CHST3 — 458 ClinVar variants

All ClinVar germline CHST3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 157 flagged for review →

32 Pathogenic · 5 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 11 Conflicting · 34 Benign · 5 Benign/Likely benign · 135 Likely benign · 215 Uncertain significance

Full CHST3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 157

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 3

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

CHST3 p.Gly144Ser Conflicting Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ile348Met Conflicting Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg304Gln Conflicting No assertion criteria
spondyloepiphyseal dysplasia with congenital joint dislocations

Predictors lean, ClinVar uncertain 88

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

CHST3 p.Ala129Glu Uncertain significance Multiple submitters
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ala182Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CHST3 p.Ala68Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CHST3 p.Arg370His Uncertain significance Multiple submitters
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu104Gly Uncertain significance Multiple submitters
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gly177Ala Uncertain significance Multiple submitters
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.His214Tyr Uncertain significance Multiple submitters
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ile348Leu Uncertain significance Multiple submitters
Inborn genetic diseases
CHST3 p.Leu90Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CHST3 p.Lys3Glu Uncertain significance Multiple submitters
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Phe282Tyr Uncertain significance Multiple submitters
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ser227Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CHST3 p.Ser351Tyr Uncertain significance Multiple submitters
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ser92Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CHST3 p.Ala106Thr Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ala271Val Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ala308Ser Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ala442Thr Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ala456Glu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ala75Ser Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg12Gln Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Arg222Gln Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg226Leu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg301Cys Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg310Pro Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg310Ser Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg370Pro Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg429Ser Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Asn153Ile Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Asn157Asp Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Asn157Thr Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Asn344Ser Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Asp13Asn Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Asp199Glu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Asp293Tyr Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Asp61Gly Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Asp66Asn Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Cys247Ser Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Cys264Arg Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Cys264Tyr Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gln396Arg Uncertain significance Single submitter
CHST3 p.Gln402Glu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gln54His Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu150Ala Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu212Lys Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu212Val Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu268Asp Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Glu426Lys Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gly149Ser Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gly156Asp Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gly156Ser Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gly332Ser Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gly474Ser Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gly4Glu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ile33Thr Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Ile45Leu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Leu52Val Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Leu99Ser Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Lys267Arg Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Lys267Gln Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Lys3Gln Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Lys435Arg Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Met107Lys Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Met219Val Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Met432Ile Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Met448Val Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Phe147Leu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Phe174Val Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Pro105Ala Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Pro126Ala Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Pro126Arg Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Pro176Arg Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Pro176Leu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Pro303Thr Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Pro359Leu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Pro378Arg Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Pro8Ser Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Ser145Phe Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ser146Pro Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ser422Pro Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ser49Thr Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Thr235Met Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Thr258Arg Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Val103Met Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Val148Leu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Val29Phe Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Val34Ile Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Val275Met Uncertain significance No assertion criteria

Predictors split 66

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

CHST3 p.Ala389Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CHST3 p.Arg387His Benign Multiple submitters
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ile414Met Uncertain significance Multiple submitters
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Leu90Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CHST3 p.Pro123Leu Uncertain significance Multiple submitters
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Pro285Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CHST3 p.Ala110Thr Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ala129Val Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ala179Thr Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ala382Gly Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Ala389Val Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Ala443Thr Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg12Trp Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg132Gln Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg132Gly Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg133His Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg170Gly Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg265Gly Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Arg363Trp Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Arg365His Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Arg376Cys Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Arg465His Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Asn180Tyr Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Asp326Asn Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gln155Lys Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gln194His Likely benign Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu108Lys Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu112Lys Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu114Gln Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu116Asp Conflicting Single submitter
Inborn genetic diseases
CHST3 p.Glu116Gly Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu120Lys Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Glu169Lys Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu230Lys Conflicting Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu243Asp Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Glu288Lys Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu335Lys Conflicting Single submitter
Inborn genetic diseases
CHST3 p.Glu346Lys Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu353Ala Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu353Asp Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Glu384Gly Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu39Lys Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Glu472Lys Likely benign Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Glu82Lys Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gly390Asp Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Gly413Cys Uncertain significance Single submitter
CHST3 p.His205Tyr Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.His214Gln Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Leu292Val Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Leu470Arg Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Leu7Met Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Leu99Met Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Phe242Leu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Phe434Leu Uncertain significance Single submitter
Inborn genetic diseases
CHST3 p.Pro126Gln Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Pro126Leu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Pro290Arg Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Pro392Thr Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Pro395Leu Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Pro56His Uncertain significance Single submitter
CHST3 p.Ser173Phe Conflicting Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Thr141Met Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Val191Met Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Val233Ile Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Val306Met Uncertain significance Single submitter
spondyloepiphyseal dysplasia with congenital joint dislocations
CHST3 p.Val397Ala Uncertain significance Single submitter
Inborn genetic diseases

All CHST3 variants

Pathogenic 32

c.141-1G>C Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Asp302His Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Asp326fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Cys229fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gln438Ter Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gln91Ter Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu112Ter Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu122fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu268Ter Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu384fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu255fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu26_Phe27insTer Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu286fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu28Ter Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Lys240Ter Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Lys419del Single submitter Larsen syndrome
p.Phe242fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro164Leu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro392_Leu393insTer Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser79_Leu80insTer Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Thr171fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Val233fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg222Trp No assertion criteria spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg363fs No assertion criteria spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gln330Ter No assertion criteria spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu372Lys No assertion criteria spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gly355Arg No assertion criteria spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu161Phe No assertion criteria spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu259Pro No assertion criteria spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu286Pro No assertion criteria spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu307Pro No assertion criteria spondyloepiphyseal dysplasia with congenital joint dislocations
p.Tyr201Ter No assertion criteria spondyloepiphyseal dysplasia with congenital joint dislocations

Pathogenic/Likely pathogenic 5

p.Ala127fs Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala179fs Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg221Cys Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu230Ter Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Phe159Ile Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations

Likely pathogenic 21

p.Asn63fs Multiple submitters
p.Ser431fs Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
c.141-1_141inv Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala261fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala315fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala389Pro Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg142Cys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg304Pro Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Asn256Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Asp66fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Cys444Trp Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu288Ter Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu372Ter Single submitter Larsen-like syndrome, B3GAT3 type
p.Gly144Asp Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gly253Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.His134Tyr Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.His167Arg Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ile168Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu286Gln Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser351Phe Single submitter
p.Tyr453Cys No assertion criteria spondyloepiphyseal dysplasia with congenital joint dislocations

Conflicting classifications of pathogenicity 11

p.Asn180= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu116Asp Single submitter Inborn genetic diseases ⚠
p.Glu230Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu335Lys Single submitter Inborn genetic diseases ⚠
p.Gly144Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ile348Met Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Leu379= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser173Phe Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Thr141= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Thr65= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg304Gln No assertion criteria spondyloepiphyseal dysplasia with congenital joint dislocations ⚠

Benign 34

c.140+33T>G Multiple submitters
c.*763C>A Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala139= Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg357Gln Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg387His Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg449= Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
c.140+255A>G Single submitter
c.-107-281T>C Single submitter
c.-294C>G Single submitter
c.*1278C>T Single submitter
c.*1314G>A Single submitter
c.*1361C>T Single submitter
c.*1844C>T Single submitter
c.*1888T>C Single submitter
c.*2170T>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*2349A>G Single submitter
c.*2422T>C Single submitter
c.*2464C>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*3053C>T Single submitter
c.*3301G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*3477G>A Single submitter
c.*3785G>A Single submitter
c.*3932G>T Single submitter
c.*3987G>A Single submitter
c.*4107T>C Single submitter
c.*4300G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*4421G>C Single submitter
c.*4432T>A Single submitter
c.*4533C>T Single submitter
c.*4785G>A Single submitter
c.*7C>T Single submitter
p.Asp399= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gln155His Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Thr171= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations

Benign/Likely benign 5

p.Arg276= Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ile391= Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Phe476= Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Val187= Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Val36= Multiple submitters Larsen-like syndrome, B3GAT3 type

Likely benign 135

c.*2349A>C Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Asp327Ala Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Cys444= Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gly102= Multiple submitters Inborn genetic diseases
p.Leu455Val Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Tyr24= Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
c.140+11C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.141-14C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.141-17C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*1006T>C Single submitter
c.*1101T>G Single submitter
c.*1899G>A Single submitter
c.*2126A>C Single submitter
c.*255C>T Single submitter
c.*3039C>T Single submitter
c.*3555G>A Single submitter
c.*4770G>A Single submitter
p.Ala109= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala127= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala129= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala25= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala260= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala271= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala287= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala305= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala315= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala352= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala389= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala407= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala408= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala442= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala447= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala456= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala460= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg12= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg222= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg265= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg301= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg365= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg370= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg376= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg383= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Arg93= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Asn420= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Asn74= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Asp190= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Asp302= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Asp331= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Cys198= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Cys229= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Cys345= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gln194His Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gln339= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gln396= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gln418= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu116= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu120= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu121= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu2= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu230= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Glu472Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gly149= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gly178= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gly183= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gly253= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gly377Arg Single submitter Inborn genetic diseases
p.His16= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ile168= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ile38= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ile44= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ile70= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu18= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu197= Single submitter
p.Leu203= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu210= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu255= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu280= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu283= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu350= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu354= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu368= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu436= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu450= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu455= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu470= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu59= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu69= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu77= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu83= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Lys19= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Lys240= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Lys381= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Phe162= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Phe196= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Phe206= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Phe237= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Phe314= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Phe37= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Phe425= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro123= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro126= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro164= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro176= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro211= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro232= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro285= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro378= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro395= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro56= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Pro67= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser184= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser224= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser227= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser351= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser421= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser422= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser431= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser468= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser81= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ser85= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Thr143= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Thr208= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Thr235= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Thr320= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Thr320Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Thr394= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Thr417= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Tyr160= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Tyr201= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Tyr386= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Val128= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Val128Leu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Val32= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Val338= Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Leu259= No assertion criteria CHST3-related disorder

Uncertain significance 215

c.*57G>T Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
c.*66G>T Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala129Glu Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ala182Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala389Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala68Thr Multiple submitters Inborn genetic diseases ⚠
p.Arg370His Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu104Gly Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gly177Ala Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.His214Tyr Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ile348Leu Multiple submitters Inborn genetic diseases ⚠
p.Ile414Met Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Leu90Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu90Pro Multiple submitters Inborn genetic diseases ⚠
p.Lys3Glu Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Phe282Tyr Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Pro123Leu Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Pro285Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser227Cys Multiple submitters Inborn genetic diseases ⚠
p.Ser351Tyr Multiple submitters spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ser92Arg Multiple submitters Inborn genetic diseases ⚠
c.-164C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.-300C>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.-98G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*1088A>G Single submitter
c.*1184C>G Single submitter
c.*1212C>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*1385T>C Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*1453G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*1496C>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*1608C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*1726C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*1762C>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*1811C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*2257G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*2352G>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*2484A>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*2535C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*2717C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*2728C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*274C>T Single submitter
c.*2810C>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*2830G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*2845G>C Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*2856G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*2869G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*2895G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*3040G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*3272C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*3306A>G Single submitter
c.*3340A>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*3391A>C Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*346C>T Single submitter
c.*3542A>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*3571T>C Single submitter
c.*3633C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*3706G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*3811C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*3877A>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*3961T>C Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*406G>A Single submitter
c.*4108G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*4156A>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*4265T>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*4341C>A Single submitter
c.*4359A>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*4450G>C Single submitter
c.*4523A>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*4556A>G Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*4580G>A Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*4633G>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*469C>A Single submitter
c.*4869G>A Single submitter
c.*4884C>G Single submitter
c.*4886G>C Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*5026C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*710G>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*786G>C Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*900C>T Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
c.*969A>C Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Ala106Thr Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ala110Thr Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ala129Val Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ala179Thr Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ala271Val Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ala308Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ala382Gly Single submitter Inborn genetic diseases ⚠
p.Ala389Val Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ala442Thr Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ala443Thr Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ala456Glu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ala75Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg12Gln Single submitter Inborn genetic diseases ⚠
p.Arg12Trp Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg132Gln Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg132Gly Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg133His Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg170Gly Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg222Gln Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg226Leu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg265Gly Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg301Cys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg310Pro Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg310Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg363Trp Single submitter Inborn genetic diseases ⚠
p.Arg365His Single submitter Inborn genetic diseases ⚠
p.Arg370Pro Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Arg376Cys Single submitter Inborn genetic diseases ⚠
p.Arg429Ser Single submitter Inborn genetic diseases ⚠
p.Arg465His Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Asn153Ile Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Asn157Asp Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Asn157Thr Single submitter Inborn genetic diseases ⚠
p.Asn180Tyr Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Asn344Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Asp13Asn Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Asp199Glu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Asp293Tyr Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Asp326Asn Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Asp61Gly Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Asp66Asn Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Cys247Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Cys264Arg Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Cys264Tyr Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gln155Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gln396Arg Single submitter ⚠
p.Gln402Glu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gln54His Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu108Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu112Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu114Gln Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu116Gly Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu120Lys Single submitter Inborn genetic diseases ⚠
p.Glu150Ala Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu169Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu212Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu212Val Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu243Asp Single submitter Inborn genetic diseases ⚠
p.Glu268Asp Single submitter Inborn genetic diseases ⚠
p.Glu288Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu346Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu353Ala Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu353Asp Single submitter Inborn genetic diseases ⚠
p.Glu372= Single submitter
p.Glu384Gly Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu39Lys Single submitter Inborn genetic diseases ⚠
p.Glu426Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Glu82Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gly149Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gly156Asp Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gly156Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gly316fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Gly332Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gly390Asp Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gly413Cys Single submitter ⚠
p.Gly474Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Gly4Glu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.His205Tyr Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.His214Gln Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ile33Thr Single submitter Inborn genetic diseases ⚠
p.Ile45Leu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Leu292Val Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Leu470Arg Single submitter Inborn genetic diseases ⚠
p.Leu52Val Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Leu7Met Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Leu99Met Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Leu99Ser Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Lys267Arg Single submitter Inborn genetic diseases ⚠
p.Lys267Gln Single submitter Inborn genetic diseases ⚠
p.Lys3Gln Single submitter Inborn genetic diseases ⚠
p.Lys435Arg Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Met107Lys Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Met1Thr Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Met219Val Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Met270fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Met432Ile Single submitter Inborn genetic diseases ⚠
p.Met448Val Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Phe147Leu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Phe174Val Single submitter Inborn genetic diseases ⚠
p.Phe242Leu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Phe434Leu Single submitter Inborn genetic diseases ⚠
p.Pro105Ala Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Pro126Ala Single submitter Inborn genetic diseases ⚠
p.Pro126Arg Single submitter Inborn genetic diseases ⚠
p.Pro126Gln Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Pro126Leu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Pro176Arg Single submitter Inborn genetic diseases ⚠
p.Pro176Leu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Pro290Arg Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Pro303Thr Single submitter Inborn genetic diseases ⚠
p.Pro359Leu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Pro378Arg Single submitter Inborn genetic diseases ⚠
p.Pro392Thr Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Pro395Leu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Pro56His Single submitter ⚠
p.Pro8Ser Single submitter Inborn genetic diseases ⚠
p.Ser145Phe Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ser146Pro Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ser422Pro Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Ser49Thr Single submitter Inborn genetic diseases ⚠
p.Thr141Met Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Thr235Met Single submitter Inborn genetic diseases ⚠
p.Thr258Arg Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Val103Met Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Val148Leu Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Val191Met Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Val233Ile Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Val29Phe Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Val306Met Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Val32_Ile33insMetValPheValVal Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Val34Ile Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations ⚠
p.Val397= Single submitter
p.Val397Ala Single submitter Inborn genetic diseases ⚠
p.Val440fs Single submitter spondyloepiphyseal dysplasia with congenital joint dislocations
p.Val275Met No assertion criteria ⚠