NLGN1 — 130 ClinVar variants
All ClinVar germline NLGN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.
1 Conflicting · 8 Benign · 23 Likely benign · 98 Uncertain significance
Full NLGN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactionsAll NLGN1 variants
Conflicting classifications of pathogenicity 1
- p.Arg93His Single submitter Inborn genetic diseases
Benign 8
Likely benign 23
- c.554-7382C>T Single submitter
- p.Ala493= Single submitter Inborn genetic diseases
- p.Ala777Thr Single submitter Inborn genetic diseases
- p.Arg23Trp Single submitter Inborn genetic diseases
- p.Asp387= Single submitter
- p.Asp741Glu Single submitter Inborn genetic diseases
- p.Asp791= Single submitter
- p.Glu68Gln Single submitter Inborn genetic diseases
- p.Leu235= Single submitter
- p.Leu707= Single submitter
- p.Pro28Ala Single submitter Inborn genetic diseases
- p.Pro833Ser Single submitter Inborn genetic diseases
- p.Ser422Asn Single submitter Inborn genetic diseases
- p.Ser644Ala Single submitter Inborn genetic diseases
- p.Thr503= Single submitter
- p.Thr667Lys Single submitter Inborn genetic diseases
- p.Tyr445His Single submitter Inborn genetic diseases
- p.Val517Ala Single submitter Inborn genetic diseases
- p.Val83Ile Single submitter Inborn genetic diseases
- c.1709+7A>G No assertion criteria NLGN1-related disorder
- p.Glu349= No assertion criteria NLGN1-related disorder
- p.Leu37= No assertion criteria NLGN1-related disorder
- p.Pro161= No assertion criteria NLGN1-related disorder
Uncertain significance 98
- p.Gln675Arg Multiple submitters Inborn genetic diseases
- p.Gly810Arg Multiple submitters Inborn genetic diseases
- p.Val325Ile Multiple submitters Inborn genetic diseases
- c.493+5G>A Single submitter autism, susceptibility to, 20
- c.554-7360A>G Single submitter autism, susceptibility to, 20
- c.554-7372_554-7369del Single submitter
- p.Ala18Glu Single submitter Inborn genetic diseases
- p.Ala244Thr Single submitter Inborn genetic diseases
- p.Ala27Thr Single submitter Inborn genetic diseases
- p.Ala330Glu Single submitter Inborn genetic diseases
- p.Ala375Thr Single submitter Inborn genetic diseases
- p.Ala704Thr Single submitter Inborn genetic diseases
- p.Ala87Ser Single submitter Inborn genetic diseases
- p.Arg187Trp Single submitter Inborn genetic diseases
- p.Arg23Gln Single submitter Inborn genetic diseases
- p.Arg300His Single submitter Inborn genetic diseases
- p.Arg736Cys Single submitter Inborn genetic diseases
- p.Arg736Gly Single submitter Inborn genetic diseases
- p.Arg736Leu Single submitter
- p.Arg775Gln Single submitter Inborn genetic diseases
- p.Arg842Gly Single submitter
- p.Arg93Cys Single submitter Inborn genetic diseases
- p.Asn343Ser Single submitter Inborn genetic diseases
- p.Asn418Ser Single submitter Inborn genetic diseases
- p.Asn441Asp Single submitter
- p.Asn588Ser Single submitter Inborn genetic diseases
- p.Asn70Ser Single submitter Inborn genetic diseases
- p.Asn71Tyr Single submitter Inborn genetic diseases
- p.Asn740Ser Single submitter Inborn genetic diseases
- p.Asp148Gly Single submitter Inborn genetic diseases
- p.Asp383Ala Single submitter Inborn genetic diseases
- p.Asp421Tyr Single submitter Inborn genetic diseases
- p.Asp424Asn Single submitter Inborn genetic diseases
- p.Asp440Asn Single submitter
- p.Asp450Gly Single submitter Inborn genetic diseases
- p.Asp50Gly Single submitter Inborn genetic diseases
- p.Cys512Ter Single submitter
- p.Cys778Phe Single submitter
- p.Gln355Arg Single submitter Inborn genetic diseases
- p.Gln365His Single submitter Inborn genetic diseases
- p.Gln46Ter Single submitter autism, susceptibility to, 20
- p.Glu361Ter Single submitter autism, susceptibility to, 20
- p.Glu99Gln Single submitter Inborn genetic diseases
- p.Gly236Ser Single submitter
- p.Gly24Glu Single submitter Inborn genetic diseases
- p.Gly279Ter Single submitter NLGN1-related disorder
- p.Gly341Asp Single submitter Inborn genetic diseases
- p.Gly41Ser Single submitter Inborn genetic diseases
- p.Gly448Ser Single submitter Inborn genetic diseases
- p.His510Leu Single submitter Inborn genetic diseases
- p.His510Tyr Single submitter Inborn genetic diseases
- p.His815Arg Single submitter Inborn genetic diseases
- p.His832Asn Single submitter Inborn genetic diseases
- p.Ile121Val Single submitter Inborn genetic diseases
- p.Ile199Val Single submitter Inborn genetic diseases
- p.Ile255Leu Single submitter Inborn genetic diseases
- p.Ile265Val Single submitter Inborn genetic diseases
- p.Ile380Thr Single submitter Inborn genetic diseases
- p.Ile801Val Single submitter Inborn genetic diseases
- p.Leu131Ile Single submitter Inborn genetic diseases
- p.Leu627Val Single submitter
- p.Leu74Trp Single submitter Inborn genetic diseases
- p.Lys611Asn Single submitter Inborn genetic diseases
- p.Met751Val Single submitter Inborn genetic diseases
- p.Phe80Tyr Single submitter Inborn genetic diseases
- p.Pro100Leu Single submitter Inborn genetic diseases
- p.Pro100Ser Single submitter
- p.Pro103Ser Single submitter Inborn genetic diseases
- p.Pro577Arg Single submitter Inborn genetic diseases
- p.Pro587Leu Single submitter Inborn genetic diseases
- p.Pro678Ala Single submitter Inborn genetic diseases
- p.Pro790Ser Single submitter Inborn genetic diseases
- p.Pro88Ser Single submitter
- p.Pro97Arg Single submitter intellectual disability, X-linked 102
- p.Ser651Ala Single submitter Inborn genetic diseases
- p.Ter844= Single submitter autism, susceptibility to, 20
- p.Thr580Met Single submitter Inborn genetic diseases
- p.Thr694Ala Single submitter
- p.Thr758Ala Single submitter Inborn genetic diseases
- p.Thr7Ala Single submitter
- p.Thr827Ile Single submitter Inborn genetic diseases
- p.Tyr230Asn Single submitter Inborn genetic diseases
- p.Tyr249His Single submitter Inborn genetic diseases
- p.Tyr359Cys Single submitter Inborn genetic diseases
- p.Tyr401Cys Single submitter autism, susceptibility to, 20
- p.Val228Ala Single submitter
- p.Val348Gly Single submitter Inborn genetic diseases
- p.Val363Phe Single submitter Inborn genetic diseases
- p.Val384Leu Single submitter Inborn genetic diseases
- p.Val486Met Single submitter Inborn genetic diseases
- p.Val553Met Single submitter Inborn genetic diseases
- p.Val576Asp Single submitter Inborn genetic diseases
- p.Asn70Asp No assertion criteria NLGN1-related disorder
- p.Gly201Asp No assertion criteria autism, susceptibility to, 20
- p.Leu25Ter No assertion criteria
- p.Lys568Glu No assertion criteria NLGN1-related disorder
- p.Pro545Leu No assertion criteria autism, susceptibility to, 20
- p.Trp260Ter No assertion criteria NLGN1-related disorder