ROGDI — 619 ClinVar variants

All ClinVar germline ROGDI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 205 flagged for review →

27 Pathogenic · 3 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 19 Conflicting · 16 Benign · 15 Benign/Likely benign · 264 Likely benign · 259 Uncertain significance

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

⚑ Evidence disagreements 205

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 5

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

ROGDI p.Ala101Thr Conflicting Single submitter
Inborn genetic diseases
ROGDI p.Ala172Thr Conflicting Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Leu209Val Conflicting Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Lys137Arg Conflicting Single submitter
Inborn genetic diseases
ROGDI p.Ser129Asn Conflicting Single submitter
amelocerebrohypohidrotic syndrome

Predictors lean, ClinVar uncertain 138

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

ROGDI p.Ala101Gly Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Ala156Val Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Ala164Thr Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Ala173Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Ala220Ser Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Ala220Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Ala223Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Ala257Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Ala29Thr Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Ala2Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Ala7Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Arg103Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Arg130Gln Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Arg178Leu Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Arg218His Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Arg93Gln Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Arg93Trp Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Asn195Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Asn255Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Asp115Gly Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Gln107Glu Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Gln58Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Gly175Ser Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Leu23Pro Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Leu265Arg Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Lys106Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Met231Val Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Pro185Arg Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Ser133Gly Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Ser242Gly Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Ser242Thr Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Ser280Gly Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Thr162Asn Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Thr177Lys Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Val192Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Val250Leu Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Val263Ile Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Ala123Thr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ala140Thr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ala181Thr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ala183Val Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ala208Val Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ala220Gly Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ala223Ser Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ala29Gly Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ala29Pro Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ala29Val Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ala2Val Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ala56Ser Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Ala6Ser Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Ala7Thr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ala9Thr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Arg117Gly Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Arg12Leu Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Arg130Trp Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Arg157Gly Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Arg178Gln Uncertain significance Single submitter
ROGDI p.Arg218Cys Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asn197Ser Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asn60Asp Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asp131Ala Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asp131His Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asp25Glu Uncertain significance Single submitter
ROGDI p.Asp69Glu Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asp69Tyr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asp69Val Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Cys66Tyr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Gln205His Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Gln78His Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Glu104Lys Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Glu141Lys Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Glu16Gln Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Glu26Gln Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Glu53Gly Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Gly49Asp Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Gly51Ser Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Gly64Ser Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Gly73Ala Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Gly79Glu Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.His119Arg Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.His207Arg Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.His243Asp Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.His28Pro Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.His99Arg Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ile194Val Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ile251Val Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ile37Val Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Ile62Met Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Leu143Phe Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Leu168His Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Leu188Val Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Leu196Phe Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Leu206Val Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Leu38Arg Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Leu82His Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Leu89Met Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Lys72Arg Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Met146Leu Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Met231Thr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Met5Thr Uncertain significance Single submitter
ROGDI p.Phe100Leu Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Pro185Leu Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Pro211Thr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Pro252Arg Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Pro252Thr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Pro286Ala Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Pro55Ser Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Pro92Thr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ser213Ala Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ser236Cys Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ser242Cys Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Ser279Cys Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ser280Ile Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ser42Phe Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Ser50Cys Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ser50Pro Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ser65Thr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Thr162Ile Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Thr167Ala Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Thr177Met Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Thr202Met Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Thr262Ile Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Thr46Ser Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Thr52Ala Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Thr52Ile Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Trp21Cys Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Trp234Gly Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Tyr125Ser Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Tyr193Phe Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Tyr284Cys Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Val142Phe Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Val149Leu Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Val192Asp Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Val203Leu Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Val250Met Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Val259Ile Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Val4Glu Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Val87Gly Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome

Predictors split 62

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

ROGDI p.Arg12Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Arg157Gln Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Arg178Trp Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Arg238His Benign/Likely benign Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Glu170Lys Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Glu233Lys Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Glu59Lys Likely benign Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Gly79Arg Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.His226Arg Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Ile275Met Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Lys39Asn Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Phe261Leu Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Phe287Leu Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Thr68Pro Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Tyr193His Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Val247Glu Uncertain significance Multiple submitters
Inborn genetic diseases
ROGDI p.Val277Met Uncertain significance Multiple submitters
amelocerebrohypohidrotic syndrome
ROGDI p.Arg130Pro Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Arg155Ser Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asn191Thr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asn195Ile Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asn197Lys Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asp187His Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asp256Asn Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asp273Glu Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Asp86Val Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Cys200Phe Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Gln266Arg Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Gln269Glu Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Gln269Lys Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Gln35Pro Uncertain significance Single submitter
ROGDI p.Glu11Lys Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Glu141Asp Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Glu17Lys Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Glu248Gln Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Glu26Asp Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Glu40Asp Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Gly139Asp Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Gly139Ser Uncertain significance Single submitter
ROGDI p.Gly221Arg Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Gly221Trp Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Gly222Asp Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.His99Tyr Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Leu199Phe Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Leu271Phe Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Lys106Asn Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Lys109Asn Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Lys109Glu Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Lys144Glu Uncertain significance Single submitter
Inborn genetic diseases
ROGDI p.Phe102Ser Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Phe136Leu Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Phe232Ser Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ser279Phe Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Ser65Arg Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Thr138Arg Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Thr202Arg Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Thr262Ser Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Trp282Arg Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Val203Met Uncertain significance Single submitter
ROGDI p.Val244Met Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Val277Leu Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome
ROGDI p.Val30Leu Uncertain significance Single submitter
amelocerebrohypohidrotic syndrome

All ROGDI variants

Pathogenic 27

p.Arg157Ter Multiple submitters amelocerebrohypohidrotic syndrome
p.Gln96Ter Multiple submitters amelocerebrohypohidrotic syndrome
p.Glu170fs Multiple submitters amelocerebrohypohidrotic syndrome
p.Leu77fs Multiple submitters amelocerebrohypohidrotic syndrome
c.117+1G>T Single submitter amelocerebrohypohidrotic syndrome
c.532-2A>T Single submitter amelocerebrohypohidrotic syndrome
c.646-2A>G Single submitter amelocerebrohypohidrotic syndrome
c.-3_45+8del Single submitter amelocerebrohypohidrotic syndrome
p.Ala223fs Single submitter amelocerebrohypohidrotic syndrome
p.Arg218fs Single submitter amelocerebrohypohidrotic syndrome
p.Asp25fs Single submitter amelocerebrohypohidrotic syndrome
p.Gln111Ter Single submitter amelocerebrohypohidrotic syndrome
p.Gln205Ter Single submitter amelocerebrohypohidrotic syndrome
p.Gln35Ter Single submitter amelocerebrohypohidrotic syndrome
p.Gln70Ter Single submitter amelocerebrohypohidrotic syndrome
p.Gln78Ter Single submitter amelocerebrohypohidrotic syndrome
p.Gln84Ter Single submitter amelocerebrohypohidrotic syndrome
p.Glu104fs Single submitter amelocerebrohypohidrotic syndrome
p.Glu18Ter Single submitter amelocerebrohypohidrotic syndrome
p.Ile194fs Single submitter amelocerebrohypohidrotic syndrome
p.Leu239fs Single submitter amelocerebrohypohidrotic syndrome
p.Lys57Ter Single submitter amelocerebrohypohidrotic syndrome
p.Thr52fs Single submitter amelocerebrohypohidrotic syndrome
p.Trp108Ter Single submitter
p.Trp21Ter Single submitter amelocerebrohypohidrotic syndrome
p.Trp253Ter Single submitter
p.Tyr134Ter Single submitter amelocerebrohypohidrotic syndrome

Pathogenic/Likely pathogenic 3

c.117+1G>A Multiple submitters amelocerebrohypohidrotic syndrome
p.Gln112Ter Multiple submitters amelocerebrohypohidrotic syndrome
p.Gln114Ter Multiple submitters ROGDI-related disorder

Likely pathogenic 16

c.46-2A>G Multiple submitters amelocerebrohypohidrotic syndrome
c.531+5G>C Multiple submitters amelocerebrohypohidrotic syndrome
c.645+2T>A Multiple submitters amelocerebrohypohidrotic syndrome
c.118-2A>C Single submitter amelocerebrohypohidrotic syndrome
c.118-2A>G Single submitter amelocerebrohypohidrotic syndrome
c.201-1G>C Single submitter amelocerebrohypohidrotic syndrome
c.255+1G>T Single submitter ROGDI-related disorder
c.319_336+64del Single submitter amelocerebrohypohidrotic syndrome
c.329_336+5del Single submitter amelocerebrohypohidrotic syndrome
c.337-2A>G Single submitter amelocerebrohypohidrotic syndrome
c.432+1dup Single submitter amelocerebrohypohidrotic syndrome
c.45+9_45+20del Single submitter amelocerebrohypohidrotic syndrome
c.532-1G>C Single submitter amelocerebrohypohidrotic syndrome
c.532-2A>G Single submitter amelocerebrohypohidrotic syndrome
c.645+1G>T Single submitter amelocerebrohypohidrotic syndrome
c.646-2_649del Single submitter amelocerebrohypohidrotic syndrome

Conflicting classifications of pathogenicity 19

c.336+6C>T Single submitter amelocerebrohypohidrotic syndrome
c.432+13C>T Single submitter amelocerebrohypohidrotic syndrome
c.532-4G>A Single submitter amelocerebrohypohidrotic syndrome
c.822+14G>A Single submitter amelocerebrohypohidrotic syndrome
c.822+8C>T Single submitter amelocerebrohypohidrotic syndrome
c.823-15C>T Single submitter amelocerebrohypohidrotic syndrome
p.Ala101Thr Single submitter Inborn genetic diseases ⚠
p.Ala172Thr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala81= Single submitter amelocerebrohypohidrotic syndrome
p.Ile251= Single submitter amelocerebrohypohidrotic syndrome
p.Leu126= Single submitter amelocerebrohypohidrotic syndrome
p.Leu189= Single submitter amelocerebrohypohidrotic syndrome
p.Leu209Val Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Leu265= Single submitter amelocerebrohypohidrotic syndrome
p.Lys137Arg Single submitter Inborn genetic diseases ⚠
p.Phe261= Single submitter amelocerebrohypohidrotic syndrome
p.Pro169= Single submitter amelocerebrohypohidrotic syndrome
p.Ser129Asn Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ser276= Single submitter amelocerebrohypohidrotic syndrome

Benign 16

c.531+76G>C Multiple submitters
c.695+30A>G Multiple submitters
c.823-22A>G Multiple submitters amelocerebrohypohidrotic syndrome
c.-320C>G Multiple submitters amelocerebrohypohidrotic syndrome
c.*144G>A Multiple submitters amelocerebrohypohidrotic syndrome
c.*292C>T Multiple submitters amelocerebrohypohidrotic syndrome
p.Asp131Glu Multiple submitters amelocerebrohypohidrotic syndrome
p.Gly139= Multiple submitters amelocerebrohypohidrotic syndrome
c.432+13dup Single submitter amelocerebrohypohidrotic syndrome
c.433-141_433-140del Single submitter
c.45+37_46-30del Single submitter amelocerebrohypohidrotic syndrome
c.645+15del Single submitter amelocerebrohypohidrotic syndrome
c.*116C>T Single submitter
c.*270T>C Single submitter amelocerebrohypohidrotic syndrome
p.His226= Single submitter amelocerebrohypohidrotic syndrome
p.Thr262= Single submitter amelocerebrohypohidrotic syndrome

Benign/Likely benign 15

c.117+10C>G Multiple submitters amelocerebrohypohidrotic syndrome
c.117+10C>T Multiple submitters amelocerebrohypohidrotic syndrome
c.118-13C>G Multiple submitters amelocerebrohypohidrotic syndrome
c.118-24_118-17del Multiple submitters amelocerebrohypohidrotic syndrome
c.433-15C>T Multiple submitters amelocerebrohypohidrotic syndrome
c.45+19C>G Multiple submitters amelocerebrohypohidrotic syndrome
c.646-5C>T Multiple submitters amelocerebrohypohidrotic syndrome
c.696-8G>T Multiple submitters amelocerebrohypohidrotic syndrome
c.822+17C>T Multiple submitters amelocerebrohypohidrotic syndrome
c.823-10C>T Multiple submitters amelocerebrohypohidrotic syndrome
p.Arg238His Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Phe232= Multiple submitters amelocerebrohypohidrotic syndrome
p.Pro163= Multiple submitters amelocerebrohypohidrotic syndrome
p.Ser174= Multiple submitters amelocerebrohypohidrotic syndrome
p.Thr138= Multiple submitters amelocerebrohypohidrotic syndrome

Likely benign 264

c.117+9C>G Multiple submitters amelocerebrohypohidrotic syndrome
c.201-13C>T Multiple submitters amelocerebrohypohidrotic syndrome
c.201-15C>T Multiple submitters amelocerebrohypohidrotic syndrome
c.255+12G>A Multiple submitters amelocerebrohypohidrotic syndrome
c.46-5C>T Multiple submitters amelocerebrohypohidrotic syndrome
c.531+15_531+24del Multiple submitters amelocerebrohypohidrotic syndrome
c.646-11G>A Multiple submitters amelocerebrohypohidrotic syndrome
c.695+13G>A Multiple submitters amelocerebrohypohidrotic syndrome
c.822+9G>A Multiple submitters amelocerebrohypohidrotic syndrome
c.*347G>T Multiple submitters amelocerebrohypohidrotic syndrome
c.*380G>A Multiple submitters amelocerebrohypohidrotic syndrome
p.Ala172= Multiple submitters amelocerebrohypohidrotic syndrome
p.Ala223= Multiple submitters amelocerebrohypohidrotic syndrome
p.Asn191= Multiple submitters amelocerebrohypohidrotic syndrome
p.Asn255= Multiple submitters amelocerebrohypohidrotic syndrome
p.Cys249= Multiple submitters amelocerebrohypohidrotic syndrome
p.Gln270= Multiple submitters amelocerebrohypohidrotic syndrome
p.Glu26= Multiple submitters amelocerebrohypohidrotic syndrome
p.Glu59Lys Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Leu188= Multiple submitters amelocerebrohypohidrotic syndrome
p.Leu22= Multiple submitters amelocerebrohypohidrotic syndrome
p.Leu63= Multiple submitters amelocerebrohypohidrotic syndrome
p.Phe180= Multiple submitters amelocerebrohypohidrotic syndrome
p.Pro182= Multiple submitters amelocerebrohypohidrotic syndrome
p.Pro185= Multiple submitters amelocerebrohypohidrotic syndrome
c.117+11G>A Single submitter
c.117+11G>T Single submitter amelocerebrohypohidrotic syndrome
c.117+16C>T Single submitter amelocerebrohypohidrotic syndrome
c.117+20C>G Single submitter amelocerebrohypohidrotic syndrome
c.117+7A>G Single submitter amelocerebrohypohidrotic syndrome
c.117+9C>T Single submitter amelocerebrohypohidrotic syndrome
c.118-11C>G Single submitter amelocerebrohypohidrotic syndrome
c.118-13C>T Single submitter amelocerebrohypohidrotic syndrome
c.118-14C>T Single submitter amelocerebrohypohidrotic syndrome
c.118-20T>C Single submitter amelocerebrohypohidrotic syndrome
c.118-6C>G Single submitter amelocerebrohypohidrotic syndrome
c.118-6C>T Single submitter amelocerebrohypohidrotic syndrome
c.118-9G>C Single submitter amelocerebrohypohidrotic syndrome
c.200+11G>A Single submitter amelocerebrohypohidrotic syndrome
c.200+17C>G Single submitter amelocerebrohypohidrotic syndrome
c.200+19G>C Single submitter amelocerebrohypohidrotic syndrome
c.201-14G>A Single submitter amelocerebrohypohidrotic syndrome
c.201-17G>A Single submitter amelocerebrohypohidrotic syndrome
c.201-19C>G Single submitter amelocerebrohypohidrotic syndrome
c.201-9A>G Single submitter amelocerebrohypohidrotic syndrome
c.201-9A>T Single submitter amelocerebrohypohidrotic syndrome
c.255+11C>T Single submitter amelocerebrohypohidrotic syndrome
c.255+12G>C Single submitter amelocerebrohypohidrotic syndrome
c.255+13del Single submitter amelocerebrohypohidrotic syndrome
c.255+13G>T Single submitter amelocerebrohypohidrotic syndrome
c.255+20C>G Single submitter amelocerebrohypohidrotic syndrome
c.255+20C>T Single submitter amelocerebrohypohidrotic syndrome
c.255+22C>T Single submitter
c.255+7_255+11dup Single submitter amelocerebrohypohidrotic syndrome
c.255+8C>A Single submitter amelocerebrohypohidrotic syndrome
c.256-11T>C Single submitter amelocerebrohypohidrotic syndrome
c.256-16C>G Single submitter amelocerebrohypohidrotic syndrome
c.256-17C>A Single submitter amelocerebrohypohidrotic syndrome
c.256-19C>T Single submitter
c.256-29_256-13dup Single submitter amelocerebrohypohidrotic syndrome
c.256-4T>C Single submitter amelocerebrohypohidrotic syndrome
c.256-5G>A Single submitter amelocerebrohypohidrotic syndrome
c.256-7C>G Single submitter amelocerebrohypohidrotic syndrome
c.256-7C>T Single submitter amelocerebrohypohidrotic syndrome
c.336+12C>T Single submitter amelocerebrohypohidrotic syndrome
c.336+13C>G Single submitter amelocerebrohypohidrotic syndrome
c.336+13C>T Single submitter amelocerebrohypohidrotic syndrome
c.336+19G>T Single submitter amelocerebrohypohidrotic syndrome
c.336+8C>A Single submitter amelocerebrohypohidrotic syndrome
c.336+8C>T Single submitter amelocerebrohypohidrotic syndrome
c.336+9G>A Single submitter amelocerebrohypohidrotic syndrome
c.337-11C>A Single submitter amelocerebrohypohidrotic syndrome
c.337-13C>T Single submitter amelocerebrohypohidrotic syndrome
c.337-15G>T Single submitter amelocerebrohypohidrotic syndrome
c.337-4C>G Single submitter amelocerebrohypohidrotic syndrome
c.337-7C>G Single submitter amelocerebrohypohidrotic syndrome
c.432+11C>G Single submitter amelocerebrohypohidrotic syndrome
c.432+11C>T Single submitter amelocerebrohypohidrotic syndrome
c.432+12C>A Single submitter amelocerebrohypohidrotic syndrome
c.432+14G>A Single submitter amelocerebrohypohidrotic syndrome
c.432+16G>A Single submitter amelocerebrohypohidrotic syndrome
c.432+17C>T Single submitter amelocerebrohypohidrotic syndrome
c.432+8G>A Single submitter amelocerebrohypohidrotic syndrome
c.433-12C>T Single submitter amelocerebrohypohidrotic syndrome
c.433-13C>T Single submitter amelocerebrohypohidrotic syndrome
c.433-14G>A Single submitter amelocerebrohypohidrotic syndrome
c.433-18C>T Single submitter amelocerebrohypohidrotic syndrome
c.433-5T>C Single submitter amelocerebrohypohidrotic syndrome
c.433-7C>A Single submitter amelocerebrohypohidrotic syndrome
c.433-8C>T Single submitter amelocerebrohypohidrotic syndrome
c.45+11C>G Single submitter amelocerebrohypohidrotic syndrome
c.45+12G>A Single submitter amelocerebrohypohidrotic syndrome
c.45+14G>A Single submitter amelocerebrohypohidrotic syndrome
c.45+15C>T Single submitter amelocerebrohypohidrotic syndrome
c.45+16C>A Single submitter amelocerebrohypohidrotic syndrome
c.45+17A>G Single submitter amelocerebrohypohidrotic syndrome
c.45+17A>T Single submitter
c.45+18G>A Single submitter
c.45+9C>T Single submitter amelocerebrohypohidrotic syndrome
c.46-11C>T Single submitter amelocerebrohypohidrotic syndrome
c.46-12T>A Single submitter amelocerebrohypohidrotic syndrome
c.46-13G>T Single submitter amelocerebrohypohidrotic syndrome
c.46-14G>C Single submitter amelocerebrohypohidrotic syndrome
c.46-14G>T Single submitter amelocerebrohypohidrotic syndrome
c.46-15G>A Single submitter amelocerebrohypohidrotic syndrome
c.46-18G>T Single submitter amelocerebrohypohidrotic syndrome
c.46-20C>T Single submitter amelocerebrohypohidrotic syndrome
c.46-27_46-18dup Single submitter amelocerebrohypohidrotic syndrome
c.46-35_46-28dup Single submitter
c.46-4G>A Single submitter amelocerebrohypohidrotic syndrome
c.46-4G>T Single submitter amelocerebrohypohidrotic syndrome
c.46-6C>T Single submitter amelocerebrohypohidrotic syndrome
c.46-7C>T Single submitter amelocerebrohypohidrotic syndrome
c.531+10C>T Single submitter amelocerebrohypohidrotic syndrome
c.531+11C>T Single submitter amelocerebrohypohidrotic syndrome
c.531+13G>A Single submitter amelocerebrohypohidrotic syndrome
c.531+14C>T Single submitter amelocerebrohypohidrotic syndrome
c.531+20C>T Single submitter amelocerebrohypohidrotic syndrome
c.532-11G>A Single submitter amelocerebrohypohidrotic syndrome
c.532-17C>T Single submitter amelocerebrohypohidrotic syndrome
c.532-5C>T Single submitter amelocerebrohypohidrotic syndrome
c.532-7C>T Single submitter amelocerebrohypohidrotic syndrome
c.645+12C>T Single submitter amelocerebrohypohidrotic syndrome
c.645+13C>T Single submitter amelocerebrohypohidrotic syndrome
c.645+14C>T Single submitter amelocerebrohypohidrotic syndrome
c.645+15C>T Single submitter amelocerebrohypohidrotic syndrome
c.645+20C>T Single submitter amelocerebrohypohidrotic syndrome
c.645+7_645+9del Single submitter amelocerebrohypohidrotic syndrome
c.645+8G>A Single submitter amelocerebrohypohidrotic syndrome
c.646-16G>A Single submitter amelocerebrohypohidrotic syndrome
c.646-16G>T Single submitter amelocerebrohypohidrotic syndrome
c.646-19C>G Single submitter amelocerebrohypohidrotic syndrome
c.646-6C>T Single submitter amelocerebrohypohidrotic syndrome
c.646-9T>C Single submitter amelocerebrohypohidrotic syndrome
c.695+15G>A Single submitter amelocerebrohypohidrotic syndrome
c.695+16C>T Single submitter amelocerebrohypohidrotic syndrome
c.695+17G>A Single submitter amelocerebrohypohidrotic syndrome
c.695+17G>C Single submitter amelocerebrohypohidrotic syndrome
c.695+17G>T Single submitter amelocerebrohypohidrotic syndrome
c.695+7A>G Single submitter amelocerebrohypohidrotic syndrome
c.695+9G>A Single submitter amelocerebrohypohidrotic syndrome
c.696-10C>T Single submitter amelocerebrohypohidrotic syndrome
c.696-15T>G Single submitter amelocerebrohypohidrotic syndrome
c.696-16C>T Single submitter amelocerebrohypohidrotic syndrome
c.696-18C>A Single submitter amelocerebrohypohidrotic syndrome
c.696-19A>C Single submitter
c.696-20G>A Single submitter amelocerebrohypohidrotic syndrome
c.696-26_696-14del Single submitter amelocerebrohypohidrotic syndrome
c.696-5C>T Single submitter amelocerebrohypohidrotic syndrome
c.822+13C>G Single submitter amelocerebrohypohidrotic syndrome
c.822+13C>T Single submitter amelocerebrohypohidrotic syndrome
c.822+14G>T Single submitter amelocerebrohypohidrotic syndrome
c.822+18G>A Single submitter amelocerebrohypohidrotic syndrome
c.822+19C>T Single submitter amelocerebrohypohidrotic syndrome
c.823-14C>G Single submitter amelocerebrohypohidrotic syndrome
c.823-14C>T Single submitter amelocerebrohypohidrotic syndrome
c.823-19G>A Single submitter amelocerebrohypohidrotic syndrome
c.823-19G>C Single submitter amelocerebrohypohidrotic syndrome
c.823-20A>G Single submitter amelocerebrohypohidrotic syndrome
c.823-4G>A Single submitter amelocerebrohypohidrotic syndrome
c.823-8C>G Single submitter amelocerebrohypohidrotic syndrome
c.823-8C>T Single submitter amelocerebrohypohidrotic syndrome
c.823-9C>T Single submitter amelocerebrohypohidrotic syndrome
p.Ala10Gly Single submitter amelocerebrohypohidrotic syndrome
p.Ala116= Single submitter amelocerebrohypohidrotic syndrome
p.Ala140= Single submitter amelocerebrohypohidrotic syndrome
p.Ala164= Single submitter amelocerebrohypohidrotic syndrome
p.Ala220= Single submitter amelocerebrohypohidrotic syndrome
p.Ala257= Single submitter amelocerebrohypohidrotic syndrome
p.Ala6= Single submitter amelocerebrohypohidrotic syndrome
p.Ala7= Single submitter amelocerebrohypohidrotic syndrome
p.Ala9= Single submitter amelocerebrohypohidrotic syndrome
p.Arg103= Single submitter amelocerebrohypohidrotic syndrome
p.Arg12= Single submitter amelocerebrohypohidrotic syndrome
p.Arg178= Single submitter amelocerebrohypohidrotic syndrome
p.Arg20= Single submitter amelocerebrohypohidrotic syndrome
p.Arg238= Single submitter amelocerebrohypohidrotic syndrome
p.Arg44= Single submitter amelocerebrohypohidrotic syndrome
p.Arg93= Single submitter amelocerebrohypohidrotic syndrome
p.Asn60= Single submitter amelocerebrohypohidrotic syndrome
p.Asp147= Single submitter amelocerebrohypohidrotic syndrome
p.Asp187= Single submitter amelocerebrohypohidrotic syndrome
p.Asp25= Single submitter amelocerebrohypohidrotic syndrome
p.Asp256= Single submitter amelocerebrohypohidrotic syndrome
p.Asp273= Single submitter amelocerebrohypohidrotic syndrome
p.Asp69= Single submitter amelocerebrohypohidrotic syndrome
p.Gln111= Single submitter amelocerebrohypohidrotic syndrome
p.Gln135= Single submitter
p.Gln266= Single submitter amelocerebrohypohidrotic syndrome
p.Glu141= Single submitter
p.Glu16= Single submitter amelocerebrohypohidrotic syndrome
p.Gly175= Single submitter amelocerebrohypohidrotic syndrome
p.Gly222= Single submitter amelocerebrohypohidrotic syndrome
p.Gly229= Single submitter amelocerebrohypohidrotic syndrome
p.Gly235= Single submitter
p.Gly54= Single submitter amelocerebrohypohidrotic syndrome
p.Gly79= Single submitter amelocerebrohypohidrotic syndrome
p.His119= Single submitter amelocerebrohypohidrotic syndrome
p.His207= Single submitter amelocerebrohypohidrotic syndrome
p.His243= Single submitter amelocerebrohypohidrotic syndrome
p.His245= Single submitter amelocerebrohypohidrotic syndrome
p.Ile171= Single submitter amelocerebrohypohidrotic syndrome
p.Ile275= Single submitter amelocerebrohypohidrotic syndrome
p.Ile37= Single submitter amelocerebrohypohidrotic syndrome
p.Ile62= Single submitter amelocerebrohypohidrotic syndrome
p.Leu143= Single submitter amelocerebrohypohidrotic syndrome
p.Leu145= Single submitter amelocerebrohypohidrotic syndrome
p.Leu151= Single submitter amelocerebrohypohidrotic syndrome
p.Leu160= Single submitter amelocerebrohypohidrotic syndrome
p.Leu166= Single submitter amelocerebrohypohidrotic syndrome
p.Leu176= Single submitter amelocerebrohypohidrotic syndrome
p.Leu196= Single submitter amelocerebrohypohidrotic syndrome
p.Leu199= Single submitter amelocerebrohypohidrotic syndrome
p.Leu206= Single submitter amelocerebrohypohidrotic syndrome
p.Leu209= Single submitter amelocerebrohypohidrotic syndrome
p.Leu225= Single submitter amelocerebrohypohidrotic syndrome
p.Leu254= Single submitter amelocerebrohypohidrotic syndrome
p.Leu258= Single submitter amelocerebrohypohidrotic syndrome
p.Leu267= Single submitter amelocerebrohypohidrotic syndrome
p.Leu271= Single submitter
p.Leu31= Single submitter amelocerebrohypohidrotic syndrome
p.Leu34= Single submitter amelocerebrohypohidrotic syndrome
p.Leu38= Single submitter amelocerebrohypohidrotic syndrome
p.Leu43= Single submitter amelocerebrohypohidrotic syndrome
p.Leu47= Single submitter amelocerebrohypohidrotic syndrome
p.Leu77= Single submitter amelocerebrohypohidrotic syndrome
p.Leu89= Single submitter amelocerebrohypohidrotic syndrome
p.Leu98= Single submitter amelocerebrohypohidrotic syndrome
p.Lys106= Single submitter
p.Lys32= Single submitter amelocerebrohypohidrotic syndrome
p.Phe100= Single submitter amelocerebrohypohidrotic syndrome
p.Phe102= Single submitter amelocerebrohypohidrotic syndrome
p.Phe217= Single submitter amelocerebrohypohidrotic syndrome
p.Pro252= Single submitter amelocerebrohypohidrotic syndrome
p.Pro286= Single submitter amelocerebrohypohidrotic syndrome
p.Pro55= Single submitter amelocerebrohypohidrotic syndrome
p.Pro92= Single submitter amelocerebrohypohidrotic syndrome
p.Ser129= Single submitter amelocerebrohypohidrotic syndrome
p.Ser186= Single submitter amelocerebrohypohidrotic syndrome
p.Ser227= Single submitter amelocerebrohypohidrotic syndrome
p.Ser279= Single submitter amelocerebrohypohidrotic syndrome
p.Ser50= Single submitter amelocerebrohypohidrotic syndrome
p.Ser83= Single submitter amelocerebrohypohidrotic syndrome
p.Thr162= Single submitter amelocerebrohypohidrotic syndrome
p.Thr167= Single submitter amelocerebrohypohidrotic syndrome
p.Thr3= Single submitter amelocerebrohypohidrotic syndrome
p.Thr52= Single submitter amelocerebrohypohidrotic syndrome
p.Thr76= Single submitter amelocerebrohypohidrotic syndrome
p.Thr8= Single submitter
p.Tyr125= Single submitter amelocerebrohypohidrotic syndrome
p.Tyr204= Single submitter amelocerebrohypohidrotic syndrome
p.Tyr284= Single submitter amelocerebrohypohidrotic syndrome
p.Val120= Single submitter amelocerebrohypohidrotic syndrome
p.Val14= Single submitter amelocerebrohypohidrotic syndrome
p.Val149= Single submitter amelocerebrohypohidrotic syndrome
p.Val190= Single submitter amelocerebrohypohidrotic syndrome
p.Val247= Single submitter amelocerebrohypohidrotic syndrome
p.Val259= Single submitter amelocerebrohypohidrotic syndrome
p.Val263= Single submitter amelocerebrohypohidrotic syndrome
p.Val277= Single submitter amelocerebrohypohidrotic syndrome
p.Val74= Single submitter amelocerebrohypohidrotic syndrome
p.Val87= Single submitter amelocerebrohypohidrotic syndrome
c.46-27G>A No assertion criteria ROGDI-related disorder
c.46-33_46-31dup No assertion criteria ROGDI-related disorder

Uncertain significance 259

c.336+3G>A Multiple submitters Inborn genetic diseases
p.Ala101Gly Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Ala156Val Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Ala164Thr Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Ala173Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala220Ser Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Ala220Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala223Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala257Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala29Thr Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Ala2Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala7Glu Multiple submitters Inborn genetic diseases ⚠
p.Ala85Val Multiple submitters amelocerebrohypohidrotic syndrome
p.Arg103Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg12Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg130Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg157Gln Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Arg178Leu Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Arg178Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg218His Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Arg93Gln Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Arg93Trp Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Asn195Ser Multiple submitters Inborn genetic diseases ⚠
p.Asn255Lys Multiple submitters Inborn genetic diseases ⚠
p.Asp115Gly Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Asp187Asn Multiple submitters amelocerebrohypohidrotic syndrome
p.Gln107Glu Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Gln58Glu Multiple submitters Inborn genetic diseases ⚠
p.Glu170Lys Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Glu233Lys Multiple submitters Inborn genetic diseases ⚠
p.Gly175Ser Multiple submitters Inborn genetic diseases ⚠
p.Gly79Arg Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.His226Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile275Met Multiple submitters Inborn genetic diseases ⚠
p.Leu23Pro Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Leu265Arg Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Leu265Met Multiple submitters Inborn genetic diseases
p.Lys106Arg Multiple submitters Inborn genetic diseases ⚠
p.Lys39Asn Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Met231Val Multiple submitters Inborn genetic diseases ⚠
p.Phe261Leu Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Phe287Leu Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Pro185Arg Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Pro185Ser Multiple submitters amelocerebrohypohidrotic syndrome
p.Ser133Gly Multiple submitters Inborn genetic diseases ⚠
p.Ser242Gly Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Ser242Thr Multiple submitters Inborn genetic diseases ⚠
p.Ser280Gly Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Thr162Asn Multiple submitters Inborn genetic diseases ⚠
p.Thr177= Multiple submitters amelocerebrohypohidrotic syndrome
p.Thr177Lys Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Thr68Pro Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Tyr193His Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Val192Ile Multiple submitters Inborn genetic diseases ⚠
p.Val247Glu Multiple submitters Inborn genetic diseases ⚠
p.Val250Leu Multiple submitters amelocerebrohypohidrotic syndrome ⚠
p.Val263Ile Multiple submitters Inborn genetic diseases ⚠
p.Val277Met Multiple submitters amelocerebrohypohidrotic syndrome ⚠
c.117+5C>G Single submitter amelocerebrohypohidrotic syndrome
c.117+5C>T Single submitter amelocerebrohypohidrotic syndrome
c.117+6_117+7delinsAT Single submitter amelocerebrohypohidrotic syndrome
c.118-10T>A Single submitter amelocerebrohypohidrotic syndrome
c.118-3C>T Single submitter amelocerebrohypohidrotic syndrome
c.336+5C>T Single submitter amelocerebrohypohidrotic syndrome
c.337-16T>A Single submitter amelocerebrohypohidrotic syndrome
c.433-6C>G Single submitter amelocerebrohypohidrotic syndrome
c.46-5C>G Single submitter amelocerebrohypohidrotic syndrome
c.531+5G>A Single submitter amelocerebrohypohidrotic syndrome
c.531+5G>T Single submitter amelocerebrohypohidrotic syndrome
c.645+3G>A Single submitter amelocerebrohypohidrotic syndrome
c.645+4A>C Single submitter amelocerebrohypohidrotic syndrome
c.646-6C>G Single submitter amelocerebrohypohidrotic syndrome
c.695+5G>A Single submitter amelocerebrohypohidrotic syndrome
c.695+6T>C Single submitter amelocerebrohypohidrotic syndrome
c.823-3C>T Single submitter amelocerebrohypohidrotic syndrome
c.-127C>T Single submitter amelocerebrohypohidrotic syndrome
c.-131C>G Single submitter amelocerebrohypohidrotic syndrome
c.-181G>A Single submitter amelocerebrohypohidrotic syndrome
c.-325G>C Single submitter amelocerebrohypohidrotic syndrome
c.-338C>T Single submitter amelocerebrohypohidrotic syndrome
c.-342C>A Single submitter amelocerebrohypohidrotic syndrome
c.-379T>C Single submitter amelocerebrohypohidrotic syndrome
c.-68G>C Single submitter amelocerebrohypohidrotic syndrome
c.-69C>T Single submitter amelocerebrohypohidrotic syndrome
c.-74A>C Single submitter amelocerebrohypohidrotic syndrome
c.-89G>T Single submitter amelocerebrohypohidrotic syndrome
c.*112C>T Single submitter amelocerebrohypohidrotic syndrome
c.*208G>A Single submitter amelocerebrohypohidrotic syndrome
c.*246G>A Single submitter amelocerebrohypohidrotic syndrome
c.*24C>T Single submitter amelocerebrohypohidrotic syndrome
c.*298G>A Single submitter amelocerebrohypohidrotic syndrome
c.*355G>T Single submitter amelocerebrohypohidrotic syndrome
c.*44C>G Single submitter amelocerebrohypohidrotic syndrome
c.*451C>G Single submitter amelocerebrohypohidrotic syndrome
c.*454G>A Single submitter amelocerebrohypohidrotic syndrome
c.*54C>G Single submitter amelocerebrohypohidrotic syndrome
p.Ala116Gly Single submitter amelocerebrohypohidrotic syndrome
p.Ala123Thr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala140Thr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala181Thr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala183Val Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala208Val Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala220Gly Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala223Ser Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala29Gly Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala29Pro Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala29Val Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala2Val Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala56Ser Single submitter Inborn genetic diseases ⚠
p.Ala6Ser Single submitter Inborn genetic diseases ⚠
p.Ala7Thr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ala9Thr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Arg117Gly Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Arg12Leu Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Arg130Pro Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Arg130Trp Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Arg155Ser Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Arg157Gly Single submitter Inborn genetic diseases ⚠
p.Arg178Gln Single submitter ⚠
p.Arg218Cys Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Arg238Cys Single submitter amelocerebrohypohidrotic syndrome
p.Asn191Thr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Asn195Ile Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Asn197Lys Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Asn197Ser Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Asn60Asp Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Asp105Asn Single submitter amelocerebrohypohidrotic syndrome
p.Asp131Ala Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Asp131His Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Asp187His Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Asp256Asn Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Asp25Glu Single submitter ⚠
p.Asp273Glu Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Asp69Glu Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Asp69Tyr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Asp69Val Single submitter Inborn genetic diseases ⚠
p.Asp86Val Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Cys200Phe Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Cys66Tyr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Gln205His Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Gln266Arg Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Gln269Glu Single submitter Inborn genetic diseases ⚠
p.Gln269Lys Single submitter Inborn genetic diseases ⚠
p.Gln269Ter Single submitter amelocerebrohypohidrotic syndrome
p.Gln35Pro Single submitter ⚠
p.Gln78His Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Glu104Lys Single submitter Inborn genetic diseases ⚠
p.Glu11Lys Single submitter Inborn genetic diseases ⚠
p.Glu141Asp Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Glu141Lys Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Glu16Gln Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Glu17Lys Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Glu233fs Single submitter amelocerebrohypohidrotic syndrome
p.Glu248Gln Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Glu26Asp Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Glu26Gln Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Glu40Asp Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Glu53Gly Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Gly139Asp Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Gly139Ser Single submitter ⚠
p.Gly221Arg Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Gly221Trp Single submitter Inborn genetic diseases ⚠
p.Gly222Asp Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Gly49Asp Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Gly51Ser Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Gly64Ser Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Gly73Ala Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Gly79Glu Single submitter Inborn genetic diseases ⚠
p.His119Arg Single submitter amelocerebrohypohidrotic syndrome ⚠
p.His207Arg Single submitter amelocerebrohypohidrotic syndrome ⚠
p.His243Asp Single submitter amelocerebrohypohidrotic syndrome ⚠
p.His245Arg Single submitter amelocerebrohypohidrotic syndrome
p.His28Pro Single submitter amelocerebrohypohidrotic syndrome ⚠
p.His28Tyr Single submitter amelocerebrohypohidrotic syndrome
p.His99Arg Single submitter amelocerebrohypohidrotic syndrome ⚠
p.His99Tyr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ile194Val Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ile251Val Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ile37Val Single submitter Inborn genetic diseases ⚠
p.Ile62Met Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Leu143Phe Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Leu168His Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Leu188Val Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Leu196Phe Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Leu199Phe Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Leu206Val Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Leu271Phe Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Leu38Arg Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Leu38Val Single submitter amelocerebrohypohidrotic syndrome
p.Leu82His Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Leu89Met Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Lys106Asn Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Lys109Asn Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Lys109Glu Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Lys144Glu Single submitter Inborn genetic diseases ⚠
p.Lys39= Single submitter amelocerebrohypohidrotic syndrome
p.Lys72Arg Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Met146Leu Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Met1Thr Single submitter amelocerebrohypohidrotic syndrome
p.Met1Val Single submitter amelocerebrohypohidrotic syndrome
p.Met231Thr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Met5Thr Single submitter ⚠
p.Phe100Leu Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Phe102Ser Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Phe136Leu Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Phe232Ser Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Pro169_Glu170insAlaThrLeuThrLeuPro Single submitter
p.Pro185Leu Single submitter Inborn genetic diseases ⚠
p.Pro211Thr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Pro252Arg Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Pro252Thr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Pro286Ala Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Pro55Ser Single submitter Inborn genetic diseases ⚠
p.Pro92Thr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ser213Ala Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ser236Cys Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ser242Cys Single submitter Inborn genetic diseases ⚠
p.Ser279Cys Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ser279Phe Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ser280Ile Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ser42Phe Single submitter Inborn genetic diseases ⚠
p.Ser50Cys Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ser50Pro Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ser65Arg Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Ser65Thr Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Thr138Arg Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Thr138Met Single submitter amelocerebrohypohidrotic syndrome
p.Thr162Ile Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Thr167Ala Single submitter Inborn genetic diseases ⚠
p.Thr177Met Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Thr202Arg Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Thr202Met Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Thr262Ile Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Thr262Ser Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Thr46Ser Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Thr52Ala Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Thr52Ile Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Trp21Cys Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Trp234Gly Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Trp282Arg Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Tyr125Ser Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Tyr134Ser Single submitter Inborn genetic diseases
p.Tyr193Phe Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Tyr193Ser Single submitter amelocerebrohypohidrotic syndrome
p.Tyr284Cys Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Val142Phe Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Val149Leu Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Val190Ala Single submitter amelocerebrohypohidrotic syndrome
p.Val192Asp Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Val203Leu Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Val203Met Single submitter ⚠
p.Val244Met Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Val250Met Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Val259_Leu265dup Single submitter amelocerebrohypohidrotic syndrome
p.Val259Ile Single submitter Inborn genetic diseases ⚠
p.Val277Leu Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Val30Leu Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Val4Glu Single submitter amelocerebrohypohidrotic syndrome ⚠
p.Val87Gly Single submitter amelocerebrohypohidrotic syndrome ⚠