CUL4B — 446 ClinVar variants
All ClinVar germline CUL4B variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 155 flagged for review →
34 Pathogenic · 1 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 13 Conflicting · 32 Benign · 22 Benign/Likely benign · 133 Likely benign · 185 Uncertain significance
Full CUL4B gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 155
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 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
- CUL4B p.Asn141Ser Likely pathogenic Single submitter
-
CUL4B p.Leu262Met
Pathogenic
No assertion criteria
X-linked intellectual disability, Cabezas type
Predictors agree, ClinVar conflicts 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CUL4B p.Ala437Thr
Conflicting
Single submitter
Inborn genetic diseases
-
CUL4B p.Arg596Cys
Conflicting
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Arg878Gln
Conflicting
Single submitter
syndromic X-linked intellectual disability 5
-
CUL4B p.Gly7Glu
Conflicting
Single submitter
Inborn genetic diseases
- CUL4B p.His255Tyr Conflicting Single submitter
-
CUL4B p.Leu107Val
Conflicting
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Pro32Leu
Conflicting
No assertion criteria
X-linked intellectual disability, Cabezas type
Predictors lean, ClinVar uncertain 116
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CUL4B p.Ala16Pro
Uncertain significance
Multiple submitters
X-linked intellectual disability, Cabezas type
-
CUL4B p.Cys712Arg
Uncertain significance
Multiple submitters
X-linked intellectual disability, Cabezas type
- CUL4B p.Gln200Lys Uncertain significance Multiple submitters
-
CUL4B p.Gln98His
Uncertain significance
Multiple submitters
X-linked intellectual disability, Cabezas type
-
CUL4B p.Gly26Ser
Uncertain significance
Multiple submitters
X-linked intellectual disability, Cabezas type
-
CUL4B p.His397Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL4B p.Ile332Thr
Uncertain significance
Multiple submitters
X-linked intellectual disability, Cabezas type
-
CUL4B p.Met302Val
Uncertain significance
Multiple submitters
X-linked intellectual disability, Cabezas type
-
CUL4B p.Met309Thr
Uncertain significance
Multiple submitters
X-linked intellectual disability, Cabezas type
-
CUL4B p.Ser166Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CUL4B p.Tyr580His
Uncertain significance
Multiple submitters
X-linked intellectual disability, Cabezas type
-
CUL4B p.Val297Ile
Uncertain significance
Multiple submitters
X-linked intellectual disability, Cabezas type
- CUL4B p.Ala114Val Uncertain significance Single submitter
-
CUL4B p.Ala15Thr
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Ala16Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL4B p.Ala17Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL4B p.Ala603Pro Uncertain significance Single submitter
-
CUL4B p.Ala776Val
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Arg21Thr Uncertain significance Single submitter
-
CUL4B p.Arg294Ile
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Arg377Gln
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Arg451Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL4B p.Arg466Gln Uncertain significance Single submitter
-
CUL4B p.Arg802Trp
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Arg828Gly Uncertain significance Single submitter
- CUL4B p.Arg871Lys Uncertain significance Single submitter
- CUL4B p.Arg878Trp Uncertain significance Single submitter
- CUL4B p.Asn211Ser Uncertain significance Single submitter
- CUL4B p.Asn218Ser Uncertain significance Single submitter
-
CUL4B p.Asn53Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL4B p.Asp10Ala
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Asp408Gly Uncertain significance Single submitter
- CUL4B p.Asp454Gly Uncertain significance Single submitter
-
CUL4B p.Asp494Asn
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Asp506Gly Uncertain significance Single submitter
-
CUL4B p.Asp57Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL4B p.Asp583Tyr
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Asp592Tyr Uncertain significance Single submitter
- CUL4B p.Asp59Asn Uncertain significance Single submitter
- CUL4B p.Asp633Glu Uncertain significance Single submitter
-
CUL4B p.Asp74Asn
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Gln369Arg
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Gln474Arg Uncertain significance Single submitter
-
CUL4B p.Gln474Pro
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Glu618Gln
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Glu854Asp Uncertain significance Single submitter
- CUL4B p.Gly600Arg Uncertain significance Single submitter
- CUL4B p.Gly620Val Uncertain significance Single submitter
- CUL4B p.Gly7Val Uncertain significance Single submitter
- CUL4B p.His154Arg Uncertain significance Single submitter
-
CUL4B p.His255Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL4B p.His698Tyr
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Ile146Thr Uncertain significance Single submitter
- CUL4B p.Ile215Val Uncertain significance Single submitter
-
CUL4B p.Ile271Phe
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Ile306Val
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Ile318Ser
Uncertain significance
Single submitter
CUL4B-related disorder
-
CUL4B p.Ile329Thr
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Ile452Met
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Ile803Arg Uncertain significance Single submitter
-
CUL4B p.Ile836Val
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Leu311Gln
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Leu372Val Uncertain significance Single submitter
-
CUL4B p.Leu386Ser
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Leu431Pro
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Leu593Ser Uncertain significance Single submitter
-
CUL4B p.Leu612Pro
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Leu615Arg
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Leu636Phe Uncertain significance Single submitter
- CUL4B p.Leu767Ser Uncertain significance Single submitter
-
CUL4B p.Lys505Asn
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Lys715Arg Uncertain significance Single submitter
-
CUL4B p.Lys799Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL4B p.Lys841Asn
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Lys869Asn Uncertain significance Single submitter
- CUL4B p.Phe109Leu Uncertain significance Single submitter
- CUL4B p.Phe522Cys Uncertain significance Single submitter
-
CUL4B p.Phe530Leu
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Phe533Cys
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Phe644Leu Uncertain significance Single submitter
- CUL4B p.Phe693Val Uncertain significance Single submitter
-
CUL4B p.Pro304Leu
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Pro32Thr Uncertain significance Single submitter
-
CUL4B p.Pro680Leu
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Pro681Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL4B p.Pro72Leu Uncertain significance Single submitter
- CUL4B p.Ser22Phe Uncertain significance Single submitter
- CUL4B p.Ser305Cys Uncertain significance Single submitter
- CUL4B p.Ser35Cys Uncertain significance Single submitter
- CUL4B p.Ser421Thr Uncertain significance Single submitter
- CUL4B p.Ser5Ala Uncertain significance Single submitter
-
CUL4B p.Ser745Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL4B p.Ser75Leu
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Ser81Leu
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Ser93Arg
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Thr130Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL4B p.Thr30Ala Uncertain significance Single submitter
-
CUL4B p.Thr425Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL4B p.Thr561Ile
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Thr753Ile
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Thr813Met Uncertain significance Single submitter
- CUL4B p.Tyr194Cys Uncertain significance Single submitter
-
CUL4B p.Tyr232Phe
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Tyr668Cys Uncertain significance Single submitter
- CUL4B p.Tyr893Asn Uncertain significance Single submitter
- CUL4B p.Val165Ala Uncertain significance Single submitter
- CUL4B p.Val265Ile Uncertain significance Single submitter
- CUL4B p.Val684Ala Uncertain significance Single submitter
- CUL4B p.Val95Leu Uncertain significance Single submitter
-
CUL4B p.Ala835Val
Uncertain significance
No assertion criteria
X-linked intellectual disability, Cabezas type
-
CUL4B p.Asp884Asn
Uncertain significance
No assertion criteria
X-linked intellectual disability, Cabezas type
-
CUL4B p.Glu374Gly
Uncertain significance
No assertion criteria
Seizure
-
CUL4B p.Lys782Arg
Uncertain significance
No assertion criteria
CUL4B-related disorder
-
CUL4B p.Pro681Leu
Uncertain significance
No assertion criteria
CUL4B-related disorder
-
CUL4B p.Pro78Ala
Uncertain significance
No assertion criteria
CUL4B-related disorder
-
CUL4B p.Thr67Ile
Uncertain significance
No assertion criteria
CUL4B-related disorder
Predictors split 30
The independent predictors disagree with each other — read with care.
-
CUL4B p.Lys401Gln
Uncertain significance
Multiple submitters
X-linked intellectual disability, Cabezas type
-
CUL4B p.Phe103Leu
Uncertain significance
Multiple submitters
X-linked intellectual disability, Cabezas type
-
CUL4B p.Arg466Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL4B p.Asn211Asp Uncertain significance Single submitter
-
CUL4B p.Asn237Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CUL4B p.Asn524Ser Uncertain significance Single submitter
- CUL4B p.Asp263Glu Uncertain significance Single submitter
- CUL4B p.Asp448Gly Uncertain significance Single submitter
-
CUL4B p.Asp786Asn
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Asp884Glu
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Gln361Arg Uncertain significance Single submitter
- CUL4B p.Glu720Lys Uncertain significance Single submitter
- CUL4B p.Glu785Gly Uncertain significance Single submitter
-
CUL4B p.Gly467Cys
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Ile345Thr Uncertain significance Single submitter
-
CUL4B p.Leu435Phe
Conflicting
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Lys216Asn
Uncertain significance
Single submitter
oligospermia
- CUL4B p.Lys37Asn Uncertain significance Single submitter
-
CUL4B p.Lys797Ile
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Met675Val
Benign
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Ser120Tyr Uncertain significance Single submitter
- CUL4B p.Ser167Arg Uncertain significance Single submitter
-
CUL4B p.Ser301Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CUL4B p.Ser456Phe
Uncertain significance
Single submitter
CUL4B-related disorder
-
CUL4B p.Ser551Thr
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Ser63Phe
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Ser66Phe
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
-
CUL4B p.Ser66Tyr
Uncertain significance
Single submitter
X-linked intellectual disability, Cabezas type
- CUL4B p.Tyr856Phe Uncertain significance Single submitter
-
CUL4B p.Glu221Asp
Uncertain significance
No assertion criteria
CUL4B-related disorder
All CUL4B variants
Pathogenic 34
- p.Arg370Ter Multiple submitters X-linked intellectual disability, Cabezas type
- p.Gln241Ter Multiple submitters X-linked intellectual disability, Cabezas type
- p.Ile318fs Multiple submitters X-linked intellectual disability, Cabezas type
- p.Leu714fs Multiple submitters
- c.1741_1741+8del Single submitter X-linked intellectual disability, Cabezas type
- c.1742-2A>G Single submitter X-linked intellectual disability, Cabezas type
- c.1852+1G>T Single submitter CUL4B-related X-linked intellectual disability
- c.2439+2T>C Single submitter
- c.777-1G>A Single submitter
- p.Arg451Ter Single submitter
- p.Arg554Cys Single submitter X-linked intellectual disability, Cabezas type
- p.Arg828fs Single submitter
- p.Arg838Ter Single submitter intellectual disability
- p.Asn450fs Single submitter
- p.Gln253fs Single submitter intellectual disability
- p.Gln416Ter Single submitter
- p.Gln649Ter Single submitter
- p.Gln726Ter Single submitter
- p.Glu389Ter Single submitter Inborn genetic diseases
- p.Glu720Ter Single submitter
- p.Glu756Ter Single submitter X-linked intellectual disability, Cabezas type
- p.Leu268fs Single submitter
- p.Leu290fs Single submitter
- p.Leu360Ter Single submitter X-linked intellectual disability, Cabezas type
- p.Leu846fs Single submitter
- p.Lys401fs Single submitter X-linked intellectual disability, Cabezas type
- p.Lys691fs Single submitter X-linked intellectual disability, Cabezas type
- p.Phe462fs Single submitter X-linked intellectual disability, Cabezas type
- p.Phe730fs Single submitter
- p.Tyr647fs Single submitter
- p.Val469fs Single submitter X-linked intellectual disability, Cabezas type
- c.847-2A>G No assertion criteria X-linked intellectual disability, Cabezas type
- p.Leu262Met No assertion criteria X-linked intellectual disability, Cabezas type ⚠
- p.Thr561fs No assertion criteria X-linked intellectual disability, Cabezas type
Pathogenic/Likely pathogenic 1
- p.Thr813= Multiple submitters X-linked intellectual disability, Cabezas type
Likely pathogenic 26
- p.Arg351Ter Multiple submitters X-linked intellectual disability, Cabezas type
- c.1444-1G>A Single submitter X-linked intellectual disability, Cabezas type
- c.1637-3T>A Single submitter X-linked intellectual disability, Cabezas type
- c.1741+4_1741+7del Single submitter X-linked intellectual disability, Cabezas type
- c.1852+1del Single submitter Inborn genetic diseases
- c.1852+1G>A Single submitter Inborn genetic diseases
- c.2267-2A>G Single submitter CUL4B-related disorders
- c.2592+1G>T Single submitter
- c.777-2dup Single submitter
- p.Arg402Gly Single submitter Inborn genetic diseases
- p.Arg466Ter Single submitter X-linked intellectual disability, Cabezas type
- p.Arg596Leu Single submitter
- p.Asn141Ser Single submitter ⚠
- p.Asp879fs Single submitter
- p.Gln241fs Single submitter X-linked intellectual disability, Cabezas type
- p.Gln475fs Single submitter X-linked intellectual disability, Cabezas type
- p.Gln858_Leu859insTer Single submitter X-linked intellectual disability, Cabezas type
- p.Gln890Ter Single submitter
- p.Glu259Ter Single submitter X-linked intellectual disability, Cabezas type
- p.His249fs Single submitter
- p.His798fs Single submitter X-linked intellectual disability, Cabezas type
- p.Phe801fs Single submitter X-linked intellectual disability, Cabezas type
- p.Trp476Ter Single submitter X-linked intellectual disability, Cabezas type
- p.Tyr232Ter Single submitter X-linked intellectual disability, Cabezas type
- p.Ile336fs No assertion criteria X-linked intellectual disability, Cabezas type
- p.Trp307_Asp308delinsTer No assertion criteria X-linked intellectual disability, Cabezas type
Conflicting classifications of pathogenicity 13
- c.1257-5T>C Single submitter
- c.67+10T>C Single submitter X-linked intellectual disability, Cabezas type
- c.920+9G>A Single submitter X-linked intellectual disability, Cabezas type
- c.*7G>A Single submitter
- p.Ala437Thr Single submitter Inborn genetic diseases ⚠
- p.Arg596Cys Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Arg878Gln Single submitter syndromic X-linked intellectual disability 5 ⚠
- p.Gly7Glu Single submitter Inborn genetic diseases ⚠
- p.His255Tyr Single submitter ⚠
- p.Leu107Val Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Leu435Phe Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ser126_Ser128del Single submitter X-linked intellectual disability, Cabezas type
- p.Pro32Leu No assertion criteria X-linked intellectual disability, Cabezas type ⚠
Benign 32
- c.1174-20G>A Multiple submitters X-linked intellectual disability, Cabezas type
- c.1324+15G>A Multiple submitters Inborn genetic diseases
- c.2160+127A>T Multiple submitters
- c.2593-90G>A Multiple submitters
- c.556+301G>A Multiple submitters
- c.776+185G>A Multiple submitters
- c.776+7dup Multiple submitters X-linked intellectual disability, Cabezas type
- c.921-90T>G Multiple submitters
- c.1256+194GT[15] Single submitter
- c.1256+194GT[16] Single submitter
- c.1256+194GT[17] Single submitter
- c.1256+199del Single submitter
- c.1256+25_1256+26del Single submitter
- c.1444-140A>G Single submitter
- c.1636+11C>T Single submitter X-linked intellectual disability, Cabezas type
- c.1637-13T>C Single submitter X-linked intellectual disability, Cabezas type
- c.1853-19G>A Single submitter X-linked intellectual disability, Cabezas type
- c.2161-15T>C Single submitter X-linked intellectual disability, Cabezas type
- c.2266+291A>T Single submitter
- c.2592+149dup Single submitter
- c.672+188A>G Single submitter
- c.68-748C>T Single submitter
- c.846+298C>T Single submitter
- p.Ala344Thr Single submitter X-linked intellectual disability, Cabezas type
- p.Arg273= Single submitter X-linked intellectual disability, Cabezas type
- p.Asp633= Single submitter X-linked intellectual disability, Cabezas type
- p.Gln369= Single submitter X-linked intellectual disability, Cabezas type
- p.Ile657Thr Single submitter X-linked intellectual disability, Cabezas type
- p.Met675Val Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Pro173= Single submitter X-linked intellectual disability, Cabezas type
- p.Ser264= Single submitter X-linked intellectual disability, Cabezas type
- p.Thr436= Single submitter X-linked intellectual disability, Cabezas type
Benign/Likely benign 22
- c.1257-19T>C Multiple submitters X-linked intellectual disability, Cabezas type
- c.1257-9del Multiple submitters X-linked intellectual disability, Cabezas type
- c.1257-9dup Multiple submitters X-linked intellectual disability, Cabezas type
- c.1742-5C>T Multiple submitters X-linked intellectual disability, Cabezas type
- c.1939-19T>C Multiple submitters X-linked intellectual disability, Cabezas type
- c.2046+6A>C Multiple submitters X-linked intellectual disability, Cabezas type
- c.2161-15T>G Multiple submitters X-linked intellectual disability, Cabezas type
- c.2266+4T>A Multiple submitters X-linked intellectual disability, Cabezas type
- c.557-20A>G Multiple submitters X-linked intellectual disability, Cabezas type
- c.777-12C>T Multiple submitters X-linked intellectual disability, Cabezas type
- c.847-10del Multiple submitters Inborn genetic diseases
- p.Ala381= Multiple submitters X-linked intellectual disability, Cabezas type
- p.Arg878= Multiple submitters Inborn genetic diseases
- p.Cys619= Multiple submitters Inborn genetic diseases
- p.Gln388= Multiple submitters Inborn genetic diseases
- p.Gly22Asp Multiple submitters X-linked intellectual disability, Cabezas type
- p.Gly9Glu Multiple submitters Inborn genetic diseases
- p.His249= Multiple submitters X-linked intellectual disability, Cabezas type
- p.Pro654= Multiple submitters X-linked intellectual disability, Cabezas type
- p.Ser122= Multiple submitters X-linked intellectual disability, Cabezas type
- p.Ser47_Ser49del Multiple submitters X-linked intellectual disability, Cabezas type
- p.Val599= Multiple submitters Inborn genetic diseases
Likely benign 133
- c.1256+47C>T Multiple submitters
- c.1257-14T>C Multiple submitters X-linked intellectual disability, Cabezas type
- c.672+13A>G Multiple submitters X-linked intellectual disability, Cabezas type
- p.Asp550= Multiple submitters X-linked intellectual disability, Cabezas type
- p.Asp884= Multiple submitters Inborn genetic diseases
- p.Gln281= Multiple submitters X-linked intellectual disability, Cabezas type
- p.Glu404= Multiple submitters X-linked intellectual disability, Cabezas type
- p.Ile574= Multiple submitters Inborn genetic diseases
- p.Leu565= Multiple submitters Inborn genetic diseases
- p.Leu85= Multiple submitters
- p.Ser128del Multiple submitters X-linked intellectual disability, Cabezas type
- c.1173+16G>A Single submitter X-linked intellectual disability, Cabezas type
- c.1173+18C>G Single submitter
- c.1256+12A>G Single submitter X-linked intellectual disability, Cabezas type
- c.1256+18A>T Single submitter X-linked intellectual disability, Cabezas type
- c.1256+194GT[14] Single submitter
- c.1256+194GT[20] Single submitter
- c.1256+4del Single submitter Inborn genetic diseases
- c.1257-10_1257-9del Single submitter
- c.1324+9C>A Single submitter X-linked intellectual disability, Cabezas type
- c.1325-292A>G Single submitter
- c.1325-4A>G Single submitter X-linked intellectual disability, Cabezas type
- c.1444-35C>T Single submitter
- c.1444-4T>G Single submitter X-linked intellectual disability, Cabezas type
- c.1636+13G>A Single submitter X-linked intellectual disability, Cabezas type
- c.1852+69C>T Single submitter
- c.1853-37C>T Single submitter
- c.1938+136dup Single submitter
- c.1939-4A>G Single submitter X-linked intellectual disability, Cabezas type
- c.2160+8G>A Single submitter X-linked intellectual disability, Cabezas type
- c.2161-137C>T Single submitter
- c.2266+245G>A Single submitter
- c.2266+33C>G Single submitter
- c.2267-248G>A Single submitter
- c.2439+11C>A Single submitter X-linked intellectual disability, Cabezas type
- c.2593-16T>C Single submitter X-linked intellectual disability, Cabezas type
- c.2593-18A>C Single submitter X-linked intellectual disability, Cabezas type
- c.2593-221dup Single submitter
- c.556+266T>C Single submitter
- c.557-11A>G Single submitter X-linked intellectual disability, Cabezas type
- c.672+154G>A Single submitter
- c.672+18T>C Single submitter X-linked intellectual disability, Cabezas type
- c.672+301G>T Single submitter
- c.672+3A>G Single submitter
- c.672+4T>G Single submitter
- c.673-10A>G Single submitter X-linked intellectual disability, Cabezas type
- c.673-16T>C Single submitter
- c.68-788G>C Single submitter
- c.776+12A>G Single submitter X-linked intellectual disability, Cabezas type
- c.776+13A>G Single submitter X-linked intellectual disability, Cabezas type
- c.776+224T>C Single submitter
- c.777-11A>G Single submitter X-linked intellectual disability, Cabezas type
- c.777-160T>A Single submitter
- c.777-9A>G Single submitter
- c.847-184A>T Single submitter
- c.847-237C>T Single submitter
- c.847-95A>G Single submitter
- c.921-225A>G Single submitter
- c.-13-198G>A Single submitter
- c.-14G>A Single submitter
- c.-48A>G Single submitter
- p.Ala316Thr Single submitter
- p.Ala90= Single submitter X-linked intellectual disability, Cabezas type
- p.Arg377= Single submitter
- p.Arg464= Single submitter X-linked intellectual disability, Cabezas type
- p.Arg466= Single submitter X-linked intellectual disability, Cabezas type
- p.Asn445= Single submitter
- p.Asp346= Single submitter Inborn genetic diseases
- p.Cys515= Single submitter Inborn genetic diseases
- p.Gln706= Single submitter X-linked intellectual disability, Cabezas type
- p.Gly484= Single submitter X-linked intellectual disability, Cabezas type
- p.Gly5= Single submitter X-linked intellectual disability, Cabezas type
- p.Gly770= Single submitter
- p.His317Tyr Single submitter
- p.Ile283= Single submitter X-linked intellectual disability, Cabezas type
- p.Ile318= Single submitter X-linked intellectual disability, Cabezas type
- p.Leu357= Single submitter X-linked intellectual disability, Cabezas type
- p.Leu446= Single submitter X-linked intellectual disability, Cabezas type
- p.Leu760= Single submitter X-linked intellectual disability, Cabezas type
- p.Leu764= Single submitter X-linked intellectual disability, Cabezas type
- p.Lys558= Single submitter X-linked intellectual disability, Cabezas type
- p.Phe623= Single submitter
- p.Pro191= Single submitter X-linked intellectual disability, Cabezas type
- p.Pro3= Single submitter X-linked intellectual disability, Cabezas type
- p.Pro72= Single submitter X-linked intellectual disability, Cabezas type
- p.Ser126= Single submitter X-linked intellectual disability, Cabezas type
- p.Ser261= Single submitter X-linked intellectual disability, Cabezas type
- p.Ser29Thr Single submitter Inborn genetic diseases
- p.Ser348= Single submitter X-linked intellectual disability, Cabezas type
- p.Ser463= Single submitter X-linked intellectual disability, Cabezas type
- p.Ser625= Single submitter
- p.Thr133= Single submitter
- p.Thr18Ala Single submitter Inborn genetic diseases
- p.Thr328= Single submitter X-linked intellectual disability, Cabezas type
- p.Val774= Single submitter X-linked intellectual disability, Cabezas type
- c.1257-7dup No assertion criteria CUL4B-related disorder
- c.1257-9T>C No assertion criteria CUL4B-related disorder
- c.1852+4G>T No assertion criteria CUL4B-related disorder
- c.1852+9C>G No assertion criteria CUL4B-related disorder
- c.2440-6del No assertion criteria CUL4B-related disorder
- c.28+9G>C No assertion criteria CUL4B-related disorder
- c.67+9dup No assertion criteria CUL4B-related disorder
- p.Ala117= No assertion criteria CUL4B-related disorder
- p.Ala236= No assertion criteria CUL4B-related disorder
- p.Arg315= No assertion criteria CUL4B-related disorder
- p.Asp14= No assertion criteria CUL4B-related disorder
- p.Gln136= No assertion criteria CUL4B-related disorder
- p.Gln137= No assertion criteria CUL4B-related disorder
- p.Gln200= No assertion criteria CUL4B-related disorder
- p.Gln210= No assertion criteria CUL4B-related disorder
- p.Glu192= No assertion criteria CUL4B-related disorder
- p.Glu394= No assertion criteria CUL4B-related disorder
- p.Gly600= No assertion criteria CUL4B-related disorder
- p.Ile663= No assertion criteria CUL4B-related disorder
- p.Ile784= No assertion criteria CUL4B-related disorder
- p.Ile805= No assertion criteria CUL4B-related disorder
- p.Leu238= No assertion criteria CUL4B-related disorder
- p.Leu501= No assertion criteria CUL4B-related disorder
- p.Leu597= No assertion criteria CUL4B-related disorder
- p.Leu612= No assertion criteria CUL4B-related disorder
- p.Leu695= No assertion criteria CUL4B-related disorder
- p.Lys201= No assertion criteria CUL4B-related disorder
- p.Lys601= No assertion criteria CUL4B-related disorder
- p.Lys702= No assertion criteria CUL4B-related disorder
- p.Lys723= No assertion criteria CUL4B-related disorder
- p.Phe483= No assertion criteria CUL4B-related disorder
- p.Phe790= No assertion criteria CUL4B-related disorder
- p.Pro670= No assertion criteria CUL4B-related disorder
- p.Ser5= No assertion criteria CUL4B-related disorder
- p.Ser79= No assertion criteria CUL4B-related disorder
- p.Thr198= No assertion criteria CUL4B-related disorder
- p.Thr532= No assertion criteria CUL4B-related disorder
- p.Thr692= No assertion criteria CUL4B-related disorder
Uncertain significance 185
- c.2592+3A>T Multiple submitters X-linked intellectual disability, Cabezas type
- c.777-3C>T Multiple submitters X-linked intellectual disability, Cabezas type
- p.Ala16Pro Multiple submitters X-linked intellectual disability, Cabezas type ⚠
- p.Ala17dup Multiple submitters X-linked intellectual disability, Cabezas type
- p.Cys712Arg Multiple submitters X-linked intellectual disability, Cabezas type ⚠
- p.Gln200Lys Multiple submitters ⚠
- p.Gln98His Multiple submitters X-linked intellectual disability, Cabezas type ⚠
- p.Gly26Ser Multiple submitters X-linked intellectual disability, Cabezas type ⚠
- p.His397Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile319del Multiple submitters X-linked intellectual disability, Cabezas type
- p.Ile332Thr Multiple submitters X-linked intellectual disability, Cabezas type ⚠
- p.Lys401Gln Multiple submitters X-linked intellectual disability, Cabezas type ⚠
- p.Met302Val Multiple submitters X-linked intellectual disability, Cabezas type ⚠
- p.Met309Thr Multiple submitters X-linked intellectual disability, Cabezas type ⚠
- p.Phe103Leu Multiple submitters X-linked intellectual disability, Cabezas type ⚠
- p.Ser162del Multiple submitters X-linked intellectual disability, Cabezas type
- p.Ser166Pro Multiple submitters Inborn genetic diseases ⚠
- p.Tyr580His Multiple submitters X-linked intellectual disability, Cabezas type ⚠
- p.Val297Ile Multiple submitters X-linked intellectual disability, Cabezas type ⚠
- c.1256+5G>A Single submitter X-linked intellectual disability, Cabezas type
- c.1257-10T>C Single submitter Inborn genetic diseases
- c.1325-3C>T Single submitter Inborn genetic diseases
- c.1443+230C>T Single submitter X-linked intellectual disability, Cabezas type
- c.1443+3A>G Single submitter Inborn genetic diseases
- c.1637-16T>G Single submitter
- c.1852+3A>G Single submitter X-linked intellectual disability, Cabezas type
- c.1853-13A>G Single submitter X-linked intellectual disability, Cabezas type
- c.1939-6_1939-3delinsA Single submitter
- c.2047-3T>C Single submitter X-linked intellectual disability, Cabezas type
- c.2161-5_2161-4delinsTG Single submitter X-linked intellectual disability, Cabezas type
- c.2593-2A>G Single submitter X-linked intellectual disability, Cabezas type
- c.2593-3C>T Single submitter X-linked intellectual disability, Cabezas type
- c.673-21_673-19del Single submitter X-linked intellectual disability, Cabezas type
- c.673-9A>G Single submitter X-linked intellectual disability, Cabezas type
- c.777-9_777-8del Single submitter X-linked intellectual disability, Cabezas type
- c.*2432A>G Single submitter
- c.*552T>C Single submitter
- p.48SSN[1] Single submitter
- p.Ala114Val Single submitter ⚠
- p.Ala15Thr Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ala16Asp Single submitter Inborn genetic diseases ⚠
- p.Ala17del Single submitter
- p.Ala17Thr Single submitter Inborn genetic diseases ⚠
- p.Ala603Pro Single submitter ⚠
- p.Ala776Val Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Arg21Thr Single submitter ⚠
- p.Arg294Ile Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Arg377Gln Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Arg451Gln Single submitter Inborn genetic diseases ⚠
- p.Arg466Gln Single submitter ⚠
- p.Arg466Pro Single submitter Inborn genetic diseases ⚠
- p.Arg802Trp Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Arg828Gly Single submitter ⚠
- p.Arg871Lys Single submitter ⚠
- p.Arg878Trp Single submitter ⚠
- p.Asn211Asp Single submitter ⚠
- p.Asn211Ser Single submitter ⚠
- p.Asn218Ser Single submitter ⚠
- p.Asn237Asp Single submitter Inborn genetic diseases ⚠
- p.Asn524Ser Single submitter ⚠
- p.Asn53Lys Single submitter Inborn genetic diseases ⚠
- p.Asp105Val Single submitter
- p.Asp10Ala Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Asp263Glu Single submitter ⚠
- p.Asp330His Single submitter X-linked intellectual disability, Cabezas type
- p.Asp408Gly Single submitter ⚠
- p.Asp448Gly Single submitter ⚠
- p.Asp454Gly Single submitter ⚠
- p.Asp494Asn Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Asp506Gly Single submitter ⚠
- p.Asp57Glu Single submitter Inborn genetic diseases ⚠
- p.Asp583Tyr Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Asp592Tyr Single submitter ⚠
- p.Asp59Asn Single submitter ⚠
- p.Asp633Glu Single submitter ⚠
- p.Asp74Asn Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Asp786Asn Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Asp884Glu Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Gln361= Single submitter X-linked intellectual disability, Cabezas type
- p.Gln361Arg Single submitter ⚠
- p.Gln369Arg Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Gln474Arg Single submitter ⚠
- p.Gln474Pro Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Glu56del Single submitter
- p.Glu618Gln Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Glu720Lys Single submitter ⚠
- p.Glu785Gly Single submitter ⚠
- p.Glu854Asp Single submitter ⚠
- p.Gly467Cys Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Gly581= Single submitter X-linked intellectual disability, Cabezas type
- p.Gly600Arg Single submitter ⚠
- p.Gly620Val Single submitter ⚠
- p.Gly7Val Single submitter ⚠
- p.His154Arg Single submitter ⚠
- p.His255Asp Single submitter Inborn genetic diseases ⚠
- p.His698Tyr Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ile146Thr Single submitter ⚠
- p.Ile215Val Single submitter ⚠
- p.Ile271Phe Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ile306= Single submitter X-linked intellectual disability, Cabezas type
- p.Ile306Leu Single submitter Inborn genetic diseases
- p.Ile306Val Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ile318Ser Single submitter CUL4B-related disorder ⚠
- p.Ile329Thr Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ile345Thr Single submitter ⚠
- p.Ile452Met Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ile575Met Single submitter
- p.Ile803Arg Single submitter ⚠
- p.Ile836Val Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Leu311Gln Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Leu372Val Single submitter ⚠
- p.Leu386Ser Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Leu431Pro Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Leu569del Single submitter
- p.Leu593Ser Single submitter ⚠
- p.Leu612Pro Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Leu615Arg Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Leu636Phe Single submitter ⚠
- p.Leu767Ser Single submitter ⚠
- p.Lys216Asn Single submitter oligospermia ⚠
- p.Lys37Asn Single submitter ⚠
- p.Lys505Asn Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Lys715Arg Single submitter ⚠
- p.Lys797Ile Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Lys799Gln Single submitter Inborn genetic diseases ⚠
- p.Lys841Asn Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Lys869Asn Single submitter ⚠
- p.Met309Leu Single submitter X-linked intellectual disability, Cabezas type
- p.Phe109Leu Single submitter ⚠
- p.Phe522Cys Single submitter ⚠
- p.Phe530Leu Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Phe533Cys Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Phe644Leu Single submitter ⚠
- p.Phe693Val Single submitter ⚠
- p.Pro304Leu Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Pro32Thr Single submitter ⚠
- p.Pro680Leu Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Pro681Thr Single submitter Inborn genetic diseases ⚠
- p.Pro72Leu Single submitter ⚠
- p.Pro96= Single submitter
- p.Ser120Tyr Single submitter ⚠
- p.Ser167Arg Single submitter ⚠
- p.Ser22Phe Single submitter ⚠
- p.Ser301Leu Single submitter Inborn genetic diseases ⚠
- p.Ser305Cys Single submitter ⚠
- p.Ser35Cys Single submitter ⚠
- p.Ser421Thr Single submitter ⚠
- p.Ser456Phe Single submitter CUL4B-related disorder ⚠
- p.Ser49_Asn50insSer Single submitter X-linked intellectual disability, Cabezas type
- p.Ser551Thr Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ser5Ala Single submitter ⚠
- p.Ser63Phe Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ser66Phe Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ser66Tyr Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ser745Gly Single submitter Inborn genetic diseases ⚠
- p.Ser75Leu Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ser81Leu Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Ser93Arg Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Thr130Asn Single submitter Inborn genetic diseases ⚠
- p.Thr195Ile Single submitter
- p.Thr30Ala Single submitter ⚠
- p.Thr425Ala Single submitter Inborn genetic diseases ⚠
- p.Thr561Ile Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Thr753Ile Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Thr813Met Single submitter ⚠
- p.Tyr194Cys Single submitter ⚠
- p.Tyr232Phe Single submitter X-linked intellectual disability, Cabezas type ⚠
- p.Tyr668Cys Single submitter ⚠
- p.Tyr856Phe Single submitter ⚠
- p.Tyr893Asn Single submitter ⚠
- p.Tyr893del Single submitter X-linked intellectual disability, Cabezas type
- p.Tyr893fs Single submitter X-linked intellectual disability, Cabezas type
- p.Val165Ala Single submitter ⚠
- p.Val265Ile Single submitter ⚠
- p.Val684Ala Single submitter ⚠
- p.Val95Leu Single submitter ⚠
- p.Ala835Val No assertion criteria X-linked intellectual disability, Cabezas type ⚠
- p.Asp884Asn No assertion criteria X-linked intellectual disability, Cabezas type ⚠
- p.Glu221Asp No assertion criteria CUL4B-related disorder ⚠
- p.Glu374Gly No assertion criteria Seizure ⚠
- p.Lys782Arg No assertion criteria CUL4B-related disorder ⚠
- p.Pro681Leu No assertion criteria CUL4B-related disorder ⚠
- p.Pro78Ala No assertion criteria CUL4B-related disorder ⚠
- p.Ser49del No assertion criteria CUL4B-related disorder
- p.Thr67Ile No assertion criteria CUL4B-related disorder ⚠