CEP120 — 640 ClinVar variants

All ClinVar germline CEP120 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 269 flagged for review →

19 Pathogenic · 4 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 22 Conflicting · 68 Benign · 15 Benign/Likely benign · 237 Likely benign · 257 Uncertain significance

Full CEP120 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 269

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 13

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

CEP120 p.Ala102Thr Conflicting Single submitter
Inborn genetic diseases
CEP120 p.Arg869His Conflicting Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gln725His Conflicting Single submitter
Inborn genetic diseases
CEP120 p.Glu778Asp Conflicting Single submitter
Inborn genetic diseases
CEP120 p.Leu212Val Conflicting Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Lys373Asn Conflicting Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Met517Leu Conflicting Single submitter
Inborn genetic diseases
CEP120 p.Pro394Ser Conflicting Single submitter
Inborn genetic diseases
CEP120 p.Pro634Ala Conflicting Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ser616Pro Conflicting Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Thr120Ala Conflicting Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Tyr94Asn Conflicting Single submitter
Inborn genetic diseases
CEP120 p.Val625Ile Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 134

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

CEP120 p.Ala425Gly Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg611Pro Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg646His Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg722Pro Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Arg897Gln Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Asn242His Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Asn299Ser Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Asn435Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Asp397Ala Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Asp6Tyr Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Glu306Lys Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Glu778Gly Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gly377Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Gly93Asp Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ile167Val Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ile707Val Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ile924Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Lys106Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Lys22Arg Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Lys929Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Met490Thr Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Met880Leu Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Thr187Ile Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Thr562Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Ala131Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ala157Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ala322Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ala40Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ala440Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ala449Pro Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ala511Pro Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ala635Val Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ala64Val Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ala727Val Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Arg260Cys Uncertain significance Single submitter
CEP120 p.Arg611Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg611His Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg646Gly Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Arg692Gln Uncertain significance Single submitter
CEP120 p.Arg72Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Asn236Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Asn236Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Asn821Ser Uncertain significance Single submitter
Joubert syndrome 31
CEP120 p.Asp135Asn Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Asp666His Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Asp753Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Asp761Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Asp806Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Asp891Val Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Asp902Ala Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Asp972Asn Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Cys186Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Cys208Tyr Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Cys637Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Cys762Gly Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Gln216His Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Gln354His Uncertain significance Single submitter
Joubert syndrome 31
CEP120 p.Gln38Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gln674Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Glu133Gln Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Glu246Lys Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Glu401Ala Uncertain significance Single submitter
CEP120 p.Glu51Gln Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Glu55Val Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Glu579Asp Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Glu767Asp Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Glu914Lys Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gly147Glu Uncertain significance Single submitter
CEP120 p.Gly153Glu Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Gly281Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gly36Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gly621Val Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gly940Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Gly959Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.His361Tyr Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.His464Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.His764Asp Uncertain significance Single submitter
CEP120 p.Ile14Val Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ile180Val Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ile258Val Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ile468Thr Uncertain significance Single submitter
CEP120 p.Ile615Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ile796Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ile903Val Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ile95Val Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Leu265Phe Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Leu375Pro Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Leu858Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Leu858Pro Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Leu882Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Lys123Met Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Lys318Gln Uncertain significance Single submitter
CEP120 p.Lys365Glu Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Lys701Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Lys76Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Lys89Arg Uncertain significance Single submitter
CEP120 p.Phe220Tyr Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Phe454Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Phe483Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Pro150Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Pro156Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Pro381Gln Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Pro393Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Pro415Leu Uncertain significance Single submitter
CEP120 p.Pro488Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Pro506Arg Uncertain significance Single submitter
CEP120 p.Pro74Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Pro812Gln Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser13Tyr Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ser347Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser392Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser406Ile Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser441Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser597Cys Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser728Asn Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ser982Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser985Asn Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Thr187Pro Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Thr231Ala Uncertain significance Single submitter
CEP120 p.Thr288Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Thr368Ala Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Thr41Ala Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Thr516Ala Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Thr562Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Thr958Met Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Tyr918Phe Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Val29Ile Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Val503Ile Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Val729Met Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Val766Ile Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Val85Ile Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Val936Gly Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Val96Ile Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg72Cys Uncertain significance No assertion criteria
Joubert syndrome 31

Predictors split 122

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

CEP120 p.Ala308Pro Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg18Trp Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg574His Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg611Cys Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Arg746Gln Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Arg782Cys Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg782His Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg815Cys Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg815His Likely benign Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg947His Benign Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg976Gly Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gln587Leu Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gln745His Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gln873His Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Gln879His Benign Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Glu896Lys Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ile458Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Ile92Met Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Leu602Val Benign Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Leu708Val Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Leu82Phe Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Lys121Arg Benign/Likely benign Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Lys137Glu Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Lys371Arg Benign/Likely benign Multiple submitters
Inborn genetic diseases
CEP120 p.Pro109Ser Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Ser384Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Ser728Gly Benign/Likely benign Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Thr331Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Thr54Ala Uncertain significance Multiple submitters
Inborn genetic diseases
CEP120 p.Val581Ala Uncertain significance Multiple submitters
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ala32Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ala549Val Conflicting Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ala682Ser Uncertain significance Single submitter
Joubert syndrome 31
CEP120 p.Ala887Thr Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg18Gln Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Arg23Cys Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Arg23His Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg251Cys Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Arg253His Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Arg260Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg498Gln Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg498Trp Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg563Cys Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg574Cys Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg611Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Arg722Gln Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Arg735Gly Conflicting Single submitter
Inborn genetic diseases
CEP120 p.Arg744His Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Arg756Cys Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg782Pro Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Arg832Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg850Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg869Cys Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg883Cys Conflicting Single submitter
Inborn genetic diseases
CEP120 p.Arg883His Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg904Ile Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Arg947Cys Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Arg966Gln Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Arg973Gly Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Asn232Ser Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Asn908Tyr Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Asp942Asn Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gln179Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Gln201Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Gln266Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gln664Glu Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Gln664Lys Conflicting Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gln71Arg Uncertain significance Single submitter
CEP120 p.Gln724Pro Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Glu104Gly Uncertain significance Single submitter
CEP120 p.Glu327Ala Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Glu650Gln Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Glu720Asp Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Glu835Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Glu878Val Likely benign Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Gly276Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.His26Tyr Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.His66Tyr Conflicting Single submitter
Inborn genetic diseases
CEP120 p.His764Gln Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.His764Tyr Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ile14Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ile445Phe Conflicting Single submitter
Inborn genetic diseases
CEP120 p.Ile489Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ile489Val Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ile667Thr Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ile820Val Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ile95Met Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Leu367Phe Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Leu553Phe Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Leu649Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Leu716Val Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Leu830Phe Uncertain significance Single submitter
CEP120 p.Leu901Phe Likely benign Single submitter
Inborn genetic diseases
CEP120 p.Leu945Trp Uncertain significance Single submitter
CEP120 p.Lys268Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Lys293Met Uncertain significance Single submitter
CEP120 p.Lys537Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Lys561Glu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Met27Ile Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Met501Leu Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Pro213Ala Uncertain significance Single submitter
CEP120 p.Pro217Ser Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Pro234Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Pro43Arg Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser295Asn Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser295Gly Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser345Phe Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ser347Cys Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser422Phe Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser541Asn Uncertain significance Single submitter
CEP120 p.Ser541Gly Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Ser554Cys Uncertain significance Single submitter
CEP120 p.Ser5Tyr Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Ser921Phe Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Thr296Ile Uncertain significance Single submitter
Inborn genetic diseases
CEP120 p.Thr331Pro Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Thr643Arg Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Thr648Met Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Val170Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Val495Ala Conflicting Single submitter
Inborn genetic diseases
CEP120 p.Val581Leu Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly
CEP120 p.Val581Met Uncertain significance Single submitter
short-rib thoracic dysplasia 13 with or without polydactyly

All CEP120 variants

Pathogenic 19

p.Arg722Ter Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Arg850Ter Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Asp344fs Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln520Ter Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln817Ter Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln915Ter Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Glu676Ter Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Glu736fs Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu225delinsPhePhePhePhePhePhePheXaaXaaXaaXaaThrSerTer Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu39Ter Single submitter CEP120-related disorder
p.Lys793Ter Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ser254fs Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ser392Ter Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ser597fs Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Thr562fs Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ile975Ser No assertion criteria short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu726Pro No assertion criteria Joubert syndrome 31
p.Ser380fs No assertion criteria Joubert syndrome 31
p.Val194Ala No assertion criteria Joubert syndrome 31

Pathogenic/Likely pathogenic 4

p.Ala199Pro Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln775Ter Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu466fs Multiple submitters Joubert syndrome 31
p.Lys539Ter Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly

Likely pathogenic 18

c.1039-2A>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1255+1G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1255+1G>T Single submitter
c.1861-2A>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2013+1G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2014-2A>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2358+1G>C Single submitter
c.2580+2T>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.321+1G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.321+2T>A Single submitter CEP120-related disorder
c.50-2113_206+103del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Arg151Ter Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln38fs Single submitter
p.Gln808Ter Single submitter
p.Ile196Thr Single submitter
p.Leu28_Val29insTer Single submitter Joubert syndrome 31
p.Tyr844fs Single submitter
p.Gly181Ter No assertion criteria CEP120-related disorder

Conflicting classifications of pathogenicity 22

c.2580+6T>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ala102Thr Single submitter Inborn genetic diseases ⚠
p.Ala549Val Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg735Gly Single submitter Inborn genetic diseases ⚠
p.Arg869His Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg883Cys Single submitter Inborn genetic diseases ⚠
p.Arg973Ter Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln664Lys Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gln725His Single submitter Inborn genetic diseases ⚠
p.Glu778Asp Single submitter Inborn genetic diseases ⚠
p.His66Tyr Single submitter Inborn genetic diseases ⚠
p.Ile445Phe Single submitter Inborn genetic diseases ⚠
p.Leu212Val Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Lys373Asn Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Met517Leu Single submitter Inborn genetic diseases ⚠
p.Pro394Ser Single submitter Inborn genetic diseases ⚠
p.Pro634Ala Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ser616Pro Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Thr120Ala Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Tyr94Asn Single submitter Inborn genetic diseases ⚠
p.Val495Ala Single submitter Inborn genetic diseases ⚠
p.Val625Ile Single submitter Inborn genetic diseases ⚠

Benign 68

c.1431-10_1431-9del Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-11_1431-9del Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-31dup Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-7del Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-9A>T Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-18_2104-13del Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-30dup Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.2581-18= Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Arg947His Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Asp942= Multiple submitters Joubert syndrome 31
p.Gln879His Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.His272= Multiple submitters Joubert syndrome 31
p.Leu602Val Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Leu712Phe Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Pro369Ser Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1038+21A>G Single submitter
c.1039-19A>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1039-3del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1255+121A>G Single submitter
c.1255+183G>C Single submitter
c.1256-146T>C Single submitter
c.1431-10del Single submitter
c.1431-207G>A Single submitter
c.1431-9_1431-5del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-9_1431-8insTTT Single submitter
c.1431-9_1431-8insTTTTTTTTTTTT Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1581-261G>A Single submitter
c.1581-96A>T Single submitter
c.1763+250= Single submitter
c.2013+90G>A Single submitter
c.2014-124G>T Single submitter
c.2014-126del Single submitter
c.2014-145dup Single submitter
c.2014-14del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2014-14dup Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2014-150C>A Single submitter
c.2014-242T>C Single submitter
c.206+134_206+135insAAGT Single submitter
c.2104-13del Single submitter
c.2196+190del Single submitter
c.2196+41G>A Single submitter
c.2197-14G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2358+14C>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2359-8dup Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2481+3100G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2581-124del Single submitter
c.2581-316A>G Single submitter
c.2726+15del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2726+290A>G Single submitter
c.321+249G>A Single submitter
c.322-124dup Single submitter
c.322-8T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.463+248T>C Single submitter
c.463+38T>A Single submitter
c.50-110G>T Single submitter
c.50-207T>C Single submitter
c.50-217C>A Single submitter
c.50-86_50-85del Single submitter
c.612+95dup Single submitter
c.613-185C>T Single submitter
c.613-39A>T Single submitter
c.810+7A>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.810+81G>A Single submitter
c.811-107A>T Single submitter
c.811-140C>A Single submitter
c.811-15dup Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.811-271_811-266del Single submitter
c.*59A>C Single submitter

Benign/Likely benign 15

c.1256-18A>G Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-11_1431-10dup Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-12_1431-9del Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-7A>T Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1764-6T>C Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.2358+20A>G Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.2726+14A>T Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Arg260His Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln204Lys Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu557= Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Lys121Arg Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Lys371Arg Multiple submitters Inborn genetic diseases ⚠
p.Ser618= Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Ser728Gly Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Thr715= Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly

Likely benign 237

c.1038+20C>T Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1255+40T>C Multiple submitters
c.1431-13_1431-9del Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-8A>T Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1581-6C>T Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.2014-26C>A Multiple submitters
c.207-25T>G Multiple submitters
c.2104-13T>A Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-7A>T Multiple submitters
c.2481+71A>T Multiple submitters
c.321+14G>A Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Arg815His Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gln38= Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Ile10Val Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Ile528= Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Ile975= Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu114= Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu321= Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu740= Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Thr101= Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.1038+13C>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1038+18T>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1038+254C>T Single submitter
c.1255+272G>A Single submitter
c.1255+7T>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1430+7T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-10T>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-11_1431-10del Single submitter
c.1431-11T>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-12T>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-14_1431-9del Single submitter
c.1431-15_1431-9del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-18_1431-9del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-21_1431-10del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-255G>A Single submitter
c.1431-4C>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-4C>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-7dup Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-8_1431-7delinsT Single submitter
c.1431-9_1431-6del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-9_1431-7del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-9_1431-7delinsTAT Single submitter
c.1431-9_1431-8insT Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-9_1431-8insTTTTTTTT Single submitter
c.1431-9_1431-8insTTTTTTTTTTTTTTTTTTT Single submitter
c.1431-91A>C Single submitter
c.1580+11_1580+12dup Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1580+14T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1581-19A>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1763+13A>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1763+15A>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1763+7C>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1764-9T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1860+13G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1861-12T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1861-17T>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1861-17T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2013+11A>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2013+14T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2013+192C>T Single submitter
c.2014-13C>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2014-13C>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2014-20T>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.206+130C>T Single submitter
c.207-12G>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.207-14_207-13del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.207-19A>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2103+13G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2103+18A>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2103+20_2103+23del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2103+20T>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2103+7A>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-12_2104-11insTAC Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-12A>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-12A>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-12A>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-12dup Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-13_2104-12insTA Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-14_2104-13del Single submitter
c.2104-15_2104-14insG Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-15T>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-30_2104-28dup Single submitter
c.2104-4T>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-9A>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2104-9A>T Single submitter
c.2196+11C>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2196+12G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2196+17T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2196+8A>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2197-10T>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2197-20A>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2197-8G>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2358+10C>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2358+11G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2358+18T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2358+8A>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2358+9A>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2359-8T>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2481+20G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2481+20G>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2482-20A>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2580+10T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2581-16_2581-13del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2581-16C>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2726+10C>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2726+13A>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2726+16G>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2726+19T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2726+20T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2727-16G>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2727-38C>T Single submitter
c.321+25A>G Single submitter
c.322-6C>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.463+77T>C Single submitter
c.464-18G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.464-19C>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.464-75_464-71del Single submitter
c.464-8C>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.464-8C>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.464-9T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.49+19G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.49+276C>G Single submitter
c.49+35C>A Single submitter
c.49+81C>T Single submitter
c.49+9C>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.50-10G>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.50-12C>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.50-17A>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.50-18T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.612+29dup Single submitter
c.612+62C>G Single submitter
c.613-118G>A Single submitter
c.613-17T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.613-7T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.810+19C>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.810+20G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.811-14C>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.811-7A>T Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.-313G>A Single submitter
c.-31C>T Single submitter
c.*247T>A Single submitter
p.Ala549= Single submitter
p.Ala57= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ala64= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ala653= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ala790= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ala886= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Arg18= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Arg340= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Arg574= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Arg735= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Asn240= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Asn435= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln300His Single submitter Inborn genetic diseases
p.Gln571Arg Single submitter Inborn genetic diseases
p.Gln626= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln642= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln674= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln71= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln78= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln802= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gln912= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Glu184= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Glu358= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Glu496= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Glu59= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Glu686= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Glu720= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Glu876= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Glu878Val Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Glu977= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gly176= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gly294= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gly36= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Gly927= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.His389= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.His933= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.His963= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ile14= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ile641= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ile95= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu202= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu263= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu375= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu476= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu530= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu602= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu607= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu655= Single submitter
p.Leu657= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu70= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu768= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu771= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu842= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu9= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Leu901Phe Single submitter Inborn genetic diseases ⚠
p.Leu948= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Lys106= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Lys371= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Lys444= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Lys561= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Lys689= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Lys738= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Phe20= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Phe483= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Phe514= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Phe525Ser Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Pro207= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Pro387= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Pro448= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Pro471= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Pro629= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ser224= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ser255= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ser345= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ser384= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ser441= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ser567= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ser589= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ser696= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Ter987= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Thr105Ala Single submitter Inborn genetic diseases
p.Thr134= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Thr288= Single submitter
p.Thr374= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Thr516= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Thr54= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Thr648= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Thr895= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Tyr509= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Val305= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Val334= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Val729= Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.1431-12_1431-10dup No assertion criteria CEP120-related disorder
c.1431-16_1431-10del No assertion criteria CEP120-related disorder
c.1431-18_1431-10del No assertion criteria
c.1431-5dup No assertion criteria CEP120-related disorder

Uncertain significance 257

c.1038+6T>C Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.2481+6C>T Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
c.612+5G>A Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Ala308Pro Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ala425Gly Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg18Trp Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg574His Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg611Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg611Pro Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg646His Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg722Pro Multiple submitters Inborn genetic diseases ⚠
p.Arg746Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg782Cys Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg782His Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg815Cys Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg897Gln Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg976Gly Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Asn242His Multiple submitters Inborn genetic diseases ⚠
p.Asn299Ser Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Asn435Ser Multiple submitters Inborn genetic diseases ⚠
p.Asp397Ala Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Asp6Tyr Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gln587Leu Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gln745His Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gln873His Multiple submitters Inborn genetic diseases ⚠
p.Glu306Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu778Gly Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Glu896Lys Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gly377Arg Multiple submitters Inborn genetic diseases ⚠
p.Gly93Asp Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ile167Val Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ile458Val Multiple submitters Inborn genetic diseases ⚠
p.Ile707Val Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ile924Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile92Met Multiple submitters Inborn genetic diseases ⚠
p.Leu708Val Multiple submitters Inborn genetic diseases ⚠
p.Leu82Phe Multiple submitters Inborn genetic diseases ⚠
p.Lys106Gln Multiple submitters Inborn genetic diseases ⚠
p.Lys137Glu Multiple submitters Inborn genetic diseases ⚠
p.Lys22Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys929Gln Multiple submitters Inborn genetic diseases ⚠
p.Met1Val Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly
p.Met490Thr Multiple submitters Inborn genetic diseases ⚠
p.Met880Leu Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Pro109Ser Multiple submitters Inborn genetic diseases ⚠
p.Ser384Tyr Multiple submitters Inborn genetic diseases ⚠
p.Thr187Ile Multiple submitters Inborn genetic diseases ⚠
p.Thr331Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr54Ala Multiple submitters Inborn genetic diseases ⚠
p.Thr562Ala Multiple submitters Inborn genetic diseases ⚠
p.Val581Ala Multiple submitters short-rib thoracic dysplasia 13 with or without polydactyly ⚠
c.1431-6T>C Single submitter Inborn genetic diseases
c.1763+4A>G Single submitter
c.2196+5G>A Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2358+3T>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2482-3005_2482-2949del Single submitter
c.2482-3T>C Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.2580+4T>G Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
c.-37C>G Single submitter
c.-38C>G Single submitter
p.Ala131Ser Single submitter Inborn genetic diseases ⚠
p.Ala157Thr Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ala322Thr Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ala32Thr Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ala40Ser Single submitter Inborn genetic diseases ⚠
p.Ala440Thr Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ala449Pro Single submitter Inborn genetic diseases ⚠
p.Ala511Pro Single submitter Inborn genetic diseases ⚠
p.Ala635Val Single submitter Inborn genetic diseases ⚠
p.Ala64Val Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ala682Ser Single submitter Joubert syndrome 31 ⚠
p.Ala727Val Single submitter Inborn genetic diseases ⚠
p.Ala887Thr Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg18Gln Single submitter Inborn genetic diseases ⚠
p.Arg23Cys Single submitter Inborn genetic diseases ⚠
p.Arg23His Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg251Cys Single submitter Inborn genetic diseases ⚠
p.Arg253His Single submitter Inborn genetic diseases ⚠
p.Arg260Cys Single submitter ⚠
p.Arg260Leu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg498Gln Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg498Trp Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg563Cys Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg574Cys Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg611Gly Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg611His Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg611Leu Single submitter Inborn genetic diseases ⚠
p.Arg646Gly Single submitter Inborn genetic diseases ⚠
p.Arg692Gln Single submitter ⚠
p.Arg722Gln Single submitter Inborn genetic diseases ⚠
p.Arg72Ser Single submitter Inborn genetic diseases ⚠
p.Arg744His Single submitter Inborn genetic diseases ⚠
p.Arg756Cys Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg782Pro Single submitter Inborn genetic diseases ⚠
p.Arg832Gly Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg850Gly Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg869Cys Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg883His Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg904Ile Single submitter Inborn genetic diseases ⚠
p.Arg947Cys Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg966Gln Single submitter Inborn genetic diseases ⚠
p.Arg973Gly Single submitter Inborn genetic diseases ⚠
p.Asn232Ser Single submitter Inborn genetic diseases ⚠
p.Asn236Ser Single submitter Inborn genetic diseases ⚠
p.Asn236Thr Single submitter Inborn genetic diseases ⚠
p.Asn821Ser Single submitter Joubert syndrome 31 ⚠
p.Asn908Tyr Single submitter Inborn genetic diseases ⚠
p.Asp135Asn Single submitter Inborn genetic diseases ⚠
p.Asp666His Single submitter Inborn genetic diseases ⚠
p.Asp753Glu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Asp761Glu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Asp806Glu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Asp891Val Single submitter Inborn genetic diseases ⚠
p.Asp902Ala Single submitter Inborn genetic diseases ⚠
p.Asp942Asn Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Asp972Asn Single submitter Inborn genetic diseases ⚠
p.Cys186Arg Single submitter Inborn genetic diseases ⚠
p.Cys208Tyr Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Cys637Arg Single submitter Inborn genetic diseases ⚠
p.Cys637Val Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Cys762Gly Single submitter Inborn genetic diseases ⚠
p.Gln179Arg Single submitter Inborn genetic diseases ⚠
p.Gln201Arg Single submitter Inborn genetic diseases ⚠
p.Gln216His Single submitter Inborn genetic diseases ⚠
p.Gln266Arg Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gln354His Single submitter Joubert syndrome 31 ⚠
p.Gln38Leu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gln664Glu Single submitter Inborn genetic diseases ⚠
p.Gln674Arg Single submitter Inborn genetic diseases ⚠
p.Gln71Arg Single submitter ⚠
p.Gln724Pro Single submitter Inborn genetic diseases ⚠
p.Glu104Gly Single submitter ⚠
p.Glu133Gln Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Glu246Lys Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Glu327Ala Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Glu401Ala Single submitter ⚠
p.Glu51Gln Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Glu55Val Single submitter Inborn genetic diseases ⚠
p.Glu579Asp Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Glu650Gln Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Glu720Asp Single submitter Inborn genetic diseases ⚠
p.Glu743_Gln745del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Glu767Asp Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Glu835Gly Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Glu914Lys Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gly147Glu Single submitter ⚠
p.Gly153Glu Single submitter Inborn genetic diseases ⚠
p.Gly276Glu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gly281Glu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gly36Arg Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gly621Val Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Gly940Ser Single submitter Inborn genetic diseases ⚠
p.Gly959Ser Single submitter Inborn genetic diseases ⚠
p.His26Tyr Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.His361Tyr Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.His464Leu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.His764Asp Single submitter ⚠
p.His764Gln Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.His764Tyr Single submitter Inborn genetic diseases ⚠
p.Ile14Leu Single submitter Inborn genetic diseases ⚠
p.Ile14Val Single submitter Inborn genetic diseases ⚠
p.Ile180Val Single submitter Inborn genetic diseases ⚠
p.Ile258Val Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ile468Thr Single submitter ⚠
p.Ile489Leu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ile489Val Single submitter Inborn genetic diseases ⚠
p.Ile615Leu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ile667Thr Single submitter Inborn genetic diseases ⚠
p.Ile796Thr Single submitter Inborn genetic diseases ⚠
p.Ile820Val Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ile903Val Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ile95Met Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ile95Val Single submitter Inborn genetic diseases ⚠
p.Leu265Phe Single submitter Inborn genetic diseases ⚠
p.Leu367Phe Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Leu375Pro Single submitter Inborn genetic diseases ⚠
p.Leu553Phe Single submitter Inborn genetic diseases ⚠
p.Leu649Ser Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Leu716Val Single submitter Inborn genetic diseases ⚠
p.Leu830Phe Single submitter ⚠
p.Leu858Arg Single submitter Inborn genetic diseases ⚠
p.Leu858Pro Single submitter Inborn genetic diseases ⚠
p.Leu882Arg Single submitter Inborn genetic diseases ⚠
p.Leu945Trp Single submitter ⚠
p.Lys123Met Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Lys268Glu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Lys293Met Single submitter ⚠
p.Lys318Gln Single submitter ⚠
p.Lys365Glu Single submitter Inborn genetic diseases ⚠
p.Lys537Glu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Lys561Glu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Lys701Thr Single submitter Inborn genetic diseases ⚠
p.Lys76Glu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Lys89Arg Single submitter ⚠
p.Met27Ile Single submitter Inborn genetic diseases ⚠
p.Met501Leu Single submitter Inborn genetic diseases ⚠
p.Phe220Tyr Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Phe454Ser Single submitter Inborn genetic diseases ⚠
p.Phe483Leu Single submitter Inborn genetic diseases ⚠
p.Pro150Leu Single submitter Inborn genetic diseases ⚠
p.Pro156Ser Single submitter Inborn genetic diseases ⚠
p.Pro213Ala Single submitter ⚠
p.Pro217Ser Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Pro234Arg Single submitter Inborn genetic diseases ⚠
p.Pro381Gln Single submitter Inborn genetic diseases ⚠
p.Pro393Thr Single submitter Inborn genetic diseases ⚠
p.Pro415Leu Single submitter ⚠
p.Pro43Arg Single submitter Inborn genetic diseases ⚠
p.Pro488Ser Single submitter Inborn genetic diseases ⚠
p.Pro494del Single submitter short-rib thoracic dysplasia 13 with or without polydactyly
p.Pro506Arg Single submitter ⚠
p.Pro74Thr Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Pro812Gln Single submitter Inborn genetic diseases ⚠
p.Ser13Tyr Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ser295Asn Single submitter Inborn genetic diseases ⚠
p.Ser295Gly Single submitter Inborn genetic diseases ⚠
p.Ser345Phe Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ser347Cys Single submitter Inborn genetic diseases ⚠
p.Ser347Thr Single submitter Inborn genetic diseases ⚠
p.Ser392Leu Single submitter Inborn genetic diseases ⚠
p.Ser406Ile Single submitter Inborn genetic diseases ⚠
p.Ser422Phe Single submitter Inborn genetic diseases ⚠
p.Ser441Leu Single submitter Inborn genetic diseases ⚠
p.Ser541Asn Single submitter ⚠
p.Ser541Gly Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ser554Cys Single submitter ⚠
p.Ser597Cys Single submitter Inborn genetic diseases ⚠
p.Ser5Tyr Single submitter Inborn genetic diseases ⚠
p.Ser728Asn Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Ser921Phe Single submitter Inborn genetic diseases ⚠
p.Ser982Arg Single submitter Inborn genetic diseases ⚠
p.Ser985Asn Single submitter Inborn genetic diseases ⚠
p.Thr187Pro Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Thr231Ala Single submitter ⚠
p.Thr288Ser Single submitter Inborn genetic diseases ⚠
p.Thr296Ile Single submitter Inborn genetic diseases ⚠
p.Thr331Pro Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Thr368Ala Single submitter Inborn genetic diseases ⚠
p.Thr41Ala Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Thr516Ala Single submitter Inborn genetic diseases ⚠
p.Thr562Ser Single submitter Inborn genetic diseases ⚠
p.Thr643Arg Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Thr648Met Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Thr958Met Single submitter Inborn genetic diseases ⚠
p.Tyr918Phe Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Val170Leu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Val29Ile Single submitter Inborn genetic diseases ⚠
p.Val503Ile Single submitter Inborn genetic diseases ⚠
p.Val581Leu Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Val581Met Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Val729Met Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Val766Ile Single submitter Inborn genetic diseases ⚠
p.Val85Ile Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Val936Gly Single submitter Inborn genetic diseases ⚠
p.Val96Ile Single submitter short-rib thoracic dysplasia 13 with or without polydactyly ⚠
p.Arg72Cys No assertion criteria Joubert syndrome 31 ⚠
p.Leu351Ter No assertion criteria