SOX10 — 569 ClinVar variants
All ClinVar germline SOX10 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 173 flagged for review →
128 Pathogenic · 11 Pathogenic/Likely pathogenic · 77 Likely pathogenic · 41 Conflicting · 17 Benign · 13 Benign/Likely benign · 109 Likely benign · 173 Uncertain significance
Full SOX10 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 173
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors agree, ClinVar conflicts 29
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
SOX10 p.Ala115Thr
Conflicting
Single submitter
Waardenburg syndrome type 4C
- SOX10 p.Ala201Thr Conflicting Single submitter
-
SOX10 p.Ala361Thr
Conflicting
Single submitter
Waardenburg syndrome type 4C
- SOX10 p.Ala418Thr Conflicting Single submitter
-
SOX10 p.Ala44Gly
Conflicting
Single submitter
Waardenburg syndrome
-
SOX10 p.Arg159Gln
Conflicting
Single submitter
Waardenburg syndrome type 4C
-
SOX10 p.Arg161His
Conflicting
Single submitter
Waardenburg syndrome type 2E
-
SOX10 p.Arg215Gln
Conflicting
Single submitter
PCWH syndrome
- SOX10 p.Arg261His Conflicting Single submitter
- SOX10 p.Asp60Asn Conflicting Single submitter
- SOX10 p.Asp64Ala Conflicting Single submitter
- SOX10 p.Glu359Asp Conflicting Single submitter
-
SOX10 p.Gly139Cys
Conflicting
Single submitter
Waardenburg syndrome type 2E
- SOX10 p.Gly192Ser Conflicting Single submitter
-
SOX10 p.Gly365Arg
Conflicting
Single submitter
Waardenburg syndrome type 2E
- SOX10 p.His414Pro Conflicting Single submitter
-
SOX10 p.Met108Thr
Conflicting
Single submitter
Waardenburg syndrome type 2E
-
SOX10 p.Met108Val
Conflicting
Single submitter
Waardenburg syndrome type 4C
-
SOX10 p.Met112Thr
Conflicting
Single submitter
SOX10-related disorder
-
SOX10 p.Met112Val
Conflicting
Single submitter
PCWH syndrome
-
SOX10 p.Pro169Leu
Conflicting
Single submitter
SOX10-related disorder
- SOX10 p.Ser311Asn Conflicting Single submitter
- SOX10 p.Thr344Met Conflicting Single submitter
- SOX10 p.Thr370Ile Conflicting Single submitter
-
SOX10 p.Val113Met
Conflicting
Single submitter
SOX10-related disorder
- SOX10 p.Val276Met Conflicting Single submitter
- SOX10 p.Val340Met Conflicting Single submitter
-
SOX10 p.Val92Leu
Conflicting
Single submitter
Waardenburg syndrome
-
SOX10 p.Val92Met
Conflicting
Single submitter
Waardenburg syndrome type 2E
Predictors lean, ClinVar uncertain 108
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- SOX10 p.Ala110Val Uncertain significance Multiple submitters
-
SOX10 p.Ala132Pro
Uncertain significance
Multiple submitters
Waardenburg syndrome type 4C
- SOX10 p.Ala28Val Uncertain significance Multiple submitters
- SOX10 p.Arg119His Uncertain significance Multiple submitters
-
SOX10 p.Arg21Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SOX10 p.Asp371Asn
Uncertain significance
Multiple submitters
Waardenburg syndrome
- SOX10 p.Asp64Val Uncertain significance Multiple submitters
-
SOX10 p.Gly16Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SOX10 p.Gly389Ser
Uncertain significance
Multiple submitters
PCWH syndrome
-
SOX10 p.Gly38Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
SOX10 p.Gly61Ser
Uncertain significance
Multiple submitters
PCWH syndrome
- SOX10 p.His216Gln Uncertain significance Multiple submitters
- SOX10 p.Met263Ile Uncertain significance Multiple submitters
- SOX10 p.Pro29Thr Uncertain significance Multiple submitters
-
SOX10 p.Ser224Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SOX10 p.Ser251Leu Uncertain significance Multiple submitters
-
SOX10 p.Ser415Leu
Uncertain significance
Multiple submitters
Waardenburg syndrome
- SOX10 p.Ser98Arg Uncertain significance Multiple submitters
-
SOX10 p.Thr240Pro
Uncertain significance
Multiple submitters
Waardenburg syndrome type 4C
-
SOX10 p.Val326Met
Uncertain significance
Multiple submitters
Waardenburg syndrome
- SOX10 p.Ala110Thr Uncertain significance Single submitter
-
SOX10 p.Ala115Val
Uncertain significance
Single submitter
Waardenburg syndrome type 4C
- SOX10 p.Ala123Glu Uncertain significance Single submitter
- SOX10 p.Ala123Pro Uncertain significance Single submitter
- SOX10 p.Ala123Val Uncertain significance Single submitter
- SOX10 p.Ala132Val Uncertain significance Single submitter
-
SOX10 p.Ala210Thr
Uncertain significance
Single submitter
Waardenburg syndrome
- SOX10 p.Ala254Val Uncertain significance Single submitter
- SOX10 p.Ala379Ser Uncertain significance Single submitter
- SOX10 p.Arg106Trp Uncertain significance Single submitter
- SOX10 p.Arg119Leu Uncertain significance Single submitter
-
SOX10 p.Arg119Ser
Uncertain significance
Single submitter
Waardenburg syndrome type 4C
- SOX10 p.Arg151His Uncertain significance Single submitter
- SOX10 p.Arg177Gln Uncertain significance Single submitter
-
SOX10 p.Arg178Trp
Uncertain significance
Single submitter
Kallmann syndrome
- SOX10 p.Arg261Ser Uncertain significance Single submitter
- SOX10 p.Arg397His Uncertain significance Single submitter
- SOX10 p.Arg73Cys Uncertain significance Single submitter
- SOX10 p.Asn288Ser Uncertain significance Single submitter
- SOX10 p.Asp167Gly Uncertain significance Single submitter
- SOX10 p.Asp167Val Uncertain significance Single submitter
- SOX10 p.Asp272Tyr Uncertain significance Single submitter
- SOX10 p.Asp34Asn Uncertain significance Single submitter
- SOX10 p.Asp34Gly Uncertain significance Single submitter
- SOX10 p.Asp60Glu Uncertain significance Single submitter
- SOX10 p.Asp66Glu Uncertain significance Single submitter
-
SOX10 p.Cys190Trp
Uncertain significance
Single submitter
Waardenburg syndrome type 2E
- SOX10 p.Gln197Pro Uncertain significance Single submitter
- SOX10 p.Gln372Glu Uncertain significance Single submitter
- SOX10 p.Gln78Pro Uncertain significance Single submitter
- SOX10 p.Glu147Lys Uncertain significance Single submitter
- SOX10 p.Glu187Gln Uncertain significance Single submitter
- SOX10 p.Glu50Lys Uncertain significance Single submitter
-
SOX10 p.Glu74Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.Gly139Asp Uncertain significance Single submitter
- SOX10 p.Gly237Ser Uncertain significance Single submitter
- SOX10 p.Gly274Ser Uncertain significance Single submitter
- SOX10 p.Gly308Ser Uncertain significance Single submitter
- SOX10 p.Gly365Glu Uncertain significance Single submitter
- SOX10 p.Gly36Ser Uncertain significance Single submitter
- SOX10 p.Gly41Asp Uncertain significance Single submitter
- SOX10 p.Gly47Val Uncertain significance Single submitter
- SOX10 p.Gly96Arg Uncertain significance Single submitter
-
SOX10 p.His130Arg
Uncertain significance
Single submitter
Waardenburg syndrome type 2E
- SOX10 p.His164Tyr Uncertain significance Single submitter
-
SOX10 p.His211Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.His309Tyr Uncertain significance Single submitter
- SOX10 p.Ile334Leu Uncertain significance Single submitter
-
SOX10 p.Leu129Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.Leu12Val Uncertain significance Single submitter
-
SOX10 p.Leu144Pro
Uncertain significance
Single submitter
SOX10-related disorder
- SOX10 p.Leu249Val Uncertain significance Single submitter
- SOX10 p.Lys105Gln Uncertain significance Single submitter
-
SOX10 p.Lys105Glu
Uncertain significance
Single submitter
Waardenburg syndrome type 2E
- SOX10 p.Lys166Glu Uncertain significance Single submitter
- SOX10 p.Lys179Asn Uncertain significance Single submitter
-
SOX10 p.Met263Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.Met263Val Uncertain significance Single submitter
- SOX10 p.Phe153Ile Uncertain significance Single submitter
- SOX10 p.Phe153Leu Uncertain significance Single submitter
-
SOX10 p.Phe68Leu
Uncertain significance
Single submitter
Waardenburg syndrome
- SOX10 p.Pro107Ser Uncertain significance Single submitter
- SOX10 p.Pro127Ala Uncertain significance Single submitter
- SOX10 p.Pro127Leu Uncertain significance Single submitter
- SOX10 p.Pro14Ala Uncertain significance Single submitter
- SOX10 p.Pro256Leu Uncertain significance Single submitter
- SOX10 p.Pro25Arg Uncertain significance Single submitter
-
SOX10 p.Pro337Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.Pro343Thr Uncertain significance Single submitter
- SOX10 p.Pro398Leu Uncertain significance Single submitter
-
SOX10 p.Pro407Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.Pro430Ser Uncertain significance Single submitter
- SOX10 p.Pro444Arg Uncertain significance Single submitter
-
SOX10 p.Pro46Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.Pro69Ser Uncertain significance Single submitter
-
SOX10 p.Pro91Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
SOX10 p.Ser311Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.Ser328Gly Uncertain significance Single submitter
-
SOX10 p.Thr453Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.Thr453Pro Uncertain significance Single submitter
- SOX10 p.Trp142Leu Uncertain significance Single submitter
-
SOX10 p.Tyr173Cys
Uncertain significance
Single submitter
Waardenburg syndrome type 4C
- SOX10 p.Val10Met Uncertain significance Single submitter
- SOX10 p.Val15Met Uncertain significance Single submitter
- SOX10 p.Val326Leu Uncertain significance Single submitter
-
SOX10 p.Arg178Gln
Uncertain significance
No assertion criteria
SOX10-related disorder
-
SOX10 p.Gln5Glu
Uncertain significance
No assertion criteria
SOX10-related disorder
-
SOX10 p.Tyr171Phe
Uncertain significance
No assertion criteria
SOX10-related disorder
Predictors split 36
The independent predictors disagree with each other — read with care.
-
SOX10 p.Arg258Gln
Uncertain significance
Multiple submitters
SOX10-related disorder
- SOX10 p.Arg433Gln Uncertain significance Multiple submitters
-
SOX10 p.Cys71Gly
Uncertain significance
Multiple submitters
Waardenburg syndrome type 2E
- SOX10 p.Gly260Arg Uncertain significance Multiple submitters
-
SOX10 p.Gly266Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
- SOX10 p.Lys208Glu Uncertain significance Multiple submitters
- SOX10 p.Ser24Tyr Uncertain significance Multiple submitters
- SOX10 p.Ser431Leu Uncertain significance Multiple submitters
-
SOX10 p.Ala332Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
SOX10 p.Arg397Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
SOX10 p.Arg433Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.Arg465Gln Uncertain significance Single submitter
-
SOX10 p.Asn131Lys
Pathogenic
Single submitter
Waardenburg syndrome type 4C
- SOX10 p.Asp124Glu Uncertain significance Single submitter
- SOX10 p.Asp272Asn Uncertain significance Single submitter
-
SOX10 p.Asp371Tyr
Uncertain significance
Single submitter
Waardenburg syndrome
-
SOX10 p.Asp404His
Uncertain significance
Single submitter
Inborn genetic diseases
-
SOX10 p.Asp84Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.Gln406Lys Uncertain significance Single submitter
- SOX10 p.Glu155Lys Uncertain significance Single submitter
- SOX10 p.Glu57Lys Conflicting Single submitter
- SOX10 p.Gly181Arg Uncertain significance Single submitter
-
SOX10 p.Gly260Ala
Uncertain significance
Single submitter
Beckwith-Wiedemann syndrome
- SOX10 p.His387Gln Conflicting Single submitter
- SOX10 p.Leu212Ser Uncertain significance Single submitter
-
SOX10 p.Leu324Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.Lys253Asn Uncertain significance Single submitter
-
SOX10 p.Lys99Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- SOX10 p.Met428Ile Conflicting Single submitter
-
SOX10 p.Phe400Cys
Uncertain significance
Single submitter
PCWH syndrome
-
SOX10 p.Pro238Leu
Uncertain significance
Single submitter
hypogonadotropic hypogonadism
- SOX10 p.Pro245Leu Uncertain significance Single submitter
- SOX10 p.Pro452Leu Uncertain significance Single submitter
- SOX10 p.Ser312Cys Uncertain significance Single submitter
- SOX10 p.Tyr411Cys Likely benign Single submitter
- SOX10 p.Val294Met Uncertain significance Single submitter
All SOX10 variants
Pathogenic 128
- p.Ala157Val Multiple submitters Waardenburg syndrome type 4C
- p.Arg43Ter Multiple submitters Waardenburg syndrome type 4C
- p.Gln377Ter Multiple submitters Waardenburg syndrome type 4C
- p.Gln399Ter Multiple submitters Waardenburg syndrome type 2E
- p.Gln78Ter Multiple submitters PCWH syndrome
- p.Glu74Ter Multiple submitters Waardenburg syndrome type 4C
- p.Lys166fs Multiple submitters Waardenburg syndrome type 4C
- p.Ser30Ter Multiple submitters Waardenburg syndrome type 4C
- c.428+1G>A Single submitter Waardenburg syndrome type 2E
- c.429-1G>A Single submitter Waardenburg syndrome type 4A
- c.429-2A>C Single submitter Waardenburg syndrome type 4C
- c.(?_698 Single submitter Rare genetic deafness
- p.Ala132Gly Single submitter PCWH syndrome
- p.Ala202fs Single submitter
- p.Ala323fs Single submitter PCWH syndrome
- p.Arg119Cys Single submitter
- p.Arg119Gly Single submitter
- p.Arg177fs Single submitter Waardenburg syndrome type 2E
- p.Arg178fs Single submitter Waardenburg syndrome type 4C
- p.Asn109Ser Single submitter Waardenburg syndrome type 2E
- p.Asn131Lys Single submitter Waardenburg syndrome type 4C ⚠
- p.Asn95fs Single submitter Waardenburg syndrome type 4C
- p.Asp259fs Single submitter Waardenburg syndrome type 2E
- p.Asp351fs Single submitter Inborn genetic diseases
- p.Asp401_Tyr402insTer Single submitter Waardenburg syndrome type 4C
- p.Cys190Ter Single submitter Waardenburg syndrome type 4C
- p.Gln125Ter Single submitter
- p.Gln163fs Single submitter
- p.Gln163Ter Single submitter Waardenburg syndrome type 2E
- p.Gln174Ter Single submitter Waardenburg syndrome type 2E
- p.Gln204fs Single submitter Waardenburg syndrome type 4C
- p.Gln355Ter Single submitter Waardenburg syndrome type 2E
- p.Gln364fs Single submitter
- p.Gln372Ter Single submitter PCWH syndrome
- p.Gln448fs Single submitter Waardenburg syndrome type 4C
- p.Gln457fs Single submitter Waardenburg syndrome type 4C
- p.Gln5Ter Single submitter Waardenburg syndrome type 2E
- p.Gln78fs Single submitter
- p.Glu133Ter Single submitter Waardenburg syndrome type 4C
- p.Glu155Ter Single submitter Waardenburg syndrome type 2E
- p.Glu189Ter Single submitter Waardenburg syndrome type 4C
- p.Glu19Ter Single submitter Waardenburg syndrome type 4C
- p.Glu229fs Single submitter PCWH syndrome
- p.Glu265fs Single submitter Waardenburg syndrome type 4C
- p.Glu265Ter Single submitter Waardenburg syndrome type 4C
- p.Glu359fs Single submitter Waardenburg syndrome type 4C
- p.Glu3Ter Single submitter Waardenburg syndrome type 2E
- p.Gly139Ser Single submitter
- p.Gly317fs Single submitter
- p.His128fs Single submitter Deafness with anatomical inner ear anomalies
- p.His168fs Single submitter Waardenburg syndrome type 2E
- p.His206fs Single submitter
- p.His387fs Single submitter Waardenburg syndrome type 4C
- p.His405fs Single submitter Waardenburg syndrome type 4C
- p.Leu138fs Single submitter Waardenburg syndrome type 4C
- p.Leu160Pro Single submitter Waardenburg syndrome type 4C
- p.Leu42fs Single submitter Kallmann syndrome
- p.Lys136fs Single submitter Waardenburg syndrome type 4C
- p.Lys150Glu Single submitter Waardenburg syndrome type 4C
- p.Lys150Ter Single submitter Waardenburg syndrome type 2E
- p.Lys172Ter Single submitter
- p.Lys268Ter Single submitter Waardenburg syndrome type 4C
- p.Lys67fs Single submitter Waardenburg syndrome type 2E
- p.Met112fs Single submitter Waardenburg syndrome type 4C
- p.Met223fs Single submitter
- p.Met286fs Single submitter
- p.Phe111fs Single submitter Waardenburg syndrome type 2E
- p.Phe392fs Single submitter
- p.Phe425fs Single submitter
- p.Pro107_Met108insTer Single submitter Waardenburg syndrome type 4C
- p.Pro169Arg Single submitter Waardenburg syndrome type 4C
- p.Pro222fs Single submitter Waardenburg syndrome type 4C
- p.Pro245fs Single submitter Waardenburg syndrome type 4C
- p.Pro302fs Single submitter
- p.Ser224Ter Single submitter PCWH syndrome
- p.Ser24fs Single submitter Waardenburg syndrome type 4C
- p.Ser251Ter Single submitter PCWH syndrome
- p.Ser262fs Single submitter Waardenburg syndrome type 4C
- p.Ser27fs Single submitter Waardenburg syndrome type 4C
- p.Ser314Ter Single submitter PCWH syndrome
- p.Ser403fs Single submitter Waardenburg syndrome type 4C
- p.Ser40Ter Single submitter Waardenburg syndrome type 2E
- p.Ser77fs Single submitter Waardenburg syndrome type 4C
- p.Thr137fs Single submitter Waardenburg syndrome type 4C
- p.Thr240fs Single submitter Waardenburg syndrome type 4C
- p.Thr437fs Single submitter Waardenburg syndrome type 4C
- p.Trp114Ter Single submitter Waardenburg syndrome type 2E
- p.Trp142fs Single submitter Waardenburg syndrome type 4C
- p.Trp142Ter Single submitter
- p.Trp333Ter Single submitter
- p.Trp85Ter Single submitter
- p.Tyr126Ter Single submitter Waardenburg syndrome type 4C
- p.Tyr171Ter Single submitter Waardenburg syndrome type 4C
- p.Tyr173Ter Single submitter Waardenburg syndrome type 4C
- p.Tyr313Ter Single submitter PCWH syndrome
- p.Tyr402Ter Single submitter Waardenburg syndrome type 4C
- p.Val10fs Single submitter
- p.Val15fs Single submitter
- p.Val345fs Single submitter Inborn genetic diseases
- p.Val70fs Single submitter Waardenburg syndrome type 4C
- p.Val94fs Single submitter Waardenburg syndrome type 4C
- c.219_428+43del No assertion criteria Waardenburg syndrome type 2E, without neurologic involvement
- c.429-1112_697+396del No assertion criteria Waardenburg syndrome type 2E, without neurologic involvement
- c.698-2A>C No assertion criteria Waardenburg syndrome type 2E, with neurologic involvement
- c.698-740_1085delinsCCT No assertion criteria Waardenburg syndrome type 4C
- p.Ala123fs No assertion criteria Waardenburg syndrome type 1
- p.Arg161_Met162insLeuLeu No assertion criteria Waardenburg syndrome type 4C
- p.Cys71fs No assertion criteria PCWH syndrome
- p.Gln174Pro No assertion criteria Waardenburg syndrome type 2E, with neurologic involvement
- p.Gln185Ter No assertion criteria Waardenburg syndrome type 2E
- p.Gln250Ter No assertion criteria PCWH syndrome
- p.Glu248fs No assertion criteria Waardenburg syndrome type 2E, without neurologic involvement
- p.Glu280fs No assertion criteria PCWH syndrome
- p.Gly38fs No assertion criteria Waardenburg syndrome type 2E, without neurologic involvement
- p.His306fs No assertion criteria PCWH syndrome
- p.Ile439_Ser443del No assertion criteria Waardenburg syndrome type 4A
- p.Met112Ile No assertion criteria Waardenburg syndrome type 1
- p.Met1Arg No assertion criteria Waardenburg syndrome type 2E, without neurologic involvement
- p.Met90fs No assertion criteria Waardenburg syndrome type 1
- p.Pro169fs No assertion criteria Waardenburg syndrome type 2E, without neurologic involvement
- p.Ser100fs No assertion criteria Waardenburg syndrome type 1
- p.Ser135Arg No assertion criteria Waardenburg syndrome type 2E
- p.Ser135Thr No assertion criteria Waardenburg syndrome type 2E, without neurologic involvement
- p.Ser390Ter No assertion criteria Waardenburg syndrome type 2E
- p.Trp142Ser No assertion criteria PCWH syndrome
- p.Tyr207Ter No assertion criteria Waardenburg syndrome type 4C
- p.Tyr460fs No assertion criteria Waardenburg syndrome type 2E
- p.Tyr83Ter No assertion criteria Waardenburg syndrome type 4C
Pathogenic/Likely pathogenic 11
- p.Arg159Trp Multiple submitters SOX10-related disorder
- p.Arg161Cys Multiple submitters Deafness with anatomical inner ear anomalies
- p.Gln364Ter Multiple submitters Waardenburg syndrome type 4C
- p.Gln399fs Multiple submitters Waardenburg syndrome type 2E
- p.His368_Tyr369insTer Multiple submitters Waardenburg syndrome type 4C
- p.His454fs Multiple submitters Waardenburg syndrome type 4C
- p.Pro175Ser Multiple submitters Waardenburg syndrome type 2E
- p.Pro363fs Multiple submitters Monogenic hearing loss
- p.Pro48fs Multiple submitters Waardenburg syndrome type 4C
- p.Ser135Asn Multiple submitters Waardenburg syndrome type 4C
- p.Trp142Arg Multiple submitters Rare genetic deafness
Likely pathogenic 77
- c.428+2T>C Single submitter Inborn genetic diseases
- c.428+2T>G Single submitter Waardenburg syndrome type 2E
- c.698-11_713del Single submitter
- c.698-2A>G Single submitter Monogenic hearing loss
- c.698-3C>G Single submitter Waardenburg syndrome type 4C
- c.698-4_698-2delinsATG Single submitter PCWH syndrome
- c.-84-2_-84del Single submitter SOX10-related disorder
- c.-85+1G>A Single submitter Waardenburg syndrome type 4C
- p.Ala118Pro Single submitter Waardenburg syndrome type 4C
- p.Ala157Pro Single submitter
- p.Ala157Thr Single submitter Waardenburg syndrome type 4C
- p.Arg119fs Single submitter Waardenburg syndrome type 2E
- p.Arg151Cys Single submitter
- p.Arg151Pro Single submitter Waardenburg syndrome type 4C
- p.Arg159Pro Single submitter SOX10-related disorder
- p.Arg177Trp Single submitter
- p.Arg21fs Single submitter Autosomal dominant SOX10-related disorders
- p.Asn109Lys Single submitter
- p.Asn131Ser Single submitter Waardenburg syndrome type 4C
- p.Asn131Thr Single submitter Waardenburg syndrome type 4C
- p.Asp64fs Single submitter Waardenburg syndrome type 4C
- p.Cys190fs Single submitter SOX10-related disorder
- p.Cys71Ter Single submitter SOX10-related disorder
- p.Gln204Ter Single submitter Waardenburg syndrome type 4C
- p.Glu147Ter Single submitter Waardenburg syndrome type 4C
- p.Glu194Ter Single submitter Waardenburg syndrome type 4C
- p.Glu196Ter Single submitter Waardenburg syndrome type 4C
- p.Glu229Ter Single submitter SOX10-related disorder
- p.Glu284Ter Single submitter PCWH syndrome
- p.Glu4fs Single submitter SOX10-related disorder
- p.Gly139Arg Single submitter Waardenburg syndrome type 4C
- p.Gly199fs Single submitter SOX10-related disorder
- p.Gly36fs Single submitter Waardenburg syndrome type 4C
- p.His164Pro Single submitter
- p.His368fs Single submitter Monogenic hearing loss
- p.Ile72Thr Single submitter Waardenburg syndrome type 4C
- p.Leu122Val Single submitter Waardenburg syndrome type 4C
- p.Leu129Pro Single submitter Waardenburg syndrome type 2E
- p.Leu134Phe Single submitter Waardenburg syndrome
- p.Leu134Pro Single submitter Rare genetic deafness
- p.Leu138Pro Single submitter Waardenburg syndrome type 4C
- p.Leu138Val Single submitter Waardenburg syndrome type 4C
- p.Leu144fs Single submitter Waardenburg syndrome type 2A
- p.Lys101Ter Single submitter Waardenburg syndrome type 4C
- p.Lys208fs Single submitter
- p.Lys246fs Single submitter
- p.Met112Arg Single submitter Waardenburg syndrome type 2E
- p.Met1Val Single submitter
- p.Pro175Leu Single submitter
- p.Pro33fs Single submitter Waardenburg syndrome type 4C
- p.Pro366fs Single submitter Waardenburg syndrome type 4C
- p.Pro46fs Single submitter Waardenburg syndrome type 4C
- p.Pro91fs Single submitter Waardenburg syndrome type 4C
- p.Ser135Gly Single submitter Waardenburg syndrome type 2E
- p.Ser148fs Single submitter SOX10-related disorder
- p.Ser17Ter Single submitter
- p.Ser312fs Single submitter Waardenburg syndrome type 4C
- p.Ser376Ter Single submitter PCWH syndrome
- p.Ser394fs Single submitter Waardenburg syndrome type 1
- p.Ser8fs Single submitter Waardenburg syndrome type 2E
- p.Ter467Gln Single submitter
- p.Ter467Leu Single submitter PCWH syndrome
- p.Ter467Xaa Single submitter PCWH syndrome
- p.Trp114Ser Single submitter Waardenburg syndrome type 4C
- p.Trp142Cys Single submitter Waardenburg syndrome type 4C
- p.Tyr318Ter Single submitter Waardenburg syndrome type 2E
- p.Tyr388fs Single submitter Waardenburg syndrome type 4C
- p.Tyr412Ter Single submitter
- p.Val310fs Single submitter SOX10-related disorder
- p.Val79fs Single submitter SOX10-related disorder
- p.Val92fs Single submitter Waardenburg syndrome type 4C
- p.Ala327fs No assertion criteria Waardenburg syndrome type 4C
- p.Arg106Gly No assertion criteria Waardenburg syndrome type 2E
- p.Leu141Pro No assertion criteria Waardenburg syndrome type 1
- p.Lys182fs No assertion criteria SOX10-related disorder
- p.Tyr171Ser No assertion criteria Waardenburg syndrome type 4C
- p.Tyr300Ter No assertion criteria SOX10-related disorder
Conflicting classifications of pathogenicity 41
- c.-166C>T Single submitter Waardenburg syndrome
- p.Ala115Thr Single submitter Waardenburg syndrome type 4C ⚠
- p.Ala132= Single submitter
- p.Ala201Thr Single submitter ⚠
- p.Ala327= Single submitter
- p.Ala361Thr Single submitter Waardenburg syndrome type 4C ⚠
- p.Ala418Thr Single submitter ⚠
- p.Ala44Gly Single submitter Waardenburg syndrome ⚠
- p.Arg159Gln Single submitter Waardenburg syndrome type 4C ⚠
- p.Arg161His Single submitter Waardenburg syndrome type 2E ⚠
- p.Arg215Gln Single submitter PCWH syndrome ⚠
- p.Arg261His Single submitter ⚠
- p.Asp60Asn Single submitter ⚠
- p.Asp64Ala Single submitter ⚠
- p.Glu359Asp Single submitter ⚠
- p.Glu57Lys Single submitter ⚠
- p.Gly139Cys Single submitter Waardenburg syndrome type 2E ⚠
- p.Gly192Ser Single submitter ⚠
- p.Gly365Arg Single submitter Waardenburg syndrome type 2E ⚠
- p.Gly39_Ser40insGly Single submitter
- p.His306= Single submitter Waardenburg syndrome
- p.His387Gln Single submitter ⚠
- p.His414Pro Single submitter ⚠
- p.Met108Thr Single submitter Waardenburg syndrome type 2E ⚠
- p.Met108Val Single submitter Waardenburg syndrome type 4C ⚠
- p.Met112Thr Single submitter SOX10-related disorder ⚠
- p.Met112Val Single submitter PCWH syndrome ⚠
- p.Met428Ile Single submitter ⚠
- p.Pro169Leu Single submitter SOX10-related disorder ⚠
- p.Pro256= Single submitter Waardenburg syndrome type 4C
- p.Pro302= Single submitter Waardenburg syndrome
- p.Ser24= Single submitter
- p.Ser311Asn Single submitter ⚠
- p.Thr344Met Single submitter ⚠
- p.Thr370Ile Single submitter ⚠
- p.Val113Met Single submitter SOX10-related disorder ⚠
- p.Val276Met Single submitter ⚠
- p.Val340Met Single submitter ⚠
- p.Val92Leu Single submitter Waardenburg syndrome ⚠
- p.Val92Met Single submitter Waardenburg syndrome type 2E ⚠
- p.Gly266fs No assertion criteria Charcot-Marie-Tooth disease
Benign 17
- c.698-216C>T Multiple submitters
- c.*475G>A Multiple submitters Waardenburg syndrome
- p.Asp6= Multiple submitters Waardenburg syndrome
- p.His309= Multiple submitters Waardenburg syndrome
- c.429-147G>A Single submitter
- c.697+389C>T Single submitter
- c.698-150dup Single submitter
- c.698-159C>A Single submitter
- c.698-29CT[4] Single submitter
- c.698-52_698-42del Single submitter
- c.*27G>A Single submitter Waardenburg syndrome
- c.*537G>C Single submitter Waardenburg syndrome
- p.Ala332Thr Single submitter
- p.Ala361Val Single submitter
- p.Ala438Thr Single submitter
- p.Glu187Lys Single submitter
- p.Val94Ala Single submitter
Benign/Likely benign 13
- c.428+10C>G Multiple submitters Waardenburg syndrome
- c.428+18C>T Multiple submitters
- c.429-12A>G Multiple submitters Waardenburg syndrome
- c.429-19G>A Multiple submitters
- c.698-29CT[7] Multiple submitters
- p.Ala325= Multiple submitters Waardenburg syndrome
- p.Gly274= Multiple submitters Waardenburg syndrome
- p.Gly41Val Multiple submitters Waardenburg syndrome
- p.Pro169= Multiple submitters PCWH syndrome
- p.Ser346= Multiple submitters
- p.Thr200= Multiple submitters
- p.Thr360= Multiple submitters
- p.Tyr83= Multiple submitters Waardenburg syndrome
Likely benign 109
- c.428+16C>T Multiple submitters
- c.698-29CT[5] Multiple submitters
- c.698-78A>G Multiple submitters
- c.-8G>A Multiple submitters
- p.Ala188= Multiple submitters
- p.Ala202Thr Multiple submitters
- p.Ala316= Multiple submitters
- p.Ala361= Multiple submitters
- p.Asn275= Multiple submitters
- p.Asn304Ser Multiple submitters Inborn genetic diseases
- p.Asp34= Multiple submitters
- p.Gln116= Multiple submitters
- p.Gln364Pro Multiple submitters
- p.Gly220= Multiple submitters
- p.Gly317Ser Multiple submitters
- p.His128= Multiple submitters
- p.His283= Multiple submitters
- p.Phe273= Multiple submitters
- p.Pro191= Multiple submitters
- p.Pro228= Multiple submitters
- p.Pro239= Multiple submitters
- p.Pro241= Multiple submitters
- p.Ser251= Multiple submitters
- p.Ser328= Multiple submitters
- p.Ser331= Multiple submitters
- p.Ser415= Multiple submitters
- p.Ser451= Multiple submitters
- p.Ser77= Multiple submitters
- p.Thr375= Multiple submitters
- p.Thr437= Multiple submitters
- c.428+10C>A Single submitter
- c.429-19G>T Single submitter
- c.429-20C>T Single submitter
- c.429-4C>T Single submitter
- c.429-6C>A Single submitter
- c.697+20C>T Single submitter
- c.697+398G>A Single submitter
- c.-23C>T Single submitter
- c.-27G>A Single submitter
- c.-28GGC[5] Single submitter
- c.-28GGC[7] Single submitter
- c.-55G>A Single submitter
- c.-84-124A>T Single submitter
- c.-84-6A>C Single submitter
- c.*932G>A Single submitter Waardenburg syndrome
- p.Ala118= Single submitter
- p.Ala123= Single submitter
- p.Ala183= Single submitter
- p.Ala184Thr Single submitter
- p.Ala2= Single submitter
- p.Ala332= Single submitter
- p.Ala361Gly Single submitter
- p.Ala391= Single submitter
- p.Ala63= Single submitter
- p.Arg176= Single submitter
- p.Arg178= Single submitter
- p.Asn146= Single submitter
- p.Asp124= Single submitter
- p.Gln399= Single submitter
- p.Glu19= Single submitter
- p.Glu196Gln Single submitter
- p.Glu196Lys Single submitter
- p.Glu265= Single submitter
- p.Glu4Gly Single submitter
- p.Glu9= Single submitter
- p.Gly193= Single submitter
- p.Gly233= Single submitter
- p.Gly32= Single submitter
- p.Gly47= Single submitter
- p.Gly82= Single submitter
- p.Gly96= Single submitter
- p.His168= Single submitter
- p.Ile154= Single submitter
- p.Ile271= Single submitter
- p.Ile278Val Single submitter Hirschsprung disease
- p.Ile378= Single submitter
- p.Leu145= Single submitter
- p.Leu249= Single submitter
- p.Leu297= Single submitter
- p.Leu301= Single submitter
- p.Leu31= Single submitter
- p.Leu320= Single submitter
- p.Leu435= Single submitter
- p.Leu80= Single submitter
- p.Leu87= Single submitter
- p.Phe111= Single submitter
- p.Pro14= Single submitter
- p.Pro217= Single submitter
- p.Pro245= Single submitter
- p.Pro343= Single submitter
- p.Pro348= Single submitter
- p.Pro430= Single submitter
- p.Pro48= Single submitter
- p.Pro69= Single submitter
- p.Ser17= Single submitter
- p.Ser322= Single submitter
- p.Ser384= Single submitter
- p.Ser403Tyr Single submitter
- p.Ser419= Single submitter
- p.Ser423= Single submitter
- p.Ser431= Single submitter
- p.Thr240= Single submitter
- p.Thr370= Single submitter
- p.Tyr411Cys Single submitter ⚠
- p.Val356= Single submitter
- p.Val54= Single submitter
- c.429-14C>T No assertion criteria SOX10-related disorder
- p.Val294= No assertion criteria SOX10-related disorder
- p.Val459= No assertion criteria SOX10-related disorder
Uncertain significance 173
- c.-29A>G Multiple submitters PCWH syndrome
- p.Ala110Val Multiple submitters ⚠
- p.Ala132Pro Multiple submitters Waardenburg syndrome type 4C ⚠
- p.Ala28Val Multiple submitters ⚠
- p.Arg119His Multiple submitters ⚠
- p.Arg21Gly Multiple submitters Inborn genetic diseases ⚠
- p.Arg258Gln Multiple submitters SOX10-related disorder ⚠
- p.Arg433Gln Multiple submitters ⚠
- p.Asp371Asn Multiple submitters Waardenburg syndrome ⚠
- p.Asp64Val Multiple submitters ⚠
- p.Cys71Gly Multiple submitters Waardenburg syndrome type 2E ⚠
- p.Gly16Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly260Arg Multiple submitters ⚠
- p.Gly266Asp Multiple submitters Inborn genetic diseases ⚠
- p.Gly389Ser Multiple submitters PCWH syndrome ⚠
- p.Gly38Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly61Ser Multiple submitters PCWH syndrome ⚠
- p.His216Gln Multiple submitters ⚠
- p.Lys208Glu Multiple submitters ⚠
- p.Met263Ile Multiple submitters ⚠
- p.Pro29Thr Multiple submitters ⚠
- p.Ser224Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ser24Tyr Multiple submitters ⚠
- p.Ser251Leu Multiple submitters ⚠
- p.Ser415Leu Multiple submitters Waardenburg syndrome ⚠
- p.Ser431Leu Multiple submitters ⚠
- p.Ser98Arg Multiple submitters ⚠
- p.Thr240Pro Multiple submitters Waardenburg syndrome type 4C ⚠
- p.Val326Met Multiple submitters Waardenburg syndrome ⚠
- c.429-3C>A Single submitter
- c.429-3C>T Single submitter intellectual disability
- c.429-6C>G Single submitter
- c.429-9dup Single submitter
- c.697+5G>A Single submitter
- c.-63A>G Single submitter Waardenburg syndrome
- c.-9G>A Single submitter PCWH syndrome
- c.*1179G>A Single submitter Waardenburg syndrome
- c.*158A>G Single submitter Waardenburg syndrome
- c.*327G>A Single submitter Waardenburg syndrome
- c.*568T>A Single submitter Waardenburg syndrome
- c.*830G>C Single submitter PCWH syndrome
- p.Ala110Thr Single submitter ⚠
- p.Ala115Val Single submitter Waardenburg syndrome type 4C ⚠
- p.Ala123Glu Single submitter ⚠
- p.Ala123Pro Single submitter ⚠
- p.Ala123Val Single submitter ⚠
- p.Ala132Val Single submitter ⚠
- p.Ala195= Single submitter Waardenburg syndrome
- p.Ala210Thr Single submitter Waardenburg syndrome ⚠
- p.Ala254Val Single submitter ⚠
- p.Ala28= Single submitter
- p.Ala332Pro Single submitter Inborn genetic diseases ⚠
- p.Ala379Ser Single submitter ⚠
- p.Arg106Trp Single submitter ⚠
- p.Arg119Leu Single submitter ⚠
- p.Arg119Ser Single submitter Waardenburg syndrome type 4C ⚠
- p.Arg151His Single submitter ⚠
- p.Arg177Gln Single submitter ⚠
- p.Arg178Trp Single submitter Kallmann syndrome ⚠
- p.Arg261Ser Single submitter ⚠
- p.Arg397Cys Single submitter Inborn genetic diseases ⚠
- p.Arg397His Single submitter ⚠
- p.Arg433Trp Single submitter Inborn genetic diseases ⚠
- p.Arg465Gln Single submitter ⚠
- p.Arg73Cys Single submitter ⚠
- p.Asn288Ser Single submitter ⚠
- p.Asp124Glu Single submitter ⚠
- p.Asp167Gly Single submitter ⚠
- p.Asp167Val Single submitter ⚠
- p.Asp259His Single submitter
- p.Asp272Asn Single submitter ⚠
- p.Asp272Tyr Single submitter ⚠
- p.Asp34Asn Single submitter ⚠
- p.Asp34Gly Single submitter ⚠
- p.Asp371Tyr Single submitter Waardenburg syndrome ⚠
- p.Asp404His Single submitter Inborn genetic diseases ⚠
- p.Asp404Ter Single submitter
- p.Asp60Glu Single submitter ⚠
- p.Asp65His Single submitter
- p.Asp66Glu Single submitter ⚠
- p.Asp84Asn Single submitter Inborn genetic diseases ⚠
- p.Cys190Trp Single submitter Waardenburg syndrome type 2E ⚠
- p.Gln197Pro Single submitter ⚠
- p.Gln372Glu Single submitter ⚠
- p.Gln406Lys Single submitter ⚠
- p.Gln78Pro Single submitter ⚠
- p.Glu147Lys Single submitter ⚠
- p.Glu155Lys Single submitter ⚠
- p.Glu187Gln Single submitter ⚠
- p.Glu189Lys Single submitter Inborn genetic diseases
- p.Glu194fs Single submitter Waardenburg syndrome type 4C
- p.Glu196_Gln197insAlaGluCysProGlyGlyGluAlaGlu Single submitter
- p.Glu229Lys Single submitter
- p.Glu50Lys Single submitter ⚠
- p.Glu74Gln Single submitter Inborn genetic diseases ⚠
- p.Gly139Asp Single submitter ⚠
- p.Gly181Arg Single submitter ⚠
- p.Gly186= Single submitter
- p.Gly237Ser Single submitter ⚠
- p.Gly260Ala Single submitter Beckwith-Wiedemann syndrome ⚠
- p.Gly274Ser Single submitter ⚠
- p.Gly308Ser Single submitter ⚠
- p.Gly319= Single submitter
- p.Gly365Glu Single submitter ⚠
- p.Gly36Ser Single submitter ⚠
- p.Gly39_Ser40insGlyGly Single submitter
- p.Gly41Asp Single submitter ⚠
- p.Gly47Val Single submitter ⚠
- p.Gly96Arg Single submitter ⚠
- p.His130Arg Single submitter Waardenburg syndrome type 2E ⚠
- p.His164Tyr Single submitter ⚠
- p.His211Gln Single submitter Inborn genetic diseases ⚠
- p.His309Tyr Single submitter ⚠
- p.Ile334Leu Single submitter ⚠
- p.Leu129Gln Single submitter Inborn genetic diseases ⚠
- p.Leu12Val Single submitter ⚠
- p.Leu144Pro Single submitter SOX10-related disorder ⚠
- p.Leu212Ser Single submitter ⚠
- p.Leu249Val Single submitter ⚠
- p.Leu324Pro Single submitter Inborn genetic diseases ⚠
- p.Lys105Gln Single submitter ⚠
- p.Lys105Glu Single submitter Waardenburg syndrome type 2E ⚠
- p.Lys166Glu Single submitter ⚠
- p.Lys179Asn Single submitter ⚠
- p.Lys246= Single submitter
- p.Lys253Asn Single submitter ⚠
- p.Lys99Arg Single submitter Inborn genetic diseases ⚠
- p.Met263Arg Single submitter Inborn genetic diseases ⚠
- p.Met263Val Single submitter ⚠
- p.Phe153Ile Single submitter ⚠
- p.Phe153Leu Single submitter ⚠
- p.Phe400Cys Single submitter PCWH syndrome ⚠
- p.Phe68Leu Single submitter Waardenburg syndrome ⚠
- p.Pro107Ser Single submitter ⚠
- p.Pro127Ala Single submitter ⚠
- p.Pro127Leu Single submitter ⚠
- p.Pro14Ala Single submitter ⚠
- p.Pro238Leu Single submitter hypogonadotropic hypogonadism ⚠
- p.Pro245Leu Single submitter ⚠
- p.Pro256Leu Single submitter ⚠
- p.Pro25Arg Single submitter ⚠
- p.Pro25fs Single submitter Waardenburg syndrome type 2E
- p.Pro303Ser Single submitter
- p.Pro337Ser Single submitter Inborn genetic diseases ⚠
- p.Pro343Thr Single submitter ⚠
- p.Pro398Leu Single submitter ⚠
- p.Pro407Leu Single submitter Inborn genetic diseases ⚠
- p.Pro430Ser Single submitter ⚠
- p.Pro444Arg Single submitter ⚠
- p.Pro452Leu Single submitter ⚠
- p.Pro46Arg Single submitter Inborn genetic diseases ⚠
- p.Pro69Ser Single submitter ⚠
- p.Pro91Ser Single submitter Inborn genetic diseases ⚠
- p.Ser135Ile Single submitter Waardenburg syndrome type 2E
- p.Ser311Thr Single submitter Inborn genetic diseases ⚠
- p.Ser312Cys Single submitter ⚠
- p.Ser328Gly Single submitter ⚠
- p.Ser45= Single submitter Waardenburg syndrome
- p.Thr453Ala Single submitter Inborn genetic diseases ⚠
- p.Thr453Pro Single submitter ⚠
- p.Trp142Leu Single submitter ⚠
- p.Tyr173Cys Single submitter Waardenburg syndrome type 4C ⚠
- p.Tyr427fs Single submitter Waardenburg syndrome type 2E
- p.Val10Met Single submitter ⚠
- p.Val15Met Single submitter ⚠
- p.Val294Met Single submitter ⚠
- p.Val326Leu Single submitter ⚠
- p.Arg161_Met162insGlyGlyTer No assertion criteria Waardenburg syndrome type 4C
- p.Arg178Gln No assertion criteria SOX10-related disorder ⚠
- p.Gln5Glu No assertion criteria SOX10-related disorder ⚠
- p.His236fs No assertion criteria Waardenburg syndrome type 2E
- p.Ser346Ter No assertion criteria Charcot-Marie-Tooth disease
- p.Tyr171Phe No assertion criteria SOX10-related disorder ⚠