ADCY3 — 555 ClinVar variants
All ClinVar germline ADCY3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 245 flagged for review →
4 Pathogenic · 9 Likely pathogenic · 3 Conflicting · 24 Benign · 10 Benign/Likely benign · 220 Likely benign · 285 Uncertain significance
Full ADCY3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 245
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- ADCY3 p.Ser511Leu Conflicting Single submitter
-
ADCY3 p.Val798Ile
Conflicting
Single submitter
ADCY3-related disorder
Predictors lean, ClinVar uncertain 192
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 192
- ADCY3 p.Ala512Thr Uncertain significance Multiple submitters
- ADCY3 p.Ala553Val Uncertain significance Multiple submitters
-
ADCY3 p.Ala97Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADCY3 p.Arg1041His
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADCY3 p.Arg259Cys Uncertain significance Multiple submitters
-
ADCY3 p.Asp474Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADCY3 p.Cys727Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADCY3 p.Glu60Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADCY3 p.Ile119Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADCY3 p.Leu1027Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADCY3 p.Pro825Arg Uncertain significance Multiple submitters
-
ADCY3 p.Ser45Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADCY3 p.Thr743Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADCY3 p.Val1079Ile Uncertain significance Multiple submitters
-
ADCY3 p.Val1134Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADCY3 p.Val195Met
Uncertain significance
Multiple submitters
ADCY3-related disorder
-
ADCY3 p.Ala160Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Ala238Thr Uncertain significance Single submitter
-
ADCY3 p.Ala247Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Ala494Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Ala693Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Ala784Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Arg1099His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Arg136His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Arg161His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Arg252Cys
Uncertain significance
Single submitter
ADCY3-related disorder
-
ADCY3 p.Arg259His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Arg30His
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Arg34Gly Uncertain significance Single submitter
- ADCY3 p.Arg350Cys Uncertain significance Single submitter
-
ADCY3 p.Arg41Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Arg429His Uncertain significance Single submitter
-
ADCY3 p.Arg453Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Arg564His
Uncertain significance
Single submitter
ADCY3-related disorder
- ADCY3 p.Arg614Trp Uncertain significance Single submitter
-
ADCY3 p.Arg700Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Arg806His Uncertain significance Single submitter
- ADCY3 p.Arg808Pro Uncertain significance Single submitter
- ADCY3 p.Asn1000Lys Uncertain significance Single submitter
-
ADCY3 p.Asn308Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Asn515Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Asn750Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Asp132Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Asp298Glu Uncertain significance Single submitter
-
ADCY3 p.Asp556Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gln304Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Gln505Glu Uncertain significance Single submitter
- ADCY3 p.Gln631Arg Uncertain significance Single submitter
-
ADCY3 p.Gln821Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Glu1008Asp
Uncertain significance
Single submitter
inherited obesity
-
ADCY3 p.Glu1008Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Glu215Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Glu346Lys
Uncertain significance
Single submitter
ADCY3-related disorder
-
ADCY3 p.Glu483Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Glu60Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Glu818Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Glu947Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Glu9Lys Uncertain significance Single submitter
-
ADCY3 p.Gly408Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gly414Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gly44Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gly466Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gly476Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gly510Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gly740Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gly745Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gly945Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.His416Tyr Uncertain significance Single submitter
-
ADCY3 p.His804Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.His810Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Ile1042Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Ile456Thr Uncertain significance Single submitter
-
ADCY3 p.Ile529Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Ile653Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Ile698Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Leu108Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Leu792Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Leu817Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Lys1004Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Lys126Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Lys285Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Lys522Gln Uncertain significance Single submitter
-
ADCY3 p.Lys71Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Met1074Ile
Uncertain significance
Single submitter
ADCY3-related disorder
-
ADCY3 p.Met461Ile
Uncertain significance
Single submitter
ADCY3-related disorder
-
ADCY3 p.Met658Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Met814Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Met895Lys Uncertain significance Single submitter
-
ADCY3 p.Phe1118Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Phe468Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Phe847Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Pro10Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Pro189Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Pro28Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Pro514Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Ser545Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Ser637Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Ser639Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Thr1077Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Thr1127Ser Uncertain significance Single submitter
-
ADCY3 p.Thr1135Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Thr646Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Thr707Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Thr732Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Thr778Met Uncertain significance Single submitter
-
ADCY3 p.Thr918Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Thr993Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Tyr12Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Val116Met
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Val134Phe Uncertain significance Single submitter
-
ADCY3 p.Val230Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Val424Ile
Uncertain significance
Single submitter
ADCY3-related disorder
-
ADCY3 p.Val641Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Val642Ile Uncertain significance Single submitter
-
ADCY3 p.Val757Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Val900Met
Uncertain significance
Single submitter
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
-
ADCY3 p.Ala1051Asp
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Ala162Thr
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Ala238Val
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Ala355Val
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Ala393Pro
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Ala494Val
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Ala538Val
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Ala555Thr
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Ala600Thr
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Ala786Thr
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Ala816Thr
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg1057Trp
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg1122Trp
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg252His
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg252Leu
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg350Pro
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg362Gln
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg402Trp
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg412His
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg412Pro
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg565Gln
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg568Cys
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg685Gln
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg700Gln
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg796His
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg880Pro
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg902Cys
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg950His
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Asn1143Lys
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Asn591Ser
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Asn750Ser
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Asp29Asn
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Asp378Asn
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Asp469Glu
Uncertain significance
No assertion criteria
ADCY3-related disorder
Predictors split 51
The independent predictors disagree with each other — read with care.
-
ADCY3 p.Arg705Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADCY3 p.Glu650Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADCY3 p.Gly1097Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADCY3 p.Ala681Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Arg1099Cys Uncertain significance Single submitter
-
ADCY3 p.Arg565Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Arg566Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Arg623Cys
Uncertain significance
Single submitter
ADCY3-related disorder
-
ADCY3 p.Arg702His
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Asp324Asn Uncertain significance Single submitter
-
ADCY3 p.Asp654Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Asp803Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Asp911His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Cys46Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gln73His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Glu596Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gly114Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gly422Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Gly448Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Ile713Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Leu572Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Leu595His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Lys630Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Lys752Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Lys908Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Met1080Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ADCY3 p.Met842Ile Likely benign Single submitter
-
ADCY3 p.Met884Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Phe683Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Phe856Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Thr738Met
Uncertain significance
Single submitter
ADCY3-related disorder
-
ADCY3 p.Tyr400Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Tyr919Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Val326Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADCY3 p.Arg249His
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg249Leu
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Arg858His
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Asp167Gly
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Glu1008Ala
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Glu889Lys
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Gly449Ser
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Gly486Ser
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Gly667Arg
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.His201Tyr
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Lys444Asn
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Met925Ile
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Phe664Cys
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Pro751Thr
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Ser1005Cys
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Tyr754Cys
Uncertain significance
No assertion criteria
ADCY3-related disorder
-
ADCY3 p.Val318Ile
Uncertain significance
No assertion criteria
ADCY3-related disorder
All ADCY3 variants
Pathogenic 4
- p.Arg1009fs Single submitter
- p.Gln770Ter Single submitter
- p.Glu63Ter Single submitter
- p.Tyr756fs Single submitter
Likely pathogenic 9
- c.1805+2T>C Single submitter
- c.2883+1G>C Single submitter
- p.Arg412Leu Single submitter inherited obesity
- p.Arg702fs Single submitter ADCY3-related disorder
- c.1663-1G>A No assertion criteria ADCY3-related disorder
- c.2055+1G>C No assertion criteria ADCY3-related disorder
- c.957-1G>A No assertion criteria ADCY3-related disorder
- p.Arg575Ter No assertion criteria ADCY3-related disorder
- p.Thr440fs No assertion criteria ADCY3-related disorder
Conflicting classifications of pathogenicity 3
- p.Ser511Leu Single submitter ⚠
- p.Val110Met Single submitter
- p.Val798Ile Single submitter ADCY3-related disorder ⚠
Benign 24
- c.2495+8C>T Multiple submitters
- c.2578-3T>C Multiple submitters
- c.3127+12C>T Multiple submitters
- p.Arg350= Multiple submitters
- p.Glu742= Multiple submitters
- p.Leu389= Multiple submitters
- p.Pro377= Multiple submitters
- p.Ser107Pro Multiple submitters
- p.Ser194= Multiple submitters
- p.Ser957= Multiple submitters
- p.Thr531= Multiple submitters
- p.Tyr141= Multiple submitters
- c.1197-21_1197-19del Single submitter
- c.1967+15G>A Single submitter
- c.2496-15C>T Single submitter
- c.3127+11C>G Single submitter
- c.675+11709T>C Single submitter
- c.957-17G>T Single submitter
- p.Ala1020= Single submitter
- p.Ala165= Single submitter
- p.Gln570= Single submitter
- p.Leu256= Single submitter
- p.Thr843= Single submitter
- p.Val207Ile Single submitter
Benign/Likely benign 10
- c.1068+16C>T Multiple submitters
- c.956+19C>T Multiple submitters
- p.Ala109= Multiple submitters
- p.Ala447= Multiple submitters
- p.Asn1032= Multiple submitters
- p.Asn1130= Multiple submitters
- p.Asn345= Multiple submitters
- p.Leu124= Multiple submitters
- p.Thr202= Multiple submitters
- p.Thr918= Multiple submitters
Likely benign 220
- c.1967+14C>T Multiple submitters
- c.2056-10T>C Multiple submitters
- p.Asp289= Multiple submitters
- p.Cys235= Multiple submitters
- p.His810= Multiple submitters
- p.Ser43= Multiple submitters
- p.Thr732= Multiple submitters
- p.Val176= Multiple submitters
- p.Val415= Multiple submitters
- c.1068+17G>A Single submitter
- c.1068+9C>G Single submitter
- c.1069-14C>T Single submitter
- c.1069-8C>T Single submitter
- c.1196+16C>T Single submitter
- c.1197-4G>T Single submitter
- c.1533+11C>T Single submitter
- c.1662+12G>T Single submitter
- c.1805+13C>T Single submitter
- c.1805+19C>T Single submitter
- c.1805+20G>A Single submitter
- c.1805+6C>T Single submitter
- c.1806-4G>T Single submitter
- c.1967+13C>T Single submitter
- c.1967+15G>C Single submitter
- c.1968-11_1968-8del Single submitter
- c.2055+7G>A Single submitter
- c.2056-4C>T Single submitter
- c.2173-14G>A Single submitter
- c.2432+11G>A Single submitter
- c.2432+13G>A Single submitter
- c.2495+11C>T Single submitter
- c.2495+12G>A Single submitter
- c.2495+20C>T Single submitter
- c.2737-15C>T Single submitter
- c.2884-18C>A Single submitter
- c.3004-16C>T Single submitter
- c.3252+11T>G Single submitter
- c.825+11C>T Single submitter
- c.825+12G>A Single submitter
- c.956+18G>A Single submitter
- c.956+7C>T Single submitter
- p.Ala1056= Single submitter
- p.Ala160= Single submitter
- p.Ala160Ser Single submitter Inborn genetic diseases
- p.Ala555= Single submitter
- p.Ala784Thr Single submitter Inborn genetic diseases
- p.Arg1102= Single submitter
- p.Arg30= Single submitter
- p.Arg402= Single submitter
- p.Arg808Gln Single submitter Inborn genetic diseases
- p.Arg858= Single submitter
- p.Asn277= Single submitter
- p.Asn317= Single submitter
- p.Asn994= Single submitter
- p.Asp298= Single submitter
- p.Asp303= Single submitter
- p.Asp378= Single submitter
- p.Asp552Glu Single submitter Inborn genetic diseases
- p.Gly1047= Single submitter
- p.Gly448= Single submitter
- p.Ile325= Single submitter
- p.Ile653= Single submitter
- p.Ile669Val Single submitter Inborn genetic diseases
- p.Leu222= Single submitter
- p.Leu47= Single submitter
- p.Leu78= Single submitter
- p.Lys605= Single submitter
- p.Lys839= Single submitter
- p.Met842Ile Single submitter ⚠
- p.Phe799= Single submitter
- p.Pro1132= Single submitter
- p.Pro989= Single submitter
- p.Ser186= Single submitter
- p.Ser333= Single submitter
- p.Ser612= Single submitter
- p.Ser8= Single submitter
- p.Thr1026= Single submitter
- p.Thr489= Single submitter
- p.Thr544Met Single submitter Inborn genetic diseases
- p.Thr743= Single submitter
- p.Thr980= Single submitter
- p.Tyr379= Single submitter
- p.Tyr432= Single submitter
- p.Tyr802= Single submitter
- p.Val1079= Single submitter
- p.Val204= Single submitter
- p.Val401= Single submitter
- p.Val454= Single submitter
- p.Val641= Single submitter
- p.Val771= Single submitter
- c.1196+6del No assertion criteria ADCY3-related disorder
- c.1355+9C>T No assertion criteria ADCY3-related disorder
- c.1356-19CT[6] No assertion criteria ADCY3-related disorder
- c.1356-7A>C No assertion criteria ADCY3-related disorder
- c.1533+7_1533+8insG No assertion criteria ADCY3-related disorder
- c.1662+9A>G No assertion criteria ADCY3-related disorder
- c.1663-5C>T No assertion criteria ADCY3-related disorder
- c.1805+7G>A No assertion criteria ADCY3-related disorder
- c.1806-10C>G No assertion criteria ADCY3-related disorder
- c.1806-8C>T No assertion criteria ADCY3-related disorder
- c.2432+10A>T No assertion criteria ADCY3-related disorder
- c.2577+10G>A No assertion criteria ADCY3-related disorder
- c.2578-10G>T No assertion criteria ADCY3-related disorder
- c.2578-6C>G No assertion criteria ADCY3-related disorder
- c.2578-8G>A No assertion criteria ADCY3-related disorder
- c.2737-7T>G No assertion criteria ADCY3-related disorder
- c.3003+6T>G No assertion criteria ADCY3-related disorder
- c.3004-3C>T No assertion criteria ADCY3-related disorder
- c.3128-8T>G No assertion criteria ADCY3-related disorder
- c.3253-8C>T No assertion criteria ADCY3-related disorder
- c.3253-9C>T No assertion criteria ADCY3-related disorder
- c.675+9T>C No assertion criteria ADCY3-related disorder
- c.676-6G>A No assertion criteria ADCY3-related disorder
- c.826-7dup No assertion criteria ADCY3-related disorder
- c.956+4C>T No assertion criteria ADCY3-related disorder
- c.956+5G>A No assertion criteria ADCY3-related disorder
- c.956+9G>C No assertion criteria ADCY3-related disorder
- c.*9G>A No assertion criteria ADCY3-related disorder
- p.Ala1017= No assertion criteria ADCY3-related disorder
- p.Ala164= No assertion criteria ADCY3-related disorder
- p.Ala238= No assertion criteria ADCY3-related disorder
- p.Ala258= No assertion criteria ADCY3-related disorder
- p.Ala323= No assertion criteria ADCY3-related disorder
- p.Ala384= No assertion criteria ADCY3-related disorder
- p.Ala693= No assertion criteria ADCY3-related disorder
- p.Ala737= No assertion criteria ADCY3-related disorder
- p.Ala784= No assertion criteria ADCY3-related disorder
- p.Ala786= No assertion criteria ADCY3-related disorder
- p.Ala983= No assertion criteria ADCY3-related disorder
- p.Arg1057= No assertion criteria ADCY3-related disorder
- p.Arg1103= No assertion criteria ADCY3-related disorder
- p.Arg1122= No assertion criteria ADCY3-related disorder
- p.Arg34= No assertion criteria ADCY3-related disorder
- p.Arg362= No assertion criteria ADCY3-related disorder
- p.Arg453= No assertion criteria ADCY3-related disorder
- p.Arg54= No assertion criteria ADCY3-related disorder
- p.Arg597= No assertion criteria ADCY3-related disorder
- p.Arg614= No assertion criteria ADCY3-related disorder
- p.Arg808= No assertion criteria ADCY3-related disorder
- p.Arg865= No assertion criteria ADCY3-related disorder
- p.Asn229= No assertion criteria ADCY3-related disorder
- p.Asn42= No assertion criteria ADCY3-related disorder
- p.Asn509= No assertion criteria ADCY3-related disorder
- p.Asn535= No assertion criteria ADCY3-related disorder
- p.Asn591= No assertion criteria ADCY3-related disorder
- p.Asn706= No assertion criteria ADCY3-related disorder
- p.Asn828= No assertion criteria ADCY3-related disorder
- p.Asn888= No assertion criteria ADCY3-related disorder
- p.Asp118= No assertion criteria ADCY3-related disorder
- p.Asp433= No assertion criteria ADCY3-related disorder
- p.Asp574= No assertion criteria ADCY3-related disorder
- p.Asp934= No assertion criteria ADCY3-related disorder
- p.Cys372= No assertion criteria ADCY3-related disorder
- p.Gln214= No assertion criteria ADCY3-related disorder
- p.Gln770= No assertion criteria ADCY3-related disorder
- p.Glu346= No assertion criteria ADCY3-related disorder
- p.Glu873= No assertion criteria ADCY3-related disorder
- p.Gly375= No assertion criteria ADCY3-related disorder
- p.Gly414= No assertion criteria ADCY3-related disorder
- p.Gly422= No assertion criteria ADCY3-related disorder
- p.Gly473= No assertion criteria ADCY3-related disorder
- p.His163= No assertion criteria ADCY3-related disorder
- p.His201= No assertion criteria ADCY3-related disorder
- p.His315= No assertion criteria ADCY3-related disorder
- p.His359= No assertion criteria ADCY3-related disorder
- p.His455= No assertion criteria ADCY3-related disorder
- p.Ile763= No assertion criteria ADCY3-related disorder
- p.Ile766= No assertion criteria ADCY3-related disorder
- p.Ile941= No assertion criteria ADCY3-related disorder
- p.Leu105= No assertion criteria ADCY3-related disorder
- p.Leu146= No assertion criteria ADCY3-related disorder
- p.Leu157= No assertion criteria ADCY3-related disorder
- p.Leu227= No assertion criteria ADCY3-related disorder
- p.Leu234= No assertion criteria ADCY3-related disorder
- p.Leu347= No assertion criteria ADCY3-related disorder
- p.Leu421= No assertion criteria ADCY3-related disorder
- p.Leu590= No assertion criteria ADCY3-related disorder
- p.Leu644= No assertion criteria ADCY3-related disorder
- p.Leu671= No assertion criteria ADCY3-related disorder
- p.Leu760= No assertion criteria ADCY3-related disorder
- p.Leu79= No assertion criteria ADCY3-related disorder
- p.Leu914= No assertion criteria ADCY3-related disorder
- p.Lys805= No assertion criteria ADCY3-related disorder
- p.Phe1038= No assertion criteria ADCY3-related disorder
- p.Phe231= No assertion criteria ADCY3-related disorder
- p.Phe609= No assertion criteria ADCY3-related disorder
- p.Phe847= No assertion criteria ADCY3-related disorder
- p.Pro131= No assertion criteria ADCY3-related disorder
- p.Pro189= No assertion criteria ADCY3-related disorder
- p.Pro548= No assertion criteria ADCY3-related disorder
- p.Pro797= No assertion criteria ADCY3-related disorder
- p.Ser1005= No assertion criteria ADCY3-related disorder
- p.Ser1072= No assertion criteria ADCY3-related disorder
- p.Ser186Asn No assertion criteria ADCY3-related disorder
- p.Ser21= No assertion criteria ADCY3-related disorder
- p.Ser261= No assertion criteria ADCY3-related disorder
- p.Ser545= No assertion criteria ADCY3-related disorder
- p.Ser625= No assertion criteria ADCY3-related disorder
- p.Ser940= No assertion criteria ADCY3-related disorder
- p.Thr1077= No assertion criteria ADCY3-related disorder
- p.Thr148= No assertion criteria ADCY3-related disorder
- p.Thr208= No assertion criteria ADCY3-related disorder
- p.Thr309= No assertion criteria ADCY3-related disorder
- p.Thr417= No assertion criteria ADCY3-related disorder
- p.Thr419= No assertion criteria ADCY3-related disorder
- p.Thr544= No assertion criteria ADCY3-related disorder
- p.Thr738= No assertion criteria ADCY3-related disorder
- p.Thr778= No assertion criteria ADCY3-related disorder
- p.Thr866= No assertion criteria ADCY3-related disorder
- p.Thr972= No assertion criteria ADCY3-related disorder
- p.Tyr1061= No assertion criteria ADCY3-related disorder
- p.Tyr12= No assertion criteria ADCY3-related disorder
- p.Val1068= No assertion criteria ADCY3-related disorder
- p.Val1086= No assertion criteria ADCY3-related disorder
- p.Val1101= No assertion criteria ADCY3-related disorder
- p.Val1141= No assertion criteria ADCY3-related disorder
- p.Val577= No assertion criteria ADCY3-related disorder
- p.Val649= No assertion criteria ADCY3-related disorder
- p.Val836= No assertion criteria ADCY3-related disorder
- p.Val881= No assertion criteria ADCY3-related disorder
Uncertain significance 285
- p.Ala512Thr Multiple submitters ⚠
- p.Ala553Val Multiple submitters ⚠
- p.Ala97Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg1041His Multiple submitters Inborn genetic diseases ⚠
- p.Arg259Cys Multiple submitters ⚠
- p.Arg705Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp474Asn Multiple submitters Inborn genetic diseases ⚠
- p.Cys727Arg Multiple submitters Inborn genetic diseases ⚠
- p.Glu60Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu650Lys Multiple submitters Inborn genetic diseases ⚠
- p.Gly1097Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile119Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu1027Phe Multiple submitters Inborn genetic diseases ⚠
- p.Phe179Ser Multiple submitters Inborn genetic diseases
- p.Pro825Arg Multiple submitters ⚠
- p.Ser45Pro Multiple submitters Inborn genetic diseases ⚠
- p.Thr743Met Multiple submitters Inborn genetic diseases ⚠
- p.Val1079Ile Multiple submitters ⚠
- p.Val1134Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val195Met Multiple submitters ADCY3-related disorder ⚠
- c.2056-13_2056-12del Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
- c.2496-13C>T Single submitter ADCY3-related disorder
- c.3252+5G>T Single submitter
- c.675+7C>T Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
- p.Ala160Thr Single submitter Inborn genetic diseases ⚠
- p.Ala238Thr Single submitter ⚠
- p.Ala247Ser Single submitter Inborn genetic diseases ⚠
- p.Ala494Thr Single submitter Inborn genetic diseases ⚠
- p.Ala681Asp Single submitter Inborn genetic diseases ⚠
- p.Ala693Thr Single submitter Inborn genetic diseases ⚠
- p.Ala712Thr Single submitter Inborn genetic diseases
- p.Ala784Val Single submitter Inborn genetic diseases ⚠
- p.Arg1094Ter Single submitter
- p.Arg1099Cys Single submitter ⚠
- p.Arg1099His Single submitter Inborn genetic diseases ⚠
- p.Arg136His Single submitter Inborn genetic diseases ⚠
- p.Arg161His Single submitter Inborn genetic diseases ⚠
- p.Arg252Cys Single submitter ADCY3-related disorder ⚠
- p.Arg259His Single submitter Inborn genetic diseases ⚠
- p.Arg30His Single submitter Inborn genetic diseases ⚠
- p.Arg34Gly Single submitter ⚠
- p.Arg350Cys Single submitter ⚠
- p.Arg41Gln Single submitter Inborn genetic diseases ⚠
- p.Arg429His Single submitter ⚠
- p.Arg453Cys Single submitter Inborn genetic diseases ⚠
- p.Arg564His Single submitter ADCY3-related disorder ⚠
- p.Arg565Trp Single submitter Inborn genetic diseases ⚠
- p.Arg566Gly Single submitter Inborn genetic diseases ⚠
- p.Arg614Trp Single submitter ⚠
- p.Arg623Cys Single submitter ADCY3-related disorder ⚠
- p.Arg700Trp Single submitter Inborn genetic diseases ⚠
- p.Arg702His Single submitter Inborn genetic diseases ⚠
- p.Arg806His Single submitter ⚠
- p.Arg808Pro Single submitter ⚠
- p.Arg886Cys Single submitter
- p.Arg969Trp Single submitter Inborn genetic diseases
- p.Asn1000Lys Single submitter ⚠
- p.Asn1045fs Single submitter
- p.Asn308Ser Single submitter Inborn genetic diseases ⚠
- p.Asn515Ser Single submitter Inborn genetic diseases ⚠
- p.Asn750Lys Single submitter Inborn genetic diseases ⚠
- p.Asp1018Asn Single submitter Inborn genetic diseases
- p.Asp132Gly Single submitter Inborn genetic diseases ⚠
- p.Asp298Glu Single submitter ⚠
- p.Asp324Asn Single submitter ⚠
- p.Asp556Asn Single submitter Inborn genetic diseases ⚠
- p.Asp654Gly Single submitter Inborn genetic diseases ⚠
- p.Asp803Asn Single submitter Inborn genetic diseases ⚠
- p.Asp911His Single submitter Inborn genetic diseases ⚠
- p.Cys46Ser Single submitter Inborn genetic diseases ⚠
- p.Gln304Lys Single submitter Inborn genetic diseases ⚠
- p.Gln505Glu Single submitter ⚠
- p.Gln631Arg Single submitter ⚠
- p.Gln73His Single submitter Inborn genetic diseases ⚠
- p.Gln821Lys Single submitter Inborn genetic diseases ⚠
- p.Glu1008Asp Single submitter inherited obesity ⚠
- p.Glu1008Gln Single submitter Inborn genetic diseases ⚠
- p.Glu215Gln Single submitter Inborn genetic diseases ⚠
- p.Glu346Lys Single submitter ADCY3-related disorder ⚠
- p.Glu483Lys Single submitter Inborn genetic diseases ⚠
- p.Glu596Lys Single submitter Inborn genetic diseases ⚠
- p.Glu60Gly Single submitter Inborn genetic diseases ⚠
- p.Glu818Lys Single submitter Inborn genetic diseases ⚠
- p.Glu947Gly Single submitter Inborn genetic diseases ⚠
- p.Glu9Lys Single submitter ⚠
- p.Gly114Val Single submitter Inborn genetic diseases ⚠
- p.Gly408Arg Single submitter
- p.Gly408Glu Single submitter Inborn genetic diseases ⚠
- p.Gly414Arg Single submitter Inborn genetic diseases ⚠
- p.Gly422Val Single submitter Inborn genetic diseases ⚠
- p.Gly448Ser Single submitter Inborn genetic diseases ⚠
- p.Gly44Ala Single submitter Inborn genetic diseases ⚠
- p.Gly466Arg Single submitter Inborn genetic diseases
- p.Gly466Val Single submitter Inborn genetic diseases ⚠
- p.Gly476Ser Single submitter Inborn genetic diseases ⚠
- p.Gly510Ser Single submitter Inborn genetic diseases ⚠
- p.Gly740Ala Single submitter Inborn genetic diseases ⚠
- p.Gly745Ser Single submitter Inborn genetic diseases ⚠
- p.Gly945Ala Single submitter Inborn genetic diseases ⚠
- p.His416Tyr Single submitter ⚠
- p.His804Gln Single submitter Inborn genetic diseases ⚠
- p.His810Arg Single submitter Inborn genetic diseases ⚠
- p.His859= Single submitter
- p.Ile1042Thr Single submitter Inborn genetic diseases ⚠
- p.Ile456Thr Single submitter ⚠
- p.Ile529Thr Single submitter Inborn genetic diseases ⚠
- p.Ile653Leu Single submitter Inborn genetic diseases ⚠
- p.Ile698Val Single submitter Inborn genetic diseases ⚠
- p.Ile713Thr Single submitter Inborn genetic diseases ⚠
- p.Leu108Phe Single submitter Inborn genetic diseases ⚠
- p.Leu572Pro Single submitter Inborn genetic diseases ⚠
- p.Leu595His Single submitter Inborn genetic diseases ⚠
- p.Leu792Phe Single submitter Inborn genetic diseases ⚠
- p.Leu817Ser Single submitter Inborn genetic diseases ⚠
- p.Leu848= Single submitter
- p.Lys1004Arg Single submitter Inborn genetic diseases ⚠
- p.Lys126Arg Single submitter Inborn genetic diseases ⚠
- p.Lys285Asn Single submitter Inborn genetic diseases ⚠
- p.Lys522Gln Single submitter ⚠
- p.Lys630Asn Single submitter Inborn genetic diseases ⚠
- p.Lys630Gln Single submitter Inborn genetic diseases
- p.Lys71Glu Single submitter Inborn genetic diseases ⚠
- p.Lys752Met Single submitter Inborn genetic diseases ⚠
- p.Lys908Thr Single submitter Inborn genetic diseases ⚠
- p.Met1074Ile Single submitter ADCY3-related disorder ⚠
- p.Met1080Thr Single submitter Inborn genetic diseases ⚠
- p.Met461Ile Single submitter ADCY3-related disorder ⚠
- p.Met658Ile Single submitter Inborn genetic diseases ⚠
- p.Met814Val Single submitter Inborn genetic diseases ⚠
- p.Met884Ile Single submitter Inborn genetic diseases ⚠
- p.Met895Lys Single submitter ⚠
- p.Phe1118Val Single submitter Inborn genetic diseases ⚠
- p.Phe468Ser Single submitter Inborn genetic diseases ⚠
- p.Phe683Leu Single submitter Inborn genetic diseases ⚠
- p.Phe847Cys Single submitter Inborn genetic diseases ⚠
- p.Phe856Tyr Single submitter Inborn genetic diseases ⚠
- p.Pro10Leu Single submitter Inborn genetic diseases ⚠
- p.Pro189Arg Single submitter Inborn genetic diseases ⚠
- p.Pro28Thr Single submitter Inborn genetic diseases ⚠
- p.Pro514Leu Single submitter Inborn genetic diseases ⚠
- p.Ser545Leu Single submitter Inborn genetic diseases ⚠
- p.Ser637Thr Single submitter Inborn genetic diseases ⚠
- p.Ser639Cys Single submitter Inborn genetic diseases ⚠
- p.Thr1077Met Single submitter Inborn genetic diseases ⚠
- p.Thr1127Ser Single submitter ⚠
- p.Thr1135Ile Single submitter Inborn genetic diseases ⚠
- p.Thr646Met Single submitter Inborn genetic diseases ⚠
- p.Thr707Ile Single submitter Inborn genetic diseases ⚠
- p.Thr732Met Single submitter Inborn genetic diseases ⚠
- p.Thr738Met Single submitter ADCY3-related disorder ⚠
- p.Thr778Met Single submitter ⚠
- p.Thr918Met Single submitter Inborn genetic diseases ⚠
- p.Thr993Ser Single submitter Inborn genetic diseases ⚠
- p.Trp703Ter Single submitter
- p.Tyr12Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr400Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr919Cys Single submitter Inborn genetic diseases ⚠
- p.Val116Met Single submitter Inborn genetic diseases ⚠
- p.Val134Phe Single submitter ⚠
- p.Val230Ile Single submitter Inborn genetic diseases ⚠
- p.Val239Ala Single submitter
- p.Val326Met Single submitter Inborn genetic diseases ⚠
- p.Val424Ile Single submitter ADCY3-related disorder ⚠
- p.Val641Ile Single submitter Inborn genetic diseases ⚠
- p.Val642Ile Single submitter ⚠
- p.Val757Leu Single submitter Inborn genetic diseases ⚠
- p.Val900Met Single submitter BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 ⚠
- c.1533+2T>A No assertion criteria ADCY3-related disorder
- c.1805+2T>A No assertion criteria ADCY3-related disorder
- c.3004-24_3004-3del No assertion criteria ADCY3-related disorder
- c.3128-8T>C No assertion criteria ADCY3-related disorder
- c.676-1G>T No assertion criteria ADCY3-related disorder
- p.Ala1051Asp No assertion criteria ADCY3-related disorder ⚠
- p.Ala162Thr No assertion criteria ADCY3-related disorder ⚠
- p.Ala238Val No assertion criteria ADCY3-related disorder ⚠
- p.Ala355Val No assertion criteria ADCY3-related disorder ⚠
- p.Ala393Pro No assertion criteria ADCY3-related disorder ⚠
- p.Ala494Val No assertion criteria ADCY3-related disorder ⚠
- p.Ala538Val No assertion criteria ADCY3-related disorder ⚠
- p.Ala555Thr No assertion criteria ADCY3-related disorder ⚠
- p.Ala600Thr No assertion criteria ADCY3-related disorder ⚠
- p.Ala786Thr No assertion criteria ADCY3-related disorder ⚠
- p.Ala816Thr No assertion criteria ADCY3-related disorder ⚠
- p.Ala85Thr No assertion criteria ADCY3-related disorder
- p.Arg1057Trp No assertion criteria ADCY3-related disorder ⚠
- p.Arg1103Ter No assertion criteria ADCY3-related disorder
- p.Arg1122Trp No assertion criteria ADCY3-related disorder ⚠
- p.Arg249His No assertion criteria ADCY3-related disorder ⚠
- p.Arg249Leu No assertion criteria ADCY3-related disorder ⚠
- p.Arg252His No assertion criteria ADCY3-related disorder ⚠
- p.Arg252Leu No assertion criteria ADCY3-related disorder ⚠
- p.Arg350Pro No assertion criteria ADCY3-related disorder ⚠
- p.Arg362Gln No assertion criteria ADCY3-related disorder ⚠
- p.Arg402Gln No assertion criteria ADCY3-related disorder
- p.Arg402Trp No assertion criteria ADCY3-related disorder ⚠
- p.Arg412His No assertion criteria ADCY3-related disorder ⚠
- p.Arg412Pro No assertion criteria ADCY3-related disorder ⚠
- p.Arg41fs No assertion criteria ADCY3-related disorder
- p.Arg565Gln No assertion criteria ADCY3-related disorder ⚠
- p.Arg568Cys No assertion criteria ADCY3-related disorder ⚠
- p.Arg685Gln No assertion criteria ADCY3-related disorder ⚠
- p.Arg700Gln No assertion criteria ADCY3-related disorder ⚠
- p.Arg796His No assertion criteria ADCY3-related disorder ⚠
- p.Arg806Cys No assertion criteria ADCY3-related disorder
- p.Arg858His No assertion criteria ADCY3-related disorder ⚠
- p.Arg880Pro No assertion criteria ADCY3-related disorder ⚠
- p.Arg902Cys No assertion criteria ADCY3-related disorder ⚠
- p.Arg950His No assertion criteria ADCY3-related disorder ⚠
- p.Asn1143Lys No assertion criteria ADCY3-related disorder ⚠
- p.Asn591Ser No assertion criteria ADCY3-related disorder ⚠
- p.Asn750Ser No assertion criteria ADCY3-related disorder ⚠
- p.Asp167Gly No assertion criteria ADCY3-related disorder ⚠
- p.Asp29Asn No assertion criteria ADCY3-related disorder ⚠
- p.Asp378Asn No assertion criteria ADCY3-related disorder ⚠
- p.Asp469Glu No assertion criteria ADCY3-related disorder ⚠
- p.Asp964Glu No assertion criteria ADCY3-related disorder
- p.Cys463Tyr No assertion criteria ADCY3-related disorder
- p.Glu1006Lys No assertion criteria ADCY3-related disorder ⚠
- p.Glu1008Ala No assertion criteria ADCY3-related disorder ⚠
- p.Glu257fs No assertion criteria ADCY3-related disorder
- p.Glu498Asp No assertion criteria ADCY3-related disorder ⚠
- p.Glu549Lys No assertion criteria ADCY3-related disorder ⚠
- p.Glu619Lys No assertion criteria ADCY3-related disorder ⚠
- p.Glu749Lys No assertion criteria ADCY3-related disorder ⚠
- p.Glu889Lys No assertion criteria ADCY3-related disorder ⚠
- p.Gly1110fs No assertion criteria ADCY3-related disorder
- p.Gly1112_Glu1113insLysGly No assertion criteria ADCY3-related disorder
- p.Gly1112Ala No assertion criteria ADCY3-related disorder ⚠
- p.Gly449Ser No assertion criteria ADCY3-related disorder ⚠
- p.Gly486Ser No assertion criteria ADCY3-related disorder ⚠
- p.Gly536Arg No assertion criteria ADCY3-related disorder ⚠
- p.Gly667Arg No assertion criteria ADCY3-related disorder ⚠
- p.Gly822Arg No assertion criteria ADCY3-related disorder ⚠
- p.His1138_Ter1145= No assertion criteria ADCY3-related disorder
- p.His163Gln No assertion criteria ADCY3-related disorder
- p.His201Tyr No assertion criteria ADCY3-related disorder ⚠
- p.His36Pro No assertion criteria ADCY3-related disorder ⚠
- p.Ile120Val No assertion criteria ADCY3-related disorder ⚠
- p.Ile181Val No assertion criteria ADCY3-related disorder ⚠
- p.Ile790Val No assertion criteria ADCY3-related disorder ⚠
- p.Leu105Val No assertion criteria ADCY3-related disorder ⚠
- p.Leu121His No assertion criteria ADCY3-related disorder ⚠
- p.Leu691Ile No assertion criteria ADCY3-related disorder ⚠
- p.Leu691Pro No assertion criteria ADCY3-related disorder ⚠
- p.Leu851Val No assertion criteria ADCY3-related disorder ⚠
- p.Leu962Pro No assertion criteria ADCY3-related disorder ⚠
- p.Lys444Asn No assertion criteria ADCY3-related disorder ⚠
- p.Lys501Asn No assertion criteria ADCY3-related disorder ⚠
- p.Lys752Glu No assertion criteria ADCY3-related disorder
- p.Met242Thr No assertion criteria ADCY3-related disorder ⚠
- p.Met616Leu No assertion criteria ADCY3-related disorder ⚠
- p.Met849Thr No assertion criteria ADCY3-related disorder
- p.Met925Ile No assertion criteria ADCY3-related disorder ⚠
- p.Met982_Ala983insVal No assertion criteria ADCY3-related disorder
- p.Phe664Cys No assertion criteria ADCY3-related disorder ⚠
- p.Pro518Arg No assertion criteria ADCY3-related disorder ⚠
- p.Pro734His No assertion criteria ADCY3-related disorder ⚠
- p.Pro751Thr No assertion criteria ADCY3-related disorder ⚠
- p.Pro834Ser No assertion criteria ADCY3-related disorder ⚠
- p.Ser1005Cys No assertion criteria ADCY3-related disorder ⚠
- p.Ser1133Cys No assertion criteria ADCY3-related disorder ⚠
- p.Ser1144Tyr No assertion criteria ADCY3-related disorder ⚠
- p.Ser13Leu No assertion criteria ADCY3-related disorder ⚠
- p.Ser21_Val22insAlaGluTyrSer No assertion criteria ADCY3-related disorder
- p.Ser26fs No assertion criteria ADCY3-related disorder
- p.Ser399Leu No assertion criteria ADCY3-related disorder
- p.Ser511= No assertion criteria ADCY3-related disorder
- p.Ser524Thr No assertion criteria ADCY3-related disorder ⚠
- p.Thr608Ala No assertion criteria ADCY3-related disorder ⚠
- p.Thr843Met No assertion criteria ADCY3-related disorder ⚠
- p.Tyr490His No assertion criteria ADCY3-related disorder ⚠
- p.Tyr754Cys No assertion criteria ADCY3-related disorder ⚠
- p.Tyr854Asp No assertion criteria ADCY3-related disorder ⚠
- p.Tyr915Cys No assertion criteria ADCY3-related disorder ⚠
- p.Val176Ala No assertion criteria ADCY3-related disorder ⚠
- p.Val318Ile No assertion criteria ADCY3-related disorder ⚠
- p.Val385Ile No assertion criteria ADCY3-related disorder ⚠
- p.Val434Met No assertion criteria ADCY3-related disorder ⚠
- p.Val499= No assertion criteria ADCY3-related disorder
- p.Val58Leu No assertion criteria ADCY3-related disorder ⚠
- p.Val602Gly No assertion criteria ADCY3-related disorder ⚠
- p.Val722Met No assertion criteria ADCY3-related disorder ⚠
- p.Val783Ile No assertion criteria ADCY3-related disorder ⚠
- p.Val787Met No assertion criteria ADCY3-related disorder ⚠
- p.Val991Ile No assertion criteria ADCY3-related disorder ⚠