CUL3 — 681 ClinVar variants
All ClinVar germline CUL3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 196 flagged for review →
66 Pathogenic · 9 Pathogenic/Likely pathogenic · 51 Likely pathogenic · 23 Conflicting · 74 Benign · 13 Benign/Likely benign · 139 Likely benign · 306 Uncertain significance
Full CUL3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 196
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CUL3 p.Ala214Gly
Pathogenic
Single submitter
pseudohypoaldosteronism type 2E
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CUL3 p.Arg128His
Conflicting
Single submitter
neurodevelopmental disorder with or without autism or seizures
- CUL3 p.Arg756Gln Conflicting Single submitter
-
CUL3 p.His701Leu
Conflicting
Single submitter
Inborn genetic diseases
-
CUL3 p.Ile741Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CUL3 p.Ile749Thr
Conflicting
Single submitter
neurodevelopmental disorder with or without autism or seizures
-
CUL3 p.Ser389Leu
Conflicting
Single submitter
Inborn genetic diseases
-
CUL3 p.Ser478Thr
Conflicting
Single submitter
Inborn genetic diseases
Predicted LoF vs a conflicting call 5
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
CUL3 c.1206+1G>T
Conflicting
Single submitter
neurodevelopmental disorder with or without autism or seizures
- CUL3 c.264+1G>T Conflicting Single submitter
-
CUL3 p.Arg546Ter
Conflicting
Single submitter
Paediatric disorders
- CUL3 p.Arg756Ter Conflicting Single submitter
-
CUL3 p.Gln551Ter
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 134
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- CUL3 p.Arg148Gln Uncertain significance Multiple submitters
-
CUL3 p.Arg153Cys
Uncertain significance
Multiple submitters
pseudohypoaldosteronism type 2E
-
CUL3 p.Arg354Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL3 p.Arg537Gly
Uncertain significance
Multiple submitters
neurodevelopmental disorder with or without autism or seizures
- CUL3 p.Arg546Gln Uncertain significance Multiple submitters
- CUL3 p.Arg761Cys Uncertain significance Multiple submitters
-
CUL3 p.Asn523Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CUL3 p.Asp26Tyr Uncertain significance Multiple submitters
-
CUL3 p.Asp698Asn
Uncertain significance
Multiple submitters
pseudohypoaldosteronism type 2E
-
CUL3 p.Gln343Arg
Uncertain significance
Multiple submitters
neurodevelopmental disorder with or without autism or seizures
-
CUL3 p.Leu722Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL3 p.Lys6Glu
Uncertain significance
Multiple submitters
pseudohypoaldosteronism type 2E
-
CUL3 p.Met603Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL3 p.Phe303Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CUL3 p.Tyr300Cys Uncertain significance Multiple submitters
-
CUL3 p.Val178Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CUL3 p.Ala207Val Uncertain significance Single submitter
-
CUL3 p.Ala327Val
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
- CUL3 p.Ala518Thr Uncertain significance Single submitter
- CUL3 p.Ala678Val Uncertain significance Single submitter
- CUL3 p.Arg11Gln Uncertain significance Single submitter
- CUL3 p.Arg162Pro Uncertain significance Single submitter
-
CUL3 p.Arg180Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with or without autism or seizures
- CUL3 p.Arg322Ser Uncertain significance Single submitter
- CUL3 p.Arg354His Uncertain significance Single submitter
-
CUL3 p.Arg364Cys
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
-
CUL3 p.Arg430His
Uncertain significance
Single submitter
CUL3-related disorder
- CUL3 p.Arg608Lys Uncertain significance Single submitter
- CUL3 p.Arg625Lys Uncertain significance Single submitter
- CUL3 p.Arg744His Uncertain significance Single submitter
- CUL3 p.Asn379Ser Uncertain significance Single submitter
- CUL3 p.Asn39His Uncertain significance Single submitter
- CUL3 p.Asn662Tyr Uncertain significance Single submitter
- CUL3 p.Asp159Asn Uncertain significance Single submitter
- CUL3 p.Asp167Glu Uncertain significance Single submitter
- CUL3 p.Asp204Asn Uncertain significance Single submitter
- CUL3 p.Asp204Tyr Uncertain significance Single submitter
- CUL3 p.Asp353Ala Uncertain significance Single submitter
- CUL3 p.Asp413Val Uncertain significance Single submitter
-
CUL3 p.Asp696Asn
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
- CUL3 p.Gln547Pro Uncertain significance Single submitter
- CUL3 p.Gln729His Uncertain significance Single submitter
- CUL3 p.Glu227Lys Uncertain significance Single submitter
- CUL3 p.Glu238Lys Uncertain significance Single submitter
- CUL3 p.Glu267Gln Uncertain significance Single submitter
-
CUL3 p.Glu574Gln
Uncertain significance
Single submitter
CUL3-related disorder
-
CUL3 p.Glu746Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL3 p.Glu752Lys
Uncertain significance
Single submitter
neurodevelopmental disorder with or without autism or seizures
- CUL3 p.Gly143Glu Uncertain significance Single submitter
- CUL3 p.Gly155Trp Uncertain significance Single submitter
- CUL3 p.Gly463Glu Uncertain significance Single submitter
- CUL3 p.Gly463Val Uncertain significance Single submitter
- CUL3 p.Gly76Ala Uncertain significance Single submitter
- CUL3 p.His112Asn Uncertain significance Single submitter
-
CUL3 p.His286Tyr
Uncertain significance
Single submitter
neurodevelopmental disorder with or without autism or seizures
-
CUL3 p.His530Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL3 p.His530Tyr Uncertain significance Single submitter
-
CUL3 p.His701Arg
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
- CUL3 p.Ile183Met Uncertain significance Single submitter
-
CUL3 p.Ile260Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL3 p.Ile276Thr Uncertain significance Single submitter
- CUL3 p.Ile276Val Uncertain significance Single submitter
- CUL3 p.Ile342Val Uncertain significance Single submitter
- CUL3 p.Ile370Leu Uncertain significance Single submitter
- CUL3 p.Ile41Asn Uncertain significance Single submitter
- CUL3 p.Ile534Thr Uncertain significance Single submitter
-
CUL3 p.Ile534Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL3 p.Ile622Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL3 p.Ile707Thr Uncertain significance Single submitter
-
CUL3 p.Ile707Val
Uncertain significance
Single submitter
neurodevelopmental disorder with or without autism or seizures
- CUL3 p.Leu348Pro Uncertain significance Single submitter
- CUL3 p.Leu357Arg Uncertain significance Single submitter
- CUL3 p.Leu412Ser Uncertain significance Single submitter
- CUL3 p.Leu418His Uncertain significance Single submitter
- CUL3 p.Leu418Phe Uncertain significance Single submitter
- CUL3 p.Leu436Val Uncertain significance Single submitter
-
CUL3 p.Leu440Arg
Uncertain significance
Single submitter
neurodevelopmental disorder with or without autism or seizures
- CUL3 p.Leu548Pro Uncertain significance Single submitter
- CUL3 p.Leu604Phe Uncertain significance Single submitter
- CUL3 p.Leu627His Uncertain significance Single submitter
- CUL3 p.Leu722Pro Uncertain significance Single submitter
- CUL3 p.Leu73Pro Uncertain significance Single submitter
-
CUL3 p.Leu754Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL3 p.Leu754Trp Uncertain significance Single submitter
- CUL3 p.Lys15Arg Uncertain significance Single submitter
- CUL3 p.Lys254Gln Uncertain significance Single submitter
- CUL3 p.Lys311Arg Uncertain significance Single submitter
- CUL3 p.Lys459Thr Uncertain significance Single submitter
-
CUL3 p.Lys521Gln
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
- CUL3 p.Lys649Asn Uncertain significance Single submitter
- CUL3 p.Lys689Arg Uncertain significance Single submitter
- CUL3 p.Lys6Arg Uncertain significance Single submitter
-
CUL3 p.Lys743Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL3 p.Lys762Arg Uncertain significance Single submitter
- CUL3 p.Lys88Arg Uncertain significance Single submitter
-
CUL3 p.Met249Val
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
- CUL3 p.Met422Leu Uncertain significance Single submitter
- CUL3 p.Met477Leu Uncertain significance Single submitter
- CUL3 p.Met484Val Uncertain significance Single submitter
-
CUL3 p.Met64Ile
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
- CUL3 p.Met717Arg Uncertain significance Single submitter
- CUL3 p.Phe419Cys Uncertain significance Single submitter
-
CUL3 p.Phe535Leu
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
-
CUL3 p.Phe597Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL3 p.Phe605Ile Uncertain significance Single submitter
- CUL3 p.Pro208Thr Uncertain significance Single submitter
- CUL3 p.Pro307Gln Uncertain significance Single submitter
-
CUL3 p.Pro385Arg
Uncertain significance
Single submitter
neurodevelopmental disorder with or without autism or seizures
- CUL3 p.Pro520Leu Uncertain significance Single submitter
- CUL3 p.Pro525Arg Uncertain significance Single submitter
- CUL3 p.Ser199Thr Uncertain significance Single submitter
-
CUL3 p.Ser304Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL3 p.Ser517Ala Uncertain significance Single submitter
-
CUL3 p.Ser556Pro
Uncertain significance
Single submitter
neurodevelopmental disorder with or without autism or seizures
- CUL3 p.Ser713Cys Uncertain significance Single submitter
- CUL3 p.Thr104Met Uncertain significance Single submitter
- CUL3 p.Thr467Met Uncertain significance Single submitter
- CUL3 p.Thr666Ala Uncertain significance Single submitter
-
CUL3 p.Thr757Arg
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
-
CUL3 p.Thr765Ala
Uncertain significance
Single submitter
neurodevelopmental disorder with or without autism or seizures
-
CUL3 p.Thr765Pro
Uncertain significance
Single submitter
neurodevelopmental disorder with or without autism or seizures
-
CUL3 p.Thr8Met
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
- CUL3 p.Tyr140Cys Uncertain significance Single submitter
- CUL3 p.Tyr201His Uncertain significance Single submitter
- CUL3 p.Tyr432Asp Uncertain significance Single submitter
- CUL3 p.Val248Met Uncertain significance Single submitter
-
CUL3 p.Val417Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL3 p.Val628Ile Uncertain significance Single submitter
- CUL3 p.Val723Ile Uncertain significance Single submitter
- CUL3 p.Val767Leu Uncertain significance Single submitter
-
CUL3 p.Val89Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL3 p.Gln516Pro
Uncertain significance
No assertion criteria
CUL3-related disorder
-
CUL3 p.Ser447Phe
Uncertain significance
No assertion criteria
CUL3-related disorder
- CUL3 p.Thr75Pro Uncertain significance No assertion criteria
Predictors split 49
The independent predictors disagree with each other — read with care.
- CUL3 p.Ala531Val Uncertain significance Multiple submitters
-
CUL3 p.Ala732Val
Uncertain significance
Multiple submitters
pseudohypoaldosteronism type 2E
-
CUL3 p.Gln617Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL3 p.Lys395Arg
Uncertain significance
Multiple submitters
pseudohypoaldosteronism type 2E
-
CUL3 p.Lys680Arg
Uncertain significance
Multiple submitters
neurodevelopmental disorder with or without autism or seizures
- CUL3 p.Val139Ile Uncertain significance Multiple submitters
-
CUL3 p.Ala186Thr
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
- CUL3 p.Ala20Val Uncertain significance Single submitter
- CUL3 p.Arg153His Uncertain significance Single submitter
- CUL3 p.Arg19Gln Uncertain significance Single submitter
-
CUL3 p.Arg46His
Conflicting
Single submitter
neurodevelopmental disorder with or without autism or seizures
-
CUL3 p.Arg506Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL3 p.Arg90Gln
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
- CUL3 p.Asp353Asn Uncertain significance Single submitter
- CUL3 p.Asp697Asn Uncertain significance Single submitter
- CUL3 p.Asp92His Uncertain significance Single submitter
- CUL3 p.Cys316Arg Uncertain significance Single submitter
-
CUL3 p.Gln188Arg
Conflicting
Single submitter
neurodevelopmental disorder with or without autism or seizures
- CUL3 p.Gln222His Uncertain significance Single submitter
- CUL3 p.Glu206Lys Uncertain significance Single submitter
-
CUL3 p.Glu609Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL3 p.Gly637Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL3 p.Gly682Ser Uncertain significance Single submitter
- CUL3 p.His286Pro Uncertain significance Single submitter
- CUL3 p.Ile260Met Uncertain significance Single submitter
- CUL3 p.Ile370Thr Uncertain significance Single submitter
-
CUL3 p.Ile41Val
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
- CUL3 p.Ile455Val Uncertain significance Single submitter
-
CUL3 p.Ile622Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL3 p.Leu102Ile
Uncertain significance
Single submitter
pseudohypoaldosteronism type 2E
- CUL3 p.Leu550Phe Uncertain significance Single submitter
- CUL3 p.Lys425Arg Uncertain significance Single submitter
- CUL3 p.Lys673Arg Uncertain significance Single submitter
-
CUL3 p.Met191Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL3 p.Met25Thr Uncertain significance Single submitter
- CUL3 p.Met273Val Uncertain significance Single submitter
- CUL3 p.Met299Val Uncertain significance Single submitter
- CUL3 p.Met416Ile Uncertain significance Single submitter
- CUL3 p.Met416Val Uncertain significance Single submitter
- CUL3 p.Met477Ile Uncertain significance Single submitter
-
CUL3 p.Pro22Leu
Uncertain significance
Single submitter
CUL3-related disorder
- CUL3 p.Ser585Cys Uncertain significance Single submitter
-
CUL3 p.Thr256Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL3 p.Thr256Met
Uncertain significance
Single submitter
neurodevelopmental disorder with or without autism or seizures
- CUL3 p.Val131Ile Uncertain significance Single submitter
- CUL3 p.Val248Ala Uncertain significance Single submitter
- CUL3 p.Val408Leu Uncertain significance Single submitter
-
CUL3 p.Gly500Asp
Likely pathogenic
No assertion criteria
NK-cell enteropathy
-
CUL3 p.Val285Ala
Pathogenic
No assertion criteria
Neurodevelopmental disorder without autism with seizures
All CUL3 variants
Pathogenic 66
- c.883+1G>T Multiple submitters neurodevelopmental disorder with or without autism or seizures
- p.Arg148Ter Multiple submitters Inborn genetic diseases
- p.Arg247Ter Multiple submitters neurodevelopmental disorder with or without autism or seizures
- p.Arg438Gly Multiple submitters CUL3-related disorder
- p.Asn453fs Multiple submitters Inborn genetic diseases
- p.Gln641Ter Multiple submitters neurodevelopmental disorder with or without autism or seizures
- p.Ile145fs Multiple submitters Inborn genetic diseases
- c.1207-26A>G Single submitter pseudohypoaldosteronism type 2A
- c.1610+2T>C Single submitter neurodevelopmental disorder with or without autism or seizures
- c.2029+1G>A Single submitter
- c.264+2T>G Single submitter neurodevelopmental disorder with or without autism or seizures
- c.883+2T>C Single submitter
- p.Ala214Gly Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Ala226fs Single submitter
- p.Ala40fs Single submitter
- p.Arg158fs Single submitter
- p.Arg709_Ile710insTer Single submitter
- p.Arg90Ter Single submitter
- p.Asn453_Met454insTer Single submitter
- p.Asp426fs Single submitter Inborn genetic diseases
- p.Gln218Ter Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Gln632fs Single submitter
- p.Gln632Ter Single submitter
- p.Glu137Ter Single submitter Inborn genetic diseases
- p.Glu172fs Single submitter
- p.Glu203Ter Single submitter
- p.Glu244Ter Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Glu265Ter Single submitter Inborn genetic diseases
- p.Glu79fs Single submitter Inborn genetic diseases
- p.Glu83Ter Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Gly197fs Single submitter CUL3-related disorder
- p.Gly656fs Single submitter
- p.Ile622fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Leu193Ter Single submitter complex neurodevelopmental disorder
- p.Leu346fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Leu412fs Single submitter
- p.Leu550fs Single submitter
- p.Leu85Pro Single submitter
- p.Lys459Met Single submitter pseudohypoaldosteronism type 2E
- p.Met317fs Single submitter
- p.Met473fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Met554fs Single submitter Inborn genetic diseases
- p.Ser221fs Single submitter CUL3-related disorder
- p.Ser255Ter Single submitter
- p.Ser450fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Ser480Ter Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Thr369fs Single submitter
- p.Thr515fs Single submitter Inborn genetic diseases
- p.Val507fs Single submitter Inborn genetic diseases
- c.1207-12T>G No assertion criteria pseudohypoaldosteronism type 2E
- c.1207-1G>A No assertion criteria pseudohypoaldosteronism type 2E
- c.1207-28T>G No assertion criteria pseudohypoaldosteronism type 2E
- c.1207-3C>T No assertion criteria pseudohypoaldosteronism type 2E
- c.1207-5T>A No assertion criteria pseudohypoaldosteronism type 2E
- c.1376_1377+4del No assertion criteria pseudohypoaldosteronism type 2A
- c.1377+1dup No assertion criteria pseudohypoaldosteronism type 2A
- c.1377+1G>C No assertion criteria pseudohypoaldosteronism type 2A
- p.Arg46fs No assertion criteria Neurodevelopmental disorder without autism with seizures
- p.Asp413fs No assertion criteria NEURODEVELOPMENTAL DISORDER WITHOUT AUTISM OR SEIZURES
- p.Glu451Ter No assertion criteria CUL3-related disorder
- p.Leu412= No assertion criteria pseudohypoaldosteronism type 2A
- p.Lys459Arg No assertion criteria pseudohypoaldosteronism type 2A
- p.Met189fs No assertion criteria neurodevelopmental disorder with or without autism or seizures
- p.Ser199Ter No assertion criteria NEURODEVELOPMENTAL DISORDER WITH AUTISM WITHOUT SEIZURES
- p.Thr587Ter No assertion criteria NEURODEVELOPMENTAL DISORDER WITH AUTISM AND SEIZURES
- p.Val285Ala No assertion criteria Neurodevelopmental disorder without autism with seizures ⚠
Pathogenic/Likely pathogenic 9
- c.1377+1G>A Multiple submitters CUL3-related disorder
- c.540_541del Multiple submitters CUL3-related disorder
- c.883+1G>A Multiple submitters
- p.Arg128Cys Multiple submitters neurodevelopmental disorder with or without autism or seizures
- p.Asp449_Ser450insTer Multiple submitters neurodevelopmental disorder with or without autism or seizures
- p.Gln368fs Multiple submitters CUL3-related disorder
- p.Leu165fs Multiple submitters Inborn genetic diseases
- p.Ser517fs Multiple submitters neurodevelopmental disorder with or without autism or seizures
- p.Tyr58Cys Multiple submitters autosomal dominant pseudohypoaldosteronism type 1
Likely pathogenic 51
- c.1377+4A>G Multiple submitters pseudohypoaldosteronism type 2E
- p.Gly143Ter Multiple submitters neurodevelopmental disorder with or without autism or seizures
- p.Lys47Ter Multiple submitters neurodevelopmental disorder with or without autism or seizures
- c.1207-12T>A Single submitter CUL3-related disorder
- c.1485+1G>C Single submitter neurodevelopmental disorder with or without autism or seizures
- c.2175+1G>A Single submitter
- c.2175+1G>C Single submitter
- c.264+1G>C Single submitter
- c.884-2del Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Ala437Val Single submitter pseudohypoaldosteronism type 2E
- p.Arg128Leu Single submitter
- p.Arg148Pro Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Arg180fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Arg247fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Arg351fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Asn290fs Single submitter
- p.Asn48fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Asp413Gly Single submitter CUL3-related disorder
- p.Cys187Tyr Single submitter CUL3-related disorder
- p.Cys462fs Single submitter
- p.Gln188Ter Single submitter neurodevelopmental disorder
- p.Glu386fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Glu407= Single submitter
- p.Gly584fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.His160fs Single submitter
- p.His543fs Single submitter pseudohypoaldosteronism type 2E
- p.His657fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Leu284fs Single submitter
- p.Leu321Phe Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Leu491fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Leu627Pro Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Lys235_Lys236insTer Single submitter
- p.Lys459= Single submitter pseudohypoaldosteronism type 2A
- p.Met191fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Met287fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Phe474fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Pro736fs Single submitter
- p.Ser304Ter Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Ser445fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Ser450Phe Single submitter CUL3-related disorder
- p.Ser96Ter Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Thr460fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Tyr62Cys Single submitter
- p.Val129fs Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Val505Asp Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Val628fs Single submitter pseudohypoaldosteronism type 2E
- p.Val65fs Single submitter CUL3-related disorder
- p.Asn134fs No assertion criteria CUL3-related disorder
- p.Gly500Asp No assertion criteria NK-cell enteropathy ⚠
- p.Ile276fs No assertion criteria Neurodevelopmental abnormality
- p.Met249Ter No assertion criteria intellectual disability
Conflicting classifications of pathogenicity 23
- c.1030-6T>C Single submitter Inborn genetic diseases
- c.1206+1G>T Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- c.264+1G>T Single submitter ⚠
- c.540-5G>A Single submitter Inborn genetic diseases
- c.-246C>T Single submitter pseudohypoaldosteronism type 2E
- c.*2130A>G Single submitter pseudohypoaldosteronism type 2E
- c.*2272T>C Single submitter pseudohypoaldosteronism type 2E
- c.*294A>G Single submitter pseudohypoaldosteronism type 2E
- p.Arg128His Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Arg46His Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Arg546Ter Single submitter Paediatric disorders ⚠
- p.Arg756Gln Single submitter ⚠
- p.Arg756Ter Single submitter ⚠
- p.Gln188Arg Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Gln551Ter Single submitter Inborn genetic diseases ⚠
- p.His701Leu Single submitter Inborn genetic diseases ⚠
- p.Ile741Thr Single submitter Inborn genetic diseases ⚠
- p.Ile749Thr Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Leu346= Single submitter pseudohypoaldosteronism type 2E
- p.Ser389Leu Single submitter Inborn genetic diseases ⚠
- p.Ser478Thr Single submitter Inborn genetic diseases ⚠
- p.Tyr431= Single submitter pseudohypoaldosteronism type 2E
- p.Val232= Single submitter
Benign 74
- c.1206+119G>T Multiple submitters
- c.1377+48T>C Multiple submitters
- c.1485+13G>A Multiple submitters pseudohypoaldosteronism type 2E
- c.1610+24T>C Multiple submitters
- c.1708-14T>A Multiple submitters pseudohypoaldosteronism type 2E
- c.2030-146C>T Multiple submitters
- c.67-11872T>C Multiple submitters
- c.883+37C>T Multiple submitters
- c.883+39C>G Multiple submitters
- c.-220C>T Multiple submitters pseudohypoaldosteronism type 2E
- c.*1774G>T Multiple submitters pseudohypoaldosteronism type 2E
- c.*2073A>G Multiple submitters pseudohypoaldosteronism type 2E
- c.*2192T>C Multiple submitters pseudohypoaldosteronism type 2E
- c.*2431G>T Multiple submitters pseudohypoaldosteronism type 2E
- c.*2653G>A Multiple submitters pseudohypoaldosteronism type 2E
- c.*2945G>C Multiple submitters pseudohypoaldosteronism type 2E
- c.*3148A>G Multiple submitters pseudohypoaldosteronism type 2E
- c.*3367T>C Multiple submitters pseudohypoaldosteronism type 2E
- c.*3672T>C Multiple submitters pseudohypoaldosteronism type 2E
- c.*3789C>T Multiple submitters pseudohypoaldosteronism type 2E
- c.*3991A>G Multiple submitters pseudohypoaldosteronism type 2E
- c.*940C>T Multiple submitters pseudohypoaldosteronism type 2E
- p.Gln664= Multiple submitters pseudohypoaldosteronism type 2E
- p.Ser231= Multiple submitters pseudohypoaldosteronism type 2E
- p.Val200= Multiple submitters pseudohypoaldosteronism type 2E
- p.Val567Ile Multiple submitters pseudohypoaldosteronism type 2E
- c.1030-18T>A Single submitter
- c.1377+275C>A Single submitter
- c.1378-206G>A Single submitter
- c.1378-207G>C Single submitter
- c.1485+7T>G Single submitter
- c.1486-141del Single submitter
- c.1486-157dup Single submitter
- c.1610+11del Single submitter
- c.1610+143A>G Single submitter
- c.1611-107CA[11] Single submitter
- c.1611-232T>C Single submitter
- c.1708-14del Single submitter
- c.1708-292A>G Single submitter
- c.1708-297A>G Single submitter
- c.1708-302A>G Single submitter
- c.1843-248A>T Single submitter
- c.2029+232T>C Single submitter
- c.2030-155_2030-154insTAAA Single submitter
- c.2175+320T>A Single submitter
- c.2176-99_2176-98insTTACT Single submitter
- c.264+136del Single submitter
- c.264+295del Single submitter
- c.265-157A>T Single submitter
- c.378+54_378+59del Single submitter
- c.379-244A>G Single submitter
- c.540-147del Single submitter
- c.540-31_540-28del Single submitter
- c.67-11683G>C Single submitter
- c.67-5388A>C Single submitter
- c.883+177C>T Single submitter
- c.-143G>A Single submitter pseudohypoaldosteronism type 2E
- c.-191GCC[10] Single submitter
- c.*124C>T Single submitter pseudohypoaldosteronism type 2E
- c.*1403A>C Single submitter pseudohypoaldosteronism type 2E
- c.*1483C>G Single submitter pseudohypoaldosteronism type 2E
- c.*1872G>C Single submitter pseudohypoaldosteronism type 2E
- c.*1934_*1937del Single submitter
- c.*2193G>A Single submitter pseudohypoaldosteronism type 2E
- c.*2863T>G Single submitter pseudohypoaldosteronism type 2E
- c.*2912T>C Single submitter pseudohypoaldosteronism type 2E
- c.*2923A>C Single submitter pseudohypoaldosteronism type 2E
- c.*3156A>G Single submitter pseudohypoaldosteronism type 2E
- c.*3463T>C Single submitter pseudohypoaldosteronism type 2E
- c.*3665T>A Single submitter pseudohypoaldosteronism type 2E
- c.*3973T>A Single submitter pseudohypoaldosteronism type 2E
- c.*669T>C Single submitter
- c.*896G>C Single submitter pseudohypoaldosteronism type 2E
- p.Ala732= Single submitter
Benign/Likely benign 13
- c.1843-9A>C Multiple submitters
- c.2029+14T>C Multiple submitters pseudohypoaldosteronism type 2E
- c.264+9C>T Multiple submitters pseudohypoaldosteronism type 2E
- c.539+12_539+15del Multiple submitters
- c.883+13G>C Multiple submitters neurodevelopmental disorder with or without autism or seizures
- c.-289G>A Multiple submitters pseudohypoaldosteronism type 2E
- p.Ala527= Multiple submitters pseudohypoaldosteronism type 2E
- p.Gly181= Multiple submitters neurodevelopmental disorder with or without autism or seizures
- p.Gly7= Multiple submitters pseudohypoaldosteronism type 2E
- p.Leu634= Multiple submitters pseudohypoaldosteronism type 2E
- p.Ser684= Multiple submitters pseudohypoaldosteronism type 2E
- p.Thr256= Multiple submitters
- p.Thr467= Multiple submitters pseudohypoaldosteronism type 2E
Likely benign 139
- c.539+4A>G Multiple submitters
- c.67-14C>T Multiple submitters
- p.Asp696= Multiple submitters
- p.Leu161= Multiple submitters
- p.Leu378= Multiple submitters Inborn genetic diseases
- p.Leu94= Multiple submitters Inborn genetic diseases
- p.Pro385= Multiple submitters
- p.Thr549= Multiple submitters pseudohypoaldosteronism type 2E
- p.Thr8= Multiple submitters
- c.1029+13A>G Single submitter
- c.1029+9A>G Single submitter
- c.1030-4T>A Single submitter
- c.1377+16G>A Single submitter
- c.1377+7T>G Single submitter
- c.1378-20T>C Single submitter
- c.1378-6C>T Single submitter
- c.1485+12C>T Single submitter
- c.1486-11G>A Single submitter
- c.1486-11G>C Single submitter
- c.1486-14T>C Single submitter
- c.1486-19C>T Single submitter
- c.1486-20T>C Single submitter
- c.1486-3T>A Single submitter
- c.1610+15G>C Single submitter
- c.1610+7C>A Single submitter
- c.1610+8A>G Single submitter
- c.1611-11A>G Single submitter
- c.1707+18G>A Single submitter
- c.1708-13A>G Single submitter
- c.1708-13A>T Single submitter
- c.1708-19T>A Single submitter
- c.1708-6A>C Single submitter
- c.1842+12G>A Single submitter
- c.1843-10G>A Single submitter
- c.1843-13G>A Single submitter
- c.1843-15C>A Single submitter
- c.2030-10T>C Single submitter
- c.2030-19G>A Single submitter
- c.2030-6T>C Single submitter
- c.2030-9C>A Single submitter
- c.2175+10C>T Single submitter
- c.2175+19T>C Single submitter
- c.2176-20C>G Single submitter
- c.2176-20C>T Single submitter
- c.264+12dup Single submitter
- c.265-8G>A Single submitter
- c.378+19A>G Single submitter
- c.378+9A>C Single submitter
- c.379-11T>G Single submitter
- c.379-18A>G Single submitter
- c.539+13T>C Single submitter
- c.539+14C>T Single submitter
- c.540-16_540-14del Single submitter
- c.540-18A>G Single submitter
- c.540-20A>G Single submitter
- c.540-6C>T Single submitter
- c.654+13A>G Single submitter
- c.654+7C>T Single submitter
- c.655-15A>T Single submitter
- c.66+11C>T Single submitter
- c.66+15G>C Single submitter
- c.66+16G>C Single submitter
- c.66+9C>G Single submitter
- c.67-10G>A Single submitter
- c.67-11889A>C Single submitter
- c.67-16C>T Single submitter
- c.67-4A>G Single submitter
- c.67-5345A>G Single submitter
- c.883+10A>C Single submitter
- c.883+12C>T Single submitter
- c.883+13G>T Single submitter
- c.883+14A>G Single submitter
- p.Ala580= Single submitter
- p.Ala724= Single submitter
- p.Ala755= Single submitter
- p.Arg11= Single submitter
- p.Arg162Gln Single submitter Inborn genetic diseases
- p.Arg266= Single submitter
- p.Arg364His Single submitter
- p.Arg475= Single submitter
- p.Arg588= Single submitter
- p.Asn138= Single submitter
- p.Asn141= Single submitter
- p.Asn361Ser Single submitter
- p.Asp393= Single submitter
- p.Asp697= Single submitter
- p.Cys156= Single submitter
- p.Gln113= Single submitter
- p.Gln132= Single submitter
- p.Gln163= Single submitter
- p.Gln489= Single submitter
- p.Gln617= Single submitter
- p.Gln718= Single submitter
- p.Glu332= Single submitter
- p.Glu56= Single submitter
- p.Glu683= Single submitter
- p.Gly194= Single submitter
- p.Gly197= Single submitter
- p.Gly297Arg Single submitter
- p.Gly565= Single submitter
- p.His160= Single submitter
- p.Ile183Val Single submitter
- p.Ile276= Single submitter
- p.Leu165= Single submitter
- p.Leu225Ter Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Leu302= Single submitter
- p.Leu356= Single submitter
- p.Leu403= Single submitter
- p.Leu441= Single submitter
- p.Leu631= Single submitter
- p.Leu66= Single submitter
- p.Leu669= Single submitter
- p.Lys223= Single submitter
- p.Lys223Thr Single submitter
- p.Lys271Arg Single submitter
- p.Lys301= Single submitter
- p.Phe352= Single submitter
- p.Pro208= Single submitter
- p.Pro528= Single submitter
- p.Pro736= Single submitter
- p.Pro738= Single submitter
- p.Ser2= Single submitter
- p.Ser213= Single submitter
- p.Ser319= Single submitter
- p.Ser382= Single submitter
- p.Ser573= Single submitter
- p.Thr104= Single submitter
- p.Thr483= Single submitter
- p.Thr483Met Single submitter
- p.Thr666= Single submitter
- p.Tyr29= Single submitter
- p.Tyr341= Single submitter
- p.Tyr766= Single submitter
- p.Val129= Single submitter
- p.Val177= Single submitter
- p.Val575= Single submitter
- p.Val763= Single submitter
- p.Val93= Single submitter
- c.66+10T>C No assertion criteria CUL3-related disorder
Uncertain significance 306
Showing the top 300 by review status; the full set is in the sitemap.
- c.1377+6G>T Multiple submitters pseudohypoaldosteronism type 2E
- c.883+3_883+6del Multiple submitters autism spectrum disorder
- c.884-5T>A Multiple submitters neurodevelopmental disorder with or without autism or seizures
- c.-201C>G Multiple submitters pseudohypoaldosteronism type 2E
- p.Ala415Thr Multiple submitters pseudohypoaldosteronism type 2E
- p.Ala531Val Multiple submitters ⚠
- p.Ala732Val Multiple submitters pseudohypoaldosteronism type 2E ⚠
- p.Arg148Gln Multiple submitters ⚠
- p.Arg153Cys Multiple submitters pseudohypoaldosteronism type 2E ⚠
- p.Arg354Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg537Gly Multiple submitters neurodevelopmental disorder with or without autism or seizures ⚠
- p.Arg546Gln Multiple submitters ⚠
- p.Arg761Cys Multiple submitters ⚠
- p.Asn523Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp26Tyr Multiple submitters ⚠
- p.Asp698Asn Multiple submitters pseudohypoaldosteronism type 2E ⚠
- p.Gln343Arg Multiple submitters neurodevelopmental disorder with or without autism or seizures ⚠
- p.Gln617Glu Multiple submitters Inborn genetic diseases ⚠
- p.Glu203del Multiple submitters
- p.Leu722Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys395Arg Multiple submitters pseudohypoaldosteronism type 2E ⚠
- p.Lys680Arg Multiple submitters neurodevelopmental disorder with or without autism or seizures ⚠
- p.Lys6Glu Multiple submitters pseudohypoaldosteronism type 2E ⚠
- p.Met603Thr Multiple submitters Inborn genetic diseases ⚠
- p.Phe303Cys Multiple submitters Inborn genetic diseases ⚠
- p.Tyr300Cys Multiple submitters ⚠
- p.Val139Ile Multiple submitters ⚠
- p.Val178Ile Multiple submitters Inborn genetic diseases ⚠
- c.1030-8T>G Single submitter
- c.1206+1G>A Single submitter
- c.1206+3_1206+4insTAC Single submitter
- c.1206+3A>C Single submitter
- c.1206+3A>T Single submitter pseudohypoaldosteronism type 2E
- c.1207-19C>G Single submitter pseudohypoaldosteronism type 2E
- c.1207-5T>G Single submitter
- c.1377+35_1377+38del Single submitter
- c.1377+3A>G Single submitter pseudohypoaldosteronism type 2E
- c.1377+4A>T Single submitter
- c.1486-3T>C Single submitter
- c.1610+10A>G Single submitter
- c.1610+4A>G Single submitter
- c.1707+1_1707+2dup Single submitter
- c.1707+5del Single submitter
- c.1842+3A>G Single submitter neurodevelopmental disorder with or without autism or seizures
- c.1843-12A>G Single submitter pseudohypoaldosteronism type 2E
- c.1843-3C>A Single submitter
- c.2029+14_2029+293del Single submitter
- c.2029+4T>C Single submitter
- c.2030-3T>C Single submitter
- c.2175+2_2175+3dup Single submitter
- c.2176-9_2176-6del Single submitter pseudohypoaldosteronism type 2E
- c.264+1270T>G Single submitter
- c.379-10_379-9del Single submitter
- c.539+5A>G Single submitter
- c.540-3C>G Single submitter
- c.654+1G>A Single submitter
- c.655-2A>G Single submitter
- c.66+5_66+10del Single submitter
- c.67-11914G>A Single submitter
- c.67-11915T>C Single submitter CUL3-related disorder
- c.884-5T>C Single submitter pseudohypoaldosteronism type 2E
- c.-118C>G Single submitter pseudohypoaldosteronism type 2E
- c.-143G>C Single submitter pseudohypoaldosteronism type 2E
- c.-169C>T Single submitter pseudohypoaldosteronism type 2E
- c.-173G>C Single submitter pseudohypoaldosteronism type 2E
- c.-185G>C Single submitter pseudohypoaldosteronism type 2E
- c.-270G>A Single submitter pseudohypoaldosteronism type 2E
- c.-291A>T Single submitter pseudohypoaldosteronism type 2E
- c.-317C>A Single submitter pseudohypoaldosteronism type 2E
- c.-51C>T Single submitter pseudohypoaldosteronism type 2E
- c.-7G>A Single submitter pseudohypoaldosteronism type 2E
- c.*13A>T Single submitter
- c.*1498C>G Single submitter pseudohypoaldosteronism type 2E
- c.*1506G>A Single submitter pseudohypoaldosteronism type 2E
- c.*1518A>T Single submitter pseudohypoaldosteronism type 2E
- c.*1883T>C Single submitter pseudohypoaldosteronism type 2E
- c.*1943A>T Single submitter pseudohypoaldosteronism type 2E
- c.*2008G>T Single submitter pseudohypoaldosteronism type 2E
- c.*207G>A Single submitter pseudohypoaldosteronism type 2E
- c.*2093A>G Single submitter pseudohypoaldosteronism type 2E
- c.*2195A>G Single submitter pseudohypoaldosteronism type 2E
- c.*2341G>C Single submitter pseudohypoaldosteronism type 2E
- c.*2424C>T Single submitter pseudohypoaldosteronism type 2E
- c.*2469G>C Single submitter pseudohypoaldosteronism type 2E
- c.*2553A>G Single submitter pseudohypoaldosteronism type 2E
- c.*2584T>C Single submitter pseudohypoaldosteronism type 2E
- c.*2689T>C Single submitter pseudohypoaldosteronism type 2E
- c.*2756G>A Single submitter pseudohypoaldosteronism type 2E
- c.*2766G>C Single submitter pseudohypoaldosteronism type 2E
- c.*2851A>C Single submitter pseudohypoaldosteronism type 2E
- c.*2854A>G Single submitter pseudohypoaldosteronism type 2E
- c.*2868T>C Single submitter pseudohypoaldosteronism type 2E
- c.*3026G>A Single submitter pseudohypoaldosteronism type 2E
- c.*3134A>T Single submitter pseudohypoaldosteronism type 2E
- c.*3392A>G Single submitter pseudohypoaldosteronism type 2E
- c.*3596A>G Single submitter pseudohypoaldosteronism type 2E
- c.*3753T>C Single submitter pseudohypoaldosteronism type 2E
- c.*3766G>A Single submitter pseudohypoaldosteronism type 2E
- c.*3810C>T Single submitter pseudohypoaldosteronism type 2E
- c.*3922A>G Single submitter pseudohypoaldosteronism type 2E
- c.*3958C>T Single submitter pseudohypoaldosteronism type 2E
- c.*4088T>C Single submitter pseudohypoaldosteronism type 2E
- c.*496A>T Single submitter pseudohypoaldosteronism type 2E
- c.*499T>C Single submitter pseudohypoaldosteronism type 2E
- c.*527A>G Single submitter pseudohypoaldosteronism type 2E
- c.*540G>A Single submitter pseudohypoaldosteronism type 2E
- c.*545A>G Single submitter pseudohypoaldosteronism type 2E
- c.*664T>G Single submitter pseudohypoaldosteronism type 2E
- c.*736A>G Single submitter pseudohypoaldosteronism type 2E
- c.*782G>T Single submitter pseudohypoaldosteronism type 2E
- c.*784G>A Single submitter pseudohypoaldosteronism type 2E
- c.*790T>G Single submitter pseudohypoaldosteronism type 2E
- c.*84C>T Single submitter pseudohypoaldosteronism type 2E
- c.*89A>T Single submitter pseudohypoaldosteronism type 2E
- c.*8T>C Single submitter pseudohypoaldosteronism type 2E
- c.*905A>G Single submitter pseudohypoaldosteronism type 2E
- c.*915A>G Single submitter pseudohypoaldosteronism type 2E
- p.Ala186Thr Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Ala207Val Single submitter ⚠
- p.Ala20Val Single submitter ⚠
- p.Ala327Val Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Ala518fs Single submitter
- p.Ala518Thr Single submitter ⚠
- p.Ala678Val Single submitter ⚠
- p.Arg11Gln Single submitter ⚠
- p.Arg153His Single submitter ⚠
- p.Arg162Pro Single submitter ⚠
- p.Arg180Thr Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Arg19Gln Single submitter ⚠
- p.Arg322fs Single submitter
- p.Arg322Ser Single submitter ⚠
- p.Arg354His Single submitter ⚠
- p.Arg364Cys Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Arg430His Single submitter CUL3-related disorder ⚠
- p.Arg438_Ser447delinsSerLeuThr Single submitter
- p.Arg488= Single submitter pseudohypoaldosteronism type 2E
- p.Arg506Trp Single submitter Inborn genetic diseases ⚠
- p.Arg529Gly Single submitter
- p.Arg608Lys Single submitter ⚠
- p.Arg625Lys Single submitter ⚠
- p.Arg744His Single submitter ⚠
- p.Arg90Gln Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Asn31_Ser32insMetTer Single submitter
- p.Asn379Ser Single submitter ⚠
- p.Asn39fs Single submitter
- p.Asn39His Single submitter ⚠
- p.Asn560Thr Single submitter
- p.Asn662Tyr Single submitter ⚠
- p.Asp159Asn Single submitter ⚠
- p.Asp167Glu Single submitter ⚠
- p.Asp204Asn Single submitter ⚠
- p.Asp204Tyr Single submitter ⚠
- p.Asp353Ala Single submitter ⚠
- p.Asp353Asn Single submitter ⚠
- p.Asp413Val Single submitter ⚠
- p.Asp696Asn Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Asp697Asn Single submitter ⚠
- p.Asp92His Single submitter ⚠
- p.Cys298Gly Single submitter pseudohypoaldosteronism type 2E
- p.Cys316Arg Single submitter ⚠
- p.Gln222His Single submitter ⚠
- p.Gln547Pro Single submitter ⚠
- p.Gln729His Single submitter ⚠
- p.Glu202fs Single submitter intellectual disability
- p.Glu206Lys Single submitter ⚠
- p.Glu227Lys Single submitter ⚠
- p.Glu238Lys Single submitter ⚠
- p.Glu267Gln Single submitter ⚠
- p.Glu332del Single submitter
- p.Glu574Gln Single submitter CUL3-related disorder ⚠
- p.Glu609Gly Single submitter Inborn genetic diseases ⚠
- p.Glu647Ter Single submitter
- p.Glu746Gln Single submitter Inborn genetic diseases ⚠
- p.Glu752Lys Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Gly143Glu Single submitter ⚠
- p.Gly155Trp Single submitter ⚠
- p.Gly333del Single submitter
- p.Gly402= Single submitter
- p.Gly463Glu Single submitter ⚠
- p.Gly463Val Single submitter ⚠
- p.Gly637Ser Single submitter Inborn genetic diseases ⚠
- p.Gly682Ser Single submitter ⚠
- p.Gly76Ala Single submitter ⚠
- p.His112Asn Single submitter ⚠
- p.His112del Single submitter
- p.His286Pro Single submitter ⚠
- p.His286Tyr Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.His530Gln Single submitter Inborn genetic diseases ⚠
- p.His530Tyr Single submitter ⚠
- p.His701Arg Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Ile183Met Single submitter ⚠
- p.Ile260Met Single submitter ⚠
- p.Ile260Val Single submitter Inborn genetic diseases ⚠
- p.Ile276Thr Single submitter ⚠
- p.Ile276Val Single submitter ⚠
- p.Ile342Val Single submitter ⚠
- p.Ile370Leu Single submitter ⚠
- p.Ile370Thr Single submitter ⚠
- p.Ile41Asn Single submitter ⚠
- p.Ile41Val Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Ile455Val Single submitter ⚠
- p.Ile534Thr Single submitter ⚠
- p.Ile534Val Single submitter Inborn genetic diseases ⚠
- p.Ile622Thr Single submitter Inborn genetic diseases ⚠
- p.Ile622Val Single submitter Inborn genetic diseases ⚠
- p.Ile707Thr Single submitter ⚠
- p.Ile707Val Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Ile749fs Single submitter
- p.Leu102Ile Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Leu195= Single submitter pseudohypoaldosteronism type 2E
- p.Leu348Pro Single submitter ⚠
- p.Leu357Arg Single submitter ⚠
- p.Leu412Ser Single submitter ⚠
- p.Leu418His Single submitter ⚠
- p.Leu418Phe Single submitter ⚠
- p.Leu436Val Single submitter ⚠
- p.Leu440Arg Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Leu548Pro Single submitter ⚠
- p.Leu550Phe Single submitter ⚠
- p.Leu604Phe Single submitter ⚠
- p.Leu627His Single submitter ⚠
- p.Leu722Pro Single submitter ⚠
- p.Leu73Pro Single submitter ⚠
- p.Leu754Ser Single submitter Inborn genetic diseases ⚠
- p.Leu754Trp Single submitter ⚠
- p.Lys15Arg Single submitter ⚠
- p.Lys254Gln Single submitter ⚠
- p.Lys311Arg Single submitter ⚠
- p.Lys425Arg Single submitter ⚠
- p.Lys452= Single submitter pseudohypoaldosteronism type 2E
- p.Lys457_Lys459del Single submitter
- p.Lys459Thr Single submitter ⚠
- p.Lys521Gln Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Lys638= Single submitter pseudohypoaldosteronism type 2E
- p.Lys649Asn Single submitter ⚠
- p.Lys673Arg Single submitter ⚠
- p.Lys689Arg Single submitter ⚠
- p.Lys6Arg Single submitter ⚠
- p.Lys743Glu Single submitter Inborn genetic diseases ⚠
- p.Lys762Arg Single submitter ⚠
- p.Lys88= Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Lys88Arg Single submitter ⚠
- p.Met191Thr Single submitter Inborn genetic diseases ⚠
- p.Met1fs Single submitter pseudohypoaldosteronism type 2E
- p.Met249Val Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Met25Thr Single submitter ⚠
- p.Met273Val Single submitter ⚠
- p.Met299Val Single submitter ⚠
- p.Met416Ile Single submitter ⚠
- p.Met416Val Single submitter ⚠
- p.Met422Leu Single submitter ⚠
- p.Met477Ile Single submitter ⚠
- p.Met477Leu Single submitter ⚠
- p.Met484Val Single submitter ⚠
- p.Met64Ile Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Met717Arg Single submitter ⚠
- p.Phe366_Gln368delinsSer Single submitter
- p.Phe419Cys Single submitter ⚠
- p.Phe535Leu Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Phe597Ser Single submitter Inborn genetic diseases ⚠
- p.Phe605Ile Single submitter ⚠
- p.Pro208Thr Single submitter ⚠
- p.Pro22Leu Single submitter CUL3-related disorder ⚠
- p.Pro307Gln Single submitter ⚠
- p.Pro385Arg Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Pro520Leu Single submitter ⚠
- p.Pro525Arg Single submitter ⚠
- p.Ser199Thr Single submitter ⚠
- p.Ser304Gly Single submitter Inborn genetic diseases ⚠
- p.Ser350= Single submitter pseudohypoaldosteronism type 2E
- p.Ser517Ala Single submitter ⚠
- p.Ser556Pro Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Ser585Cys Single submitter ⚠
- p.Ser713Cys Single submitter ⚠
- p.Thr104Met Single submitter ⚠
- p.Thr104Ser Single submitter pseudohypoaldosteronism type 2E
- p.Thr256Ala Single submitter Inborn genetic diseases ⚠
- p.Thr256Met Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Thr467Met Single submitter ⚠
- p.Thr482fs Single submitter intellectual disability
- p.Thr549Ala Single submitter pseudohypoaldosteronism type 2E
- p.Thr666Ala Single submitter ⚠
- p.Thr757Arg Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Thr765Ala Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Thr765Pro Single submitter neurodevelopmental disorder with or without autism or seizures ⚠
- p.Thr8Met Single submitter pseudohypoaldosteronism type 2E ⚠
- p.Trp513Ter Single submitter neurodevelopmental disorder with or without autism or seizures
- p.Tyr140Cys Single submitter ⚠
- p.Tyr201His Single submitter ⚠
- p.Tyr432Asp Single submitter ⚠
- p.Tyr611Asn Single submitter
- p.Tyr766Ter Single submitter
- p.Val131Ile Single submitter ⚠
- p.Val178del Single submitter
- p.Val248Ala Single submitter ⚠
- p.Val248Met Single submitter ⚠
- p.Val408Leu Single submitter ⚠
- p.Val417Ile Single submitter Inborn genetic diseases ⚠
- p.Val628Ile Single submitter ⚠
- p.Val723Ile Single submitter ⚠