NLGN3 — 232 ClinVar variants
All ClinVar germline NLGN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →
5 Pathogenic · 8 Likely pathogenic · 5 Conflicting · 3 Benign · 5 Benign/Likely benign · 38 Likely benign · 168 Uncertain significance
Full NLGN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 146
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 2
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
NLGN3 p.Arg660Cys
Likely pathogenic
Single submitter
X-linked complex neurodevelopmental disorder
-
NLGN3 p.Leu741Arg
Likely pathogenic
Single submitter
autism, susceptibility to, X-linked 1
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
NLGN3 p.Arg4Trp
Conflicting
Single submitter
cone-rod dystrophy
Predictors lean, ClinVar uncertain 118
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NLGN3 p.Arg748Gln Uncertain significance Multiple submitters
-
NLGN3 p.Arg785Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NLGN3 p.Arg785His
Uncertain significance
Multiple submitters
NLGN3-related disorder
-
NLGN3 p.Asp492Asn
Uncertain significance
Multiple submitters
NLGN3-related disorder
-
NLGN3 p.Leu31Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NLGN3 p.Leu477Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NLGN3 p.Leu721Phe
Uncertain significance
Multiple submitters
X-linked complex neurodevelopmental disorder
-
NLGN3 p.Thr783Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
NLGN3 p.Val346Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- NLGN3 p.Ala225Thr Uncertain significance Single submitter
-
NLGN3 p.Ala252Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Ala32Thr Uncertain significance Single submitter
-
NLGN3 p.Ala41Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NLGN3 p.Ala505Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Ala54Thr Uncertain significance Single submitter
- NLGN3 p.Ala618Val Uncertain significance Single submitter
-
NLGN3 p.Ala673Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Ala693Thr Uncertain significance Single submitter
- NLGN3 p.Ala727Thr Uncertain significance Single submitter
- NLGN3 p.Ala76Thr Uncertain significance Single submitter
-
NLGN3 p.Ala831Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NLGN3 p.Ala832Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Arg238Gln Uncertain significance Single submitter
- NLGN3 p.Arg266Cys Uncertain significance Single submitter
- NLGN3 p.Arg280His Uncertain significance Single submitter
- NLGN3 p.Arg281Trp Uncertain significance Single submitter
- NLGN3 p.Arg369His Uncertain significance Single submitter
- NLGN3 p.Arg451Gln Uncertain significance Single submitter
- NLGN3 p.Arg464Cys Uncertain significance Single submitter
- NLGN3 p.Arg470Cys Uncertain significance Single submitter
- NLGN3 p.Arg496His Uncertain significance Single submitter
-
NLGN3 p.Arg55Gly
Uncertain significance
Single submitter
intellectual disability
-
NLGN3 p.Arg587Cys
Uncertain significance
Single submitter
autism, susceptibility to, X-linked 1
-
NLGN3 p.Arg587His
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Arg702Cys Uncertain significance Single submitter
- NLGN3 p.Arg732Cys Uncertain significance Single submitter
- NLGN3 p.Arg736Trp Uncertain significance Single submitter
- NLGN3 p.Arg742Gln Uncertain significance Single submitter
- NLGN3 p.Arg748Leu Uncertain significance Single submitter
-
NLGN3 p.Arg797Trp
Uncertain significance
Single submitter
autism spectrum disorder
- NLGN3 p.Arg83Cys Uncertain significance Single submitter
- NLGN3 p.Asn229His Uncertain significance Single submitter
- NLGN3 p.Asn255Ile Uncertain significance Single submitter
-
NLGN3 p.Asn663Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Asn680Asp Uncertain significance Single submitter
- NLGN3 p.Asn828Asp Uncertain significance Single submitter
-
NLGN3 p.Asp525Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Asp67Gly Uncertain significance Single submitter
-
NLGN3 p.Asp690His
Uncertain significance
Single submitter
autism, susceptibility to, X-linked 1
- NLGN3 p.Cys351Tyr Uncertain significance Single submitter
-
NLGN3 p.Glu139Lys
Uncertain significance
Single submitter
autism, susceptibility to, X-linked 1
- NLGN3 p.Glu270Lys Uncertain significance Single submitter
-
NLGN3 p.Glu739Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NLGN3 p.Glu774Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NLGN3 p.Glu81Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NLGN3 p.Gly175Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NLGN3 p.Gly209Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Gly315Ser Uncertain significance Single submitter
- NLGN3 p.Gly49Glu Uncertain significance Single submitter
- NLGN3 p.Gly685Ala Uncertain significance Single submitter
- NLGN3 p.Gly71Glu Uncertain significance Single submitter
- NLGN3 p.Gly833Ala Uncertain significance Single submitter
- NLGN3 p.His47Tyr Uncertain significance Single submitter
- NLGN3 p.His494Arg Uncertain significance Single submitter
-
NLGN3 p.His781Arg
Uncertain significance
Single submitter
autism, susceptibility to, X-linked 1
- NLGN3 p.His781Asn Uncertain significance Single submitter
- NLGN3 p.Ile206Val Uncertain significance Single submitter
- NLGN3 p.Ile262Thr Uncertain significance Single submitter
- NLGN3 p.Ile62Val Uncertain significance Single submitter
- NLGN3 p.Ile674Thr Uncertain significance Single submitter
- NLGN3 p.Ile79Met Uncertain significance Single submitter
- NLGN3 p.Ile803Phe Uncertain significance Single submitter
-
NLGN3 p.Leu24Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
NLGN3 p.Leu390Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Met218Leu Uncertain significance Single submitter
-
NLGN3 p.Met457Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
NLGN3 p.Pro103Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Pro149Ser Uncertain significance Single submitter
- NLGN3 p.Pro528Arg Uncertain significance Single submitter
- NLGN3 p.Pro570Leu Uncertain significance Single submitter
- NLGN3 p.Pro573Leu Uncertain significance Single submitter
- NLGN3 p.Pro57Arg Uncertain significance Single submitter
-
NLGN3 p.Pro57Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Pro662Leu Uncertain significance Single submitter
- NLGN3 p.Pro676Leu Uncertain significance Single submitter
- NLGN3 p.Pro701Ala Uncertain significance Single submitter
- NLGN3 p.Pro7Leu Uncertain significance Single submitter
- NLGN3 p.Pro86His Uncertain significance Single submitter
- NLGN3 p.Ser13Asn Uncertain significance Single submitter
-
NLGN3 p.Ser269Asn
Uncertain significance
Single submitter
autism, susceptibility to, X-linked 1
-
NLGN3 p.Ser320Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NLGN3 p.Ser36Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Ser60Gly Uncertain significance Single submitter
- NLGN3 p.Ser9Leu Uncertain significance Single submitter
- NLGN3 p.Thr124Pro Uncertain significance Single submitter
- NLGN3 p.Thr298Met Uncertain significance Single submitter
-
NLGN3 p.Thr562Ile
Uncertain significance
Single submitter
autism, susceptibility to, X-linked 1
-
NLGN3 p.Thr659Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
NLGN3 p.Thr795Asn
Uncertain significance
Single submitter
intellectual disability
-
NLGN3 p.Thr812Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Thr837Ile Uncertain significance Single submitter
- NLGN3 p.Trp593Ser Uncertain significance Single submitter
- NLGN3 p.Tyr147Cys Uncertain significance Single submitter
-
NLGN3 p.Tyr205Cys
Uncertain significance
Single submitter
autism, susceptibility to, X-linked 1
-
NLGN3 p.Tyr458Phe
Uncertain significance
Single submitter
X-linked complex neurodevelopmental disorder
- NLGN3 p.Val130Ile Uncertain significance Single submitter
-
NLGN3 p.Val232Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Val239Ile Uncertain significance Single submitter
-
NLGN3 p.Val268Met
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Val418Met Uncertain significance Single submitter
- NLGN3 p.Val484Ala Uncertain significance Single submitter
-
NLGN3 p.Val530Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Val536Leu Uncertain significance Single submitter
- NLGN3 p.Val647Ala Uncertain significance Single submitter
- NLGN3 p.Val647Gly Uncertain significance Single submitter
-
NLGN3 p.Ile272Phe
Uncertain significance
No assertion criteria
NLGN3-related disorder
-
NLGN3 p.Leu85Val
Uncertain significance
No assertion criteria
NLGN3-related disorder
-
NLGN3 p.Met203Ile
Uncertain significance
No assertion criteria
NLGN3-related disorder
Predictors split 25
The independent predictors disagree with each other — read with care.
-
NLGN3 p.Arg847Gln
Uncertain significance
Multiple submitters
NLGN3-related disorder
-
NLGN3 p.Ala462Thr
Uncertain significance
Single submitter
autism, susceptibility to, X-linked 1
- NLGN3 p.Arg280Cys Uncertain significance Single submitter
- NLGN3 p.Arg470His Uncertain significance Single submitter
- NLGN3 p.Arg737Cys Uncertain significance Single submitter
- NLGN3 p.Arg798His Uncertain significance Single submitter
- NLGN3 p.Asp386Glu Uncertain significance Single submitter
- NLGN3 p.Gln576Lys Uncertain significance Single submitter
- NLGN3 p.Glu362Gly Uncertain significance Single submitter
-
NLGN3 p.Gly276Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Gly838Arg Uncertain significance Single submitter
- NLGN3 p.His630Gln Uncertain significance Single submitter
- NLGN3 p.Ile223Thr Uncertain significance Single submitter
- NLGN3 p.Leu477Val Uncertain significance Single submitter
- NLGN3 p.Lys178Asn Uncertain significance Single submitter
- NLGN3 p.Lys733Asn Uncertain significance Single submitter
- NLGN3 p.Met118Thr Uncertain significance Single submitter
- NLGN3 p.Pro104Arg Uncertain significance Single submitter
- NLGN3 p.Pro201Thr Uncertain significance Single submitter
- NLGN3 p.Pro528Thr Uncertain significance Single submitter
-
NLGN3 p.Pro77Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Ser642Phe Uncertain significance Single submitter
-
NLGN3 p.Val328Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NLGN3 p.Val372Met
Uncertain significance
Single submitter
Inborn genetic diseases
- NLGN3 p.Pro800Leu Uncertain significance No assertion criteria
All NLGN3 variants
Pathogenic 5
- p.Leu58fs Single submitter
- p.Pro534Ser Single submitter Autistic behavior
- p.Trp122Ter Single submitter hypogonadotropic hypogonadism
- p.Val72fs Single submitter Inborn genetic diseases
- p.Val204Ala No assertion criteria autism, susceptibility to, X-linked 1
Likely pathogenic 8
- c.577+1G>A Single submitter Inborn genetic diseases
- p.Arg617Trp Single submitter intellectual disability
- p.Arg660Cys Single submitter X-linked complex neurodevelopmental disorder ⚠
- p.Cys141fs Single submitter autism, susceptibility to, X-linked 1
- p.Gly208Arg Single submitter autism, susceptibility to, X-linked 1
- p.Leu741Arg Single submitter autism, susceptibility to, X-linked 1 ⚠
- c.913+1G>A No assertion criteria autism, susceptibility to, X-linked 1
- p.Met558Val No assertion criteria autism, susceptibility to, X-linked 1
Conflicting classifications of pathogenicity 5
Benign 3
Benign/Likely benign 5
- c.913+11C>G Multiple submitters autism, susceptibility to, X-linked 1
- p.Gly198= Multiple submitters Inborn genetic diseases
- p.Ser269= Multiple submitters Inborn genetic diseases
- p.Thr652Ala Multiple submitters Inborn genetic diseases
- p.Tyr678= Multiple submitters Inborn genetic diseases
Likely benign 38
- p.Asn138= Multiple submitters Inborn genetic diseases
- p.Asn138Ser Multiple submitters Inborn genetic diseases
- p.Ile606= Multiple submitters Inborn genetic diseases
- p.Thr17= Multiple submitters Inborn genetic diseases
- c.1704-9G>A Single submitter
- c.457+12G>A Single submitter
- c.517+17C>A Single submitter
- c.517+18G>C Single submitter
- c.577+9G>A Single submitter
- c.728-4_728-3dup Single submitter
- p.Ala32= Single submitter Inborn genetic diseases
- p.Ala39= Single submitter
- p.Ala683Val Single submitter Inborn genetic diseases
- p.Asn688= Single submitter
- p.Asn722= Single submitter
- p.Asp690= Single submitter
- p.Gln363= Single submitter Inborn genetic diseases
- p.Gly214= Single submitter Inborn genetic diseases
- p.Gly416= Single submitter
- p.His371= Single submitter
- p.Leu411= Single submitter Inborn genetic diseases
- p.Lys566= Single submitter
- p.Phe275= Single submitter Inborn genetic diseases
- p.Pro120= Single submitter
- p.Pro149= Single submitter
- p.Pro16= Single submitter Inborn genetic diseases
- p.Pro650= Single submitter Inborn genetic diseases
- p.Pro7= Single submitter
- p.Pro740= Single submitter Inborn genetic diseases
- p.Pro779= Single submitter Inborn genetic diseases
- p.Ser287= Single submitter Inborn genetic diseases
- p.Tyr370= Single submitter Inborn genetic diseases
- p.Tyr504= Single submitter
- p.Tyr74= Single submitter Inborn genetic diseases
- p.Tyr792= Single submitter
- p.Val232= Single submitter Inborn genetic diseases
- p.Val714= Single submitter
- p.Lys82Gln No assertion criteria intellectual disability
Uncertain significance 168
- p.Arg748Gln Multiple submitters ⚠
- p.Arg785Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg785His Multiple submitters NLGN3-related disorder ⚠
- p.Arg847Gln Multiple submitters NLGN3-related disorder ⚠
- p.Asp492Asn Multiple submitters NLGN3-related disorder ⚠
- p.Leu31Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu477Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu721Phe Multiple submitters X-linked complex neurodevelopmental disorder ⚠
- p.Thr783Met Multiple submitters Inborn genetic diseases ⚠
- p.Val346Met Multiple submitters Inborn genetic diseases ⚠
- c.1703+5G>T Single submitter
- c.457+3G>A Single submitter
- c.-5G>A Single submitter Inborn genetic diseases
- c.*8T>C Single submitter
- p.Ala225Thr Single submitter ⚠
- p.Ala252Ser Single submitter Inborn genetic diseases ⚠
- p.Ala32Thr Single submitter ⚠
- p.Ala41Glu Single submitter Inborn genetic diseases ⚠
- p.Ala462Thr Single submitter autism, susceptibility to, X-linked 1 ⚠
- p.Ala491= Single submitter
- p.Ala505Thr Single submitter Inborn genetic diseases ⚠
- p.Ala54Thr Single submitter ⚠
- p.Ala618Val Single submitter ⚠
- p.Ala673Asp Single submitter Inborn genetic diseases ⚠
- p.Ala693Thr Single submitter ⚠
- p.Ala727Thr Single submitter ⚠
- p.Ala76Thr Single submitter ⚠
- p.Ala831Val Single submitter Inborn genetic diseases ⚠
- p.Ala832Thr Single submitter Inborn genetic diseases ⚠
- p.Arg162Ter Single submitter Inborn genetic diseases
- p.Arg195Trp Single submitter
- p.Arg238Gln Single submitter ⚠
- p.Arg266Cys Single submitter ⚠
- p.Arg280Cys Single submitter ⚠
- p.Arg280His Single submitter ⚠
- p.Arg281Trp Single submitter ⚠
- p.Arg369His Single submitter ⚠
- p.Arg451Gln Single submitter ⚠
- p.Arg464Cys Single submitter ⚠
- p.Arg470Cys Single submitter ⚠
- p.Arg470His Single submitter ⚠
- p.Arg496His Single submitter ⚠
- p.Arg55Gly Single submitter intellectual disability ⚠
- p.Arg55Ter Single submitter autism, susceptibility to, X-linked 1
- p.Arg587Cys Single submitter autism, susceptibility to, X-linked 1 ⚠
- p.Arg587His Single submitter Inborn genetic diseases ⚠
- p.Arg671Trp Single submitter
- p.Arg702Cys Single submitter ⚠
- p.Arg732Cys Single submitter ⚠
- p.Arg736Trp Single submitter ⚠
- p.Arg737Cys Single submitter ⚠
- p.Arg742Gln Single submitter ⚠
- p.Arg748Leu Single submitter ⚠
- p.Arg797Trp Single submitter autism spectrum disorder ⚠
- p.Arg798His Single submitter ⚠
- p.Arg83Cys Single submitter ⚠
- p.Asn229His Single submitter ⚠
- p.Asn236Ser Single submitter autism, susceptibility to, X-linked 1
- p.Asn255Ile Single submitter ⚠
- p.Asn663Ser Single submitter Inborn genetic diseases ⚠
- p.Asn680Asp Single submitter ⚠
- p.Asn828Asp Single submitter ⚠
- p.Asp220fs Single submitter
- p.Asp386Glu Single submitter ⚠
- p.Asp525Tyr Single submitter Inborn genetic diseases ⚠
- p.Asp67Gly Single submitter ⚠
- p.Asp690His Single submitter autism, susceptibility to, X-linked 1 ⚠
- p.Cys351Tyr Single submitter ⚠
- p.Cys544Ter Single submitter
- p.Gln576Lys Single submitter ⚠
- p.Glu139Lys Single submitter autism, susceptibility to, X-linked 1 ⚠
- p.Glu270Lys Single submitter ⚠
- p.Glu362Gly Single submitter ⚠
- p.Glu392= Single submitter
- p.Glu739Lys Single submitter Inborn genetic diseases ⚠
- p.Glu774Lys Single submitter Inborn genetic diseases ⚠
- p.Glu81Lys Single submitter Inborn genetic diseases ⚠
- p.Gly175Ser Single submitter Inborn genetic diseases ⚠
- p.Gly209Ser Single submitter Inborn genetic diseases ⚠
- p.Gly276Arg Single submitter Inborn genetic diseases ⚠
- p.Gly290= Single submitter
- p.Gly315Ser Single submitter ⚠
- p.Gly49Glu Single submitter ⚠
- p.Gly685Ala Single submitter ⚠
- p.Gly71Glu Single submitter ⚠
- p.Gly833Ala Single submitter ⚠
- p.Gly838Arg Single submitter ⚠
- p.His47Tyr Single submitter ⚠
- p.His494Arg Single submitter ⚠
- p.His630Gln Single submitter ⚠
- p.His781Arg Single submitter autism, susceptibility to, X-linked 1 ⚠
- p.His781Asn Single submitter ⚠
- p.Ile206Val Single submitter ⚠
- p.Ile223Thr Single submitter ⚠
- p.Ile262Thr Single submitter ⚠
- p.Ile62Val Single submitter ⚠
- p.Ile674Thr Single submitter ⚠
- p.Ile79Met Single submitter ⚠
- p.Ile803Phe Single submitter ⚠
- p.Leu24Phe Single submitter Inborn genetic diseases ⚠
- p.Leu390Phe Single submitter Inborn genetic diseases ⚠
- p.Leu477Val Single submitter ⚠
- p.Leu85= Single submitter
- p.Lys178Asn Single submitter ⚠
- p.Lys572= Single submitter
- p.Lys733Asn Single submitter ⚠
- p.Met118Thr Single submitter ⚠
- p.Met1Arg Single submitter
- p.Met218Leu Single submitter ⚠
- p.Met457Ile Single submitter Inborn genetic diseases ⚠
- p.Pro103Thr Single submitter Inborn genetic diseases ⚠
- p.Pro104Arg Single submitter ⚠
- p.Pro115Leu Single submitter Inborn genetic diseases
- p.Pro149Ser Single submitter ⚠
- p.Pro201Thr Single submitter ⚠
- p.Pro327= Single submitter
- p.Pro528Arg Single submitter ⚠
- p.Pro528Thr Single submitter ⚠
- p.Pro570Leu Single submitter ⚠
- p.Pro573Leu Single submitter ⚠
- p.Pro57Arg Single submitter ⚠
- p.Pro57Leu Single submitter Inborn genetic diseases ⚠
- p.Pro662Leu Single submitter ⚠
- p.Pro676Leu Single submitter ⚠
- p.Pro701Ala Single submitter ⚠
- p.Pro77Ser Single submitter Inborn genetic diseases ⚠
- p.Pro780del Single submitter
- p.Pro7Leu Single submitter ⚠
- p.Pro86His Single submitter ⚠
- p.Ser13Asn Single submitter ⚠
- p.Ser210_Tyr211insTer Single submitter
- p.Ser269Asn Single submitter autism, susceptibility to, X-linked 1 ⚠
- p.Ser320Arg Single submitter Inborn genetic diseases ⚠
- p.Ser36Gly Single submitter Inborn genetic diseases ⚠
- p.Ser60Gly Single submitter ⚠
- p.Ser642Phe Single submitter ⚠
- p.Ser9Leu Single submitter ⚠
- p.Thr124Pro Single submitter ⚠
- p.Thr298Met Single submitter ⚠
- p.Thr562Ile Single submitter autism, susceptibility to, X-linked 1 ⚠
- p.Thr659Asn Single submitter Inborn genetic diseases ⚠
- p.Thr795Asn Single submitter intellectual disability ⚠
- p.Thr812Ser Single submitter Inborn genetic diseases ⚠
- p.Thr837Ile Single submitter ⚠
- p.Trp593Ser Single submitter ⚠
- p.Trp687fs Single submitter
- p.Tyr147Cys Single submitter ⚠
- p.Tyr205Cys Single submitter autism, susceptibility to, X-linked 1 ⚠
- p.Tyr458Phe Single submitter X-linked complex neurodevelopmental disorder ⚠
- p.Tyr827Ter Single submitter
- p.Val114= Single submitter
- p.Val130Ile Single submitter ⚠
- p.Val204Phe Single submitter
- p.Val232Ile Single submitter Inborn genetic diseases ⚠
- p.Val239Ile Single submitter ⚠
- p.Val268Met Single submitter Inborn genetic diseases ⚠
- p.Val328Gly Single submitter Inborn genetic diseases ⚠
- p.Val372Met Single submitter Inborn genetic diseases ⚠
- p.Val418Met Single submitter ⚠
- p.Val484Ala Single submitter ⚠
- p.Val530Ile Single submitter Inborn genetic diseases ⚠
- p.Val536Leu Single submitter ⚠
- p.Val647Ala Single submitter ⚠
- p.Val647Gly Single submitter ⚠
- p.Ile272Phe No assertion criteria NLGN3-related disorder ⚠
- p.Leu85Val No assertion criteria NLGN3-related disorder ⚠
- p.Met203Ile No assertion criteria NLGN3-related disorder ⚠
- p.Pro800Leu No assertion criteria ⚠