PAX3 — 465 ClinVar variants
All ClinVar germline PAX3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 125 flagged for review →
92 Pathogenic · 16 Pathogenic/Likely pathogenic · 79 Likely pathogenic · 16 Conflicting · 25 Benign · 8 Benign/Likely benign · 83 Likely benign · 146 Uncertain significance
Full PAX3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 125
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 6
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PAX3 p.Asp135Gly
Conflicting
Single submitter
Inborn genetic diseases
-
PAX3 p.Gln264His
Conflicting
Single submitter
Waardenburg syndrome type 1
-
PAX3 p.Gly81Cys
Conflicting
Single submitter
Waardenburg syndrome type 1
- PAX3 p.Ile191Thr Conflicting Single submitter
-
PAX3 p.Pro373Leu
Conflicting
Single submitter
craniofacial-deafness-hand syndrome
-
PAX3 p.Ser180Arg
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 90
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PAX3 p.Ala228Val
Uncertain significance
Multiple submitters
craniofacial-deafness-hand syndrome
-
PAX3 p.Ala411Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PAX3 p.Ala7Ser Uncertain significance Multiple submitters
-
PAX3 p.Arg156Pro
Uncertain significance
Multiple submitters
Waardenburg syndrome type 3
-
PAX3 p.Arg236His
Uncertain significance
Multiple submitters
Waardenburg syndrome type 1
- PAX3 p.Cys70Tyr Uncertain significance Multiple submitters
-
PAX3 p.Glu309Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PAX3 p.Gly127Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PAX3 p.Gly292Arg Uncertain significance Multiple submitters
- PAX3 p.Gly34Cys Uncertain significance Multiple submitters
- PAX3 p.Gly48Ser Uncertain significance Multiple submitters
-
PAX3 p.Ile188Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PAX3 p.Lys122Glu Uncertain significance Multiple submitters
-
PAX3 p.Lys183Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PAX3 p.Met62Lys
Uncertain significance
Multiple submitters
PAX3-related disorder
-
PAX3 p.Pro16Leu
Uncertain significance
Multiple submitters
Waardenburg syndrome
-
PAX3 p.Pro244Ser
Uncertain significance
Multiple submitters
Waardenburg syndrome type 1
- PAX3 p.Pro291Ser Uncertain significance Multiple submitters
- PAX3 p.Pro450Ala Uncertain significance Multiple submitters
- PAX3 p.Ser150Pro Uncertain significance Multiple submitters
-
PAX3 p.Ser187Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PAX3 p.Thr338Ser
Uncertain significance
Multiple submitters
Waardenburg syndrome
-
PAX3 p.Val402Ile
Uncertain significance
Multiple submitters
Waardenburg syndrome
-
PAX3 p.Val402Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PAX3 p.Val60Glu Uncertain significance Multiple submitters
-
PAX3 p.Ala170Asp
Uncertain significance
Single submitter
Waardenburg syndrome type 1
-
PAX3 p.Ala237Pro
Uncertain significance
Single submitter
craniofacial-deafness-hand syndrome
- PAX3 p.Ala285Val Uncertain significance Single submitter
- PAX3 p.Ala411Val Uncertain significance Single submitter
-
PAX3 p.Ala5Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX3 p.Arg134Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX3 p.Arg156Leu Uncertain significance Single submitter
-
PAX3 p.Arg220Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX3 p.Arg220His Uncertain significance Single submitter
- PAX3 p.Arg220Ser Uncertain significance Single submitter
- PAX3 p.Arg22Ser Uncertain significance Single submitter
- PAX3 p.Arg240Thr Uncertain significance Single submitter
-
PAX3 p.Arg273Lys
Uncertain significance
Single submitter
Waardenburg syndrome type 1
- PAX3 p.Arg37His Uncertain significance Single submitter
- PAX3 p.Arg77Cys Uncertain significance Single submitter
- PAX3 p.Arg77Pro Uncertain significance Single submitter
- PAX3 p.Arg97Cys Uncertain significance Single submitter
- PAX3 p.Asn398Ser Uncertain significance Single submitter
- PAX3 p.Asp113Glu Uncertain significance Single submitter
- PAX3 p.Asp208Gly Uncertain significance Single submitter
- PAX3 p.Gln40Lys Uncertain significance Single submitter
- PAX3 p.Glu169Lys Uncertain significance Single submitter
- PAX3 p.Glu232Gln Uncertain significance Single submitter
-
PAX3 p.Glu235Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX3 p.Gly279Arg Uncertain significance Single submitter
- PAX3 p.Gly66Ser Uncertain significance Single submitter
- PAX3 p.Gly94Cys Uncertain significance Single submitter
-
PAX3 p.Ile191Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX3 p.Ile207Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX3 p.Ile72Asn
Uncertain significance
Single submitter
Waardenburg syndrome type 1
- PAX3 p.Ile72Thr Uncertain significance Single submitter
- PAX3 p.Ile96Thr Uncertain significance Single submitter
-
PAX3 p.Leu172Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX3 p.Leu433Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX3 p.Leu76Arg
Uncertain significance
Single submitter
Waardenburg syndrome type 1
- PAX3 p.Lys107Asn Uncertain significance Single submitter
-
PAX3 p.Lys136Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX3 p.Lys175Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX3 p.Lys183Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX3 p.Met460Val Uncertain significance Single submitter
- PAX3 p.Phe25Leu Uncertain significance Single submitter
-
PAX3 p.Pro106Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX3 p.Pro16Ser Uncertain significance Single submitter
- PAX3 p.Pro244His Uncertain significance Single submitter
-
PAX3 p.Pro406Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX3 p.Pro406Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX3 p.Pro414Ser
Uncertain significance
Single submitter
Waardenburg syndrome
-
PAX3 p.Pro98Leu
Uncertain significance
Single submitter
Waardenburg syndrome type 1
- PAX3 p.Ser308Leu Uncertain significance Single submitter
- PAX3 p.Ser413Thr Uncertain significance Single submitter
- PAX3 p.Ser79Ala Uncertain significance Single submitter
-
PAX3 p.Thr147Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX3 p.Thr225Ile Uncertain significance Single submitter
-
PAX3 p.Thr248Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX3 p.Thr31Pro Uncertain significance Single submitter
- PAX3 p.Thr397Pro Uncertain significance Single submitter
-
PAX3 p.Thr456Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX3 p.Tyr247Ser Uncertain significance Single submitter
-
PAX3 p.Tyr410Phe
Uncertain significance
Single submitter
Waardenburg syndrome
-
PAX3 p.Val151Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX3 p.Val44Ile
Uncertain significance
Single submitter
Neurodevelopmental abnormality
- PAX3 p.Val83Ala Uncertain significance Single submitter
- PAX3 p.Val8Leu Uncertain significance Single submitter
-
PAX3 p.Arg37Gly
Uncertain significance
No assertion criteria
Waardenburg syndrome type 1
-
PAX3 p.Gly99Cys
Uncertain significance
No assertion criteria
PAX3-related disorder
Predictors split 27
The independent predictors disagree with each other — read with care.
-
PAX3 p.Ala256Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PAX3 p.Gly418Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PAX3 p.His65Asn
Uncertain significance
Multiple submitters
Waardenburg syndrome type 3
- PAX3 p.Met128Val Uncertain significance Multiple submitters
-
PAX3 p.Phe162Leu
Uncertain significance
Multiple submitters
PAX3-related disorder
- PAX3 p.Cys449Tyr Uncertain significance Single submitter
-
PAX3 p.Gln18His
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX3 p.Gln467Lys Uncertain significance Single submitter
- PAX3 p.Gly292Ala Uncertain significance Single submitter
- PAX3 p.Gly394Glu Uncertain significance Single submitter
- PAX3 p.Gly6Arg Uncertain significance Single submitter
-
PAX3 p.His288Arg
Uncertain significance
Single submitter
PAX3-related disorder
- PAX3 p.Ile55Val Uncertain significance Single submitter
-
PAX3 p.Leu442Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PAX3 p.Lys58Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PAX3 p.Pro112Ser Uncertain significance Single submitter
- PAX3 p.Pro403Leu Uncertain significance Single submitter
- PAX3 p.Pro451His Uncertain significance Single submitter
-
PAX3 p.Ser413Phe
Uncertain significance
Single submitter
Waardenburg syndrome
-
PAX3 p.Ser459Arg
Conflicting
Single submitter
Inborn genetic diseases
-
PAX3 p.Thr304Met
Likely benign
Single submitter
Inborn genetic diseases
-
PAX3 p.Thr315Lys
Conflicting
Single submitter
Waardenburg syndrome
-
PAX3 p.Tyr121Phe
Likely benign
Single submitter
Inborn genetic diseases
- PAX3 p.Tyr20Cys Uncertain significance Single submitter
-
PAX3 p.Tyr312Asp
Uncertain significance
Single submitter
Waardenburg syndrome type 1
- PAX3 p.Val142Phe Uncertain significance Single submitter
-
PAX3 p.Val392Ala
Likely benign
Single submitter
Inborn genetic diseases
All PAX3 variants
Pathogenic 92
- c.793-1G>A Multiple submitters Waardenburg syndrome type 1
- p.Arg195Ter Multiple submitters
- p.Arg223Gln Multiple submitters Rare genetic deafness
- p.Arg223Ter Multiple submitters Monogenic hearing loss
- p.Arg262Ter Multiple submitters PAX3-related disorder
- p.Arg270Cys Multiple submitters Waardenburg syndrome type 1
- p.Arg271Cys Multiple submitters Waardenburg syndrome type 1
- p.Arg271His Multiple submitters PAX3-related disorder
- p.Gln319Ter Multiple submitters PAX3-related disorder
- p.Gly81Arg Multiple submitters Waardenburg syndrome type 1
- p.Pro50Leu Multiple submitters PAX3-related disorder
- p.Ser73Leu Multiple submitters Waardenburg syndrome
- p.Ser84Phe Multiple submitters Waardenburg syndrome type 1
- c.451+1G>A Single submitter
- c.451+1G>C Single submitter Waardenburg syndrome type 1
- c.586+2T>A Single submitter Waardenburg syndrome type 1
- c.792+1G>A Single submitter
- c.792+2T>A Single submitter Waardenburg syndrome type 1
- c.792+2T>C Single submitter craniofacial-deafness-hand syndrome
- c.793-1G>C Single submitter Waardenburg syndrome type 1
- c.83_85+12delinsTA Single submitter Waardenburg syndrome type 1
- c.*175C>T Single submitter Waardenburg syndrome type 1
- p.Ala177fs Single submitter Waardenburg syndrome type 1
- p.Arg195fs Single submitter Waardenburg syndrome type 1
- p.Arg22fs Single submitter Waardenburg syndrome type 1
- p.Arg236Ser Single submitter Waardenburg syndrome type 1
- p.Arg271Gly Single submitter
- p.Arg271Pro Single submitter Waardenburg syndrome type 1
- p.Arg89Thr Single submitter
- p.Asn125fs Single submitter Waardenburg syndrome type 1
- p.Asn39Lys Single submitter PAX3-related disorder
- p.Gln18Ter Single submitter
- p.Gln200fs Single submitter Waardenburg syndrome type 1
- p.Gln200Ter Single submitter
- p.Gln264fs Single submitter Waardenburg syndrome type 1
- p.Gln277Ter Single submitter Waardenburg syndrome type 3
- p.Gln313Ter Single submitter
- p.Gln35Ter Single submitter
- p.Gln405Ter Single submitter
- p.Gln40Ter Single submitter
- p.Gln91fs Single submitter
- p.Gln91Ter Single submitter Inborn genetic diseases
- p.Glu120Ter Single submitter Waardenburg syndrome type 1
- p.Glu167fs Single submitter
- p.Glu169fs Single submitter
- p.Glu235Ter Single submitter
- p.Glu239Ter Single submitter
- p.Glu250fs Single submitter Ocular albinism with congenital sensorineural hearing loss
- p.Glu309fs Single submitter Waardenburg syndrome type 1
- p.Gly165fs Single submitter
- p.Gly204_Ser205insTer Single submitter
- p.Gly418fs Single submitter Waardenburg syndrome type 1
- p.Gly42fs Single submitter Waardenburg syndrome type 1
- p.Gly48fs Single submitter Waardenburg syndrome type 1
- p.Gly99fs Single submitter
- p.His57fs Single submitter Waardenburg syndrome type 1
- p.His80fs Single submitter Waardenburg syndrome type 1
- p.Ile118fs Single submitter Waardenburg syndrome type 1
- p.Ile207fs Single submitter
- p.Leu87_Cys88insTer Single submitter Waardenburg syndrome type 1
- p.Lys116Ter Single submitter
- p.Lys164Ter Single submitter
- p.Lys85Asn Single submitter
- p.Met62Val Single submitter
- p.Pro14fs Single submitter
- p.Ser160fs Single submitter
- p.Ser197Ter Single submitter
- p.Ser23fs Single submitter
- p.Ser268fs Single submitter
- p.Ser73Ter Single submitter
- p.Ser79Cys Single submitter Waardenburg syndrome type 1
- p.Thr224Ile Single submitter Waardenburg syndrome type 1
- p.Trp266Ter Single submitter
- p.Trp274Ter Single submitter Waardenburg syndrome type 1
- p.Tyr243Ter Single submitter Waardenburg syndrome type 1
- p.Tyr312Ter Single submitter
- p.Tyr90Ser Single submitter
- p.Val114fs Single submitter Waardenburg syndrome type 1
- p.Val142fs Single submitter
- p.Arg97fs No assertion criteria Waardenburg syndrome type 1
- p.Asn47His No assertion criteria Waardenburg syndrome type 3
- p.Gly43Cys No assertion criteria Waardenburg syndrome type 1
- p.His186fs No assertion criteria Waardenburg syndrome type 1
- p.His80Asp No assertion criteria Waardenburg syndrome type 1
- p.Lys122fs No assertion criteria Waardenburg syndrome type 1
- p.Lys139Ter No assertion criteria Waardenburg syndrome type 1
- p.Met62_Ile67del No assertion criteria Waardenburg syndrome type 1
- p.Phe129fs No assertion criteria Waardenburg syndrome type 3
- p.Phe238Ser No assertion criteria Waardenburg syndrome type 1
- p.Tyr410Ter No assertion criteria Waardenburg syndrome type 1
- p.Tyr90fs No assertion criteria Waardenburg syndrome type 1
- p.Tyr90His No assertion criteria Waardenburg syndrome type 3
Pathogenic/Likely pathogenic 16
- c.322-2A>G Multiple submitters Monogenic hearing loss
- c.452-1G>A Multiple submitters craniofacial-deafness-hand syndrome
- c.86-2A>C Multiple submitters Waardenburg syndrome type 1
- c.86-2A>G Multiple submitters Waardenburg syndrome type 1
- p.Arg223Leu Multiple submitters PAX3-related disorder
- p.Arg56Leu Multiple submitters Waardenburg syndrome
- p.Cys70Ter Multiple submitters Waardenburg syndrome type 1
- p.Gly292fs Multiple submitters Waardenburg syndrome type 1
- p.Gly48Arg Multiple submitters Waardenburg syndrome type 1
- p.Gly81Ala Multiple submitters Monogenic hearing loss
- p.His80Tyr Multiple submitters Waardenburg syndrome type 1
- p.Ile46fs Multiple submitters Waardenburg syndrome type 1
- p.Phe294fs Multiple submitters PAX3-related disorder
- p.Ser426Ter Multiple submitters Waardenburg syndrome type 1
- p.Tyr90Ter Multiple submitters Waardenburg syndrome type 1
- p.Val78Met Multiple submitters Waardenburg syndrome type 1
Likely pathogenic 79
- p.Arg270His Multiple submitters Waardenburg syndrome type 1
- p.Arg68Trp Multiple submitters Waardenburg syndrome type 1
- p.Asn47Lys Multiple submitters Waardenburg syndrome type 1
- p.Cys82Ter Multiple submitters Waardenburg syndrome type 1
- p.Cys82Trp Multiple submitters Rare genetic deafness
- p.Gly42Arg Multiple submitters intellectual disability
- p.Gly42Ser Multiple submitters Monogenic hearing loss
- p.Gly48Cys Multiple submitters PAX3-related disorder
- p.Gly81Asp Multiple submitters Monogenic hearing loss
- p.Val60Met Multiple submitters PAX3-related disorder
- c.1174-2A>G Single submitter
- c.321+1G>A Single submitter Waardenburg syndrome type 1
- c.452-2A>C Single submitter Waardenburg syndrome type 1
- c.587-10416A>G Single submitter Waardenburg syndrome type 3
- c.85+1G>T Single submitter
- c.85+2dup Single submitter
- c.86-1G>A Single submitter PAX3-related disorder
- c.86-1G>C Single submitter Waardenburg syndrome type 1
- c.-84A>G Single submitter Waardenburg syndrome type 1
- p.Ala177_Glu178insTer Single submitter Waardenburg syndrome type 1
- p.Ala177Gly Single submitter ⚠
- p.Ala196Thr Single submitter ⚠
- p.Ala320fs Single submitter PAX3-related disorder
- p.Arg145Ter Single submitter Waardenburg syndrome type 1
- p.Arg56Cys Single submitter Waardenburg syndrome type 1
- p.Arg89Gly Single submitter Waardenburg syndrome type 3
- p.Arg97Pro Single submitter
- p.Asn39Ser Single submitter
- p.Asn47Asp Single submitter
- p.Gln108_Val109insTer Single submitter Waardenburg syndrome type 1
- p.Gln230Lys Single submitter Waardenburg syndrome type 1
- p.Gln264Pro Single submitter Waardenburg syndrome type 1
- p.Gln264Ter Single submitter Waardenburg syndrome type 1
- p.Glu119Asp Single submitter Waardenburg syndrome type 1
- p.Glu119Ter Single submitter PAX3-related disorder
- p.Glu176fs Single submitter Waardenburg syndrome type 1
- p.Gly43Ser Single submitter
- p.Gly48Val Single submitter
- p.Gly66Arg Single submitter Waardenburg syndrome type 1
- p.Gly94Val Single submitter Waardenburg syndrome type 1
- p.His54fs Single submitter PAX3-related disorder
- p.His80Arg Single submitter Waardenburg syndrome type 1
- p.His80Gln Single submitter Waardenburg syndrome type 1
- p.Ile72Phe Single submitter Waardenburg syndrome type 1
- p.Ile72Val Single submitter Waardenburg syndrome type 1
- p.Leu215fs Single submitter Waardenburg syndrome type 1
- p.Leu231Pro Single submitter Waardenburg syndrome type 1
- p.Leu252Pro Single submitter Waardenburg syndrome type 1
- p.Lys161fs Single submitter Waardenburg syndrome type 1
- p.Lys257fs Single submitter Waardenburg syndrome type 1
- p.Lys58del Single submitter Waardenburg syndrome type 1
- p.Lys85Glu Single submitter
- p.Met284fs Single submitter Waardenburg syndrome type 1
- p.Met62Thr Single submitter Waardenburg syndrome
- p.Pro50_Asn53del Single submitter Waardenburg syndrome type 1
- p.Pro50Thr Single submitter
- p.Ser150= Single submitter
- p.Ser155fs Single submitter Waardenburg syndrome type 1
- p.Ser201Ter Single submitter Waardenburg syndrome type 1
- p.Ser268Arg Single submitter Waardenburg syndrome type 1
- p.Ser308fs Single submitter Waardenburg syndrome type 1
- p.Ser426fs Single submitter PAX3-related disorder
- p.Ser459fs Single submitter Waardenburg syndrome type 1
- p.Ser73Trp Single submitter
- p.Trp266Ser Single submitter Waardenburg syndrome
- p.Trp274_Arg275del Single submitter Monogenic hearing loss
- p.Tyr121Ter Single submitter Autosomal dominant PAX3-related disorders
- p.Tyr243fs Single submitter Waardenburg syndrome type 1
- p.Tyr458fs Single submitter PAX3-related disorder
- p.Tyr90Cys Single submitter Waardenburg syndrome type 1
- p.Val263fs Single submitter Waardenburg syndrome type 1
- p.Val265Phe Single submitter
- p.Val60Leu Single submitter alveolar rhabdomyosarcoma
- p.Val78Glu Single submitter
- p.Val78Leu Single submitter Waardenburg syndrome type 1
- c.321+2T>C No assertion criteria Waardenburg syndrome type 1
- p.Ala272fs No assertion criteria PAX3-related disorder
- p.Arg270Pro No assertion criteria Waardenburg syndrome type 1
- p.Ile86Phe No assertion criteria Waardenburg syndrome type 1
Conflicting classifications of pathogenicity 16
- c.452-9C>A Single submitter Waardenburg syndrome type 1
- c.958+5C>T Single submitter
- p.Asp135Gly Single submitter Inborn genetic diseases ⚠
- p.Asp189= Single submitter Waardenburg syndrome
- p.Gln264His Single submitter Waardenburg syndrome type 1 ⚠
- p.Glu194Lys Single submitter Waardenburg syndrome
- p.Gly81Cys Single submitter Waardenburg syndrome type 1 ⚠
- p.Ile191Thr Single submitter ⚠
- p.Lys183del Single submitter
- p.Pro373Leu Single submitter craniofacial-deafness-hand syndrome ⚠
- p.Ser180Arg Single submitter Inborn genetic diseases ⚠
- p.Ser459Arg Single submitter Inborn genetic diseases ⚠
- p.Thr315Lys Single submitter Waardenburg syndrome ⚠
- p.Thr327= Single submitter Waardenburg syndrome
- p.Thr343= Single submitter craniofacial-deafness-hand syndrome
- p.Thr416= Single submitter craniofacial-deafness-hand syndrome
Benign 25
- c.1174-10G>C Multiple submitters Waardenburg syndrome
- c.1420+112dup Multiple submitters
- c.1420+55C>T Multiple submitters Waardenburg syndrome
- c.1421-76C>T Multiple submitters
- c.321+73T>C Multiple submitters
- c.321+91G>T Multiple submitters
- c.452-99G>T Multiple submitters
- c.586+233del Multiple submitters
- c.792+88C>G Multiple submitters
- c.86-92A>C Multiple submitters
- c.*257G>C Multiple submitters
- p.Gly43= Multiple submitters Waardenburg syndrome
- p.Pro52= Multiple submitters Waardenburg syndrome
- c.1420+104G>A Single submitter Waardenburg syndrome
- c.1420+186G>A Single submitter Waardenburg syndrome
- c.1420+220C>T Single submitter Waardenburg syndrome
- c.451+129C>A Single submitter
- c.452-235C>A Single submitter
- c.586+729del Single submitter
- c.586+86A>C Single submitter
- c.587-251A>G Single submitter
- c.-205C>T Single submitter Waardenburg syndrome
- c.-359G>T Single submitter Waardenburg syndrome
- c.*109dup Single submitter
- c.*354GT[11] Single submitter
Benign/Likely benign 8
- c.321+10C>A Multiple submitters Waardenburg syndrome
- c.586+52C>A Multiple submitters
- c.586+57A>G Multiple submitters
- p.Asn269= Multiple submitters craniofacial-deafness-hand syndrome
- p.Gly293= Multiple submitters Waardenburg syndrome
- p.Gly42= Multiple submitters craniofacial-deafness-hand syndrome
- p.Lys175Asn Multiple submitters Waardenburg syndrome
- p.Pro291= Multiple submitters Waardenburg syndrome
Likely benign 83
- c.1420+126del Multiple submitters
- c.1421-17C>T Multiple submitters
- c.321+8G>A Multiple submitters
- c.322-117G>A Multiple submitters
- c.322-20G>T Multiple submitters
- c.322-29C>T Multiple submitters
- c.86-99G>T Multiple submitters
- p.Glu178= Multiple submitters
- p.His399Asp Multiple submitters Waardenburg syndrome type 1
- p.Ile483= Multiple submitters
- p.Pro50= Multiple submitters
- p.Ser153= Multiple submitters
- p.Ser209= Multiple submitters
- p.Ser308= Multiple submitters
- p.Thr241Ser Multiple submitters
- p.Thr3= Multiple submitters
- c.1174-10G>A Single submitter
- c.1174-18A>G Single submitter
- c.1174-287G>A Single submitter
- c.1174-3dup Single submitter
- c.1420+14T>A Single submitter
- c.321+11G>T Single submitter
- c.321+20C>G Single submitter
- c.321+258A>G Single submitter
- c.322-18C>T Single submitter
- c.322-274T>A Single submitter
- c.451+211C>A Single submitter
- c.451+25C>G Single submitter
- c.451+89C>T Single submitter
- c.452-8G>C Single submitter
- c.586+332G>A Single submitter
- c.586+448AG[8] Single submitter
- c.586+638C>A Single submitter
- c.586+745A>T Single submitter
- c.586+96G>C Single submitter
- c.587-8G>A Single submitter
- c.587-9T>C Single submitter
- c.792+6G>A Single submitter
- c.793-16T>G Single submitter
- c.793-20A>T Single submitter
- c.85+18C>G Single submitter
- c.86-31T>A Single submitter
- c.86-342G>A Single submitter
- c.86-6C>G Single submitter
- c.*108_*109dup Single submitter
- c.*191C>G Single submitter
- c.*257G>T Single submitter
- p.Ala170= Single submitter
- p.Ala170Thr Single submitter
- p.Ala196= Single submitter
- p.Asp135= Single submitter
- p.Cys143= Single submitter
- p.Gln446= Single submitter
- p.Glu176= Single submitter
- p.Gly15= Single submitter
- p.Gly190= Single submitter
- p.Gly24Val Single submitter
- p.His399= Single submitter
- p.Leu252= Single submitter
- p.Leu33= Single submitter
- p.Lys185= Single submitter
- p.Pro126= Single submitter
- p.Pro16= Single submitter
- p.Pro21= Single submitter
- p.Pro214= Single submitter
- p.Pro300= Single submitter
- p.Pro314= Single submitter
- p.Pro462= Single submitter
- p.Ser193Arg Single submitter
- p.Ser222= Single submitter
- p.Ser23= Single submitter
- p.Ser79= Single submitter
- p.Thr241= Single submitter
- p.Thr304Met Single submitter Inborn genetic diseases ⚠
- p.Thr424Met Single submitter
- p.Tyr121Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr410= Single submitter
- p.Val392Ala Single submitter Inborn genetic diseases ⚠
- c.586+29T>C No assertion criteria PAX3-related disorder
- c.586+407C>T No assertion criteria PAX3-related disorder
- c.*239C>A No assertion criteria PAX3-related disorder
- p.Ala256= No assertion criteria PAX3-related disorder
- p.Val148= No assertion criteria PAX3-related disorder
Uncertain significance 146
- c.586+5G>T Multiple submitters
- p.Ala228Val Multiple submitters craniofacial-deafness-hand syndrome ⚠
- p.Ala256Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala411Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala7Ser Multiple submitters ⚠
- p.Arg156Pro Multiple submitters Waardenburg syndrome type 3 ⚠
- p.Arg236His Multiple submitters Waardenburg syndrome type 1 ⚠
- p.Cys70Tyr Multiple submitters ⚠
- p.Glu309Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly127Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly292Arg Multiple submitters ⚠
- p.Gly34Cys Multiple submitters ⚠
- p.Gly418Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly48Ser Multiple submitters ⚠
- p.His65Asn Multiple submitters Waardenburg syndrome type 3 ⚠
- p.Ile188Met Multiple submitters Inborn genetic diseases ⚠
- p.Lys122Glu Multiple submitters ⚠
- p.Lys183Gln Multiple submitters Inborn genetic diseases ⚠
- p.Met128Val Multiple submitters ⚠
- p.Met62Lys Multiple submitters PAX3-related disorder ⚠
- p.Phe162Leu Multiple submitters PAX3-related disorder ⚠
- p.Pro16Leu Multiple submitters Waardenburg syndrome ⚠
- p.Pro244Ser Multiple submitters Waardenburg syndrome type 1 ⚠
- p.Pro291Ser Multiple submitters ⚠
- p.Pro450Ala Multiple submitters ⚠
- p.Ser150Pro Multiple submitters ⚠
- p.Ser187Arg Multiple submitters Inborn genetic diseases ⚠
- p.Thr338Ser Multiple submitters Waardenburg syndrome ⚠
- p.Val402Ile Multiple submitters Waardenburg syndrome ⚠
- p.Val402Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val60Glu Multiple submitters ⚠
- c.1174-3del Single submitter
- c.1174-5T>A Single submitter
- c.1420+103C>T Single submitter Waardenburg syndrome
- c.1420+11G>A Single submitter
- c.1420+125T>G Single submitter Waardenburg syndrome
- c.1420+165G>T Single submitter Waardenburg syndrome
- c.1420+201C>T Single submitter Waardenburg syndrome
- c.321+3G>A Single submitter
- c.321+6C>A Single submitter
- c.586+427G>T Single submitter
- c.587-10G>C Single submitter
- c.793-4A>G Single submitter PAX3-related disorder
- c.793-4A>T Single submitter
- c.85+5G>A Single submitter
- c.86-3_86-2del Single submitter
- c.958+6G>A Single submitter
- c.-156C>T Single submitter Waardenburg syndrome
- c.-248A>C Single submitter Waardenburg syndrome
- c.*196G>A Single submitter Inborn genetic diseases
- c.*224T>A Single submitter Inborn genetic diseases
- p.Ala170_Asp171insGlu Single submitter
- p.Ala170Asp Single submitter Waardenburg syndrome type 1 ⚠
- p.Ala237Pro Single submitter craniofacial-deafness-hand syndrome ⚠
- p.Ala285Val Single submitter ⚠
- p.Ala411Val Single submitter ⚠
- p.Ala5Thr Single submitter Inborn genetic diseases ⚠
- p.Arg134Gln Single submitter Inborn genetic diseases ⚠
- p.Arg156Leu Single submitter ⚠
- p.Arg220Cys Single submitter Inborn genetic diseases ⚠
- p.Arg220His Single submitter ⚠
- p.Arg220Ser Single submitter ⚠
- p.Arg22Ser Single submitter ⚠
- p.Arg240Thr Single submitter ⚠
- p.Arg273Lys Single submitter Waardenburg syndrome type 1 ⚠
- p.Arg37His Single submitter ⚠
- p.Arg77Cys Single submitter ⚠
- p.Arg77Pro Single submitter ⚠
- p.Arg97Cys Single submitter ⚠
- p.Asn398Ser Single submitter ⚠
- p.Asp113Glu Single submitter ⚠
- p.Asp189Asn Single submitter Inborn genetic diseases
- p.Asp208Gly Single submitter ⚠
- p.Cys449Tyr Single submitter ⚠
- p.Gln18His Single submitter Inborn genetic diseases ⚠
- p.Gln40Lys Single submitter ⚠
- p.Gln431Ter Single submitter
- p.Gln467Lys Single submitter ⚠
- p.Glu169Lys Single submitter ⚠
- p.Glu232Gln Single submitter ⚠
- p.Glu235Gln Single submitter Inborn genetic diseases ⚠
- p.Gly279Arg Single submitter ⚠
- p.Gly292Ala Single submitter ⚠
- p.Gly394Glu Single submitter ⚠
- p.Gly48= Single submitter Waardenburg syndrome
- p.Gly66Ser Single submitter ⚠
- p.Gly6Arg Single submitter ⚠
- p.Gly94Cys Single submitter ⚠
- p.His288Arg Single submitter PAX3-related disorder ⚠
- p.Ile191Phe Single submitter Inborn genetic diseases ⚠
- p.Ile207Thr Single submitter Inborn genetic diseases ⚠
- p.Ile55Val Single submitter ⚠
- p.Ile72Asn Single submitter Waardenburg syndrome type 1 ⚠
- p.Ile72Thr Single submitter ⚠
- p.Ile96Thr Single submitter ⚠
- p.Leu172Ser Single submitter Inborn genetic diseases ⚠
- p.Leu258His Single submitter
- p.Leu415fs Single submitter
- p.Leu433Pro Single submitter Inborn genetic diseases ⚠
- p.Leu442Arg Single submitter Inborn genetic diseases ⚠
- p.Leu76Arg Single submitter Waardenburg syndrome type 1 ⚠
- p.Lys107Asn Single submitter ⚠
- p.Lys136Glu Single submitter Inborn genetic diseases ⚠
- p.Lys175Thr Single submitter Inborn genetic diseases ⚠
- p.Lys183Arg Single submitter Inborn genetic diseases ⚠
- p.Lys58Arg Single submitter Inborn genetic diseases ⚠
- p.Met460Val Single submitter ⚠
- p.Phe25Leu Single submitter ⚠
- p.Pro106Leu Single submitter Inborn genetic diseases ⚠
- p.Pro112Ser Single submitter ⚠
- p.Pro16Ser Single submitter ⚠
- p.Pro244His Single submitter ⚠
- p.Pro26Leu Single submitter
- p.Pro403Leu Single submitter ⚠
- p.Pro406Leu Single submitter Inborn genetic diseases ⚠
- p.Pro406Thr Single submitter Inborn genetic diseases ⚠
- p.Pro414Ser Single submitter Waardenburg syndrome ⚠
- p.Pro451His Single submitter ⚠
- p.Pro98Leu Single submitter Waardenburg syndrome type 1 ⚠
- p.Ser308Leu Single submitter ⚠
- p.Ser413Phe Single submitter Waardenburg syndrome ⚠
- p.Ser413Thr Single submitter ⚠
- p.Ser79Ala Single submitter ⚠
- p.Thr147Ile Single submitter Inborn genetic diseases ⚠
- p.Thr225Ile Single submitter ⚠
- p.Thr248Ile Single submitter Inborn genetic diseases ⚠
- p.Thr31Pro Single submitter ⚠
- p.Thr397Pro Single submitter ⚠
- p.Thr424_Val425insThr Single submitter
- p.Thr456Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr20Cys Single submitter ⚠
- p.Tyr247Ser Single submitter ⚠
- p.Tyr312Asp Single submitter Waardenburg syndrome type 1 ⚠
- p.Tyr410Phe Single submitter Waardenburg syndrome ⚠
- p.Tyr448fs Single submitter
- p.Val114= Single submitter Waardenburg syndrome
- p.Val142Phe Single submitter ⚠
- p.Val151Glu Single submitter Inborn genetic diseases ⚠
- p.Val44Ile Single submitter Neurodevelopmental abnormality ⚠
- p.Val83Ala Single submitter ⚠
- p.Val8Leu Single submitter ⚠
- c.*3G>C No assertion criteria Waardenburg syndrome type 1
- p.Arg37Gly No assertion criteria Waardenburg syndrome type 1 ⚠
- p.Glu420Ter No assertion criteria Waardenburg syndrome type 1
- p.Gly43Asp No assertion criteria PAX3-related disorder
- p.Gly99Cys No assertion criteria PAX3-related disorder ⚠