ACP5 — 330 ClinVar variants

All ClinVar germline ACP5 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 158 flagged for review →

31 Pathogenic · 3 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 8 Conflicting · 13 Benign · 5 Benign/Likely benign · 113 Likely benign · 155 Uncertain significance

Full ACP5 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 158

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 5

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

ACP5 p.Ala6Val Conflicting Single submitter
Inborn genetic diseases
ACP5 p.Gly232Arg Conflicting Single submitter
Inborn genetic diseases
ACP5 p.Ser258Arg Conflicting Single submitter
ACP5 p.Thr44Met Conflicting Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val256Leu Conflicting Single submitter
Spondyloenchondrodysplasia with immune dysregulation

Predictors lean, ClinVar uncertain 80

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

ACP5 p.Ala19Val Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Arg176Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Arg269Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Asn131Lys Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Asn50Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Asp112Asn Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Asp33Asn Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Asp80Asn Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Gly21Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Gly239Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Gly259Arg Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Gly261Trp Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Gly277Ser Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.His111Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.His205Tyr Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Leu114Phe Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Pro325Ser Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Tyr137Cys Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val178Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Ala181Asp Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ala193Glu Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ala194Val Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ala51Asp Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ala6Thr Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg129Cys Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg129Leu Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Arg174Gly Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg174Lys Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Arg196Lys Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg269Pro Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg272His Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg280His Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg324Lys Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Asn110Ile Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Asn276Thr Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Asn39Ser Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Asp177Asn Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Asp2Ala Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Asp83Glu Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Gln120Arg Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Gln191Glu Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Gln248Arg Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Glu173Lys Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Glu213Lys Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Glu286Lys Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Gly204Asp Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Gly291Arg Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Gly291Asp Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.His111Arg Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.His205Arg Uncertain significance Single submitter
ACP5 p.His218Tyr Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.His282Gln Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.His43Tyr Uncertain significance Single submitter
ACP5 p.Ile211Thr Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ile307Asn Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ile307Phe Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Leu201Pro Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Leu224Gln Uncertain significance Single submitter
ACP5 p.Leu244Pro Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Leu99Ile Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Lys128Arg Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Met154Arg Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Met154Thr Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Met3Thr Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Met48Ile Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Phe136Leu Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Phe292Leu Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Pro16Thr Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Pro207Thr Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Thr157Ala Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Thr183Arg Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Thr23Ile Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Thr285Ile Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Thr44Ala Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Thr5Ala Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Trp34Arg Uncertain significance Single submitter
ACP5 p.Tyr206Cys Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Tyr278His Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val29Ile Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val37Ile Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation

Predictors split 73

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

ACP5 p.Arg100His Benign/Likely benign Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg138Cys Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Arg182His Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg269Trp Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg324Gly Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg56Gln Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg56Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.His140Tyr Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ile307Met Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Phe141Val Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Pro16His Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Pro275Leu Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Pro320Leu Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Tyr283Cys Uncertain significance Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val106Met Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Val148Met Benign/Likely benign Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val200Met Benign/Likely benign Multiple submitters
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val93Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ACP5 p.Ala193Val Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ala195Gly Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ala195Thr Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ala55Thr Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ala63Val Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg100Cys Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg129His Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg138His Conflicting Single submitter
Inborn genetic diseases
ACP5 p.Arg182Cys Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg225Leu Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Arg272Cys Conflicting Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg27Cys Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg27His Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg280Cys Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg322Gln Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg322Gly Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg324Met Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg46Gln Likely benign Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg46Trp Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg97Cys Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Arg97His Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Asn82Ser Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Asp241Asn Pathogenic Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Asp265Gly Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Asp287Ala Likely benign Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Asp64Gly Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Gln145Leu Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Glu301Gly Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Glu308Lys Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Gly252Asp Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Gly284Glu Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ile121Thr Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Leu228Val Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Lys189Asn Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Lys190Asn Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Lys268Asn Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Lys268Glu Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Met264Lys Pathogenic Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Phe167Ser Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Pro133Arg Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Pro216Thr Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Ser98Tyr Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Thr305Ile Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Thr317Ala Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Thr317Ser Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Thr5Met Likely benign Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val202Leu Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val208Leu Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val208Met Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val253Ala Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val253Met Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val256Met Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation
ACP5 p.Val274Leu Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Val295Met Uncertain significance Single submitter
Inborn genetic diseases
ACP5 p.Val31Met Uncertain significance Single submitter
Spondyloenchondrodysplasia with immune dysregulation

All ACP5 variants

Pathogenic 31

p.Arg176Ter Multiple submitters Inborn genetic diseases
p.Ser267fs Multiple submitters Spondyloenchondrodysplasia with immune dysregulation
p.Tyr123Ter Multiple submitters Spondyloenchondrodysplasia with immune dysregulation
c.736-2A>G Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ala25fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Arg176fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Arg46fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Asp241Asn Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Cys219fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Cys238Arg Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gln184Ter Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gln245Ter Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gln87fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ile121fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ile126Ter Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Leu15fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Leu237_Gly239del Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Lys125fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Lys125Ter Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Lys84fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Met264Lys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Phe86fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ser210fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Thr89fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Tyr206Ter Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Tyr255Ter Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Tyr74Ter Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gln223Ter No assertion criteria Spondyloenchondrodysplasia with immune dysregulation
p.Gly215Arg No assertion criteria Spondyloenchondrodysplasia with immune dysregulation
p.Lys273fs No assertion criteria Spondyloenchondrodysplasia with immune dysregulation
p.Thr89Ile No assertion criteria Spondyloenchondrodysplasia with immune dysregulation

Pathogenic/Likely pathogenic 3

p.Gly109Arg Multiple submitters ACP5-related disorder
p.Ser258fs Multiple submitters Spondyloenchondrodysplasia with immune dysregulation
p.Tyr246Ter Multiple submitters Spondyloenchondrodysplasia with immune dysregulation

Likely pathogenic 2

p.Lys189fs Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Trp209fs Single submitter Spondyloenchondrodysplasia with immune dysregulation

Conflicting classifications of pathogenicity 8

p.Ala181= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ala6Val Single submitter Inborn genetic diseases ⚠
p.Arg138His Single submitter Inborn genetic diseases ⚠
p.Arg272Cys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Gly232Arg Single submitter Inborn genetic diseases ⚠
p.Ser258Arg Single submitter ⚠
p.Thr44Met Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Val256Leu Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠

Benign 13

c.1-68C>T Multiple submitters
c.261+55G>A Multiple submitters
c.-53A>G Multiple submitters
p.Asp287= Multiple submitters Spondyloenchondrodysplasia with immune dysregulation
p.Asp92= Multiple submitters Spondyloenchondrodysplasia with immune dysregulation
p.Phe75= Multiple submitters Spondyloenchondrodysplasia with immune dysregulation
p.Thr285= Multiple submitters Spondyloenchondrodysplasia with immune dysregulation
c.390-11C>G Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.735+218C>T Single submitter
c.735+315G>A Single submitter
c.-88+242A>G Single submitter
p.Leu319= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Tyr231= Single submitter Spondyloenchondrodysplasia with immune dysregulation

Benign/Likely benign 5

p.Arg100His Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Leu201= Multiple submitters Spondyloenchondrodysplasia with immune dysregulation
p.Val148Met Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Val200Met Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Val221Ile Multiple submitters Spondyloenchondrodysplasia with immune dysregulation

Likely benign 113

p.Ala108= Multiple submitters Spondyloenchondrodysplasia with immune dysregulation
p.Asp177= Multiple submitters Spondyloenchondrodysplasia with immune dysregulation
p.Tyr199= Multiple submitters Inborn genetic diseases
c.261+13C>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.261+14A>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.262-11G>C Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.262-13_262-12del Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.262-15A>G Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.262-19C>A Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.262-20G>A Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.389+13C>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.389+15G>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.389+17C>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.389+9C>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.390-11C>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.390-17C>G Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.390-17C>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.390-20G>A Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.735+10del Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.735+12G>C Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.735+13T>A Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.735+14G>A Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.735+15G>A Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.735+15G>C Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.735+18G>A Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.735+7G>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.735+8C>A Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.735+8C>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.736-13C>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.736-17T>C Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.736-18C>G Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.736-18C>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.736-6C>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.736-7T>A Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ala122= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ala193= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ala194= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ala195= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ala212= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ala22= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ala260= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ala30= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ala6= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Arg174= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Arg269= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Arg318= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Arg321= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Arg46Gln Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Asn110= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Asn251= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Asn276= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Asp165= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Asp20= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Asp287Ala Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Cys238= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gln170= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gln79= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Glu213Gln Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gly109= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gly204= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gly252= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gly259= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gly261= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gly290= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gly36= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.His111= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.His140= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.His214= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.His240= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Leu10= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Leu13= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Leu139= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Leu13Ser Single submitter Inborn genetic diseases
p.Leu14= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Leu160= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Leu220= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Leu224= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Leu244= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Leu61= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Lys312= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Phe153= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Pro103= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Pro172= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Pro207= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Pro226= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Pro275= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Pro320= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ser118= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ser127= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ser17= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Ser310= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Thr146= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Thr159= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Thr217= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Thr23= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Thr234= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Thr285Ala Single submitter Inborn genetic diseases
p.Thr303= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Thr305= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Thr44= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Thr5= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Thr5Met Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Tyr105= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Tyr206= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Tyr246= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Tyr255= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Tyr306= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Val117= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Val221= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Val253= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Val274= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Val58= Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Val93= Single submitter Spondyloenchondrodysplasia with immune dysregulation

Uncertain significance 155

p.Ala19Val Multiple submitters Inborn genetic diseases ⚠
p.Arg138Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg176Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg182His Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg269Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg269Trp Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg322Ter Multiple submitters Spondyloenchondrodysplasia with immune dysregulation
p.Arg324Gly Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg56Gln Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg56Trp Multiple submitters Inborn genetic diseases ⚠
p.Asn131Lys Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Asn50Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp112Asn Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Asp33Asn Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Asp80Asn Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Gly21Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly239Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly259Arg Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Gly261Trp Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Gly277Ser Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.His111Tyr Multiple submitters Inborn genetic diseases ⚠
p.His140Tyr Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.His205Tyr Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ile307Met Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Leu114Phe Multiple submitters Inborn genetic diseases ⚠
p.Phe141Val Multiple submitters Inborn genetic diseases ⚠
p.Pro16His Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Pro275Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro320Leu Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Pro325Ser Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Tyr137Cys Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Tyr278del Multiple submitters Inborn genetic diseases
p.Tyr283Cys Multiple submitters Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Val106Met Multiple submitters Inborn genetic diseases ⚠
p.Val178Met Multiple submitters Inborn genetic diseases ⚠
p.Val93Ile Multiple submitters Inborn genetic diseases ⚠
c.261+6T>C Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.262-14T>C Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.262-15_262-12del Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.736-3C>T Single submitter Spondyloenchondrodysplasia with immune dysregulation
c.-87-2A>G Single submitter
p.Ala181Asp Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ala193Glu Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ala193Val Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ala194Val Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ala195Gly Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ala195Thr Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ala51Asp Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ala55Thr Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ala63Val Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ala6Thr Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg100Cys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg129Cys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg129His Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg129Leu Single submitter Inborn genetic diseases ⚠
p.Arg174Gly Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg174Lys Single submitter Inborn genetic diseases ⚠
p.Arg182Cys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg196Lys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg225Leu Single submitter Inborn genetic diseases ⚠
p.Arg225Trp Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Arg269Pro Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg272His Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg27Cys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg27His Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg280Cys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg280His Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg322Gln Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg322Gly Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg324Lys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg324Met Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg46Trp Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg97Cys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Arg97His Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Asn110Ile Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Asn276Thr Single submitter Inborn genetic diseases ⚠
p.Asn39Ser Single submitter Inborn genetic diseases ⚠
p.Asn82Ser Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Asp177Asn Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Asp265Gly Single submitter Inborn genetic diseases ⚠
p.Asp2Ala Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Asp64Gly Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Asp83Glu Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Gln120Arg Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Gln145Leu Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Gln145Ter Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Gln191Glu Single submitter Inborn genetic diseases ⚠
p.Gln248Arg Single submitter Inborn genetic diseases ⚠
p.Glu173Lys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Glu213Lys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Glu286Lys Single submitter Inborn genetic diseases ⚠
p.Glu301Gly Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Glu308Lys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Gly204Asp Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Gly252Asp Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Gly284Glu Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Gly291Arg Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Gly291Asp Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.His111Arg Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.His205Arg Single submitter ⚠
p.His218Tyr Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.His282Gln Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.His43Tyr Single submitter ⚠
p.Ile121Thr Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ile211Thr Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ile307Asn Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ile307Phe Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Leu201Pro Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Leu224Gln Single submitter ⚠
p.Leu228Val Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Leu244Pro Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Leu99Ile Single submitter Inborn genetic diseases ⚠
p.Lys128Arg Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Lys189Asn Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Lys190Asn Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Lys268Asn Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Lys268Glu Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Met154Arg Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Met154Thr Single submitter Inborn genetic diseases ⚠
p.Met1Val Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Met3Thr Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Met48Ile Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Phe136Leu Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Phe167Ser Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Phe292Leu Single submitter Inborn genetic diseases ⚠
p.Pro133Arg Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Pro16Thr Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Pro207Thr Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Pro216Thr Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Ser98Tyr Single submitter Inborn genetic diseases ⚠
p.Ter326Arg Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Thr157Ala Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Thr183Arg Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Thr23Ile Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Thr285Ile Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Thr305Ile Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Thr317Ala Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Thr317Ser Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Thr44Ala Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Thr5Ala Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Trp34Arg Single submitter ⚠
p.Tyr206Cys Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Tyr278His Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Tyr306Ter Single submitter Spondyloenchondrodysplasia with immune dysregulation
p.Val202Leu Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Val208Leu Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Val208Met Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Val253Ala Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Val253Met Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Val256Met Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Val274Leu Single submitter Inborn genetic diseases ⚠
p.Val295Met Single submitter Inborn genetic diseases ⚠
p.Val29Ile Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Val31Met Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠
p.Val37Ile Single submitter Spondyloenchondrodysplasia with immune dysregulation ⚠