DDX3X — 899 ClinVar variants
All ClinVar germline DDX3X variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 200 flagged for review →
189 Pathogenic · 28 Pathogenic/Likely pathogenic · 125 Likely pathogenic · 24 Conflicting · 64 Benign · 18 Benign/Likely benign · 228 Likely benign · 223 Uncertain significance
Full DDX3X gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 200
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 4
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DDX3X p.Ser590Asn
Pathogenic/Likely pathogenic
Multiple submitters
intellectual disability, X-linked 102
-
DDX3X p.His578Gln
Likely pathogenic
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Ile306Val Likely pathogenic Single submitter
- DDX3X p.Ser591Asn Likely pathogenic Single submitter
Predictors agree, ClinVar conflicts 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DDX3X p.Arg362Cys
Conflicting
Single submitter
Inborn genetic diseases
-
DDX3X p.Arg528Cys
Conflicting
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Arg603Gln Conflicting Single submitter
-
DDX3X p.Gly409Asp
Conflicting
Single submitter
Inborn genetic diseases
-
DDX3X p.His485Pro
Conflicting
Single submitter
intellectual disability, X-linked 102
-
DDX3X p.Leu235Pro
Conflicting
Single submitter
Inborn genetic diseases
-
DDX3X p.Leu559His
Conflicting
Single submitter
DDX3X-related X-linked intellectual disability
- DDX3X p.Lys118Arg Conflicting Single submitter
-
DDX3X p.Trp421Gly
Conflicting
Single submitter
intellectual disability, X-linked 102
Predicted LoF vs a conflicting call 1
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.
-
DDX3X c.864+2T>G
Conflicting
Single submitter
intellectual disability, X-linked 102
Predictors lean, ClinVar uncertain 95
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DDX3X p.Arg262Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DDX3X p.Arg394His Uncertain significance Multiple submitters
-
DDX3X p.Asp65Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DDX3X p.Gly629Ser Uncertain significance Multiple submitters
- DDX3X p.Ile179Thr Uncertain significance Multiple submitters
-
DDX3X p.Ile190Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DDX3X p.Ile268Val Uncertain significance Multiple submitters
- DDX3X p.Leu313Phe Uncertain significance Multiple submitters
- DDX3X p.Leu346Ser Uncertain significance Multiple submitters
- DDX3X p.Lys581Arg Uncertain significance Multiple submitters
-
DDX3X p.Val513Ile
Uncertain significance
Multiple submitters
intellectual disability
- DDX3X p.Ala17Gly Uncertain significance Single submitter
-
DDX3X p.Ala224Thr
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Ala250Thr Uncertain significance Single submitter
-
DDX3X p.Ala279Pro
Uncertain significance
Single submitter
intellectual disability, X-linked 102
-
DDX3X p.Ala286Asp
Uncertain significance
Single submitter
intellectual disability, X-linked 102
-
DDX3X p.Ala286Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX3X p.Ala467Thr Uncertain significance Single submitter
- DDX3X p.Ala497Pro Uncertain significance Single submitter
-
DDX3X p.Ala501Thr
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Ala68Val Uncertain significance Single submitter
- DDX3X p.Arg296Ser Uncertain significance Single submitter
- DDX3X p.Arg407Ser Uncertain significance Single submitter
-
DDX3X p.Arg428Trp
Uncertain significance
Single submitter
neurodevelopmental disorder
- DDX3X p.Arg475His Uncertain significance Single submitter
- DDX3X p.Arg622Ser Uncertain significance Single submitter
- DDX3X p.Asn155Ser Uncertain significance Single submitter
- DDX3X p.Asn173Ser Uncertain significance Single submitter
- DDX3X p.Asn45Tyr Uncertain significance Single submitter
- DDX3X p.Asn644Ser Uncertain significance Single submitter
- DDX3X p.Asn662Ser Uncertain significance Single submitter
- DDX3X p.Asn8Ser Uncertain significance Single submitter
- DDX3X p.Asp134Glu Uncertain significance Single submitter
-
DDX3X p.Asp134Val
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Asp13Gly Uncertain significance Single submitter
-
DDX3X p.Asp20Tyr
Uncertain significance
Single submitter
intellectual disability, X-linked 102
-
DDX3X p.Asp219Glu
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Asp368Gly Uncertain significance Single submitter
-
DDX3X p.Asp474Val
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Asp506Glu Uncertain significance Single submitter
-
DDX3X p.Asp555Tyr
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Cys128Tyr Uncertain significance Single submitter
- DDX3X p.Gln148Arg Uncertain significance Single submitter
- DDX3X p.Gln27Pro Uncertain significance Single submitter
- DDX3X p.Glu256Lys Uncertain significance Single submitter
-
DDX3X p.Glu547Val
Uncertain significance
Single submitter
neurodevelopmental disorder
- DDX3X p.Gly51Asp Uncertain significance Single submitter
- DDX3X p.Gly539Arg Uncertain significance Single submitter
- DDX3X p.Gly607Ser Uncertain significance Single submitter
- DDX3X p.Gly624Ser Uncertain significance Single submitter
- DDX3X p.His485Tyr Uncertain significance Single submitter
- DDX3X p.His512Arg Uncertain significance Single submitter
- DDX3X p.His512Pro Uncertain significance Single submitter
- DDX3X p.His628Pro Uncertain significance Single submitter
- DDX3X p.Ile107Thr Uncertain significance Single submitter
- DDX3X p.Ile514Ser Uncertain significance Single submitter
-
DDX3X p.Ile522Thr
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Ile550Thr Uncertain significance Single submitter
- DDX3X p.Ile550Val Uncertain significance Single submitter
- DDX3X p.Leu320Ser Uncertain significance Single submitter
- DDX3X p.Leu344Phe Uncertain significance Single submitter
- DDX3X p.Leu432Phe Uncertain significance Single submitter
-
DDX3X p.Leu432Pro
Uncertain significance
Single submitter
intellectual disability, X-linked 102
-
DDX3X p.Leu445Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX3X p.Lys451Glu Uncertain significance Single submitter
- DDX3X p.Met254Val Uncertain significance Single submitter
-
DDX3X p.Met352Ile
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Phe340Tyr Uncertain significance Single submitter
-
DDX3X p.Phe447Val
Uncertain significance
Single submitter
intellectual disability, X-linked 102
-
DDX3X p.Phe487Ser
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Pro139Arg Uncertain significance Single submitter
- DDX3X p.Pro167Thr Uncertain significance Single submitter
-
DDX3X p.Pro176Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX3X p.Pro267Arg Uncertain significance Single submitter
- DDX3X p.Pro267Gln Uncertain significance Single submitter
- DDX3X p.Pro371Leu Uncertain significance Single submitter
-
DDX3X p.Pro41His
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Ser143Asn Uncertain significance Single submitter
- DDX3X p.Ser508Pro Uncertain significance Single submitter
-
DDX3X p.Ser543Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX3X p.Ser76Asn Uncertain significance Single submitter
-
DDX3X p.Thr231Ser
Uncertain significance
Single submitter
intellectual disability, X-linked 102
-
DDX3X p.Thr275Met
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Thr323Ala Uncertain significance Single submitter
- DDX3X p.Thr323Ser Uncertain significance Single submitter
- DDX3X p.Thr469Ile Uncertain significance Single submitter
-
DDX3X p.Thr542Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX3X p.Tyr602Cys Uncertain significance Single submitter
- DDX3X p.Val419Ile Uncertain significance Single submitter
-
DDX3X p.Val510Met
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Val657Ile Uncertain significance Single submitter
-
DDX3X p.Arg351Trp
Uncertain significance
No assertion criteria
DDX3X-related disorder
-
DDX3X p.Asp219His
Uncertain significance
No assertion criteria
DDX3X-related disorder
- DDX3X p.Gln360Glu Uncertain significance No assertion criteria
-
DDX3X p.Ser583Gly
Uncertain significance
No assertion criteria
DDX3X-related disorder
Predictors split 91
The independent predictors disagree with each other — read with care.
-
DDX3X p.Arg394Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DDX3X p.Arg79Lys
Uncertain significance
Multiple submitters
intellectual disability, X-linked 102
- DDX3X p.Glu423Gly Uncertain significance Multiple submitters
-
DDX3X p.Gly258Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DDX3X p.Gly30Val Uncertain significance Multiple submitters
-
DDX3X p.Ile158Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DDX3X p.Leu10Phe Uncertain significance Multiple submitters
-
DDX3X p.Lys491Gln
Uncertain significance
Multiple submitters
intellectual disability, X-linked 102
-
DDX3X p.Ser57Asn
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
- DDX3X p.Ser619Asn Uncertain significance Multiple submitters
- DDX3X p.Ser82Cys Uncertain significance Multiple submitters
-
DDX3X p.Tyr652Cys
Uncertain significance
Multiple submitters
DDX3X-related disorder
- DDX3X p.Ala170Val Uncertain significance Single submitter
- DDX3X p.Ala253Pro Uncertain significance Single submitter
- DDX3X p.Ala68Glu Uncertain significance Single submitter
- DDX3X p.Arg101Gln Uncertain significance Single submitter
- DDX3X p.Arg110Cys Uncertain significance Single submitter
- DDX3X p.Arg110His Uncertain significance Single submitter
- DDX3X p.Arg121Cys Uncertain significance Single submitter
-
DDX3X p.Arg121Leu
Uncertain significance
Single submitter
intellectual disability, X-linked 102
-
DDX3X p.Arg199His
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Arg199Ser Uncertain significance Single submitter
-
DDX3X p.Arg202Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX3X p.Arg263His
Conflicting
Single submitter
intellectual disability, X-linked 102
-
DDX3X p.Arg296His
Likely pathogenic
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Arg315Cys Uncertain significance Single submitter
- DDX3X p.Arg333Lys Uncertain significance Single submitter
- DDX3X p.Arg478Lys Uncertain significance Single submitter
- DDX3X p.Arg587Cys Uncertain significance Single submitter
- DDX3X p.Arg75His Uncertain significance Single submitter
- DDX3X p.Arg88Cys Uncertain significance Single submitter
- DDX3X p.Arg88His Uncertain significance Single submitter
- DDX3X p.Arg95Lys Uncertain significance Single submitter
- DDX3X p.Arg99Cys Uncertain significance Single submitter
- DDX3X p.Asn155Lys Uncertain significance Single submitter
- DDX3X p.Asn194Ser Uncertain significance Single submitter
- DDX3X p.Asn257His Uncertain significance Single submitter
- DDX3X p.Asp103Glu Uncertain significance Single submitter
- DDX3X p.Asp398His Uncertain significance Single submitter
-
DDX3X p.Gln14His
Benign
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Gln241Lys Likely benign Single submitter
- DDX3X p.Glu120Val Uncertain significance Single submitter
- DDX3X p.Glu144Gly Uncertain significance Single submitter
- DDX3X p.Glu249Lys Uncertain significance Single submitter
- DDX3X p.Gly11Arg Uncertain significance Single submitter
- DDX3X p.Gly18Asp Uncertain significance Single submitter
-
DDX3X p.Gly36Val
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Gly582Val Uncertain significance Single submitter
- DDX3X p.Gly625Arg Uncertain significance Single submitter
- DDX3X p.Gly636Arg Uncertain significance Single submitter
- DDX3X p.Gly638Cys Uncertain significance Single submitter
-
DDX3X p.Gly641Asp
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Gly650Glu Uncertain significance Single submitter
- DDX3X p.Gly94Arg Uncertain significance Single submitter
- DDX3X p.His178Arg Uncertain significance Single submitter
- DDX3X p.His42Tyr Uncertain significance Single submitter
- DDX3X p.Ile195Met Uncertain significance Single submitter
-
DDX3X p.Ile268Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX3X p.Leu140Pro Uncertain significance Single submitter
- DDX3X p.Leu239Met Uncertain significance Single submitter
-
DDX3X p.Lys215Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX3X p.Met574Val Likely benign Single submitter
-
DDX3X p.Phe116Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX3X p.Phe116Leu Uncertain significance Single submitter
- DDX3X p.Phe430Tyr Uncertain significance Single submitter
-
DDX3X p.Phe84Cys
Conflicting
Single submitter
DDX3X-related disorder
- DDX3X p.Ser109Asn Uncertain significance Single submitter
- DDX3X p.Ser152Phe Uncertain significance Single submitter
- DDX3X p.Ser240Asn Uncertain significance Single submitter
- DDX3X p.Ser290Leu Uncertain significance Single submitter
- DDX3X p.Ser2Asn Uncertain significance Single submitter
- DDX3X p.Ser57Arg Uncertain significance Single submitter
-
DDX3X p.Ser57Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DDX3X p.Ser57Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DDX3X p.Ser588Phe Uncertain significance Single submitter
- DDX3X p.Ser58Ala Uncertain significance Single submitter
- DDX3X p.Ser594Asn Uncertain significance Single submitter
- DDX3X p.Ser609Asn Uncertain significance Single submitter
-
DDX3X p.Ser620Arg
Uncertain significance
Single submitter
intellectual disability, X-linked 102
- DDX3X p.Ser623Ile Uncertain significance Single submitter
- DDX3X p.Ser62Phe Uncertain significance Single submitter
- DDX3X p.Ser78Pro Uncertain significance Single submitter
- DDX3X p.Ser90Asn Uncertain significance Single submitter
- DDX3X p.Thr198Pro Likely pathogenic Single submitter
-
DDX3X p.Thr369Ser
Conflicting
Single submitter
X-linked syndromic intellectual disability
- DDX3X p.Thr553Ile Uncertain significance Single submitter
- DDX3X p.Trp60Leu Uncertain significance Single submitter
- DDX3X p.Tyr260Asn Uncertain significance Single submitter
- DDX3X p.Val185Ile Uncertain significance Single submitter
- DDX3X p.Val567Leu Uncertain significance Single submitter
-
DDX3X p.Gly193Val
Uncertain significance
No assertion criteria
Abnormal cerebral morphology
All DDX3X variants
Pathogenic 189
- c.1498-2A>G Multiple submitters Inborn genetic diseases
- c.151+1G>A Multiple submitters Inborn genetic diseases
- c.1769+1G>A Multiple submitters Inborn genetic diseases
- c.765+1G>A Multiple submitters intellectual disability
- c.865-1G>C Multiple submitters Inborn genetic diseases
- c.865-2A>G Multiple submitters intellectual disability, X-linked 102
- p.Arg311Ter Multiple submitters intellectual disability
- p.Arg326His Multiple submitters Inborn genetic diseases
- p.Arg46Ter Multiple submitters intellectual disability, X-linked 102
- p.Arg603Ter Multiple submitters intellectual disability
- p.Asn124fs Multiple submitters intellectual disability, X-linked 102
- p.Asn546Ter Multiple submitters intellectual disability, X-linked 102
- p.Asp135fs Multiple submitters Inborn genetic diseases
- p.Gln14Ter Multiple submitters intellectual disability
- p.Gln281Ter Multiple submitters intellectual disability, X-linked 102
- p.Gln308Ter Multiple submitters Inborn genetic diseases
- p.Gln565Ter Multiple submitters intellectual disability, X-linked 102
- p.Glu366Ter Multiple submitters
- p.His512fs Multiple submitters X-linked intellectual disability-hypotonia-movement disorder syndrome
- p.Lys418fs Multiple submitters intellectual disability, X-linked 102
- p.Met1Ile Multiple submitters DDX3X-related disorder
- p.Phe85fs Multiple submitters intellectual disability, X-linked 102
- p.Pro40Arg Multiple submitters Neurodevelopmental delay
- p.Pro568Leu Multiple submitters Inborn genetic diseases
- p.Ser131Ter Multiple submitters intellectual disability, X-linked 102
- p.Ser152fs Multiple submitters intellectual disability, X-linked 102
- p.Ser24Ter Multiple submitters intellectual disability, X-linked 102
- p.Ser78Ter Multiple submitters intellectual disability, X-linked 102
- p.Tyr343Ter Multiple submitters
- p.Tyr576Ter Multiple submitters intellectual disability, X-linked 102
- p.Tyr602Ter Multiple submitters intellectual disability
- p.Val513fs Multiple submitters intellectual disability
- c.1025+1G>A Single submitter intellectual disability, X-linked 102
- c.103+2dup Single submitter
- c.103+2T>C Single submitter intellectual disability
- c.1171-1G>C Single submitter intellectual disability, X-linked 102
- c.1171-2A>G Single submitter intellectual disability, X-linked 102
- c.1316-2A>G Single submitter intellectual disability, X-linked 102
- c.152-1G>C Single submitter
- c.284+1G>A Single submitter intellectual disability, X-linked 102
- c.284+1G>C Single submitter Inborn genetic diseases
- c.45+1G>A Single submitter
- c.45+1G>T Single submitter
- c.46-2A>C Single submitter
- c.543+5G>A Single submitter
- c.544-1G>T Single submitter
- c.864+1delinsTTC Single submitter
- c.865-1G>A Single submitter intellectual disability, X-linked 102
- p.Ala232fs Single submitter intellectual disability, X-linked 102
- p.Ala383Gly Single submitter intellectual disability, X-linked 102
- p.Ala404fs Single submitter
- p.Ala467fs Single submitter
- p.Ala501fs Single submitter intellectual disability, X-linked 102
- p.Ala502fs Single submitter Inborn genetic diseases
- p.Ala502Thr Single submitter
- p.Ala541Val Single submitter
- p.Arg101fs Single submitter intellectual disability, X-linked 102
- p.Arg113fs Single submitter
- p.Arg292Leu Single submitter
- p.Arg311fs Single submitter intellectual disability, X-linked 102
- p.Arg376fs Single submitter
- p.Arg376His Single submitter intellectual disability, X-linked 102
- p.Arg478fs Single submitter
- p.Arg480_Glu481delinsLys Single submitter
- p.Arg480fs Single submitter intellectual disability, X-linked 102
- p.Arg480Thr Single submitter isolated cerebellar hypoplasia/agenesis
- p.Arg488fs Single submitter
- p.Arg488Pro Single submitter intellectual disability, X-linked 102
- p.Arg534Gly Single submitter intellectual disability, X-linked 102
- p.Arg534His Single submitter
- p.Arg93fs Single submitter Inborn genetic diseases
- p.Arg95fs Single submitter
- p.Asn194fs Single submitter
- p.Asn26fs Single submitter
- p.Asn546fs Single submitter
- p.Asp219_Leu220insTer Single submitter intellectual disability
- p.Asp329Gly Single submitter
- p.Asp350Ter Single submitter Inborn genetic diseases
- p.Asp395Asn Single submitter
- p.Asp426fs Single submitter Inborn genetic diseases
- p.Asp441fs Single submitter
- p.Asp56fs Single submitter
- p.Asp67fs Single submitter
- p.Asp77fs Single submitter intellectual disability, X-linked 102
- p.Gln148Ter Single submitter
- p.Gln207Ter Single submitter intellectual disability, X-linked 102
- p.Gln241Ter Single submitter Inborn genetic diseases
- p.Gln27fs Single submitter
- p.Gln309Ter Single submitter intellectual disability, X-linked 102
- p.Gln367fs Single submitter intellectual disability, X-linked 102
- p.Gln417_Lys418insTer Single submitter
- p.Gln477Ter Single submitter Inborn genetic diseases
- p.Glu133fs Single submitter intellectual disability, X-linked 102
- p.Glu189Ter Single submitter
- p.Glu216fs Single submitter
- p.Glu249Ter Single submitter intellectual disability, X-linked 102
- p.Glu277Ter Single submitter
- p.Glu449Ter Single submitter intellectual disability, X-linked 102
- p.Glu464Ter Single submitter
- p.Glu482fs Single submitter intellectual disability, X-linked 102
- p.Glu566fs Single submitter Inborn genetic diseases
- p.Gly325fs Single submitter intellectual disability
- p.Gly406Arg Single submitter
- p.Gly586Ter Single submitter
- p.Gly89Ter Single submitter
- p.His485fs Single submitter
- p.His578fs Single submitter
- p.Ile211fs Single submitter intellectual disability, X-linked 102
- p.Ile214fs Single submitter
- p.Ile364Arg Single submitter
- p.Ile415Thr Single submitter intellectual disability, X-linked 102
- p.Ile514fs Single submitter
- p.Leu220Ser Single submitter
- p.Leu397fs Single submitter Inborn genetic diseases
- p.Leu434fs Single submitter Inborn genetic diseases
- p.Leu435del Single submitter
- p.Leu445Ter Single submitter
- p.Leu556Ser Single submitter
- p.Lys208fs Single submitter
- p.Lys215Ter Single submitter intellectual disability, X-linked 102
- p.Lys217Ter Single submitter intellectual disability, X-linked 102
- p.Lys288Glu Single submitter intellectual disability, X-linked 102
- p.Lys288Ter Single submitter
- p.Lys35fs Single submitter intellectual disability, X-linked 102
- p.Lys427fs Single submitter
- p.Lys440fs Single submitter
- p.Lys452Ter Single submitter intellectual disability, X-linked 102
- p.Lys50Ter Single submitter
- p.Lys81delinsThrTer Single submitter
- p.Met1Val Single submitter
- p.Met370Ile Single submitter
- p.Met379fs Single submitter intellectual disability, X-linked 102
- p.Phe396fs Single submitter Inborn genetic diseases
- p.Pro203Ser Single submitter
- p.Pro205Leu Single submitter neurodevelopmental disorder
- p.Pro212His Single submitter
- p.Pro274Ala Single submitter
- p.Pro274fs Single submitter
- p.Ser125fs Single submitter
- p.Ser28fs Single submitter
- p.Ser382Arg Single submitter
- p.Ser410fs Single submitter Inborn genetic diseases
- p.Ser425Ter Single submitter intellectual disability, X-linked 102
- p.Ser429fs Single submitter
- p.Ser442Ter Single submitter
- p.Ser543Ter Single submitter
- p.Ser583fs Single submitter microcephaly
- p.Ser584Ter Single submitter
- p.Ser90fs Single submitter intellectual disability, X-linked 102
- p.Thr198fs Single submitter intellectual disability, X-linked 102
- p.Thr204Pro Single submitter
- p.Thr226fs Single submitter intellectual disability, X-linked 102
- p.Thr275fs Single submitter intellectual disability, X-linked 102
- p.Thr32fs Single submitter
- p.Thr498Ile Single submitter
- p.Thr553fs Single submitter
- p.Trp127Ter Single submitter intellectual disability, X-linked 102
- p.Trp60Ter Single submitter
- p.Tyr163Ter Single submitter neurodevelopmental disorder
- p.Tyr200Ter Single submitter
- p.Tyr243fs Single submitter
- p.Tyr260Ter Single submitter intellectual disability, X-linked 102
- p.Tyr400Ter Single submitter intellectual disability
- p.Tyr466fs Single submitter
- p.Tyr466Ter Single submitter intellectual disability, X-linked 102
- p.Tyr525fs Single submitter
- p.Tyr69Ter Single submitter intellectual disability, X-linked 102
- p.Val206Met Single submitter Inborn genetic diseases
- p.Val345_Leu346insTer Single submitter
- p.Val419fs Single submitter
- p.Val422fs Single submitter intellectual disability, X-linked 102
- p.Val535fs Single submitter Inborn genetic diseases
- p.Ala483Asp No assertion criteria intellectual disability, X-linked 102
- p.Arg276fs No assertion criteria intellectual disability, X-linked 102
- p.Arg534fs No assertion criteria Neurodevelopmental abnormality
- p.Asn257fs No assertion criteria intellectual disability, X-linked 102
- p.Asp479_Arg480delinsValSer No assertion criteria intellectual disability, X-linked 102
- p.Asp65fs No assertion criteria intellectual disability, X-linked 102
- p.Gln225Arg No assertion criteria intellectual disability, X-linked 102
- p.Gln477Glu No assertion criteria intellectual disability, X-linked 102
- p.Gly258fs No assertion criteria DDX3X-related disorder
- p.Gly504Glu No assertion criteria intellectual disability, X-linked 102
- p.Ile214del No assertion criteria intellectual disability, X-linked 102
- p.Ile507Thr No assertion criteria intellectual disability, X-linked 102
- p.Leu251fs No assertion criteria
- p.Ser114fs No assertion criteria intellectual disability, X-linked 102
- p.Ser244Ter No assertion criteria
- p.Tyr291Ter No assertion criteria intellectual disability, X-linked 102
- p.Val446Met No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Pathogenic/Likely pathogenic 28
- c.1071_1170+24del Multiple submitters Inborn genetic diseases
- p.Ala349Thr Multiple submitters intellectual disability, X-linked 102
- p.Ala497Val Multiple submitters intellectual disability, X-linked 102
- p.Arg292Ter Multiple submitters intellectual disability, X-linked 102
- p.Arg326Cys Multiple submitters Inborn genetic diseases
- p.Arg376Cys Multiple submitters Inborn genetic diseases
- p.Arg475Cys Multiple submitters intellectual disability, X-linked 102
- p.Arg475Gly Multiple submitters Inborn genetic diseases
- p.Arg480Gly Multiple submitters intellectual disability, X-linked 102
- p.Arg488Cys Multiple submitters intellectual disability, X-linked 102
- p.Arg488His Multiple submitters intellectual disability, X-linked 102
- p.Arg534Cys Multiple submitters intellectual disability, X-linked 102
- p.Cys298Ter Multiple submitters intellectual disability, X-linked 102
- p.Gln27Ter Multiple submitters
- p.Gly193Ter Multiple submitters intellectual disability, X-linked 102
- p.Gly248= Multiple submitters intellectual disability, X-linked 102
- p.His472Pro Multiple submitters Inborn genetic diseases
- p.Ile214Thr Multiple submitters intellectual disability, X-linked 102
- p.Ile514Thr Multiple submitters intellectual disability, X-linked 102
- p.Leu560del Multiple submitters intellectual disability
- p.Phe402del Multiple submitters intellectual disability, X-linked 102
- p.Pro324Arg Multiple submitters intellectual disability, X-linked 102
- p.Pro41del Multiple submitters intellectual disability, X-linked 102
- p.Pro41Ser Multiple submitters DDX3X-related disorder
- p.Ser58Ter Multiple submitters intellectual disability, X-linked 102
- p.Ser590Asn Multiple submitters intellectual disability, X-linked 102 ⚠
- p.Thr532Met Multiple submitters intellectual disability, X-linked 102
- p.Tyr38Cys Multiple submitters intellectual disability, X-linked 102
Likely pathogenic 125
- c.1497+1G>A Multiple submitters intellectual disability, X-linked 102
- c.543+3_543+6del Multiple submitters intellectual disability
- p.Arg351Gln Multiple submitters intellectual disability, X-linked 102
- p.His472Arg Multiple submitters Inborn genetic diseases
- p.Pro40Ser Multiple submitters intellectual disability, X-linked 102
- p.Val513Leu Multiple submitters intellectual disability, X-linked 102
- c.1026-2A>G Single submitter intellectual disability, X-linked 102
- c.103+6T>G Single submitter intellectual disability, X-linked 102
- c.1171-2A>C Single submitter intellectual disability, X-linked 102
- c.1315+1G>A Single submitter intellectual disability, X-linked 102
- c.1315+1G>C Single submitter
- c.152-1G>A Single submitter intellectual disability, X-linked 102
- c.152-2A>T Single submitter intellectual disability, X-linked 102
- c.1615+1G>T Single submitter
- c.1616-13G>A Single submitter
- c.443+2T>G Single submitter intellectual disability, X-linked 102
- c.444-2A>T Single submitter
- c.45+1G>C Single submitter intellectual disability, X-linked 102
- c.45+2T>A Single submitter
- c.536_543+5inv Single submitter Inborn genetic diseases
- c.544-2A>G Single submitter
- c.679+3_679+4inv Single submitter
- c.765+2T>G Single submitter intellectual disability, X-linked 102
- p.Ala322Val Single submitter intellectual disability, X-linked 102
- p.Ala393Pro Single submitter intellectual disability, X-linked 102
- p.Ala404Asp Single submitter
- p.Arg202Leu Single submitter
- p.Arg292Gln Single submitter
- p.Arg296His Single submitter intellectual disability, X-linked 102 ⚠
- p.Arg296Pro Single submitter intellectual disability, X-linked 102
- p.Arg351Pro Single submitter
- p.Arg394_Asp395dup Single submitter intellectual disability, X-linked 102
- p.Arg407Gly Single submitter
- p.Arg528His Single submitter intellectual disability, X-linked 102
- p.Arg622fs Single submitter Inborn genetic diseases
- p.Asn174fs Single submitter intellectual disability, X-linked 102
- p.Asn414fs Single submitter intellectual disability, X-linked 102
- p.Asn509Ile Single submitter intellectual disability, X-linked 102
- p.Asn515Asp Single submitter intellectual disability
- p.Asp219fs Single submitter DDX3X-related disorder
- p.Asp25fs Single submitter
- p.Asp347fs Single submitter intellectual disability, X-linked 102
- p.Asp474Gly Single submitter
- p.Cys175Ter Single submitter intellectual disability, X-linked 102
- p.Gln417Arg Single submitter intellectual disability, X-linked 102
- p.Gln417Glu Single submitter intellectual disability, X-linked 102
- p.Gln417Lys Single submitter
- p.Gln565His Single submitter intellectual disability, X-linked 102
- p.Glu277fs Single submitter intellectual disability, X-linked 102
- p.Gly302Ser Single submitter intellectual disability, X-linked 102
- p.Gly406fs Single submitter intellectual disability, X-linked 102
- p.Gly409Cys Single submitter Inborn genetic diseases
- p.Gly51fs Single submitter Marfanoid habitus and intellectual disability
- p.Gly80fs Single submitter
- p.His3fs Single submitter DDX3X-Related Neurodevelopmental Disorder
- p.His578Gln Single submitter intellectual disability, X-linked 102 ⚠
- p.His579fs Single submitter intellectual disability, X-linked 102
- p.Ile191del Single submitter intellectual disability, X-linked 102
- p.Ile191Thr Single submitter
- p.Ile195Thr Single submitter intellectual disability, X-linked 102
- p.Ile306Val Single submitter ⚠
- p.Ile364Thr Single submitter
- p.Ile415fs Single submitter intellectual disability, X-linked 102
- p.Ile415Phe Single submitter intellectual disability, X-linked 102
- p.Ile494Ser Single submitter
- p.Ile522fs Single submitter intellectual disability, X-linked 102
- p.Leu278fs Single submitter intellectual disability, X-linked 102
- p.Leu327Val Single submitter
- p.Leu353Val Single submitter
- p.Leu392Pro Single submitter intellectual disability, X-linked 102
- p.Leu431Arg Single submitter intellectual disability, X-linked 102
- p.Leu435Pro Single submitter intellectual disability, X-linked 102
- p.Leu457Pro Single submitter Neurodevelopmental delay
- p.Leu484Pro Single submitter intellectual disability, X-linked 102
- p.Leu495Ser Single submitter
- p.Leu505Val Single submitter
- p.Leu571Ser Single submitter
- p.Lys130fs Single submitter
- p.Lys255= Single submitter
- p.Lys418Ter Single submitter intellectual disability, X-linked 102
- p.Met1Leu Single submitter intellectual disability, X-linked 102
- p.Phe182Val Single submitter intellectual disability, X-linked 102
- p.Phe447Leu Single submitter DDX3X-related disorder
- p.Phe487Leu Single submitter intellectual disability, X-linked 102
- p.Phe516Ser Single submitter intellectual disability, X-linked 102
- p.Phe613fs Single submitter Inborn genetic diseases
- p.Pro324Leu Single submitter intellectual disability, X-linked 102
- p.Pro386fs Single submitter intellectual disability, X-linked 102
- p.Pro40Leu Single submitter intellectual disability, X-linked 102
- p.Ser290Ter Single submitter intellectual disability, X-linked 102
- p.Ser293Phe Single submitter Inborn genetic diseases
- p.Ser489Ter Single submitter intellectual disability, X-linked 102
- p.Ser543Pro Single submitter intellectual disability, X-linked 102
- p.Ser591Asn Single submitter ⚠
- p.Ser620fs Single submitter Inborn genetic diseases
- p.Thr198Pro Single submitter ⚠
- p.Thr226Ala Single submitter intellectual disability, X-linked 102
- p.Thr275del Single submitter
- p.Thr323Ile Single submitter
- p.Thr498Ala Single submitter DDX3X-related X-linked intellectual disability
- p.Thr498Arg Single submitter intellectual disability, X-linked 102
- p.Trp421Ter Single submitter intellectual disability
- p.Tyr200Cys Single submitter intellectual disability, X-linked 102
- p.Tyr200Ser Single submitter intellectual disability, X-linked 102
- p.Tyr525Ter Single submitter intellectual disability, X-linked 102
- p.Tyr576fs Single submitter intellectual disability, X-linked 102
- p.Tyr69fs Single submitter
- p.Val345Leu Single submitter intellectual disability, X-linked 102
- p.Val448Glu Single submitter intellectual disability
- p.Val496Gly Single submitter intellectual disability, X-linked 102
- p.Val496Met Single submitter intellectual disability, X-linked 102
- p.Val513Ala Single submitter Inborn genetic diseases
- p.Val513Gly Single submitter
- c.544-8_544-6del No assertion criteria intellectual disability, X-linked 102
- p.Ala483Thr No assertion criteria intellectual disability, X-linked 102
- p.Arg475Leu No assertion criteria Rare genetic intellectual disability
- p.Cys341Arg No assertion criteria DDX3X-related disorder
- p.Ile494Met No assertion criteria
- p.Leu236fs No assertion criteria
- p.Met370fs No assertion criteria
- p.Pro274Ser No assertion criteria intellectual disability, X-linked 102
- p.Pro386His No assertion criteria DDX3X-related disorder
- p.Pro386Ser No assertion criteria
- p.Thr369fs No assertion criteria intellectual disability, X-linked 102
- p.Tyr525Cys No assertion criteria intellectual disability, X-linked 102
Conflicting classifications of pathogenicity 24
- c.1170+4C>T Single submitter Inborn genetic diseases
- c.1315+5C>T Single submitter
- c.1616-4_1616-3del Single submitter
- c.1616-7_1616-6del Single submitter
- c.284+3A>T Single submitter Inborn genetic diseases
- c.864+2T>G Single submitter intellectual disability, X-linked 102 ⚠
- p.Ala618_Arg622del Single submitter intellectual disability, X-linked 102
- p.Arg263His Single submitter intellectual disability, X-linked 102 ⚠
- p.Arg362Cys Single submitter Inborn genetic diseases ⚠
- p.Arg528Cys Single submitter intellectual disability, X-linked 102 ⚠
- p.Arg603Gln Single submitter ⚠
- p.Gly409Asp Single submitter Inborn genetic diseases ⚠
- p.His485Pro Single submitter intellectual disability, X-linked 102 ⚠
- p.Ile282= Single submitter intellectual disability, X-linked 102
- p.Ile401= Single submitter
- p.Leu235Pro Single submitter Inborn genetic diseases ⚠
- p.Leu559His Single submitter DDX3X-related X-linked intellectual disability ⚠
- p.Lys118Arg Single submitter ⚠
- p.Phe84Cys Single submitter DDX3X-related disorder ⚠
- p.Pro142= Single submitter Inborn genetic diseases
- p.Ser606del Single submitter
- p.Thr369Ser Single submitter X-linked syndromic intellectual disability ⚠
- p.Trp421Gly Single submitter intellectual disability, X-linked 102 ⚠
- p.Val321del Single submitter intellectual disability, X-linked 102
Benign 64
- c.1025+24T>G Multiple submitters
- c.1315+151C>T Multiple submitters
- c.151+120T>C Multiple submitters
- c.152-5C>G Multiple submitters Inborn genetic diseases
- c.1770-3T>C Multiple submitters Inborn genetic diseases
- c.443+18A>T Multiple submitters
- c.444-18T>C Multiple submitters
- c.45+195C>T Multiple submitters
- c.45+196C>T Multiple submitters
- c.543+70G>A Multiple submitters
- c.679+125G>T Multiple submitters
- c.680-23TTTG[2] Multiple submitters
- c.765+44G>A Multiple submitters
- p.Asp646= Multiple submitters Inborn genetic diseases
- c.1025+20del Single submitter
- c.1025+226G>A Single submitter
- c.1025+266T>C Single submitter
- c.1026-13del Single submitter
- c.1026-15_1026-14del Single submitter
- c.103+192_103+193del Single submitter
- c.103+193del Single submitter
- c.104-40dup Single submitter
- c.1171-15T>A Single submitter
- c.1171-17_1171-16del Single submitter
- c.1171-18_1171-16del Single submitter
- c.1171-18A>T Single submitter
- c.1171-8del Single submitter
- c.1315+23_1315+27del Single submitter
- c.1316-6C>T Single submitter
- c.152-311C>T Single submitter
- c.1770-16A>G Single submitter
- c.1770-8del Single submitter
- c.1770-8dup Single submitter
- c.284+289C>G Single submitter
- c.285-7T>C Single submitter
- c.443+16G>T Single submitter
- c.443+18A>G Single submitter
- c.443+19T>C Single submitter
- c.444-9del Single submitter
- c.444-9dup Single submitter
- c.45+19A>G Single submitter
- c.46-12A>T Single submitter
- c.46-244C>T Single submitter
- c.46-7C>T Single submitter
- c.543+184A>G Single submitter
- c.544-20C>A Single submitter
- c.679+12T>G Single submitter
- c.679+14A>G Single submitter
- c.679+15_679+19del Single submitter
- c.679+18_679+23del Single submitter
- c.766-13_766-9del Single submitter
- c.865-9dup Single submitter
- p.Cys298= Single submitter
- p.Gln14His Single submitter intellectual disability, X-linked 102 ⚠
- p.Gly115= Single submitter
- p.Gly539= Single submitter
- p.Leu140= Single submitter
- p.Leu346= Single submitter
- p.Phe16= Single submitter
- p.Pro568= Single submitter
- p.Thr532= Single submitter
- p.Tyr104= Single submitter
- p.Tyr283= Single submitter
- c.104-23TA[6] No assertion criteria DDX3X-related disorder
Benign/Likely benign 18
- c.104-10A>T Multiple submitters intellectual disability, X-linked 102
- c.104-3dup Multiple submitters
- c.1171-8dup Multiple submitters intellectual disability, X-linked 102
- c.1497+5G>A Multiple submitters Inborn genetic diseases
- c.1616-3T>C Multiple submitters Inborn genetic diseases
- c.1909+11T>C Multiple submitters
- c.285-14_285-11del Multiple submitters
- p.Arg478= Multiple submitters intellectual disability, X-linked 102
- p.Arg531= Multiple submitters
- p.Asn509= Multiple submitters
- p.Gly409= Multiple submitters
- p.Leu397= Multiple submitters Inborn genetic diseases
- p.Ser57Asn Multiple submitters Inborn genetic diseases ⚠
- p.Ser61Gly Multiple submitters Inborn genetic diseases
- p.Thr323= Multiple submitters Inborn genetic diseases
- p.Tyr163= Multiple submitters Inborn genetic diseases
- p.Tyr53= Multiple submitters
- p.Val365= Multiple submitters
Likely benign 228
- c.1025+26_1025+33del Multiple submitters
- c.1026-89T>A Multiple submitters
- c.1316-7A>T Multiple submitters
- c.1497+29A>G Multiple submitters
- c.152-18del Multiple submitters
- c.1770-17T>C Multiple submitters
- c.284+72T>G Multiple submitters
- c.284+8A>C Multiple submitters
- c.443+15T>C Multiple submitters
- c.45+9C>G Multiple submitters
- p.Ala304= Multiple submitters Inborn genetic diseases
- p.Pro212= Multiple submitters Inborn genetic diseases
- c.1025+10_1025+14del Single submitter
- c.1025+10_1025+23del Single submitter
- c.1025+108G>A Single submitter
- c.1025+10A>C Single submitter
- c.1025+14T>G Single submitter
- c.1025+152C>T Single submitter
- c.1025+16T>G Single submitter
- c.1025+18T>C Single submitter
- c.1025+24_1025+28del Single submitter
- c.1025+25TTTTG[2] Single submitter
- c.1025+25TTTTG[5] Single submitter
- c.1025+28T>C Single submitter
- c.1025+34G>C Single submitter
- c.1025+6T>C Single submitter
- c.1026-4A>C Single submitter
- c.1026-6T>C Single submitter
- c.1026-7_1026-6del Single submitter
- c.103+11C>T Single submitter
- c.103+18T>G Single submitter
- c.103+193dup Single submitter
- c.104-4_104-3dup Single submitter
- c.1170+20A>G Single submitter
- c.1170+8T>C Single submitter
- c.1170+9T>A Single submitter
- c.1171-11_1171-8del Single submitter
- c.1171-12T>C Single submitter
- c.1171-16A>T Single submitter
- c.1171-17A>C Single submitter
- c.1171-19A>G Single submitter
- c.1171-4T>C Single submitter
- c.1171-7C>T Single submitter
- c.1315+10T>C Single submitter
- c.1315+12A>G Single submitter
- c.1315+13A>G Single submitter
- c.1315+17T>A Single submitter
- c.1315+17T>C Single submitter
- c.1315+19T>C Single submitter
- c.1315+19T>G Single submitter
- c.1315+8_1315+10del Single submitter
- c.1316-16A>C Single submitter
- c.1316-18A>G Single submitter
- c.1316-4A>G Single submitter
- c.1316-5G>A Single submitter
- c.1497+12C>T Single submitter
- c.1497+14T>A Single submitter
- c.1497+18T>G Single submitter
- c.1497+19C>T Single submitter
- c.1497+46T>C Single submitter
- c.1497+8del Single submitter
- c.1498-8T>C Single submitter
- c.151+103T>G Single submitter
- c.152-19T>C Single submitter
- c.152-54A>G Single submitter
- c.152-663_152-662del Single submitter
- c.152-681A>G Single submitter
- c.1615+12A>T Single submitter
- c.1615+16C>A Single submitter
- c.1616-15T>G Single submitter
- c.1616-17T>C Single submitter
- c.1616-20T>G Single submitter
- c.1616-4T>A Single submitter
- c.1616-7C>G Single submitter
- c.1616-8T>C Single submitter
- c.1616-9C>T Single submitter
- c.1769+17A>G Single submitter
- c.1769+19A>G Single submitter
- c.1769+8A>G Single submitter
- c.1770-16_1770-14del Single submitter
- c.1770-3T>A Single submitter
- c.1770-4dup Single submitter
- c.1770-5T>C Single submitter
- c.1909+14G>A Single submitter
- c.1910-16_1910-15del Single submitter
- c.1910-18T>C Single submitter
- c.1910-20_1910-17del Single submitter
- c.1910-20C>G Single submitter
- c.1910-20C>T Single submitter
- c.1910-7T>C Single submitter
- c.284+14T>C Single submitter
- c.284+16A>C Single submitter
- c.284+18C>T Single submitter
- c.284+20C>A Single submitter
- c.284+9T>A Single submitter
- c.285-12dup Single submitter
- c.285-14C>T Single submitter
- c.285-8C>T Single submitter
- c.443+14G>A Single submitter
- c.443+9T>C Single submitter
- c.444-10T>A Single submitter
- c.444-17C>T Single submitter
- c.444-7A>C Single submitter
- c.45+19A>C Single submitter
- c.45+316T>G Single submitter
- c.45+331dup Single submitter
- c.45+370G>T Single submitter
- c.45+477A>G Single submitter
- c.45+503G>A Single submitter
- c.45+510_45+534del Single submitter
- c.46-12A>G Single submitter
- c.46-17A>G Single submitter
- c.46-19C>T Single submitter
- c.46-5T>C Single submitter
- c.46-7C>A Single submitter
- c.46-7C>G Single submitter
- c.46-9C>G Single submitter
- c.543+23_543+24del Single submitter
- c.544-14G>A Single submitter
- c.544-17A>G Single submitter
- c.544-19C>T Single submitter
- c.544-71T>G Single submitter
- c.544-8C>T Single submitter
- c.679+18G>A Single submitter
- c.680-11T>C Single submitter
- c.680-174_680-173del Single submitter
- c.680-17T>C Single submitter
- c.766-11T>C Single submitter
- c.766-11T>G Single submitter
- c.766-15T>A Single submitter
- c.766-15T>C Single submitter
- c.766-84A>G Single submitter
- c.766-8T>C Single submitter
- c.864+10A>C Single submitter
- c.864+7_864+8del Single submitter
- c.865-10T>C Single submitter
- c.865-17A>C Single submitter
- c.865-5T>G Single submitter
- c.865-9T>C Single submitter
- c.-72G>A Single submitter
- c.*165_*169del Single submitter
- n.129C>T Single submitter
- n.3196A>G Single submitter
- n.404G>C Single submitter
- n.409A>C Single submitter
- n.415del Single submitter
- p.Ala250= Single submitter
- p.Ala279= Single submitter
- p.Ala322= Single submitter
- p.Ala33= Single submitter
- p.Ala393= Single submitter
- p.Ala483= Single submitter
- p.Ala68= Single submitter
- p.Ala9= Single submitter
- p.Arg202= Single submitter
- p.Arg428= Single submitter
- p.Arg528= Single submitter
- p.Arg534= Single submitter
- p.Arg548= Single submitter
- p.Arg603= Single submitter
- p.Arg617= Single submitter
- p.Arg99= Single submitter
- p.Asn414= Single submitter
- p.Asp426= Single submitter
- p.Asp54= Single submitter
- p.Cys175= Single submitter
- p.Gln225= Single submitter
- p.Gln241Lys Single submitter ⚠
- p.Gln604= Single submitter
- p.Glu399= Single submitter
- p.Glu523= Single submitter
- p.Glu524= Single submitter
- p.Gly106= Single submitter
- p.Gly258= Single submitter
- p.Gly302= Single submitter
- p.Gly307= Single submitter
- p.Gly356= Single submitter
- p.Gly439= Single submitter
- p.Gly473= Single submitter
- p.Gly490= Single submitter
- p.Gly59= Single submitter
- p.Gly624= Single submitter
- p.Gly641= Single submitter
- p.Gly649= Single submitter
- p.Gly656= Single submitter
- p.His42= Single submitter Inborn genetic diseases
- p.His463= Single submitter
- p.His472= Single submitter
- p.His628= Single submitter
- p.Ile238= Single submitter
- p.Ile522= Single submitter
- p.Leu235= Single submitter
- p.Leu313= Single submitter
- p.Leu319= Single submitter
- p.Leu435= Single submitter
- p.Lys427= Single submitter
- p.Met574Val Single submitter ⚠
- p.Phe381= Single submitter
- p.Phe545= Single submitter
- p.Phe84= Single submitter
- p.Pro247= Single submitter
- p.Ser125= Single submitter
- p.Ser23= Single submitter
- p.Ser24= Single submitter
- p.Ser290= Single submitter
- p.Ser442= Single submitter
- p.Ser470= Single submitter
- p.Ser594= Single submitter
- p.Ser606= Single submitter
- p.Ser78= Single submitter
- p.Thr275= Single submitter
- p.Thr369= Single submitter
- p.Thr378= Single submitter
- p.Thr411= Single submitter
- p.Thr444= Single submitter
- p.Tyr200= Single submitter
- p.Tyr243= Single submitter
- p.Tyr266= Single submitter Inborn genetic diseases
- p.Tyr466= Single submitter
- p.Tyr525= Single submitter
- p.Tyr576= Single submitter
- p.Tyr648= Single submitter
- p.Val168= Single submitter
- p.Val405= Single submitter
- p.Val420= Single submitter
- p.Val422= Single submitter
- p.Val6= Single submitter
- c.104-23TA[8] No assertion criteria DDX3X-related disorder
Uncertain significance 223
- c.1026-3C>T Multiple submitters
- c.1770-2A>G Multiple submitters Inborn genetic diseases
- c.865-3_865-2del Multiple submitters
- p.Arg262Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg394Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg394His Multiple submitters ⚠
- p.Arg79Lys Multiple submitters intellectual disability, X-linked 102 ⚠
- p.Asp65Gly Multiple submitters Inborn genetic diseases ⚠
- p.Glu423Gly Multiple submitters ⚠
- p.Gly258Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly30Val Multiple submitters ⚠
- p.Gly629Ser Multiple submitters ⚠
- p.Ile158Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile179Thr Multiple submitters ⚠
- p.Ile190Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile268Val Multiple submitters ⚠
- p.Leu10Phe Multiple submitters ⚠
- p.Leu313Phe Multiple submitters ⚠
- p.Leu346Ser Multiple submitters ⚠
- p.Lys491Gln Multiple submitters intellectual disability, X-linked 102 ⚠
- p.Lys581Arg Multiple submitters ⚠
- p.Phe85del Multiple submitters intellectual disability, X-linked 102
- p.Ser619Asn Multiple submitters ⚠
- p.Ser621del Multiple submitters
- p.Ser82Cys Multiple submitters ⚠
- p.Tyr652Cys Multiple submitters DDX3X-related disorder ⚠
- p.Val513Ile Multiple submitters intellectual disability ⚠
- c.1025+146C>G Single submitter
- c.1025+4T>G Single submitter
- c.1026-7A>G Single submitter
- c.1026-8C>G Single submitter
- c.103+2_103+3dup Single submitter
- c.103+4_103+7del Single submitter intellectual disability, X-linked 102
- c.1315+4A>G Single submitter
- c.1315+7T>C Single submitter
- c.1316-6C>G Single submitter intellectual disability, X-linked 102
- c.1497+3A>G Single submitter
- c.1498-21C>G Single submitter intellectual disability, X-linked 102
- c.151+1_151+2dup Single submitter Inborn genetic diseases
- c.152-668T>C Single submitter
- c.1616-10A>G Single submitter
- c.1909+4dup Single submitter
- c.1909+6G>A Single submitter
- c.285-12T>A Single submitter intellectual disability, X-linked 102
- c.285-3C>T Single submitter
- c.444-10T>C Single submitter
- c.444-5T>G Single submitter
- c.45+615G>T Single submitter Inborn genetic diseases
- c.46-1339G>A Single submitter intellectual disability, X-linked 102
- c.679+131A>G Single submitter intellectual disability, X-linked 102
- c.680-17T>A Single submitter
- c.680-21_680-20delinsGA Single submitter
- c.765+4G>A Single submitter
- c.765+5A>G Single submitter
- c.765+6T>A Single submitter
- c.766-12C>G Single submitter
- c.*2606C>T Single submitter
- p.Ala170Val Single submitter ⚠
- p.Ala17Gly Single submitter ⚠
- p.Ala224Thr Single submitter intellectual disability, X-linked 102 ⚠
- p.Ala250Thr Single submitter ⚠
- p.Ala253Pro Single submitter ⚠
- p.Ala279Pro Single submitter intellectual disability, X-linked 102 ⚠
- p.Ala286Asp Single submitter intellectual disability, X-linked 102 ⚠
- p.Ala286Pro Single submitter Inborn genetic diseases ⚠
- p.Ala467Thr Single submitter ⚠
- p.Ala497Pro Single submitter ⚠
- p.Ala499= Single submitter
- p.Ala501Thr Single submitter intellectual disability, X-linked 102 ⚠
- p.Ala68Glu Single submitter ⚠
- p.Ala68Val Single submitter ⚠
- p.Arg101Gln Single submitter ⚠
- p.Arg110Cys Single submitter ⚠
- p.Arg110His Single submitter ⚠
- p.Arg121Cys Single submitter ⚠
- p.Arg121Leu Single submitter intellectual disability, X-linked 102 ⚠
- p.Arg199His Single submitter intellectual disability, X-linked 102 ⚠
- p.Arg199Ser Single submitter ⚠
- p.Arg202Cys Single submitter Inborn genetic diseases ⚠
- p.Arg218del Single submitter
- p.Arg294= Single submitter Inborn genetic diseases
- p.Arg296Ser Single submitter ⚠
- p.Arg315Cys Single submitter ⚠
- p.Arg333Lys Single submitter ⚠
- p.Arg407Ser Single submitter ⚠
- p.Arg428Trp Single submitter neurodevelopmental disorder ⚠
- p.Arg475His Single submitter ⚠
- p.Arg478Lys Single submitter ⚠
- p.Arg587Cys Single submitter ⚠
- p.Arg622_Ser623insAlaSerSerSerArg Single submitter
- p.Arg622Ser Single submitter ⚠
- p.Arg75His Single submitter ⚠
- p.Arg88Cys Single submitter ⚠
- p.Arg88His Single submitter ⚠
- p.Arg95Lys Single submitter ⚠
- p.Arg99Cys Single submitter ⚠
- p.Asn155Lys Single submitter ⚠
- p.Asn155Ser Single submitter ⚠
- p.Asn173Ser Single submitter ⚠
- p.Asn194Ser Single submitter ⚠
- p.Asn257His Single submitter ⚠
- p.Asn45Tyr Single submitter ⚠
- p.Asn644Ser Single submitter ⚠
- p.Asn662Ser Single submitter ⚠
- p.Asn8Ser Single submitter ⚠
- p.Asp103Glu Single submitter ⚠
- p.Asp134Glu Single submitter ⚠
- p.Asp134Val Single submitter intellectual disability, X-linked 102 ⚠
- p.Asp13Gly Single submitter ⚠
- p.Asp20Tyr Single submitter intellectual disability, X-linked 102 ⚠
- p.Asp219Glu Single submitter intellectual disability, X-linked 102 ⚠
- p.Asp347Ser Single submitter
- p.Asp368Gly Single submitter ⚠
- p.Asp398His Single submitter ⚠
- p.Asp474Val Single submitter intellectual disability, X-linked 102 ⚠
- p.Asp506Glu Single submitter ⚠
- p.Asp555Tyr Single submitter intellectual disability, X-linked 102 ⚠
- p.Cys128Tyr Single submitter ⚠
- p.Gln148Arg Single submitter ⚠
- p.Gln15= Single submitter Inborn genetic diseases
- p.Gln27Pro Single submitter ⚠
- p.Glu120Val Single submitter ⚠
- p.Glu144Gly Single submitter ⚠
- p.Glu249Lys Single submitter ⚠
- p.Glu256Lys Single submitter ⚠
- p.Glu547Val Single submitter neurodevelopmental disorder ⚠
- p.Gly11Arg Single submitter ⚠
- p.Gly18Asp Single submitter ⚠
- p.Gly36Val Single submitter intellectual disability, X-linked 102 ⚠
- p.Gly51Asp Single submitter ⚠
- p.Gly539Arg Single submitter ⚠
- p.Gly582Val Single submitter ⚠
- p.Gly607Ser Single submitter ⚠
- p.Gly624Ser Single submitter ⚠
- p.Gly625Arg Single submitter ⚠
- p.Gly636Arg Single submitter ⚠
- p.Gly638Cys Single submitter ⚠
- p.Gly641Asp Single submitter intellectual disability, X-linked 102 ⚠
- p.Gly650Glu Single submitter ⚠
- p.Gly80= Single submitter intellectual disability, X-linked 102
- p.Gly94Arg Single submitter ⚠
- p.His178Arg Single submitter ⚠
- p.His42Tyr Single submitter ⚠
- p.His485Tyr Single submitter ⚠
- p.His512Arg Single submitter ⚠
- p.His512Pro Single submitter ⚠
- p.His628Pro Single submitter ⚠
- p.Ile107Thr Single submitter ⚠
- p.Ile195Met Single submitter ⚠
- p.Ile268Leu Single submitter Inborn genetic diseases ⚠
- p.Ile514Ser Single submitter ⚠
- p.Ile522Thr Single submitter intellectual disability, X-linked 102 ⚠
- p.Ile550Thr Single submitter ⚠
- p.Ile550Val Single submitter ⚠
- p.Leu140Pro Single submitter ⚠
- p.Leu239Met Single submitter ⚠
- p.Leu320Ser Single submitter ⚠
- p.Leu344Phe Single submitter ⚠
- p.Leu432Phe Single submitter ⚠
- p.Leu432Pro Single submitter intellectual disability, X-linked 102 ⚠
- p.Leu443= Single submitter intellectual disability, X-linked 102
- p.Leu445Phe Single submitter Inborn genetic diseases ⚠
- p.Lys215Arg Single submitter Inborn genetic diseases ⚠
- p.Lys451Glu Single submitter ⚠
- p.Met254Val Single submitter ⚠
- p.Met352Ile Single submitter intellectual disability, X-linked 102 ⚠
- p.Phe116Ile Single submitter Inborn genetic diseases ⚠
- p.Phe116Leu Single submitter ⚠
- p.Phe340Tyr Single submitter ⚠
- p.Phe430Tyr Single submitter ⚠
- p.Phe447Val Single submitter intellectual disability, X-linked 102 ⚠
- p.Phe487Ser Single submitter intellectual disability, X-linked 102 ⚠
- p.Pro139Arg Single submitter ⚠
- p.Pro167Thr Single submitter ⚠
- p.Pro176Arg Single submitter Inborn genetic diseases ⚠
- p.Pro267Arg Single submitter ⚠
- p.Pro267Gln Single submitter ⚠
- p.Pro371Leu Single submitter ⚠
- p.Pro41His Single submitter intellectual disability, X-linked 102 ⚠
- p.Ser109Asn Single submitter ⚠
- p.Ser143Asn Single submitter ⚠
- p.Ser152Phe Single submitter ⚠
- p.Ser24_Asp25insSerSer Single submitter intellectual disability, X-linked 102
- p.Ser240Asn Single submitter ⚠
- p.Ser290Leu Single submitter ⚠
- p.Ser2Asn Single submitter ⚠
- p.Ser508Pro Single submitter ⚠
- p.Ser543Leu Single submitter Inborn genetic diseases ⚠
- p.Ser57Arg Single submitter ⚠
- p.Ser57Ile Single submitter Inborn genetic diseases ⚠
- p.Ser57Thr Single submitter Inborn genetic diseases ⚠
- p.Ser588Phe Single submitter ⚠
- p.Ser58Ala Single submitter ⚠
- p.Ser594Asn Single submitter ⚠
- p.Ser609Asn Single submitter ⚠
- p.Ser620Arg Single submitter intellectual disability, X-linked 102 ⚠
- p.Ser623Ile Single submitter ⚠
- p.Ser62Phe Single submitter ⚠
- p.Ser76Asn Single submitter ⚠
- p.Ser76del Single submitter
- p.Ser78Pro Single submitter ⚠
- p.Ser90Asn Single submitter ⚠
- p.Thr231Ser Single submitter intellectual disability, X-linked 102 ⚠
- p.Thr275Met Single submitter intellectual disability, X-linked 102 ⚠
- p.Thr323Ala Single submitter ⚠
- p.Thr323Ser Single submitter ⚠
- p.Thr469Ile Single submitter ⚠
- p.Thr542Ile Single submitter Inborn genetic diseases ⚠
- p.Thr553Ile Single submitter ⚠
- p.Trp60Leu Single submitter ⚠
- p.Trp660Ter Single submitter
- p.Tyr260Asn Single submitter ⚠
- p.Tyr602Cys Single submitter ⚠
- p.Val185Ile Single submitter ⚠
- p.Val419Ile Single submitter ⚠
- p.Val510Met Single submitter intellectual disability, X-linked 102 ⚠
- p.Val567Leu Single submitter ⚠
- p.Val657Ile Single submitter ⚠
- p.Arg351Trp No assertion criteria DDX3X-related disorder ⚠
- p.Asp219His No assertion criteria DDX3X-related disorder ⚠
- p.Gln360Glu No assertion criteria ⚠
- p.Gly193Val No assertion criteria Abnormal cerebral morphology ⚠
- p.Ser583Gly No assertion criteria DDX3X-related disorder ⚠