WDR72 — 501 ClinVar variants

All ClinVar germline WDR72 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 233 flagged for review →

11 Pathogenic · 3 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 13 Conflicting · 40 Benign · 9 Benign/Likely benign · 41 Likely benign · 348 Uncertain significance

Full WDR72 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 233

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.

WDR72 p.Ala295Thr Likely pathogenic Single submitter
amelogenesis imperfecta hypomaturation type 2A3

Predictors agree, ClinVar conflicts 5

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

WDR72 p.Arg322His Conflicting Single submitter
Inborn genetic diseases
WDR72 p.Lys767Glu Conflicting Single submitter
Inborn genetic diseases
WDR72 p.Pro1054Leu Conflicting Single submitter
Inborn genetic diseases
WDR72 p.Thr350Ala Conflicting Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Val786Gly Conflicting Single submitter
Inborn genetic diseases

Predictors lean, ClinVar uncertain 198

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 198

WDR72 p.Ala1094Thr Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Ala373Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Ala402Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Ala743Val Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Arg322Ser Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Arg525Lys Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Asn755Lys Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Asp1071His Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Asp173Asn Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Asp382Glu Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Asp393Asn Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Asp495Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Asp869Glu Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Gly403Arg Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.His626Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Ile139Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Ile901Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Leu137Val Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Leu442Pro Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Leu550Phe Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Leu557Ile Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Lys361Glu Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Met329Thr Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Met517Val Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Met917Thr Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Ser19Asn Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Ser291Asn Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Ser475Leu Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Ser75Pro Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Tyr281His Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Tyr952Cys Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Val1052Gly Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Val371Leu Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Val533Leu Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Val560Met Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Ala1094Pro Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Ala145Gly Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Ala373Asp Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Ala439Glu Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Ala63Val Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Ala967Gly Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Arg1043Ile Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Arg120Gln Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Arg30Leu Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Arg322Cys Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Arg554Gln Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Arg601Gln Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Arg896Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Arg956Gln Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Arg956Leu Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Asn1010Ser Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Asn1060Thr Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Asn45Ser Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Asn850Ser Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Asn936Ser Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Asp240Gly Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Asp28Asn Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Asp536His Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Asp579Ala Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Asp609Asn Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Asp73Val Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Asp808Glu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Asp980Tyr Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Cys129Tyr Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Cys215Phe Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Cys490Arg Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Cys534Gly Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Cys549Arg Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Cys653Tyr Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Cys734Ser Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Cys849Tyr Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Cys892Phe Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Cys977Gly Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Gln1026Lys Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Gln256Glu Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Gln282Glu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Gln315Arg Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Gln631Arg Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Gln648His Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Gln752Arg Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Gln779Pro Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Gln77His Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Gln984Pro Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Glu1082Gly Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Glu1082Val Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Glu1086Lys Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Glu302Ala Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Glu319Asp Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Glu38Asp Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Glu598Lys Uncertain significance Single submitter
WDR72 p.Glu622Asp Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Glu721Lys Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Glu932Gln Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Glu932Gly Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Gly182Arg Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Gly510Asp Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Gly535Asp Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Gly640Arg Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Gly753Val Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Gly845Asp Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Gly859Ala Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.His1057Tyr Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.His166Gln Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.His166Pro Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.His267Tyr Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.His353Arg Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.His454Pro Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Ile139Val Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Ile428Ser Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Ile428Val Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Ile430Val Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Ile501Val Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Ile681Val Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Ile884Val Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Ile945Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Leu1037Pro Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Leu137Phe Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Leu176Ser Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Leu43Phe Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Leu473Val Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Leu541Val Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Leu550Arg Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Leu668Val Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Leu797Met Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Leu819Pro Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Leu862Ile Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Leu946Phe Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Leu969Pro Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Leu994Met Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Lys1100Gln Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Lys1100Thr Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Lys383Gln Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Lys817Asn Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Lys913Asn Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Lys959Glu Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Lys973Glu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Met100Arg Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Met1072Val Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Met778Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Met917Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Phe571Val Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Pro1073Ser Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Pro1084Arg Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Pro17His Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Pro294Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Pro643Arg Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Pro695Ser Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Pro780Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Pro827Leu Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Pro885Ala Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3

Predictors split 29

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

WDR72 p.Cys815Tyr Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.His471Arg Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Leu246Arg Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Leu914Ser Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Met121Ile Uncertain significance Multiple submitters
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Tyr582Cys Uncertain significance Multiple submitters
Inborn genetic diseases
WDR72 p.Ala15Thr Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Arg593Gly Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Asp173Glu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Glu585Ala Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Gly575Val Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Gly97Arg Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.His18Arg Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Ile196Asn Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Ile32Thr Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Phe258Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Phe362Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Phe505Leu Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Phe951Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Pro511Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Pro559Arg Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Pro567Gln Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Pro567Leu Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Pro844Leu Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Ser190Phe Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Thr224Ala Uncertain significance Single submitter
Inborn genetic diseases
WDR72 p.Thr34Ala Likely pathogenic Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Val539Leu Uncertain significance Single submitter
amelogenesis imperfecta hypomaturation type 2A3
WDR72 p.Val539Met Uncertain significance Single submitter
Inborn genetic diseases

All WDR72 variants

Pathogenic 11

p.Lys333Ter Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Trp978Ter Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Met778fs Single submitter amelogenesis imperfecta
p.Ser953fs Single submitter Renal tubulopathies
p.Trp236Ter Single submitter Inborn genetic diseases
p.Val491fs Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.1766-2423_1962+1074del No assertion criteria amelogenesis imperfecta
p.Ile430del No assertion criteria amelogenesis imperfecta
p.Leu841Gln No assertion criteria renal tubular acidosis, distal, 4, with hemolytic anemia
p.Ser783Ter No assertion criteria amelogenesis imperfecta hypomaturation type 2A3
p.Ser894fs No assertion criteria amelogenesis imperfecta

Pathogenic/Likely pathogenic 3

p.Arg30Ter Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Arg896Ter Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Gly255fs No assertion criteria distal renal tubular acidosis

Likely pathogenic 36

p.Trp674fs Multiple submitters amelogenesis imperfecta
c.1348+1G>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.2871_2872+7del Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.591+1G>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.711_711+1delinsTT Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.858-1G>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.858-2A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.954+1_954+10del Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.-13+989_7del Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Ala295Thr Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ala716fs Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Ala795fs Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Arg219Ter Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Arg593fs Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Asp764fs Single submitter WDR72-related disorder
p.Cys99Ter Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Gln13Ter Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Gln40Ter Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Gln825Ter Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Glu56Ter Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Gly710fs Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Gly852fs Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Leu693Ter Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Leu955Ter Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Lys185fs Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Lys290fs Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Lys796fs Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Ser245fs Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Ser580Leu Single submitter
p.Ser621Ter Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Ser62Ter Single submitter
p.Thr34Ala Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Trp158Ter Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Trp187Ter Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Asp450fs No assertion criteria WDR72-related disorder
p.Ile159_Cys161dup No assertion criteria distal renal tubular acidosis

Conflicting classifications of pathogenicity 13

c.3149-30CT[10] Single submitter
c.3149-30CT[12] Single submitter
c.3149-30CT[14] Single submitter
c.3254-7T>G Single submitter
p.Arg322His Single submitter Inborn genetic diseases ⚠
p.Lys767Glu Single submitter Inborn genetic diseases ⚠
p.Pro1054= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Pro1054Leu Single submitter Inborn genetic diseases ⚠
p.Thr31= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Thr350Ala Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Val314= Single submitter
p.Val33= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Val786Gly Single submitter Inborn genetic diseases ⚠

Benign 40

c.1348+96G>T Multiple submitters
c.261-8del Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
c.2872+134A>G Multiple submitters
c.2872+42del Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
c.2872+84G>A Multiple submitters
c.339+9A>G Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
c.592-156A>T Multiple submitters
c.955-43C>A Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Lys399Gln Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Met100Val Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Tyr469= Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
c.1103-238del Single submitter
c.1348+188T>C Single submitter
c.153+181T>C Single submitter
c.1569+205C>T Single submitter
c.1962+230A>C Single submitter
c.261-272G>A Single submitter
c.261-85_261-84insCACTTAAGTGCAGCA Single submitter
c.2781-201ATAA[4] Single submitter
c.2872+217A>G Single submitter
c.3149-233C>T Single submitter
c.340-305GTT[3] Single submitter
c.514+272A>C Single submitter
c.591+231CA[14] Single submitter
c.591+231CA[9] Single submitter
c.711+156dup Single submitter
c.711+172T>G Single submitter
c.711+249C>T Single submitter
c.954+115A>G Single submitter
c.954+145A>G Single submitter
c.*1054C>T Single submitter
c.*1739G>A Single submitter
c.*1898G>A Single submitter
c.*1932T>G Single submitter
c.*2081C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2497G>A Single submitter
c.*2808G>T Single submitter
c.*3225T>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3423A>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.3149-17738A>G No assertion criteria WDR72-related disorder

Benign/Likely benign 9

c.1570-11dup Multiple submitters
c.3149-30CT[13] Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
c.857+9A>C Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
c.-7G>A Multiple submitters
p.Leu819Phe Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Leu908= Multiple submitters
p.Lys781Glu Multiple submitters
p.Pro306Leu Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Ser833Ala Multiple submitters

Likely benign 41

p.Gln479His Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Lys866= Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Val613= Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
c.3149-17731C>T Single submitter
c.3149-17744T>C Single submitter
c.3149-30CT[9] Single submitter
c.3254-4C>A Single submitter
c.591+11G>T Single submitter
c.*1279G>C Single submitter
c.*1533C>T Single submitter
c.*1664G>T Single submitter
c.*1734T>C Single submitter
c.*2356C>T Single submitter
c.*2675A>G Single submitter
c.*2947A>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3114A>G Single submitter
c.*3325G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3433G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3575T>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3592A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3689A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3734A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3742G>C Single submitter
c.*3936G>A Single submitter
c.*572C>G Single submitter
c.*588G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*647G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*852G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Arg30Gln Single submitter Inborn genetic diseases
p.Arg896Gln Single submitter Inborn genetic diseases
p.Gln77= Single submitter
p.Gln981Arg Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Gly535Ser Single submitter Inborn genetic diseases
p.Gly710Val Single submitter
p.Ile934Val Single submitter Inborn genetic diseases
p.Leu693= Single submitter
p.Lys873= Single submitter
p.Ser976= Single submitter
p.Thr747Ser Single submitter Inborn genetic diseases
p.Val1101Leu Single submitter Inborn genetic diseases
c.1569+8G>A No assertion criteria WDR72-related disorder

Uncertain significance 348

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

c.*3852T>G Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Ala1094Thr Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ala373Val Multiple submitters Inborn genetic diseases ⚠
p.Ala402Val Multiple submitters Inborn genetic diseases ⚠
p.Ala743Val Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ala795Thr Multiple submitters Inborn genetic diseases
p.Arg322Ser Multiple submitters Inborn genetic diseases ⚠
p.Arg525Lys Multiple submitters Inborn genetic diseases ⚠
p.Asn755Lys Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Asp1071His Multiple submitters Inborn genetic diseases ⚠
p.Asp173Asn Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Asp382Glu Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Asp393Asn Multiple submitters Inborn genetic diseases ⚠
p.Asp495Val Multiple submitters Inborn genetic diseases ⚠
p.Asp869Glu Multiple submitters Inborn genetic diseases ⚠
p.Cys815Tyr Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Gly403Arg Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.His471Arg Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.His626Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile139Thr Multiple submitters Inborn genetic diseases ⚠
p.Ile901Val Multiple submitters Inborn genetic diseases ⚠
p.Leu137Val Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Leu246Arg Multiple submitters Inborn genetic diseases ⚠
p.Leu247= Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
p.Leu442Pro Multiple submitters Inborn genetic diseases ⚠
p.Leu550Phe Multiple submitters Inborn genetic diseases ⚠
p.Leu557Ile Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Leu693Ser Multiple submitters Inborn genetic diseases
p.Leu914Ser Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Lys361Glu Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Met121Ile Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Met329Thr Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Met517Val Multiple submitters Inborn genetic diseases ⚠
p.Met917Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser19Asn Multiple submitters Inborn genetic diseases ⚠
p.Ser291Asn Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ser475Leu Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ser75Pro Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Tyr281His Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Tyr582Cys Multiple submitters Inborn genetic diseases ⚠
p.Tyr952Cys Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Val1052Gly Multiple submitters Inborn genetic diseases ⚠
p.Val371Leu Multiple submitters amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Val533Leu Multiple submitters Inborn genetic diseases ⚠
p.Val560Met Multiple submitters Inborn genetic diseases ⚠
p.Val81= Multiple submitters amelogenesis imperfecta hypomaturation type 2A3
c.1349-17G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.153+14A>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.1569+5_1569+16del Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.1569+7C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.1570-3C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.1962+5G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.1963-10G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.1963-5C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.2872+4A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.2952+20C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.2952+8A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.2953-3C>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.3253+3G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.592-8T>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1006A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1014T>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1172A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1175G>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1183G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1325T>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1350A>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1470T>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1527A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1528C>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1553G>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1577G>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1583T>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1620C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1764T>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*179A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1853A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1859A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1866A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1896T>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*1936A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2003G>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2050C>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2137T>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2209C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2215G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2360C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2378T>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2390C>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2470A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2504T>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2521A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2587G>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2592_*2593insTTGTGTGT Single submitter
c.*2593G>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2593GT[12] Single submitter
c.*2593GT[13] Single submitter
c.*2593GT[14] Single submitter
c.*2620C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2642T>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2648C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2650T>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2650TA[5] Single submitter
c.*2671G>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2675AT[11] Single submitter
c.*2675AT[9] Single submitter
c.*2766G>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2785G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2919T>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*2955A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3016G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3126T>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3128G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3334A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*33C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3459C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3470C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3511A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3514G>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*356T>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3594A>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3627C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3650A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3691G>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*3810T>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*475T>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*497C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*640T>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*723C>T Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*898A>G Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*913G>C Single submitter amelogenesis imperfecta hypomaturation type 2A3
c.*956G>A Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Ala1094Pro Single submitter Inborn genetic diseases ⚠
p.Ala145Gly Single submitter Inborn genetic diseases ⚠
p.Ala15Thr Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ala373Asp Single submitter Inborn genetic diseases ⚠
p.Ala439Glu Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ala553= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Ala553Val Single submitter Inborn genetic diseases
p.Ala63Val Single submitter Inborn genetic diseases ⚠
p.Ala967Gly Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ala995= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Arg1043Ile Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Arg120Gln Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Arg30Leu Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Arg322Cys Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Arg554Gln Single submitter Inborn genetic diseases ⚠
p.Arg593Gly Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Arg601Gln Single submitter Inborn genetic diseases ⚠
p.Arg896Leu Single submitter Inborn genetic diseases ⚠
p.Arg956Gln Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Arg956Leu Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Asn1010Ser Single submitter Inborn genetic diseases ⚠
p.Asn1060Thr Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Asn45Ser Single submitter Inborn genetic diseases ⚠
p.Asn850Ser Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Asn936Ser Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Asp173Glu Single submitter Inborn genetic diseases ⚠
p.Asp240Gly Single submitter Inborn genetic diseases ⚠
p.Asp28Asn Single submitter Inborn genetic diseases ⚠
p.Asp536His Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Asp579Ala Single submitter Inborn genetic diseases ⚠
p.Asp609Asn Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Asp73Val Single submitter Inborn genetic diseases ⚠
p.Asp808Glu Single submitter Inborn genetic diseases ⚠
p.Asp980Tyr Single submitter Inborn genetic diseases ⚠
p.Cys129Tyr Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Cys215Phe Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Cys490Arg Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Cys534Gly Single submitter Inborn genetic diseases ⚠
p.Cys549Arg Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Cys653Tyr Single submitter Inborn genetic diseases ⚠
p.Cys734Ser Single submitter Inborn genetic diseases ⚠
p.Cys849Tyr Single submitter Inborn genetic diseases ⚠
p.Cys892Phe Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Cys90Arg Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Cys977Gly Single submitter Inborn genetic diseases ⚠
p.Gln1026Lys Single submitter Inborn genetic diseases ⚠
p.Gln256Glu Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Gln282Glu Single submitter Inborn genetic diseases ⚠
p.Gln315Arg Single submitter Inborn genetic diseases ⚠
p.Gln631Arg Single submitter Inborn genetic diseases ⚠
p.Gln648His Single submitter Inborn genetic diseases ⚠
p.Gln752Arg Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Gln779Pro Single submitter Inborn genetic diseases ⚠
p.Gln77His Single submitter Inborn genetic diseases ⚠
p.Gln981His Single submitter Inborn genetic diseases
p.Gln984Pro Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Glu1082Gly Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Glu1082Val Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Glu1086Lys Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Glu302Ala Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Glu319= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Glu319Asp Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Glu38Asp Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Glu545= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Glu585Ala Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Glu598Lys Single submitter ⚠
p.Glu622Asp Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Glu721Lys Single submitter Inborn genetic diseases ⚠
p.Glu932Gln Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Glu932Gly Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Gly182Arg Single submitter Inborn genetic diseases ⚠
p.Gly510Asp Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Gly535Asp Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Gly575= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Gly575Val Single submitter Inborn genetic diseases ⚠
p.Gly640Arg Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Gly753Val Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Gly845Asp Single submitter Inborn genetic diseases ⚠
p.Gly859Ala Single submitter Inborn genetic diseases ⚠
p.Gly97Arg Single submitter Inborn genetic diseases ⚠
p.His1057Tyr Single submitter Inborn genetic diseases ⚠
p.His116Gln Single submitter Inborn genetic diseases
p.His166Gln Single submitter Inborn genetic diseases ⚠
p.His166Pro Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.His18Arg Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.His267Tyr Single submitter Inborn genetic diseases ⚠
p.His353Arg Single submitter Inborn genetic diseases ⚠
p.His454Pro Single submitter Inborn genetic diseases ⚠
p.Ile139Val Single submitter Inborn genetic diseases ⚠
p.Ile159del Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Ile196Asn Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ile32Thr Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ile428Ser Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ile428Val Single submitter Inborn genetic diseases ⚠
p.Ile430Val Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ile492= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Ile501Val Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ile681Val Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ile884Val Single submitter Inborn genetic diseases ⚠
p.Ile945Leu Single submitter Inborn genetic diseases ⚠
p.Leu1037Pro Single submitter Inborn genetic diseases ⚠
p.Leu137Phe Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Leu176Ser Single submitter Inborn genetic diseases ⚠
p.Leu229_Val230insLeu Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Leu43Phe Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Leu473_Ser474insTyrGlyLeu Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Leu473Val Single submitter Inborn genetic diseases ⚠
p.Leu541Val Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Leu550Arg Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Leu668Val Single submitter Inborn genetic diseases ⚠
p.Leu797Met Single submitter Inborn genetic diseases ⚠
p.Leu797Phe Single submitter Inborn genetic diseases
p.Leu819Pro Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Leu843Phe Single submitter Inborn genetic diseases
p.Leu862Ile Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Leu946Phe Single submitter Inborn genetic diseases ⚠
p.Leu969Pro Single submitter Inborn genetic diseases ⚠
p.Leu994Met Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Lys1100Gln Single submitter Inborn genetic diseases ⚠
p.Lys1100Thr Single submitter Inborn genetic diseases ⚠
p.Lys318= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Lys383Gln Single submitter Inborn genetic diseases ⚠
p.Lys817Asn Single submitter Inborn genetic diseases ⚠
p.Lys823= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Lys913Asn Single submitter Inborn genetic diseases ⚠
p.Lys937del Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Lys959Glu Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Lys973Glu Single submitter Inborn genetic diseases ⚠
p.Met100Arg Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Met1072Val Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Met778Leu Single submitter Inborn genetic diseases ⚠
p.Met917Leu Single submitter Inborn genetic diseases ⚠
p.Phe119= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Phe258Leu Single submitter Inborn genetic diseases ⚠
p.Phe362Leu Single submitter Inborn genetic diseases ⚠
p.Phe505Leu Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Phe571Val Single submitter Inborn genetic diseases ⚠
p.Phe951Leu Single submitter Inborn genetic diseases ⚠
p.Pro1073Ser Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Pro1084Arg Single submitter Inborn genetic diseases ⚠
p.Pro17His Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Pro294Leu Single submitter Inborn genetic diseases ⚠
p.Pro355Ser Single submitter Inborn genetic diseases
p.Pro366Ser Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Pro511Leu Single submitter Inborn genetic diseases ⚠
p.Pro559Arg Single submitter Inborn genetic diseases ⚠
p.Pro567Gln Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Pro567Leu Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Pro643Arg Single submitter Inborn genetic diseases ⚠
p.Pro695Ser Single submitter Inborn genetic diseases ⚠
p.Pro780Leu Single submitter Inborn genetic diseases ⚠
p.Pro827Leu Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Pro844_Gly845insLeuMetLeuPro Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Pro844Leu Single submitter Inborn genetic diseases ⚠
p.Pro885Ala Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ser1053= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Ser174Cys Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ser190Phe Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ser212Cys Single submitter Inborn genetic diseases ⚠
p.Ser291Thr Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ser360Tyr Single submitter amelogenesis imperfecta hypomaturation type 2A3 ⚠
p.Ser451Tyr Single submitter Inborn genetic diseases ⚠
p.Ser548Ile Single submitter Inborn genetic diseases ⚠
p.Ser628Arg Single submitter Inborn genetic diseases ⚠
p.Ser635Arg Single submitter Inborn genetic diseases ⚠
p.Ser699Asn Single submitter Inborn genetic diseases ⚠
p.Ser760= Single submitter amelogenesis imperfecta hypomaturation type 2A3
p.Ser829Pro Single submitter amelogenesis imperfecta hypomaturation type 2A3