WNT10A — 561 ClinVar variants
All ClinVar germline WNT10A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 188 flagged for review →
56 Pathogenic · 24 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 39 Conflicting · 2 Benign · 5 Benign/Likely benign · 230 Likely benign · 179 Uncertain significance
Full WNT10A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 188
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
WNT10A p.Arg128Gln
Pathogenic/Likely pathogenic
Multiple submitters
tooth agenesis, selective, 4
Predictors agree, ClinVar conflicts 24
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
WNT10A p.Ala135Thr
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Ala21Gly
Conflicting
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Arg104His
Conflicting
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Arg113Cys
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Arg171Cys
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Arg171His
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Arg184His
Conflicting
Single submitter
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Arg360Leu
Conflicting
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Asn106Lys
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Asn363His
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Asp217Asn
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Asp217Gly
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Cys372Gly
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Cys400Ser
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Gly165Arg
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Gly213Ser
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Gly221Arg
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Gly266Ser
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Ile136Met
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Met218Val
Conflicting
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Phe345Ser
Conflicting
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Pro50Leu
Conflicting
Single submitter
ectodermal dysplasia WNT10A related
-
WNT10A p.Ser270Arg
Conflicting
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Trp277Cys
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
Predictors lean, ClinVar uncertain 125
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
WNT10A p.Ala148Val
Uncertain significance
Multiple submitters
odonto-onycho-dermal dysplasia
-
WNT10A p.Ala288Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WNT10A p.Ala92Val
Uncertain significance
Multiple submitters
odonto-onycho-dermal dysplasia
-
WNT10A p.Arg13Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WNT10A p.Arg223Cys
Uncertain significance
Multiple submitters
odonto-onycho-dermal dysplasia
-
WNT10A p.Arg223His
Uncertain significance
Multiple submitters
tooth agenesis, selective, 4
-
WNT10A p.Arg223Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WNT10A p.Arg260Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WNT10A p.Arg305His
Uncertain significance
Multiple submitters
odonto-onycho-dermal dysplasia
-
WNT10A p.Arg388Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WNT10A p.Cys394Tyr
Uncertain significance
Multiple submitters
odonto-onycho-dermal dysplasia
-
WNT10A p.Cys404Trp
Uncertain significance
Multiple submitters
tooth agenesis, selective, 4
- WNT10A p.Cys96Arg Uncertain significance Multiple submitters
-
WNT10A p.Gln71Leu
Uncertain significance
Multiple submitters
tooth agenesis, selective, 4
-
WNT10A p.Gly316Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WNT10A p.Leu67Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WNT10A p.Lys263Asn
Uncertain significance
Multiple submitters
tooth agenesis, selective, 4
-
WNT10A p.Pro20Gln
Uncertain significance
Multiple submitters
odonto-onycho-dermal dysplasia
-
WNT10A p.Pro350Leu
Uncertain significance
Multiple submitters
tooth agenesis, selective, 4
-
WNT10A p.Pro51Leu
Uncertain significance
Multiple submitters
odonto-onycho-dermal dysplasia
-
WNT10A p.Ser146Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
WNT10A p.Val81Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
- WNT10A p.Ala137Pro Uncertain significance Single submitter
- WNT10A p.Ala144Pro Uncertain significance Single submitter
-
WNT10A p.Ala161Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Ala181Val
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Ala253Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Ala317Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Ala331Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- WNT10A p.Arg104Pro Uncertain significance Single submitter
-
WNT10A p.Arg11Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- WNT10A p.Arg125Ser Uncertain significance Single submitter
-
WNT10A p.Arg163Gln
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Arg232Gln
Uncertain significance
Single submitter
tooth agenesis, selective, 4
- WNT10A p.Arg284Leu Uncertain significance Single submitter
-
WNT10A p.Arg293Cys
Uncertain significance
Single submitter
Abnormality of the dentition
- WNT10A p.Arg330Gln Uncertain significance Single submitter
-
WNT10A p.Arg330Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Arg348Cys
Uncertain significance
Single submitter
Abnormality of the dentition
-
WNT10A p.Arg351Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Arg385His
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Arg38Trp
Uncertain significance
Single submitter
WNT10A-related disorder
-
WNT10A p.Arg395Cys
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Arg408His
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Arg48Cys
Uncertain significance
Single submitter
tooth agenesis, selective, 4
- WNT10A p.Arg69Gln Uncertain significance Single submitter
-
WNT10A p.Arg70Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Arg7Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Asn306His
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Asn56Asp
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Cys107Ser
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Cys107Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Cys214Arg
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Cys264Phe
Uncertain significance
Single submitter
tooth agenesis, selective, 4
- WNT10A p.Cys276Phe Uncertain significance Single submitter
-
WNT10A p.Cys346Arg
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Cys362Phe
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Cys376Ser
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Cys404Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- WNT10A p.Glu167Gln Uncertain significance Single submitter
-
WNT10A p.Glu73Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Gly185Asp
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
- WNT10A p.Gly191Glu Uncertain significance Single submitter
-
WNT10A p.Gly307Arg
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Gly308Val
Uncertain significance
Single submitter
Inborn genetic diseases
- WNT10A p.Gly313Arg Uncertain significance Single submitter
-
WNT10A p.Gly316Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Gly323Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Gly380Ser
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Gly88Cys
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Gly88Ser
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.His175Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.His195Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.His98Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.His98Pro
Uncertain significance
Single submitter
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Ile238Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Leu310Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Lys173Asn
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
- WNT10A p.Lys186Thr Uncertain significance Single submitter
-
WNT10A p.Met375Arg
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Met375Thr
Uncertain significance
Single submitter
tooth agenesis, selective, 4
- WNT10A p.Phe224Ser Uncertain significance Single submitter
- WNT10A p.Phe228Leu Uncertain significance Single submitter
-
WNT10A p.Phe27Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Phe294Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Phe345Leu
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Pro18Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Pro318His
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Pro320Arg
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Pro320Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- WNT10A p.Pro327Gln Uncertain significance Single submitter
- WNT10A p.Pro51Arg Uncertain significance Single submitter
-
WNT10A p.Ser108Leu
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Ser124Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Ser208Phe
Uncertain significance
Single submitter
tooth agenesis, selective, 4
- WNT10A p.Ser215Arg Uncertain significance Single submitter
-
WNT10A p.Ser268Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Ser354Leu
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Ser366Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Ser3Cys
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Thr200Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- WNT10A p.Thr275Ala Uncertain significance Single submitter
-
WNT10A p.Thr280Met
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Thr280Ser
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Trp105Cys
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Val145Ala
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Val402Met
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Ala4Thr
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Ala4Val
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Arg104Ser
Uncertain significance
No assertion criteria
tooth agenesis, selective, 4
-
WNT10A p.Arg328Cys
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Arg348Ser
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Cys376Phe
Uncertain significance
No assertion criteria
tooth agenesis, selective, 4
-
WNT10A p.Gly308Ser
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Gly356Ala
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.His98Tyr
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Leu10Arg
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Leu154Met
Uncertain significance
No assertion criteria
WNT10A-related disorder
-
WNT10A p.Leu299Arg
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Pro314Gln
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Pro325Leu
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Pro37Ser
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Pro41Leu
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Ser130Arg
Uncertain significance
No assertion criteria
WNT10A-related disorder
-
WNT10A p.Val279Gly
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
Predictors split 38
The independent predictors disagree with each other — read with care.
-
WNT10A p.Asn306Lys
Likely benign
Multiple submitters
odonto-onycho-dermal dysplasia
-
WNT10A p.Glu347Ala
Uncertain significance
Multiple submitters
odonto-onycho-dermal dysplasia
-
WNT10A p.Gly126Ser
Likely pathogenic
Multiple submitters
odonto-onycho-dermal dysplasia
-
WNT10A p.Pro281Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- WNT10A p.Ala137Thr Uncertain significance Single submitter
-
WNT10A p.Ala240Val
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Arg163Trp
Conflicting
Single submitter
WNT10A-related disorder
-
WNT10A p.Arg172Trp
Conflicting
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Arg232Trp
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Arg243Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Arg259Trp
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Arg70Trp
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Arg77His
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Asn304His
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Asp335Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Asp370Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Glu233Lys
Conflicting
Single submitter
tooth agenesis, selective, 4
- WNT10A p.Glu390Lys Uncertain significance Single submitter
-
WNT10A p.His239Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Ile116Thr
Conflicting
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Ile300Phe
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
- WNT10A p.Ile44Thr Uncertain significance Single submitter
- WNT10A p.Leu384Gln Uncertain significance Single submitter
-
WNT10A p.Met218Arg
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Met72Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Phe224Leu
Uncertain significance
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Phe339Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Pro117Ser
Uncertain significance
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Pro281Ala
Conflicting
Single submitter
Inborn genetic diseases
-
WNT10A p.Ser231Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Tyr118Cys
Likely pathogenic
Single submitter
tooth agenesis, selective, 4
-
WNT10A p.Val249Ile
Likely benign
Single submitter
odonto-onycho-dermal dysplasia
-
WNT10A p.Val54Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
WNT10A p.Arg260Trp
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Gln386His
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Leu55Phe
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Pro117Arg
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
-
WNT10A p.Pro65Leu
Uncertain significance
No assertion criteria
Schöpf-Schulz-Passarge syndrome
All WNT10A variants
Pathogenic 56
- c.376+1G>A Multiple submitters odonto-onycho-dermal dysplasia
- p.Arg248Ter Multiple submitters Inborn genetic diseases
- p.Gln178fs Multiple submitters odonto-onycho-dermal dysplasia
- p.Glu222Ter Multiple submitters odonto-onycho-dermal dysplasia
- p.Ser268Ter Multiple submitters WNT10A-related disorder
- p.Ala21fs Single submitter odonto-onycho-dermal dysplasia
- p.Ala355fs Single submitter odonto-onycho-dermal dysplasia
- p.Ala85fs Single submitter odonto-onycho-dermal dysplasia
- p.Arg128Ter Single submitter odonto-onycho-dermal dysplasia
- p.Arg164Ter Single submitter odonto-onycho-dermal dysplasia
- p.Arg232fs Single submitter odonto-onycho-dermal dysplasia
- p.Arg328fs Single submitter odonto-onycho-dermal dysplasia
- p.Arg329fs Single submitter
- p.Arg330fs Single submitter odonto-onycho-dermal dysplasia
- p.Asp217fs Single submitter odonto-onycho-dermal dysplasia
- p.Cys271Ter Single submitter odonto-onycho-dermal dysplasia
- p.Cys346fs Single submitter tooth agenesis, selective, 4
- p.Cys376Ter Single submitter odonto-onycho-dermal dysplasia
- p.Gln178Ter Single submitter odonto-onycho-dermal dysplasia
- p.Gln183Ter Single submitter tooth agenesis, selective, 4
- p.Gln87Ter Single submitter tooth agenesis, selective, 4
- p.Gln99fs Single submitter odonto-onycho-dermal dysplasia
- p.Glu129fs Single submitter odonto-onycho-dermal dysplasia
- p.Glu168fs Single submitter tooth agenesis, selective, 4
- p.Glu194fs Single submitter tooth agenesis, selective, 4
- p.Glu233Ter Single submitter odonto-onycho-dermal dysplasia
- p.Glu311fs Single submitter tooth agenesis, selective, 4
- p.Glu340Ter Single submitter odonto-onycho-dermal dysplasia
- p.Glu349fs Single submitter tooth agenesis, selective, 4
- p.Gly2fs Single submitter odonto-onycho-dermal dysplasia
- p.His239fs Single submitter odonto-onycho-dermal dysplasia
- p.His303fs Single submitter odonto-onycho-dermal dysplasia
- p.His381fs Single submitter odonto-onycho-dermal dysplasia
- p.Leu29fs Single submitter odonto-onycho-dermal dysplasia
- p.Met1Val Single submitter tooth agenesis, selective, 4
- p.Met36fs Single submitter odonto-onycho-dermal dysplasia
- p.Phe127fs Single submitter odonto-onycho-dermal dysplasia
- p.Phe283fs Single submitter odonto-onycho-dermal dysplasia
- p.Pro20fs Single submitter odonto-onycho-dermal dysplasia
- p.Pro302fs Single submitter odonto-onycho-dermal dysplasia
- p.Pro51fs Single submitter odonto-onycho-dermal dysplasia
- p.Ser225fs Single submitter odonto-onycho-dermal dysplasia
- p.Ser319Ter Single submitter tooth agenesis, selective, 4
- p.Ser332fs Single submitter odonto-onycho-dermal dysplasia
- p.Ser365fs Single submitter odonto-onycho-dermal dysplasia
- p.Ser389fs Single submitter tooth agenesis, selective, 4
- p.Ser3fs Single submitter odonto-onycho-dermal dysplasia
- p.Thr267fs Single submitter tooth agenesis, selective, 4
- p.Thr357Ile Single submitter tooth agenesis, selective, 4
- p.Trp105Ter Single submitter odonto-onycho-dermal dysplasia
- p.Trp277Ter Single submitter odonto-onycho-dermal dysplasia
- p.Tyr118Ter Single submitter odonto-onycho-dermal dysplasia
- p.Val192fs Single submitter tooth agenesis, selective, 4
- c.756+1G>A No assertion criteria odonto-onycho-dermal dysplasia
- p.Ile300fs No assertion criteria odonto-onycho-dermal dysplasia
- p.Trp9Ter No assertion criteria tooth agenesis, selective, 4
Pathogenic/Likely pathogenic 24
- p.Ala131Thr Multiple submitters Schöpf-Schulz-Passarge syndrome
- p.Ala317fs Multiple submitters odonto-onycho-dermal dysplasia
- p.Arg104Cys Multiple submitters odonto-onycho-dermal dysplasia
- p.Arg128Gln Multiple submitters tooth agenesis, selective, 4 ⚠
- p.Arg13Ter Multiple submitters tooth agenesis, selective, 4
- p.Asp335fs Multiple submitters tooth agenesis, selective, 4
- p.Cys107Ter Multiple submitters WNT10A-related disorder
- p.Cys271fs Multiple submitters odonto-onycho-dermal dysplasia
- p.Cys362Arg Multiple submitters odonto-onycho-dermal dysplasia
- p.Cys400Tyr Multiple submitters odonto-onycho-dermal dysplasia
- p.Gln272Ter Multiple submitters odonto-onycho-dermal dysplasia
- p.Gln278Ter Multiple submitters odonto-onycho-dermal dysplasia
- p.Gln97Ter Multiple submitters odonto-onycho-dermal dysplasia
- p.Glu282Ter Multiple submitters odonto-onycho-dermal dysplasia
- p.Glu390Ter Multiple submitters odonto-onycho-dermal dysplasia
- p.Glu95Lys Multiple submitters tooth agenesis, selective, 4
- p.Ile409fs Multiple submitters odonto-onycho-dermal dysplasia
- p.Met1Ile Multiple submitters tooth agenesis, selective, 4
- p.Met1Leu Multiple submitters tooth agenesis, selective, 4
- p.Pro312fs Multiple submitters odonto-onycho-dermal dysplasia
- p.Ser108Pro Multiple submitters odonto-onycho-dermal dysplasia
- p.Trp209Ter Multiple submitters odonto-onycho-dermal dysplasia
- p.Trp23Ter Multiple submitters tooth agenesis, selective, 4
- p.Val145Met Multiple submitters odonto-onycho-dermal dysplasia
Likely pathogenic 26
- c.113+1G>A Multiple submitters tooth agenesis, selective, 4
- c.113+1G>T Multiple submitters odonto-onycho-dermal dysplasia
- p.Ala297Thr Multiple submitters odonto-onycho-dermal dysplasia
- p.Cys416Tyr Multiple submitters Schöpf-Schulz-Passarge syndrome
- p.Gly126Ser Multiple submitters odonto-onycho-dermal dysplasia ⚠
- c.114-1G>A Single submitter Schöpf-Schulz-Passarge syndrome
- p.Ala92Thr Single submitter odonto-onycho-dermal dysplasia
- p.Arg360Pro Single submitter tooth agenesis, selective, 4
- p.Arg379Cys Single submitter odonto-onycho-dermal dysplasia
- p.Asp166fs Single submitter Schöpf-Schulz-Passarge syndrome
- p.Cys271Tyr Single submitter tooth agenesis, selective, 4
- p.Cys276Ser Single submitter Schöpf-Schulz-Passarge syndrome
- p.Cys392Ter Single submitter Schöpf-Schulz-Passarge syndrome
- p.Gln252Ter Single submitter Schöpf-Schulz-Passarge syndrome
- p.Glu222fs Single submitter Schöpf-Schulz-Passarge syndrome
- p.Glu52fs Single submitter Schöpf-Schulz-Passarge syndrome
- p.Gly221Val Single submitter odonto-onycho-dermal dysplasia
- p.Met1_His5del Single submitter odonto-onycho-dermal dysplasia
- p.Met1Arg Single submitter Schöpf-Schulz-Passarge syndrome
- p.Met242Arg Single submitter Inborn genetic diseases
- p.Pro343Leu Single submitter odonto-onycho-dermal dysplasia
- p.Trp211Ter Single submitter Schöpf-Schulz-Passarge syndrome
- p.Tyr118Cys Single submitter tooth agenesis, selective, 4 ⚠
- p.Gln206Ter No assertion criteria odonto-onycho-dermal dysplasia
- p.Gly356Ser No assertion criteria odonto-onycho-dermal dysplasia
- p.Leu174Pro No assertion criteria tooth agenesis, selective, 4
Conflicting classifications of pathogenicity 39
- c.377-11T>C Single submitter tooth agenesis, selective, 4
- c.756+13C>A Single submitter tooth agenesis, selective, 4
- c.756+14C>T Single submitter tooth agenesis, selective, 4
- p.Ala135Thr Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Ala21Gly Single submitter tooth agenesis, selective, 4 ⚠
- p.Ala240Val Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Arg104His Single submitter tooth agenesis, selective, 4 ⚠
- p.Arg113Cys Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Arg163Trp Single submitter WNT10A-related disorder ⚠
- p.Arg171Cys Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Arg171His Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Arg172Trp Single submitter tooth agenesis, selective, 4 ⚠
- p.Arg184His Single submitter Schöpf-Schulz-Passarge syndrome ⚠
- p.Arg360Leu Single submitter tooth agenesis, selective, 4 ⚠
- p.Arg70Trp Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Asn106Lys Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Asn304His Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Asn363His Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Asp166= Single submitter tooth agenesis, selective, 4
- p.Asp217Asn Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Asp217Gly Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Cys372Gly Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Cys400Ser Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Glu233Lys Single submitter tooth agenesis, selective, 4 ⚠
- p.Gly152= Single submitter odonto-onycho-dermal dysplasia
- p.Gly165Arg Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Gly213Ser Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Gly221Arg Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Gly266Ser Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Gly378= Single submitter tooth agenesis, selective, 4
- p.Ile116Thr Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Ile136Met Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Met218Val Single submitter tooth agenesis, selective, 4 ⚠
- p.Phe339= Single submitter tooth agenesis, selective, 4
- p.Phe345Ser Single submitter tooth agenesis, selective, 4 ⚠
- p.Pro281Ala Single submitter Inborn genetic diseases ⚠
- p.Pro50Leu Single submitter ectodermal dysplasia WNT10A related ⚠
- p.Ser270Arg Single submitter tooth agenesis, selective, 4 ⚠
- p.Trp277Cys Single submitter odonto-onycho-dermal dysplasia ⚠
Benign 2
- c.114-56T>C Multiple submitters
- p.Leu273Ile Multiple submitters odonto-onycho-dermal dysplasia
Benign/Likely benign 5
- c.*431C>T Multiple submitters tooth agenesis, selective, 4
- p.Ala197= Multiple submitters tooth agenesis, selective, 4
- p.Asp335Asn Multiple submitters Schöpf-Schulz-Passarge syndrome
- p.Gln178= Multiple submitters odonto-onycho-dermal dysplasia
- p.His78= Multiple submitters odonto-onycho-dermal dysplasia
Likely benign 230
- c.756+7G>A Multiple submitters odonto-onycho-dermal dysplasia
- p.Ala161= Multiple submitters odonto-onycho-dermal dysplasia
- p.Asn306Lys Multiple submitters odonto-onycho-dermal dysplasia ⚠
- p.Asp335= Multiple submitters odonto-onycho-dermal dysplasia
- p.Gly2Ser Multiple submitters odonto-onycho-dermal dysplasia
- p.Tyr134= Multiple submitters tooth agenesis, selective, 4
- c.113+10C>T Single submitter tooth agenesis, selective, 4
- c.113+17T>C Single submitter odonto-onycho-dermal dysplasia
- c.113+19C>T Single submitter odonto-onycho-dermal dysplasia
- c.113+7C>A Single submitter odonto-onycho-dermal dysplasia
- c.113+8C>A Single submitter odonto-onycho-dermal dysplasia
- c.114-10A>G Single submitter tooth agenesis, selective, 4
- c.114-10A>T Single submitter tooth agenesis, selective, 4
- c.114-16C>T Single submitter odonto-onycho-dermal dysplasia
- c.114-8G>A Single submitter odonto-onycho-dermal dysplasia
- c.376+13_376+14insCTTTCTTTCCAAGTTATGGATGTCCATTGTGTGGGGTCAGGTGACCTCCGTTTCCTCCA Single submitter odonto-onycho-dermal dysplasia
- c.376+17C>A Single submitter odonto-onycho-dermal dysplasia
- c.376+17C>G Single submitter odonto-onycho-dermal dysplasia
- c.376+18C>A Single submitter tooth agenesis, selective, 4
- c.376+19T>C Single submitter tooth agenesis, selective, 4
- c.376+8C>T Single submitter odonto-onycho-dermal dysplasia
- c.376+9C>T Single submitter tooth agenesis, selective, 4
- c.377-12_377-10del Single submitter odonto-onycho-dermal dysplasia
- c.377-18C>G Single submitter odonto-onycho-dermal dysplasia
- c.756+14C>A Single submitter odonto-onycho-dermal dysplasia
- c.756+15C>A Single submitter odonto-onycho-dermal dysplasia
- c.756+17del Single submitter odonto-onycho-dermal dysplasia
- c.756+17T>C Single submitter odonto-onycho-dermal dysplasia
- c.756+18G>A Single submitter odonto-onycho-dermal dysplasia
- c.756+20G>A Single submitter odonto-onycho-dermal dysplasia
- c.756+9C>A Single submitter tooth agenesis, selective, 4
- c.757-16G>A Single submitter tooth agenesis, selective, 4
- c.757-17G>T Single submitter odonto-onycho-dermal dysplasia
- c.757-20C>A Single submitter tooth agenesis, selective, 4
- c.757-6C>T Single submitter odonto-onycho-dermal dysplasia
- c.757-9C>A Single submitter tooth agenesis, selective, 4
- c.*128T>C Single submitter tooth agenesis, selective, 4
- c.*216G>C Single submitter tooth agenesis, selective, 4
- c.*275C>T Single submitter tooth agenesis, selective, 4
- p.Ala133= Single submitter tooth agenesis, selective, 4
- p.Ala135= Single submitter odonto-onycho-dermal dysplasia
- p.Ala144= Single submitter odonto-onycho-dermal dysplasia
- p.Ala148= Single submitter tooth agenesis, selective, 4
- p.Ala150= Single submitter odonto-onycho-dermal dysplasia
- p.Ala156= Single submitter tooth agenesis, selective, 4
- p.Ala169= Single submitter odonto-onycho-dermal dysplasia
- p.Ala21= Single submitter odonto-onycho-dermal dysplasia
- p.Ala240= Single submitter odonto-onycho-dermal dysplasia
- p.Ala288= Single submitter odonto-onycho-dermal dysplasia
- p.Ala297= Single submitter tooth agenesis, selective, 4
- p.Ala315= Single submitter tooth agenesis, selective, 4
- p.Ala317= Single submitter odonto-onycho-dermal dysplasia
- p.Ala334= Single submitter tooth agenesis, selective, 4
- p.Ala35= Single submitter tooth agenesis, selective, 4
- p.Ala367= Single submitter tooth agenesis, selective, 4
- p.Ala92= Single submitter odonto-onycho-dermal dysplasia
- p.Arg11= Single submitter odonto-onycho-dermal dysplasia
- p.Arg13= Single submitter odonto-onycho-dermal dysplasia
- p.Arg163= Single submitter odonto-onycho-dermal dysplasia
- p.Arg248= Single submitter odonto-onycho-dermal dysplasia
- p.Arg259= Single submitter odonto-onycho-dermal dysplasia
- p.Arg301= Single submitter odonto-onycho-dermal dysplasia
- p.Arg301Pro Single submitter tooth agenesis, selective, 4
- p.Arg305= Single submitter odonto-onycho-dermal dysplasia
- p.Arg348= Single submitter odonto-onycho-dermal dysplasia
- p.Arg351= Single submitter odonto-onycho-dermal dysplasia
- p.Arg360= Single submitter tooth agenesis, selective, 4
- p.Arg379= Single submitter tooth agenesis, selective, 4
- p.Arg385= Single submitter odonto-onycho-dermal dysplasia
- p.Arg388= Single submitter odonto-onycho-dermal dysplasia
- p.Arg391= Single submitter odonto-onycho-dermal dysplasia
- p.Arg395= Single submitter odonto-onycho-dermal dysplasia
- p.Arg7= Single submitter odonto-onycho-dermal dysplasia
- p.Arg70= Single submitter odonto-onycho-dermal dysplasia
- p.Asn106= Single submitter odonto-onycho-dermal dysplasia
- p.Asn114= Single submitter odonto-onycho-dermal dysplasia
- p.Asn147= Single submitter odonto-onycho-dermal dysplasia
- p.Asn246= Single submitter tooth agenesis, selective, 4
- p.Asn247= Single submitter odonto-onycho-dermal dysplasia
- p.Asn257= Single submitter odonto-onycho-dermal dysplasia
- p.Asn306= Single submitter odonto-onycho-dermal dysplasia
- p.Asn382= Single submitter odonto-onycho-dermal dysplasia
- p.Asn42Ser Single submitter odonto-onycho-dermal dysplasia
- p.Asn56= Single submitter tooth agenesis, selective, 4
- p.Asn58= Single submitter odonto-onycho-dermal dysplasia
- p.Asp102= Single submitter odonto-onycho-dermal dysplasia
- p.Asp180= Single submitter odonto-onycho-dermal dysplasia
- p.Asp227= Single submitter odonto-onycho-dermal dysplasia
- p.Asp230= Single submitter tooth agenesis, selective, 4
- p.Asp353= Single submitter tooth agenesis, selective, 4
- p.Asp370= Single submitter tooth agenesis, selective, 4
- p.Asp46= Single submitter odonto-onycho-dermal dysplasia
- p.Cys159= Single submitter odonto-onycho-dermal dysplasia
- p.Cys214= Single submitter odonto-onycho-dermal dysplasia
- p.Cys271= Single submitter odonto-onycho-dermal dysplasia
- p.Cys372= Single submitter tooth agenesis, selective, 4
- p.Cys376= Single submitter odonto-onycho-dermal dysplasia
- p.Cys377= Single submitter odonto-onycho-dermal dysplasia
- p.Cys399= Single submitter odonto-onycho-dermal dysplasia
- p.Cys404= Single submitter odonto-onycho-dermal dysplasia
- p.Cys407= Single submitter odonto-onycho-dermal dysplasia
- p.Cys96= Single submitter odonto-onycho-dermal dysplasia
- p.Gln103= Single submitter odonto-onycho-dermal dysplasia
- p.Gln15= Single submitter odonto-onycho-dermal dysplasia
- p.Gln272= Single submitter odonto-onycho-dermal dysplasia
- p.Gln309= Single submitter odonto-onycho-dermal dysplasia
- p.Gln386= Single submitter tooth agenesis, selective, 4
- p.Gln99= Single submitter odonto-onycho-dermal dysplasia
- p.Glu129= Single submitter odonto-onycho-dermal dysplasia
- p.Glu222= Single submitter odonto-onycho-dermal dysplasia
- p.Glu347= Single submitter odonto-onycho-dermal dysplasia
- p.Glu349= Single submitter tooth agenesis, selective, 4
- p.Glu390= Single submitter odonto-onycho-dermal dysplasia
- p.Glu406= Single submitter tooth agenesis, selective, 4
- p.Glu52= Single submitter odonto-onycho-dermal dysplasia
- p.Glu73= Single submitter tooth agenesis, selective, 4
- p.Gly140= Single submitter odonto-onycho-dermal dysplasia
- p.Gly158= Single submitter odonto-onycho-dermal dysplasia
- p.Gly165= Single submitter odonto-onycho-dermal dysplasia
- p.Gly185= Single submitter odonto-onycho-dermal dysplasia
- p.Gly187= Single submitter odonto-onycho-dermal dysplasia
- p.Gly191= Single submitter odonto-onycho-dermal dysplasia
- p.Gly204= Single submitter odonto-onycho-dermal dysplasia
- p.Gly212= Single submitter odonto-onycho-dermal dysplasia
- p.Gly221= Single submitter odonto-onycho-dermal dysplasia
- p.Gly313= Single submitter tooth agenesis, selective, 4
- p.Gly323= Single submitter odonto-onycho-dermal dysplasia
- p.Gly380= Single submitter odonto-onycho-dermal dysplasia
- p.His143= Single submitter odonto-onycho-dermal dysplasia
- p.His175= Single submitter odonto-onycho-dermal dysplasia
- p.His190= Single submitter odonto-onycho-dermal dysplasia
- p.His195= Single submitter odonto-onycho-dermal dysplasia
- p.His235= Single submitter odonto-onycho-dermal dysplasia
- p.His239= Single submitter odonto-onycho-dermal dysplasia
- p.His265= Single submitter odonto-onycho-dermal dysplasia
- p.His381= Single submitter odonto-onycho-dermal dysplasia
- p.His393= Single submitter odonto-onycho-dermal dysplasia
- p.His94= Single submitter odonto-onycho-dermal dysplasia
- p.Ile116= Single submitter odonto-onycho-dermal dysplasia
- p.Ile136= Single submitter odonto-onycho-dermal dysplasia
- p.Ile300= Single submitter odonto-onycho-dermal dysplasia
- p.Ile383= Single submitter odonto-onycho-dermal dysplasia
- p.Ile44= Single submitter odonto-onycho-dermal dysplasia
- p.Ile89= Single submitter odonto-onycho-dermal dysplasia
- p.Ile91= Single submitter odonto-onycho-dermal dysplasia
- p.Ile93= Single submitter odonto-onycho-dermal dysplasia
- p.Leu12= Single submitter tooth agenesis, selective, 4
- p.Leu154= Single submitter odonto-onycho-dermal dysplasia
- p.Leu174= Single submitter
- p.Leu177= Single submitter tooth agenesis, selective, 4
- p.Leu179= Single submitter odonto-onycho-dermal dysplasia
- p.Leu182= Single submitter odonto-onycho-dermal dysplasia
- p.Leu188= Single submitter odonto-onycho-dermal dysplasia
- p.Leu198= Single submitter odonto-onycho-dermal dysplasia
- p.Leu205= Single submitter tooth agenesis, selective, 4
- p.Leu244= Single submitter odonto-onycho-dermal dysplasia
- p.Leu25= Single submitter odonto-onycho-dermal dysplasia
- p.Leu26= Single submitter odonto-onycho-dermal dysplasia
- p.Leu273= Single submitter tooth agenesis, selective, 4
- p.Leu29= Single submitter odonto-onycho-dermal dysplasia
- p.Leu30= Single submitter odonto-onycho-dermal dysplasia
- p.Leu310= Single submitter tooth agenesis, selective, 4
- p.Leu32= Single submitter odonto-onycho-dermal dysplasia
- p.Leu336= Single submitter odonto-onycho-dermal dysplasia
- p.Leu352= Single submitter odonto-onycho-dermal dysplasia
- p.Leu361= Single submitter odonto-onycho-dermal dysplasia
- p.Leu45= Single submitter odonto-onycho-dermal dysplasia
- p.Leu49= Single submitter odonto-onycho-dermal dysplasia
- p.Leu62= Single submitter odonto-onycho-dermal dysplasia
- p.Leu64= Single submitter odonto-onycho-dermal dysplasia
- p.Leu67= Single submitter odonto-onycho-dermal dysplasia
- p.Lys155= Single submitter odonto-onycho-dermal dysplasia
- p.Lys186= Single submitter odonto-onycho-dermal dysplasia
- p.Lys274= Single submitter odonto-onycho-dermal dysplasia
- p.Lys341= Single submitter odonto-onycho-dermal dysplasia
- p.Lys364= Single submitter tooth agenesis, selective, 4
- p.Lys417= Single submitter odonto-onycho-dermal dysplasia
- p.Phe220= Single submitter odonto-onycho-dermal dysplasia
- p.Phe27= Single submitter odonto-onycho-dermal dysplasia
- p.Phe294= Single submitter odonto-onycho-dermal dysplasia
- p.Phe396= Single submitter tooth agenesis, selective, 4
- p.Pro117= Single submitter tooth agenesis, selective, 4
- p.Pro121= Single submitter odonto-onycho-dermal dysplasia
- p.Pro14= Single submitter tooth agenesis, selective, 4
- p.Pro18= Single submitter odonto-onycho-dermal dysplasia
- p.Pro193= Single submitter odonto-onycho-dermal dysplasia
- p.Pro203= Single submitter odonto-onycho-dermal dysplasia
- p.Pro216= Single submitter tooth agenesis, selective, 4
- p.Pro281= Single submitter odonto-onycho-dermal dysplasia
- p.Pro302= Single submitter odonto-onycho-dermal dysplasia
- p.Pro312= Single submitter tooth agenesis, selective, 4
- p.Pro314= Single submitter odonto-onycho-dermal dysplasia
- p.Pro322= Single submitter odonto-onycho-dermal dysplasia
- p.Pro327= Single submitter odonto-onycho-dermal dysplasia
- p.Pro333= Single submitter odonto-onycho-dermal dysplasia
- p.Pro350= Single submitter odonto-onycho-dermal dysplasia
- p.Pro37= Single submitter odonto-onycho-dermal dysplasia
- p.Pro50= Single submitter tooth agenesis, selective, 4
- p.Pro53= Single submitter odonto-onycho-dermal dysplasia
- p.Ser109= Single submitter tooth agenesis, selective, 4
- p.Ser124= Single submitter odonto-onycho-dermal dysplasia
- p.Ser130= Single submitter odonto-onycho-dermal dysplasia
- p.Ser146= Single submitter odonto-onycho-dermal dysplasia
- p.Ser189= Single submitter odonto-onycho-dermal dysplasia
- p.Ser202= Single submitter odonto-onycho-dermal dysplasia
- p.Ser215= Single submitter odonto-onycho-dermal dysplasia
- p.Ser292Gly Single submitter odonto-onycho-dermal dysplasia
- p.Ser319= Single submitter odonto-onycho-dermal dysplasia
- p.Ser366= Single submitter odonto-onycho-dermal dysplasia
- p.Ser369= Single submitter tooth agenesis, selective, 4
- p.Ser389= Single submitter tooth agenesis, selective, 4
- p.Thr267= Single submitter odonto-onycho-dermal dysplasia
- p.Thr275= Single submitter odonto-onycho-dermal dysplasia
- p.Thr280= Single submitter odonto-onycho-dermal dysplasia
- p.Thr285= Single submitter odonto-onycho-dermal dysplasia
- p.Thr285Ala Single submitter Inborn genetic diseases
- p.Thr387= Single submitter tooth agenesis, selective, 4
- p.Thr59= Single submitter odonto-onycho-dermal dysplasia
- p.Val141= Single submitter tooth agenesis, selective, 4
- p.Val145= Single submitter odonto-onycho-dermal dysplasia
- p.Val192= Single submitter tooth agenesis, selective, 4
- p.Val24= Single submitter tooth agenesis, selective, 4
- p.Val249Ile Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Val254= Single submitter odonto-onycho-dermal dysplasia
- p.Val286= Single submitter odonto-onycho-dermal dysplasia
- p.Val337= Single submitter odonto-onycho-dermal dysplasia
- p.Val402= Single submitter odonto-onycho-dermal dysplasia
- p.Val54= Single submitter odonto-onycho-dermal dysplasia
- p.Val81= Single submitter odonto-onycho-dermal dysplasia
- p.His98= No assertion criteria WNT10A-related disorder
Uncertain significance 179
- p.Ala148Val Multiple submitters odonto-onycho-dermal dysplasia ⚠
- p.Ala288Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala92Val Multiple submitters odonto-onycho-dermal dysplasia ⚠
- p.Arg13Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg176Cys Multiple submitters odonto-onycho-dermal dysplasia
- p.Arg223Cys Multiple submitters odonto-onycho-dermal dysplasia ⚠
- p.Arg223His Multiple submitters tooth agenesis, selective, 4 ⚠
- p.Arg223Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg260Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg305His Multiple submitters odonto-onycho-dermal dysplasia ⚠
- p.Arg388Cys Multiple submitters Inborn genetic diseases ⚠
- p.Cys394Tyr Multiple submitters odonto-onycho-dermal dysplasia ⚠
- p.Cys404Trp Multiple submitters tooth agenesis, selective, 4 ⚠
- p.Cys96Arg Multiple submitters ⚠
- p.Gln71Leu Multiple submitters tooth agenesis, selective, 4 ⚠
- p.Glu347Ala Multiple submitters odonto-onycho-dermal dysplasia ⚠
- p.Gly316Arg Multiple submitters Inborn genetic diseases ⚠
- p.His143Tyr Multiple submitters odonto-onycho-dermal dysplasia
- p.Ile122Phe Multiple submitters odonto-onycho-dermal dysplasia
- p.Leu67Pro Multiple submitters Inborn genetic diseases ⚠
- p.Lys263Asn Multiple submitters tooth agenesis, selective, 4 ⚠
- p.Pro20Gln Multiple submitters odonto-onycho-dermal dysplasia ⚠
- p.Pro281Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro350Leu Multiple submitters tooth agenesis, selective, 4 ⚠
- p.Pro51Leu Multiple submitters odonto-onycho-dermal dysplasia ⚠
- p.Ser146Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val81Ala Multiple submitters Inborn genetic diseases ⚠
- c.113+3G>A Single submitter odonto-onycho-dermal dysplasia
- c.*108G>A Single submitter tooth agenesis, selective, 4
- c.*115C>T Single submitter tooth agenesis, selective, 4
- c.*139C>G Single submitter tooth agenesis, selective, 4
- c.*15C>T Single submitter tooth agenesis, selective, 4
- c.*238C>T Single submitter tooth agenesis, selective, 4
- c.*339C>T Single submitter tooth agenesis, selective, 4
- c.*441C>T Single submitter tooth agenesis, selective, 4
- p.Ala137Pro Single submitter ⚠
- p.Ala137Thr Single submitter ⚠
- p.Ala144Pro Single submitter ⚠
- p.Ala161Val Single submitter Inborn genetic diseases ⚠
- p.Ala181Val Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Ala253Val Single submitter Inborn genetic diseases ⚠
- p.Ala317Pro Single submitter Inborn genetic diseases ⚠
- p.Ala331Asp Single submitter Inborn genetic diseases ⚠
- p.Arg104Pro Single submitter ⚠
- p.Arg113Pro Single submitter odonto-onycho-dermal dysplasia
- p.Arg11Trp Single submitter Inborn genetic diseases ⚠
- p.Arg125Ser Single submitter ⚠
- p.Arg163Gln Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Arg232Gln Single submitter tooth agenesis, selective, 4 ⚠
- p.Arg232Trp Single submitter tooth agenesis, selective, 4 ⚠
- p.Arg243Ser Single submitter Inborn genetic diseases ⚠
- p.Arg259Trp Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Arg284Leu Single submitter ⚠
- p.Arg293Cys Single submitter Abnormality of the dentition ⚠
- p.Arg305Leu Single submitter tooth agenesis, selective, 4
- p.Arg329Ter Single submitter tooth agenesis, selective, 4
- p.Arg330dup Single submitter odonto-onycho-dermal dysplasia
- p.Arg330Gln Single submitter ⚠
- p.Arg330Pro Single submitter Inborn genetic diseases ⚠
- p.Arg348Cys Single submitter Abnormality of the dentition ⚠
- p.Arg351Leu Single submitter Inborn genetic diseases ⚠
- p.Arg385_Gln386insArgGlyArgGlyHisAsnIleLeuArg Single submitter Inborn genetic diseases
- p.Arg385His Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Arg38Trp Single submitter WNT10A-related disorder ⚠
- p.Arg395Cys Single submitter tooth agenesis, selective, 4 ⚠
- p.Arg408His Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Arg48Cys Single submitter tooth agenesis, selective, 4 ⚠
- p.Arg69Gln Single submitter ⚠
- p.Arg69Trp Single submitter tooth agenesis, selective, 4
- p.Arg70Gln Single submitter Inborn genetic diseases ⚠
- p.Arg77His Single submitter Inborn genetic diseases ⚠
- p.Arg7Ser Single submitter Inborn genetic diseases ⚠
- p.Asn306dup Single submitter tooth agenesis, selective, 4
- p.Asn306His Single submitter Inborn genetic diseases ⚠
- p.Asn56Asp Single submitter tooth agenesis, selective, 4 ⚠
- p.Asp335Ala Single submitter Inborn genetic diseases ⚠
- p.Asp370Ala Single submitter Inborn genetic diseases ⚠
- p.Cys107Ser Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Cys107Tyr Single submitter Inborn genetic diseases ⚠
- p.Cys214Arg Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Cys264Phe Single submitter tooth agenesis, selective, 4 ⚠
- p.Cys276Phe Single submitter ⚠
- p.Cys346Arg Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Cys362Phe Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Cys376Ser Single submitter tooth agenesis, selective, 4 ⚠
- p.Cys404Phe Single submitter Inborn genetic diseases ⚠
- p.Gln252= Single submitter odonto-onycho-dermal dysplasia
- p.Glu167Gln Single submitter ⚠
- p.Glu222Lys Single submitter Schöpf-Schulz-Passarge syndrome
- p.Glu311Lys Single submitter Inborn genetic diseases
- p.Glu390Lys Single submitter ⚠
- p.Glu73Lys Single submitter Inborn genetic diseases ⚠
- p.Gly185Asp Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Gly191Glu Single submitter ⚠
- p.Gly307Arg Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Gly308Val Single submitter Inborn genetic diseases ⚠
- p.Gly313Arg Single submitter ⚠
- p.Gly316Ala Single submitter Inborn genetic diseases ⚠
- p.Gly323Ser Single submitter Inborn genetic diseases ⚠
- p.Gly378_Arg379insSerMetCysCysGly Single submitter odonto-onycho-dermal dysplasia
- p.Gly380Ser Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Gly88Cys Single submitter tooth agenesis, selective, 4 ⚠
- p.Gly88Ser Single submitter tooth agenesis, selective, 4 ⚠
- p.His175Tyr Single submitter Inborn genetic diseases ⚠
- p.His195Gln Single submitter Inborn genetic diseases ⚠
- p.His239Tyr Single submitter Inborn genetic diseases ⚠
- p.His98Gln Single submitter Inborn genetic diseases ⚠
- p.His98Pro Single submitter Schöpf-Schulz-Passarge syndrome ⚠
- p.Ile238Leu Single submitter Inborn genetic diseases ⚠
- p.Ile300Phe Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Ile44Thr Single submitter ⚠
- p.Leu310Arg Single submitter Inborn genetic diseases ⚠
- p.Leu384Gln Single submitter ⚠
- p.Leu64Phe Single submitter Inborn genetic diseases
- p.Lys173Asn Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Lys186Thr Single submitter ⚠
- p.Met218Arg Single submitter tooth agenesis, selective, 4 ⚠
- p.Met375Arg Single submitter tooth agenesis, selective, 4 ⚠
- p.Met375Thr Single submitter tooth agenesis, selective, 4 ⚠
- p.Met72Ile Single submitter Inborn genetic diseases ⚠
- p.Phe224Leu Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Phe224Ser Single submitter ⚠
- p.Phe228Leu Single submitter ⚠
- p.Phe27Ile Single submitter Inborn genetic diseases ⚠
- p.Phe294Val Single submitter Inborn genetic diseases ⚠
- p.Phe339Leu Single submitter Inborn genetic diseases ⚠
- p.Phe345Leu Single submitter tooth agenesis, selective, 4 ⚠
- p.Pro117Ser Single submitter tooth agenesis, selective, 4 ⚠
- p.Pro18Leu Single submitter Inborn genetic diseases ⚠
- p.Pro318His Single submitter Inborn genetic diseases ⚠
- p.Pro320Arg Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Pro320Ser Single submitter Inborn genetic diseases ⚠
- p.Pro327Gln Single submitter ⚠
- p.Pro51Arg Single submitter ⚠
- p.Ser108Leu Single submitter odonto-onycho-dermal dysplasia ⚠
- p.Ser124Gly Single submitter Inborn genetic diseases ⚠
- p.Ser208Phe Single submitter tooth agenesis, selective, 4 ⚠
- p.Ser215Arg Single submitter ⚠
- p.Ser231Phe Single submitter Inborn genetic diseases ⚠
- p.Ser268Pro Single submitter Inborn genetic diseases ⚠
- p.Ser354Leu Single submitter tooth agenesis, selective, 4 ⚠
- p.Ser366Arg Single submitter Inborn genetic diseases ⚠
- p.Ser3Cys Single submitter tooth agenesis, selective, 4 ⚠
- p.Thr200Arg Single submitter Inborn genetic diseases ⚠
- p.Thr275Ala Single submitter ⚠
- p.Thr280Met Single submitter tooth agenesis, selective, 4 ⚠
- p.Thr280Ser Single submitter tooth agenesis, selective, 4 ⚠
- p.Trp105Cys Single submitter tooth agenesis, selective, 4 ⚠
- p.Val142del Single submitter
- p.Val145Ala Single submitter tooth agenesis, selective, 4 ⚠
- p.Val402Met Single submitter tooth agenesis, selective, 4 ⚠
- p.Val54Met Single submitter Inborn genetic diseases ⚠
- p.Ala4Thr No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Ala4Val No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Arg104Ser No assertion criteria tooth agenesis, selective, 4 ⚠
- p.Arg260Trp No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Arg328_Pro333del No assertion criteria Schöpf-Schulz-Passarge syndrome
- p.Arg328Cys No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Arg348Ser No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Cys376Phe No assertion criteria tooth agenesis, selective, 4 ⚠
- p.Gln278= No assertion criteria Schöpf-Schulz-Passarge syndrome
- p.Gln386His No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Gly308Ser No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Gly356Ala No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Gly380_His381insAlaAla No assertion criteria odonto-onycho-dermal dysplasia
- p.His98Tyr No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Leu10Arg No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Leu154Met No assertion criteria WNT10A-related disorder ⚠
- p.Leu299Arg No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Leu55Phe No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Pro117Arg No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Pro314Gln No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Pro325Leu No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Pro37Ser No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Pro41Leu No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Pro65Leu No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠
- p.Ser130Arg No assertion criteria WNT10A-related disorder ⚠
- p.Ser332= No assertion criteria Schöpf-Schulz-Passarge syndrome
- p.Val279Gly No assertion criteria Schöpf-Schulz-Passarge syndrome ⚠