c.*356G>A Multiple submitters beta-mannosidosis
- c.*384C>T Multiple submitters beta-mannosidosis
- c.*401G>A Multiple submitters beta-mannosidosis
- c.*505G>A Multiple submitters beta-mannosidosis
- p.Leu277= Multiple submitters beta-mannosidosis
- p.Leu790= Multiple submitters beta-mannosidosis
- p.Thr105= Multiple submitters beta-mannosidosis
- p.Thr701Met Multiple submitters beta-mannosidosis
- c.1113-77_1113-76dup Single submitter
- c.1230+164_1230+165insAG Single submitter
- c.1318-13del Single submitter beta-mannosidosis
- c.1485+16del Single submitter beta-mannosidosis
- c.1485+23G>A Single submitter
- c.1704+202C>T Single submitter
- c.1869+267= Single submitter
- c.2015-299T>A Single submitter
- c.2157+161A>G Single submitter
- c.2158-166dup Single submitter
- c.2158-260C>G Single submitter
- c.2415+124C>T Single submitter
- c.2415+142C>G Single submitter
- c.2415+269A>G Single submitter
- c.2415+299del Single submitter
- c.2415+326G>C Single submitter
- c.2416-11_2416-10del Single submitter beta-mannosidosis
- c.2416-227C>T Single submitter
- c.272+103TGTTT[5] Single submitter
- c.272+185T>C Single submitter
- c.272+61G>T Single submitter
- c.273-3dup Single submitter beta-mannosidosis
- c.378+32del Single submitter
- c.673+255G>T Single submitter
- c.849+220T>A Single submitter
- c.960+186CA[3] Single submitter
- c.960+186CA[4] Single submitter
- c.960+194C>T Single submitter
- c.960+213A>T Single submitter
- c.960+213del Single submitter
- c.960+214_960+215insA Single submitter
- c.960+223_960+225del Single submitter
- c.960+225del Single submitter
- c.961-301G>A Single submitter
- p.Ala825Ser Single submitter beta-mannosidosis
Benign/Likely benign 16
- c.1485+9T>C Multiple submitters beta-mannosidosis
- c.1704+10C>T Multiple submitters beta-mannosidosis
- c.1705-13C>T Multiple submitters beta-mannosidosis
- c.178-8A>G Multiple submitters beta-mannosidosis
- c.2014+14C>T Multiple submitters beta-mannosidosis
- c.2415+19G>A Multiple submitters beta-mannosidosis
- c.2416-20dup Multiple submitters beta-mannosidosis
- c.273-3del Multiple submitters beta-mannosidosis
- c.674-41AT[10] Multiple submitters
- p.Ala418= Multiple submitters beta-mannosidosis
- p.Leu749His Multiple submitters beta-mannosidosis
- p.Pro784Arg Multiple submitters beta-mannosidosis
- p.Ser712= Multiple submitters beta-mannosidosis
- p.Thr504= Multiple submitters beta-mannosidosis
- p.Val253Ile Multiple submitters beta-mannosidosis
- p.Val828Ile Multiple submitters beta-mannosidosis ⚠
Likely benign 353
Showing the top 300 by review status; the full set is in the sitemap.
- c.1230+144A>T Multiple submitters
- c.1230+153G>A Multiple submitters
- c.1231-58T>C Multiple submitters
- c.1485+18A>G Multiple submitters beta-mannosidosis
- c.1485+9T>A Multiple submitters beta-mannosidosis
- c.1870-92A>G Multiple submitters
- c.2014+53G>C Multiple submitters
- c.2014+69A>G Multiple submitters
- c.2014+75C>T Multiple submitters
- c.2415+18C>T Multiple submitters beta-mannosidosis
- c.273-62A>G Multiple submitters
- c.674-16T>C Multiple submitters beta-mannosidosis
- c.960+108A>T Multiple submitters
- p.Ala434= Multiple submitters beta-mannosidosis
- p.Ala437= Multiple submitters beta-mannosidosis
- p.Ala461= Multiple submitters beta-mannosidosis
- p.Ala802= Multiple submitters beta-mannosidosis
- p.Arg160Cys Multiple submitters beta-mannosidosis
- p.Gln648= Multiple submitters beta-mannosidosis
- p.Glu184= Multiple submitters beta-mannosidosis
- p.Glu865= Multiple submitters beta-mannosidosis
- p.His177Arg Multiple submitters beta-mannosidosis ⚠
- p.His588= Multiple submitters beta-mannosidosis
- p.Leu258= Multiple submitters beta-mannosidosis
- p.Leu376= Multiple submitters beta-mannosidosis
- p.Pro793= Multiple submitters beta-mannosidosis
- p.Ser715= Multiple submitters beta-mannosidosis
- p.Ser726= Multiple submitters beta-mannosidosis
- p.Val103= Multiple submitters beta-mannosidosis
- c.1112+10T>C Single submitter beta-mannosidosis
- c.1112+13C>T Single submitter beta-mannosidosis
- c.1112+17C>A Single submitter beta-mannosidosis
- c.1112+9T>C Single submitter beta-mannosidosis
- c.1113-12T>C Single submitter beta-mannosidosis
- c.1113-17T>C Single submitter beta-mannosidosis
- c.1113-46dup Single submitter
- c.1113-6C>T Single submitter beta-mannosidosis
- c.1230+13T>C Single submitter beta-mannosidosis
- c.1230+14A>G Single submitter beta-mannosidosis
- c.1230+15G>A Single submitter beta-mannosidosis
- c.1230+17A>G Single submitter beta-mannosidosis
- c.1230+9T>A Single submitter beta-mannosidosis
- c.1231-14A>G Single submitter beta-mannosidosis
- c.1231-16_1231-15del Single submitter beta-mannosidosis
- c.1231-16T>G Single submitter beta-mannosidosis
- c.1231-20C>G Single submitter beta-mannosidosis
- c.1231-284C>T Single submitter
- c.1231-6T>G Single submitter beta-mannosidosis
- c.1317+12C>A Single submitter beta-mannosidosis
- c.1317+17C>T Single submitter beta-mannosidosis
- c.1318-12C>T Single submitter
- c.1318-13T>C Single submitter beta-mannosidosis
- c.1318-19_1318-18del Single submitter beta-mannosidosis
- c.1318-9A>C Single submitter beta-mannosidosis
- c.1485+212G>C Single submitter
- c.1486-13T>C Single submitter beta-mannosidosis
- c.1486-15T>C Single submitter beta-mannosidosis
- c.1704+11G>A Single submitter beta-mannosidosis
- c.1704+12T>A Single submitter beta-mannosidosis
- c.1704+14T>A Single submitter beta-mannosidosis
- c.1704+16A>G Single submitter beta-mannosidosis
- c.1705-14T>C Single submitter beta-mannosidosis
- c.1705-17T>C Single submitter beta-mannosidosis
- c.177+14C>A Single submitter beta-mannosidosis
- c.177+19C>G Single submitter beta-mannosidosis
- c.177+20C>T Single submitter beta-mannosidosis
- c.177+7C>G Single submitter beta-mannosidosis
- c.178-10G>A Single submitter beta-mannosidosis
- c.178-11T>C Single submitter beta-mannosidosis
- c.178-12T>C Single submitter beta-mannosidosis
- c.178-15A>G Single submitter beta-mannosidosis
- c.178-207G>A Single submitter
- c.1869+16T>G Single submitter beta-mannosidosis
- c.1869+17C>A Single submitter beta-mannosidosis
- c.1869+20G>A Single submitter beta-mannosidosis
- c.1869+8G>A Single submitter beta-mannosidosis
- c.1870-10C>T Single submitter beta-mannosidosis
- c.1870-14T>C Single submitter beta-mannosidosis
- c.1870-16T>C Single submitter beta-mannosidosis
- c.1870-5A>T Single submitter beta-mannosidosis
- c.2014+15G>A Single submitter beta-mannosidosis
- c.2014+169G>A Single submitter
- c.2014+8T>C Single submitter beta-mannosidosis
- c.2015-11del Single submitter beta-mannosidosis
- c.2015-12G>T Single submitter beta-mannosidosis
- c.2015-16T>G Single submitter beta-mannosidosis
- c.2015-21G>C Single submitter
- c.2015-234T>A Single submitter
- c.2015-7T>C Single submitter beta-mannosidosis
- c.2157+12G>A Single submitter beta-mannosidosis
- c.2157+17G>C Single submitter beta-mannosidosis
- c.2157+19T>A Single submitter beta-mannosidosis
- c.2157+8A>G Single submitter beta-mannosidosis
- c.2157+9C>T Single submitter beta-mannosidosis
- c.2158-10T>G Single submitter beta-mannosidosis
- c.2158-11T>C Single submitter beta-mannosidosis
- c.2158-14T>G Single submitter beta-mannosidosis
- c.2158-17G>A Single submitter beta-mannosidosis
- c.2158-4C>T Single submitter
- c.2158-5C>T Single submitter beta-mannosidosis
- c.2158-6C>G Single submitter beta-mannosidosis
- c.2158-6C>T Single submitter beta-mannosidosis
- c.2158-7T>A Single submitter beta-mannosidosis
- c.2158-8C>T Single submitter beta-mannosidosis
- c.2158-9T>A Single submitter beta-mannosidosis
- c.2415+11_2415+17dup Single submitter beta-mannosidosis
- c.2415+11G>A Single submitter beta-mannosidosis
- c.2415+14A>T Single submitter beta-mannosidosis
- c.2415+15T>C Single submitter beta-mannosidosis
- c.2416-1091G>A Single submitter
- c.2416-1114A>G Single submitter
- c.2416-19T>C Single submitter beta-mannosidosis
- c.2416-22_2416-18del Single submitter beta-mannosidosis
- c.2416-4T>C Single submitter beta-mannosidosis
- c.2416-9C>T Single submitter beta-mannosidosis
- c.2416-9del Single submitter beta-mannosidosis
- c.272+13G>A Single submitter beta-mannosidosis
- c.272+15G>T Single submitter beta-mannosidosis
- c.272+16G>C Single submitter beta-mannosidosis
- c.272+17G>A Single submitter beta-mannosidosis
- c.272+17G>T Single submitter beta-mannosidosis
- c.272+7A>G Single submitter beta-mannosidosis
- c.272+85dup Single submitter
- c.273-10T>C Single submitter beta-mannosidosis
- c.273-11_273-7del Single submitter beta-mannosidosis
- c.273-11C>G Single submitter beta-mannosidosis
- c.273-7T>A Single submitter beta-mannosidosis
- c.273-9T>C Single submitter beta-mannosidosis
- c.378+14G>A Single submitter beta-mannosidosis
- c.378+15A>C Single submitter beta-mannosidosis
- c.378+15A>G Single submitter beta-mannosidosis
- c.378+16C>T Single submitter beta-mannosidosis
- c.378+17A>G Single submitter beta-mannosidosis
- c.378+19T>C Single submitter beta-mannosidosis
- c.378+32dup Single submitter
- c.378+7A>T Single submitter beta-mannosidosis
- c.378+9A>G Single submitter beta-mannosidosis
- c.379-14T>C Single submitter beta-mannosidosis
- c.379-16G>T Single submitter beta-mannosidosis
- c.379-5C>T Single submitter
- c.549+18A>G Single submitter beta-mannosidosis
- c.549+20G>A Single submitter beta-mannosidosis
- c.549+240G>A Single submitter
- c.549+5T>C Single submitter
- c.549+7G>A Single submitter beta-mannosidosis
- c.549+7G>T Single submitter beta-mannosidosis
- c.549+8T>C Single submitter beta-mannosidosis
- c.550-249T>C Single submitter
- c.550-6T>C Single submitter beta-mannosidosis
- c.673+12G>A Single submitter beta-mannosidosis
- c.673+14T>C Single submitter
- c.673+14T>G Single submitter beta-mannosidosis
- c.673+17G>A Single submitter beta-mannosidosis
- c.673+18A>G Single submitter beta-mannosidosis
- c.673+19T>C Single submitter beta-mannosidosis
- c.674-17T>C Single submitter beta-mannosidosis
- c.674-6T>A Single submitter beta-mannosidosis
- c.674-7A>G Single submitter beta-mannosidosis
- c.674-9A>G Single submitter beta-mannosidosis
- c.849+13del Single submitter beta-mannosidosis
- c.849+8A>G Single submitter beta-mannosidosis
- c.850-10T>C Single submitter beta-mannosidosis
- c.850-18T>G Single submitter beta-mannosidosis
- c.850-19T>C Single submitter beta-mannosidosis
- c.850-267A>G Single submitter
- c.850-5A>T Single submitter beta-mannosidosis
- c.960+14T>A Single submitter beta-mannosidosis
- c.960+192_960+197del Single submitter
- c.960+192C>T Single submitter
- c.960+195AT[11] Single submitter
- c.960+19A>C Single submitter beta-mannosidosis
- c.960+9G>A Single submitter beta-mannosidosis
- c.961-16A>C Single submitter beta-mannosidosis
- c.961-256A>G Single submitter
- c.961-50T>C Single submitter
- c.-58G>A Single submitter beta-mannosidosis
- c.*437A>T Single submitter beta-mannosidosis
- c.*521G>A Single submitter beta-mannosidosis
- p.Ala147= Single submitter beta-mannosidosis
- p.Ala18= Single submitter beta-mannosidosis
- p.Ala254= Single submitter beta-mannosidosis
- p.Ala515= Single submitter beta-mannosidosis
- p.Ala517= Single submitter beta-mannosidosis
- p.Ala627= Single submitter beta-mannosidosis
- p.Ala654= Single submitter beta-mannosidosis
- p.Ala796= Single submitter beta-mannosidosis
- p.Ala806= Single submitter beta-mannosidosis
- p.Arg160= Single submitter beta-mannosidosis
- p.Arg366= Single submitter beta-mannosidosis
- p.Arg373= Single submitter beta-mannosidosis
- p.Arg388= Single submitter beta-mannosidosis
- p.Arg613= Single submitter beta-mannosidosis
- p.Arg639= Single submitter beta-mannosidosis
- p.Arg766= Single submitter beta-mannosidosis
- p.Arg851= Single submitter beta-mannosidosis
- p.Asn124= Single submitter beta-mannosidosis
- p.Asn132= Single submitter beta-mannosidosis
- p.Asn138= Single submitter beta-mannosidosis
- p.Asn297= Single submitter beta-mannosidosis
- p.Asn383= Single submitter beta-mannosidosis
- p.Asn465= Single submitter beta-mannosidosis
- p.Asn524= Single submitter beta-mannosidosis
- p.Asn578= Single submitter beta-mannosidosis
- p.Asn700= Single submitter beta-mannosidosis
- p.Asn842= Single submitter beta-mannosidosis
- p.Asn864= Single submitter beta-mannosidosis
- p.Asp120= Single submitter beta-mannosidosis
- p.Asp136= Single submitter beta-mannosidosis
- p.Asp310= Single submitter beta-mannosidosis
- p.Asp381= Single submitter beta-mannosidosis
- p.Asp535= Single submitter beta-mannosidosis
- p.Asp617= Single submitter beta-mannosidosis
- p.Asp778= Single submitter beta-mannosidosis
- p.Cys419= Single submitter beta-mannosidosis
- p.Cys629= Single submitter
- p.Cys748= Single submitter beta-mannosidosis
- p.Cys764= Single submitter
- p.Gln154= Single submitter beta-mannosidosis
- p.Gln185= Single submitter beta-mannosidosis
- p.Gln199= Single submitter beta-mannosidosis
- p.Gln269= Single submitter beta-mannosidosis
- p.Gln413= Single submitter beta-mannosidosis
- p.Gln521= Single submitter beta-mannosidosis
- p.Gln598= Single submitter beta-mannosidosis
- p.Gln626= Single submitter beta-mannosidosis
- p.Gln664= Single submitter beta-mannosidosis
- p.Gln810= Single submitter
- p.Gln811= Single submitter beta-mannosidosis
- p.Glu101= Single submitter beta-mannosidosis
- p.Glu230= Single submitter beta-mannosidosis
- p.Glu276= Single submitter beta-mannosidosis
- p.Glu396= Single submitter beta-mannosidosis
- p.Glu491= Single submitter beta-mannosidosis
- p.Glu635= Single submitter beta-mannosidosis
- p.Glu751= Single submitter beta-mannosidosis
- p.Glu83= Single submitter beta-mannosidosis
- p.Glu859= Single submitter beta-mannosidosis
- p.Glu867= Single submitter beta-mannosidosis
- p.Gly174= Single submitter beta-mannosidosis
- p.Gly193= Single submitter beta-mannosidosis
- p.Gly312= Single submitter beta-mannosidosis
- p.Gly391= Single submitter beta-mannosidosis
- p.Gly392= Single submitter beta-mannosidosis
- p.Gly556= Single submitter beta-mannosidosis
- p.Gly56= Single submitter beta-mannosidosis
- p.Gly600= Single submitter beta-mannosidosis
- p.Gly649= Single submitter beta-mannosidosis
- p.Gly653= Single submitter beta-mannosidosis
- p.Gly743= Single submitter beta-mannosidosis
- p.Gly744= Single submitter beta-mannosidosis
- p.Gly837= Single submitter beta-mannosidosis
- p.His295= Single submitter beta-mannosidosis
- p.His532= Single submitter beta-mannosidosis
- p.His871= Single submitter beta-mannosidosis
- p.Ile140= Single submitter beta-mannosidosis
- p.Ile252= Single submitter beta-mannosidosis
- p.Ile266Val Single submitter intellectual disability
- p.Ile274= Single submitter beta-mannosidosis
- p.Ile281= Single submitter beta-mannosidosis
- p.Ile476= Single submitter beta-mannosidosis
- p.Ile86= Single submitter beta-mannosidosis
- p.Ile90= Single submitter beta-mannosidosis
- p.Leu110= Single submitter beta-mannosidosis
- p.Leu142= Single submitter beta-mannosidosis
- p.Leu170= Single submitter beta-mannosidosis
- p.Leu309= Single submitter beta-mannosidosis
- p.Leu372= Single submitter beta-mannosidosis
- p.Leu387= Single submitter beta-mannosidosis
- p.Leu462= Single submitter beta-mannosidosis
- p.Leu494= Single submitter beta-mannosidosis
- p.Leu583= Single submitter beta-mannosidosis
- p.Leu692= Single submitter beta-mannosidosis
- p.Leu718= Single submitter beta-mannosidosis
- p.Leu749= Single submitter beta-mannosidosis
- p.Leu75= Single submitter beta-mannosidosis
- p.Leu830= Single submitter beta-mannosidosis
- p.Lys226= Single submitter beta-mannosidosis
- p.Lys245= Single submitter beta-mannosidosis
- p.Lys257= Single submitter beta-mannosidosis
- p.Lys334= Single submitter beta-mannosidosis
- p.Lys801= Single submitter beta-mannosidosis
- p.Lys849= Single submitter beta-mannosidosis
- p.Lys95= Single submitter beta-mannosidosis
- p.Phe180= Single submitter beta-mannosidosis
- p.Phe188= Single submitter beta-mannosidosis
- p.Phe307= Single submitter beta-mannosidosis
- p.Phe471= Single submitter beta-mannosidosis
- p.Phe528= Single submitter beta-mannosidosis
- p.Phe546= Single submitter beta-mannosidosis
- p.Phe551= Single submitter beta-mannosidosis
- p.Phe563= Single submitter beta-mannosidosis
- p.Pro256= Single submitter beta-mannosidosis
- p.Pro349= Single submitter beta-mannosidosis
- p.Pro45= Single submitter beta-mannosidosis
- p.Pro561= Single submitter beta-mannosidosis
- p.Pro690= Single submitter beta-mannosidosis
- p.Pro693= Single submitter beta-mannosidosis
- p.Pro730= Single submitter beta-mannosidosis
- p.Pro784= Single submitter beta-mannosidosis
- p.Pro826= Single submitter beta-mannosidosis
Uncertain significance 241
- c.2416-3C>T Multiple submitters beta-mannosidosis
- p.Ala147Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala157Pro Multiple submitters beta-mannosidosis
- p.Ala228Val Multiple submitters beta-mannosidosis ⚠
- p.Ala434Thr Multiple submitters beta-mannosidosis ⚠
- p.Ala461Val Multiple submitters beta-mannosidosis
- p.Ala802Val Multiple submitters beta-mannosidosis ⚠
- p.Ala825Thr Multiple submitters beta-mannosidosis ⚠
- p.Arg143Cys Multiple submitters beta-mannosidosis ⚠
- p.Arg273Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg373Gln Multiple submitters beta-mannosidosis ⚠
- p.Arg550Gln Multiple submitters beta-mannosidosis ⚠
- p.Arg585Gln Multiple submitters beta-mannosidosis ⚠
- p.Arg585Leu Multiple submitters beta-mannosidosis ⚠
- p.Arg613His Multiple submitters beta-mannosidosis ⚠
- p.Arg613Leu Multiple submitters beta-mannosidosis ⚠
- p.Arg641Cys Multiple submitters beta-mannosidosis ⚠
- p.Arg766Trp Multiple submitters beta-mannosidosis ⚠
- p.Asn179Ser Multiple submitters beta-mannosidosis ⚠
- p.Asp713Val Multiple submitters Inborn genetic diseases ⚠
- p.Asp813Val Multiple submitters Inborn genetic diseases ⚠
- p.Cys761Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln377His Multiple submitters beta-mannosidosis ⚠
- p.Glu234Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu643Lys Multiple submitters beta-mannosidosis ⚠
- p.Glu848Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly102Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly200Ala Multiple submitters Inborn genetic diseases ⚠
- p.Gly271Trp Multiple submitters Inborn genetic diseases ⚠
- p.Gly812Val Multiple submitters beta-mannosidosis ⚠
- p.His468Arg Multiple submitters Inborn genetic diseases ⚠
- p.His681Arg Multiple submitters beta-mannosidosis ⚠
- p.Ile116Thr Multiple submitters beta-mannosidosis ⚠
- p.Ile140Val Multiple submitters beta-mannosidosis ⚠
- p.Ile329Met Multiple submitters beta-mannosidosis ⚠
- p.Ile333Val Multiple submitters beta-mannosidosis ⚠
- p.Ile358Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile478Met Multiple submitters beta-mannosidosis ⚠
- p.Ile878Thr Multiple submitters beta-mannosidosis ⚠
- p.Leu566Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys849fs Multiple submitters beta-mannosidosis
- p.Met303Lys Multiple submitters Inborn genetic diseases ⚠
- p.Met741Val Multiple submitters Inborn genetic diseases ⚠
- p.Met846Leu Multiple submitters beta-mannosidosis ⚠
- p.Pro447Ser Multiple submitters beta-mannosidosis ⚠
- p.Pro561Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro784Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser139Pro Multiple submitters beta-mannosidosis ⚠
- p.Ser336Phe Multiple submitters beta-mannosidosis ⚠
- p.Ser506Asn Multiple submitters beta-mannosidosis ⚠
- p.Ser525Gly Multiple submitters beta-mannosidosis ⚠
- p.Ser576Thr Multiple submitters beta-mannosidosis ⚠
- p.Thr622Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr701Arg Multiple submitters beta-mannosidosis ⚠
- p.Thr736Ile Multiple submitters beta-mannosidosis ⚠
- p.Thr847Asn Multiple submitters Inborn genetic diseases ⚠
- p.Thr847Pro Multiple submitters Inborn genetic diseases ⚠
- p.Tyr217His Multiple submitters beta-mannosidosis ⚠
- p.Tyr342Cys Multiple submitters beta-mannosidosis ⚠
- p.Tyr477Cys Multiple submitters beta-mannosidosis ⚠
- p.Val103Ala Multiple submitters Inborn genetic diseases ⚠
- p.Val797Met Multiple submitters Inborn genetic diseases ⚠
- p.Val824Asp Multiple submitters Inborn genetic diseases ⚠
- c.1113-3C>T Single submitter beta-mannosidosis
- c.1230+12A>G Single submitter beta-mannosidosis
- c.1317+3A>G Single submitter beta-mannosidosis
- c.178-3C>T Single submitter beta-mannosidosis
- c.1869+3A>T Single submitter Inborn genetic diseases
- c.2415+3A>C Single submitter
- c.272+3A>G Single submitter
- c.550-3C>A Single submitter
- c.673+6C>A Single submitter beta-mannosidosis
- c.849+11G>A Single submitter
- c.961-5605del Single submitter
- c.961-8C>A Single submitter beta-mannosidosis
- c.*172G>A Single submitter beta-mannosidosis
- c.*184A>G Single submitter beta-mannosidosis
- c.*314A>G Single submitter beta-mannosidosis
- c.*328T>A Single submitter beta-mannosidosis
- c.*447G>A Single submitter beta-mannosidosis
- c.*503G>C Single submitter beta-mannosidosis
- c.*516T>C Single submitter beta-mannosidosis
- p.Ala461Thr Single submitter Inborn genetic diseases ⚠
- p.Ala517Val Single submitter beta-mannosidosis ⚠
- p.Ala654Val Single submitter ⚠
- p.Ala684Val Single submitter Inborn genetic diseases ⚠
- p.Ala796fs Single submitter beta-mannosidosis
- p.Arg143Ser Single submitter Inborn genetic diseases ⚠
- p.Arg206Lys Single submitter beta-mannosidosis ⚠
- p.Arg366Pro Single submitter beta-mannosidosis ⚠
- p.Arg474Gln Single submitter beta-mannosidosis ⚠
- p.Arg474Trp Single submitter beta-mannosidosis ⚠
- p.Arg500Cys Single submitter Inborn genetic diseases ⚠
- p.Arg613Cys Single submitter beta-mannosidosis ⚠
- p.Arg638Cys Single submitter beta-mannosidosis ⚠
- p.Arg639Cys Single submitter beta-mannosidosis ⚠
- p.Arg639His Single submitter beta-mannosidosis ⚠
- p.Arg71Thr Single submitter ⚠
- p.Arg734Pro Single submitter beta-mannosidosis ⚠
- p.Arg738Cys Single submitter beta-mannosidosis ⚠
- p.Arg851Gly Single submitter Inborn genetic diseases ⚠
- p.Arg851Ter Single submitter beta-mannosidosis
- p.Asn356Asp Single submitter ⚠
- p.Asn385Ser Single submitter Inborn genetic diseases ⚠
- p.Asn465Ser Single submitter beta-mannosidosis ⚠
- p.Asn578His Single submitter Inborn genetic diseases ⚠
- p.Asn786Ser Single submitter beta-mannosidosis ⚠
- p.Asp136Glu Single submitter beta-mannosidosis ⚠
- p.Asp414Asn Single submitter beta-mannosidosis ⚠
- p.Asp480Gly Single submitter beta-mannosidosis ⚠
- p.Asp530Gly Single submitter beta-mannosidosis ⚠
- p.Asp60Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp610Ala Single submitter beta-mannosidosis ⚠
- p.Asp610Glu Single submitter beta-mannosidosis ⚠
- p.Asp617Ala Single submitter beta-mannosidosis ⚠
- p.Asp818His Single submitter Inborn genetic diseases ⚠
- p.Asp877Gly Single submitter beta-mannosidosis ⚠
- p.Cys419Arg Single submitter beta-mannosidosis ⚠
- p.Cys629Ser Single submitter Inborn genetic diseases ⚠
- p.Gln162Glu Single submitter beta-mannosidosis ⚠
- p.Gln397Glu Single submitter Inborn genetic diseases ⚠
- p.Gln648Lys Single submitter beta-mannosidosis ⚠
- p.Gln94Lys Single submitter beta-mannosidosis ⚠
- p.Glu459Lys Single submitter Inborn genetic diseases ⚠
- p.Glu459Val Single submitter beta-mannosidosis ⚠
- p.Glu491Lys Single submitter beta-mannosidosis ⚠
- p.Glu635Gln Single submitter Inborn genetic diseases ⚠
- p.Glu635Gly Single submitter beta-mannosidosis ⚠
- p.Glu865Val Single submitter Inborn genetic diseases ⚠
- p.Gly174Cys Single submitter beta-mannosidosis ⚠
- p.Gly249Asp Single submitter beta-mannosidosis ⚠
- p.Gly312Ala Single submitter beta-mannosidosis ⚠
- p.Gly408Glu Single submitter Inborn genetic diseases ⚠
- p.Gly408Val Single submitter beta-mannosidosis ⚠
- p.Gly427Asp Single submitter ⚠
- p.Gly556Arg Single submitter Inborn genetic diseases ⚠
- p.Gly649Trp Single submitter beta-mannosidosis ⚠
- p.Gly744Arg Single submitter Inborn genetic diseases ⚠
- p.His446Leu Single submitter ⚠
- p.His681Asn Single submitter Inborn genetic diseases ⚠
- p.His723Tyr Single submitter beta-mannosidosis ⚠
- p.His779Arg Single submitter Inborn genetic diseases ⚠
- p.His788Leu Single submitter beta-mannosidosis ⚠
- p.His871Arg Single submitter ⚠
- p.Ile358Thr Single submitter beta-mannosidosis ⚠
- p.Ile440Asn Single submitter beta-mannosidosis
- p.Ile451Lys Single submitter beta-mannosidosis ⚠
- p.Ile469Val Single submitter Inborn genetic diseases ⚠
- p.Ile537Asn Single submitter beta-mannosidosis ⚠
- p.Ile808Val Single submitter Inborn genetic diseases ⚠
- p.Ile878Val Single submitter beta-mannosidosis ⚠
- p.Ile99Val Single submitter beta-mannosidosis ⚠
- p.Leu149Val Single submitter ⚠
- p.Leu372Ser Single submitter beta-mannosidosis
- p.Leu566Ser Single submitter ⚠
- p.Leu758Gln Single submitter Inborn genetic diseases ⚠
- p.Leu830Trp Single submitter beta-mannosidosis ⚠
- p.Leu854Ser Single submitter beta-mannosidosis ⚠
- p.Lys173Asn Single submitter beta-mannosidosis ⚠
- p.Lys226Glu Single submitter beta-mannosidosis ⚠
- p.Lys272Arg Single submitter beta-mannosidosis ⚠
- p.Lys283Gln Single submitter beta-mannosidosis ⚠
- p.Lys317Thr Single submitter beta-mannosidosis ⚠
- p.Lys320Gln Single submitter beta-mannosidosis ⚠
- p.Lys353Asn Single submitter Inborn genetic diseases ⚠
- p.Lys353Glu Single submitter beta-mannosidosis ⚠
- p.Lys616Gln Single submitter Inborn genetic diseases ⚠
- p.Lys616Glu Single submitter beta-mannosidosis ⚠
- p.Lys801Gln Single submitter beta-mannosidosis ⚠
- p.Lys82Glu Single submitter beta-mannosidosis ⚠
- p.Lys85Arg Single submitter Inborn genetic diseases ⚠
- p.Lys95Glu Single submitter Inborn genetic diseases ⚠
- p.Met416Arg Single submitter beta-mannosidosis ⚠
- p.Met416Val Single submitter Inborn genetic diseases
- p.Met652Thr Single submitter Inborn genetic diseases ⚠
- p.Met679Ile Single submitter
- p.Phe551Leu Single submitter beta-mannosidosis ⚠
- p.Phe65_Arg71del Single submitter beta-mannosidosis
- p.Phe839Cys Single submitter beta-mannosidosis ⚠
- p.Pro164= Single submitter beta-mannosidosis
- p.Pro164Ser Single submitter
- p.Pro165Leu Single submitter beta-mannosidosis
- p.Pro169Ala Single submitter Inborn genetic diseases ⚠
- p.Pro197Arg Single submitter beta-mannosidosis ⚠
- p.Pro256Arg Single submitter beta-mannosidosis ⚠
- p.Pro730Ala Single submitter Inborn genetic diseases ⚠
- p.Pro793Leu Single submitter beta-mannosidosis ⚠
- p.Pro826Leu Single submitter Inborn genetic diseases ⚠
- p.Ser221Phe Single submitter Inborn genetic diseases ⚠
- p.Ser237Pro Single submitter beta-mannosidosis ⚠
- p.Ser243Arg Single submitter Inborn genetic diseases ⚠
- p.Ser318Leu Single submitter Inborn genetic diseases ⚠
- p.Ser318Thr Single submitter beta-mannosidosis ⚠
- p.Ser570Leu Single submitter beta-mannosidosis ⚠
- p.Ser579Asn Single submitter Inborn genetic diseases ⚠
- p.Ser579Gly Single submitter beta-mannosidosis ⚠
- p.Ser608Asn Single submitter beta-mannosidosis ⚠
- p.Ser712Leu Single submitter beta-mannosidosis ⚠
- p.Ser715Leu Single submitter beta-mannosidosis ⚠
- p.Ser726Cys Single submitter beta-mannosidosis ⚠
- p.Ser727Thr Single submitter ⚠
- p.Ser81Asn Single submitter beta-mannosidosis ⚠
- p.Thr159Ala Single submitter beta-mannosidosis ⚠
- p.Thr260Ala Single submitter beta-mannosidosis ⚠
- p.Thr325Ala Single submitter beta-mannosidosis ⚠
- p.Thr325Ile Single submitter ⚠
- p.Thr368Asn Single submitter Inborn genetic diseases ⚠
- p.Thr504Met Single submitter beta-mannosidosis ⚠
- p.Thr508Ala Single submitter beta-mannosidosis ⚠
- p.Thr565Ile Single submitter Inborn genetic diseases ⚠
- p.Thr632Pro Single submitter beta-mannosidosis ⚠
- p.Thr651Met Single submitter beta-mannosidosis ⚠
- p.Thr717Ile Single submitter Inborn genetic diseases ⚠
- p.Thr765Pro Single submitter Inborn genetic diseases ⚠
- p.Thr852Ile Single submitter Inborn genetic diseases ⚠
- p.Trp231Arg Single submitter ⚠
- p.Trp518Cys Single submitter ⚠
- p.Trp560Leu Single submitter beta-mannosidosis ⚠
- p.Trp725Ser Single submitter beta-mannosidosis ⚠
- p.Tyr161Cys Single submitter beta-mannosidosis
- p.Tyr224Cys Single submitter beta-mannosidosis ⚠
- p.Tyr422Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr477Asp Single submitter Inborn genetic diseases ⚠
- p.Tyr673Cys Single submitter beta-mannosidosis ⚠
- p.Tyr80Cys Single submitter beta-mannosidosis ⚠
- p.Val133Ala Single submitter Inborn genetic diseases ⚠
- p.Val163Phe Single submitter beta-mannosidosis
- p.Val178Ala Single submitter Inborn genetic diseases ⚠
- p.Val247Ile Single submitter beta-mannosidosis ⚠
- p.Val321Ile Single submitter Inborn genetic diseases ⚠
- p.Val321Leu Single submitter Inborn genetic diseases
- p.Val326Met Single submitter Inborn genetic diseases ⚠
- p.Val379Ile Single submitter ⚠
- p.Val493Ile Single submitter beta-mannosidosis ⚠
- p.Val630Ile Single submitter Inborn genetic diseases ⚠
- p.Val707Met Single submitter Inborn genetic diseases ⚠
- p.Val771Ile Single submitter beta-mannosidosis ⚠
- p.Val824Ile Single submitter beta-mannosidosis ⚠
- p.Val828fs Single submitter
- p.Val96Gly Single submitter Inborn genetic diseases ⚠
- p.Arg500del No assertion criteria