EVC — 1971 ClinVar variants

All ClinVar germline EVC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 455 flagged for review →

114 Pathogenic · 45 Pathogenic/Likely pathogenic · 137 Likely pathogenic · 101 Conflicting · 156 Benign · 27 Benign/Likely benign · 834 Likely benign · 557 Uncertain significance

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

⚑ Evidence disagreements 455

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

Predictors vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

EVC p.Ser206Asn Pathogenic/Likely pathogenic Multiple submitters
EVC-related disorder
EVC p.Leu257Gln Likely pathogenic Single submitter

Predictors agree, ClinVar conflicts 60

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

EVC p.Ala197Ser Conflicting Single submitter
Inborn genetic diseases
EVC p.Ala26Val Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Ala29Val Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Ala31Thr Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Ala368Thr Conflicting Single submitter
Inborn genetic diseases
EVC p.Ala36Gly Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Ala450Val Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Ala566Thr Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Ala655Thr Conflicting Single submitter
Inborn genetic diseases
EVC p.Ala701Val Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Ala73Val Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Ala784Thr Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Ala881Ser Conflicting Single submitter
Inborn genetic diseases
EVC p.Arg190Leu Conflicting Single submitter
Inborn genetic diseases
EVC p.Arg3Pro Conflicting Single submitter
Inborn genetic diseases
EVC p.Arg52Cys Conflicting Single submitter
Inborn genetic diseases
EVC p.Arg609Gln Conflicting Single submitter
Inborn genetic diseases
EVC p.Arg617His Conflicting Single submitter
Inborn genetic diseases
EVC p.Arg643His Conflicting Single submitter
Inborn genetic diseases
EVC p.Arg647Gln Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Arg753Gln Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Arg760Trp Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Asn573Asp Conflicting Single submitter
Inborn genetic diseases
EVC p.Asn833Asp Conflicting Single submitter
Inborn genetic diseases
EVC p.Asp184Asn Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Asp246Tyr Conflicting Single submitter
Inborn genetic diseases
EVC p.Asp312Asn Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Gln579His Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Glu457Lys Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Glu488Lys Conflicting Single submitter
Inborn genetic diseases
EVC p.Glu514Lys Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Glu553Asp Conflicting Single submitter
Inborn genetic diseases
EVC p.Glu681Lys Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Glu711Gly Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Gly403Ser Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Gly5Val Conflicting Single submitter
Inborn genetic diseases
EVC p.Gly618Ser Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Gly653Ser Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Gly957Arg Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Gly977Glu Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.His875Leu Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Ile903Val Conflicting Single submitter
Inborn genetic diseases
EVC p.Leu310Val Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Leu499Val Conflicting Single submitter
Inborn genetic diseases
EVC p.Leu538Val Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Leu920Trp Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Lys758Asn Conflicting Single submitter
Inborn genetic diseases
EVC p.Met234Val Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Met500Ile Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Phe525Cys Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Pro157Ala Conflicting Single submitter
Inborn genetic diseases
EVC p.Pro30Leu Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Ser759Asn Conflicting Single submitter
Inborn genetic diseases
EVC p.Ser77Leu Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Thr295Ser Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Thr631Met Conflicting Single submitter
acrofacial dysostosis, Weyers type
EVC p.Thr660Met Conflicting Single submitter
Inborn genetic diseases
EVC p.Thr840Met Conflicting Single submitter
Inborn genetic diseases
EVC p.Val441Ile Conflicting Single submitter
Inborn genetic diseases
EVC p.Val510Ile Conflicting Single submitter
Ellis-van Creveld syndrome

Predictors lean, ClinVar uncertain 357

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 357

EVC p.Ala20Pro Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Ala24Ser Uncertain significance Multiple submitters
EVC-related disorder
EVC p.Ala365Asp Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Ala365Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Ala565Thr Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Ala743Thr Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Ala915Pro Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Arg18Leu Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Arg194Trp Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Arg22Pro Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Arg340Gln Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Arg375Gln Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Arg396Gln Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Arg396Trp Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Arg416Gln Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Arg435Cys Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Arg438Trp Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Arg576Leu Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Arg609Trp Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Arg622Gln Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Arg647Pro Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Arg647Trp Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Arg652His Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Arg702Gly Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Arg702His Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Arg709Gln Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Arg718Trp Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Arg724Trp Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Arg753Trp Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Arg839Lys Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Arg873His Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Arg911Gln Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Arg924Cys Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Asn822Asp Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Asp359Asn Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Asp885Gly Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Asp953Val Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Asp978Asn Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Asp978Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Gln364Arg Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Gln589Glu Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Gln636Arg Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Gln715Glu Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Glu154Gly Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Glu420Lys Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Glu488Gly Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Glu507Gly Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Glu508Gly Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Glu705Gly Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Glu712Lys Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Gly167Ser Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Gly17Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Gly415Arg Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Gly798Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Gly842Asp Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.His233Arg Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.His607Gln Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Ile744Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Leu228Val Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Leu245His Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Leu42Ile Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Leu46Phe Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Leu494Pro Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Leu582Val Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Leu670His Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Leu809Arg Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Leu914Phe Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Lys860Asn Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Lys918Glu Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Met285Val Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Pro152Leu Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Pro483Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Pro551Arg Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Pro551Leu Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Pro834Ser Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Ser286Trp Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Ser307Cys Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Thr226Met Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Thr423Met Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Thr463Arg Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Thr542Met Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Tyr293Cys Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Val209Ile Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Val593Met Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Val603Met Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Val781Met Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Val790Met Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Ala114Ser Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala12Pro Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Ala146Gly Uncertain significance Single submitter
acrofacial dysostosis, Weyers type
EVC p.Ala26Ser Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Ala352Val Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala353Val Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala368Ser Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala36Thr Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala408Ser Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala428Thr Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala428Val Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Ala433Ser Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala453Gly Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala460Ser Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala460Val Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Ala481Pro Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Ala650Val Uncertain significance Single submitter
acrofacial dysostosis, Weyers type
EVC p.Ala657Pro Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala679Val Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala6Pro Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala701Ser Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala755Val Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Ala774Val Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Ala784Ser Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Ala792Val Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Ala7Val Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala841Val Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Ala844Thr Uncertain significance Single submitter
acrofacial dysostosis, Weyers type
EVC p.Ala850Val Uncertain significance Single submitter
acrofacial dysostosis, Weyers type
EVC p.Ala876Val Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Ala955Ser Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Ala976Val Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Arg13Gly Uncertain significance Single submitter
EVC p.Arg18Trp Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Arg190Cys Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Arg190His Uncertain significance Single submitter
EVC p.Arg194Gln Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Arg194Pro Uncertain significance Single submitter
acrofacial dysostosis, Weyers type
EVC p.Arg340Pro Uncertain significance Single submitter
acrofacial dysostosis, Weyers type
EVC p.Arg375Trp Uncertain significance Single submitter
acrofacial dysostosis, Weyers type
EVC p.Arg394Gly Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Arg416Leu Uncertain significance Single submitter
EVC p.Arg49Gly Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Arg52Gly Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Arg558Lys Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Arg558Met Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Arg574Cys Uncertain significance Single submitter
EVC p.Arg574Gly Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Arg576Trp Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Arg632Gln Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Arg632Trp Uncertain significance Single submitter
acrofacial dysostosis, Weyers type
EVC p.Arg648Gly Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Arg652Cys Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Arg663Trp Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Arg675Trp Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Arg678Cys Uncertain significance Single submitter
EVC p.Arg678His Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Arg718Gly Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Arg799Gly Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Arg826Trp Uncertain significance Single submitter
acrofacial dysostosis, Weyers type
EVC p.Arg839Trp Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Arg85Ser Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Arg873Cys Uncertain significance Single submitter
acrofacial dysostosis, Weyers type

Predictors split 36

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

EVC p.Ala114Thr Uncertain significance Multiple submitters
acrofacial dysostosis, Weyers type
EVC p.Ala114Val Benign/Likely benign Multiple submitters
Ellis-van Creveld syndrome
EVC p.Ala368Pro Uncertain significance Multiple submitters
EVC-related disorder
EVC p.Asn313Lys Uncertain significance Multiple submitters
EVC-related disorder
EVC p.His233Pro Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Phe440Leu Benign/Likely benign Multiple submitters
Ellis-van Creveld syndrome
EVC p.Pro137Thr Uncertain significance Multiple submitters
Inborn genetic diseases
EVC p.Ser360Pro Uncertain significance Multiple submitters
Ellis-van Creveld syndrome
EVC p.Ala566Pro Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Arg371Ser Uncertain significance Single submitter
EVC p.Arg632Pro Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Arg663Pro Uncertain significance Single submitter
acrofacial dysostosis, Weyers type
EVC p.Arg702Cys Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Arg709Pro Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Asp446Tyr Uncertain significance Single submitter
acrofacial dysostosis, Weyers type
EVC p.Gln501Pro Uncertain significance Single submitter
EVC p.Gln636Pro Uncertain significance Single submitter
EVC p.Ile261Thr Uncertain significance Single submitter
EVC p.Leu276Arg Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Leu28Met Uncertain significance Single submitter
EVC p.Leu328Phe Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Leu699Pro Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Leu771Met Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Leu891Val Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Lys126Met Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Lys808Asn Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Met350Ile Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Phe486Leu Uncertain significance Single submitter
EVC p.Phe531Leu Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Pro122Ser Conflicting Single submitter
Ellis-van Creveld syndrome
EVC p.Pro137Leu Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Pro544Leu Uncertain significance Single submitter
Ellis-van Creveld syndrome
EVC p.Val912Glu Uncertain significance Single submitter
Inborn genetic diseases
EVC p.Gln425His Uncertain significance No assertion criteria
Ellis-van Creveld syndrome
EVC p.Pro137Ser Uncertain significance No assertion criteria
Ellis-van Creveld syndrome
EVC p.Thr757Pro Uncertain significance No assertion criteria
Ellis-van Creveld syndrome

All EVC variants

Pathogenic 114

c.1783_1886+40del Multiple submitters Ellis-van Creveld syndrome
c.1886+5G>A Multiple submitters Ellis-van Creveld syndrome
c.2782+1del Multiple submitters acrofacial dysostosis, Weyers type
c.618-2A>G Multiple submitters acrofacial dysostosis, Weyers type
p.Ala565fs Multiple submitters acrofacial dysostosis, Weyers type
p.Arg13fs Multiple submitters Ellis-van Creveld syndrome
p.Arg443Ter Multiple submitters Ellis-van Creveld syndrome
p.Asn68fs Multiple submitters Ellis-van Creveld syndrome
p.Gln501Ter Multiple submitters acrofacial dysostosis, Weyers type
p.Gln562Ter Multiple submitters Ellis-van Creveld syndrome
p.Gln672Ter Multiple submitters Ellis-van Creveld syndrome
p.Glu292Ter Multiple submitters Ellis-van Creveld syndrome
p.Glu308fs Multiple submitters Ellis-van Creveld syndrome
p.Glu354Ter Multiple submitters acrofacial dysostosis, Weyers type
p.Gly458fs Multiple submitters acrofacial dysostosis, Weyers type
p.Leu346fs Multiple submitters Ellis-van Creveld syndrome
p.Lys252fs Multiple submitters acrofacial dysostosis, Weyers type
p.Phe473fs Multiple submitters acrofacial dysostosis, Weyers type
p.Ser177fs Multiple submitters Ellis-van Creveld syndrome
p.Ser253Ter Multiple submitters Ellis-van Creveld syndrome
p.Tyr121Ter Multiple submitters acrofacial dysostosis, Weyers type
c.174+1G>T Single submitter Ellis-van Creveld syndrome
c.1777-2A>C Single submitter acrofacial dysostosis, Weyers type
c.2561+1dup Single submitter acrofacial dysostosis, Weyers type
c.2561+1G>A Single submitter Ellis-van Creveld syndrome
c.2782+2T>C Single submitter Ellis-van Creveld syndrome
p.Ala114fs Single submitter Ellis-van Creveld syndrome
p.Ala31fs Single submitter acrofacial dysostosis, Weyers type
p.Ala489fs Single submitter acrofacial dysostosis, Weyers type
p.Ala6fs Single submitter Ellis-van Creveld syndrome
p.Ala7_Cys8insTer Single submitter acrofacial dysostosis, Weyers type
p.Arg190fs Single submitter acrofacial dysostosis, Weyers type
p.Arg194_Val195insTer Single submitter acrofacial dysostosis, Weyers type
p.Arg349fs Single submitter acrofacial dysostosis, Weyers type
p.Arg375fs Single submitter Ellis-van Creveld syndrome
p.Arg438fs Single submitter Ellis-van Creveld syndrome
p.Arg471fs Single submitter acrofacial dysostosis, Weyers type
p.Arg498fs Single submitter acrofacial dysostosis, Weyers type
p.Arg52fs Single submitter Ellis-van Creveld syndrome
p.Arg622Ter Single submitter acrofacial dysostosis, Weyers type
p.Arg697fs Single submitter acrofacial dysostosis, Weyers type
p.Asn124fs Single submitter Ellis-van Creveld syndrome
p.Asp225fs Single submitter Ellis-van Creveld syndrome
p.Asp290_Ser291insTer Single submitter Ellis-van Creveld syndrome
p.Cys204Ter Single submitter acrofacial dysostosis, Weyers type
p.Cys212fs Single submitter Ellis-van Creveld syndrome
p.Gln277Ter Single submitter Ellis-van Creveld syndrome
p.Gln320Ter Single submitter Ellis-van Creveld syndrome
p.Gln325Ter Single submitter acrofacial dysostosis, Weyers type
p.Gln442Ter Single submitter acrofacial dysostosis, Weyers type
p.Gln497Ter Single submitter acrofacial dysostosis, Weyers type
p.Gln53Ter Single submitter Ellis-van Creveld syndrome
p.Gln63fs Single submitter acrofacial dysostosis, Weyers type
p.Gln677Ter Single submitter Ellis-van Creveld syndrome
p.Gln716fs Single submitter acrofacial dysostosis, Weyers type
p.Gln716Ter Single submitter acrofacial dysostosis, Weyers type
p.Gln723Ter Single submitter acrofacial dysostosis, Weyers type
p.Gln878_Gln879delinsHisTer Single submitter Ellis-van Creveld syndrome
p.Gln896Ter Single submitter acrofacial dysostosis, Weyers type
p.Gln900Ter Single submitter Ellis-van Creveld syndrome
p.Glu205Ter Single submitter Ellis-van Creveld syndrome
p.Glu354fs Single submitter acrofacial dysostosis, Weyers type
p.Glu362fs Single submitter acrofacial dysostosis, Weyers type
p.Glu362Ter Single submitter acrofacial dysostosis, Weyers type
p.Glu410Ter Single submitter acrofacial dysostosis, Weyers type
p.Glu488Ter Single submitter Ellis-van Creveld syndrome
p.Glu514fs Single submitter Ellis-van Creveld syndrome
p.Glu553Ter Single submitter Ellis-van Creveld syndrome
p.Glu563Ter Single submitter Ellis-van Creveld syndrome
p.Glu629fs Single submitter Ellis-van Creveld syndrome
p.Glu700Ter Single submitter acrofacial dysostosis, Weyers type
p.Glu711fs Single submitter acrofacial dysostosis, Weyers type
p.Glu830Ter Single submitter Ellis-van Creveld syndrome
p.Glu888Ter Single submitter acrofacial dysostosis, Weyers type
p.Glu89fs Single submitter Ellis-van Creveld syndrome
p.His607fs Single submitter Ellis-van Creveld syndrome
p.Ile237fs Single submitter acrofacial dysostosis, Weyers type
p.Ile800fs Single submitter acrofacial dysostosis, Weyers type
p.Leu139fs Single submitter
p.Leu262fs Single submitter Ellis-van Creveld syndrome
p.Leu44fs Single submitter acrofacial dysostosis, Weyers type
p.Leu789fs Single submitter acrofacial dysostosis, Weyers type
p.Leu815fs Single submitter Ellis-van Creveld syndrome
p.Leu825fs Single submitter Ellis-van Creveld syndrome
p.Lys241delinsPhePhePhePhePhePheXaaXaaXaaXaaSerTer Single submitter Ellis-van Creveld syndrome
p.Lys241Ter Single submitter acrofacial dysostosis, Weyers type
p.Lys301fs Single submitter Ellis-van Creveld syndrome
p.Lys412fs Single submitter acrofacial dysostosis, Weyers type
p.Lys485fs Single submitter acrofacial dysostosis, Weyers type
p.Lys96Ter Single submitter Ellis-van Creveld syndrome
p.Met242fs Single submitter Ellis-van Creveld syndrome
p.Met820fs Single submitter Ellis-van Creveld syndrome
p.Phe902fs Single submitter Ellis-van Creveld syndrome
p.Pro199fs Single submitter acrofacial dysostosis, Weyers type
p.Pro25fs Single submitter acrofacial dysostosis, Weyers type
p.Pro551fs Single submitter Ellis-van Creveld syndrome
p.Ser160fs Single submitter Ellis-van Creveld syndrome
p.Ser263Ter Single submitter Ellis-van Creveld syndrome
p.Ser472fs Single submitter Ellis-van Creveld syndrome
p.Ser81fs Single submitter Ellis-van Creveld syndrome
p.Ser83Ter Single submitter acrofacial dysostosis, Weyers type
p.Thr449fs Single submitter Ellis-van Creveld syndrome
p.Thr840fs Single submitter acrofacial dysostosis, Weyers type
p.Trp430_Gln431delinsTer Single submitter acrofacial dysostosis, Weyers type
p.Trp594Ter Single submitter Ellis-van Creveld syndrome
p.Tyr214Ter Single submitter Ellis-van Creveld syndrome
p.Tyr524Ter Single submitter Ellis-van Creveld syndrome
p.Tyr793fs Single submitter Ellis-van Creveld syndrome
p.Tyr793Ter Single submitter Ellis-van Creveld syndrome
p.Tyr794Ter Single submitter acrofacial dysostosis, Weyers type
p.Val634fs Single submitter Ellis-van Creveld syndrome
p.Asp246fs No assertion criteria Ellis-van Creveld syndrome
p.Glu777Ter No assertion criteria
p.Leu519fs No assertion criteria Ellis-van Creveld syndrome

Pathogenic/Likely pathogenic 45

c.1098+1G>A Multiple submitters Ellis-van Creveld syndrome
c.175-2A>G Multiple submitters Ellis-van Creveld syndrome
c.1777-1G>A Multiple submitters acrofacial dysostosis, Weyers type
c.1777-2A>G Multiple submitters acrofacial dysostosis, Weyers type
c.1886+5G>T Multiple submitters Ellis-van Creveld syndrome
c.1887-5_1904del Multiple submitters EVC-related disorder
c.2304+2T>C Multiple submitters acrofacial dysostosis, Weyers type
c.2782+1G>T Multiple submitters acrofacial dysostosis, Weyers type
c.2894+3A>G Multiple submitters Ellis-van Creveld syndrome
c.384+5G>C Multiple submitters EVC-related disorder
c.618-1G>A Multiple submitters acrofacial dysostosis, Weyers type
c.801+1G>T Multiple submitters acrofacial dysostosis, Weyers type
p.Arg304fs Multiple submitters EVC-related disorder
p.Arg340Ter Multiple submitters EVC-related disorder
p.Arg911Ter Multiple submitters Ellis-van Creveld syndrome
p.Asp132fs Multiple submitters acrofacial dysostosis, Weyers type
p.Cys554_Asp555delinsTer Multiple submitters acrofacial dysostosis, Weyers type
p.Gln341Ter Multiple submitters acrofacial dysostosis, Weyers type
p.Gln390Ter Multiple submitters EVC-related disorder
p.Gln424fs Multiple submitters acrofacial dysostosis, Weyers type
p.Gln584fs Multiple submitters Ellis-van Creveld syndrome
p.Gln722Ter Multiple submitters acrofacial dysostosis, Weyers type
p.Gln746Ter Multiple submitters acrofacial dysostosis, Weyers type
p.Gln816Ter Multiple submitters Ellis-van Creveld syndrome
p.Gln849Ter Multiple submitters acrofacial dysostosis, Weyers type
p.Gln879Ter Multiple submitters EVC-related disorder
p.Glu420fs Multiple submitters Ellis-van Creveld syndrome
p.Glu552fs Multiple submitters acrofacial dysostosis, Weyers type
p.Glu560Ter Multiple submitters Ellis-van Creveld syndrome
p.Glu731Ter Multiple submitters Ellis-van Creveld syndrome
p.His233fs Multiple submitters Ellis-van Creveld syndrome
p.Leu218Ter Multiple submitters Ellis-van Creveld syndrome
p.Leu540fs Multiple submitters acrofacial dysostosis, Weyers type
p.Lys302del Multiple submitters Ellis-van Creveld syndrome
p.Met1Leu Multiple submitters acrofacial dysostosis, Weyers type
p.Phe583fs Multiple submitters acrofacial dysostosis, Weyers type
p.Ser180Ter Multiple submitters acrofacial dysostosis, Weyers type
p.Ser206Asn Multiple submitters EVC-related disorder ⚠
p.Ser307Pro Multiple submitters EVC-related disorder
p.Thr463fs Multiple submitters acrofacial dysostosis, Weyers type
p.Thr658fs Multiple submitters EVC-related disorder
p.Trp693Ter Multiple submitters Ellis-van Creveld syndrome
p.Tyr258Ter Multiple submitters Ellis-van Creveld syndrome
p.Tyr556Ter Multiple submitters acrofacial dysostosis, Weyers type
p.Gln605Ter No assertion criteria Ellis-van Creveld syndrome

Likely pathogenic 137

c.1886+1G>C Multiple submitters Ellis-van Creveld syndrome
c.301-1G>A Multiple submitters acrofacial dysostosis, Weyers type
c.384+1G>T Multiple submitters acrofacial dysostosis, Weyers type
c.617+1G>A Multiple submitters Ellis-van Creveld syndrome
c.802-2A>G Multiple submitters Ellis-van Creveld syndrome
c.939+1G>A Multiple submitters Ellis-van Creveld syndrome
c.940-150T>G Multiple submitters Ellis-van Creveld syndrome
c.940-1G>A Multiple submitters Ellis-van Creveld syndrome
p.Leu620_Leu626del Multiple submitters acrofacial dysostosis, Weyers type
p.Met1_Ala7del Multiple submitters Ellis-van Creveld syndrome
p.Met1Lys Multiple submitters Ellis-van Creveld syndrome
c.1099-1G>A Single submitter Ellis-van Creveld syndrome
c.1099-2A>C Single submitter Ellis-van Creveld syndrome
c.1136_1563+515del Single submitter Ellis-van Creveld syndrome
c.1316-7A>G Single submitter acrofacial dysostosis, Weyers type
c.1465-1G>A Single submitter Ellis-van Creveld syndrome
c.1465-3_1472del Single submitter Ellis-van Creveld syndrome
c.153_174+42del Single submitter Ellis-van Creveld syndrome
c.1563+1G>A Single submitter Ellis-van Creveld syndrome
c.1563+1G>C Single submitter Ellis-van Creveld syndrome
c.175-1G>A Single submitter Ellis-van Creveld syndrome
c.175-1G>C Single submitter Ellis-van Creveld syndrome
c.1776+2T>C Single submitter Ellis-van Creveld syndrome
c.1886+2T>G Single submitter Ellis-van Creveld syndrome
c.1887-2A>T Single submitter Ellis-van Creveld syndrome
c.2097+1G>A Single submitter Ellis-van Creveld syndrome
c.2097+1G>T Single submitter acrofacial dysostosis, Weyers type
c.2097+2del Single submitter Ellis-van Creveld syndrome
c.2098-1G>A Single submitter acrofacial dysostosis, Weyers type
c.2098-1G>C Single submitter Ellis-van Creveld syndrome
c.2098-2A>G Single submitter acrofacial dysostosis, Weyers type
c.2449+2T>C Single submitter Ellis-van Creveld syndrome
c.2450-1G>A Single submitter EVC-related disorder
c.2562-2A>G Single submitter Ellis-van Creveld syndrome
c.2562-3_2584del Single submitter acrofacial dysostosis, Weyers type
c.2677_2688+7del Single submitter acrofacial dysostosis, Weyers type
c.2688+1G>A Single submitter Ellis-van Creveld syndrome
c.2688+1G>C Single submitter acrofacial dysostosis, Weyers type
c.2688+2T>G Single submitter acrofacial dysostosis, Weyers type
c.2689-7_2693del Single submitter Ellis-van Creveld syndrome
c.300+1G>T Single submitter acrofacial dysostosis, Weyers type
c.384+1del Single submitter Ellis-van Creveld syndrome
c.385-1G>A Single submitter Ellis-van Creveld syndrome
c.56_174+42del Single submitter Ellis-van Creveld syndrome
c.617+2T>A Single submitter Ellis-van Creveld syndrome
c.703-1G>C Single submitter acrofacial dysostosis, Weyers type
c.801+2T>C Single submitter acrofacial dysostosis, Weyers type
p.Ala2fs Single submitter Ellis-van Creveld syndrome
p.Arg18fs Single submitter Ellis-van Creveld syndrome
p.Arg22fs Single submitter Ellis-van Creveld syndrome
p.Arg56Ter Single submitter Ellis-van Creveld syndrome
p.Arg577fs Single submitter Ellis-van Creveld syndrome
p.Arg935fs Single submitter Ellis-van Creveld syndrome
p.Asn196Ter Single submitter acrofacial dysostosis, Weyers type
p.Asp19fs Single submitter Ellis-van Creveld syndrome
p.Asp268fs Single submitter Ellis-van Creveld syndrome
p.Cys212Ter Single submitter Ellis-van Creveld syndrome
p.Cys334fs Single submitter Ellis-van Creveld syndrome
p.Gln166Ter Single submitter Ellis-van Creveld syndrome
p.Gln361fs Single submitter Ellis-van Creveld syndrome
p.Gln425Ter Single submitter Ellis-van Creveld syndrome
p.Gln455Ter Single submitter Ellis-van Creveld syndrome
p.Gln470fs Single submitter Ellis-van Creveld syndrome
p.Gln470Ter Single submitter Ellis-van Creveld syndrome
p.Gln541fs Single submitter Ellis-van Creveld syndrome
p.Gln578Ter Single submitter Ellis-van Creveld syndrome
p.Gln589fs Single submitter Ellis-van Creveld syndrome
p.Gln58Ter Single submitter
p.Gln591Ter Single submitter
p.Gln661Ter Single submitter acrofacial dysostosis, Weyers type
p.Gln715fs Single submitter acrofacial dysostosis, Weyers type
p.Gln720Ter Single submitter
p.Gln730Ter Single submitter Ellis-van Creveld syndrome
p.Gln74Ter Single submitter acrofacial dysostosis, Weyers type
p.Gln795Ter Single submitter Ellis-van Creveld syndrome
p.Gln890fs Single submitter Ellis-van Creveld syndrome
p.Gln91Ter Single submitter Ellis-van Creveld syndrome
p.Glu383fs Single submitter Ellis-van Creveld syndrome
p.Glu405fs Single submitter Ellis-van Creveld syndrome
p.Glu628fs Single submitter Ellis-van Creveld syndrome
p.Glu676Ter Single submitter Ellis-van Creveld syndrome
p.Glu681Ter Single submitter Ellis-van Creveld syndrome
p.Glu70Ter Single submitter Ellis-van Creveld syndrome
p.Glu806fs Single submitter
p.Glu899Ter Single submitter acrofacial dysostosis, Weyers type
p.Gly17fs Single submitter Ellis-van Creveld syndrome
p.Gly4fs Single submitter Ellis-van Creveld syndrome
p.Gly5fs Single submitter Ellis-van Creveld syndrome
p.His217fs Single submitter Ellis-van Creveld syndrome
p.His377fs Single submitter Ellis-van Creveld syndrome
p.His454fs Single submitter Ellis-van Creveld syndrome
p.His638fs Single submitter Ellis-van Creveld syndrome
p.Leu14fs Single submitter Ellis-van Creveld syndrome
p.Leu15fs Single submitter Ellis-van Creveld syndrome
p.Leu161fs Single submitter Ellis-van Creveld syndrome
p.Leu21fs Single submitter Ellis-van Creveld syndrome
p.Leu257Gln Single submitter ⚠
p.Leu296fs Single submitter EVC-related disorder
p.Leu357fs Single submitter Ellis-van Creveld syndrome
p.Leu387fs Single submitter Ellis-van Creveld syndrome
p.Leu920fs Single submitter Ellis-van Creveld syndrome
p.Leu964fs Single submitter acrofacial dysostosis, Weyers type
p.Lys571fs Single submitter Ellis-van Creveld syndrome
p.Lys813fs Single submitter Ellis-van Creveld syndrome
p.Lys918Ter Single submitter Ellis-van Creveld syndrome
p.Lys9fs Single submitter Ellis-van Creveld syndrome
p.Met1Thr Single submitter acrofacial dysostosis, Weyers type
p.Met1Val Single submitter Ellis-van Creveld syndrome
p.Phe236fs Single submitter Ellis-van Creveld syndrome
p.Phe429fs Single submitter Ellis-van Creveld syndrome
p.Phe436fs Single submitter Ellis-van Creveld syndrome
p.Phe525fs Single submitter Ellis-van Creveld syndrome
p.Pro249fs Single submitter Ellis-van Creveld syndrome
p.Ser10fs Single submitter Ellis-van Creveld syndrome
p.Ser215fs Single submitter
p.Ser263fs Single submitter Ellis-van Creveld syndrome
p.Ser281fs Single submitter Ellis-van Creveld syndrome
p.Ser286Ter Single submitter Ellis-van Creveld syndrome
p.Ser572Ter Single submitter Ellis-van Creveld syndrome
p.Ser602fs Single submitter Ellis-van Creveld syndrome
p.Ser77fs Single submitter Ellis-van Creveld syndrome
p.Thr372fs Single submitter Ellis-van Creveld syndrome
p.Thr75fs Single submitter Ellis-van Creveld syndrome
p.Trp430Ter Single submitter Ellis-van Creveld syndrome
p.Trp45Ter Single submitter Ellis-van Creveld syndrome
p.Tyr306Ter Single submitter Ellis-van Creveld syndrome
p.Val329fs Single submitter Ellis-van Creveld syndrome
c.1564-2A>G No assertion criteria Ellis-van Creveld syndrome
c.702+1G>A No assertion criteria Ellis-van Creveld syndrome
c.703-1G>A No assertion criteria Ellis-van Creveld syndrome
c.801+2T>G No assertion criteria Ellis-van Creveld syndrome
c.802-1G>C No assertion criteria Ellis-van Creveld syndrome
c.939+1G>C No assertion criteria Ellis-van Creveld syndrome
p.Arg128= No assertion criteria Ellis-van Creveld syndrome
p.Glu492Ter No assertion criteria Ellis-van Creveld syndrome
p.Leu726fs No assertion criteria Ellis-van Creveld syndrome
p.Phe240fs No assertion criteria Ellis-van Creveld syndrome

Conflicting classifications of pathogenicity 101

c.1315+7C>T Single submitter acrofacial dysostosis, Weyers type
c.1315+8G>A Single submitter Ellis-van Creveld syndrome
c.175-9G>A Single submitter acrofacial dysostosis, Weyers type
c.2305-6C>T Single submitter acrofacial dysostosis, Weyers type
c.2449+10C>A Single submitter acrofacial dysostosis, Weyers type
c.2449+12C>G Single submitter Ellis-van Creveld syndrome
c.2449+1G>A Single submitter acrofacial dysostosis, Weyers type
c.2562-3C>T Single submitter acrofacial dysostosis, Weyers type
c.2562-3del Single submitter Ellis-van Creveld syndrome
c.2782+15C>G Single submitter Ellis-van Creveld syndrome
c.2783-11G>A Single submitter acrofacial dysostosis, Weyers type
c.2895-16_2895-13del Single submitter acrofacial dysostosis, Weyers type
c.802-12C>T Single submitter Ellis-van Creveld syndrome
c.802-17TTC[3] Single submitter Ellis-van Creveld syndrome
c.802-17TTC[4] Single submitter acrofacial dysostosis, Weyers type
c.940-150T>C Single submitter Ellis-van Creveld syndrome
c.940-154G>A Single submitter
p.Ala197Ser Single submitter Inborn genetic diseases ⚠
p.Ala26Val Single submitter acrofacial dysostosis, Weyers type ⚠
p.Ala29Val Single submitter Ellis-van Creveld syndrome ⚠
p.Ala31Thr Single submitter acrofacial dysostosis, Weyers type ⚠
p.Ala368Thr Single submitter Inborn genetic diseases ⚠
p.Ala36Gly Single submitter acrofacial dysostosis, Weyers type ⚠
p.Ala450Val Single submitter acrofacial dysostosis, Weyers type ⚠
p.Ala566Thr Single submitter Ellis-van Creveld syndrome ⚠
p.Ala599= Single submitter Ellis-van Creveld syndrome
p.Ala655Thr Single submitter Inborn genetic diseases ⚠
p.Ala701Val Single submitter Ellis-van Creveld syndrome ⚠
p.Ala73Val Single submitter Ellis-van Creveld syndrome ⚠
p.Ala774= Single submitter acrofacial dysostosis, Weyers type
p.Ala784Thr Single submitter acrofacial dysostosis, Weyers type ⚠
p.Ala881Ser Single submitter Inborn genetic diseases ⚠
p.Arg190Leu Single submitter Inborn genetic diseases ⚠
p.Arg3Pro Single submitter Inborn genetic diseases ⚠
p.Arg52Cys Single submitter Inborn genetic diseases ⚠
p.Arg574= Single submitter acrofacial dysostosis, Weyers type
p.Arg609Gln Single submitter Inborn genetic diseases ⚠
p.Arg617His Single submitter Inborn genetic diseases ⚠
p.Arg643His Single submitter Inborn genetic diseases ⚠
p.Arg647Gln Single submitter acrofacial dysostosis, Weyers type ⚠
p.Arg652= Single submitter Ellis-van Creveld syndrome
p.Arg753Gln Single submitter Ellis-van Creveld syndrome ⚠
p.Arg760Trp Single submitter Ellis-van Creveld syndrome ⚠
p.Arg935= Single submitter acrofacial dysostosis, Weyers type
p.Asn573Asp Single submitter Inborn genetic diseases ⚠
p.Asn833Asp Single submitter Inborn genetic diseases ⚠
p.Asp184Asn Single submitter acrofacial dysostosis, Weyers type ⚠
p.Asp246Tyr Single submitter Inborn genetic diseases ⚠
p.Asp312Asn Single submitter Ellis-van Creveld syndrome ⚠
p.Asp590= Single submitter acrofacial dysostosis, Weyers type
p.Asp766= Single submitter Ellis-van Creveld syndrome
p.Asp945fs Single submitter Ellis-van Creveld syndrome
p.Cys204= Single submitter acrofacial dysostosis, Weyers type
p.Cys358= Single submitter Ellis-van Creveld syndrome
p.Gln579His Single submitter Ellis-van Creveld syndrome ⚠
p.Gln941Ter Single submitter Ellis-van Creveld syndrome
p.Glu457Lys Single submitter Ellis-van Creveld syndrome ⚠
p.Glu488Lys Single submitter Inborn genetic diseases ⚠
p.Glu514Lys Single submitter acrofacial dysostosis, Weyers type ⚠
p.Glu553Asp Single submitter Inborn genetic diseases ⚠
p.Glu681Lys Single submitter acrofacial dysostosis, Weyers type ⚠
p.Glu711Gly Single submitter Ellis-van Creveld syndrome ⚠
p.Gly403Ser Single submitter Ellis-van Creveld syndrome ⚠
p.Gly5Val Single submitter Inborn genetic diseases ⚠
p.Gly618Ser Single submitter Ellis-van Creveld syndrome ⚠
p.Gly653Ser Single submitter acrofacial dysostosis, Weyers type ⚠
p.Gly957Arg Single submitter Ellis-van Creveld syndrome ⚠
p.Gly977Glu Single submitter Ellis-van Creveld syndrome ⚠
p.His875Leu Single submitter Ellis-van Creveld syndrome ⚠
p.Ile797= Single submitter Ellis-van Creveld syndrome
p.Ile903Val Single submitter Inborn genetic diseases ⚠
p.Leu148= Single submitter Ellis-van Creveld syndrome
p.Leu310Val Single submitter Ellis-van Creveld syndrome ⚠
p.Leu328Phe Single submitter Ellis-van Creveld syndrome ⚠
p.Leu499Val Single submitter Inborn genetic diseases ⚠
p.Leu538Val Single submitter Ellis-van Creveld syndrome ⚠
p.Leu623Pro Single submitter acrofacial dysostosis, Weyers type
p.Leu626= Single submitter Ellis-van Creveld syndrome
p.Leu920Trp Single submitter Ellis-van Creveld syndrome ⚠
p.Lys758Asn Single submitter Inborn genetic diseases ⚠
p.Lys987= Single submitter Ellis-van Creveld syndrome
p.Met234Val Single submitter Ellis-van Creveld syndrome ⚠
p.Met500Ile Single submitter acrofacial dysostosis, Weyers type ⚠
p.Phe525Cys Single submitter Ellis-van Creveld syndrome ⚠
p.Pro122Ser Single submitter Ellis-van Creveld syndrome ⚠
p.Pro157Ala Single submitter Inborn genetic diseases ⚠
p.Pro30Leu Single submitter acrofacial dysostosis, Weyers type ⚠
p.Pro551= Single submitter acrofacial dysostosis, Weyers type
p.Ser414= Single submitter acrofacial dysostosis, Weyers type
p.Ser759Asn Single submitter Inborn genetic diseases ⚠
p.Ser77Leu Single submitter Ellis-van Creveld syndrome ⚠
p.Ser904= Single submitter Ellis-van Creveld syndrome
p.Ser966= Single submitter acrofacial dysostosis, Weyers type
p.Thr295Ser Single submitter acrofacial dysostosis, Weyers type ⚠
p.Thr347= Single submitter Ellis-van Creveld syndrome
p.Thr606= Single submitter Ellis-van Creveld syndrome
p.Thr631Met Single submitter acrofacial dysostosis, Weyers type ⚠
p.Thr660Met Single submitter Inborn genetic diseases ⚠
p.Thr840Met Single submitter Inborn genetic diseases ⚠
p.Val441Ile Single submitter Inborn genetic diseases ⚠
p.Val510Ile Single submitter Ellis-van Creveld syndrome ⚠

Benign 156

c.1098+51A>T Multiple submitters Ellis-van Creveld syndrome
c.1099-144G>T Multiple submitters
c.1099-167G>C Multiple submitters Ellis-van Creveld syndrome
c.1099-19T>C Multiple submitters Ellis-van Creveld syndrome
c.1099-208C>A Multiple submitters
c.1099-208C>T Multiple submitters Ellis-van Creveld syndrome
c.1316-139G>C Multiple submitters
c.1465-47A>C Multiple submitters Ellis-van Creveld syndrome
c.1563+1754G>A Multiple submitters
c.1563+1771A>G Multiple submitters Ellis-van Creveld syndrome
c.1563+185A>G Multiple submitters Ellis-van Creveld syndrome
c.1563+1897C>T Multiple submitters Ellis-van Creveld syndrome
c.174+31G>C Multiple submitters
c.1887-122G>A Multiple submitters
c.1887-90C>T Multiple submitters
c.2097+111A>C Multiple submitters
c.2097+118G>A Multiple submitters
c.2305-44C>T Multiple submitters
c.2305-8T>C Multiple submitters Ellis-van Creveld syndrome
c.2449+317A>T Multiple submitters
c.2449+82A>G Multiple submitters
c.2449+83C>T Multiple submitters
c.2450-91T>C Multiple submitters
c.2562-4C>G Multiple submitters Ellis-van Creveld syndrome
c.2782+103C>T Multiple submitters
c.2894+18A>G Multiple submitters Ellis-van Creveld syndrome
c.2894+248A>T Multiple submitters
c.2895-114A>G Multiple submitters
c.2895-249T>C Multiple submitters
c.301-171C>T Multiple submitters
c.301-80G>A Multiple submitters Ellis-van Creveld syndrome
c.384+41C>T Multiple submitters Ellis-van Creveld syndrome
c.385-16C>T Multiple submitters acrofacial dysostosis, Weyers type
c.385-170T>A Multiple submitters
c.385-174G>A Multiple submitters
c.385-84G>T Multiple submitters
c.618-121G>A Multiple submitters Ellis-van Creveld syndrome
c.618-196C>G Multiple submitters
c.702+27C>G Multiple submitters
c.801+240C>T Multiple submitters Ellis-van Creveld syndrome
c.802-12_802-11del Multiple submitters acrofacial dysostosis, Weyers type
c.802-15C>T Multiple submitters Ellis-van Creveld syndrome
c.802-15del Multiple submitters Ellis-van Creveld syndrome
c.939+10A>G Multiple submitters Ellis-van Creveld syndrome
c.939+114G>A Multiple submitters Ellis-van Creveld syndrome
c.939+11G>T Multiple submitters Ellis-van Creveld syndrome
c.939+4C>T Multiple submitters Ellis-van Creveld syndrome
c.939+63C>A Multiple submitters Ellis-van Creveld syndrome
c.939+84A>G Multiple submitters
c.940-61C>T Multiple submitters
c.940-68C>T Multiple submitters
c.940-71G>A Multiple submitters
c.940-91G>A Multiple submitters
c.*1060A>C Multiple submitters Ellis-van Creveld syndrome
c.*1083T>G Multiple submitters Ellis-van Creveld syndrome
c.*1218C>T Multiple submitters Ellis-van Creveld syndrome
c.*1318G>C Multiple submitters Ellis-van Creveld syndrome
c.*14G>A Multiple submitters Ellis-van Creveld syndrome
c.*1849C>G Multiple submitters Ellis-van Creveld syndrome
c.*2009T>C Multiple submitters Ellis-van Creveld syndrome
c.*210C>A Multiple submitters Ellis-van Creveld syndrome
c.*2268G>A Multiple submitters Ellis-van Creveld syndrome
c.*2417T>C Multiple submitters Ellis-van Creveld syndrome
c.*2617G>A Multiple submitters Ellis-van Creveld syndrome
c.*2680G>A Multiple submitters Ellis-van Creveld syndrome
c.*2713C>T Multiple submitters Ellis-van Creveld syndrome
c.*2871C>T Multiple submitters Ellis-van Creveld syndrome
c.*3165T>C Multiple submitters Ellis-van Creveld syndrome
c.*53T>C Multiple submitters Ellis-van Creveld syndrome
c.*748T>C Multiple submitters Ellis-van Creveld syndrome
c.*820C>T Multiple submitters Ellis-van Creveld syndrome
c.*931T>C Multiple submitters Ellis-van Creveld syndrome
p.Asn323= Multiple submitters Ellis-van Creveld syndrome
p.Asp958Asn Multiple submitters Ellis-van Creveld syndrome
p.Gly618= Multiple submitters Ellis-van Creveld syndrome
p.Leu356= Multiple submitters Ellis-van Creveld syndrome
p.Leu366= Multiple submitters Ellis-van Creveld syndrome
p.Lys260= Multiple submitters acrofacial dysostosis, Weyers type
p.Ser83= Multiple submitters Ellis-van Creveld syndrome
p.Thr449Lys Multiple submitters Ellis-van Creveld syndrome
p.Tyr258His Multiple submitters acrofacial dysostosis, Weyers type
c.1098+119del Single submitter
c.1098+123A>G Single submitter
c.1098+131del Single submitter
c.1098+194C>T Single submitter
c.1098+229_1098+230insGTGTCCATCCATCTAC Single submitter
c.1098+230C>G Single submitter
c.1098+231C>T Single submitter
c.1098+232A>G Single submitter
c.1098+244_1098+311del Single submitter
c.1098+260ATCC[6] Single submitter
c.1098+272A>G Single submitter
c.1098+277_1098+280del Single submitter
c.1098+277C>T Single submitter
c.1098+297C>T Single submitter
c.1315+271C>T Single submitter
c.1316-220G>A Single submitter
c.1464+177T>A Single submitter
c.1464+236G>T Single submitter
c.1465-285A>G Single submitter
c.1465-44del Single submitter
c.1465-44dup Single submitter
c.174+238T>A Single submitter
c.174+303C>T Single submitter
c.175-236G>T Single submitter
c.1776+206C>G Single submitter
c.1886+172C>A Single submitter
c.1886+202G>C Single submitter
c.1886+253C>T Single submitter
c.1886+266G>A Single submitter
c.2098-178_2098-168del Single submitter
c.2305-260_2305-258del Single submitter
c.2305-261_2305-258del Single submitter
c.2449+15dup Single submitter Ellis-van Creveld syndrome
c.2449+16del Single submitter acrofacial dysostosis, Weyers type
c.2450-207C>T Single submitter
c.2561+144G>T Single submitter
c.2561+221A>G Single submitter
c.2561+232del Single submitter
c.2562-45T>C Single submitter
c.2688+330C>T Single submitter
c.2782+145G>T Single submitter
c.2782+173G>T Single submitter
c.2782+264A>G Single submitter
c.2783-269A>G Single submitter
c.300+213C>T Single submitter
c.617+133G>C Single submitter
c.617+154A>G Single submitter
c.702+141C>T Single submitter
c.702+154G>C Single submitter
c.801+231del Single submitter
c.802-220del Single submitter
c.802-221_802-220del Single submitter
c.802-224_802-220dup Single submitter
c.802-225_802-220dup Single submitter
c.802-311T>C Single submitter
c.802-313A>G Single submitter
c.939+224C>T Single submitter
c.939+40del Single submitter
c.940-259T>G Single submitter
c.940-266C>T Single submitter
c.940-59_940-55dup Single submitter
c.*1185A>G Single submitter Ellis-van Creveld syndrome
c.*1375A>G Single submitter Ellis-van Creveld syndrome
c.*1648T>C Single submitter Ellis-van Creveld syndrome
c.*1700C>T Single submitter Ellis-van Creveld syndrome
c.*2132A>G Single submitter Ellis-van Creveld syndrome
c.*2277G>C Single submitter Ellis-van Creveld syndrome
c.*2285C>G Single submitter Ellis-van Creveld syndrome
c.*2466G>A Single submitter Ellis-van Creveld syndrome
c.*2708G>A Single submitter Ellis-van Creveld syndrome
c.*615C>T Single submitter Ellis-van Creveld syndrome
c.*908G>A Single submitter Ellis-van Creveld syndrome
p.Ala24Glu Single submitter Ellis-van Creveld syndrome
p.Leu257= Single submitter Ellis-van Creveld syndrome
p.Lys923Thr Single submitter Ellis-van Creveld syndrome

Benign/Likely benign 27

c.1464+8A>G Multiple submitters Ellis-van Creveld syndrome
c.1564-6C>T Multiple submitters acrofacial dysostosis, Weyers type
c.175-18C>G Multiple submitters acrofacial dysostosis, Weyers type
c.1777-6G>A Multiple submitters Ellis-van Creveld syndrome
c.2449+15del Multiple submitters Ellis-van Creveld syndrome
c.2895-10_2895-9del Multiple submitters acrofacial dysostosis, Weyers type
c.939+9C>T Multiple submitters Ellis-van Creveld syndrome
c.940-12C>G Multiple submitters acrofacial dysostosis, Weyers type
p.Ala114Val Multiple submitters Ellis-van Creveld syndrome ⚠
p.Ala376Val Multiple submitters acrofacial dysostosis, Weyers type
p.Ala747= Multiple submitters Ellis-van Creveld syndrome
p.Arg438Gln Multiple submitters acrofacial dysostosis, Weyers type
p.Arg443Gln Multiple submitters acrofacial dysostosis, Weyers type
p.Arg54= Multiple submitters acrofacial dysostosis, Weyers type
p.Arg576Gln Multiple submitters Ellis-van Creveld syndrome
p.Arg760Gln Multiple submitters acrofacial dysostosis, Weyers type
p.Arg788His Multiple submitters Ellis-van Creveld syndrome
p.Asp95Gly Multiple submitters Ellis-van Creveld syndrome
p.Gln791= Multiple submitters Ellis-van Creveld syndrome
p.Glu476Asp Multiple submitters acrofacial dysostosis, Weyers type
p.Lys445Gln Multiple submitters acrofacial dysostosis, Weyers type
p.Phe440Leu Multiple submitters Ellis-van Creveld syndrome ⚠
p.Ser158Cys Multiple submitters acrofacial dysostosis, Weyers type
p.Ser835= Multiple submitters acrofacial dysostosis, Weyers type
p.Thr372Met Multiple submitters Ellis-van Creveld syndrome
p.Thr423= Multiple submitters acrofacial dysostosis, Weyers type
p.Val619Ile Multiple submitters Ellis-van Creveld syndrome

Likely benign 834

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

c.1098+12G>C Multiple submitters Ellis-van Creveld syndrome
c.1099-20C>T Multiple submitters acrofacial dysostosis, Weyers type
c.1464+58G>A Multiple submitters
c.1464+5C>T Multiple submitters acrofacial dysostosis, Weyers type
c.1464+8A>T Multiple submitters Ellis-van Creveld syndrome
c.1563+14G>A Multiple submitters acrofacial dysostosis, Weyers type
c.1563+19G>A Multiple submitters acrofacial dysostosis, Weyers type
c.174+14G>A Multiple submitters acrofacial dysostosis, Weyers type
c.174+151C>T Multiple submitters
c.174+16A>G Multiple submitters acrofacial dysostosis, Weyers type
c.175-120C>T Multiple submitters
c.175-20T>C Multiple submitters Ellis-van Creveld syndrome
c.1777-96C>T Multiple submitters
c.2097+40G>A Multiple submitters
c.2098-41G>A Multiple submitters
c.2305-45A>C Multiple submitters
c.2449+10C>T Multiple submitters acrofacial dysostosis, Weyers type
c.2449+15C>G Multiple submitters acrofacial dysostosis, Weyers type
c.2561+18G>A Multiple submitters acrofacial dysostosis, Weyers type
c.2561+90G>A Multiple submitters
c.2562-13_2562-12delinsCC Multiple submitters acrofacial dysostosis, Weyers type
c.2562-5C>G Multiple submitters Ellis-van Creveld syndrome
c.2688+33A>G Multiple submitters
c.2782+13dup Multiple submitters Ellis-van Creveld syndrome
c.2783-114A>G Multiple submitters
c.2783-8C>T Multiple submitters Ellis-van Creveld syndrome
c.2895-105A>C Multiple submitters
c.2895-34G>A Multiple submitters
c.2895-4T>C Multiple submitters acrofacial dysostosis, Weyers type
c.301-218C>T Multiple submitters
c.301-268T>C Multiple submitters
c.617+10G>T Multiple submitters Ellis-van Creveld syndrome
c.618-22C>T Multiple submitters
c.702+16C>T Multiple submitters acrofacial dysostosis, Weyers type
c.703-265C>T Multiple submitters
c.801+13C>T Multiple submitters acrofacial dysostosis, Weyers type
c.802-12_802-8del Multiple submitters Ellis-van Creveld syndrome
c.*1439C>T Multiple submitters Ellis-van Creveld syndrome
c.*2310G>A Multiple submitters Ellis-van Creveld syndrome
p.Ala376= Multiple submitters Ellis-van Creveld syndrome
p.Ala450= Multiple submitters acrofacial dysostosis, Weyers type
p.Ala645= Multiple submitters Ellis-van Creveld syndrome
p.Ala701= Multiple submitters acrofacial dysostosis, Weyers type
p.Arg435His Multiple submitters Ellis-van Creveld syndrome
p.Arg819= Multiple submitters Ellis-van Creveld syndrome
p.Asn564= Multiple submitters acrofacial dysostosis, Weyers type
p.Asp170= Multiple submitters Ellis-van Creveld syndrome
p.Asp19= Multiple submitters Ellis-van Creveld syndrome
p.Asp60= Multiple submitters Ellis-van Creveld syndrome
p.Gln877= Multiple submitters acrofacial dysostosis, Weyers type
p.Glu256= Multiple submitters acrofacial dysostosis, Weyers type
p.Glu315= Multiple submitters Ellis-van Creveld syndrome
p.Gly35= Multiple submitters Ellis-van Creveld syndrome
p.Gly545= Multiple submitters Ellis-van Creveld syndrome
p.Gly637= Multiple submitters Ellis-van Creveld syndrome
p.Gly843= Multiple submitters Ellis-van Creveld syndrome
p.Ile311= Multiple submitters acrofacial dysostosis, Weyers type
p.Leu874= Multiple submitters Ellis-van Creveld syndrome
p.Met546Val Multiple submitters acrofacial dysostosis, Weyers type
p.Pro137= Multiple submitters acrofacial dysostosis, Weyers type
p.Pro483= Multiple submitters Ellis-van Creveld syndrome
p.Ser177= Multiple submitters Ellis-van Creveld syndrome
p.Ser180= Multiple submitters Ellis-van Creveld syndrome
p.Ser183= Multiple submitters acrofacial dysostosis, Weyers type
p.Ser253= Multiple submitters Ellis-van Creveld syndrome
p.Ser783= Multiple submitters Ellis-van Creveld syndrome
p.Ser956= Multiple submitters Ellis-van Creveld syndrome
p.Thr347Met Multiple submitters Ellis-van Creveld syndrome
p.Thr660= Multiple submitters Ellis-van Creveld syndrome
p.Val178= Multiple submitters acrofacial dysostosis, Weyers type
p.Val178Ile Multiple submitters acrofacial dysostosis, Weyers type
c.1098+13G>A Single submitter acrofacial dysostosis, Weyers type
c.1098+13G>C Single submitter acrofacial dysostosis, Weyers type
c.1098+15G>C Single submitter acrofacial dysostosis, Weyers type
c.1098+16del Single submitter
c.1098+16G>A Single submitter acrofacial dysostosis, Weyers type
c.1098+16G>T Single submitter acrofacial dysostosis, Weyers type
c.1098+17C>T Single submitter Ellis-van Creveld syndrome
c.1098+18G>A Single submitter acrofacial dysostosis, Weyers type
c.1098+18G>T Single submitter acrofacial dysostosis, Weyers type
c.1098+20G>C Single submitter Ellis-van Creveld syndrome
c.1098+20G>T Single submitter acrofacial dysostosis, Weyers type
c.1098+280A>G Single submitter
c.1098+288_1098+289insCCCACCCA Single submitter
c.1098+293T>C Single submitter
c.1098+8T>C Single submitter acrofacial dysostosis, Weyers type
c.1098+8T>G Single submitter acrofacial dysostosis, Weyers type
c.1098+9G>A Single submitter Ellis-van Creveld syndrome
c.1099-10C>A Single submitter Ellis-van Creveld syndrome
c.1099-14G>A Single submitter acrofacial dysostosis, Weyers type
c.1099-21_1099-19delinsGTC Single submitter acrofacial dysostosis, Weyers type
c.1099-21_1099-20delinsGT Single submitter Ellis-van Creveld syndrome
c.1099-4G>A Single submitter Ellis-van Creveld syndrome
c.1099-4G>T Single submitter Ellis-van Creveld syndrome
c.1099-5T>C Single submitter Ellis-van Creveld syndrome
c.1315+11G>C Single submitter acrofacial dysostosis, Weyers type
c.1315+14A>G Single submitter acrofacial dysostosis, Weyers type
c.1315+16_1315+27del Single submitter acrofacial dysostosis, Weyers type
c.1315+16G>A Single submitter Ellis-van Creveld syndrome
c.1315+189C>T Single submitter
c.1315+202G>A Single submitter
c.1315+253C>T Single submitter
c.1315+8G>T Single submitter acrofacial dysostosis, Weyers type
c.1316-14T>C Single submitter acrofacial dysostosis, Weyers type
c.1316-20G>A Single submitter acrofacial dysostosis, Weyers type
c.1316-20G>T Single submitter acrofacial dysostosis, Weyers type
c.1316-4C>T Single submitter acrofacial dysostosis, Weyers type
c.1316-57C>G Single submitter
c.1316-9C>T Single submitter Ellis-van Creveld syndrome
c.1464+12C>A Single submitter Ellis-van Creveld syndrome
c.1464+12C>G Single submitter acrofacial dysostosis, Weyers type
c.1464+19C>T Single submitter acrofacial dysostosis, Weyers type
c.1464+20T>C Single submitter Ellis-van Creveld syndrome
c.1464+272C>T Single submitter
c.1464+7C>G Single submitter Ellis-van Creveld syndrome
c.1465-12T>G Single submitter Ellis-van Creveld syndrome
c.1465-13G>A Single submitter acrofacial dysostosis, Weyers type
c.1465-15_1465-14del Single submitter acrofacial dysostosis, Weyers type
c.1465-15_1465-14dup Single submitter acrofacial dysostosis, Weyers type
c.1465-18C>T Single submitter acrofacial dysostosis, Weyers type
c.1465-4A>G Single submitter acrofacial dysostosis, Weyers type
c.1465-5C>A Single submitter acrofacial dysostosis, Weyers type
c.1465-7C>T Single submitter acrofacial dysostosis, Weyers type
c.1465-8C>T Single submitter Ellis-van Creveld syndrome
c.1465-9T>C Single submitter acrofacial dysostosis, Weyers type
c.1563+10C>T Single submitter Ellis-van Creveld syndrome
c.1563+11T>A Single submitter acrofacial dysostosis, Weyers type
c.1563+13T>C Single submitter acrofacial dysostosis, Weyers type
c.1563+14G>C Single submitter acrofacial dysostosis, Weyers type
c.1563+15T>G Single submitter acrofacial dysostosis, Weyers type
c.1563+16G>A Single submitter acrofacial dysostosis, Weyers type
c.1563+1710C>A Single submitter
c.1563+1735A>C Single submitter
c.1563+1773G>C Single submitter
c.1563+216C>A Single submitter Ellis-van Creveld syndrome
c.1563+217A>G Single submitter
c.1563+7G>A Single submitter Ellis-van Creveld syndrome
c.1563+8G>C Single submitter Ellis-van Creveld syndrome
c.1564-10T>G Single submitter Ellis-van Creveld syndrome
c.1564-11C>G Single submitter acrofacial dysostosis, Weyers type
c.1564-11C>T Single submitter acrofacial dysostosis, Weyers type
c.1564-15G>T Single submitter acrofacial dysostosis, Weyers type
c.1564-19C>G Single submitter acrofacial dysostosis, Weyers type
c.1564-205G>T Single submitter
c.1564-240G>T Single submitter
c.1564-258A>T Single submitter
c.1564-7G>A Single submitter acrofacial dysostosis, Weyers type
c.1564-7G>C Single submitter acrofacial dysostosis, Weyers type
c.1564-7G>T Single submitter Ellis-van Creveld syndrome
c.1564-8C>T Single submitter Ellis-van Creveld syndrome
c.1564-9C>T Single submitter Ellis-van Creveld syndrome
c.174+11C>G Single submitter acrofacial dysostosis, Weyers type
c.174+11C>T Single submitter
c.174+12G>A Single submitter acrofacial dysostosis, Weyers type
c.174+16_174+30del Single submitter acrofacial dysostosis, Weyers type
c.174+17G>T Single submitter acrofacial dysostosis, Weyers type
c.174+7C>G Single submitter Ellis-van Creveld syndrome
c.174+7C>T Single submitter acrofacial dysostosis, Weyers type
c.174+8G>C Single submitter Ellis-van Creveld syndrome
c.174+8G>T Single submitter Ellis-van Creveld syndrome
c.175-10C>T Single submitter Ellis-van Creveld syndrome
c.175-19C>G Single submitter acrofacial dysostosis, Weyers type
c.175-19C>T Single submitter acrofacial dysostosis, Weyers type
c.175-9G>C Single submitter Ellis-van Creveld syndrome
c.1776+15G>A Single submitter Ellis-van Creveld syndrome
c.1776+199C>T Single submitter
c.1776+7del Single submitter Ellis-van Creveld syndrome
c.1776+7G>A Single submitter acrofacial dysostosis, Weyers type
c.1776+8C>G Single submitter Ellis-van Creveld syndrome
c.1776+8C>T Single submitter Ellis-van Creveld syndrome
c.1776+9A>G Single submitter Ellis-van Creveld syndrome
c.1777-13G>C Single submitter Ellis-van Creveld syndrome
c.1777-15C>G Single submitter acrofacial dysostosis, Weyers type
c.1777-17C>G Single submitter acrofacial dysostosis, Weyers type
c.1777-19C>T Single submitter acrofacial dysostosis, Weyers type
c.1777-8G>A Single submitter acrofacial dysostosis, Weyers type
c.1777-9C>G Single submitter acrofacial dysostosis, Weyers type
c.1777-9C>T Single submitter acrofacial dysostosis, Weyers type
c.1886+10G>A Single submitter Ellis-van Creveld syndrome
c.1886+11C>T Single submitter acrofacial dysostosis, Weyers type
c.1886+13C>T Single submitter acrofacial dysostosis, Weyers type
c.1886+142C>T Single submitter
c.1886+16T>C Single submitter acrofacial dysostosis, Weyers type
c.1886+17G>C Single submitter acrofacial dysostosis, Weyers type
c.1886+7A>G Single submitter Ellis-van Creveld syndrome
c.1887-160A>C Single submitter
c.1887-19T>G Single submitter acrofacial dysostosis, Weyers type
c.1887-4A>C Single submitter Ellis-van Creveld syndrome
c.1887-5C>T Single submitter acrofacial dysostosis, Weyers type
c.2097+10G>T Single submitter acrofacial dysostosis, Weyers type
c.2097+12A>G Single submitter Ellis-van Creveld syndrome
c.2098-10T>C Single submitter Ellis-van Creveld syndrome
c.2098-13C>G Single submitter acrofacial dysostosis, Weyers type
c.2098-16G>T Single submitter Ellis-van Creveld syndrome
c.2098-20C>T Single submitter Ellis-van Creveld syndrome
c.2098-229C>T Single submitter
c.2098-294C>T Single submitter
c.2098-4C>G Single submitter Ellis-van Creveld syndrome
c.2098-5C>G Single submitter Ellis-van Creveld syndrome
c.2098-5C>T Single submitter Ellis-van Creveld syndrome
c.2098-7C>G Single submitter Ellis-van Creveld syndrome
c.2098-8C>T Single submitter Ellis-van Creveld syndrome
c.2304+10G>C Single submitter Ellis-van Creveld syndrome
c.2304+10G>T Single submitter acrofacial dysostosis, Weyers type
c.2304+15_2304+16del Single submitter acrofacial dysostosis, Weyers type
c.2304+19C>T Single submitter acrofacial dysostosis, Weyers type
c.2304+60A>C Single submitter
c.2304+7A>G Single submitter acrofacial dysostosis, Weyers type
c.2304+8C>G Single submitter Ellis-van Creveld syndrome
c.2304+9T>A Single submitter acrofacial dysostosis, Weyers type
c.2305-13T>C Single submitter Ellis-van Creveld syndrome
c.2305-15C>T Single submitter Ellis-van Creveld syndrome
c.2305-17T>C Single submitter acrofacial dysostosis, Weyers type
c.2305-19C>A Single submitter acrofacial dysostosis, Weyers type
c.2305-19C>T Single submitter acrofacial dysostosis, Weyers type
c.2305-259_2305-258del Single submitter
c.2305-58G>A Single submitter
c.2305-5C>G Single submitter Ellis-van Creveld syndrome
c.2305-8_2305-7delinsCT Single submitter Ellis-van Creveld syndrome
c.2449+10C>G Single submitter Ellis-van Creveld syndrome
c.2449+12C>T Single submitter acrofacial dysostosis, Weyers type
c.2449+13C>G Single submitter acrofacial dysostosis, Weyers type
c.2449+13C>T Single submitter acrofacial dysostosis, Weyers type
c.2449+14C>A Single submitter Ellis-van Creveld syndrome
c.2449+14C>G Single submitter Ellis-van Creveld syndrome
c.2449+14C>T Single submitter acrofacial dysostosis, Weyers type
c.2449+15_2449+16insA Single submitter Ellis-van Creveld syndrome
c.2449+8A>C Single submitter Ellis-van Creveld syndrome
c.2449+9C>A Single submitter Ellis-van Creveld syndrome
c.2450-16G>A Single submitter acrofacial dysostosis, Weyers type
c.2450-18C>T Single submitter acrofacial dysostosis, Weyers type
c.2450-4C>T Single submitter Ellis-van Creveld syndrome
c.2450-7_2450-5dup Single submitter Ellis-van Creveld syndrome
c.2450-7G>T Single submitter acrofacial dysostosis, Weyers type
c.2450-8T>C Single submitter Ellis-van Creveld syndrome
c.2561+10C>A Single submitter Ellis-van Creveld syndrome
c.2561+11A>C Single submitter acrofacial dysostosis, Weyers type
c.2561+12_2561+23dup Single submitter acrofacial dysostosis, Weyers type
c.2561+12A>C Single submitter acrofacial dysostosis, Weyers type
c.2561+134C>T Single submitter
c.2561+13C>A Single submitter acrofacial dysostosis, Weyers type
c.2561+258G>A Single submitter
c.2561+294C>T Single submitter
c.2561+8C>T Single submitter Ellis-van Creveld syndrome
c.2562-12T>C Single submitter
c.2562-13T>C Single submitter
c.2562-142C>G Single submitter
c.2562-14C>G Single submitter Ellis-van Creveld syndrome
c.2562-18del Single submitter acrofacial dysostosis, Weyers type
c.2562-19C>G Single submitter acrofacial dysostosis, Weyers type
c.2562-20G>T Single submitter acrofacial dysostosis, Weyers type
c.2562-4C>A Single submitter Ellis-van Creveld syndrome
c.2562-4C>T Single submitter Ellis-van Creveld syndrome
c.2562-5C>A Single submitter acrofacial dysostosis, Weyers type
c.2562-6C>T Single submitter Ellis-van Creveld syndrome
c.2562-70CTCC[6] Single submitter
c.2562-8C>T Single submitter Ellis-van Creveld syndrome
c.2688+11C>A Single submitter acrofacial dysostosis, Weyers type
c.2688+11C>T Single submitter acrofacial dysostosis, Weyers type
c.2688+19G>A Single submitter acrofacial dysostosis, Weyers type
c.2688+272A>G Single submitter
c.2688+301C>G Single submitter
c.2688+8_2688+13del Single submitter acrofacial dysostosis, Weyers type
c.2689-11_2689-8del Single submitter acrofacial dysostosis, Weyers type
c.2689-16T>C Single submitter acrofacial dysostosis, Weyers type
c.2689-19C>T Single submitter acrofacial dysostosis, Weyers type
c.2689-20C>A Single submitter acrofacial dysostosis, Weyers type
c.2689-225G>A Single submitter
c.2689-23del Single submitter
c.2689-285G>C Single submitter
c.2689-8C>G Single submitter Ellis-van Creveld syndrome
c.2782+12A>G Single submitter acrofacial dysostosis, Weyers type
c.2782+13T>A Single submitter Ellis-van Creveld syndrome
c.2782+15_2782+18dup Single submitter Ellis-van Creveld syndrome
c.2782+15C>T Single submitter acrofacial dysostosis, Weyers type
c.2782+19A>T Single submitter acrofacial dysostosis, Weyers type
c.2782+7C>A Single submitter Ellis-van Creveld syndrome
c.2782+8A>G Single submitter Ellis-van Creveld syndrome
c.2782+9C>T Single submitter acrofacial dysostosis, Weyers type
c.2783-11del Single submitter acrofacial dysostosis, Weyers type
c.2783-18T>G Single submitter Ellis-van Creveld syndrome
c.2783-271G>A Single submitter
c.2783-4A>G Single submitter Ellis-van Creveld syndrome
c.2894+11G>T Single submitter acrofacial dysostosis, Weyers type
c.2894+12C>T Single submitter acrofacial dysostosis, Weyers type
c.2894+14C>T Single submitter acrofacial dysostosis, Weyers type
c.2894+15C>T Single submitter acrofacial dysostosis, Weyers type
c.2894+16G>A Single submitter acrofacial dysostosis, Weyers type
c.2894+18A>T Single submitter acrofacial dysostosis, Weyers type
c.2894+7C>G Single submitter acrofacial dysostosis, Weyers type
c.2894+8T>C Single submitter acrofacial dysostosis, Weyers type
c.2894+9G>C Single submitter Ellis-van Creveld syndrome
c.2895-12_2895-10del Single submitter acrofacial dysostosis, Weyers type
c.2895-12C>G Single submitter acrofacial dysostosis, Weyers type
c.2895-16del Single submitter acrofacial dysostosis, Weyers type
c.2895-20C>A Single submitter acrofacial dysostosis, Weyers type
c.2895-20C>T Single submitter acrofacial dysostosis, Weyers type
c.2895-5T>C Single submitter acrofacial dysostosis, Weyers type
c.2895-8_2895-4del Single submitter Ellis-van Creveld syndrome
c.300+10G>C Single submitter Ellis-van Creveld syndrome

Uncertain significance 557

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

c.1776+4C>T Multiple submitters Ellis-van Creveld syndrome
c.2449+4C>T Multiple submitters acrofacial dysostosis, Weyers type
c.*1112T>C Multiple submitters Ellis-van Creveld syndrome
c.*1123A>G Multiple submitters Ellis-van Creveld syndrome
c.*798T>G Multiple submitters Ellis-van Creveld syndrome
c.*922G>A Multiple submitters Ellis-van Creveld syndrome
p.39GL[4] Multiple submitters acrofacial dysostosis, Weyers type
p.Ala114Thr Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Ala20Pro Multiple submitters Inborn genetic diseases ⚠
p.Ala24Ser Multiple submitters EVC-related disorder ⚠
p.Ala365Asp Multiple submitters Inborn genetic diseases ⚠
p.Ala365Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala368Pro Multiple submitters EVC-related disorder ⚠
p.Ala565Thr Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Ala743Thr Multiple submitters Ellis-van Creveld syndrome ⚠
p.Ala915Pro Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Arg18Leu Multiple submitters Ellis-van Creveld syndrome ⚠
p.Arg194Trp Multiple submitters Ellis-van Creveld syndrome ⚠
p.Arg22Pro Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Arg340Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg375Gln Multiple submitters Ellis-van Creveld syndrome ⚠
p.Arg396Gln Multiple submitters Ellis-van Creveld syndrome ⚠
p.Arg396Trp Multiple submitters Ellis-van Creveld syndrome ⚠
p.Arg416Gln Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Arg435Cys Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Arg438Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg498Met Multiple submitters EVC-related disorder
p.Arg576Leu Multiple submitters Ellis-van Creveld syndrome ⚠
p.Arg609Trp Multiple submitters Ellis-van Creveld syndrome ⚠
p.Arg622Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg647Pro Multiple submitters Ellis-van Creveld syndrome ⚠
p.Arg647Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg652His Multiple submitters Ellis-van Creveld syndrome ⚠
p.Arg702Gly Multiple submitters Inborn genetic diseases ⚠
p.Arg702His Multiple submitters Ellis-van Creveld syndrome ⚠
p.Arg709Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg718Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg724Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg753Trp Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Arg839Lys Multiple submitters Inborn genetic diseases ⚠
p.Arg873His Multiple submitters Inborn genetic diseases ⚠
p.Arg911Gln Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Arg924Cys Multiple submitters Inborn genetic diseases ⚠
p.Asn313Lys Multiple submitters EVC-related disorder ⚠
p.Asn822Asp Multiple submitters Inborn genetic diseases ⚠
p.Asp359Asn Multiple submitters Ellis-van Creveld syndrome ⚠
p.Asp885Gly Multiple submitters Inborn genetic diseases ⚠
p.Asp953Val Multiple submitters Inborn genetic diseases ⚠
p.Asp978Asn Multiple submitters Ellis-van Creveld syndrome ⚠
p.Asp978Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln364Arg Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Gln589Glu Multiple submitters Inborn genetic diseases ⚠
p.Gln636Arg Multiple submitters Ellis-van Creveld syndrome ⚠
p.Gln715Glu Multiple submitters Inborn genetic diseases ⚠
p.Glu154Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu300Ala Multiple submitters Inborn genetic diseases
p.Glu354Lys Multiple submitters Inborn genetic diseases
p.Glu420Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu488Gly Multiple submitters Ellis-van Creveld syndrome ⚠
p.Glu507Gly Multiple submitters Inborn genetic diseases ⚠
p.Glu508Gly Multiple submitters Ellis-van Creveld syndrome ⚠
p.Glu705Gly Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Glu712Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly167Ser Multiple submitters Ellis-van Creveld syndrome ⚠
p.Gly17Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly415Arg Multiple submitters Ellis-van Creveld syndrome ⚠
p.Gly798Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly842Asp Multiple submitters Ellis-van Creveld syndrome ⚠
p.His233Arg Multiple submitters Ellis-van Creveld syndrome ⚠
p.His233Pro Multiple submitters Inborn genetic diseases ⚠
p.His607Gln Multiple submitters Inborn genetic diseases ⚠
p.Ile744Thr Multiple submitters Inborn genetic diseases ⚠
p.Leu228Val Multiple submitters Inborn genetic diseases ⚠
p.Leu245His Multiple submitters Ellis-van Creveld syndrome ⚠
p.Leu28Pro Multiple submitters Ellis-van Creveld syndrome
p.Leu42Ile Multiple submitters Inborn genetic diseases ⚠
p.Leu46Phe Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Leu494Pro Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Leu582Val Multiple submitters Inborn genetic diseases ⚠
p.Leu670His Multiple submitters Ellis-van Creveld syndrome ⚠
p.Leu809Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu914Phe Multiple submitters Ellis-van Creveld syndrome ⚠
p.Lys860Asn Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Lys918Glu Multiple submitters Ellis-van Creveld syndrome ⚠
p.Met285Val Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Pro137Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro152Leu Multiple submitters Ellis-van Creveld syndrome ⚠
p.Pro483Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro551Arg Multiple submitters Ellis-van Creveld syndrome ⚠
p.Pro551Leu Multiple submitters Inborn genetic diseases ⚠
p.Pro834Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser286Trp Multiple submitters Inborn genetic diseases ⚠
p.Ser307Cys Multiple submitters Ellis-van Creveld syndrome ⚠
p.Ser360Pro Multiple submitters Ellis-van Creveld syndrome ⚠
p.Thr226Met Multiple submitters Ellis-van Creveld syndrome ⚠
p.Thr423Met Multiple submitters Inborn genetic diseases ⚠
p.Thr463Arg Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Thr542Met Multiple submitters Inborn genetic diseases ⚠
p.Tyr293Cys Multiple submitters Ellis-van Creveld syndrome ⚠
p.Val209Ile Multiple submitters Ellis-van Creveld syndrome ⚠
p.Val593Met Multiple submitters Ellis-van Creveld syndrome ⚠
p.Val603Met Multiple submitters acrofacial dysostosis, Weyers type ⚠
p.Val781Met Multiple submitters Ellis-van Creveld syndrome ⚠
p.Val790Met Multiple submitters Ellis-van Creveld syndrome ⚠
c.1098+4A>G Single submitter
c.1099-19_1099-18inv Single submitter acrofacial dysostosis, Weyers type
c.1316-10T>A Single submitter Ellis-van Creveld syndrome
c.1465-5C>T Single submitter Ellis-van Creveld syndrome
c.1776+5G>A Single submitter acrofacial dysostosis, Weyers type
c.1887-3A>G Single submitter Ellis-van Creveld syndrome
c.2449+5G>A Single submitter Ellis-van Creveld syndrome
c.2562-3C>G Single submitter
c.2689-3C>T Single submitter
c.2783-3C>A Single submitter Ellis-van Creveld syndrome
c.2894+13C>T Single submitter Ellis-van Creveld syndrome
c.2894+18_2894+19delinsGA Single submitter Ellis-van Creveld syndrome
c.2894+4T>A Single submitter Ellis-van Creveld syndrome
c.300+3A>G Single submitter Ellis-van Creveld syndrome
c.385-3C>T Single submitter Ellis-van Creveld syndrome
c.802-15_802-9delinsT Single submitter
c.939+5G>A Single submitter
c.-139G>A Single submitter Ellis-van Creveld syndrome
c.-163G>A Single submitter Ellis-van Creveld syndrome
c.-20C>A Single submitter Ellis-van Creveld syndrome
c.-36G>A Single submitter Ellis-van Creveld syndrome
c.*1008G>A Single submitter Ellis-van Creveld syndrome
c.*1019A>C Single submitter Ellis-van Creveld syndrome
c.*104G>A Single submitter Ellis-van Creveld syndrome
c.*1069A>G Single submitter Ellis-van Creveld syndrome
c.*1071G>C Single submitter Ellis-van Creveld syndrome
c.*1073C>T Single submitter Ellis-van Creveld syndrome
c.*1136T>C Single submitter Ellis-van Creveld syndrome
c.*1150A>G Single submitter Ellis-van Creveld syndrome
c.*1176C>A Single submitter Ellis-van Creveld syndrome
c.*1199G>A Single submitter Ellis-van Creveld syndrome
c.*1243A>G Single submitter Ellis-van Creveld syndrome
c.*1248T>G Single submitter Ellis-van Creveld syndrome
c.*1256C>T Single submitter Ellis-van Creveld syndrome
c.*1257G>T Single submitter Ellis-van Creveld syndrome
c.*1277A>C Single submitter Ellis-van Creveld syndrome
c.*1288T>C Single submitter Ellis-van Creveld syndrome
c.*1313C>T Single submitter Ellis-van Creveld syndrome
c.*1338C>T Single submitter Ellis-van Creveld syndrome
c.*1369G>A Single submitter Ellis-van Creveld syndrome
c.*1374G>C Single submitter Ellis-van Creveld syndrome
c.*1394T>C Single submitter Ellis-van Creveld syndrome
c.*1395C>T Single submitter Ellis-van Creveld syndrome
c.*1403C>T Single submitter Ellis-van Creveld syndrome
c.*1428C>G Single submitter Ellis-van Creveld syndrome
c.*1446A>G Single submitter Ellis-van Creveld syndrome
c.*1512T>C Single submitter Ellis-van Creveld syndrome
c.*1515A>T Single submitter Ellis-van Creveld syndrome
c.*1545T>G Single submitter Ellis-van Creveld syndrome
c.*1554A>C Single submitter Ellis-van Creveld syndrome
c.*1568C>T Single submitter Ellis-van Creveld syndrome
c.*1573T>A Single submitter Ellis-van Creveld syndrome
c.*1592C>T Single submitter Ellis-van Creveld syndrome
c.*1599C>T Single submitter Ellis-van Creveld syndrome
c.*15G>C Single submitter
c.*1766C>T Single submitter Ellis-van Creveld syndrome
c.*1871C>T Single submitter Ellis-van Creveld syndrome
c.*1981A>G Single submitter Ellis-van Creveld syndrome
c.*198G>A Single submitter Ellis-van Creveld syndrome
c.*2303T>A Single submitter Ellis-van Creveld syndrome
c.*2321C>T Single submitter Ellis-van Creveld syndrome
c.*2349T>C Single submitter Ellis-van Creveld syndrome
c.*2361C>T Single submitter Ellis-van Creveld syndrome
c.*2465C>T Single submitter Ellis-van Creveld syndrome
c.*2468C>G Single submitter Ellis-van Creveld syndrome
c.*2490C>G Single submitter Ellis-van Creveld syndrome
c.*2490C>T Single submitter Ellis-van Creveld syndrome
c.*254G>A Single submitter Ellis-van Creveld syndrome
c.*2569C>T Single submitter Ellis-van Creveld syndrome
c.*2593C>T Single submitter Ellis-van Creveld syndrome
c.*263T>C Single submitter Ellis-van Creveld syndrome
c.*2686G>A Single submitter Ellis-van Creveld syndrome
c.*2692G>A Single submitter Ellis-van Creveld syndrome
c.*274C>G Single submitter Ellis-van Creveld syndrome
c.*2808C>T Single submitter Ellis-van Creveld syndrome
c.*2847G>A Single submitter Ellis-van Creveld syndrome
c.*2922A>C Single submitter Ellis-van Creveld syndrome
c.*302G>A Single submitter Ellis-van Creveld syndrome
c.*3046G>C Single submitter Ellis-van Creveld syndrome
c.*3118C>G Single submitter Ellis-van Creveld syndrome
c.*3121C>G Single submitter Ellis-van Creveld syndrome
c.*3161A>C Single submitter Ellis-van Creveld syndrome
c.*3170T>C Single submitter Ellis-van Creveld syndrome
c.*355C>G Single submitter Ellis-van Creveld syndrome
c.*367C>T Single submitter Ellis-van Creveld syndrome
c.*3T>G Single submitter Ellis-van Creveld syndrome
c.*404C>T Single submitter
c.*542C>T Single submitter Ellis-van Creveld syndrome
c.*582C>A Single submitter Ellis-van Creveld syndrome
c.*619C>G Single submitter Ellis-van Creveld syndrome
c.*662G>A Single submitter Ellis-van Creveld syndrome
c.*709T>C Single submitter Ellis-van Creveld syndrome
c.*844C>G Single submitter Ellis-van Creveld syndrome
c.*858G>A Single submitter Ellis-van Creveld syndrome
c.*869A>G Single submitter Ellis-van Creveld syndrome
c.*907C>T Single submitter Ellis-van Creveld syndrome
c.*956C>G Single submitter Ellis-van Creveld syndrome
c.*967T>G Single submitter Ellis-van Creveld syndrome
c.*971C>G Single submitter Ellis-van Creveld syndrome
c.*995T>A Single submitter Ellis-van Creveld syndrome
p.39GL[1] Single submitter Ellis-van Creveld syndrome
p.Ala114Ser Single submitter Inborn genetic diseases ⚠
p.Ala12Pro Single submitter Ellis-van Creveld syndrome ⚠
p.Ala146Gly Single submitter acrofacial dysostosis, Weyers type ⚠
p.Ala26Ser Single submitter Ellis-van Creveld syndrome ⚠
p.Ala352Val Single submitter Inborn genetic diseases ⚠
p.Ala353Val Single submitter Inborn genetic diseases ⚠
p.Ala368Ser Single submitter Inborn genetic diseases ⚠
p.Ala36Thr Single submitter Inborn genetic diseases ⚠
p.Ala408Ser Single submitter Inborn genetic diseases ⚠
p.Ala428Thr Single submitter Inborn genetic diseases ⚠
p.Ala428Val Single submitter Ellis-van Creveld syndrome ⚠
p.Ala433Ser Single submitter Inborn genetic diseases ⚠
p.Ala453Gly Single submitter Inborn genetic diseases ⚠
p.Ala460Ser Single submitter Inborn genetic diseases ⚠
p.Ala460Val Single submitter Ellis-van Creveld syndrome ⚠
p.Ala481Pro Single submitter Ellis-van Creveld syndrome ⚠
p.Ala50Arg Single submitter Ellis-van Creveld syndrome
p.Ala566Pro Single submitter Inborn genetic diseases ⚠
p.Ala650Val Single submitter acrofacial dysostosis, Weyers type ⚠
p.Ala657Pro Single submitter Inborn genetic diseases ⚠
p.Ala679Val Single submitter Inborn genetic diseases ⚠
p.Ala6Pro Single submitter Inborn genetic diseases ⚠
p.Ala701Ser Single submitter Inborn genetic diseases ⚠
p.Ala755Val Single submitter Ellis-van Creveld syndrome ⚠
p.Ala774Val Single submitter Ellis-van Creveld syndrome ⚠
p.Ala784Ser Single submitter Ellis-van Creveld syndrome ⚠
p.Ala792Val Single submitter Ellis-van Creveld syndrome ⚠
p.Ala7Val Single submitter Inborn genetic diseases ⚠
p.Ala841Val Single submitter Ellis-van Creveld syndrome ⚠
p.Ala844Thr Single submitter acrofacial dysostosis, Weyers type ⚠
p.Ala850Val Single submitter acrofacial dysostosis, Weyers type ⚠
p.Ala876Val Single submitter Inborn genetic diseases ⚠
p.Ala955Ser Single submitter Ellis-van Creveld syndrome ⚠
p.Ala976Val Single submitter Ellis-van Creveld syndrome ⚠
p.Arg13Gly Single submitter ⚠
p.Arg18Trp Single submitter Inborn genetic diseases ⚠
p.Arg190Cys Single submitter Ellis-van Creveld syndrome ⚠
p.Arg190His Single submitter ⚠
p.Arg194Gln Single submitter Ellis-van Creveld syndrome ⚠
p.Arg194Pro Single submitter acrofacial dysostosis, Weyers type ⚠
p.Arg340Pro Single submitter acrofacial dysostosis, Weyers type ⚠
p.Arg371Ser Single submitter ⚠
p.Arg375Trp Single submitter acrofacial dysostosis, Weyers type ⚠
p.Arg394Gly Single submitter Inborn genetic diseases ⚠
p.Arg396Gly Single submitter Ellis-van Creveld syndrome
p.Arg416Leu Single submitter ⚠
p.Arg49Gly Single submitter Inborn genetic diseases ⚠
p.Arg52Gly Single submitter Inborn genetic diseases ⚠
p.Arg558Lys Single submitter Inborn genetic diseases ⚠
p.Arg558Met Single submitter Ellis-van Creveld syndrome ⚠
p.Arg574Cys Single submitter ⚠
p.Arg574Gly Single submitter Ellis-van Creveld syndrome ⚠
p.Arg576Trp Single submitter Inborn genetic diseases ⚠
p.Arg632Gln Single submitter Ellis-van Creveld syndrome ⚠
p.Arg632Pro Single submitter Ellis-van Creveld syndrome ⚠
p.Arg632Trp Single submitter acrofacial dysostosis, Weyers type ⚠
p.Arg648Gly Single submitter Ellis-van Creveld syndrome ⚠
p.Arg652Cys Single submitter Inborn genetic diseases ⚠
p.Arg663Pro Single submitter acrofacial dysostosis, Weyers type ⚠
p.Arg663Trp Single submitter Inborn genetic diseases ⚠
p.Arg675Trp Single submitter Inborn genetic diseases ⚠
p.Arg678Cys Single submitter ⚠
p.Arg678His Single submitter Ellis-van Creveld syndrome ⚠
p.Arg702Cys Single submitter Ellis-van Creveld syndrome ⚠
p.Arg709Pro Single submitter Inborn genetic diseases ⚠
p.Arg718Gly Single submitter Inborn genetic diseases ⚠
p.Arg799Gly Single submitter Ellis-van Creveld syndrome ⚠
p.Arg826Trp Single submitter acrofacial dysostosis, Weyers type ⚠
p.Arg839Trp Single submitter Ellis-van Creveld syndrome ⚠
p.Arg85Ser Single submitter Inborn genetic diseases ⚠
p.Arg873Cys Single submitter acrofacial dysostosis, Weyers type ⚠
p.Arg873Leu Single submitter ⚠
p.Arg924His Single submitter Inborn genetic diseases ⚠
p.Arg989del Single submitter Ellis-van Creveld syndrome
p.Asn142Lys Single submitter Inborn genetic diseases ⚠
p.Asn196Ser Single submitter acrofacial dysostosis, Weyers type ⚠
p.Asn282Asp Single submitter Inborn genetic diseases ⚠
p.Asn509Lys Single submitter Inborn genetic diseases ⚠
p.Asp100Gly Single submitter acrofacial dysostosis, Weyers type ⚠
p.Asp171Asn Single submitter acrofacial dysostosis, Weyers type ⚠
p.Asp19Val Single submitter Inborn genetic diseases ⚠
p.Asp210Asn Single submitter Inborn genetic diseases ⚠
p.Asp312Gly Single submitter acrofacial dysostosis, Weyers type ⚠
p.Asp359Tyr Single submitter Ellis-van Creveld syndrome ⚠
p.Asp446Tyr Single submitter acrofacial dysostosis, Weyers type ⚠
p.Asp536Gly Single submitter acrofacial dysostosis, Weyers type ⚠
p.Asp536Val Single submitter acrofacial dysostosis, Weyers type ⚠
p.Asp765Gly Single submitter Inborn genetic diseases ⚠
p.Asp885Asn Single submitter Ellis-van Creveld syndrome ⚠
p.Asp953Glu Single submitter Ellis-van Creveld syndrome ⚠
p.Gln166His Single submitter Ellis-van Creveld syndrome ⚠
p.Gln361Arg Single submitter ⚠
p.Gln390Arg Single submitter Inborn genetic diseases ⚠
p.Gln470Arg Single submitter ⚠
p.Gln501Pro Single submitter ⚠