PIGW — 327 ClinVar variants
All ClinVar germline PIGW variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 174 flagged for review →
5 Pathogenic · 2 Likely pathogenic · 9 Conflicting · 5 Benign · 2 Benign/Likely benign · 96 Likely benign · 208 Uncertain significance
Full PIGW gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 174
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
PIGW p.Leu26Ser
Pathogenic
No assertion criteria
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Thr71Pro
Pathogenic
No assertion criteria
hyperphosphatasia with intellectual disability syndrome 5
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PIGW p.Ala138Val
Conflicting
Single submitter
Inborn genetic diseases
-
PIGW p.Cys103Trp
Conflicting
Single submitter
Inborn genetic diseases
-
PIGW p.Ile129Val
Conflicting
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ser178Cys
Conflicting
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Val428Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 140
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PIGW p.Ala301Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Ala379Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Arg187Lys
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Arg216Gln
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Arg330Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Arg366Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Asn259Ser
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Asn420Thr
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Glu304Lys
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Gly213Arg
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.His332Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Ile144Ser
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ile243Val
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ile307Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Ile393Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Ile414Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Leu266Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Leu343Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Met465Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Ser205Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Ser292Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Ser2Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Ser471Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Thr200Ile
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Tyr98His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Val147Met
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Val19Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Val296Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Val361Glu
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Val378Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Val480Ile
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ala105Thr
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ala146Ser
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ala275Gly
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ala314Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Ala363Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Ala379Gly
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ala476Thr
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ala76Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Arg186Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Arg188Thr
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Arg330Gln
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Arg99Gln
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Arg99Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Arg99Pro
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Asn302Ile
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Asn445Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Asn463Thr
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Asp498Asn
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Cys103Arg
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Cys103Phe
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Gln226Arg
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Gln5His
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Glu122Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Glu3Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Gly163Val
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Gly177Glu
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Gly215Arg
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Gly267Ser
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Gly288Val
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Gly391Asp
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Gly404Arg
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.His228Arg
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.His235Arg
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.His327Tyr
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ile142Val
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ile219Thr
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ile220Met
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ile243Thr
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ile255Thr
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ile337Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Ile375Val
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ile414Leu
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ile450Thr
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ile457Val
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ile88Val
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Leu107Arg
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Leu110Val
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Leu183Val
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Leu203Trp
Uncertain significance
Single submitter
hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- PIGW p.Leu253Ser Uncertain significance Single submitter
-
PIGW p.Leu274Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Leu276Phe
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Leu344Val
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Leu350Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Leu371Ser
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Leu385Phe
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Leu413Pro
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Leu469Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Leu46Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Leu474Ser
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Leu80Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Leu84Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Met167Ile
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Met167Val
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Met317Ile
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Met326Ile
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Met484Val
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
- PIGW p.Met6Thr Uncertain significance Single submitter
-
PIGW p.Phe132Val
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Phe152Cys
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Phe169Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Phe278Cys
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Phe42Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Phe478Ser
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Phe503Leu
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Phe78Leu
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Pro108Ser
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Pro208Leu
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Pro250Leu
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Pro417Ala
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Pro429Leu
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Pro436His
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Pro436Ser
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Pro51Leu
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ser120Asn
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ser137Asn
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ser416Pro
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ser426Phe
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Thr136Ser
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Thr164Ile
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Thr269Ser
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Thr309Ala
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Thr322Ile
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Thr419Lys
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
- PIGW p.Thr442Ile Uncertain significance Single submitter
-
PIGW p.Thr459Ile
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Thr59Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Thr71Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Thr73Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Trp475Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Tyr232Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Tyr355Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Tyr355His
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Val134Ile
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Val270Ala
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Val313Leu
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Val356Ile
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Val466Ile
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Val493Ala
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
Predictors split 27
The independent predictors disagree with each other — read with care.
-
PIGW p.Ile220Arg
Uncertain significance
Multiple submitters
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ser12Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Ser77Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PIGW p.Arg133Cys
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Arg133His
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Arg155Ile
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Arg155Ser
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Arg295Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Asn445Thr
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Glu304Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Gly291Cys
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
- PIGW p.Gly37Glu Uncertain significance Single submitter
-
PIGW p.Leu203Ser
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Leu39Pro
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Leu413Arg
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
- PIGW p.Leu83Arg Uncertain significance Single submitter
-
PIGW p.Lys399Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Phe116Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Phe240Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Pro108Leu
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ser381Arg
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Ser386Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Thr52Ile
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Trp207Arg
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Tyr162Cys
Uncertain significance
Single submitter
hyperphosphatasia with intellectual disability syndrome 5
-
PIGW p.Tyr483His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PIGW p.Asp60Asn
Pathogenic
No assertion criteria
hyperphosphatasia with intellectual disability syndrome 5
All PIGW variants
Pathogenic 5
- p.Arg154Gly Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg154Ser No assertion criteria hyperphosphatasia with intellectual disability syndrome 5
- p.Asp60Asn No assertion criteria hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu26Ser No assertion criteria hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Thr71Pro No assertion criteria hyperphosphatasia with intellectual disability syndrome 5 ⚠
Likely pathogenic 2
- p.Ile441fs Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Met1Thr Single submitter Inborn genetic diseases
Conflicting classifications of pathogenicity 9
- p.Ala138Val Single submitter Inborn genetic diseases ⚠
- p.Arg216Ter Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg36Gly Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Cys103Trp Single submitter Inborn genetic diseases ⚠
- p.Ile129Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu94Ter Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ser178Cys Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Val206fs Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Val428Ile Single submitter Inborn genetic diseases ⚠
Benign 5
- p.Asn126Asp Multiple submitters hyperphosphatasia with intellectual disability syndrome 5
- p.Gly85Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 5
- c.-8-212= Single submitter
- p.Leu344= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Lys7= Single submitter hyperphosphatasia with intellectual disability syndrome 5
Benign/Likely benign 2
- p.Ala340= Multiple submitters hyperphosphatasia with intellectual disability syndrome 5
- p.His235Gln Multiple submitters hyperphosphatasia with intellectual disability syndrome 5
Likely benign 96
- p.Arg303= Multiple submitters hyperphosphatasia with intellectual disability syndrome 5
- p.His327Arg Multiple submitters Inborn genetic diseases
- p.His470= Multiple submitters hyperphosphatasia with intellectual disability syndrome 5
- p.Leu266= Multiple submitters hyperphosphatasia with intellectual disability syndrome 5
- p.Val364= Multiple submitters
- p.Val378Leu Multiple submitters Inborn genetic diseases
- p.Ala138= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ala179= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ala398= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ala431= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg154= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg187= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg283= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg295= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg433= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg446= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Asn259= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Asn302= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Asn360= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Asn370= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Asn445= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Asp290= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Gln321= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Gln44= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Glu430= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Gly165= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Gly193= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Gly233= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Gly267= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Gly293= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Gly297= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.His228= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.His423= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ile135= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ile214= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ile393Thr Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ile414= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ile74= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu20= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu203= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu212= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu253= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu271= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu274= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu281= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu286= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu298= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu34= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu395= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu453= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu474= Single submitter
- p.Leu494= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu64= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu72= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu84= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Lys115= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Lys4= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Lys422= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Lys499= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Phe109= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Phe238= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Phe256= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Phe38Leu Single submitter Inborn genetic diseases
- p.Phe42= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Phe49= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Phe57= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Phe78= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Pro208= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Pro250= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Pro51= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ser120= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ser123= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ser280= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ser308= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ser48= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ter505= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Thr136= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Thr18= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Thr200= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Thr23= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Thr241= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Thr322= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Thr468= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Thr52= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Thr71= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Tyr190= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Tyr355= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Tyr483= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Tyr492= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Tyr98= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Val270= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Val356= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Val428= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Val493= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Val62= Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Val63= Single submitter hyperphosphatasia with intellectual disability syndrome 5
Uncertain significance 208
- p.Ala301Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ala379Asp Multiple submitters Inborn genetic diseases ⚠
- p.Arg187Lys Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Arg216Gln Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Arg330Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg366Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn259Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Asn420Thr Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Cys409Trp Multiple submitters hyperphosphatasia with intellectual disability syndrome 5
- p.Glu304Lys Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Gly213Arg Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Gly25Glu Multiple submitters hyperphosphatasia with intellectual disability syndrome 5
- p.His332Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile144Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile220Arg Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile243Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile307Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile393Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile414Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu266Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu343Val Multiple submitters Inborn genetic diseases ⚠
- p.Met465Ile Multiple submitters Inborn genetic diseases ⚠
- p.Ser12Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser205Ala Multiple submitters Inborn genetic diseases ⚠
- p.Ser292Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser2Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ser455Ter Multiple submitters hyperphosphatasia with intellectual disability syndrome 5
- p.Ser471Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser77Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr200Ile Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Tyr355fs Multiple submitters hyperphosphatasia with intellectual disability syndrome 5
- p.Tyr483Cys Multiple submitters hyperphosphatasia with intellectual disability syndrome 5
- p.Tyr98His Multiple submitters Inborn genetic diseases ⚠
- p.Val147Met Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Val19Met Multiple submitters Inborn genetic diseases ⚠
- p.Val296Phe Multiple submitters Inborn genetic diseases ⚠
- p.Val361Glu Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Val378Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val480Ile Multiple submitters hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ala105Thr Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ala146Ser Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ala275Gly Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ala314Glu Single submitter Inborn genetic diseases ⚠
- p.Ala363Thr Single submitter Inborn genetic diseases ⚠
- p.Ala372fs Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ala379Gly Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ala476Thr Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ala76Thr Single submitter Inborn genetic diseases ⚠
- p.Ala91Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg133Cys Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Arg133His Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Arg155del Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg155Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Arg155Ser Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Arg186Lys Single submitter Inborn genetic diseases ⚠
- p.Arg187fs Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg188Thr Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Arg295Gly Single submitter Inborn genetic diseases ⚠
- p.Arg295Trp Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg303Cys Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg330Gln Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Arg330Ter Single submitter
- p.Arg366Ter Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg36fs Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Arg99Gln Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Arg99Gly Single submitter Inborn genetic diseases ⚠
- p.Arg99Pro Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Arg99Ter Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Asn302Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Asn302Ser Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Asn370_Leu371insTer Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Asn445Ser Single submitter Inborn genetic diseases ⚠
- p.Asn445Thr Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Asn463Thr Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Asp335fs Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Asp498Asn Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Cys103Arg Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Cys103Phe Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Cys439Ser Single submitter
- p.Gln226Arg Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Gln502Ter Single submitter
- p.Gln5His Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Glu122Lys Single submitter Inborn genetic diseases ⚠
- p.Glu304Asp Single submitter Inborn genetic diseases ⚠
- p.Glu3Lys Single submitter Inborn genetic diseases ⚠
- p.Gly163Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Gly172fs Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Gly177Glu Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Gly215Arg Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Gly267Ser Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Gly288fs Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Gly288Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Gly291Cys Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Gly323Val Single submitter
- p.Gly37Glu Single submitter ⚠
- p.Gly391Asp Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Gly404Arg Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.His228Arg Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.His235_Trp236insTer Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.His235Arg Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.His327Tyr Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile142Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile219Thr Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile220Met Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile243Thr Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile255Thr Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile285del Single submitter
- p.Ile307del Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ile337Thr Single submitter Inborn genetic diseases ⚠
- p.Ile375Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile414Leu Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile450Thr Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile457Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ile88Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu107Arg Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu110Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu183Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu203del Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu203Ser Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu203Trp Single submitter hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency ⚠
- p.Leu253Ser Single submitter ⚠
- p.Leu258_Asn259insTer Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu274Pro Single submitter Inborn genetic diseases ⚠
- p.Leu276Phe Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu344Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu345del Single submitter
- p.Leu350Phe Single submitter Inborn genetic diseases ⚠
- p.Leu371Ser Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu385Phe Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu39Pro Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu401fs Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Leu413Arg Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu413Pro Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu469Ser Single submitter Inborn genetic diseases ⚠
- p.Leu46Val Single submitter Inborn genetic diseases ⚠
- p.Leu474Ser Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Leu80Phe Single submitter Inborn genetic diseases ⚠
- p.Leu83Arg Single submitter ⚠
- p.Leu84Val Single submitter Inborn genetic diseases ⚠
- p.Lys399Asn Single submitter Inborn genetic diseases ⚠
- p.Met167Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Met167Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Met317Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Met326Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Met484fs Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Met484Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Met6Thr Single submitter ⚠
- p.Phe116Leu Single submitter Inborn genetic diseases ⚠
- p.Phe132Val Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Phe152Cys Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Phe169Val Single submitter Inborn genetic diseases ⚠
- p.Phe240Val Single submitter Inborn genetic diseases ⚠
- p.Phe278Cys Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Phe351_Leu354del Single submitter
- p.Phe38fs Single submitter
- p.Phe42Cys Single submitter Inborn genetic diseases ⚠
- p.Phe478Ser Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Phe503fs Single submitter
- p.Phe503Leu Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Phe78Leu Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Pro108Leu Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Pro108Ser Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Pro208Leu Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Pro250Leu Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Pro417Ala Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Pro429Leu Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Pro436His Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Pro436Ser Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Pro51Leu Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Pro67Leu Single submitter
- p.Ser120Asn Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ser137Asn Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ser381Arg Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ser386Asn Single submitter Inborn genetic diseases ⚠
- p.Ser416Pro Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Ser424Ter Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Ser426Phe Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Thr136Ser Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Thr164Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Thr269Ser Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Thr309Ala Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Thr322Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Thr419Lys Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Thr442Ile Single submitter ⚠
- p.Thr459Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Thr52Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Thr59Ala Single submitter Inborn genetic diseases ⚠
- p.Thr71Ile Single submitter Inborn genetic diseases ⚠
- p.Thr73Ser Single submitter Inborn genetic diseases ⚠
- p.Trp207Arg Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Trp475Arg Single submitter Inborn genetic diseases ⚠
- p.Trp504Ter Single submitter
- p.Trp53Ter Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Tyr162Cys Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Tyr232Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr355Asn Single submitter Inborn genetic diseases ⚠
- p.Tyr355His Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Tyr45fs Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Tyr483His Single submitter Inborn genetic diseases ⚠
- p.Tyr98fs Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Val134Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Val270Ala Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Val313Leu Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Val339del Single submitter hyperphosphatasia with intellectual disability syndrome 5
- p.Val356Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Val466Ile Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Val493Ala Single submitter hyperphosphatasia with intellectual disability syndrome 5 ⚠
- p.Val501fs Single submitter hyperphosphatasia with intellectual disability syndrome 5