ADNP — 883 ClinVar variants
All ClinVar germline ADNP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 421 flagged for review →
105 Pathogenic · 5 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 64 Conflicting · 30 Benign · 35 Benign/Likely benign · 208 Likely benign · 392 Uncertain significance
Full ADNP gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 421
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
Predictors agree, ClinVar conflicts 39
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
ADNP p.Ala235Gly
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Ala355Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Ala390Gly
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Ala583Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Arg1007Lys
Conflicting
Single submitter
ADNP-related disorder
-
ADNP p.Arg1056Cys
Conflicting
Single submitter
Inborn genetic diseases
- ADNP p.Arg376Lys Conflicting Single submitter
-
ADNP p.Arg730Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Asn1079Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Asn115Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Asn867Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Cys514Gly
Conflicting
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Glu1086Asp
Conflicting
Single submitter
Inborn genetic diseases
- ADNP p.Glu924Asp Conflicting Single submitter
-
ADNP p.Glu937Lys
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Glu973Asp
Conflicting
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Glu990Lys
Conflicting
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Gly288Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Gly340Ser
Conflicting
Single submitter
Inborn genetic diseases
- ADNP p.Gly890Asp Conflicting Single submitter
-
ADNP p.His326Asp
Conflicting
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.His950Arg
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Ile221Ser
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Ile35Val
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Ile786Met
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Ile916Thr
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Ile939Phe
Conflicting
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Leu205Val
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Leu370Val
Conflicting
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Leu913Met
Conflicting
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Lys119Arg
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Lys926Glu
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Pro285Gln
Conflicting
Single submitter
Inborn genetic diseases
- ADNP p.Pro993Arg Conflicting Single submitter
-
ADNP p.Ser1031Asn
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Ser1058Pro
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Ser134Asn
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Ser280Asn
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Thr946Ala
Conflicting
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Predicted LoF vs a conflicting call 3
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.
-
ADNP p.Ala1017fs
Conflicting
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Arg1023fs
Conflicting
Single submitter
ADNP-related disorder
-
ADNP p.Gln1061fs
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 232
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 232
-
ADNP p.Ala713Val
Uncertain significance
Multiple submitters
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Ala858Thr
Uncertain significance
Multiple submitters
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Ala969Gly
Uncertain significance
Multiple submitters
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Arg296Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Asn951Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADNP p.Gln156Arg Uncertain significance Multiple submitters
-
ADNP p.Glu1024Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADNP p.Gly1094Arg Uncertain significance Multiple submitters
-
ADNP p.Gly1094Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Ile1069Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Ile1069Val
Uncertain significance
Multiple submitters
intellectual disability
-
ADNP p.Ile603Asn
Uncertain significance
Multiple submitters
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Leu370Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Met1080Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Met303Val
Uncertain significance
Multiple submitters
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Pro154Ser Uncertain significance Multiple submitters
-
ADNP p.Pro267His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Pro588Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Pro591Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Pro895Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Ser213Leu
Uncertain significance
Multiple submitters
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Ser219Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADNP p.Ser316Pro Uncertain significance Multiple submitters
-
ADNP p.Ser324Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADNP p.Val295Ile Uncertain significance Multiple submitters
-
ADNP p.Val343Ala
Uncertain significance
Multiple submitters
ADNP-related disorder
-
ADNP p.Val597Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADNP p.Ala1006Gly Uncertain significance Single submitter
-
ADNP p.Ala1017Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADNP p.Ala1102Thr
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Ala116Gly Uncertain significance Single submitter
- ADNP p.Ala135Thr Uncertain significance Single submitter
-
ADNP p.Ala291Gly
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Ala397Thr Uncertain significance Single submitter
- ADNP p.Ala397Val Uncertain significance Single submitter
-
ADNP p.Ala429Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Ala529Thr Uncertain significance Single submitter
- ADNP p.Ala612Ser Uncertain significance Single submitter
-
ADNP p.Ala78Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Ala78Thr Uncertain significance Single submitter
-
ADNP p.Ala801Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Ala862Gly Uncertain significance Single submitter
- ADNP p.Arg1007Gly Uncertain significance Single submitter
-
ADNP p.Arg1023Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Arg1056His Uncertain significance Single submitter
- ADNP p.Arg216Gln Uncertain significance Single submitter
- ADNP p.Arg532Trp Uncertain significance Single submitter
- ADNP p.Arg572Lys Uncertain significance Single submitter
- ADNP p.Arg70Trp Uncertain significance Single submitter
-
ADNP p.Arg94Cys
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Arg94His Uncertain significance Single submitter
-
ADNP p.Asn259His
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Asn354Ser Uncertain significance Single submitter
- ADNP p.Asn66Ser Uncertain significance Single submitter
- ADNP p.Asn832His Uncertain significance Single submitter
- ADNP p.Asn907Lys Uncertain significance Single submitter
- ADNP p.Asn987Ser Uncertain significance Single submitter
- ADNP p.Asp100Tyr Uncertain significance Single submitter
- ADNP p.Asp174Gly Uncertain significance Single submitter
- ADNP p.Asp174Val Uncertain significance Single submitter
- ADNP p.Asp68Glu Uncertain significance Single submitter
- ADNP p.Asp698Gly Uncertain significance Single submitter
- ADNP p.Asp735Asn Uncertain significance Single submitter
- ADNP p.Asp841Gly Uncertain significance Single submitter
- ADNP p.Asp873Asn Uncertain significance Single submitter
-
ADNP p.Asp877Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Asp961Val Uncertain significance Single submitter
- ADNP p.Cys167Arg Uncertain significance Single submitter
- ADNP p.Cys449Arg Uncertain significance Single submitter
- ADNP p.Cys514Arg Uncertain significance Single submitter
- ADNP p.Cys687Arg Uncertain significance Single submitter
- ADNP p.Gln1046Arg Uncertain significance Single submitter
- ADNP p.Gln1101Arg Uncertain significance Single submitter
-
ADNP p.Gln162Glu
Uncertain significance
Single submitter
ADNP-related disorder
- ADNP p.Gln238His Uncertain significance Single submitter
- ADNP p.Gln368Arg Uncertain significance Single submitter
- ADNP p.Gln406Leu Uncertain significance Single submitter
- ADNP p.Gln40Arg Uncertain significance Single submitter
- ADNP p.Gln959Pro Uncertain significance Single submitter
-
ADNP p.Glu1037Ala
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Glu1063Val Uncertain significance Single submitter
- ADNP p.Glu178Val Uncertain significance Single submitter
- ADNP p.Glu217Gly Uncertain significance Single submitter
-
ADNP p.Glu33Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Glu383Gln Uncertain significance Single submitter
- ADNP p.Glu599Asp Uncertain significance Single submitter
-
ADNP p.Glu785Lys
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Glu883Gly Uncertain significance Single submitter
- ADNP p.Glu937Val Uncertain significance Single submitter
- ADNP p.Glu943Ala Uncertain significance Single submitter
-
ADNP p.Glu964Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Glu973Gly Uncertain significance Single submitter
- ADNP p.Glu999Lys Uncertain significance Single submitter
- ADNP p.Gly1083Arg Uncertain significance Single submitter
- ADNP p.Gly318Val Uncertain significance Single submitter
- ADNP p.Gly344Asp Uncertain significance Single submitter
-
ADNP p.Gly381Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Gly696Ser Uncertain significance Single submitter
- ADNP p.Gly758Val Uncertain significance Single submitter
- ADNP p.Gly890Val Uncertain significance Single submitter
- ADNP p.Gly968Ser Uncertain significance Single submitter
- ADNP p.Gly977Ala Uncertain significance Single submitter
- ADNP p.Gly977Arg Uncertain significance Single submitter
-
ADNP p.His1089Arg
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.His244Arg Uncertain significance Single submitter
- ADNP p.His530Asn Uncertain significance Single submitter
- ADNP p.His559Gln Uncertain significance Single submitter
- ADNP p.His559Leu Uncertain significance Single submitter
-
ADNP p.His940Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Ile184Ser Uncertain significance Single submitter
- ADNP p.Ile221Val Uncertain significance Single submitter
- ADNP p.Ile247Thr Uncertain significance Single submitter
-
ADNP p.Ile451Val
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Ile536Thr Uncertain significance Single submitter
- ADNP p.Ile603Thr Uncertain significance Single submitter
- ADNP p.Ile800Phe Uncertain significance Single submitter
- ADNP p.Leu1026Phe Uncertain significance Single submitter
- ADNP p.Leu1026Val Uncertain significance Single submitter
- ADNP p.Leu176Pro Uncertain significance Single submitter
- ADNP p.Leu270Val Uncertain significance Single submitter
-
ADNP p.Leu394Val
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Leu706Ile Uncertain significance Single submitter
- ADNP p.Leu752Ser Uncertain significance Single submitter
- ADNP p.Leu882Phe Uncertain significance Single submitter
- ADNP p.Leu882Val Uncertain significance Single submitter
- ADNP p.Leu941Val Uncertain significance Single submitter
- ADNP p.Lys1014Gln Uncertain significance Single submitter
-
ADNP p.Lys1027Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Lys1035Thr Uncertain significance Single submitter
- ADNP p.Lys1048Asn Uncertain significance Single submitter
- ADNP p.Lys1096Glu Uncertain significance Single submitter
- ADNP p.Lys119Glu Uncertain significance Single submitter
- ADNP p.Lys169Asn Uncertain significance Single submitter
-
ADNP p.Lys203Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADNP p.Lys224Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Lys224Thr Uncertain significance Single submitter
- ADNP p.Lys470Glu Uncertain significance Single submitter
- ADNP p.Lys596Gln Uncertain significance Single submitter
- ADNP p.Lys777Arg Uncertain significance Single submitter
- ADNP p.Lys84Arg Uncertain significance Single submitter
- ADNP p.Lys864Arg Uncertain significance Single submitter
- ADNP p.Lys864Ile Uncertain significance Single submitter
- ADNP p.Lys914Asn Uncertain significance Single submitter
- ADNP p.Met1019Ile Uncertain significance Single submitter
-
ADNP p.Met1019Thr
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Met1080Val Uncertain significance Single submitter
- ADNP p.Met1088Val Uncertain significance Single submitter
- ADNP p.Met321Ile Uncertain significance Single submitter
- ADNP p.Met321Leu Uncertain significance Single submitter
- ADNP p.Met347Leu Uncertain significance Single submitter
Predictors split 146
The independent predictors disagree with each other — read with care.
- ADNP p.Ala580Val Uncertain significance Multiple submitters
-
ADNP p.Arg264Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Arg717Cys
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
ADNP p.Asn331Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Gln302His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Glu161Lys
Uncertain significance
Multiple submitters
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Glu747Lys Uncertain significance Multiple submitters
- ADNP p.Gly381Arg Likely benign Multiple submitters
-
ADNP p.Gly975Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.His686Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Ile197Val
Likely benign
Multiple submitters
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Leu307His Uncertain significance Multiple submitters
-
ADNP p.Lys49Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ADNP p.Phe85Leu Uncertain significance Multiple submitters
-
ADNP p.Pro273Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ADNP p.Ser974Arg
Likely benign
Multiple submitters
Inborn genetic diseases
-
ADNP p.Thr64Met
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
- ADNP p.Ala574Val Uncertain significance Single submitter
- ADNP p.Ala638Val Uncertain significance Single submitter
- ADNP p.Ala677Thr Uncertain significance Single submitter
-
ADNP p.Arg173Gln
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Arg225Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADNP p.Arg246Cys
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Arg296Trp
Uncertain significance
Single submitter
intellectual disability
- ADNP p.Arg496Cys Uncertain significance Single submitter
-
ADNP p.Arg518Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Arg532Gln Likely benign Single submitter
- ADNP p.Arg705Trp Uncertain significance Single submitter
-
ADNP p.Arg717His
Conflicting
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Arg730Pro Uncertain significance Single submitter
-
ADNP p.Arg784Gly
Uncertain significance
Single submitter
ADNP-related disorder
-
ADNP p.Arg813Cys
Conflicting
Single submitter
Inborn genetic diseases
- ADNP p.Arg813His Uncertain significance Single submitter
- ADNP p.Asn1053Tyr Uncertain significance Single submitter
-
ADNP p.Asn294Asp
Conflicting
Single submitter
Inborn genetic diseases
- ADNP p.Asn313Asp Uncertain significance Single submitter
- ADNP p.Asn330Tyr Uncertain significance Single submitter
-
ADNP p.Asn453Ser
Likely benign
Single submitter
Inborn genetic diseases
- ADNP p.Asn50Lys Uncertain significance Single submitter
- ADNP p.Asn695Asp Uncertain significance Single submitter
- ADNP p.Asn832Ile Likely benign Single submitter
- ADNP p.Asn95Asp Uncertain significance Single submitter
-
ADNP p.Asp243Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADNP p.Asp25Glu
Likely benign
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Asp761Glu Uncertain significance Single submitter
-
ADNP p.Asp863Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADNP p.Asp873Tyr
Conflicting
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Asp932His
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Asp958Tyr Uncertain significance Single submitter
- ADNP p.Cys31Tyr Uncertain significance Single submitter
- ADNP p.Cys811Arg Uncertain significance Single submitter
-
ADNP p.Gln329Glu
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Gln345Glu
Likely benign
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Gln384Arg Uncertain significance Single submitter
-
ADNP p.Gln387Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Gln3His Uncertain significance Single submitter
- ADNP p.Gln416Arg Uncertain significance Single submitter
- ADNP p.Gln416His Uncertain significance Single submitter
- ADNP p.Gln594Arg Benign Single submitter
-
ADNP p.Gln67His
Likely pathogenic
Single submitter
Inborn genetic diseases
- ADNP p.Glu1004Gln Likely benign Single submitter
-
ADNP p.Glu242Lys
Conflicting
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Glu468Gln Uncertain significance Single submitter
- ADNP p.Glu918Ala Uncertain significance Single submitter
-
ADNP p.Glu925Lys
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Gly288Cys Likely benign Single submitter
-
ADNP p.Gly375Arg
Likely benign
Single submitter
intellectual disability
- ADNP p.Gly379Arg Uncertain significance Single submitter
- ADNP p.Gly696Asp Likely benign Single submitter
- ADNP p.His686Asn Uncertain significance Single submitter
-
ADNP p.His686Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.His836Arg Uncertain significance Single submitter
-
ADNP p.Ile105Leu
Likely benign
Single submitter
Inborn genetic diseases
- ADNP p.Ile35Thr Uncertain significance Single submitter
-
ADNP p.Ile786Thr
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Leu455Phe Uncertain significance Single submitter
- ADNP p.Leu554Ser Uncertain significance Single submitter
- ADNP p.Leu668Phe Uncertain significance Single submitter
- ADNP p.Lys17Glu Uncertain significance Single submitter
- ADNP p.Lys278Glu Uncertain significance Single submitter
- ADNP p.Lys32Glu Likely benign Single submitter
- ADNP p.Lys367Asn Uncertain significance Single submitter
-
ADNP p.Lys596Asn
Conflicting
Single submitter
Inborn genetic diseases
- ADNP p.Lys658Arg Uncertain significance Single submitter
-
ADNP p.Lys728Gln
Uncertain significance
Single submitter
Developmental disorder
- ADNP p.Lys757Asn Likely benign Single submitter
- ADNP p.Lys788Thr Uncertain significance Single submitter
- ADNP p.Phe143Leu Uncertain significance Single submitter
- ADNP p.Phe41Leu Uncertain significance Single submitter
-
ADNP p.Phe770Leu
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Phe93Leu Uncertain significance Single submitter
-
ADNP p.Pro131Leu
Conflicting
Single submitter
Inborn genetic diseases
- ADNP p.Pro5His Uncertain significance Single submitter
- ADNP p.Pro5Leu Uncertain significance Single submitter
-
ADNP p.Pro710Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- ADNP p.Pro725Leu Uncertain significance Single submitter
-
ADNP p.Ser1032Cys
Conflicting
Single submitter
Inborn genetic diseases
- ADNP p.Ser1041Phe Uncertain significance Single submitter
- ADNP p.Ser1067Ile Uncertain significance Single submitter
- ADNP p.Ser134Arg Uncertain significance Single submitter
- ADNP p.Ser220Asn Uncertain significance Single submitter
- ADNP p.Ser24Arg Uncertain significance Single submitter
- ADNP p.Ser265Cys Uncertain significance Single submitter
-
ADNP p.Ser289Cys
Conflicting
Single submitter
Inborn genetic diseases
- ADNP p.Ser401Phe Uncertain significance Single submitter
- ADNP p.Ser424Cys Uncertain significance Single submitter
- ADNP p.Ser441Phe Likely benign Single submitter
- ADNP p.Ser441Tyr Uncertain significance Single submitter
-
ADNP p.Ser607Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADNP p.Ser62Leu
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Ser636Tyr Uncertain significance Single submitter
- ADNP p.Ser709Phe Uncertain significance Single submitter
- ADNP p.Ser711Ile Uncertain significance Single submitter
-
ADNP p.Ser792Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
ADNP p.Ser802Phe
Likely pathogenic
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
-
ADNP p.Ser854Phe
Conflicting
Single submitter
Inborn genetic diseases
-
ADNP p.Ser889Arg
Conflicting
Single submitter
Inborn genetic diseases
- ADNP p.Ser889Ile Uncertain significance Single submitter
- ADNP p.Ser953Phe Uncertain significance Single submitter
- ADNP p.Ser972Phe Uncertain significance Single submitter
- ADNP p.Ser978Phe Likely benign Single submitter
- ADNP p.Thr171Pro Uncertain significance Single submitter
- ADNP p.Thr433Ile Uncertain significance Single submitter
- ADNP p.Thr502Ile Uncertain significance Single submitter
- ADNP p.Thr51Ile Uncertain significance Single submitter
- ADNP p.Thr64Lys Uncertain significance Single submitter
- ADNP p.Thr652Met Uncertain significance Single submitter
-
ADNP p.Thr718Ile
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Trp53Arg Likely benign Single submitter
- ADNP p.Trp796Arg Uncertain significance Single submitter
-
ADNP p.Tyr378Cys
Likely benign
Single submitter
Inborn genetic diseases
- ADNP p.Tyr516His Uncertain significance Single submitter
- ADNP p.Val261Ala Conflicting Single submitter
- ADNP p.Val262Leu Uncertain significance Single submitter
- ADNP p.Val534Gly Uncertain significance Single submitter
- ADNP p.Val56Gly Uncertain significance Single submitter
- ADNP p.Val613Met Uncertain significance Single submitter
-
ADNP p.Val619Phe
Uncertain significance
Single submitter
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- ADNP p.Val715Met Uncertain significance Single submitter
-
ADNP p.Arg644Gln
Uncertain significance
No assertion criteria
microcephaly
-
ADNP p.Asp958His
Uncertain significance
No assertion criteria
ADNP-related disorder
-
ADNP p.Gln362Glu
Uncertain significance
No assertion criteria
Seizure
-
ADNP p.Gly825Glu
Uncertain significance
No assertion criteria
intellectual disability
-
ADNP p.Pro195Ser
Uncertain significance
No assertion criteria
microcephaly
-
ADNP p.Thr681Ser
Uncertain significance
No assertion criteria
ADNP-related disorder
-
ADNP p.Trp1064Cys
Uncertain significance
No assertion criteria
ADNP-related disorder
All ADNP variants
Pathogenic 105
- p.Arg173Ter Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Arg216Ter Multiple submitters intellectual disability
- p.Asn832fs Multiple submitters Inborn genetic diseases
- p.Glu218_Ser219insTer Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Lys773fs Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Lys829fs Multiple submitters
- p.Ser738fs Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ser738Ter Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Thr64fs Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Thr718_Tyr719insTer Multiple submitters ADNP-related disorder
- p.Trp446Ter Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Tyr378Ter Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Tyr719Ter Multiple submitters Inborn genetic diseases
- p.Tyr818Ter Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Val180fs Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Val19fs Multiple submitters
- c.-5-1G>C Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ala430fs Single submitter
- p.Arg264Ter Single submitter
- p.Arg306Ter Single submitter
- p.Arg644fs Single submitter
- p.Arg644Ter Single submitter
- p.Arg646fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Arg705fs Single submitter
- p.Arg730fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Asn214fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Asn398Ter Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Asn776fs Single submitter
- p.Asp551fs Single submitter
- p.Asp60fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Asp877fs Single submitter
- p.Gln162Ter Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Gln238Ter Single submitter
- p.Gln345_Ser346insTer Single submitter
- p.Gln368Ter Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Gln3Ter Single submitter
- p.Gln414fs Single submitter ADNP-related disorder
- p.Gln414Ter Single submitter intellectual disability
- p.Gln556Ter Single submitter
- p.Gln778Ter Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Glu202Ter Single submitter
- p.Glu245Ter Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Glu723fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Glu744Ter Single submitter
- p.Glu747Ter Single submitter
- p.Gly282fs Single submitter
- p.His510fs Single submitter
- p.Ile35fs Single submitter
- p.Leu121Ter Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Leu12Ter Single submitter
- p.Leu152_Lys153insTer Single submitter
- p.Leu176_Tyr177insTer Single submitter Inborn genetic diseases
- p.Leu23fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Leu28fs Single submitter
- p.Leu314fs Single submitter
- p.Leu369fs Single submitter
- p.Leu412fs Single submitter
- p.Leu626fs Single submitter
- p.Leu726fs Single submitter
- p.Leu793Ter Single submitter
- p.Lys20fs Single submitter
- p.Lys274fs Single submitter
- p.Lys32fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Lys467fs Single submitter
- p.Lys729fs Single submitter
- p.Lys731_Leu732insTer Single submitter
- p.Lys757fs Single submitter
- p.Lys807fs Single submitter
- p.Lys809fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Lys833fs Single submitter Inborn genetic diseases
- p.Met1Thr Single submitter
- p.Met1Val Single submitter
- p.Met828fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Phe770_Leu771insTer Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Pro5fs Single submitter
- p.Pro604fs Single submitter
- p.Pro703fs Single submitter
- p.Ser1045Ter Single submitter
- p.Ser1071fs Single submitter
- p.Ser24fs Single submitter
- p.Ser24Ter Single submitter
- p.Ser403fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ser678Ter Single submitter
- p.Ser763fs Single submitter Inborn genetic diseases
- p.Ser769fs Single submitter
- p.Thr113fs Single submitter
- p.Thr544fs Single submitter Inborn genetic diseases
- p.Thr622fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Trp796Ter Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Tyr111fs Single submitter
- p.Tyr378fs Single submitter
- p.Tyr569Ter Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Tyr719_Glu720delinsTer Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Tyr719fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Tyr764Ter Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Tyr774fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Tyr774Ter Single submitter Inborn genetic diseases
- p.Tyr818fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Val343fs Single submitter
- p.Val834fs Single submitter Inborn genetic diseases
- p.Gln345Ter No assertion criteria ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Lys935_Tyr936insTer No assertion criteria ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ser300fs No assertion criteria ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ser396fs No assertion criteria intellectual disability
- p.Ser404Ter No assertion criteria ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Pathogenic/Likely pathogenic 5
- p.Arg225Ter Multiple submitters Global developmental delay
- p.Arg730Ter Multiple submitters Inborn genetic diseases
- p.Ile22fs Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Leu831fs Multiple submitters Inborn genetic diseases
- p.Ser955fs Multiple submitters Inborn genetic diseases
Likely pathogenic 44
- p.Asn905Ter Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- c.108+1G>A Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- c.202-5_202-1del Single submitter ADNP-related disorder
- c.-89-3923_201+2793inv Single submitter intellectual disability
- p.Asn108fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Asn585fs Single submitter
- p.Asn857fs Single submitter
- p.Asp277fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Asp762fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Asp983fs Single submitter
- p.Cys109Tyr Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Cys667Phe Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Gln67His Single submitter Inborn genetic diseases ⚠
- p.Gln697fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Gln980Ter Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Glu36fs Single submitter
- p.Glu42Ter Single submitter Neurodevelopmental delay
- p.Glu468fs Single submitter
- p.Glu760fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Glu760Ter Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Gly438fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ile179fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Leu394fs Single submitter
- p.Leu732fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Leu823Trp Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Lys148fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Lys279fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Lys408fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Lys777fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Met722fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Phe143fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Pro739fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ser711fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ser802Phe Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Ser889fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Thr443Ala Single submitter ⚠
- p.Tyr172Ter Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Tyr461_Ser462delinsTer Single submitter
- p.Val237fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Asp573fs No assertion criteria ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Gln423fs No assertion criteria ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Leu349fs No assertion criteria ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ter1103LeuextTer? No assertion criteria
- p.Val751fs No assertion criteria autism spectrum disorder
Conflicting classifications of pathogenicity 64
- p.Ala1017fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Ala235Gly Single submitter Inborn genetic diseases ⚠
- p.Ala355Thr Single submitter Inborn genetic diseases ⚠
- p.Ala390Gly Single submitter Inborn genetic diseases ⚠
- p.Ala583Ser Single submitter Inborn genetic diseases ⚠
- p.Arg1007Lys Single submitter ADNP-related disorder ⚠
- p.Arg1023fs Single submitter ADNP-related disorder ⚠
- p.Arg1056Cys Single submitter Inborn genetic diseases ⚠
- p.Arg173Gln Single submitter Inborn genetic diseases ⚠
- p.Arg376Lys Single submitter ⚠
- p.Arg717His Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Arg730Gln Single submitter Inborn genetic diseases ⚠
- p.Arg813Cys Single submitter Inborn genetic diseases ⚠
- p.Asn1079del Single submitter
- p.Asn1079Ser Single submitter Inborn genetic diseases ⚠
- p.Asn115Ser Single submitter Inborn genetic diseases ⚠
- p.Asn294Asp Single submitter Inborn genetic diseases ⚠
- p.Asn867Ser Single submitter Inborn genetic diseases ⚠
- p.Asp850del Single submitter Inborn genetic diseases
- p.Asp873Tyr Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Cys223= Single submitter
- p.Cys514Gly Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Gln1061fs Single submitter Inborn genetic diseases ⚠
- p.Gln329Glu Single submitter Inborn genetic diseases ⚠
- p.Glu1086Asp Single submitter Inborn genetic diseases ⚠
- p.Glu242Lys Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Glu924Asp Single submitter ⚠
- p.Glu937Lys Single submitter Inborn genetic diseases ⚠
- p.Glu973Asp Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Glu990Lys Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Gly288Ser Single submitter Inborn genetic diseases ⚠
- p.Gly340Ser Single submitter Inborn genetic diseases ⚠
- p.Gly890Asp Single submitter ⚠
- p.His326Asp Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.His950Arg Single submitter Inborn genetic diseases ⚠
- p.Ile221Ser Single submitter Inborn genetic diseases ⚠
- p.Ile35Val Single submitter Inborn genetic diseases ⚠
- p.Ile786Met Single submitter Inborn genetic diseases ⚠
- p.Ile800= Single submitter Inborn genetic diseases
- p.Ile916Thr Single submitter Inborn genetic diseases ⚠
- p.Ile939Phe Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Leu205Val Single submitter Inborn genetic diseases ⚠
- p.Leu370Val Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Leu58= Single submitter
- p.Leu913Met Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Lys1016del Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Lys119Arg Single submitter Inborn genetic diseases ⚠
- p.Lys596Asn Single submitter Inborn genetic diseases ⚠
- p.Lys926Glu Single submitter Inborn genetic diseases ⚠
- p.Phe742del Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Pro131Leu Single submitter Inborn genetic diseases ⚠
- p.Pro285Gln Single submitter Inborn genetic diseases ⚠
- p.Pro993Arg Single submitter ⚠
- p.Ser1031Asn Single submitter Inborn genetic diseases ⚠
- p.Ser1032Cys Single submitter Inborn genetic diseases ⚠
- p.Ser1058Pro Single submitter Inborn genetic diseases ⚠
- p.Ser134Asn Single submitter Inborn genetic diseases ⚠
- p.Ser280Asn Single submitter Inborn genetic diseases ⚠
- p.Ser289Cys Single submitter Inborn genetic diseases ⚠
- p.Ser854Phe Single submitter Inborn genetic diseases ⚠
- p.Ser889Arg Single submitter Inborn genetic diseases ⚠
- p.Thr946Ala Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Tyr1033= Single submitter
- p.Val261Ala Single submitter ⚠
Benign 30
- c.108+124C>T Multiple submitters
- c.108+233G>A Multiple submitters
- c.*50A>C Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Asn374= Multiple submitters
- p.Gly689= Multiple submitters Inborn genetic diseases
- p.Lys692= Multiple submitters Inborn genetic diseases
- p.Val856= Multiple submitters Inborn genetic diseases
- c.108+280A>C Single submitter
- c.202-303G>A Single submitter
- p.Ala1017Gly Single submitter
- p.Ala291Thr Single submitter
- p.Ala791= Single submitter
- p.Asn951Asp Single submitter
- p.Asp523= Single submitter
- p.Asp932Val Single submitter
- p.Gln362= Single submitter
- p.Gln594Arg Single submitter ⚠
- p.Glu964= Single submitter
- p.His642= Single submitter
- p.His97= Single submitter
- p.Leu1026= Single submitter
- p.Leu402Val Single submitter
- p.Lys768= Single submitter
- p.Lys817= Single submitter
- p.Pro436= Single submitter
- p.Pro725= Single submitter
- p.Ser404= Single submitter
- p.Ser972= Single submitter
- p.Thr652= Single submitter
- p.Tyr378= Single submitter
Benign/Likely benign 35
- p.Ala1093= Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ala388Val Multiple submitters Inborn genetic diseases
- p.Arg717Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asn585Ser Multiple submitters Inborn genetic diseases
- p.Asp906Asn Multiple submitters Inborn genetic diseases
- p.Asp928His Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Asp998= Multiple submitters Inborn genetic diseases
- p.Gln1020Glu Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Gln584= Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Glu909Lys Multiple submitters
- p.Gly825= Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Gly977= Multiple submitters Inborn genetic diseases
- p.Ile1062Thr Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ile179Val Multiple submitters Inborn genetic diseases
- p.Ile359Val Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ile939Leu Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Leu412Val Multiple submitters
- p.Lys279del Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Lys773Glu Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Lys852Glu Multiple submitters Inborn genetic diseases
- p.Met303Ile Multiple submitters Inborn genetic diseases
- p.Met347Val Multiple submitters Inborn genetic diseases
- p.Met991Val Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Phe770= Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Pro131= Multiple submitters Inborn genetic diseases
- p.Pro267= Multiple submitters
- p.Pro917Ser Multiple submitters Inborn genetic diseases
- p.Ser141dup Multiple submitters Inborn genetic diseases
- p.Ser393= Multiple submitters Inborn genetic diseases
- p.Ser889Thr Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Thr553= Multiple submitters
- p.Thr64Met Multiple submitters Inborn genetic diseases ⚠
- p.Val915Ile Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Val962Asp Multiple submitters Inborn genetic diseases
- p.Val981= Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
Likely benign 208
- c.109-5T>C Multiple submitters Inborn genetic diseases
- p.Ala1006Glu Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ala135= Multiple submitters
- p.Ala528= Multiple submitters
- p.Arg306Gln Multiple submitters Inborn genetic diseases
- p.Asn1049= Multiple submitters Inborn genetic diseases
- p.Asn459= Multiple submitters Inborn genetic diseases
- p.Asn857Ser Multiple submitters Inborn genetic diseases
- p.Asn887Ser Multiple submitters Inborn genetic diseases
- p.Asn905= Multiple submitters
- p.Gln959= Multiple submitters Inborn genetic diseases
- p.Glu161= Multiple submitters Inborn genetic diseases
- p.Gly10= Multiple submitters Inborn genetic diseases
- p.Gly338= Multiple submitters Inborn genetic diseases
- p.Gly379= Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Gly381Arg Multiple submitters ⚠
- p.Gly821= Multiple submitters Inborn genetic diseases
- p.His222= Multiple submitters Inborn genetic diseases
- p.His464= Multiple submitters Inborn genetic diseases
- p.Ile1069= Multiple submitters
- p.Ile127Val Multiple submitters Inborn genetic diseases
- p.Ile197Val Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Ile241= Multiple submitters
- p.Leu307= Multiple submitters
- p.Leu327= Multiple submitters
- p.Lys930Glu Multiple submitters Inborn genetic diseases
- p.Met533Val Multiple submitters Inborn genetic diseases
- p.Pro588= Multiple submitters Inborn genetic diseases
- p.Pro591Ser Multiple submitters Inborn genetic diseases
- p.Pro739Ser Multiple submitters
- p.Pro892= Multiple submitters
- p.Ser1003= Multiple submitters Inborn genetic diseases
- p.Ser134= Multiple submitters Inborn genetic diseases
- p.Ser425= Multiple submitters Inborn genetic diseases
- p.Ser802= Multiple submitters
- p.Ser82= Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ser974Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ser978= Multiple submitters
- p.Thr317Ala Multiple submitters Inborn genetic diseases
- p.Thr568= Multiple submitters
- p.Tyr332Phe Multiple submitters Inborn genetic diseases
- p.Tyr719= Multiple submitters
- p.Val209= Multiple submitters Inborn genetic diseases
- c.109-14del Single submitter
- c.109-16T>C Single submitter
- c.109-6T>C Single submitter
- c.201+11C>T Single submitter
- c.201+17A>G Single submitter
- c.202-13G>A Single submitter
- c.202-13G>C Single submitter
- c.-198T>C Single submitter
- c.-5-232C>T Single submitter
- c.*1471C>T Single submitter
- c.*1513A>C Single submitter
- c.*1576G>A Single submitter
- p.Ala157Ser Single submitter
- p.Ala200Val Single submitter
- p.Ala272= Single submitter
- p.Ala355= Single submitter
- p.Ala476= Single submitter
- p.Ala858= Single submitter
- p.Ala858Gly Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Ala920Val Single submitter
- p.Ala952= Single submitter
- p.Arg104= Single submitter
- p.Arg1056= Single submitter
- p.Arg225Gln Single submitter
- p.Arg264= Single submitter
- p.Arg306= Single submitter Inborn genetic diseases
- p.Arg518His Single submitter Inborn genetic diseases
- p.Arg532= Single submitter
- p.Arg532Gln Single submitter ⚠
- p.Arg644= Single submitter
- p.Arg784= Single submitter
- p.Asn132= Single submitter
- p.Asn354= Single submitter
- p.Asn453Ser Single submitter Inborn genetic diseases ⚠
- p.Asn495= Single submitter
- p.Asn561= Single submitter
- p.Asn570= Single submitter
- p.Asn674= Single submitter
- p.Asn827= Single submitter
- p.Asn832Ile Single submitter ⚠
- p.Asn832Tyr Single submitter Inborn genetic diseases
- p.Asn867= Single submitter Inborn genetic diseases
- p.Asn95= Single submitter Inborn genetic diseases
- p.Asp1022= Single submitter
- p.Asp25Glu Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Asp545= Single submitter
- p.Asp735Ala Single submitter
- p.Asp755= Single submitter
- p.Asp853= Single submitter
- p.Asp877= Single submitter
- p.Asp919Val Single submitter
- p.Asp932Gly Single submitter
- p.Asp961= Single submitter
- p.Asp961del Single submitter
- p.Asp967= Single submitter Inborn genetic diseases
- p.Cys667= Single submitter
- p.Cys811Asn Single submitter
- p.Gln1100= Single submitter
- p.Gln301= Single submitter
- p.Gln345Glu Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Gln708= Single submitter
- p.Glu1004Gln Single submitter ⚠
- p.Glu1024= Single submitter
- p.Glu1024Gln Single submitter Inborn genetic diseases
- p.Glu1052= Single submitter
- p.Glu1075Lys Single submitter
- p.Glu234= Single submitter
- p.Glu723Gln Single submitter
- p.Glu843= Single submitter
- p.Glu843Gln Single submitter
- p.Glu851Asp Single submitter
- p.Gly1034Arg Single submitter
- p.Gly1074= Single submitter
- p.Gly207= Single submitter Inborn genetic diseases
- p.Gly288Cys Single submitter ⚠
- p.Gly373= Single submitter
- p.Gly375Arg Single submitter intellectual disability ⚠
- p.Gly696Asp Single submitter ⚠
- p.His183= Single submitter
- p.His759= Single submitter
- p.Ile105Leu Single submitter Inborn genetic diseases ⚠
- p.Ile309Val Single submitter Inborn genetic diseases
- p.Ile562= Single submitter
- p.Ile916Phe Single submitter Inborn genetic diseases
- p.Leu107= Single submitter
- p.Leu370= Single submitter
- p.Leu412= Single submitter
- p.Leu48= Single submitter
- p.Leu631= Single submitter
- p.Leu732= Single submitter
- p.Leu752= Single submitter
- p.Leu845= Single submitter
- p.Leu948Arg Single submitter
- p.Lys1035Arg Single submitter
- p.Lys1042= Single submitter
- p.Lys1096= Single submitter
- p.Lys14Arg Single submitter Developmental disorder
- p.Lys153= Single submitter
- p.Lys203= Single submitter
- p.Lys231= Single submitter
- p.Lys32Glu Single submitter ⚠
- p.Lys592= Single submitter
- p.Lys616Arg Single submitter
- p.Lys632= Single submitter
- p.Lys757Asn Single submitter ⚠
- p.Lys788= Single submitter
- p.Lys810= Single submitter
- p.Lys870= Single submitter
- p.Met531Leu Single submitter
- p.Met722Ile Single submitter Inborn genetic diseases
- p.Phe465= Single submitter
- p.Phe879Ser Single submitter
- p.Pro273= Single submitter
- p.Pro285= Single submitter
- p.Pro356= Single submitter
- p.Pro360= Single submitter
- p.Pro410Leu Single submitter
- p.Pro587Ser Single submitter Inborn genetic diseases
- p.Pro591= Single submitter Inborn genetic diseases
- p.Pro749Arg Single submitter
- p.Pro779= Single submitter Inborn genetic diseases
- p.Pro781= Single submitter
- p.Pro895Arg Single submitter Inborn genetic diseases
- p.Pro917= Single submitter
- p.Ser1000= Single submitter
- p.Ser1032= Single submitter
- p.Ser213= Single submitter
- p.Ser308= Single submitter
- p.Ser316= Single submitter
- p.Ser316Ala Single submitter
- p.Ser358= Single submitter Inborn genetic diseases
- p.Ser363= Single submitter
- p.Ser382= Single submitter
- p.Ser400= Single submitter
- p.Ser403= Single submitter
- p.Ser441Phe Single submitter ⚠
- p.Ser738Leu Single submitter
- p.Ser77= Single submitter
- p.Ser876= Single submitter
- p.Ser921= Single submitter Inborn genetic diseases
- p.Ser921Leu Single submitter Inborn genetic diseases
- p.Ser978Phe Single submitter ⚠
- p.Thr317Ile Single submitter
- p.Thr440Ser Single submitter
- p.Thr52= Single submitter
- p.Thr64= Single submitter
- p.Thr676= Single submitter
- p.Thr718Ser Single submitter
- p.Thr772= Single submitter
- p.Thr782= Single submitter
- p.Thr995= Single submitter
- p.Trp53Arg Single submitter ⚠
- p.Tyr378Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr936= Single submitter
- p.Val1084= Single submitter
- p.Val251= Single submitter
- p.Val319= Single submitter
- p.Val420Ala Single submitter
- p.Val463Ala Single submitter Inborn genetic diseases
- p.Val579= Single submitter
- p.Val812= Single submitter
- p.Val822= Single submitter
- p.Val834= Single submitter
- p.Val912Ala Single submitter
- p.Met531Thr No assertion criteria intellectual disability
Uncertain significance 392
Showing the top 300 by review status; the full set is in the sitemap.
- c.108+6T>C Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- c.109-7T>C Multiple submitters
- c.-5-6dup Multiple submitters
- p.Ala580Val Multiple submitters ⚠
- p.Ala713Val Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Ala858Thr Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Ala969Gly Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Arg264Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg296Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn331Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asn951Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp735del Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Gln156Arg Multiple submitters ⚠
- p.Gln302His Multiple submitters Inborn genetic diseases ⚠
- p.Glu1024Val Multiple submitters Inborn genetic diseases ⚠
- p.Glu161Lys Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Glu747Lys Multiple submitters ⚠
- p.Glu990Ser Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Gly1094Arg Multiple submitters ⚠
- p.Gly1094Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly975Trp Multiple submitters Inborn genetic diseases ⚠
- p.His686Asp Multiple submitters Inborn genetic diseases ⚠
- p.Ile1069Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ile1069Val Multiple submitters intellectual disability ⚠
- p.Ile603Asn Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Leu307His Multiple submitters ⚠
- p.Leu370Ile Multiple submitters Inborn genetic diseases ⚠
- p.Lys49Asn Multiple submitters Inborn genetic diseases ⚠
- p.Met1080Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met303Val Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Met991_Pro993del Multiple submitters
- p.Phe85Leu Multiple submitters ⚠
- p.Pro154Ser Multiple submitters ⚠
- p.Pro267His Multiple submitters Inborn genetic diseases ⚠
- p.Pro273Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro588Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro591Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro895Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser213Leu Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Ser219Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ser316Pro Multiple submitters ⚠
- p.Ser324Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val1084fs Multiple submitters ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Val295Ile Multiple submitters ⚠
- p.Val343Ala Multiple submitters ADNP-related disorder ⚠
- p.Val597Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val963del Multiple submitters
- c.108+7A>G Single submitter
- c.201+16G>A Single submitter
- c.201+19T>C Single submitter
- c.201+1G>T Single submitter Inborn genetic diseases
- c.-130T>G Single submitter
- c.-2C>A Single submitter
- c.-3A>G Single submitter
- c.-5-1G>A Single submitter
- c.-5-4A>G Single submitter
- c.-90+9900G>C Single submitter
- c.*1446A>G Single submitter
- p.Ala1006Gly Single submitter ⚠
- p.Ala1017Val Single submitter Inborn genetic diseases ⚠
- p.Ala1102Thr Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Ala116Gly Single submitter ⚠
- p.Ala135Thr Single submitter ⚠
- p.Ala291Gly Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Ala397Thr Single submitter ⚠
- p.Ala397Val Single submitter ⚠
- p.Ala429Val Single submitter Inborn genetic diseases ⚠
- p.Ala529Thr Single submitter ⚠
- p.Ala574= Single submitter
- p.Ala574Val Single submitter ⚠
- p.Ala612Ser Single submitter ⚠
- p.Ala638Val Single submitter ⚠
- p.Ala677Thr Single submitter ⚠
- p.Ala78Ser Single submitter Inborn genetic diseases ⚠
- p.Ala78Thr Single submitter ⚠
- p.Ala801Thr Single submitter Inborn genetic diseases ⚠
- p.Ala862Gly Single submitter ⚠
- p.Arg1007Gly Single submitter ⚠
- p.Arg1023Lys Single submitter Inborn genetic diseases ⚠
- p.Arg1056His Single submitter ⚠
- p.Arg216Gln Single submitter ⚠
- p.Arg225Leu Single submitter Inborn genetic diseases ⚠
- p.Arg246Cys Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Arg264fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Arg296Trp Single submitter intellectual disability ⚠
- p.Arg496Cys Single submitter ⚠
- p.Arg518Cys Single submitter Inborn genetic diseases ⚠
- p.Arg532Trp Single submitter ⚠
- p.Arg572Lys Single submitter ⚠
- p.Arg70= Single submitter
- p.Arg705Trp Single submitter ⚠
- p.Arg70Trp Single submitter ⚠
- p.Arg730Pro Single submitter ⚠
- p.Arg784Gly Single submitter ADNP-related disorder ⚠
- p.Arg813His Single submitter ⚠
- p.Arg94Cys Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Arg94His Single submitter ⚠
- p.Asn1053Tyr Single submitter ⚠
- p.Asn1079fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Asn259His Single submitter Inborn genetic diseases ⚠
- p.Asn313Asp Single submitter ⚠
- p.Asn330Tyr Single submitter ⚠
- p.Asn354Ser Single submitter ⚠
- p.Asn50Lys Single submitter ⚠
- p.Asn66Ser Single submitter ⚠
- p.Asn695Asp Single submitter ⚠
- p.Asn832His Single submitter ⚠
- p.Asn905del Single submitter Inborn genetic diseases
- p.Asn907Lys Single submitter ⚠
- p.Asn95Asp Single submitter ⚠
- p.Asn987Ser Single submitter ⚠
- p.Asp100Tyr Single submitter ⚠
- p.Asp1082_Gly1083insAsp Single submitter
- p.Asp158= Single submitter
- p.Asp174Gly Single submitter ⚠
- p.Asp174Val Single submitter ⚠
- p.Asp243Gly Single submitter Inborn genetic diseases ⚠
- p.Asp25= Single submitter
- p.Asp55Phe Single submitter
- p.Asp68Glu Single submitter ⚠
- p.Asp698Gly Single submitter ⚠
- p.Asp735Asn Single submitter ⚠
- p.Asp761Glu Single submitter ⚠
- p.Asp841Gly Single submitter ⚠
- p.Asp863Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp873Asn Single submitter ⚠
- p.Asp877Asn Single submitter Inborn genetic diseases ⚠
- p.Asp906del Single submitter
- p.Asp932His Single submitter Inborn genetic diseases ⚠
- p.Asp958Tyr Single submitter ⚠
- p.Asp961Val Single submitter ⚠
- p.Cys167Arg Single submitter ⚠
- p.Cys31Tyr Single submitter ⚠
- p.Cys449Arg Single submitter ⚠
- p.Cys514Arg Single submitter ⚠
- p.Cys687Arg Single submitter ⚠
- p.Cys811Arg Single submitter ⚠
- p.Gln1046Arg Single submitter ⚠
- p.Gln1061Arg Single submitter
- p.Gln1101Arg Single submitter ⚠
- p.Gln162Glu Single submitter ADNP-related disorder ⚠
- p.Gln238His Single submitter ⚠
- p.Gln368Arg Single submitter ⚠
- p.Gln384Arg Single submitter ⚠
- p.Gln387Lys Single submitter Inborn genetic diseases ⚠
- p.Gln3His Single submitter ⚠
- p.Gln406Leu Single submitter ⚠
- p.Gln40Arg Single submitter ⚠
- p.Gln416Arg Single submitter ⚠
- p.Gln416His Single submitter ⚠
- p.Gln444= Single submitter
- p.Gln959Pro Single submitter ⚠
- p.Glu1024fs Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
- p.Glu1037Ala Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Glu1063Val Single submitter ⚠
- p.Glu178Val Single submitter ⚠
- p.Glu217Gly Single submitter ⚠
- p.Glu33Gly Single submitter Inborn genetic diseases ⚠
- p.Glu383Gln Single submitter ⚠
- p.Glu454= Single submitter
- p.Glu468Gln Single submitter ⚠
- p.Glu599Asp Single submitter ⚠
- p.Glu765= Single submitter
- p.Glu785Lys Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Glu883Gly Single submitter ⚠
- p.Glu885del Single submitter
- p.Glu918Ala Single submitter ⚠
- p.Glu925Lys Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Glu937Val Single submitter ⚠
- p.Glu943Ala Single submitter ⚠
- p.Glu964Lys Single submitter Inborn genetic diseases ⚠
- p.Glu973_Ser978delinsAla Single submitter
- p.Glu973Gly Single submitter ⚠
- p.Glu999Lys Single submitter ⚠
- p.Gly1083Arg Single submitter ⚠
- p.Gly318Val Single submitter ⚠
- p.Gly344Asp Single submitter ⚠
- p.Gly379Arg Single submitter ⚠
- p.Gly381Val Single submitter Inborn genetic diseases ⚠
- p.Gly696Ser Single submitter ⚠
- p.Gly758Val Single submitter ⚠
- p.Gly890Val Single submitter ⚠
- p.Gly968Ser Single submitter ⚠
- p.Gly977Ala Single submitter ⚠
- p.Gly977Arg Single submitter ⚠
- p.His1089Arg Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.His244Arg Single submitter ⚠
- p.His530Asn Single submitter ⚠
- p.His559= Single submitter
- p.His559Gln Single submitter ⚠
- p.His559Leu Single submitter ⚠
- p.His686Asn Single submitter ⚠
- p.His686Tyr Single submitter Inborn genetic diseases ⚠
- p.His836Arg Single submitter ⚠
- p.His940Pro Single submitter Inborn genetic diseases ⚠
- p.Ile184Ser Single submitter ⚠
- p.Ile221Val Single submitter ⚠
- p.Ile247Thr Single submitter ⚠
- p.Ile287= Single submitter
- p.Ile35Thr Single submitter ⚠
- p.Ile451Val Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Ile536Thr Single submitter ⚠
- p.Ile603Thr Single submitter ⚠
- p.Ile786Thr Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Ile800Phe Single submitter ⚠
- p.Leu1026Phe Single submitter ⚠
- p.Leu1026Val Single submitter ⚠
- p.Leu176Pro Single submitter ⚠
- p.Leu270Val Single submitter ⚠
- p.Leu394Val Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Leu455Phe Single submitter ⚠
- p.Leu554Ser Single submitter ⚠
- p.Leu668Phe Single submitter ⚠
- p.Leu706Ile Single submitter ⚠
- p.Leu752Ser Single submitter ⚠
- p.Leu882Phe Single submitter ⚠
- p.Leu882Val Single submitter ⚠
- p.Leu941Val Single submitter ⚠
- p.Lys1014Gln Single submitter ⚠
- p.Lys1027Glu Single submitter Inborn genetic diseases ⚠
- p.Lys1035Thr Single submitter ⚠
- p.Lys1048Asn Single submitter ⚠
- p.Lys1096Glu Single submitter ⚠
- p.Lys119Glu Single submitter ⚠
- p.Lys169Asn Single submitter ⚠
- p.Lys17Glu Single submitter ⚠
- p.Lys203Glu Single submitter Inborn genetic diseases ⚠
- p.Lys224Arg Single submitter Inborn genetic diseases ⚠
- p.Lys224Thr Single submitter ⚠
- p.Lys278Glu Single submitter ⚠
- p.Lys311= Single submitter
- p.Lys367Asn Single submitter ⚠
- p.Lys470Glu Single submitter ⚠
- p.Lys596Gln Single submitter ⚠
- p.Lys658Arg Single submitter ⚠
- p.Lys728Gln Single submitter Developmental disorder ⚠
- p.Lys777Arg Single submitter ⚠
- p.Lys788Thr Single submitter ⚠
- p.Lys84Arg Single submitter ⚠
- p.Lys852del Single submitter
- p.Lys864Arg Single submitter ⚠
- p.Lys864Ile Single submitter ⚠
- p.Lys914Asn Single submitter ⚠
- p.Met1019Ile Single submitter ⚠
- p.Met1019Thr Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Met1080Val Single submitter ⚠
- p.Met1088Val Single submitter ⚠
- p.Met321Ile Single submitter ⚠
- p.Met321Leu Single submitter ⚠
- p.Met347Leu Single submitter ⚠
- p.Met533Ile Single submitter ⚠
- p.Met722Thr Single submitter ⚠
- p.Met949Leu Single submitter Inborn genetic diseases ⚠
- p.Phe143Leu Single submitter ⚠
- p.Phe41Leu Single submitter ⚠
- p.Phe741Cys Single submitter ⚠
- p.Phe741Leu Single submitter ⚠
- p.Phe770Leu Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Phe897Leu Single submitter ⚠
- p.Phe897Val Single submitter ⚠
- p.Phe93Leu Single submitter ⚠
- p.Pro1011Ser Single submitter ⚠
- p.Pro1060Ala Single submitter Inborn genetic diseases ⚠
- p.Pro110Arg Single submitter ⚠
- p.Pro110Ser Single submitter ADNP-related disorder ⚠
- p.Pro131Ser Single submitter ⚠
- p.Pro154del Single submitter
- p.Pro263His Single submitter ADNP-related disorder ⚠
- p.Pro275Leu Single submitter Inborn genetic diseases ⚠
- p.Pro275Thr Single submitter Inborn genetic diseases ⚠
- p.Pro436Thr Single submitter ⚠
- p.Pro588del Single submitter
- p.Pro590Ala Single submitter ⚠
- p.Pro590Ser Single submitter ⚠
- p.Pro591Gln Single submitter ⚠
- p.Pro5His Single submitter ⚠
- p.Pro5Leu Single submitter ⚠
- p.Pro604Ser Single submitter ⚠
- p.Pro609Thr Single submitter ⚠
- p.Pro710Arg Single submitter Inborn genetic diseases ⚠
- p.Pro710Leu Single submitter ⚠
- p.Pro725Leu Single submitter ⚠
- p.Pro749Leu Single submitter Inborn genetic diseases ⚠
- p.Pro892Ser Single submitter ⚠
- p.Pro901Ser Single submitter ⚠
- p.Pro908Leu Single submitter ⚠
- p.Pro908Thr Single submitter ⚠
- p.Pro917Ala Single submitter ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder ⚠
- p.Pro971Ser Single submitter Inborn genetic diseases ⚠
- p.Ser1008Gly Single submitter ⚠
- p.Ser1009Gly Single submitter ⚠
- p.Ser1041Phe Single submitter ⚠
- p.Ser1067Ile Single submitter ⚠
- p.Ser1098Asn Single submitter ⚠
- p.Ser1098Gly Single submitter ⚠
- p.Ser134Arg Single submitter ⚠
- p.Ser159= Single submitter
- p.Ser220Asn Single submitter ⚠
- p.Ser232Phe Single submitter ⚠
- p.Ser24Arg Single submitter ⚠