PDE11A — 251 ClinVar variants
All ClinVar germline PDE11A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 154 flagged for review →
2 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 10 Conflicting · 31 Benign · 2 Benign/Likely benign · 27 Likely benign · 170 Uncertain significance
Full PDE11A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 154
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.
-
PDE11A p.Ala883Thr
Conflicting
Single submitter
pigmented nodular adrenocortical disease, primary, 2
- PDE11A p.Arg52Thr Conflicting Single submitter
- PDE11A p.Asp609Asn Conflicting Single submitter
- PDE11A p.Gly77Arg Conflicting Single submitter
-
PDE11A p.Ile552Thr
Conflicting
Single submitter
pigmented nodular adrenocortical disease, primary, 2
Predictors lean, ClinVar uncertain 101
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PDE11A p.Tyr658Cys
Uncertain significance
Multiple submitters
pigmented nodular adrenocortical disease, primary, 2
- PDE11A p.Ala145Val Uncertain significance Single submitter
- PDE11A p.Ala156Val Uncertain significance Single submitter
- PDE11A p.Ala246Thr Uncertain significance Single submitter
- PDE11A p.Ala369Thr Uncertain significance Single submitter
- PDE11A p.Ala453Pro Uncertain significance Single submitter
- PDE11A p.Ala480Pro Uncertain significance Single submitter
- PDE11A p.Ala48Pro Uncertain significance Single submitter
- PDE11A p.Ala528Thr Uncertain significance Single submitter
- PDE11A p.Ala542Val Uncertain significance Single submitter
- PDE11A p.Ala572Thr Uncertain significance Single submitter
- PDE11A p.Ala572Val Uncertain significance Single submitter
- PDE11A p.Ala607Asp Uncertain significance Single submitter
- PDE11A p.Ala626Asp Uncertain significance Single submitter
- PDE11A p.Ala669Thr Uncertain significance Single submitter
- PDE11A p.Ala696Thr Uncertain significance Single submitter
- PDE11A p.Ala741Thr Uncertain significance Single submitter
- PDE11A p.Ala855Ser Uncertain significance Single submitter
- PDE11A p.Ala928Thr Uncertain significance Single submitter
- PDE11A p.Arg153Gln Uncertain significance Single submitter
- PDE11A p.Arg154Leu Uncertain significance Single submitter
- PDE11A p.Arg413Pro Uncertain significance Single submitter
- PDE11A p.Arg413Trp Uncertain significance Single submitter
- PDE11A p.Arg496His Uncertain significance Single submitter
- PDE11A p.Arg5Cys Uncertain significance Single submitter
- PDE11A p.Arg659Gln Uncertain significance Single submitter
- PDE11A p.Arg659Trp Uncertain significance Single submitter
-
PDE11A p.Arg709Gly
Uncertain significance
Single submitter
pigmented nodular adrenocortical disease, primary, 2
- PDE11A p.Arg844Pro Uncertain significance Single submitter
- PDE11A p.Arg859Gln Uncertain significance Single submitter
- PDE11A p.Asp215Val Uncertain significance Single submitter
- PDE11A p.Asp305Val Uncertain significance Single submitter
- PDE11A p.Asp609Tyr Uncertain significance Single submitter
- PDE11A p.Asp707Val Uncertain significance Single submitter
- PDE11A p.Asp776Glu Uncertain significance Single submitter
- PDE11A p.Asp874Glu Uncertain significance Single submitter
- PDE11A p.Cys701Arg Uncertain significance Single submitter
- PDE11A p.Cys93Ser Uncertain significance Single submitter
- PDE11A p.Gln32His Uncertain significance Single submitter
- PDE11A p.Gln44His Uncertain significance Single submitter
- PDE11A p.Gln638Glu Uncertain significance Single submitter
- PDE11A p.Glu693Gly Uncertain significance Single submitter
- PDE11A p.Glu930Lys Uncertain significance Single submitter
- PDE11A p.Gly108Val Uncertain significance Single submitter
- PDE11A p.Gly283Val Uncertain significance Single submitter
- PDE11A p.Gly635Trp Uncertain significance Single submitter
- PDE11A p.Gly80Ser Uncertain significance Single submitter
- PDE11A p.Gly90Val Uncertain significance Single submitter
- PDE11A p.His132Asp Uncertain significance Single submitter
- PDE11A p.His261Tyr Uncertain significance Single submitter
- PDE11A p.His708Asn Uncertain significance Single submitter
- PDE11A p.His909Tyr Uncertain significance Single submitter
- PDE11A p.Ile190Val Uncertain significance Single submitter
- PDE11A p.Ile212Thr Uncertain significance Single submitter
- PDE11A p.Ile287Asn Uncertain significance Single submitter
- PDE11A p.Ile312Val Uncertain significance Single submitter
- PDE11A p.Ile744Ser Uncertain significance Single submitter
- PDE11A p.Ile752Thr Uncertain significance Single submitter
-
PDE11A p.Ile873Thr
Uncertain significance
Single submitter
pigmented nodular adrenocortical disease, primary, 2
- PDE11A p.Leu403Pro Uncertain significance Single submitter
- PDE11A p.Leu556Arg Uncertain significance Single submitter
- PDE11A p.Leu581Pro Uncertain significance Single submitter
- PDE11A p.Leu662Val Uncertain significance Single submitter
- PDE11A p.Leu733Ser Uncertain significance Single submitter
-
PDE11A p.Leu764Phe
Uncertain significance
Single submitter
pigmented nodular adrenocortical disease, primary, 2
-
PDE11A p.Leu779Pro
Uncertain significance
Single submitter
pigmented nodular adrenocortical disease, primary, 2
- PDE11A p.Leu833Phe Uncertain significance Single submitter
- PDE11A p.Leu870Arg Uncertain significance Single submitter
- PDE11A p.Met563Thr Uncertain significance Single submitter
- PDE11A p.Met623Val Uncertain significance Single submitter
- PDE11A p.Met632Val Uncertain significance Single submitter
-
PDE11A p.Met812Ile
Uncertain significance
Single submitter
pigmented nodular adrenocortical disease, primary, 2
- PDE11A p.Phe14Ser Uncertain significance Single submitter
- PDE11A p.Phe205Ser Uncertain significance Single submitter
- PDE11A p.Phe788Ser Uncertain significance Single submitter
- PDE11A p.Phe838Ser Uncertain significance Single submitter
- PDE11A p.Pro166Leu Uncertain significance Single submitter
- PDE11A p.Pro327Arg Uncertain significance Single submitter
- PDE11A p.Pro327Leu Uncertain significance Single submitter
- PDE11A p.Pro327Thr Uncertain significance Single submitter
- PDE11A p.Pro350Leu Uncertain significance Single submitter
- PDE11A p.Pro601Arg Uncertain significance Single submitter
- PDE11A p.Pro78Ser Uncertain significance Single submitter
- PDE11A p.Ser222Thr Uncertain significance Single submitter
- PDE11A p.Ser239Pro Uncertain significance Single submitter
- PDE11A p.Ser460Arg Uncertain significance Single submitter
- PDE11A p.Ser520Asn Uncertain significance Single submitter
- PDE11A p.Ser59Arg Uncertain significance Single submitter
- PDE11A p.Ser897Ala Uncertain significance Single submitter
- PDE11A p.Ser919Leu Uncertain significance Single submitter
- PDE11A p.Thr272Ala Uncertain significance Single submitter
- PDE11A p.Thr320Lys Uncertain significance Single submitter
- PDE11A p.Thr586Ile Uncertain significance Single submitter
-
PDE11A p.Thr682Ala
Uncertain significance
Single submitter
pigmented nodular adrenocortical disease, primary, 2
- PDE11A p.Tyr466Cys Uncertain significance Single submitter
- PDE11A p.Val141Leu Uncertain significance Single submitter
- PDE11A p.Val620Ile Uncertain significance Single submitter
- PDE11A p.Val661Phe Uncertain significance Single submitter
- PDE11A p.Val672Met Uncertain significance Single submitter
- PDE11A p.Val699Ala Uncertain significance Single submitter
- PDE11A p.Val699Glu Uncertain significance Single submitter
Predictors split 48
The independent predictors disagree with each other — read with care.
- PDE11A p.Arg867Gly Benign Multiple submitters
-
PDE11A p.Arg867Trp
Uncertain significance
Multiple submitters
pigmented nodular adrenocortical disease, primary, 2
-
PDE11A p.Pro165Thr
Uncertain significance
Multiple submitters
pigmented nodular adrenocortical disease, primary, 2
-
PDE11A p.Pro893Gln
Uncertain significance
Multiple submitters
pigmented nodular adrenocortical disease, primary, 2
- PDE11A p.Ala349Pro Uncertain significance Single submitter
- PDE11A p.Ala3Val Uncertain significance Single submitter
- PDE11A p.Ala915Pro Likely benign Single submitter
- PDE11A p.Ala915Val Likely benign Single submitter
- PDE11A p.Arg154Gly Uncertain significance Single submitter
- PDE11A p.Arg422His Uncertain significance Single submitter
- PDE11A p.Arg510Thr Uncertain significance Single submitter
- PDE11A p.Arg844Gln Uncertain significance Single submitter
- PDE11A p.Asn200Ser Uncertain significance Single submitter
- PDE11A p.Asn309Ser Uncertain significance Single submitter
- PDE11A p.Asn860Lys Uncertain significance Single submitter
-
PDE11A p.Asp259Asn
Uncertain significance
Single submitter
PDE11A-related disorder
- PDE11A p.Asp430Asn Uncertain significance Single submitter
- PDE11A p.Asp498Glu Uncertain significance Single submitter
- PDE11A p.Asp619Asn Uncertain significance Single submitter
- PDE11A p.Asp805Gly Uncertain significance Single submitter
- PDE11A p.Glu36Lys Uncertain significance Single submitter
- PDE11A p.Glu691Lys Benign Single submitter
-
PDE11A p.Glu840Gln
Uncertain significance
Single submitter
pigmented nodular adrenocortical disease, primary, 2
- PDE11A p.Glu871Gln Uncertain significance Single submitter
- PDE11A p.Gly91Glu Uncertain significance Single submitter
- PDE11A p.Gly94Asp Uncertain significance Single submitter
- PDE11A p.His170Arg Uncertain significance Single submitter
- PDE11A p.His195Leu Uncertain significance Single submitter
- PDE11A p.Ile624Phe Uncertain significance Single submitter
- PDE11A p.Leu158His Uncertain significance Single submitter
- PDE11A p.Leu618Val Uncertain significance Single submitter
- PDE11A p.Lys251Gln Uncertain significance Single submitter
- PDE11A p.Pro447Arg Uncertain significance Single submitter
- PDE11A p.Pro538His Uncertain significance Single submitter
- PDE11A p.Pro893Arg Uncertain significance Single submitter
- PDE11A p.Pro893Leu Uncertain significance Single submitter
- PDE11A p.Ser124Asn Uncertain significance Single submitter
- PDE11A p.Ser433Leu Uncertain significance Single submitter
- PDE11A p.Thr219Ile Uncertain significance Single submitter
- PDE11A p.Thr272Ile Uncertain significance Single submitter
- PDE11A p.Thr296Ala Uncertain significance Single submitter
- PDE11A p.Thr778Met Uncertain significance Single submitter
- PDE11A p.Thr785Ile Uncertain significance Single submitter
- PDE11A p.Thr852Ile Uncertain significance Single submitter
-
PDE11A p.Val592Ile
Uncertain significance
Single submitter
pigmented nodular adrenocortical disease, primary, 2
- PDE11A p.Val885Met Uncertain significance Single submitter
-
PDE11A p.Asn298Ser
Benign
No assertion criteria
PDE11A-related disorder
- PDE11A p.Leu218Phe Uncertain significance No assertion criteria
All PDE11A variants
Pathogenic/Likely pathogenic 2
- p.Ser604Ter Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- p.Ser757fs Multiple submitters pigmented nodular adrenocortical disease, primary, 2
Likely pathogenic 9
- c.1936-2A>T Single submitter
- p.Ala246fs Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Arg154fs Single submitter
- p.Gln415Ter Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Gln529Ter Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Gln638fs Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Gln686Ter Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Ser424fs Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Tyr383Ter Single submitter pigmented nodular adrenocortical disease, primary, 2
Conflicting classifications of pathogenicity 10
- p.Ala883Thr Single submitter pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Arg307Ter Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Arg52Thr Single submitter ⚠
- p.Arg7fs Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Asp609Asn Single submitter ⚠
- p.Cys554fs Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Gln46fs Single submitter PDE11A-related disorder
- p.Gly77Arg Single submitter ⚠
- p.Ile552Thr Single submitter pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Thr58fs Single submitter Bardet-Biedl syndrome 16
Benign 31
- c.1576+26C>T Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- c.1577-3T>C Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- c.1737+22G>A Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- c.2424-47T>C Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- c.2488-29T>C Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- c.2563-26G>A Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- p.Ala542= Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- p.Arg184Gln Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- p.Arg202Cys Multiple submitters
- p.Arg659= Multiple submitters
- p.Arg867Gly Multiple submitters ⚠
- p.Leu49= Multiple submitters
- p.Leu880Phe Multiple submitters
- p.Ser921dup Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- p.Thr264= Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- p.Tyr796= Multiple submitters
- c.1577-4A>G Single submitter
- c.2043+7G>A Single submitter
- p.Glu691Lys Single submitter ⚠
- p.Leu581= Single submitter
- p.Leu618= Single submitter
- p.Phe715= Single submitter
- p.Pro495= Single submitter
- p.Ser570Pro Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Thr219= Single submitter
- p.Thr778= Single submitter
- c.1072-3C>T No assertion criteria PDE11A-related disorder
- p.Ala678Thr No assertion criteria PDE11A-related disorder
- p.Asn298Ser No assertion criteria PDE11A-related disorder ⚠
- p.Glu421= No assertion criteria PDE11A-related disorder
- p.Thr51Ile No assertion criteria PDE11A-related disorder
Benign/Likely benign 2
- p.Leu267= Multiple submitters
- p.Met878Val Multiple submitters
Likely benign 27
- p.Ala678= Multiple submitters
- p.Leu756= Multiple submitters
- c.1161+9A>G Single submitter
- c.1303-6C>T Single submitter
- c.1738-10T>G Single submitter pigmented nodular adrenocortical disease, primary, 2
- c.2245-14C>T Single submitter pigmented nodular adrenocortical disease, primary, 2
- c.2424-1G>C Single submitter
- p.Ala451= Single submitter
- p.Ala741= Single submitter
- p.Ala915Pro Single submitter ⚠
- p.Ala915Val Single submitter ⚠
- p.Arg237= Single submitter
- p.Asp236Glu Single submitter
- p.Glu20= Single submitter
- p.Ile475Val Single submitter
- p.Leu121= Single submitter
- p.Leu208= Single submitter
- p.Leu390= Single submitter
- p.Leu662= Single submitter
- p.Lys160= Single submitter
- p.Pro823= Single submitter
- p.Val290= Single submitter
- p.Ala572= No assertion criteria PDE11A-related disorder
- p.His736= No assertion criteria PDE11A-related disorder
- p.Leu196= No assertion criteria PDE11A-related disorder
- p.Lys20Ter No assertion criteria PDE11A-related disorder
- p.Thr51= No assertion criteria PDE11A-related disorder
Uncertain significance 170
- p.Ala156fs Multiple submitters
- p.Arg329Ter Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- p.Arg867Trp Multiple submitters pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Gln374Ter Multiple submitters
- p.His42fs Multiple submitters pigmented nodular adrenocortical disease, primary, 2
- p.Pro165Thr Multiple submitters pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Pro893Gln Multiple submitters pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Tyr658Cys Multiple submitters pigmented nodular adrenocortical disease, primary, 2 ⚠
- c.1072-2A>G Single submitter
- c.2153+1G>A Single submitter
- c.2487+1G>C Single submitter pigmented nodular adrenocortical disease, primary, 2
- c.912+2T>A Single submitter
- c.-14+4A>G Single submitter
- p.Ala145Val Single submitter ⚠
- p.Ala156Val Single submitter ⚠
- p.Ala246Thr Single submitter ⚠
- p.Ala349Pro Single submitter ⚠
- p.Ala369Thr Single submitter ⚠
- p.Ala3Val Single submitter ⚠
- p.Ala453Pro Single submitter ⚠
- p.Ala480Pro Single submitter ⚠
- p.Ala48Pro Single submitter ⚠
- p.Ala528Thr Single submitter ⚠
- p.Ala542Val Single submitter ⚠
- p.Ala572Thr Single submitter ⚠
- p.Ala572Val Single submitter ⚠
- p.Ala607Asp Single submitter ⚠
- p.Ala626Asp Single submitter ⚠
- p.Ala669Thr Single submitter ⚠
- p.Ala696Thr Single submitter ⚠
- p.Ala741Thr Single submitter ⚠
- p.Ala855Ser Single submitter ⚠
- p.Ala928Thr Single submitter ⚠
- p.Arg153Gln Single submitter ⚠
- p.Arg154Gly Single submitter ⚠
- p.Arg154Leu Single submitter ⚠
- p.Arg17fs Single submitter
- p.Arg413Pro Single submitter ⚠
- p.Arg413Trp Single submitter ⚠
- p.Arg422His Single submitter ⚠
- p.Arg496His Single submitter ⚠
- p.Arg510Thr Single submitter ⚠
- p.Arg5Cys Single submitter ⚠
- p.Arg659Gln Single submitter ⚠
- p.Arg659Trp Single submitter ⚠
- p.Arg709Gly Single submitter pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Arg808Ter Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Arg844Gln Single submitter ⚠
- p.Arg844Pro Single submitter ⚠
- p.Arg859Gln Single submitter ⚠
- p.Asn200Ser Single submitter ⚠
- p.Asn309Ser Single submitter ⚠
- p.Asn860Lys Single submitter ⚠
- p.Asp215Val Single submitter ⚠
- p.Asp259Asn Single submitter PDE11A-related disorder ⚠
- p.Asp305Val Single submitter ⚠
- p.Asp430Asn Single submitter ⚠
- p.Asp498Glu Single submitter ⚠
- p.Asp609Tyr Single submitter ⚠
- p.Asp619Asn Single submitter ⚠
- p.Asp707Val Single submitter ⚠
- p.Asp776Glu Single submitter ⚠
- p.Asp805Gly Single submitter ⚠
- p.Asp874Glu Single submitter ⚠
- p.Cys701Arg Single submitter ⚠
- p.Cys877Ter Single submitter
- p.Cys93Ser Single submitter ⚠
- p.Gln32His Single submitter ⚠
- p.Gln44His Single submitter ⚠
- p.Gln638Glu Single submitter ⚠
- p.Gln686fs Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Gln770Ter Single submitter
- p.Glu36Lys Single submitter ⚠
- p.Glu693Gly Single submitter ⚠
- p.Glu840Gln Single submitter pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Glu871Gln Single submitter ⚠
- p.Glu930Lys Single submitter ⚠
- p.Gly108Val Single submitter ⚠
- p.Gly283Val Single submitter ⚠
- p.Gly635Trp Single submitter ⚠
- p.Gly80Ser Single submitter ⚠
- p.Gly90Val Single submitter ⚠
- p.Gly91Glu Single submitter ⚠
- p.Gly94Asp Single submitter ⚠
- p.His132Asp Single submitter ⚠
- p.His170Arg Single submitter ⚠
- p.His195Leu Single submitter ⚠
- p.His261Tyr Single submitter ⚠
- p.His708Asn Single submitter ⚠
- p.His909Tyr Single submitter ⚠
- p.Ile190Val Single submitter ⚠
- p.Ile212Thr Single submitter ⚠
- p.Ile287Asn Single submitter ⚠
- p.Ile312Val Single submitter ⚠
- p.Ile624Phe Single submitter ⚠
- p.Ile744Ser Single submitter ⚠
- p.Ile752Thr Single submitter ⚠
- p.Ile873Thr Single submitter pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Leu158His Single submitter ⚠
- p.Leu403Pro Single submitter ⚠
- p.Leu470fs Single submitter pigmented nodular adrenocortical disease, primary, 2
- p.Leu556Arg Single submitter ⚠
- p.Leu581Pro Single submitter ⚠
- p.Leu618Val Single submitter ⚠
- p.Leu662Val Single submitter ⚠
- p.Leu733Ser Single submitter ⚠
- p.Leu764Phe Single submitter pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Leu779Pro Single submitter pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Leu833Phe Single submitter ⚠
- p.Leu870Arg Single submitter ⚠
- p.Lys251Gln Single submitter ⚠
- p.Lys639_Phe640insLeuGlnLys Single submitter
- p.Met445fs Single submitter
- p.Met563Thr Single submitter ⚠
- p.Met623Val Single submitter ⚠
- p.Met632Val Single submitter ⚠
- p.Met812Ile Single submitter pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Phe14Ser Single submitter ⚠
- p.Phe205Ser Single submitter ⚠
- p.Phe788Ser Single submitter ⚠
- p.Phe838Ser Single submitter ⚠
- p.Pro166Leu Single submitter ⚠
- p.Pro265_Thr272del Single submitter
- p.Pro327Arg Single submitter ⚠
- p.Pro327Leu Single submitter ⚠
- p.Pro327Thr Single submitter ⚠
- p.Pro350Leu Single submitter ⚠
- p.Pro447Arg Single submitter ⚠
- p.Pro538His Single submitter ⚠
- p.Pro601Arg Single submitter ⚠
- p.Pro78Ser Single submitter ⚠
- p.Pro823fs Single submitter
- p.Pro893Arg Single submitter ⚠
- p.Pro893Leu Single submitter ⚠
- p.Pro8Leu Single submitter
- p.Ser124Asn Single submitter ⚠
- p.Ser222Thr Single submitter ⚠
- p.Ser239Pro Single submitter ⚠
- p.Ser433Leu Single submitter ⚠
- p.Ser460Arg Single submitter ⚠
- p.Ser520Asn Single submitter ⚠
- p.Ser59Arg Single submitter ⚠
- p.Ser897Ala Single submitter ⚠
- p.Ser919Leu Single submitter ⚠
- p.Thr219Ile Single submitter ⚠
- p.Thr272Ala Single submitter ⚠
- p.Thr272Ile Single submitter ⚠
- p.Thr296Ala Single submitter ⚠
- p.Thr320Lys Single submitter ⚠
- p.Thr51Ala Single submitter
- p.Thr586Ile Single submitter ⚠
- p.Thr646fs Single submitter
- p.Thr682Ala Single submitter pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Thr778Met Single submitter ⚠
- p.Thr785Ile Single submitter ⚠
- p.Thr852Ile Single submitter ⚠
- p.Tyr466Cys Single submitter ⚠
- p.Val141Leu Single submitter ⚠
- p.Val592Ile Single submitter pigmented nodular adrenocortical disease, primary, 2 ⚠
- p.Val620Ile Single submitter ⚠
- p.Val661Phe Single submitter ⚠
- p.Val672Met Single submitter ⚠
- p.Val699Ala Single submitter ⚠
- p.Val699Glu Single submitter ⚠
- p.Val885Met Single submitter ⚠
- p.Leu218Phe No assertion criteria ⚠
- p.Ser173fs No assertion criteria PDE11A-related disorder
- p.Ter934Gln No assertion criteria PDE11A-related disorder
- p.Trp38Ter No assertion criteria PDE11A-related disorder
- p.Tyr780Ter No assertion criteria PDE11A-related disorder