TP63 — 828 ClinVar variants

All ClinVar germline TP63 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 269 flagged for review →

61 Pathogenic · 14 Pathogenic/Likely pathogenic · 59 Likely pathogenic · 48 Conflicting · 70 Benign · 30 Benign/Likely benign · 222 Likely benign · 324 Uncertain significance

Full TP63 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 vs ClinVar 1

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

TP63 p.Ala524Val Likely pathogenic Single submitter
TP63-related disorder

Predictors agree, ClinVar conflicts 18

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

TP63 p.Ala227Thr Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ala489Thr Conflicting Single submitter
orofacial cleft 8
TP63 p.Ala513Pro Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ala554Val Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Arg408His Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Cys244Tyr Conflicting Single submitter
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
TP63 p.Cys558Trp Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gln125Pro Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Glu268Lys Conflicting Single submitter
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
TP63 p.His28Gln Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Leu159Phe Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Phe552Cys Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Pro456Leu Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Pro528Leu Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser189Leu Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Thr451Ser Conflicting Single submitter
ADULT syndrome
TP63 p.Thr494Ala Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Val626Gly Conflicting Single submitter
Inborn genetic diseases

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

TP63 p.Arg37Ter Conflicting Single submitter
TP63-related disorder

Predictors lean, ClinVar uncertain 171

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 171

TP63 p.Ala524Thr Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Ala85Val Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Arg21His Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Arg376Cys Uncertain significance Multiple submitters
Inborn genetic diseases
TP63 p.Arg37Gln Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Arg594Gln Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Arg7Trp Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Arg97His Uncertain significance Multiple submitters
ADULT syndrome
TP63 p.Asn305Lys Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Asn370Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TP63 p.Asn381Ser Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Asn467Ser Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Gln123His Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Glu680Asp Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Gly371Ser Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Ile96Val Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Lys232Thr Uncertain significance Multiple submitters
split hand-foot malformation 4
TP63 p.Met506Ile Uncertain significance Multiple submitters
limb-mammary syndrome
TP63 p.Met510Ile Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Pro17Arg Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Pro289Ser Uncertain significance Multiple submitters
Inborn genetic diseases
TP63 p.Pro465Leu Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Pro484Thr Uncertain significance Multiple submitters
Inborn genetic diseases
TP63 p.Pro528Arg Uncertain significance Multiple submitters
TP63-related disorder
TP63 p.Pro528Gln Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Pro532Ala Uncertain significance Multiple submitters
ADULT syndrome
TP63 p.Ser389Phe Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Thr144Met Uncertain significance Multiple submitters
Inborn genetic diseases
TP63 p.Thr196Ser Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Thr374Met Uncertain significance Multiple submitters
ADULT syndrome
TP63 p.Thr493Ala Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Thr494Ile Uncertain significance Multiple submitters
ADULT syndrome
TP63 p.Thr538Ala Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Thr633Ser Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Tyr402His Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Val23Ile Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Ala139Val Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ala158Val Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ala513Thr Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ala9Gly Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Arg226His Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Arg283Gly Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Arg343Gly Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Arg350Lys Uncertain significance Single submitter
TP63 p.Arg352Gly Uncertain significance Single submitter
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
TP63 p.Arg487His Uncertain significance Single submitter
skeletal dysplasia
TP63 p.Arg605Trp Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Arg618Gln Uncertain significance Single submitter
Inborn genetic diseases
TP63 p.Arg634Gln Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asn246Asp Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asn309Ser Uncertain significance Single submitter
TP63 p.Asn317Lys Uncertain significance Single submitter
TP63 p.Asn370Ser Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asn47Asp Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asn517Ser Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asn662Ser Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asn670Ser Uncertain significance Single submitter
ADULT syndrome
TP63 p.Asp105Asn Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asp137Glu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asp16Gly Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asp583Tyr Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asp583Val Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asp83Val Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Cys203Tyr Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Cys244Arg Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Cys345Phe Uncertain significance Single submitter
TP63-related disorder
TP63 p.Cys95Tyr Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gln122His Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gln123Glu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gln12Pro Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gln212Arg Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gln425Glu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gln454His Uncertain significance Single submitter
ADULT syndrome
TP63 p.Gln454Lys Uncertain significance Single submitter
Inborn genetic diseases
TP63 p.Gln575Arg Uncertain significance Single submitter
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
TP63 p.Gln64Glu Uncertain significance Single submitter
TP63 p.Glu24Asp Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Glu255Lys Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Glu422Lys Uncertain significance Single submitter
TP63 p.Glu48Lys Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Glu53Asp Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gly127Ser Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gly314Arg Uncertain significance Single submitter
TP63-related disorder
TP63 p.Gly498Ser Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gly629Ala Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gly635Ser Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.His383Arg Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.His430Asn Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.His443Tyr Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.His445Arg Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.His509Tyr Uncertain significance Single submitter
ADULT syndrome
TP63 p.His615Tyr Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ile225Phe Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ile225Thr Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ile344Asn Uncertain significance Single submitter
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
TP63 p.Ile390Val Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ile432Thr Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ile432Val Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ile453Val Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ile495Val Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ile573Val Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ile601Thr Uncertain significance Single submitter
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
TP63 p.Leu159Val Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Leu525His Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Leu525Phe Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Leu616Phe Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Lys207Glu Uncertain significance Single submitter
TP63 p.Lys233Thr Uncertain significance Single submitter
TP63 p.Lys242Arg Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Lys369Arg Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Lys375Glu Uncertain significance Single submitter
TP63 p.Met307Ile Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Met472Ile Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Met499Ile Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Met499Thr Uncertain significance Single submitter
Inborn genetic diseases
TP63 p.Met505Val Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Met510Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Met510Val Uncertain significance Single submitter
ADULT syndrome
TP63 p.Met512Val Uncertain significance Single submitter
ADULT syndrome
TP63 p.Met516Thr Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Phe177Ser Uncertain significance Single submitter
TP63-related disorder
TP63 p.Phe177Val Uncertain significance Single submitter
Inborn genetic diseases
TP63 p.Phe181Leu Uncertain significance Single submitter
ADULT syndrome
TP63 p.Pro219Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Pro292Ala Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Pro348Ala Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Pro348Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Pro377Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Pro377Ser Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Pro456Ser Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Pro620Ala Uncertain significance Single submitter
Inborn genetic diseases
TP63 p.Ser101Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser142Asn Uncertain significance Single submitter
TP63 p.Ser180Ala Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser30Cys Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser365Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser457Pro Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser463Phe Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser51Gly Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser520Thr Uncertain significance Single submitter
TP63 p.Ser612Ala Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser612Tyr Uncertain significance Single submitter
ADULT syndrome
TP63 p.Ser630Pro Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser631Asn Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Thr136Ala Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Thr191Ser Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Thr193Arg Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Thr193Lys Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Thr300Lys Uncertain significance Single submitter
orofacial cleft 8
TP63 p.Thr410Ile Uncertain significance Single submitter
TP63-Related Spectrum Disorders

Predictors split 78

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

TP63 p.Arg376His Benign/Likely benign Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Arg669Cys Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Arg97Cys Uncertain significance Multiple submitters
split hand-foot malformation 4
TP63 p.Asp121Gly Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Gln439Lys Uncertain significance Multiple submitters
Inborn genetic diseases
TP63 p.Glu678Gln Likely pathogenic Multiple submitters
split hand-foot malformation 4
TP63 p.Ile280Asn Benign/Likely benign Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Pro163Ser Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Ser41Phe Uncertain significance Multiple submitters
TP63-related disorder
TP63 p.Ser621Gly Uncertain significance Multiple submitters
limb-mammary syndrome
TP63 p.Thr238Met Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Thr566Met Uncertain significance Multiple submitters
ADULT syndrome
TP63 p.Val237Ile Uncertain significance Multiple submitters
TP63-Related Spectrum Disorders
TP63 p.Ala145Glu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ala641Val Likely pathogenic Single submitter
TP63 p.Arg21Cys Uncertain significance Single submitter
orofacial cleft 8
TP63 p.Arg338His Uncertain significance Single submitter
TP63 p.Arg605Gln Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Arg637Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Arg643Gln Likely pathogenic Single submitter
TP63-related disorder
TP63 p.Arg647His Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asn118Tyr Uncertain significance Single submitter
TP63 p.Asn141Lys Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asn270Ser Uncertain significance Single submitter
ADULT syndrome
TP63 p.Asn370Lys Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asn483Lys Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asn488Lys Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asp137His Uncertain significance Single submitter
orofacial cleft 8
TP63 p.Asp603His Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Asp664Gly Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gln42Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gln440His Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gln485Arg Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Gln673Arg Uncertain significance Single submitter
Inborn genetic diseases
TP63 p.Gln70His Conflicting Single submitter
TP63-Related Spectrum Disorders
TP63 p.Glu197Gln Likely pathogenic Single submitter
auditory neuropathy
TP63 p.Glu433Gln Uncertain significance Single submitter
Inborn genetic diseases
TP63 p.Glu657Gly Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Glu678Lys Uncertain significance Single submitter
TP63 p.Gly679Glu Uncertain significance Single submitter
ADULT syndrome
TP63 p.His443Pro Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.His536Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ile390Asn Uncertain significance Single submitter
limb-mammary syndrome
TP63 p.Ile482Thr Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Leu481Phe Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Leu607Pro Uncertain significance Single submitter
TP63 p.Leu616Arg Uncertain significance Single submitter
ADULT syndrome
TP63 p.Met228Val Conflicting Single submitter
Inborn genetic diseases
TP63 p.Met387Lys Uncertain significance Single submitter
ADULT syndrome
TP63 p.Met40Arg Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Met665Arg Uncertain significance Single submitter
orofacial cleft 8
TP63 p.Met93Ile Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Met93Thr Uncertain significance Single submitter
TP63 p.Phe156Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Phe565Leu Pathogenic Single submitter
TP63-Related Spectrum Disorders
TP63 p.Phe644Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Pro174Gln Uncertain significance Single submitter
TP63 p.Pro174Leu Uncertain significance Single submitter
TP63 p.Pro428Ser Uncertain significance Single submitter
TP63 p.Pro65Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser128Phe Uncertain significance Single submitter
TP63 p.Ser132Gly Uncertain significance Single submitter
TP63 p.Ser147Trp Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser458Pro Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser479Asn Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser51Ile Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser520Arg Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Ser622Arg Uncertain significance Single submitter
Inborn genetic diseases
TP63 p.Ser627Asn Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Thr196Asn Uncertain significance Single submitter
Inborn genetic diseases
TP63 p.Thr571Pro Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Trp59Ser Uncertain significance Single submitter
TP63 p.Val215Leu Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Val230Leu Conflicting Single submitter
orofacial cleft 8
TP63 p.Val267Ile Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Val295Ile Uncertain significance Single submitter
TP63-Related Spectrum Disorders
TP63 p.Arg97Pro Pathogenic No assertion criteria
premature ovarian failure 21
TP63 p.Leu553Phe Pathogenic No assertion criteria
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome

All TP63 variants

Pathogenic 61

p.Arg243Trp Multiple submitters TP63-related disorder
p.Arg318Cys Multiple submitters TP63-related disorder
p.Arg319His Multiple submitters TP63-related disorder
p.Arg343Trp Multiple submitters TP63-related disorder
p.Gln9fs Multiple submitters TP63-related disorder
p.His247Arg Multiple submitters TP63-Related Spectrum Disorders
p.Ile576Thr Multiple submitters TP63-related disorder
c.1350-2A>G Single submitter TP63-Related Spectrum Disorders
c.580-2A>G Single submitter
c.883-1G>A Single submitter
p.Ala346Gly Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Ala667fs Single submitter TP63-Related Spectrum Disorders
p.Arg266Ter Single submitter TP63-Related Spectrum Disorders
p.Arg337Gly Single submitter ADULT syndrome
p.Arg350Ser Single submitter TP63-Related Spectrum Disorders
p.Arg618fs Single submitter TP63-Related Spectrum Disorders
p.Asp351Gly Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Asp355Asn Single submitter TP63-Related Spectrum Disorders
p.Cys312Tyr Single submitter
p.Cys347Arg Single submitter
p.Cys347Phe Single submitter
p.Gln110Ter Single submitter TP63-Related Spectrum Disorders
p.Gln183Ter Single submitter
p.Gln380Ter Single submitter Inborn genetic diseases
p.Gln672Ter Single submitter TP63-Related Spectrum Disorders
p.Gly173Val Single submitter
p.Gly600Asp Single submitter TP63-Related Spectrum Disorders
p.Ile597Thr Single submitter Rapp-Hodgkin syndrome
p.Leu529fs Single submitter TP63-Related Spectrum Disorders
p.Lys188Glu Single submitter split hand-foot malformation 4
p.Lys232Glu Single submitter TP63-Related Spectrum Disorders
p.Lys233_Ala234delinsThr Single submitter TP63-Related Spectrum Disorders
p.Met1Arg Single submitter ectodermal dysplasia syndrome
p.Phe552Val Single submitter
p.Phe565Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Phe565Val Single submitter TP63-Related Spectrum Disorders
p.Pro219fs Single submitter TP63-Related Spectrum Disorders
p.Pro613fs Single submitter
p.Ser189Ter Single submitter TP63-Related Spectrum Disorders
p.Ser311Asn Single submitter TP63-Related Spectrum Disorders
p.Ser621fs Single submitter TP63-Related Spectrum Disorders
p.Tyr579fs Single submitter TP63-Related Spectrum Disorders
c.1350-75_1492del No assertion criteria ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Arg594Ter No assertion criteria premature ovarian failure 21
p.Arg634fs No assertion criteria Rapp-Hodgkin syndrome
p.Arg647Cys No assertion criteria premature ovarian failure 21
p.Arg97Pro No assertion criteria premature ovarian failure 21 ⚠
p.Asn659fs No assertion criteria Rapp-Hodgkin syndrome
p.Asn6His No assertion criteria ADULT syndrome
p.Cys345Arg No assertion criteria ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Gln274fs No assertion criteria orofacial cleft 8
p.Gln568fs No assertion criteria premature ovarian failure 21
p.Glu609fs No assertion criteria Rapp-Hodgkin syndrome
p.His615fs No assertion criteria ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
p.Ile549Thr No assertion criteria ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
p.Leu553Phe No assertion criteria ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ⚠
p.Lys233Glu No assertion criteria split hand-foot malformation 4
p.Phe565fs No assertion criteria limb-mammary syndrome
p.Ser580Pro No assertion criteria Rapp-Hodgkin syndrome
p.Trp598Ter No assertion criteria premature ovarian failure 21
p.Tyr564Ter No assertion criteria ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Pathogenic/Likely pathogenic 14

p.Arg243Gln Multiple submitters TP63-related disorder
p.Arg266Gln Multiple submitters TP63-related disorder
p.Arg318His Multiple submitters TP63-Related Spectrum Disorders
p.Arg319Cys Multiple submitters TP63-related disorder
p.Arg337Gln Multiple submitters TP63-related disorder
p.Arg337Ter Multiple submitters TP63-related disorder
p.Arg343Gln Multiple submitters TP63-related disorder
p.Arg393Ter Multiple submitters
p.Gly173Arg Multiple submitters TP63-Related Spectrum Disorders
p.Gly173Asp Multiple submitters TP63-Related Spectrum Disorders
p.Gly336Asp Multiple submitters TP63-Related Spectrum Disorders
p.Gly557Val Multiple submitters TP63-Related Spectrum Disorders
p.His247Tyr Multiple submitters TP63-Related Spectrum Disorders
p.Leu562Pro Multiple submitters ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Likely pathogenic 59

p.Ala354Glu Multiple submitters split hand-foot malformation 4
p.Arg655Ter Multiple submitters limb-mammary syndrome
p.Cys561Tyr Multiple submitters TP63-Related Spectrum Disorders
p.Gln9Ter Multiple submitters Inborn genetic diseases
p.Glu678Gln Multiple submitters split hand-foot malformation 4 ⚠
p.Ile324del Multiple submitters TP63-related disorder
p.Pro590Leu Multiple submitters TP63-Related Spectrum Disorders
c.1129+1G>A Single submitter ADULT syndrome
c.579+1G>A Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Ala234fs Single submitter TP63-related disorder
p.Ala524Val Single submitter TP63-related disorder ⚠
p.Ala641Val Single submitter ⚠
p.Arg266Gly Single submitter
p.Arg266Leu Single submitter TP63-Related Spectrum Disorders
p.Arg266Pro Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Arg319Pro Single submitter TP63-Related Spectrum Disorders
p.Arg343Leu Single submitter TP63-Related Spectrum Disorders
p.Arg350Gly Single submitter
p.Arg643Gln Single submitter TP63-related disorder ⚠
p.Arg643Ter Single submitter limb-mammary syndrome
p.Asn246Lys Single submitter TP63-Related Spectrum Disorders
p.Asn309Asp Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Cys244Phe Single submitter TP63-Related Spectrum Disorders
p.Cys312Gly Single submitter
p.Cys312Phe Single submitter TP63-Related Spectrum Disorders
p.Cys347Tyr Single submitter TP63-related disorder
p.Cys561Gly Single submitter TP63-Related Spectrum Disorders
p.Gln294Arg Single submitter split hand-foot malformation 4
p.Glu197Gln Single submitter auditory neuropathy ⚠
p.Gly173Ser Single submitter TP63-Related Spectrum Disorders
p.Gly315del Single submitter
p.Gly315Glu Single submitter TP63-related disorder
p.Gly569Arg Single submitter TP63-related disorder
p.His236Pro Single submitter TP63-related disorder
p.His247Asp Single submitter TP63-related disorder
p.Ile549Asn Single submitter Rapp-Hodgkin syndrome
p.Ile573dup Single submitter
p.Ile597Phe Single submitter TP63-Related Spectrum Disorders
p.Leu116fs Single submitter ADULT syndrome
p.Leu287fs Single submitter Rapp-Hodgkin syndrome
p.Leu602Pro Single submitter
p.Lys188_Ala190del Single submitter split hand-foot malformation 4
p.Met1Ile Single submitter Furrowed tongue
p.Met531fs Single submitter TP63-related disorder
p.Pro166His Single submitter TP63-Related Spectrum Disorders
p.Pro245Ser Single submitter ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
p.Pro348Ser Single submitter
p.Pro428Leu Single submitter Male infertility with spermatogenesis disorder
p.Pro590Ser Single submitter TP63-Related Spectrum Disorders
p.Ser167Phe Single submitter Inborn genetic diseases
p.Ser285fs Single submitter
p.Ser310Asn Single submitter TP63-Related Spectrum Disorders
p.Ser560del Single submitter ADULT syndrome
p.Ser580fs Single submitter TP63-related disorder
p.Thr300Met Single submitter split hand-foot malformation 4
p.Trp658Ter Single submitter TP63-Related Spectrum Disorders
p.Tyr202Cys Single submitter
p.Tyr202His Single submitter TP63-Related Spectrum Disorders
p.Arg338Cys No assertion criteria ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3

Conflicting classifications of pathogenicity 48

c.1212+6T>C Single submitter
c.1213-12T>A Single submitter TP63-Related Spectrum Disorders
c.766+5G>A Single submitter orofacial cleft 8
c.992+10G>A Single submitter TP63-Related Spectrum Disorders
c.992+9C>T Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*1181T>C Single submitter TP63-Related Spectrum Disorders
c.*1939T>G Single submitter TP63-Related Spectrum Disorders
c.*2426C>T Single submitter TP63-Related Spectrum Disorders
p.Ala145= Single submitter TP63-Related Spectrum Disorders
p.Ala227Thr Single submitter TP63-Related Spectrum Disorders ⚠
p.Ala489Thr Single submitter orofacial cleft 8 ⚠
p.Ala513Pro Single submitter TP63-Related Spectrum Disorders ⚠
p.Ala554Val Single submitter TP63-Related Spectrum Disorders ⚠
p.Arg226= Single submitter TP63-Related Spectrum Disorders
p.Arg37Ter Single submitter TP63-related disorder ⚠
p.Arg408His Single submitter TP63-Related Spectrum Disorders ⚠
p.Arg487Cys Single submitter TP63-related disorder
p.Arg605Gln Single submitter TP63-Related Spectrum Disorders ⚠
p.Arg668His Single submitter TP63-Related Spectrum Disorders
p.Asn168= Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Asp603His Single submitter TP63-Related Spectrum Disorders ⚠
p.Cys244Tyr Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ⚠
p.Cys558Trp Single submitter TP63-Related Spectrum Disorders ⚠
p.Gln125Pro Single submitter TP63-Related Spectrum Disorders ⚠
p.Gln70His Single submitter TP63-Related Spectrum Disorders ⚠
p.Glu268Lys Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ⚠
p.Glu609= Single submitter TP63-Related Spectrum Disorders
p.His28Gln Single submitter TP63-Related Spectrum Disorders ⚠
p.Leu159Phe Single submitter TP63-Related Spectrum Disorders ⚠
p.Leu587= Single submitter TP63-Related Spectrum Disorders
p.Lys233= Single submitter TP63-Related Spectrum Disorders
p.Lys361= Single submitter TP63-Related Spectrum Disorders
p.Lys468= Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Met216Ile Single submitter Inborn genetic diseases
p.Met228Val Single submitter Inborn genetic diseases ⚠
p.Phe552Cys Single submitter TP63-Related Spectrum Disorders ⚠
p.Pro456Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Pro528Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser101= Single submitter TP63-Related Spectrum Disorders
p.Ser129= Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Ser189Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser458= Single submitter orofacial cleft 8
p.Ser548= Single submitter orofacial cleft 8
p.Thr300= Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Thr451Ser Single submitter ADULT syndrome ⚠
p.Thr494Ala Single submitter TP63-Related Spectrum Disorders ⚠
p.Val230Leu Single submitter orofacial cleft 8 ⚠
p.Val626Gly Single submitter Inborn genetic diseases ⚠

Benign 70

c.1129+125C>G Multiple submitters
c.1130-22A>G Multiple submitters
c.1212+79A>G Multiple submitters
c.1349+269G>T Multiple submitters
c.1349+40G>C Multiple submitters
c.1349+41G>A Multiple submitters
c.1350-23T>C Multiple submitters
c.1350-34T>G Multiple submitters
c.191+24T>C Multiple submitters
c.324+166C>G Multiple submitters
c.324+76T>C Multiple submitters
c.766+34T>G Multiple submitters
c.766+42G>A Multiple submitters
c.992+121C>T Multiple submitters
c.*2216G>A Multiple submitters ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*2345C>T Multiple submitters ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*435C>T Multiple submitters TP63-Related Spectrum Disorders
c.*45C>T Multiple submitters TP63-Related Spectrum Disorders
c.*541G>A Multiple submitters TP63-Related Spectrum Disorders
c.1129+296dup Single submitter
c.1130-237T>C Single submitter
c.1130-283A>G Single submitter
c.1213-4A>G Single submitter TP63-Related Spectrum Disorders
c.1349+40G>T Single submitter
c.1350-34T>C Single submitter
c.1507+20G>C Single submitter TP63-Related Spectrum Disorders
c.1507+264C>T Single submitter
c.1507+269A>G Single submitter
c.1653-264C>T Single submitter
c.191+254C>G Single submitter
c.325-75_325-74del Single submitter
c.579+39T>A Single submitter
c.62+24867G>T Single submitter
c.62+24991T>A Single submitter
c.62+25276G>C Single submitter
c.62+49783A>G Single submitter
c.62+49875T>C Single submitter
c.62+49918G>A Single submitter
c.62+50004G>A Single submitter
c.62+50063C>T Single submitter
c.62+50167A>G Single submitter
c.62+6895T>C Single submitter TP63-Related Spectrum Disorders
c.62+8236_62+8237inv Single submitter TP63-Related Spectrum Disorders
c.62+8236T>C Single submitter TP63-Related Spectrum Disorders
c.63-149A>G Single submitter
c.63-17A>G Single submitter TP63-Related Spectrum Disorders
c.63-30964A>T Single submitter
c.63-336A>G Single submitter
c.63-6066G>A Single submitter
c.63-6274G>T Single submitter
c.63-6311C>T Single submitter
c.63-6388del Single submitter
c.766+294A>G Single submitter
c.767-338A>G Single submitter
c.767-40A>G Single submitter
c.882+15dup Single submitter TP63-Related Spectrum Disorders
c.882+16C>A Single submitter TP63-Related Spectrum Disorders
c.882+304G>A Single submitter
c.992+299T>G Single submitter
c.993-187A>G Single submitter
c.*1386T>C Single submitter orofacial cleft 8
c.*2544del Single submitter
c.*2555dup Single submitter
c.*2636del Single submitter
c.*638C>G Single submitter TP63-Related Spectrum Disorders
p.Ala139= Single submitter TP63-Related Spectrum Disorders
p.Arg266= Single submitter TP63-Related Spectrum Disorders
p.Ile225Val Single submitter TP63-Related Spectrum Disorders
p.Pro496= Single submitter TP63-Related Spectrum Disorders
p.Thr625Ala Single submitter TP63-Related Spectrum Disorders

Benign/Likely benign 30

c.1652+14A>C Multiple submitters TP63-Related Spectrum Disorders
c.192-9_192-8del Multiple submitters TP63-Related Spectrum Disorders
c.324+7G>A Multiple submitters TP63-Related Spectrum Disorders
c.580-11A>T Multiple submitters TP63-Related Spectrum Disorders
c.992+4A>C Multiple submitters TP63-Related Spectrum Disorders
c.*1620T>C Multiple submitters orofacial cleft 8
c.*2002T>G Multiple submitters TP63-Related Spectrum Disorders
c.*2318G>A Multiple submitters ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Ala354= Multiple submitters TP63-Related Spectrum Disorders
p.Ala596= Multiple submitters TP63-Related Spectrum Disorders
p.Arg376His Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Arg7Leu Multiple submitters ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
p.Gln122= Multiple submitters ADULT syndrome
p.Ile280Asn Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Leu529= Multiple submitters orofacial cleft 8
p.Pro133= Multiple submitters TP63-Related Spectrum Disorders
p.Pro166= Multiple submitters ADULT syndrome
p.Pro511Thr Multiple submitters ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Thr144= Multiple submitters TP63-Related Spectrum Disorders
c.*1343T>C Single submitter orofacial cleft 8
c.*1464G>T Single submitter orofacial cleft 8
c.*2016A>G Single submitter TP63-Related Spectrum Disorders
c.*2123C>T Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*2139G>A Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*2477T>G Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*2625A>T Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*379T>A Single submitter TP63-Related Spectrum Disorders
c.*471A>T Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*627T>C Single submitter TP63-Related Spectrum Disorders
c.*854A>G Single submitter orofacial cleft 8

Likely benign 222

c.1213-17del Multiple submitters TP63-Related Spectrum Disorders
c.1350-6145G>A Multiple submitters
c.1508-126C>T Multiple submitters
c.1508-29C>A Multiple submitters
c.1652+46G>A Multiple submitters
c.579+8C>T Multiple submitters TP63-Related Spectrum Disorders
c.63-1G>C Multiple submitters TP63-Related Spectrum Disorders
c.882+19A>T Multiple submitters TP63-Related Spectrum Disorders
c.883-88G>C Multiple submitters
c.992+8G>A Multiple submitters TP63-Related Spectrum Disorders
c.993-18C>A Multiple submitters TP63-Related Spectrum Disorders
p.Ala85= Multiple submitters TP63-Related Spectrum Disorders
p.Glu678= Multiple submitters TP63-Related Spectrum Disorders
p.Gly569= Multiple submitters orofacial cleft 8
p.Leu525= Multiple submitters ADULT syndrome
p.Pro218= Multiple submitters ADULT syndrome
p.Pro504= Multiple submitters TP63-Related Spectrum Disorders
p.Pro52= Multiple submitters ADULT syndrome
p.Pro527= Multiple submitters TP63-Related Spectrum Disorders
p.Pro532= Multiple submitters TP63-Related Spectrum Disorders
p.Pro542= Multiple submitters ADULT syndrome
p.Ser365= Multiple submitters ADULT syndrome
p.Ser530= Multiple submitters TP63-Related Spectrum Disorders
p.Ser533= Multiple submitters ADULT syndrome
p.Ser535= Multiple submitters TP63-Related Spectrum Disorders
p.Thr238= Multiple submitters TP63-Related Spectrum Disorders
p.Tyr134= Multiple submitters ADULT syndrome
c.1129+11G>A Single submitter TP63-Related Spectrum Disorders
c.1129+14G>A Single submitter TP63-Related Spectrum Disorders
c.1129+17G>A Single submitter TP63-Related Spectrum Disorders
c.1129+202A>C Single submitter
c.1130-16A>G Single submitter TP63-Related Spectrum Disorders
c.1130-17C>T Single submitter TP63-Related Spectrum Disorders
c.1130-18G>A Single submitter TP63-Related Spectrum Disorders
c.1130-6C>T Single submitter TP63-Related Spectrum Disorders
c.1130-8T>C Single submitter TP63-Related Spectrum Disorders
c.1212+15G>A Single submitter TP63-Related Spectrum Disorders
c.1213-10A>G Single submitter TP63-Related Spectrum Disorders
c.1213-12T>C Single submitter TP63-Related Spectrum Disorders
c.1213-20C>T Single submitter TP63-Related Spectrum Disorders
c.1349+14C>T Single submitter TP63-Related Spectrum Disorders
c.1349+15G>A Single submitter TP63-Related Spectrum Disorders
c.1350-4951T>C Single submitter
c.1350-5671A>G Single submitter
c.1350-56A>C Single submitter
c.1350-6222C>T Single submitter
c.1350-6291C>T Single submitter
c.1350-62A>G Single submitter
c.1350-6315C>A Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.1507+10T>C Single submitter TP63-Related Spectrum Disorders
c.1507+300T>C Single submitter
c.1507+7G>A Single submitter TP63-Related Spectrum Disorders
c.1508-18C>T Single submitter TP63-Related Spectrum Disorders
c.1652+14A>G Single submitter TP63-Related Spectrum Disorders
c.1652+17T>C Single submitter TP63-Related Spectrum Disorders
c.1652+18G>A Single submitter TP63-Related Spectrum Disorders
c.1652+7C>T Single submitter TP63-Related Spectrum Disorders
c.1653-10C>T Single submitter TP63-Related Spectrum Disorders
c.1653-15C>T Single submitter TP63-Related Spectrum Disorders
c.1653-18_1653-5del Single submitter TP63-Related Spectrum Disorders
c.1746+10T>A Single submitter TP63-Related Spectrum Disorders
c.1747-10T>G Single submitter TP63-Related Spectrum Disorders
c.1747-16_1747-15insCC Single submitter TP63-Related Spectrum Disorders
c.1747-18C>T Single submitter TP63-Related Spectrum Disorders
c.191+275A>C Single submitter
c.191+8T>A Single submitter TP63-Related Spectrum Disorders
c.191+9A>G Single submitter TP63-Related Spectrum Disorders
c.192-287A>G Single submitter
c.192-9A>G Single submitter TP63-Related Spectrum Disorders
c.324+11C>T Single submitter TP63-Related Spectrum Disorders
c.325-12del Single submitter
c.325-16C>G Single submitter TP63-Related Spectrum Disorders
c.325-18195A>G Single submitter
c.325-18252dup Single submitter
c.325-268A>G Single submitter
c.325-7C>A Single submitter TP63-Related Spectrum Disorders
c.56+19G>T Single submitter
c.579+11C>T Single submitter TP63-Related Spectrum Disorders
c.579+158T>A Single submitter
c.579+16A>G Single submitter TP63-Related Spectrum Disorders
c.579+17C>T Single submitter TP63-Related Spectrum Disorders
c.579+18G>A Single submitter TP63-Related Spectrum Disorders
c.579+19CA[3] Single submitter TP63-Related Spectrum Disorders
c.580-17G>T Single submitter TP63-Related Spectrum Disorders
c.62+18A>G Single submitter TP63-Related Spectrum Disorders
c.62+225C>T Single submitter
c.62+25231C>T Single submitter
c.63-18C>A Single submitter TP63-Related Spectrum Disorders
c.63-20T>A Single submitter TP63-Related Spectrum Disorders
c.766+104C>T Single submitter
c.766+105G>A Single submitter
c.766+11T>C Single submitter TP63-Related Spectrum Disorders
c.767-17del Single submitter TP63-Related Spectrum Disorders
c.767-333C>T Single submitter
c.767-4G>A Single submitter TP63-Related Spectrum Disorders
c.767-93T>C Single submitter
c.882+17C>A Single submitter TP63-Related Spectrum Disorders
c.882+17C>T Single submitter TP63-Related Spectrum Disorders
c.882+18A>G Single submitter TP63-Related Spectrum Disorders
c.882+19A>G Single submitter TP63-Related Spectrum Disorders
c.882+20A>C Single submitter TP63-Related Spectrum Disorders
c.882+321T>G Single submitter
c.882+8G>A Single submitter TP63-Related Spectrum Disorders
c.883-10T>C Single submitter TP63-Related Spectrum Disorders
c.883-139A>G Single submitter
c.883-15A>G Single submitter TP63-Related Spectrum Disorders
c.992+12A>G Single submitter TP63-Related Spectrum Disorders
c.992+19A>G Single submitter TP63-Related Spectrum Disorders
c.993-15T>C Single submitter TP63-Related Spectrum Disorders
c.993-19C>T Single submitter
c.993-5C>T Single submitter TP63-Related Spectrum Disorders
p.Ala150= Single submitter TP63-Related Spectrum Disorders
p.Ala150Thr Single submitter TP63-Related Spectrum Disorders
p.Ala158= Single submitter
p.Ala187= Single submitter TP63-Related Spectrum Disorders
p.Ala554= Single submitter TP63-Related Spectrum Disorders
p.Ala623= Single submitter TP63-Related Spectrum Disorders
p.Ala9= Single submitter TP63-Related Spectrum Disorders
p.Arg319= Single submitter
p.Arg338= Single submitter TP63-Related Spectrum Disorders
p.Arg393= Single submitter TP63-Related Spectrum Disorders
p.Arg594= Single submitter TP63-Related Spectrum Disorders
p.Arg605= Single submitter TP63-Related Spectrum Disorders
p.Arg618= Single submitter TP63-Related Spectrum Disorders
p.Arg669His Single submitter TP63-Related Spectrum Disorders
p.Arg674= Single submitter TP63-Related Spectrum Disorders
p.Arg7= Single submitter
p.Asn126= Single submitter TP63-Related Spectrum Disorders
p.Asn135= Single submitter TP63-Related Spectrum Disorders
p.Asn246= Single submitter TP63-Related Spectrum Disorders
p.Asn254= Single submitter TP63-Related Spectrum Disorders
p.Asn270= Single submitter
p.Asn370= Single submitter TP63-Related Spectrum Disorders
p.Asn381= Single submitter TP63-Related Spectrum Disorders
p.Asn47= Single submitter TP63-Related Spectrum Disorders
p.Asn488= Single submitter TP63-Related Spectrum Disorders
p.Asn662= Single submitter TP63-Related Spectrum Disorders
p.Asp157= Single submitter TP63-Related Spectrum Disorders
p.Asp497= Single submitter TP63-Related Spectrum Disorders
p.Asp563= Single submitter TP63-Related Spectrum Disorders
p.Asp583= Single submitter Inborn genetic diseases
p.Cys312= Single submitter TP63-Related Spectrum Disorders
p.Gln363= Single submitter
p.Gln568= Single submitter TP63-Related Spectrum Disorders
p.Glu298= Single submitter TP63-Related Spectrum Disorders
p.Glu48Asp Single submitter TP63-Related Spectrum Disorders
p.Glu636= Single submitter TP63-Related Spectrum Disorders
p.Glu657= Single submitter TP63-Related Spectrum Disorders
p.Gly269= Single submitter TP63-Related Spectrum Disorders
p.Gly296= Single submitter TP63-Related Spectrum Disorders
p.Gly315= Single submitter TP63-Related Spectrum Disorders
p.Gly332= Single submitter TP63-Related Spectrum Disorders
p.Gly336= Single submitter TP63-Related Spectrum Disorders
p.Gly507= Single submitter TP63-Related Spectrum Disorders
p.Gly557= Single submitter TP63-Related Spectrum Disorders
p.Gly629Ser Single submitter TP63-Related Spectrum Disorders
p.His236= Single submitter TP63-Related Spectrum Disorders
p.His509= Single submitter TP63-Related Spectrum Disorders
p.His536= Single submitter TP63-Related Spectrum Disorders
p.His608= Single submitter TP63-Related Spectrum Disorders
p.Ile280= Single submitter TP63-Related Spectrum Disorders
p.Ile344= Single submitter TP63-Related Spectrum Disorders
p.Ile385= Single submitter TP63-Related Spectrum Disorders
p.Ile417= Single submitter TP63-Related Spectrum Disorders
p.Ile432= Single submitter
p.Ile589= Single submitter TP63-Related Spectrum Disorders
p.Ile66= Single submitter TP63-Related Spectrum Disorders
p.Leu287= Single submitter TP63-Related Spectrum Disorders
p.Leu335= Single submitter TP63-Related Spectrum Disorders
p.Leu401= Single submitter TP63-Related Spectrum Disorders
p.Leu414= Single submitter TP63-Related Spectrum Disorders
p.Leu490= Single submitter
p.Leu50= Single submitter
p.Leu556= Single submitter
p.Lys200= Single submitter TP63-Related Spectrum Disorders
p.Lys32= Single submitter TP63-Related Spectrum Disorders
p.Lys369= Single submitter TP63-Related Spectrum Disorders
p.Lys418= Single submitter TP63-Related Spectrum Disorders
p.Phe306= Single submitter TP63-Related Spectrum Disorders
p.Pro106= Single submitter TP63-Related Spectrum Disorders
p.Pro148= Single submitter TP63-Related Spectrum Disorders
p.Pro152= Single submitter TP63-Related Spectrum Disorders
p.Pro163= Single submitter TP63-Related Spectrum Disorders
p.Pro174= Single submitter TP63-Related Spectrum Disorders
p.Pro210= Single submitter TP63-Related Spectrum Disorders
p.Pro292= Single submitter
p.Pro348= Single submitter TP63-Related Spectrum Disorders
p.Pro377= Single submitter TP63-Related Spectrum Disorders
p.Pro539= Single submitter TP63-Related Spectrum Disorders
p.Pro590= Single submitter TP63-Related Spectrum Disorders
p.Pro653= Single submitter TP63-Related Spectrum Disorders
p.Ser153= Single submitter TP63-Related Spectrum Disorders
p.Ser180= Single submitter TP63-Related Spectrum Disorders
p.Ser184= Single submitter TP63-Related Spectrum Disorders
p.Ser189= Single submitter TP63-Related Spectrum Disorders
p.Ser471= Single submitter TP63-Related Spectrum Disorders
p.Ser551= Single submitter Inborn genetic diseases
p.Ser559= Single submitter TP63-Related Spectrum Disorders
p.Ser92= Single submitter TP63-Related Spectrum Disorders
p.Thr112= Single submitter TP63-Related Spectrum Disorders
p.Thr155= Single submitter TP63-Related Spectrum Disorders
p.Thr186= Single submitter TP63-Related Spectrum Disorders
p.Thr208= Single submitter TP63-Related Spectrum Disorders
p.Thr25= Single submitter TP63-Related Spectrum Disorders
p.Thr297= Single submitter TP63-Related Spectrum Disorders
p.Thr374= Single submitter TP63-Related Spectrum Disorders
p.Thr39= Single submitter TP63-Related Spectrum Disorders
p.Thr434= Single submitter TP63-Related Spectrum Disorders
p.Thr434Met Single submitter TP63-Related Spectrum Disorders
p.Thr491= Single submitter TP63-Related Spectrum Disorders
p.Thr508= Single submitter TP63-Related Spectrum Disorders
p.Thr534= Single submitter TP63-Related Spectrum Disorders
p.Thr567= Single submitter TP63-Related Spectrum Disorders
p.Tyr149= Single submitter TP63-Related Spectrum Disorders
p.Tyr275= Single submitter
p.Tyr304= Single submitter TP63-Related Spectrum Disorders
p.Tyr411= Single submitter TP63-Related Spectrum Disorders
p.Val237= Single submitter TP63-Related Spectrum Disorders
p.Val276= Single submitter TP63-Related Spectrum Disorders
p.Val334= Single submitter TP63-Related Spectrum Disorders
c.1507+8C>T No assertion criteria TP63-related disorder
p.Ser38= No assertion criteria TP63-related disorder

Uncertain significance 324

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

c.1507+6_1507+7del Multiple submitters TP63-Related Spectrum Disorders
c.1746+5G>A Multiple submitters TP63-Related Spectrum Disorders
p.Ala524Thr Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Ala85Val Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Arg21His Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Arg376Cys Multiple submitters Inborn genetic diseases ⚠
p.Arg37Gln Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Arg594Gln Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Arg669Cys Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Arg674His Multiple submitters ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Arg7Trp Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Arg97Cys Multiple submitters split hand-foot malformation 4 ⚠
p.Arg97His Multiple submitters ADULT syndrome ⚠
p.Asn305Lys Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Asn370Thr Multiple submitters Inborn genetic diseases ⚠
p.Asn381Ser Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Asn467Ser Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Asp121Gly Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Asp8fs Multiple submitters ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
p.Gln123His Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Gln439Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu609Lys Multiple submitters ADULT syndrome
p.Glu680Asp Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Gly371Ser Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Gly518Glu Multiple submitters Inborn genetic diseases
p.Ile96Val Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Lys232Thr Multiple submitters split hand-foot malformation 4 ⚠
p.Met506Ile Multiple submitters limb-mammary syndrome ⚠
p.Met510Ile Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Pro163Ser Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Pro17Arg Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Pro289Ser Multiple submitters Inborn genetic diseases ⚠
p.Pro465Leu Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Pro484Thr Multiple submitters Inborn genetic diseases ⚠
p.Pro528Arg Multiple submitters TP63-related disorder ⚠
p.Pro528Gln Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Pro532Ala Multiple submitters ADULT syndrome ⚠
p.Ser389Phe Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Ser41Phe Multiple submitters TP63-related disorder ⚠
p.Ser612del Multiple submitters TP63-Related Spectrum Disorders
p.Ser621Gly Multiple submitters limb-mammary syndrome ⚠
p.Thr144Met Multiple submitters Inborn genetic diseases ⚠
p.Thr196Ser Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Thr238Met Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Thr374Met Multiple submitters ADULT syndrome ⚠
p.Thr493Ala Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Thr494Ile Multiple submitters ADULT syndrome ⚠
p.Thr538Ala Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Thr566Met Multiple submitters ADULT syndrome ⚠
p.Thr633Ser Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Tyr402His Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Val237Ile Multiple submitters TP63-Related Spectrum Disorders ⚠
p.Val23Ile Multiple submitters TP63-Related Spectrum Disorders ⚠
c.1129+5G>A Single submitter TP63-Related Spectrum Disorders
c.1212+4G>C Single submitter TP63-Related Spectrum Disorders
c.1349+4A>T Single submitter
c.1350-34_1350-23delinsGTGCTCACCATC Single submitter
c.1350-5670A>G Single submitter
c.1350-6232G>A Single submitter
c.1350-6262T>A Single submitter
c.1350-6263G>A Single submitter ADULT syndrome
c.1350-6290C>T Single submitter
c.1350-6328T>A Single submitter
c.1350-7T>A Single submitter ADULT syndrome
c.1507+3A>T Single submitter TP63-related ectodermal dysplasia
c.1507+4A>G Single submitter TP63-Related Spectrum Disorders
c.1653-9C>T Single submitter
c.191+5G>C Single submitter muscular dystrophy
c.324+6T>A Single submitter TP63-Related Spectrum Disorders
c.325-18411A>G Single submitter ADULT syndrome
c.580-3C>G Single submitter
c.63-1G>T Single submitter
c.766+3A>G Single submitter orofacial cleft 8
c.992+14G>T Single submitter TP63-Related Spectrum Disorders
c.992+6T>G Single submitter
c.*101C>T Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*1164A>G Single submitter TP63-Related Spectrum Disorders
c.*1169T>C Single submitter TP63-Related Spectrum Disorders
c.*1217T>C Single submitter TP63-Related Spectrum Disorders
c.*1248C>T Single submitter TP63-Related Spectrum Disorders
c.*1377C>T Single submitter orofacial cleft 8
c.*1437C>G Single submitter TP63-Related Spectrum Disorders
c.*1472A>G Single submitter orofacial cleft 8
c.*1702G>A Single submitter orofacial cleft 8
c.*1748A>G Single submitter TP63-Related Spectrum Disorders
c.*1846C>T Single submitter orofacial cleft 8
c.*1959A>T Single submitter orofacial cleft 8
c.*2009T>C Single submitter orofacial cleft 8
c.*2155G>A Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*2162C>A Single submitter TP63-Related Spectrum Disorders
c.*2197C>A Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*2205A>G Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*221G>A Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*2273A>G Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*232T>C Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*2357C>A Single submitter TP63-Related Spectrum Disorders
c.*280G>A Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*295T>A Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
c.*382A>G Single submitter TP63-Related Spectrum Disorders
c.*736T>G Single submitter TP63-Related Spectrum Disorders
c.*759G>A Single submitter TP63-Related Spectrum Disorders
c.*802G>A Single submitter TP63-Related Spectrum Disorders
c.*803G>A Single submitter orofacial cleft 8
c.*820C>T Single submitter orofacial cleft 8
c.*966C>T Single submitter orofacial cleft 8
p.Ala139Val Single submitter TP63-Related Spectrum Disorders ⚠
p.Ala145Glu Single submitter TP63-Related Spectrum Disorders ⚠
p.Ala158Val Single submitter TP63-Related Spectrum Disorders ⚠
p.Ala273Val Single submitter TP63-Related Spectrum Disorders
p.Ala513Thr Single submitter TP63-Related Spectrum Disorders ⚠
p.Ala9Gly Single submitter TP63-Related Spectrum Disorders ⚠
p.Arg21Cys Single submitter orofacial cleft 8 ⚠
p.Arg226His Single submitter TP63-Related Spectrum Disorders ⚠
p.Arg283Gly Single submitter TP63-Related Spectrum Disorders ⚠
p.Arg338His Single submitter ⚠
p.Arg343Gly Single submitter TP63-Related Spectrum Disorders ⚠
p.Arg350Lys Single submitter ⚠
p.Arg352Gly Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ⚠
p.Arg487His Single submitter skeletal dysplasia ⚠
p.Arg605Trp Single submitter TP63-Related Spectrum Disorders ⚠
p.Arg618Gln Single submitter Inborn genetic diseases ⚠
p.Arg618Trp Single submitter TP63-Related Spectrum Disorders
p.Arg634Gln Single submitter TP63-Related Spectrum Disorders ⚠
p.Arg634Trp Single submitter TP63-Related Spectrum Disorders
p.Arg637His Single submitter TP63-Related Spectrum Disorders
p.Arg637Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Arg647His Single submitter TP63-Related Spectrum Disorders ⚠
p.Arg655Gln Single submitter TP63-Related Spectrum Disorders
p.Asn118Tyr Single submitter ⚠
p.Asn141Lys Single submitter TP63-Related Spectrum Disorders ⚠
p.Asn246Asp Single submitter TP63-Related Spectrum Disorders ⚠
p.Asn270Ser Single submitter ADULT syndrome ⚠
p.Asn309Ser Single submitter ⚠
p.Asn317Lys Single submitter ⚠
p.Asn370Lys Single submitter TP63-Related Spectrum Disorders ⚠
p.Asn370Ser Single submitter TP63-Related Spectrum Disorders ⚠
p.Asn47Asp Single submitter TP63-Related Spectrum Disorders ⚠
p.Asn483Lys Single submitter TP63-Related Spectrum Disorders ⚠
p.Asn488Lys Single submitter TP63-Related Spectrum Disorders ⚠
p.Asn517Ser Single submitter TP63-Related Spectrum Disorders ⚠
p.Asn662Ser Single submitter TP63-Related Spectrum Disorders ⚠
p.Asn670Asp Single submitter Inborn genetic diseases
p.Asn670Ser Single submitter ADULT syndrome ⚠
p.Asp105Asn Single submitter TP63-Related Spectrum Disorders ⚠
p.Asp121Asn Single submitter TP63-related disorder
p.Asp137Glu Single submitter TP63-Related Spectrum Disorders ⚠
p.Asp137His Single submitter orofacial cleft 8 ⚠
p.Asp16Gly Single submitter TP63-Related Spectrum Disorders ⚠
p.Asp583Tyr Single submitter TP63-Related Spectrum Disorders ⚠
p.Asp583Val Single submitter TP63-Related Spectrum Disorders ⚠
p.Asp664Gly Single submitter TP63-Related Spectrum Disorders ⚠
p.Asp83Val Single submitter TP63-Related Spectrum Disorders ⚠
p.Cys203= Single submitter ADULT syndrome
p.Cys203Tyr Single submitter TP63-Related Spectrum Disorders ⚠
p.Cys244Arg Single submitter TP63-Related Spectrum Disorders ⚠
p.Cys345Phe Single submitter TP63-related disorder ⚠
p.Cys95Tyr Single submitter TP63-Related Spectrum Disorders ⚠
p.Gln11= Single submitter
p.Gln122His Single submitter TP63-Related Spectrum Disorders ⚠
p.Gln123Glu Single submitter TP63-Related Spectrum Disorders ⚠
p.Gln12Pro Single submitter TP63-Related Spectrum Disorders ⚠
p.Gln212Arg Single submitter TP63-Related Spectrum Disorders ⚠
p.Gln425Glu Single submitter TP63-Related Spectrum Disorders ⚠
p.Gln429Arg Single submitter TP63-Related Spectrum Disorders
p.Gln42Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Gln440His Single submitter TP63-Related Spectrum Disorders ⚠
p.Gln441_Gln442del Single submitter TP63-Related Spectrum Disorders
p.Gln441Arg Single submitter TP63-Related Spectrum Disorders
p.Gln454His Single submitter ADULT syndrome ⚠
p.Gln454Lys Single submitter Inborn genetic diseases ⚠
p.Gln485Arg Single submitter TP63-Related Spectrum Disorders ⚠
p.Gln575Arg Single submitter ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ⚠
p.Gln64Glu Single submitter ⚠
p.Gln673Arg Single submitter Inborn genetic diseases ⚠
p.Gln673Ter Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
p.Glu24Asp Single submitter TP63-Related Spectrum Disorders ⚠
p.Glu255Lys Single submitter TP63-Related Spectrum Disorders ⚠
p.Glu422Lys Single submitter ⚠
p.Glu433Gln Single submitter Inborn genetic diseases ⚠
p.Glu48Lys Single submitter TP63-Related Spectrum Disorders ⚠
p.Glu53Asp Single submitter TP63-Related Spectrum Disorders ⚠
p.Glu657Gly Single submitter TP63-Related Spectrum Disorders ⚠
p.Glu678Lys Single submitter ⚠
p.Gly127Ser Single submitter TP63-Related Spectrum Disorders ⚠
p.Gly314Arg Single submitter TP63-related disorder ⚠
p.Gly498Ser Single submitter TP63-Related Spectrum Disorders ⚠
p.Gly629Ala Single submitter TP63-Related Spectrum Disorders ⚠
p.Gly635Ser Single submitter TP63-Related Spectrum Disorders ⚠
p.Gly679Glu Single submitter ADULT syndrome ⚠
p.His383Arg Single submitter TP63-Related Spectrum Disorders ⚠
p.His430Asn Single submitter TP63-Related Spectrum Disorders ⚠
p.His443Pro Single submitter TP63-Related Spectrum Disorders ⚠
p.His443Tyr Single submitter TP63-Related Spectrum Disorders ⚠
p.His445Arg Single submitter TP63-Related Spectrum Disorders ⚠
p.His509Tyr Single submitter ADULT syndrome ⚠
p.His536Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.His536Tyr Single submitter Inborn genetic diseases
p.His615Tyr Single submitter TP63-Related Spectrum Disorders ⚠
p.Ile124Thr Single submitter Inborn genetic diseases
p.Ile225Phe Single submitter TP63-Related Spectrum Disorders ⚠
p.Ile225Thr Single submitter TP63-Related Spectrum Disorders ⚠
p.Ile321Val Single submitter TP63-Related Spectrum Disorders
p.Ile344Asn Single submitter ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 ⚠
p.Ile390Asn Single submitter limb-mammary syndrome ⚠
p.Ile390Val Single submitter TP63-Related Spectrum Disorders ⚠
p.Ile432Thr Single submitter TP63-Related Spectrum Disorders ⚠
p.Ile432Val Single submitter TP63-Related Spectrum Disorders ⚠
p.Ile453Val Single submitter TP63-Related Spectrum Disorders ⚠
p.Ile482Thr Single submitter TP63-Related Spectrum Disorders ⚠
p.Ile495Val Single submitter TP63-Related Spectrum Disorders ⚠
p.Ile573Val Single submitter TP63-Related Spectrum Disorders ⚠
p.Ile601Thr Single submitter ankyloblepharon-ectodermal defects-cleft lip/palate syndrome ⚠
p.Leu159Val Single submitter TP63-Related Spectrum Disorders ⚠
p.Leu481Phe Single submitter TP63-Related Spectrum Disorders ⚠
p.Leu519= Single submitter TP63-Related Spectrum Disorders
p.Leu525His Single submitter TP63-Related Spectrum Disorders ⚠
p.Leu525Phe Single submitter TP63-Related Spectrum Disorders ⚠
p.Leu607Pro Single submitter ⚠
p.Leu616Arg Single submitter ADULT syndrome ⚠
p.Leu616fs Single submitter TP63-Related Spectrum Disorders
p.Leu616Phe Single submitter TP63-Related Spectrum Disorders ⚠
p.Lys207Glu Single submitter ⚠
p.Lys233Thr Single submitter ⚠
p.Lys242Arg Single submitter TP63-Related Spectrum Disorders ⚠
p.Lys369Arg Single submitter TP63-Related Spectrum Disorders ⚠
p.Lys375Glu Single submitter ⚠
p.Lys599= Single submitter ADULT syndrome
p.Met1Thr Single submitter
p.Met1Val Single submitter
p.Met307Ile Single submitter TP63-Related Spectrum Disorders ⚠
p.Met387Lys Single submitter ADULT syndrome ⚠
p.Met40Arg Single submitter TP63-Related Spectrum Disorders ⚠
p.Met424Leu Single submitter TP63-Related Spectrum Disorders
p.Met472Ile Single submitter TP63-Related Spectrum Disorders ⚠
p.Met499Ile Single submitter TP63-Related Spectrum Disorders ⚠
p.Met499Thr Single submitter Inborn genetic diseases ⚠
p.Met505Val Single submitter TP63-Related Spectrum Disorders ⚠
p.Met510Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Met510Val Single submitter ADULT syndrome ⚠
p.Met512Val Single submitter ADULT syndrome ⚠
p.Met516Thr Single submitter TP63-Related Spectrum Disorders ⚠
p.Met665Arg Single submitter orofacial cleft 8 ⚠
p.Met93Ile Single submitter TP63-Related Spectrum Disorders ⚠
p.Met93Thr Single submitter ⚠
p.Phe156Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Phe177Ser Single submitter TP63-related disorder ⚠
p.Phe177Val Single submitter Inborn genetic diseases ⚠
p.Phe181Leu Single submitter ADULT syndrome ⚠
p.Phe644Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Pro174Gln Single submitter ⚠
p.Pro174Leu Single submitter ⚠
p.Pro219Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Pro292Ala Single submitter TP63-Related Spectrum Disorders ⚠
p.Pro348Ala Single submitter TP63-Related Spectrum Disorders ⚠
p.Pro348Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Pro377Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Pro377Ser Single submitter TP63-Related Spectrum Disorders ⚠
p.Pro428Ser Single submitter ⚠
p.Pro456Ser Single submitter TP63-Related Spectrum Disorders ⚠
p.Pro492Leu Single submitter TP63-Related Spectrum Disorders
p.Pro539Ser Single submitter ADULT syndrome
p.Pro620Ala Single submitter Inborn genetic diseases ⚠
p.Pro65Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser101Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser128Phe Single submitter ⚠
p.Ser132Gly Single submitter ⚠
p.Ser142Asn Single submitter ⚠
p.Ser147Trp Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser180Ala Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser30Cys Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser311del Single submitter TP63-Related Spectrum Disorders
p.Ser365Leu Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser457Pro Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser458Pro Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser463Phe Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser479Asn Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser51Gly Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser51Ile Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser520Arg Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser520Thr Single submitter ⚠
p.Ser612Ala Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser612Tyr Single submitter ADULT syndrome ⚠
p.Ser622Arg Single submitter Inborn genetic diseases ⚠
p.Ser627Asn Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser630Pro Single submitter TP63-Related Spectrum Disorders ⚠
p.Ser631Asn Single submitter TP63-Related Spectrum Disorders ⚠
p.Thr112Met Single submitter TP63-Related Spectrum Disorders
p.Thr136Ala Single submitter TP63-Related Spectrum Disorders ⚠
p.Thr191Ser Single submitter TP63-Related Spectrum Disorders ⚠
p.Thr193= Single submitter ankyloblepharon filiforme adnatum-cleft palate syndrome
p.Thr193Arg Single submitter TP63-Related Spectrum Disorders ⚠
p.Thr193Lys Single submitter TP63-Related Spectrum Disorders ⚠
p.Thr196Asn Single submitter Inborn genetic diseases ⚠
p.Thr300Lys Single submitter orofacial cleft 8 ⚠
p.Thr410Ile Single submitter TP63-Related Spectrum Disorders ⚠
p.Thr44Ile Single submitter Inborn genetic diseases ⚠
p.Thr44Lys Single submitter ADULT syndrome ⚠
p.Thr494Asn Single submitter TP63-Related Spectrum Disorders ⚠
p.Thr508Ile Single submitter orofacial cleft 8 ⚠
p.Thr522Ile Single submitter ADULT syndrome ⚠