Sugi Variant

Sugi Variant/EVC2

EVC2 — 2123 ClinVar variants

All ClinVar germline EVC2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 563 flagged for review →

164 Pathogenic · 37 Pathogenic/Likely pathogenic · 125 Likely pathogenic · 68 Conflicting · 107 Benign · 46 Benign/Likely benign · 935 Likely benign · 641 Uncertain significance

Full EVC2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 563

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 26

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

Predictors lean, ClinVar uncertain 488

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 488

Predictors split 49

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

All EVC2 variants

Pathogenic 164

  • c.1470+1dup Multiple submitters acrofacial dysostosis, Weyers type
  • c.3360+1G>A Multiple submitters acrofacial dysostosis, Weyers type
  • c.871-2_894del Multiple submitters Ellis-van Creveld syndrome
  • p.Arg399Ter Multiple submitters EVC2-related disorders
  • p.Arg463fs Multiple submitters acrofacial dysostosis, Weyers type
  • p.Arg677Ter Multiple submitters EVC2-related disorders
  • p.Arg698Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Arg826Ter Multiple submitters Ellis-van Creveld syndrome
  • p.Gln1089Ter Multiple submitters Inborn genetic diseases
  • p.Gln444Ter Multiple submitters Ellis-van Creveld syndrome
  • p.Gln570Ter Multiple submitters Ellis-van Creveld syndrome
  • p.Gln619Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Gln755Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Glu179Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Gly1136fs Multiple submitters acrofacial dysostosis, Weyers type
  • p.Leu982fs Multiple submitters acrofacial dysostosis, Weyers type
  • p.Lys92Ter Multiple submitters Ellis-van Creveld syndrome
  • p.Ser1220fs Multiple submitters acrofacial dysostosis, Weyers type
  • p.Thr284fs Multiple submitters Ellis-van Creveld syndrome
  • p.Trp215Ter Multiple submitters Ellis-van Creveld syndrome
  • p.Trp314Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Trp828Ter Multiple submitters Ellis-van Creveld syndrome
  • c.3057+1del Single submitter Ellis-van Creveld syndrome
  • c.519+2T>C Single submitter Ellis-van Creveld syndrome
  • c.519+2T>G Single submitter Ellis-van Creveld syndrome
  • c.707-2A>C Single submitter acrofacial dysostosis, Weyers type
  • c.707-2A>G Single submitter acrofacial dysostosis, Weyers type
  • c.816+2T>C Single submitter acrofacial dysostosis, Weyers type
  • p.Ala22fs Single submitter acrofacial dysostosis, Weyers type
  • p.Ala487fs Single submitter Ellis-van Creveld syndrome
  • p.Ala530fs Single submitter Ellis-van Creveld syndrome
  • p.Arg1200Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Arg274Ter Single submitter Ellis-van Creveld syndrome
  • p.Arg28fs Single submitter acrofacial dysostosis, Weyers type
  • p.Arg676fs Single submitter acrofacial dysostosis, Weyers type
  • p.Arg796fs Single submitter Ellis-van Creveld syndrome
  • p.Arg874fs Single submitter acrofacial dysostosis, Weyers type
  • p.Arg885Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Asn361fs Single submitter Ellis-van Creveld syndrome
  • p.Asn572fs Single submitter acrofacial dysostosis, Weyers type
  • p.Asp1065fs Single submitter Ellis-van Creveld syndrome
  • p.Asp1181fs Single submitter acrofacial dysostosis, Weyers type
  • p.Asp448Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Asp49fs Single submitter Ellis-van Creveld syndrome
  • p.Cys30_Leu31delinsTer Single submitter acrofacial dysostosis, Weyers type
  • p.Cys932_Glu933delinsTer Single submitter acrofacial dysostosis, Weyers type
  • p.Gln1031Ter Single submitter
  • p.Gln1069Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Gln1152fs Single submitter Ellis-van Creveld syndrome
  • p.Gln1179fs Single submitter Ellis-van Creveld syndrome
  • p.Gln1219Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln235Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln264Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln268Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Gln276fs Single submitter Ellis-van Creveld syndrome
  • p.Gln363_Met364insTer Single submitter acrofacial dysostosis, Weyers type
  • p.Gln378Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Gln435Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln507Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Gln603fs Single submitter Ellis-van Creveld syndrome
  • p.Gln610Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln619fs Single submitter Ellis-van Creveld syndrome
  • p.Gln686fs Single submitter acrofacial dysostosis, Weyers type
  • p.Gln686Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln690fs Single submitter acrofacial dysostosis, Weyers type
  • p.Gln690Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln730Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln761fs Single submitter acrofacial dysostosis, Weyers type
  • p.Gln800Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln804Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Gln861Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln878Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Gln894Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Gln904Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Gln965fs Single submitter acrofacial dysostosis, Weyers type
  • p.Glu1164fs Single submitter acrofacial dysostosis, Weyers type
  • p.Glu1251Ter Single submitter Ellis-van Creveld syndrome
  • p.Glu202fs Single submitter acrofacial dysostosis, Weyers type
  • p.Glu224fs Single submitter acrofacial dysostosis, Weyers type
  • p.Glu257Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Glu371fs Single submitter
  • p.Glu445fs Single submitter Ellis-van Creveld syndrome
  • p.Glu536Ter Single submitter Ellis-van Creveld syndrome
  • p.Glu606Ter Single submitter Ellis-van Creveld syndrome
  • p.Glu72fs Single submitter acrofacial dysostosis, Weyers type
  • p.Glu778fs Single submitter Ellis-van Creveld syndrome
  • p.Glu779Ter Single submitter Ellis-van Creveld syndrome
  • p.Glu789Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Glu794fs Single submitter Ellis-van Creveld syndrome
  • p.Glu794Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Glu845Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Glu847fs Single submitter acrofacial dysostosis, Weyers type
  • p.Glu847Ter Single submitter Ellis-van Creveld syndrome
  • p.Glu900Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Glu980Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Gly1269Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Gly219Ter Single submitter Ellis-van Creveld syndrome
  • p.Gly29fs Single submitter acrofacial dysostosis, Weyers type
  • p.Gly593fs Single submitter Ellis-van Creveld syndrome
  • p.Gly70fs Single submitter acrofacial dysostosis, Weyers type
  • p.Gly802fs Single submitter acrofacial dysostosis, Weyers type
  • p.His717fs Single submitter acrofacial dysostosis, Weyers type
  • p.Ile111fs Single submitter Ellis-van Creveld syndrome
  • p.Ile131fs Single submitter Ellis-van Creveld syndrome
  • p.Ile569fs Single submitter Ellis-van Creveld syndrome
  • p.Leu1084Ter Single submitter Ellis-van Creveld syndrome
  • p.Leu1085fs Single submitter acrofacial dysostosis, Weyers type
  • p.Leu1212fs Single submitter Ellis-van Creveld syndrome
  • p.Leu1266Ter Single submitter Ellis-van Creveld syndrome
  • p.Leu388fs Single submitter Ellis-van Creveld syndrome
  • p.Leu510Ter Single submitter Ellis-van Creveld syndrome
  • p.Leu514fs Single submitter acrofacial dysostosis, Weyers type
  • p.Leu721fs Single submitter Ellis-van Creveld syndrome
  • p.Leu948Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Lys105fs Single submitter acrofacial dysostosis, Weyers type
  • p.Lys1216_Arg1217delinsAsnTer Single submitter Ellis-van Creveld syndrome
  • p.Lys278Ter Single submitter Ellis-van Creveld syndrome
  • p.Lys665fs Single submitter Ellis-van Creveld syndrome
  • p.Lys670fs Single submitter acrofacial dysostosis, Weyers type
  • p.Lys85Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Lys917fs Single submitter acrofacial dysostosis, Weyers type
  • p.Met956fs Single submitter acrofacial dysostosis, Weyers type
  • p.Phe140fs Single submitter acrofacial dysostosis, Weyers type
  • p.Phe302fs Single submitter acrofacial dysostosis, Weyers type
  • p.Phe580fs Single submitter Ellis-van Creveld syndrome
  • p.Phe841fs Single submitter Ellis-van Creveld syndrome
  • p.Phe880fs Single submitter Ellis-van Creveld syndrome
  • p.Pro1153fs Single submitter acrofacial dysostosis, Weyers type
  • p.Pro132fs Single submitter Ellis-van Creveld syndrome
  • p.Pro293fs Single submitter Fetal anomalies with a likely genetic cause
  • p.Pro556fs Single submitter Ellis-van Creveld syndrome
  • p.Pro71fs Single submitter acrofacial dysostosis, Weyers type
  • p.Ser1008Ter Single submitter Ellis-van Creveld syndrome
  • p.Ser1245Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Ser35Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Ser370fs Single submitter acrofacial dysostosis, Weyers type
  • p.Ser496fs Single submitter acrofacial dysostosis, Weyers type
  • p.Ser547fs Single submitter Ellis-van Creveld syndrome
  • p.Ser839Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Ser842fs Single submitter Ellis-van Creveld syndrome
  • p.Ser910Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Ser916fs Single submitter acrofacial dysostosis, Weyers type
  • p.Ser966Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Thr1116fs Single submitter Ellis-van Creveld syndrome
  • p.Thr147Ter Single submitter Ellis-van Creveld syndrome
  • p.Thr647fs Single submitter Ellis-van Creveld syndrome
  • p.Trp1047Ter Single submitter Ellis-van Creveld syndrome
  • p.Trp1192Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Trp1213fs Single submitter acrofacial dysostosis, Weyers type
  • p.Trp123fs Single submitter Ellis-van Creveld syndrome
  • p.Trp186Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Tyr470Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Tyr586fs Single submitter acrofacial dysostosis, Weyers type
  • p.Tyr597Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Tyr985fs Single submitter acrofacial dysostosis, Weyers type
  • p.Val1255fs Single submitter acrofacial dysostosis, Weyers type
  • p.Val189fs Single submitter EVC2-related disorders
  • p.Val968fs Single submitter Ellis-van Creveld syndrome
  • c.1711-2A>C No assertion criteria Ellis-van Creveld syndrome
  • p.Arg9fs No assertion criteria Ellis-van Creveld syndrome
  • p.Glu663Ter No assertion criteria Ellis-van Creveld syndrome
  • p.Ile283Arg No assertion criteria Ellis-van Creveld syndrome
  • p.Leu1265fs No assertion criteria acrofacial dysostosis, Weyers type
  • p.Thr673fs No assertion criteria Ellis-van Creveld syndrome

Pathogenic/Likely pathogenic 37

  • c.3361-2del Multiple submitters Ellis-van Creveld syndrome
  • c.3659+2T>C Multiple submitters Ellis-van Creveld syndrome
  • c.519+1G>A Multiple submitters Ellis-van Creveld syndrome
  • c.816+1G>T Multiple submitters Ellis-van Creveld syndrome
  • p.Ala69fs Multiple submitters Ellis-van Creveld syndrome
  • p.Arg274fs Multiple submitters acrofacial dysostosis, Weyers type
  • p.Arg874Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Arg945Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Asp207Tyr Multiple submitters acrofacial dysostosis, Weyers type
  • p.Cys88Ter Multiple submitters Ellis-van Creveld syndrome
  • p.Gln1041Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Gln249Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Gln45Ter Multiple submitters EVC2-related disorders
  • p.Gln681Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Gln790Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Gln965Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Glu997Ter Multiple submitters Ellis-van Creveld syndrome
  • p.Gly43fs Multiple submitters acrofacial dysostosis, Weyers type
  • p.Gly961Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.His298fs Multiple submitters acrofacial dysostosis, Weyers type
  • p.Leu150fs Multiple submitters acrofacial dysostosis, Weyers type
  • p.Leu18fs Multiple submitters acrofacial dysostosis, Weyers type
  • p.Leu656Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Lys1027fs Multiple submitters Inborn genetic diseases
  • p.Lys1080fs Multiple submitters acrofacial dysostosis, Weyers type
  • p.Lys342Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Lys674Ter Multiple submitters Ellis-van Creveld syndrome
  • p.Phe650_Lys655delinsTer Multiple submitters acrofacial dysostosis, Weyers type
  • p.Ser1126fs Multiple submitters Ellis-van Creveld syndrome
  • p.Ser114Ter Multiple submitters Ellis-van Creveld syndrome
  • p.Ser223Ter Multiple submitters EVC2-related disorder
  • p.Ser67fs Multiple submitters acrofacial dysostosis, Weyers type
  • p.Thr11fs Multiple submitters acrofacial dysostosis, Weyers type
  • p.Trp39Ter Multiple submitters Ellis-van Creveld syndrome
  • p.Trp884Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Tyr447Ter Multiple submitters acrofacial dysostosis, Weyers type
  • p.Tyr632Ter Multiple submitters Ellis-van Creveld syndrome

Likely pathogenic 125

  • c.2046+1G>A Multiple submitters Ellis-van Creveld syndrome
  • c.2047-2A>G Multiple submitters acrofacial dysostosis, Weyers type
  • c.222_228+21del Multiple submitters Ellis-van Creveld syndrome
  • c.229-1G>T Multiple submitters Ellis-van Creveld syndrome
  • c.229-2A>G Multiple submitters EVC2-related disorders
  • c.450+2T>C Multiple submitters acrofacial dysostosis, Weyers type
  • c.451-1_452del Multiple submitters acrofacial dysostosis, Weyers type
  • c.451-2A>G Multiple submitters acrofacial dysostosis, Weyers type
  • c.706+2T>C Multiple submitters Ellis-van Creveld syndrome
  • c.817-2A>G Multiple submitters acrofacial dysostosis, Weyers type
  • c.1005+1G>A Single submitter acrofacial dysostosis, Weyers type
  • c.1145+2del Single submitter acrofacial dysostosis, Weyers type
  • c.1145+2T>G Single submitter acrofacial dysostosis, Weyers type
  • c.1146-2A>T Single submitter Ellis-van Creveld syndrome
  • c.1470+1G>C Single submitter Ellis-van Creveld syndrome
  • c.1470+2T>C Single submitter acrofacial dysostosis, Weyers type
  • c.1471-2168_1835del Single submitter acrofacial dysostosis, Weyers type
  • c.1710+1G>A Single submitter Ellis-van Creveld syndrome
  • c.1710+2T>C Single submitter acrofacial dysostosis, Weyers type
  • c.1711-1G>A Single submitter acrofacial dysostosis, Weyers type
  • c.2046+1G>C Single submitter acrofacial dysostosis, Weyers type
  • c.2046+1G>T Single submitter acrofacial dysostosis, Weyers type
  • c.2047-1G>T Single submitter Ellis-van Creveld syndrome
  • c.228+2T>G Single submitter acrofacial dysostosis, Weyers type
  • c.2501+1G>T Single submitter acrofacial dysostosis, Weyers type
  • c.2501+2T>G Single submitter acrofacial dysostosis, Weyers type
  • c.2706+1G>A Single submitter acrofacial dysostosis, Weyers type
  • c.2707-1G>A Single submitter acrofacial dysostosis, Weyers type
  • c.2707-1G>T Single submitter acrofacial dysostosis, Weyers type
  • c.2707-2A>G Single submitter acrofacial dysostosis, Weyers type
  • c.2829+1G>A Single submitter Ellis-van Creveld syndrome
  • c.2829+2T>C Single submitter acrofacial dysostosis, Weyers type
  • c.2829+2T>G Single submitter acrofacial dysostosis, Weyers type
  • c.2830-1G>T Single submitter acrofacial dysostosis, Weyers type
  • c.3058-1G>C Single submitter acrofacial dysostosis, Weyers type
  • c.3058-1G>T Single submitter Ellis-van Creveld syndrome
  • c.3272+1G>T Single submitter acrofacial dysostosis, Weyers type
  • c.3273-2A>C Single submitter acrofacial dysostosis, Weyers type
  • c.3273-2del Single submitter Ellis-van Creveld syndrome
  • c.3361-255_3481del Single submitter acrofacial dysostosis, Weyers type
  • c.3361-2A>G Single submitter Ellis-van Creveld syndrome
  • c.3558-2A>G Single submitter acrofacial dysostosis, Weyers type
  • c.450+1G>C Single submitter Ellis-van Creveld syndrome
  • c.450+2T>G Single submitter Ellis-van Creveld syndrome
  • c.451-1G>T Single submitter acrofacial dysostosis, Weyers type
  • c.520-2A>T Single submitter acrofacial dysostosis, Weyers type
  • c.816+2T>A Single submitter acrofacial dysostosis, Weyers type
  • c.817-1G>T Single submitter acrofacial dysostosis, Weyers type
  • c.870+1G>A Single submitter Ellis-van Creveld syndrome
  • c.870+2T>C Single submitter acrofacial dysostosis, Weyers type
  • p.Ala129fs Single submitter acrofacial dysostosis, Weyers type
  • p.Ala618fs Single submitter Ellis-van Creveld syndrome
  • p.Ala747fs Single submitter Ellis-van Creveld syndrome
  • p.Ala987fs Single submitter acrofacial dysostosis, Weyers type
  • p.Arg156fs Single submitter Ellis-van Creveld syndrome
  • p.Arg952fs Single submitter Ellis-van Creveld syndrome
  • p.Asp238fs Single submitter Ellis-van Creveld syndrome
  • p.Asp799fs Single submitter Ellis-van Creveld syndrome
  • p.Gln1096Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Gln1154fs Single submitter Ellis-van Creveld syndrome
  • p.Gln1179Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln338Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln518fs Single submitter Ellis-van Creveld syndrome
  • p.Gln625fs Single submitter Ellis-van Creveld syndrome
  • p.Gln669Ter Single submitter Ellis-van Creveld syndrome
  • p.Gln774Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Gln804fs Single submitter acrofacial dysostosis, Weyers type
  • p.Gln881Ter Single submitter EVC2-related disorders
  • p.Gln992Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Glu1015Ter Single submitter Ellis-van Creveld syndrome
  • p.Glu1094fs Single submitter Ellis-van Creveld syndrome
  • p.Glu157Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Glu396Ter Single submitter Ellis-van Creveld syndrome
  • p.Glu508Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Glu628Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Glu685fs Single submitter Ellis-van Creveld syndrome
  • p.Glu789fs Single submitter Ellis-van Creveld syndrome
  • p.Glu792Ter Single submitter EVC2-related disorders
  • p.Glu951Ter Single submitter Ellis-van Creveld syndrome
  • p.Glu960Ter Single submitter Ellis-van Creveld syndrome
  • p.Gly251fs Single submitter Ellis-van Creveld syndrome
  • p.Gly488fs Single submitter Ellis-van Creveld syndrome
  • p.Gly504fs Single submitter Ellis-van Creveld syndrome
  • p.His419fs Single submitter acrofacial dysostosis, Weyers type
  • p.His708fs Single submitter Ellis-van Creveld syndrome
  • p.Ile1057fs Single submitter Ellis-van Creveld syndrome
  • p.Ile146fs Single submitter Ellis-van Creveld syndrome
  • p.Leu127Ter Single submitter Ellis-van Creveld syndrome
  • p.Leu259fs Single submitter Ellis-van Creveld syndrome
  • p.Leu438fs Single submitter Ellis-van Creveld syndrome
  • p.Leu438Ter Single submitter Ellis-van Creveld syndrome
  • p.Leu667fs Single submitter Ellis-van Creveld syndrome
  • p.Leu948fs Single submitter Ellis-van Creveld syndrome
  • p.Lys106Ter Single submitter Ellis-van Creveld syndrome
  • p.Lys560fs Single submitter Ellis-van Creveld syndrome
  • p.Lys913Ter Single submitter Ellis-van Creveld syndrome
  • p.Lys922Ter Single submitter Ellis-van Creveld syndrome
  • p.Met1Ile Single submitter acrofacial dysostosis, Weyers type
  • p.Phe306fs Single submitter Ellis-van Creveld syndrome
  • p.Phe532fs Single submitter acrofacial dysostosis, Weyers type
  • p.Ser416fs Single submitter acrofacial dysostosis, Weyers type
  • p.Ser421fs Single submitter Ellis-van Creveld syndrome
  • p.Ser983fs Single submitter acrofacial dysostosis, Weyers type
  • p.Thr1138fs Single submitter Ellis-van Creveld syndrome
  • p.Thr213fs Single submitter Ellis-van Creveld syndrome
  • p.Thr247fs Single submitter EVC2-related disorders
  • p.Thr740fs Single submitter Ellis-van Creveld syndrome
  • p.Trp12Ter Single submitter acrofacial dysostosis, Weyers type
  • p.Tyr323Ter Single submitter
  • p.Val289fs Single submitter
  • p.Val321fs Single submitter Ellis-van Creveld syndrome
  • p.Val431fs Single submitter Ellis-van Creveld syndrome
  • p.Val86fs Single submitter Ellis-van Creveld syndrome
  • c.1471-1G>C No assertion criteria Ellis-van Creveld syndrome
  • c.1887-1G>A No assertion criteria Ellis-van Creveld syndrome
  • c.2830-1G>A No assertion criteria Ellis-van Creveld syndrome
  • c.3057+1G>A No assertion criteria Ellis-van Creveld syndrome
  • c.3058-2A>G No assertion criteria Ellis-van Creveld syndrome
  • c.3660-2A>G No assertion criteria Ellis-van Creveld syndrome
  • c.450+1del No assertion criteria Ellis-van Creveld syndrome
  • c.450+1G>A No assertion criteria Ellis-van Creveld syndrome
  • p.Ala391fs No assertion criteria Ellis-van Creveld syndrome
  • p.Asp893fs No assertion criteria EVC2-related disorder
  • p.Gly552fs No assertion criteria Ellis-van Creveld syndrome
  • p.Trp1191Ter No assertion criteria EVC2-related disorder

Conflicting classifications of pathogenicity 68

  • c.1005+3G>A Single submitter acrofacial dysostosis, Weyers type
  • c.1470+3A>T Single submitter Ellis-van Creveld syndrome
  • c.1471-6C>T Single submitter acrofacial dysostosis, Weyers type
  • c.1711-11_1711-10dup Single submitter Ellis-van Creveld syndrome
  • c.1886+11A>G Single submitter Ellis-van Creveld syndrome
  • c.2706+13T>C Single submitter Ellis-van Creveld syndrome
  • c.2707-9C>G Single submitter Ellis-van Creveld syndrome
  • c.2829+9A>C Single submitter Ellis-van Creveld syndrome
  • c.284-10T>G Single submitter Ellis-van Creveld syndrome
  • c.3272+7C>T Single submitter Ellis-van Creveld syndrome
  • c.450+17A>G Single submitter acrofacial dysostosis, Weyers type
  • c.451-15T>C Single submitter Ellis-van Creveld syndrome
  • c.706+13C>T Single submitter Ellis-van Creveld syndrome
  • c.*90C>T Single submitter Ellis-van Creveld syndrome
  • p.Ala1045Val Single submitter Ellis-van Creveld syndrome ⚠
  • p.Ala1137= Single submitter acrofacial dysostosis, Weyers type
  • p.Ala1170Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala1214fs Single submitter acrofacial dysostosis, Weyers type
  • p.Ala305Ser Single submitter Ellis-van Creveld syndrome ⚠
  • p.Ala523Ser Single submitter acrofacial dysostosis, Weyers type ⚠
  • p.Arg1186= Single submitter acrofacial dysostosis, Weyers type
  • p.Arg149His Single submitter Ellis-van Creveld syndrome ⚠
  • p.Arg184His Single submitter acrofacial dysostosis, Weyers type ⚠
  • p.Arg221Lys Single submitter Inborn genetic diseases ⚠
  • p.Arg390Gln Single submitter Ellis-van Creveld syndrome ⚠
  • p.Arg500= Single submitter Ellis-van Creveld syndrome
  • p.Arg608His Single submitter acrofacial dysostosis, Weyers type ⚠
  • p.Arg677= Single submitter Ellis-van Creveld syndrome
  • p.Arg955Gln Single submitter acrofacial dysostosis, Weyers type ⚠
  • p.Asn199= Single submitter Ellis-van Creveld syndrome
  • p.Asn255= Single submitter Ellis-van Creveld syndrome
  • p.Asn329Ser Single submitter Ellis-van Creveld syndrome ⚠
  • p.Asn361= Single submitter Ellis-van Creveld syndrome
  • p.Asp1181= Single submitter acrofacial dysostosis, Weyers type
  • p.Gln1034His Single submitter Inborn genetic diseases ⚠
  • p.Gln1097Glu Single submitter Inborn genetic diseases ⚠
  • p.Gly296Ala Single submitter acrofacial dysostosis, Weyers type ⚠
  • p.Gly374= Single submitter Ellis-van Creveld syndrome
  • p.Gly43= Single submitter Ellis-van Creveld syndrome
  • p.His780= Single submitter Ellis-van Creveld syndrome
  • p.Ile652Val Single submitter Inborn genetic diseases ⚠
  • p.Leu1105= Single submitter acrofacial dysostosis, Weyers type
  • p.Leu205= Single submitter acrofacial dysostosis, Weyers type
  • p.Leu31Pro Single submitter acrofacial dysostosis, Weyers type ⚠
  • p.Leu42= Single submitter acrofacial dysostosis, Weyers type
  • p.Leu499= Single submitter acrofacial dysostosis, Weyers type
  • p.Leu514Phe Single submitter acrofacial dysostosis, Weyers type ⚠
  • p.Leu920Phe Single submitter Inborn genetic diseases ⚠
  • p.Lys1279= Single submitter Ellis-van Creveld syndrome
  • p.Lys666= Single submitter Ellis-van Creveld syndrome
  • p.Met466Thr Single submitter Inborn genetic diseases ⚠
  • p.Met784Val Single submitter Inborn genetic diseases ⚠
  • p.Phe110Leu Single submitter Inborn genetic diseases ⚠
  • p.Phe302Ile Single submitter Ellis-van Creveld syndrome
  • p.Phe889= Single submitter Ellis-van Creveld syndrome
  • p.Ser1079= Single submitter Ellis-van Creveld syndrome
  • p.Ser1144Asn Single submitter Ellis-van Creveld syndrome ⚠
  • p.Ser177Leu Single submitter acrofacial dysostosis, Weyers type ⚠
  • p.Ser230Arg Single submitter Ellis-van Creveld syndrome ⚠
  • p.Ser403Asn Single submitter Inborn genetic diseases ⚠
  • p.Ser6= Single submitter acrofacial dysostosis, Weyers type
  • p.Ser839= Single submitter acrofacial dysostosis, Weyers type
  • p.Ser966Leu Single submitter acrofacial dysostosis, Weyers type ⚠
  • p.Thr455Arg Single submitter Ellis-van Creveld syndrome ⚠
  • p.Thr748= Single submitter acrofacial dysostosis, Weyers type
  • p.Thr882Ala Single submitter Inborn genetic diseases ⚠
  • p.Trp770Cys Single submitter acrofacial dysostosis, Weyers type ⚠
  • p.Val1287Ile Single submitter Ellis-van Creveld syndrome ⚠

Benign 107

Benign/Likely benign 46

  • c.1471-7T>C Multiple submitters acrofacial dysostosis, Weyers type
  • c.1710+16C>T Multiple submitters Ellis-van Creveld syndrome
  • c.1711-10del Multiple submitters Ellis-van Creveld syndrome
  • c.1711-11_1711-10del Multiple submitters acrofacial dysostosis, Weyers type
  • c.1711-12_1711-10dup Multiple submitters acrofacial dysostosis, Weyers type
  • c.1711-20dup Multiple submitters Ellis-van Creveld syndrome
  • c.2047-9A>T Multiple submitters Ellis-van Creveld syndrome
  • c.2707-13A>T Multiple submitters acrofacial dysostosis, Weyers type
  • c.3272+8G>A Multiple submitters acrofacial dysostosis, Weyers type
  • c.3272+8G>C Multiple submitters acrofacial dysostosis, Weyers type
  • c.3361-89C>A Multiple submitters
  • c.3557+10G>A Multiple submitters acrofacial dysostosis, Weyers type
  • c.3659+8T>C Multiple submitters Ellis-van Creveld syndrome
  • c.451-16_451-15del Multiple submitters Ellis-van Creveld syndrome
  • c.707-4G>A Multiple submitters acrofacial dysostosis, Weyers type
  • c.-15G>A Multiple submitters
  • p.Ala1125= Multiple submitters Ellis-van Creveld syndrome
  • p.Ala408= Multiple submitters Ellis-van Creveld syndrome
  • p.Ala867= Multiple submitters Ellis-van Creveld syndrome
  • p.Ala883Val Multiple submitters Ellis-van Creveld syndrome
  • p.Arg272Trp Multiple submitters acrofacial dysostosis, Weyers type
  • p.Arg874Gln Multiple submitters acrofacial dysostosis, Weyers type
  • p.Arg955Trp Multiple submitters Ellis-van Creveld syndrome
  • p.Asn288= Multiple submitters acrofacial dysostosis, Weyers type
  • p.Asp799His Multiple submitters Ellis-van Creveld syndrome
  • p.Glu628Lys Multiple submitters acrofacial dysostosis, Weyers type
  • p.Glu726= Multiple submitters acrofacial dysostosis, Weyers type
  • p.Glu829= Multiple submitters Ellis-van Creveld syndrome
  • p.Gly225= Multiple submitters Ellis-van Creveld syndrome
  • p.Gly961= Multiple submitters acrofacial dysostosis, Weyers type
  • p.His717= Multiple submitters Ellis-van Creveld syndrome
  • p.Lys1187= Multiple submitters acrofacial dysostosis, Weyers type
  • p.Met577Thr Multiple submitters Ellis-van Creveld syndrome ⚠
  • p.Pro347Leu Multiple submitters Ellis-van Creveld syndrome
  • p.Pro41His Multiple submitters acrofacial dysostosis, Weyers type
  • p.Ser1008= Multiple submitters acrofacial dysostosis, Weyers type
  • p.Ser1008Leu Multiple submitters acrofacial dysostosis, Weyers type
  • p.Ser1046Arg Multiple submitters acrofacial dysostosis, Weyers type
  • p.Ser230Gly Multiple submitters Ellis-van Creveld syndrome
  • p.Ser429= Multiple submitters acrofacial dysostosis, Weyers type
  • p.Thr1138Met Multiple submitters Ellis-van Creveld syndrome
  • p.Thr462Ala Multiple submitters acrofacial dysostosis, Weyers type
  • p.Thr615= Multiple submitters Ellis-van Creveld syndrome
  • p.Thr699Ala Multiple submitters Ellis-van Creveld syndrome
  • p.Tyr447= Multiple submitters acrofacial dysostosis, Weyers type
  • p.Val693Ile Multiple submitters Ellis-van Creveld syndrome

Likely benign 935

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

Uncertain significance 641

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