Sugi Variant

Sugi Variant/PIGO

PIGO — 1033 ClinVar variants

All ClinVar germline PIGO variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 506 flagged for review →

52 Pathogenic · 13 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 38 Conflicting · 19 Benign · 11 Benign/Likely benign · 333 Likely benign · 550 Uncertain significance

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

⚑ Evidence disagreements 506

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.

Predictors agree, ClinVar conflicts 19

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

Predictors lean, ClinVar uncertain 414

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 414

Predictors split 71

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

All PIGO variants

Pathogenic 52

  • p.Gln372Ter Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala149fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala452fs Single submitter
  • p.Ala60fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg450fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg615fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg66Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg69fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg814fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg985Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Asn617fs Single submitter
  • p.Cys641Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Cys648fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln1023Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln108Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln363Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln395fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln397Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln408Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln790Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln799His Single submitter hyperphosphatasia with intellectual disability syndrome 1
  • p.Gln805Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln909Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln974fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly351_Glu352insTer Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly454fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly46fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ile110fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu10fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu329fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu396fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu482fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu680fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu868fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Lys103fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe146fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe299fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro787fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser169fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser740fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser753fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Thr31fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Thr455fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Trp12Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Trp443Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Trp653Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Trp669Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Trp706Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Trp760Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Val258fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg690fs No assertion criteria
  • p.Gln55Ter No assertion criteria hyperphosphatasia with intellectual disability syndrome 2

Pathogenic/Likely pathogenic 13

  • c.3069+5G>A Multiple submitters PIGO-related disorder
  • p.Ala517fs Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg122Ter Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg376Ter Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg604fs Multiple submitters PIGO-related disorder
  • p.Arg731fs Multiple submitters PIGO-related disorder
  • p.Arg802Ter Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Glu853Ter Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly171Ter Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu957Phe Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro197fs Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Thr788fs Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Val424fs Multiple submitters hyperphosphatasia with intellectual disability syndrome 2

Likely pathogenic 17

  • c.2648-1G>A Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.3069+2T>C Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg119Trp Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • c.1119+2T>C Single submitter
  • c.2854+1G>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3069+1G>A Single submitter PIGO-related disorder
  • c.511_511+1delinsTT Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.655+1G>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg445Pro Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Asn370Ser Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Glu392fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.His908Tyr Single submitter
  • p.Ile425fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ile464fs Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Met280Thr Single submitter
  • p.Pro913fs Single submitter hyperphosphatasia-intellectual disability syndrome
  • p.Asn942Thr No assertion criteria hyperphosphatasia with intellectual disability syndrome 2 ⚠

Conflicting classifications of pathogenicity 38

  • c.2854+7C>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3070-12C>G Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3141-9T>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala157Thr Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala426Asp Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala518= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala722= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala756= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg265His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg604His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg689Cys Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg690His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg733Trp Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg970Trp Single submitter Inborn genetic diseases ⚠
  • p.Asn209Ser Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.His156= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.His357Tyr Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.His871Pro Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Leu323= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu396Gln Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Leu812Ter Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu958= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu993= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Lys536Arg Single submitter Inborn genetic diseases ⚠
  • p.Met451Arg Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Phe1055Leu Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Pro197Leu Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Pro730Ala Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ser191Phe Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ser68= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Thr129= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Thr573Ile Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Val1040Ile Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Val374= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Val487Met Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Val586= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Val879Ile Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Val90Met Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠

Benign 19

  • c.1119+122G>A Multiple submitters
  • c.1120-111A>G Multiple submitters
  • c.2647+83C>T Multiple submitters
  • c.2648-113T>G Multiple submitters
  • c.2648-51A>G Multiple submitters
  • c.3070-51C>T Multiple submitters
  • c.511+91G>A Multiple submitters
  • c.512-17C>T Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.779+49C>T Multiple submitters
  • c.779+92G>C Multiple submitters
  • c.780-125C>T Multiple submitters
  • c.*41T>G Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala468= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg733Gln Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg811Gln Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly141= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu1038= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu668= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.-2+46G>C Single submitter

Benign/Likely benign 11

  • c.1119+7A>G Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.1120-15C>A Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.2854+8del Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.*267C>G Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala154Asp Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly238= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly829= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ile855Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu491= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu708= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu840= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2

Likely benign 333

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

  • c.1119+10C>T Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.1119+11G>A Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.2854+10C>T Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.3141-15C>T Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.511+14A>G Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.512-186G>A Multiple submitters
  • c.512-7C>T Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.655+7A>C Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.656-8C>T Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.939+10G>A Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.939+12G>C Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.939+18C>T Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • c.939+97C>T Multiple submitters
  • c.-1-77G>T Multiple submitters
  • c.*8TG[1] Multiple submitters
  • p.Ala229= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala384= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala496= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala751= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala891= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala894= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg854= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Glu293= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Glu314= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Glu698Lys Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Glu807= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Glu93= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly592= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly772= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ile440= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ile464= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu212= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu292= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu30= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu300= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu554= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu732= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu780= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe153= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe196= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe921= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro548= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro986= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser309= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser893= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Thr645= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Tyr18= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Val159= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Val263= Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Val779Leu Multiple submitters Inborn genetic diseases
  • c.1119+19T>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.1120-12T>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.1120-15C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.1120-16A>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.1120-17G>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.1120-20_1120-18del Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.1120-29_1120-9del Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.1120-5G>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2647+12A>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2647+13G>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2647+14C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2647+15T>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2647+226_2647+227insAGAG Single submitter
  • c.2647+7A>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2647+8T>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2648-16A>G Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2648-18G>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2648-7C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2854+19C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2854+7C>G Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2855-19A>G Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.2855-20C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3069+248dup Single submitter
  • c.3070-12C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3070-12CTC[2] Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3070-14_3070-12del Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3070-15C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3070-18C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3070-19C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3070-25C>T Single submitter
  • c.3070-6C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3140+11T>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3140+13G>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3140+17G>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3141-13C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3141-19T>G Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3141-9T>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.511+269C>A Single submitter
  • c.511+7G>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.512-11T>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.512-17C>G Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.512-20T>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.655+12G>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.655+7A>G Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.656-10C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.656-16G>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.656-16G>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.656-9C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.779+10G>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.779+12G>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.779+17G>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.780-16A>G Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.780-17C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.780-6C>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.780-7C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.939+15G>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.939+15G>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.939+17del Single submitter
  • c.939+17T>G Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.940-13C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.940-15G>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.940-18A>G Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.940-9T>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.-1-172C>A Single submitter
  • c.-1-18C>T Single submitter
  • c.-1-27A>G Single submitter
  • c.-2+16_-2+19dup Single submitter
  • c.-2+193G>A Single submitter
  • c.-26G>T Single submitter
  • c.-94C>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala1001= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala1026= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala1045= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala193= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala22= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala296= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala328= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala345= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala362= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala371= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala419= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala426= Single submitter
  • p.Ala452= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala472= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala529= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala558= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala675= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala676= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala683= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala720= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala725= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala769= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala771= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala852= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala896= Single submitter
  • p.Ala980= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg1089= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg109= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg122= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg445= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg615Gln Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg623= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg640Cys Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg66= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg690= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg731= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg745= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg775= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg777= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg79= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg802= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg811= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg970= Single submitter
  • p.Arg997= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Asn942= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Asp1073= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Asp179= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Asp205= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Asp225= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Asp269= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Cys931= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln133= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln389= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln408= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln412= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln587= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln790= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln805= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln86= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln967= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Glu34= Single submitter
  • p.Glu427= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Glu644= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Glu989= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly1013= Single submitter
  • p.Gly1065= Single submitter
  • p.Gly171= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly178= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly276= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly284= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly332= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly453= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly476= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly53= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly606= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly749= Single submitter
  • p.Gly883= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.His116= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.His851= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.His89= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.His916= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.His928= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ile1022= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ile1033= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ile1066= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ile259= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ile340= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ile800= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu10= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu1025= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu1029= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu1064= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu107= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu1083= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu111= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu138= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu143= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu227= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu23= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu232= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu272= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu361= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu396= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu411= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu421= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu448= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu482= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu483= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu50= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu500= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu523= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu526= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu539= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu550= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu551= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu553= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu577= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu583= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu605= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu628= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu629= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu680= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu688= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu694= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu702= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu735= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu755= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu766= Single submitter
  • p.Leu793= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu821= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu842= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu869= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu872= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu937= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu957= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Leu963= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Lys1042= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Lys3= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Lys816= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe100= Single submitter
  • p.Phe186= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe190= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe337= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe525= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe580= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe80= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe82= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe944= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro197= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro217= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro312= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro336= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro422= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro44= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro45= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro478= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro51= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro546= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro574= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro603= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro652= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro697= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro787= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro878= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro888= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro913= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro975= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Pro99= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser1032= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser1058= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser1077= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser198= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser322= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser365= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser562= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser579= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser608= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser723= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser740= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ser784= Single submitter hyperphosphatasia with intellectual disability syndrome 2

Uncertain significance 550

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

  • c.2855-3C>T Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala1001Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala154Thr Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala19Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Ala297Gly Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala384Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala419Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala419Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala437Thr Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala452Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala517Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala540Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ala558Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala570Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala675Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala722Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala728Pro Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala756Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ala824Gly Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala83Thr Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala914Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala936Gly Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg1035Cys Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg1036Lys Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg119Gln Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg122Gln Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg134His Multiple submitters PIGO-related disorder ⚠
  • p.Arg32His Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg376Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg433Gln Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg433Trp Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg445Cys Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg445His Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg450Cys Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg604Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg615Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg640His Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg664Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg664Pro Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg685Cys Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg689His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg690Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg731Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Arg745Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg775Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg79Gln Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg802Gln Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg809Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg811Gly Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg811Trp Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg854Cys Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg997Trp Multiple submitters Inborn genetic diseases ⚠
  • p.Arg999Trp Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Asn162Asp Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Asn162Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Asn200Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Cys631Gly Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Cys931Tyr Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gln1087Ter Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln124His Multiple submitters Inborn genetic diseases ⚠
  • p.Gln430Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Gln86Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Glu644Lys Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Glu987Lys Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly1021Ala Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly1021Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly150Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly261Ala Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly261Arg Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly27Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly338Glu Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly350Ala Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly416Glu Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly53Arg Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly53Glu Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly876Glu Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.His379Tyr Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.His916Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Ile113Met Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ile464Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Leu138Phe Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Leu23Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu378Phe Multiple submitters Inborn genetic diseases ⚠
  • p.Leu428Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Leu457Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Leu508Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Leu554del Multiple submitters Inborn genetic diseases
  • p.Leu577Ser Multiple submitters Inborn genetic diseases
  • p.Leu622Met Multiple submitters Inborn genetic diseases ⚠
  • p.Leu654Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Leu680Pro Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Leu812Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Leu862Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu873Val Multiple submitters Inborn genetic diseases ⚠
  • p.Leu958Met Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Lys192Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Lys250Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Met132Val Multiple submitters Inborn genetic diseases ⚠
  • p.Met177Thr Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Met804Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Met836Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Phe1005Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Phe194Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Phe231Leu Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Phe575Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2
  • p.Phe808Cys Multiple submitters Inborn genetic diseases ⚠
  • p.Phe903Val Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Pro246Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro325His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro574Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro574Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Pro614Leu Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Pro652His Multiple submitters Inborn genetic diseases ⚠
  • p.Pro730His Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Pro762Leu Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Pro85Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Pro91Arg Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Pro95Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ser151Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser349Leu Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ser358Phe Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ser651Phe Multiple submitters Inborn genetic diseases
  • p.Ser723Leu Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ser833Ala Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Thr145Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Thr788Asn Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Thr841Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Thr902Ser Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Trp224Cys Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Tyr301Cys Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Tyr795His Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Val226Met Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Val321Ala Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Val487Ala Multiple submitters Inborn genetic diseases ⚠
  • p.Val763Leu Multiple submitters hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • c.2855-17_2855-16dup Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.3141-9T>G Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.512-3C>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.512-5T>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.655+4A>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.655+6C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.939+4_939+5dup Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.-1-1G>A Single submitter
  • c.*219G>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.*220G>C Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.*221G>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.*251C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.*372A>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.*382G>A Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • c.*61C>T Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala1001Glu Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala1007Gly Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala1045Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala1052Phe Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala1067Pro Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala11Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala157Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala189Ser Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala19Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala22Ser Single submitter ⚠
  • p.Ala360Asp Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala405Thr Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala417Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala452Gly Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala456Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala496Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala498Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala531Thr Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala540Glu Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala568Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala60Asp Single submitter ⚠
  • p.Ala619= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala621Gly Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala621Ser Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala635Gly Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala676Thr Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala676Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala683Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala720Thr Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala728Ser Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala751Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala756Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala773Thr Single submitter ⚠
  • p.Ala77Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala791Thr Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala824Thr Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala825Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala835Thr Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala852_Leu857del Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala852Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala874Asp Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala896Val Single submitter Inborn genetic diseases ⚠
  • p.Ala899Gly Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala945Ser Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala951Ser Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala951Val Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Ala980Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala982Thr Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Ala982Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg1035His Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg1035Leu Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg1071fs Single submitter
  • p.Arg1071Lys Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg109Trp Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg173Cys Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg265Cys Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg32Cys Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg376Leu Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg376Pro Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg436Gln Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg436Trp Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg450His Single submitter ⚠
  • p.Arg450Ser Single submitter ⚠
  • p.Arg556Cys Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg556His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg556Leu Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg640Leu Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg685His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg685Leu Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg689Pro Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg69Gln Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg69Trp Single submitter ⚠
  • p.Arg705Cys Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg705His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg705Pro Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Arg731His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg731Leu Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg731Ser Single submitter Inborn genetic diseases ⚠
  • p.Arg733Gly Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg745Gln Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg79Gly Single submitter
  • p.Arg809Gln Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg854His Single submitter ⚠
  • p.Arg970Gln Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg983Gly Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg997Gln Single submitter ⚠
  • p.Arg997Leu Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Arg999Gln Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Asn152Lys Single submitter Inborn genetic diseases ⚠
  • p.Asn942Lys Single submitter ⚠
  • p.Asn978Lys Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Asp126Gly Single submitter ⚠
  • p.Asp148Val Single submitter ⚠
  • p.Asp180Glu Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Asp203Asn Single submitter Inborn genetic diseases
  • p.Asp205Asn Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Asp220Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp277His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Asp289Gly Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Asp509Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Asp726Asn Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Asp76Asn Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Asp794Asn Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Asp981Glu Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Cys237Phe Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Cys439Tyr Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Cys641Phe Single submitter ⚠
  • p.Cys673Ser Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Cys964Arg Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Cys964Tyr Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gln1023His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gln1082Ter Single submitter
  • p.Gln1088Glu Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln108His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gln114His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gln124Glu Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gln124Pro Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gln133Arg Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gln260Arg Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gln412His Single submitter Inborn genetic diseases ⚠
  • p.Gln470_Ser474del Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gln805Arg Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gln84His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gln890His Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Glu213Ala Single submitter Inborn genetic diseases ⚠
  • p.Glu247Lys Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Glu291Asp Single submitter ⚠
  • p.Glu313Gln Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Glu314Asp Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Glu316Lys Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Glu392Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu441Lys Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Glu569Asp Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Glu643Lys Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Glu644Gln Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Glu965= Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Glu987= Single submitter
  • p.Gly1013Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly1065Ala Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly150Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly171Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly210Asp Single submitter hyperphosphatasia with intellectual disability syndrome 2
  • p.Gly210Ser Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly233Asp Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly279Arg Single submitter ⚠
  • p.Gly27Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly287Arg Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly341Val Single submitter Inborn genetic diseases ⚠
  • p.Gly350Val Single submitter hyperphosphatasia with intellectual disability syndrome 2 ⚠
  • p.Gly454Cys Single submitter ⚠