PDE4D — 659 ClinVar variants
All ClinVar germline PDE4D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 199 flagged for review →
13 Pathogenic · 14 Likely pathogenic · 18 Conflicting · 138 Benign · 18 Benign/Likely benign · 170 Likely benign · 288 Uncertain significance
Full PDE4D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 199
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 10
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PDE4D p.Arg208Trp
Conflicting
Single submitter
Inborn genetic diseases
-
PDE4D p.Arg418Trp
Conflicting
Single submitter
Inborn genetic diseases
-
PDE4D p.Ile222Thr
Conflicting
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Met303Thr Conflicting Single submitter
-
PDE4D p.Met588Val
Conflicting
Single submitter
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Pro165Ser
Conflicting
Single submitter
Inborn genetic diseases
-
PDE4D p.Pro261Thr
Conflicting
Single submitter
Inborn genetic diseases
-
PDE4D p.Pro42Gln
Conflicting
Single submitter
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Thr224Ile
Conflicting
Single submitter
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Val756Ala
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 151
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 151
-
PDE4D p.Arg151Gly
Uncertain significance
Multiple submitters
PDE4D-related disorder
-
PDE4D p.Arg249Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDE4D p.Asn264Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDE4D p.Asn463Ser
Uncertain significance
Multiple submitters
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
-
PDE4D p.Asn526Ser
Uncertain significance
Multiple submitters
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Asp432Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDE4D p.His217Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDE4D p.Ile427Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDE4D p.Leu284Pro Uncertain significance Multiple submitters
-
PDE4D p.Pro87Leu
Uncertain significance
Multiple submitters
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Ser752Asn Uncertain significance Multiple submitters
-
PDE4D p.Ser754Gly
Uncertain significance
Multiple submitters
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Thr748Met
Uncertain significance
Multiple submitters
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Val789Glu
Uncertain significance
Multiple submitters
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Ala127Val Uncertain significance Single submitter
- PDE4D p.Ala227Val Uncertain significance Single submitter
-
PDE4D p.Ala250Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Ala28Val Uncertain significance Single submitter
- PDE4D p.Ala583Val Uncertain significance Single submitter
- PDE4D p.Ala665Asp Uncertain significance Single submitter
- PDE4D p.Ala694Thr Uncertain significance Single submitter
-
PDE4D p.Ala799Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Ala8Glu Uncertain significance Single submitter
- PDE4D p.Ala8Ser Uncertain significance Single submitter
- PDE4D p.Ala96Thr Uncertain significance Single submitter
- PDE4D p.Arg119Pro Uncertain significance Single submitter
- PDE4D p.Arg11Gln Uncertain significance Single submitter
- PDE4D p.Arg11Trp Uncertain significance Single submitter
- PDE4D p.Arg188Gln Uncertain significance Single submitter
- PDE4D p.Arg208Gln Uncertain significance Single submitter
- PDE4D p.Arg234Gln Uncertain significance Single submitter
- PDE4D p.Arg234Leu Uncertain significance Single submitter
- PDE4D p.Arg324Gln Uncertain significance Single submitter
-
PDE4D p.Arg431Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Arg632Cys Uncertain significance Single submitter
- PDE4D p.Arg92Ser Uncertain significance Single submitter
- PDE4D p.Arg94Ser Uncertain significance Single submitter
- PDE4D p.Asn623Ser Uncertain significance Single submitter
-
PDE4D p.Asn664Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE4D p.Asp196Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Asp458His Uncertain significance Single submitter
- PDE4D p.Asp607Asn Uncertain significance Single submitter
- PDE4D p.Asp696Val Uncertain significance Single submitter
-
PDE4D p.Asp743Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE4D p.Asp772Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Asp781Asn Uncertain significance Single submitter
-
PDE4D p.Cys800Phe
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Gln328Pro
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Gln390Glu Uncertain significance Single submitter
- PDE4D p.Gln47Arg Uncertain significance Single submitter
-
PDE4D p.Gln610Lys
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Gln755Lys Uncertain significance Single submitter
- PDE4D p.Glu129Ala Uncertain significance Single submitter
- PDE4D p.Glu270Asp Uncertain significance Single submitter
- PDE4D p.Glu279Ala Uncertain significance Single submitter
-
PDE4D p.Glu279Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Glu343Asp Uncertain significance Single submitter
- PDE4D p.Glu389Asp Uncertain significance Single submitter
- PDE4D p.Glu546Asp Uncertain significance Single submitter
-
PDE4D p.Glu724Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE4D p.Glu785Asp
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Gly131Arg Uncertain significance Single submitter
- PDE4D p.Gly15Arg Uncertain significance Single submitter
- PDE4D p.Gly175Ala Uncertain significance Single submitter
- PDE4D p.Gly23Arg Uncertain significance Single submitter
-
PDE4D p.Gly416Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Gly726Asp Uncertain significance Single submitter
- PDE4D p.Gly89Arg Uncertain significance Single submitter
- PDE4D p.Gly89Glu Uncertain significance Single submitter
- PDE4D p.Gly93Ser Uncertain significance Single submitter
-
PDE4D p.His184Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.His38Arg Uncertain significance Single submitter
-
PDE4D p.His425Pro
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Ile263Val Uncertain significance Single submitter
-
PDE4D p.Ile445Val
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Ile496Thr Uncertain significance Single submitter
-
PDE4D p.Ile501Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE4D p.Ile656Met
Uncertain significance
Single submitter
PDE4D-related disorder
-
PDE4D p.Ile678Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Leu150Phe Uncertain significance Single submitter
- PDE4D p.Leu192Gln Uncertain significance Single submitter
-
PDE4D p.Leu221Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE4D p.Leu288Pro
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Leu316Phe
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Leu478Ser Uncertain significance Single submitter
- PDE4D p.Leu50Phe Uncertain significance Single submitter
- PDE4D p.Leu600Phe Uncertain significance Single submitter
-
PDE4D p.Leu602Phe
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Leu768Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE4D p.Lys138Glu
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Lys27Arg Uncertain significance Single submitter
-
PDE4D p.Lys30Arg
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Met121Val Uncertain significance Single submitter
- PDE4D p.Met206Lys Uncertain significance Single submitter
-
PDE4D p.Met424Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Met588Ile Uncertain significance Single submitter
- PDE4D p.Phe191Val Uncertain significance Single submitter
- PDE4D p.Phe308Leu Uncertain significance Single submitter
-
PDE4D p.Pro168Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Pro59Leu Uncertain significance Single submitter
- PDE4D p.Pro658His Uncertain significance Single submitter
- PDE4D p.Pro67Ser Uncertain significance Single submitter
-
PDE4D p.Pro692Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Pro69Leu Uncertain significance Single submitter
- PDE4D p.Pro69Ser Uncertain significance Single submitter
-
PDE4D p.Pro720Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE4D p.Pro807Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Pro80Ser Uncertain significance Single submitter
- PDE4D p.Pro83Leu Uncertain significance Single submitter
- PDE4D p.Ser14Arg Uncertain significance Single submitter
- PDE4D p.Ser185Asn Uncertain significance Single submitter
- PDE4D p.Ser18Arg Uncertain significance Single submitter
- PDE4D p.Ser190Tyr Uncertain significance Single submitter
-
PDE4D p.Ser232Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Ser301Arg Uncertain significance Single submitter
-
PDE4D p.Ser320Cys
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Ser323Ile Uncertain significance Single submitter
- PDE4D p.Ser325Phe Uncertain significance Single submitter
-
PDE4D p.Ser334Pro
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Ser362Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE4D p.Ser519Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Ser64Leu Uncertain significance Single submitter
-
PDE4D p.Ser715Ile
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Ser7Gly Uncertain significance Single submitter
- PDE4D p.Ser98Arg Uncertain significance Single submitter
- PDE4D p.Thr130Ser Uncertain significance Single submitter
-
PDE4D p.Thr159Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Thr25Ala Uncertain significance Single submitter
- PDE4D p.Thr293Ile Uncertain significance Single submitter
-
PDE4D p.Thr336Ala
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Thr446Ile Uncertain significance Single submitter
- PDE4D p.Thr625Ala Uncertain significance Single submitter
- PDE4D p.Thr635Lys Uncertain significance Single submitter
- PDE4D p.Thr731Ile Uncertain significance Single submitter
- PDE4D p.Thr760Pro Uncertain significance Single submitter
- PDE4D p.Thr809Met Uncertain significance Single submitter
- PDE4D p.Tyr41His Uncertain significance Single submitter
-
PDE4D p.Tyr447His
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Tyr677Asp Uncertain significance Single submitter
- PDE4D p.Tyr677Cys Uncertain significance Single submitter
- PDE4D p.Val128Ala Uncertain significance Single submitter
-
PDE4D p.Val223Glu
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Val223Met Uncertain significance Single submitter
- PDE4D p.Val229Phe Uncertain significance Single submitter
- PDE4D p.Val530Ala Uncertain significance Single submitter
-
PDE4D p.Val594Leu
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Val667Met
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Val784Leu Uncertain significance Single submitter
- PDE4D p.Val789Ala Uncertain significance Single submitter
-
PDE4D p.Val789Ile
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 38
The independent predictors disagree with each other — read with care.
- PDE4D p.Arg133Trp Uncertain significance Multiple submitters
-
PDE4D p.Arg727Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDE4D p.Asp167Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDE4D p.Gln351Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PDE4D p.Ile346Met
Uncertain significance
Multiple submitters
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Pro79Ser
Uncertain significance
Multiple submitters
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Ser499Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PDE4D p.Arg133Gln Uncertain significance Single submitter
- PDE4D p.Arg152Leu Uncertain significance Single submitter
- PDE4D p.Arg644Cys Conflicting Single submitter
- PDE4D p.Arg644His Likely benign Single submitter
- PDE4D p.Arg648Gln Uncertain significance Single submitter
-
PDE4D p.Arg652His
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Asn238Tyr Uncertain significance Single submitter
- PDE4D p.Asn464Lys Uncertain significance Single submitter
- PDE4D p.Asp111Asn Uncertain significance Single submitter
- PDE4D p.Asp122Tyr Uncertain significance Single submitter
-
PDE4D p.Asp751His
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE4D p.Gln429Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE4D p.Gln552Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PDE4D p.Ile333Val
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Ile411Met Uncertain significance Single submitter
- PDE4D p.Ile569Val Uncertain significance Single submitter
-
PDE4D p.Lys592Gln
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Met206Ile Uncertain significance Single submitter
- PDE4D p.Pro144Leu Uncertain significance Single submitter
-
PDE4D p.Pro144Ser
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Pro78Arg Uncertain significance Single submitter
- PDE4D p.Pro79Arg Uncertain significance Single submitter
- PDE4D p.Pro79His Uncertain significance Single submitter
- PDE4D p.Pro82Gln Uncertain significance Single submitter
-
PDE4D p.Ser185Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- PDE4D p.Ser415Cys Uncertain significance Single submitter
- PDE4D p.Thr388Ser Uncertain significance Single submitter
-
PDE4D p.Thr700Ala
Uncertain significance
Single submitter
acrodysostosis 2 with or without hormone resistance
- PDE4D p.Val599Ile Uncertain significance Single submitter
-
PDE4D p.Ala304Val
Pathogenic
No assertion criteria
acrodysostosis 2 with or without hormone resistance
-
PDE4D p.Asn417Ser
Uncertain significance
No assertion criteria
PDE4D-related disorder
All PDE4D variants
Pathogenic 13
- p.Ile678Thr Multiple submitters PDE4D-related disorder
- p.Pro225Leu Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Gln228Glu Single submitter acrodysostosis 2 with or without hormone resistance
- p.Ile333Thr Single submitter acrodysostosis 2 with or without hormone resistance
- p.Leu294Arg Single submitter
- p.Leu319Pro Single submitter
- p.Ala304Val No assertion criteria acrodysostosis 2 with or without hormone resistance ⚠
- p.Glu651Ala No assertion criteria acrodysostosis 2 with or without hormone resistance
- p.Phe226Cys No assertion criteria acrodysostosis 2 with or without hormone resistance
- p.Phe226Ser No assertion criteria acrodysostosis 2 with or without hormone resistance
- p.Pro225Thr No assertion criteria acrodysostosis 2 with or without hormone resistance
- p.Ser190Ala No assertion criteria acrodysostosis 2 with or without hormone resistance
- p.Thr587Pro No assertion criteria acrodysostosis 2 with or without hormone resistance
Likely pathogenic 14
- p.Ala227Ser Single submitter PDE4D-related disorder
- p.Glu331_Phe332del Single submitter
- p.Glu684Gly Single submitter acrodysostosis 2 with or without hormone resistance
- p.Gly673Asp Single submitter acrodysostosis 2 with or without hormone resistance
- p.Leu192Pro Single submitter
- p.Leu312Pro Single submitter acrodysostosis 2 with or without hormone resistance
- p.Leu316His Single submitter acrodysostosis 2 with or without hormone resistance
- p.Phe337Cys Single submitter
- p.Pro225Ser Single submitter metaphyseal acroscyphodysplasia
- p.Ser190Phe Single submitter acrodysostosis 2 with or without hormone resistance
- p.Ser299Tyr Single submitter
- p.Ser301Thr Single submitter PDE4D-related disorder
- p.Thr595Pro Single submitter PDE4D-related disorder
- p.Tyr605Cys Single submitter
Conflicting classifications of pathogenicity 18
- c.1189-4C>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2100C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2747G>A Single submitter acrodysostosis 2 with or without hormone resistance
- p.Arg208Trp Single submitter Inborn genetic diseases ⚠
- p.Arg418Trp Single submitter Inborn genetic diseases ⚠
- p.Arg644Cys Single submitter ⚠
- p.Gly753= Single submitter acrodysostosis 2 with or without hormone resistance
- p.Ile222Thr Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Leu514= Single submitter acrodysostosis 2 with or without hormone resistance
- p.Leu81_Pro85del Single submitter
- p.Leu81_Pro85dup Single submitter Inborn genetic diseases
- p.Met303Thr Single submitter ⚠
- p.Met588Val Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Pro165Ser Single submitter Inborn genetic diseases ⚠
- p.Pro261Thr Single submitter Inborn genetic diseases ⚠
- p.Pro42Gln Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Thr224Ile Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Val756Ala Single submitter Inborn genetic diseases ⚠
Benign 138
- c.1015+153C>A Multiple submitters
- c.1189-107T>C Multiple submitters
- c.1189-9dup Multiple submitters
- c.1287+17C>G Multiple submitters
- c.1287+6G>A Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.1452+8T>C Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.1453-55T>A Multiple submitters
- c.1552+112G>A Multiple submitters
- c.1552+37C>T Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.1708-62G>A Multiple submitters
- c.1830+61C>T Multiple submitters
- c.1831-30G>A Multiple submitters
- c.1831-47A>T Multiple submitters
- c.272+245C>A Multiple submitters
- c.272+299G>A Multiple submitters
- c.272+94610T>C Multiple submitters
- c.455+306665G>A Multiple submitters
- c.455+306892G>A Multiple submitters
- c.455+31G>A Multiple submitters
- c.455+42A>G Multiple submitters
- c.456-59823T>C Multiple submitters
- c.456-59944C>A Multiple submitters
- c.456-60121C>T Multiple submitters
- c.456-60207T>C Multiple submitters
- c.647+100C>G Multiple submitters
- c.647+102C>T Multiple submitters
- c.648-22C>T Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.684+108C>T Multiple submitters
- c.808+134C>A Multiple submitters
- c.808+189C>T Multiple submitters
- c.808+196C>T Multiple submitters
- c.808+304A>G Multiple submitters
- c.809-350G>A Multiple submitters
- c.809-494C>A Multiple submitters
- c.809-757G>A Multiple submitters
- c.921+41T>C Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.922-42T>C Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.922-6102TA[8] Multiple submitters
- c.*1251A>G Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*1638G>A Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*1773A>G Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*1938C>T Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*2279G>T Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*2288A>G Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*2484T>C Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*2515A>T Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*2768T>G Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*2934G>A Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*3214T>A Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*3349T>A Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*4001C>G Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*4039G>T Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*4398T>G Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*4915C>T Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*4965G>T Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*5118T>G Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*5125C>T Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*5241T>C Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.*5260T>C Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Val801Ile Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.1016-173C>T Single submitter
- c.1188+103_1188+104del Single submitter
- c.1188+103_1188+105del Single submitter
- c.1189-138C>A Single submitter
- c.1288-78_1288-77dup Single submitter
- c.1288-78dup Single submitter
- c.1452+156_1452+159del Single submitter
- c.1553-276A>G Single submitter
- c.1707+314T>C Single submitter
- c.1707+8G>T Single submitter
- c.1708-285T>C Single submitter
- c.1831-58dup Single submitter
- c.1831-67_1831-66dup Single submitter
- c.2013+244A>C Single submitter
- c.2014-225del Single submitter
- c.43-153A>G Single submitter
- c.455+11A>T Single submitter
- c.455+230TG[17] Single submitter
- c.455+230TG[18] Single submitter
- c.455+230TG[19] Single submitter
- c.455+230TG[20] Single submitter
- c.455+230TG[22] Single submitter
- c.455+230TG[23] Single submitter
- c.455+306647_455+306648dup Single submitter
- c.455+306647dup Single submitter
- c.455+306662_455+306663dup Single submitter acrodysostosis 2 with or without hormone resistance
- c.455+306834G>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.455+96033dup Single submitter
- c.456-214366G>A Single submitter
- c.456-59999A>G Single submitter
- c.456-60149C>G Single submitter
- c.456-60155del Single submitter
- c.456-60156_456-60155del Single submitter
- c.456-60171T>C Single submitter
- c.456-60175dup Single submitter
- c.647+13del Single submitter
- c.647+189AC[14] Single submitter
- c.647+189AC[16] Single submitter
- c.647+189AC[17] Single submitter
- c.647+189AC[19] Single submitter
- c.647+189AC[20] Single submitter
- c.647+222_647+227del Single submitter
- c.685-201G>A Single submitter
- c.758+17del Single submitter
- c.809-2683A>C Single submitter
- c.922-225T>G Single submitter
- c.922-5722T>C Single submitter
- c.922-5820del Single submitter
- c.922-6099_922-6098insATAC Single submitter
- c.922-6102TA[6] Single submitter
- c.-58G>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.-89-250dup Single submitter
- c.-89-251_-89-250dup Single submitter
- c.*1323A>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1361C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1637C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1850T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2066T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2329G>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2336T>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2510C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*33del Single submitter
- c.*3588A>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*4622G>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*4659T>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*4660C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*466G>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*5304C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*831A>C Single submitter acrodysostosis 2 with or without hormone resistance
- p.Ala161= Single submitter
- p.Ala799Gly Single submitter
- p.Ala90Thr Single submitter
- p.Cys800= Single submitter
- p.Leu451= Single submitter
- p.Lys340= Single submitter
- p.Pro39Thr Single submitter
- p.Thr711= Single submitter
- p.Val128= Single submitter
Benign/Likely benign 18
- c.1189-9del Multiple submitters
- c.1288-8dup Multiple submitters
- c.1552+7A>G Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.456-12C>T Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.456-214326G>A Multiple submitters
- c.808+20T>A Multiple submitters
- c.809-124C>A Multiple submitters
- p.Arg297= Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Arg727Gln Multiple submitters Inborn genetic diseases
- p.Gln351= Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Glu113= Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Glu331= Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Ile802Val Multiple submitters Inborn genetic diseases
- p.Lys564= Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Pro347= Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Thr235= Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Thr809= Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Val104= Multiple submitters
Likely benign 170
- c.1189-7A>T Multiple submitters
- c.1830+107A>G Multiple submitters
- c.1831-7A>G Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.456-214331G>A Multiple submitters
- c.456-214391C>G Multiple submitters
- c.647+6_647+7dup Multiple submitters
- c.647+97A>C Multiple submitters
- c.758+11C>A Multiple submitters acrodysostosis 2 with or without hormone resistance
- c.922-17A>G Multiple submitters
- p.Ala8= Multiple submitters
- p.Arg805His Multiple submitters Inborn genetic diseases
- p.Glu399= Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Leu531= Multiple submitters
- p.Pro42= Multiple submitters
- p.Pro82= Multiple submitters
- p.Pro86= Multiple submitters
- p.Ser666= Multiple submitters Inborn genetic diseases
- p.Thr124= Multiple submitters
- p.Thr25= Multiple submitters
- p.Val393= Multiple submitters
- c.1015+10ACA[3] Single submitter
- c.1015+20A>G Single submitter
- c.1188+19_1188+20insG Single submitter
- c.1189-10_1189-9dup Single submitter
- c.1189-11_1189-9del Single submitter
- c.1189-5T>A Single submitter
- c.1287+16T>C Single submitter
- c.1287+20T>C Single submitter
- c.1287+9G>A Single submitter
- c.1288-11T>G Single submitter
- c.1288-18T>C Single submitter
- c.1453-10G>A Single submitter
- c.1453-10G>C Single submitter
- c.1453-13T>A Single submitter
- c.1552+12_1552+13del Single submitter
- c.1552+14A>G Single submitter
- c.1553-4del Single submitter
- c.1553-5T>C Single submitter
- c.1553-7_1553-5del Single submitter
- c.1707+13T>C Single submitter
- c.1708-10A>G Single submitter
- c.1708-14_1708-10dup Single submitter
- c.1708-152_1708-151del Single submitter
- c.1708-17A>G Single submitter
- c.1708-232A>C Single submitter
- c.1708-7T>C Single submitter
- c.1830+10T>C Single submitter
- c.1830+7C>G Single submitter
- c.1831-58_1831-57dup Single submitter
- c.2013+19A>C Single submitter
- c.42+278G>A Single submitter
- c.455+13C>T Single submitter
- c.455+17C>T Single submitter
- c.455+306663G>T Single submitter
- c.455+7G>A Single submitter
- c.455+96032_455+96033dup Single submitter
- c.456-140775C>A Single submitter
- c.456-140808G>A Single submitter
- c.456-140846G>A Single submitter
- c.456-140846G>C Single submitter
- c.456-19C>A Single submitter
- c.456-59439dup Single submitter
- c.456-59447A>T Single submitter
- c.647+15A>C Single submitter
- c.647+16G>A Single submitter
- c.647+17G>A Single submitter
- c.647+20A>G Single submitter
- c.647+9A>C Single submitter
- c.648-19G>T Single submitter
- c.685-17A>G Single submitter
- c.685-8T>C Single submitter
- c.758+11C>T Single submitter
- c.758+12T>C Single submitter
- c.758+16T>C Single submitter
- c.758+17T>A Single submitter
- c.758+18C>T Single submitter
- c.808+15G>A Single submitter
- c.808+23260C>T Single submitter
- c.808+8A>G Single submitter
- c.808+9G>T Single submitter
- c.809-72C>T Single submitter
- c.921+7C>T Single submitter
- c.922-6004T>C Single submitter
- c.922-6088_922-6087dup Single submitter
- c.922-6102TA[9] Single submitter
- c.922-6104C>T Single submitter
- c.922-6T>C Single submitter
- c.-1G>A Single submitter
- c.-296C>G Single submitter
- c.-31T>C Single submitter
- c.-365C>G Single submitter
- c.-419C>T Single submitter
- c.*33dup Single submitter
- c.*4675G>A Single submitter acrodysostosis 2 with or without hormone resistance
- p.Ala161Val Single submitter
- p.Ala28= Single submitter
- p.Ala498= Single submitter
- p.Ala96= Single submitter
- p.Arg163Gln Single submitter
- p.Arg163Trp Single submitter
- p.Arg637= Single submitter
- p.Arg644His Single submitter ⚠
- p.Arg805Cys Single submitter
- p.Asp215= Single submitter
- p.Asp248= Single submitter
- p.Asp400= Single submitter
- p.Asp693= Single submitter
- p.Asp751= Single submitter
- p.Asp781= Single submitter
- p.Cys762= Single submitter
- p.Cys769= Single submitter
- p.Gln709= Single submitter
- p.Glu271= Single submitter
- p.Glu389= Single submitter
- p.Glu545= Single submitter
- p.Glu640= Single submitter
- p.Glu745Asp Single submitter Inborn genetic diseases
- p.Glu782= Single submitter
- p.Glu786= Single submitter
- p.Gly131= Single submitter
- p.Gly744= Single submitter
- p.His217= Single submitter
- p.His502= Single submitter
- p.His663= Single submitter
- p.Ile268= Single submitter
- p.Leu166= Single submitter
- p.Leu192= Single submitter
- p.Leu26= Single submitter
- p.Leu27Ile Single submitter
- p.Leu376= Single submitter
- p.Leu414= Single submitter
- p.Leu477= Single submitter
- p.Leu51= Single submitter
- p.Leu51Pro Single submitter
- p.Leu523= Single submitter
- p.Leu582= Single submitter
- p.Leu740= Single submitter
- p.Lys403= Single submitter
- p.Lys593= Single submitter
- p.Phe191= Single submitter
- p.Pro134= Single submitter
- p.Pro168= Single submitter
- p.Pro203= Single submitter
- p.Pro53= Single submitter
- p.Pro59= Single submitter
- p.Pro627= Single submitter
- p.Pro72= Single submitter
- p.Pro78= Single submitter
- p.Pro80= Single submitter
- p.Ser145= Single submitter
- p.Ser195= Single submitter
- p.Ser197= Single submitter
- p.Ser205= Single submitter
- p.Ser299= Single submitter
- p.Ser761= Single submitter
- p.Ser97= Single submitter
- p.Thr112= Single submitter
- p.Thr159= Single submitter
- p.Thr446= Single submitter
- p.Thr748= Single submitter
- p.Tyr115= Single submitter
- p.Val155= Single submitter
- p.Val229= Single submitter
- c.12+8T>A No assertion criteria PDE4D-related disorder
- c.43-15573C>T No assertion criteria PDE4D-related disorder
- c.455+306789G>A No assertion criteria PDE4D-related disorder
- c.809-113C>T No assertion criteria PDE4D-related disorder
- c.-2C>A No assertion criteria PDE4D-related disorder
- p.Ala73= No assertion criteria PDE4D-related disorder
- p.Ser746Leu No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 288
- c.1553-1_1555dup Multiple submitters Inborn genetic diseases
- c.*4886A>C Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Arg133Trp Multiple submitters ⚠
- p.Arg151Gly Multiple submitters PDE4D-related disorder ⚠
- p.Arg249Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg727Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn264Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn463Ser Multiple submitters postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome ⚠
- p.Asn526Ser Multiple submitters acrodysostosis 2 with or without hormone resistance ⚠
- p.Asp167Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp432Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Gln351Arg Multiple submitters Inborn genetic diseases ⚠
- p.His217Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile346Met Multiple submitters acrodysostosis 2 with or without hormone resistance ⚠
- p.Ile427Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile569= Multiple submitters acrodysostosis 2 with or without hormone resistance
- p.Leu284Pro Multiple submitters ⚠
- p.Leu81fs Multiple submitters
- p.Lys265Thr Multiple submitters Inborn genetic diseases
- p.Pro79Ser Multiple submitters acrodysostosis 2 with or without hormone resistance ⚠
- p.Pro87Leu Multiple submitters acrodysostosis 2 with or without hormone resistance ⚠
- p.Ser499Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ser752Asn Multiple submitters ⚠
- p.Ser754Gly Multiple submitters acrodysostosis 2 with or without hormone resistance ⚠
- p.Thr748Met Multiple submitters acrodysostosis 2 with or without hormone resistance ⚠
- p.Val789Glu Multiple submitters acrodysostosis 2 with or without hormone resistance ⚠
- c.1188+15A>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.1188+4T>C Single submitter
- c.1707+12A>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.2014-58_2014-20del Single submitter
- c.456-140878dup Single submitter
- c.456-214390G>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.647+3A>G Single submitter
- c.809-24C>T Single submitter
- c.922-6031A>G Single submitter
- c.922-6049T>C Single submitter PDE4D-related disorder
- c.-336C>T Single submitter
- c.-55C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1034C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1268T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1278C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1295G>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*131T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1379A>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1446T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1572A>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1649C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1729G>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1778T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*1924T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2003T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2004C>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2185T>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2198C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2225C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2369G>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2383G>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2604A>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2653C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2841A>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*2999T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*3028A>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*310C>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*3210A>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*3325T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*3418T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*348_*351del Single submitter
- c.*3492T>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*3562T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*3754_*3755dup Single submitter
- c.*3844G>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*3863T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*3875G>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*3892G>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*403G>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*414T>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*421A>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*4513C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*4524C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*4529C>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*4703A>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*4727C>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*4981C>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*5000A>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*5201G>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*5283A>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*5295G>T Single submitter acrodysostosis 2 with or without hormone resistance
- c.*535A>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*5413G>C Single submitter acrodysostosis 2 with or without hormone resistance
- c.*5545C>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*58G>A Single submitter acrodysostosis 2 with or without hormone resistance
- c.*649T>G Single submitter acrodysostosis 2 with or without hormone resistance
- c.*780G>C Single submitter acrodysostosis 2 with or without hormone resistance
- p.Ala127Val Single submitter ⚠
- p.Ala227Val Single submitter ⚠
- p.Ala250Thr Single submitter Inborn genetic diseases ⚠
- p.Ala28Val Single submitter ⚠
- p.Ala583Val Single submitter ⚠
- p.Ala665Asp Single submitter ⚠
- p.Ala694Thr Single submitter ⚠
- p.Ala799Asp Single submitter Inborn genetic diseases ⚠
- p.Ala8Glu Single submitter ⚠
- p.Ala8Ser Single submitter ⚠
- p.Ala96Thr Single submitter ⚠
- p.Arg119Pro Single submitter ⚠
- p.Arg11Gln Single submitter ⚠
- p.Arg11Trp Single submitter ⚠
- p.Arg133Gln Single submitter ⚠
- p.Arg152Leu Single submitter ⚠
- p.Arg188Gln Single submitter ⚠
- p.Arg208Gln Single submitter ⚠
- p.Arg234Gln Single submitter ⚠
- p.Arg234Leu Single submitter ⚠
- p.Arg237Ter Single submitter
- p.Arg249Ter Single submitter
- p.Arg31Gly Single submitter acrodysostosis 2 with or without hormone resistance
- p.Arg324Gln Single submitter ⚠
- p.Arg431Trp Single submitter Inborn genetic diseases ⚠
- p.Arg44His Single submitter Inborn genetic diseases
- p.Arg44Pro Single submitter Inborn genetic diseases
- p.Arg632Cys Single submitter ⚠
- p.Arg648Gln Single submitter ⚠
- p.Arg652His Single submitter Inborn genetic diseases ⚠
- p.Arg92Ser Single submitter ⚠
- p.Arg94Ser Single submitter ⚠
- p.Asn238Tyr Single submitter ⚠
- p.Asn45Ser Single submitter Inborn genetic diseases
- p.Asn464Lys Single submitter ⚠
- p.Asn623Ser Single submitter ⚠
- p.Asn664Ser Single submitter Inborn genetic diseases ⚠
- p.Asp111Asn Single submitter ⚠
- p.Asp122Tyr Single submitter ⚠
- p.Asp196Asn Single submitter Inborn genetic diseases ⚠
- p.Asp289_Leu291del Single submitter
- p.Asp458His Single submitter ⚠
- p.Asp607Asn Single submitter ⚠
- p.Asp696Val Single submitter ⚠
- p.Asp743Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp751His Single submitter Inborn genetic diseases ⚠
- p.Asp772Asn Single submitter Inborn genetic diseases ⚠
- p.Asp772Gly Single submitter
- p.Asp772Tyr Single submitter
- p.Asp781Asn Single submitter ⚠
- p.Cys548_Asp549delinsTer Single submitter
- p.Cys800Phe Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Gln328Pro Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Gln390Glu Single submitter ⚠
- p.Gln429Arg Single submitter Inborn genetic diseases ⚠
- p.Gln47Arg Single submitter ⚠
- p.Gln512fs Single submitter
- p.Gln552Arg Single submitter Inborn genetic diseases ⚠
- p.Gln610Lys Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Gln755Lys Single submitter ⚠
- p.Glu129Ala Single submitter ⚠
- p.Glu270Asp Single submitter ⚠
- p.Glu279Ala Single submitter ⚠
- p.Glu279Lys Single submitter Inborn genetic diseases ⚠
- p.Glu343Asp Single submitter ⚠
- p.Glu389Asp Single submitter ⚠
- p.Glu391Asp Single submitter
- p.Glu546Asp Single submitter ⚠
- p.Glu724Val Single submitter Inborn genetic diseases ⚠
- p.Glu785Asp Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Gly131Arg Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly175Ala Single submitter ⚠
- p.Gly23Arg Single submitter ⚠
- p.Gly32Arg Single submitter Inborn genetic diseases
- p.Gly416Cys Single submitter Inborn genetic diseases ⚠
- p.Gly726Asp Single submitter ⚠
- p.Gly726fs Single submitter
- p.Gly89Arg Single submitter ⚠
- p.Gly89Glu Single submitter ⚠
- p.Gly93Ser Single submitter ⚠
- p.His184Asn Single submitter Inborn genetic diseases ⚠
- p.His38Arg Single submitter ⚠
- p.His39_Gln40insHis Single submitter
- p.His425Pro Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Ile263Val Single submitter ⚠
- p.Ile333Val Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Ile411Met Single submitter ⚠
- p.Ile445Val Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Ile492Met Single submitter acrodysostosis 2 with or without hormone resistance
- p.Ile496Thr Single submitter ⚠
- p.Ile501Val Single submitter Inborn genetic diseases ⚠
- p.Ile569Val Single submitter ⚠
- p.Ile656Met Single submitter PDE4D-related disorder ⚠
- p.Ile678Val Single submitter Inborn genetic diseases ⚠
- p.Leu150Phe Single submitter ⚠
- p.Leu192Gln Single submitter ⚠
- p.Leu221Trp Single submitter Inborn genetic diseases ⚠
- p.Leu288Pro Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Leu316Phe Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Leu478Ser Single submitter ⚠
- p.Leu50Phe Single submitter ⚠
- p.Leu600Phe Single submitter ⚠
- p.Leu602del Single submitter
- p.Leu602Phe Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Leu768Val Single submitter Inborn genetic diseases ⚠
- p.Lys138Glu Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Lys27Arg Single submitter ⚠
- p.Lys30Arg Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Lys30fs Single submitter
- p.Lys592Gln Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Met121Val Single submitter ⚠
- p.Met206Ile Single submitter ⚠
- p.Met206Lys Single submitter ⚠
- p.Met424Thr Single submitter Inborn genetic diseases ⚠
- p.Met449Thr Single submitter
- p.Met588Ile Single submitter ⚠
- p.Phe191Val Single submitter ⚠
- p.Phe308Leu Single submitter ⚠
- p.Pro144Leu Single submitter ⚠
- p.Pro144Ser Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Pro168Ser Single submitter Inborn genetic diseases ⚠
- p.Pro440= Single submitter
- p.Pro59Leu Single submitter ⚠
- p.Pro658His Single submitter ⚠
- p.Pro65Arg Single submitter PDE4D-related disorder
- p.Pro67Ser Single submitter ⚠
- p.Pro692Leu Single submitter Inborn genetic diseases ⚠
- p.Pro69Leu Single submitter ⚠
- p.Pro69Ser Single submitter ⚠
- p.Pro720Leu Single submitter Inborn genetic diseases ⚠
- p.Pro75= Single submitter acrodysostosis 2 with or without hormone resistance
- p.Pro78Arg Single submitter ⚠
- p.Pro79_Pro88del Single submitter
- p.Pro79Arg Single submitter ⚠
- p.Pro79His Single submitter ⚠
- p.Pro80_Leu81insPro Single submitter
- p.Pro807Arg Single submitter Inborn genetic diseases ⚠
- p.Pro80Ser Single submitter ⚠
- p.Pro82Gln Single submitter ⚠
- p.Pro83Leu Single submitter ⚠
- p.Pro88_Gly89insProProProPro Single submitter
- p.Pro88fs Single submitter
- p.Ser146Leu Single submitter
- p.Ser14Arg Single submitter ⚠
- p.Ser185Asn Single submitter ⚠
- p.Ser185Cys Single submitter Inborn genetic diseases ⚠
- p.Ser18Arg Single submitter ⚠
- p.Ser190Tyr Single submitter ⚠
- p.Ser232Ile Single submitter Inborn genetic diseases ⚠
- p.Ser301Arg Single submitter ⚠
- p.Ser320Cys Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Ser323Ile Single submitter ⚠
- p.Ser325Phe Single submitter ⚠
- p.Ser334Pro Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Ser362Phe Single submitter Inborn genetic diseases ⚠
- p.Ser415Cys Single submitter ⚠
- p.Ser519Thr Single submitter Inborn genetic diseases ⚠
- p.Ser622= Single submitter
- p.Ser64Leu Single submitter ⚠
- p.Ser715Ile Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Ser7Gly Single submitter ⚠
- p.Ser98Arg Single submitter ⚠
- p.Thr130Ser Single submitter ⚠
- p.Thr159Ile Single submitter Inborn genetic diseases ⚠
- p.Thr25Ala Single submitter ⚠
- p.Thr293Ile Single submitter ⚠
- p.Thr336Ala Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Thr388Ser Single submitter ⚠
- p.Thr436Ile Single submitter Inborn genetic diseases
- p.Thr446Ile Single submitter ⚠
- p.Thr625Ala Single submitter ⚠
- p.Thr635Lys Single submitter ⚠
- p.Thr700Ala Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Thr731Ile Single submitter ⚠
- p.Thr760Pro Single submitter ⚠
- p.Thr809Met Single submitter ⚠
- p.Tyr41His Single submitter ⚠
- p.Tyr447His Single submitter Inborn genetic diseases ⚠
- p.Tyr677Asp Single submitter ⚠
- p.Tyr677Cys Single submitter ⚠
- p.Val128Ala Single submitter ⚠
- p.Val223Glu Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Val223Met Single submitter ⚠
- p.Val229Phe Single submitter ⚠
- p.Val530Ala Single submitter ⚠
- p.Val594Leu Single submitter acrodysostosis 2 with or without hormone resistance ⚠
- p.Val599Ile Single submitter ⚠
- p.Val667Met Single submitter Inborn genetic diseases ⚠
- p.Val679Ala Single submitter Inborn genetic diseases
- p.Val784Leu Single submitter ⚠
- p.Val789Ala Single submitter ⚠
- p.Val789Ile Single submitter Inborn genetic diseases ⚠
- p.Asn417Ser No assertion criteria PDE4D-related disorder ⚠
- p.Ser197Arg No assertion criteria PDE4D-related disorder ⚠