NEDD4 — 209 ClinVar variants
All ClinVar germline NEDD4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 143 flagged for review →
13 Benign · 2 Benign/Likely benign · 28 Likely benign · 166 Uncertain significance
Full NEDD4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 143
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 lean, ClinVar uncertain 128
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- NEDD4 p.Arg548His Uncertain significance Multiple submitters
- NEDD4 c.291+7866C>T Uncertain significance Single submitter
- NEDD4 c.291+7869T>G Uncertain significance Single submitter
- NEDD4 c.291+7950G>A Uncertain significance Single submitter
- NEDD4 c.291+7993C>T Uncertain significance Single submitter
- NEDD4 c.291+8025A>G Uncertain significance Single submitter
- NEDD4 c.291+8031T>C Uncertain significance Single submitter
- NEDD4 c.291+8083C>T Uncertain significance Single submitter
- NEDD4 c.291+8094A>G Uncertain significance Single submitter
- NEDD4 c.291+8098G>C Uncertain significance Single submitter
- NEDD4 c.291+8124A>C Uncertain significance Single submitter
- NEDD4 c.291+8165C>G Uncertain significance Single submitter
- NEDD4 c.291+8173A>C Uncertain significance Single submitter
- NEDD4 c.291+8221A>G Uncertain significance Single submitter
- NEDD4 c.291+8226G>A Uncertain significance Single submitter
- NEDD4 c.291+8260G>A Uncertain significance Single submitter
- NEDD4 c.291+8269G>T Uncertain significance Single submitter
- NEDD4 c.291+8277T>A Uncertain significance Single submitter
- NEDD4 c.291+8314G>C Uncertain significance Single submitter
- NEDD4 c.291+8340A>G Uncertain significance Single submitter
- NEDD4 c.291+8346G>A Uncertain significance Single submitter
- NEDD4 c.291+8355T>C Uncertain significance Single submitter
- NEDD4 c.291+8374G>A Uncertain significance Single submitter
- NEDD4 c.291+8403A>C Uncertain significance Single submitter
- NEDD4 c.291+8436T>C Uncertain significance Single submitter
- NEDD4 c.291+8470G>A Uncertain significance Single submitter
- NEDD4 c.291+8470G>T Uncertain significance Single submitter
- NEDD4 c.291+8481C>A Uncertain significance Single submitter
- NEDD4 c.291+8514G>C Uncertain significance Single submitter
- NEDD4 c.291+8539A>T Uncertain significance Single submitter
- NEDD4 c.291+8586A>T Uncertain significance Single submitter
- NEDD4 c.291+8587T>A Uncertain significance Single submitter
- NEDD4 c.291+8598C>T Uncertain significance Single submitter
- NEDD4 c.291+8605C>T Uncertain significance Single submitter
- NEDD4 c.291+8632C>T Uncertain significance Single submitter
- NEDD4 c.291+8638C>T Uncertain significance Single submitter
- NEDD4 c.291+8647C>T Uncertain significance Single submitter
- NEDD4 c.291+8658A>T Uncertain significance Single submitter
- NEDD4 c.291+8686G>T Uncertain significance Single submitter
- NEDD4 c.291+8713T>C Uncertain significance Single submitter
- NEDD4 c.291+8715A>G Uncertain significance Single submitter
- NEDD4 c.291+8722C>T Uncertain significance Single submitter
- NEDD4 c.291+8734C>T Uncertain significance Single submitter
- NEDD4 c.291+8785A>G Uncertain significance Single submitter
- NEDD4 c.291+8820G>A Uncertain significance Single submitter
- NEDD4 c.291+8839G>A Uncertain significance Single submitter
- NEDD4 c.291+8844C>T Uncertain significance Single submitter
- NEDD4 c.291+8884C>G Uncertain significance Single submitter
- NEDD4 c.291+8884C>T Uncertain significance Single submitter
- NEDD4 c.291+8928G>A Uncertain significance Single submitter
- NEDD4 c.291+8938G>C Uncertain significance Single submitter
- NEDD4 c.291+8938G>T Uncertain significance Single submitter
- NEDD4 c.291+8979G>C Uncertain significance Single submitter
- NEDD4 c.291+8994A>G Uncertain significance Single submitter
- NEDD4 c.291+9045G>A Uncertain significance Single submitter
- NEDD4 c.291+9051A>G Uncertain significance Single submitter
- NEDD4 c.291+9073C>A Uncertain significance Single submitter
- NEDD4 c.291+9111A>G Uncertain significance Single submitter
- NEDD4 c.291+9154A>G Uncertain significance Single submitter
- NEDD4 c.291+9223C>G Uncertain significance Single submitter
- NEDD4 c.291+9285G>A Uncertain significance Single submitter
- NEDD4 c.291+9286G>A Uncertain significance Single submitter
- NEDD4 c.291+9331A>G Uncertain significance Single submitter
- NEDD4 p.Ala550Glu Uncertain significance Single submitter
- NEDD4 p.Ala589Gly Uncertain significance Single submitter
- NEDD4 p.Ala889Val Uncertain significance Single submitter
- NEDD4 p.Arg242Cys Uncertain significance Single submitter
- NEDD4 p.Arg248Gln Uncertain significance Single submitter
- NEDD4 p.Arg430Trp Uncertain significance Single submitter
- NEDD4 p.Arg505Trp Uncertain significance Single submitter
- NEDD4 p.Arg640Pro Uncertain significance Single submitter
- NEDD4 p.Arg658Cys Uncertain significance Single submitter
- NEDD4 p.Arg740Gln Uncertain significance Single submitter
- NEDD4 p.Arg820Ile Uncertain significance Single submitter
- NEDD4 p.Arg863Gly Uncertain significance Single submitter
- NEDD4 p.Asn211Lys Uncertain significance Single submitter
- NEDD4 p.Asn211Thr Uncertain significance Single submitter
- NEDD4 p.Asn259Ser Uncertain significance Single submitter
- NEDD4 p.Asn279Lys Uncertain significance Single submitter
- NEDD4 p.Asn615His Uncertain significance Single submitter
- NEDD4 p.Asn728Lys Uncertain significance Single submitter
- NEDD4 p.Asn801His Uncertain significance Single submitter
- NEDD4 p.Asn845Ser Uncertain significance Single submitter
- NEDD4 p.Asp230Glu Uncertain significance Single submitter
- NEDD4 p.Asp230Gly Uncertain significance Single submitter
- NEDD4 p.Asp467Asn Uncertain significance Single submitter
- NEDD4 p.Gln280Glu Uncertain significance Single submitter
- NEDD4 p.Gln402Leu Uncertain significance Single submitter
- NEDD4 p.Gln410Lys Uncertain significance Single submitter
- NEDD4 p.Glu255Gly Uncertain significance Single submitter
- NEDD4 p.Glu264Gln Uncertain significance Single submitter
- NEDD4 p.Glu360Gly Uncertain significance Single submitter
- NEDD4 p.Glu507Lys Uncertain significance Single submitter
- NEDD4 p.Glu609Asp Uncertain significance Single submitter
- NEDD4 p.Glu629Lys Uncertain significance Single submitter
- NEDD4 p.Glu859Lys Uncertain significance Single submitter
- NEDD4 p.Gly196Trp Uncertain significance Single submitter
- NEDD4 p.Gly349Glu Uncertain significance Single submitter
- NEDD4 p.Gly362Glu Uncertain significance Single submitter
- NEDD4 p.Gly421Val Uncertain significance Single submitter
- NEDD4 p.Gly639Ser Uncertain significance Single submitter
- NEDD4 p.Gly846Val Uncertain significance Single submitter
- NEDD4 p.His369Arg Uncertain significance Single submitter
- NEDD4 p.Ile418Thr Uncertain significance Single submitter
- NEDD4 p.Ile440Thr Uncertain significance Single submitter
- NEDD4 p.Ile702Arg Uncertain significance Single submitter
- NEDD4 p.Leu193Pro Uncertain significance Single submitter
- NEDD4 p.Leu340Phe Uncertain significance Single submitter
- NEDD4 p.Lys546Asn Uncertain significance Single submitter
- NEDD4 p.Met276Val Uncertain significance Single submitter
- NEDD4 p.Met815Thr Uncertain significance Single submitter
- NEDD4 p.Met815Val Uncertain significance Single submitter
- NEDD4 p.Met835Val Uncertain significance Single submitter
- NEDD4 p.Phe439Val Uncertain significance Single submitter
- NEDD4 p.Phe577Leu Uncertain significance Single submitter
- NEDD4 p.Pro668Arg Uncertain significance Single submitter
- NEDD4 p.Thr207Ile Uncertain significance Single submitter
- NEDD4 p.Thr246Ile Uncertain significance Single submitter
- NEDD4 p.Thr339Ile Uncertain significance Single submitter
- NEDD4 p.Thr374Ile Uncertain significance Single submitter
- NEDD4 p.Thr387Pro Uncertain significance Single submitter
- NEDD4 p.Trp687Arg Uncertain significance Single submitter
- NEDD4 p.Tyr518Cys Uncertain significance Single submitter
- NEDD4 p.Tyr557Cys Uncertain significance Single submitter
- NEDD4 p.Val257Ile Uncertain significance Single submitter
- NEDD4 p.Val342Met Uncertain significance Single submitter
- NEDD4 p.Val588Gly Uncertain significance Single submitter
-
NEDD4 c.291+9303G>A
Uncertain significance
No assertion criteria
autism
Predictors split 15
The independent predictors disagree with each other — read with care.
- NEDD4 c.291+8617T>C Uncertain significance Single submitter
- NEDD4 p.Arg248Trp Uncertain significance Single submitter
- NEDD4 p.Arg548Cys Uncertain significance Single submitter
- NEDD4 p.Glu264Lys Uncertain significance Single submitter
- NEDD4 p.Ile737Thr Uncertain significance Single submitter
- NEDD4 p.Leu175Ser Uncertain significance Single submitter
- NEDD4 p.Phe543Leu Uncertain significance Single submitter
- NEDD4 p.Pro192Leu Uncertain significance Single submitter
- NEDD4 p.Pro194Leu Uncertain significance Single submitter
- NEDD4 p.Pro474Ser Uncertain significance Single submitter
- NEDD4 p.Thr857Ile Uncertain significance Single submitter
- NEDD4 p.Trp266Gly Uncertain significance Single submitter
- NEDD4 p.Val516Ala Uncertain significance Single submitter
- NEDD4 p.Val516Met Uncertain significance Single submitter
- NEDD4 p.Val785Leu Uncertain significance Single submitter
All NEDD4 variants
Benign 13
- c.291+7911A>G Multiple submitters
- c.291+8666G>A Multiple submitters
- c.291+8732T>A Multiple submitters
- c.291+8736C>T Multiple submitters
- c.291+9166G>C Multiple submitters
- c.291+9189T>C Multiple submitters
- c.291+9254A>G Multiple submitters
- p.Glu169Gln Multiple submitters
- p.Val785= Multiple submitters
- c.120-6del Single submitter
- c.291+8310G>A Single submitter
- c.291+9332T>C Single submitter
- p.Val412= Single submitter
Benign/Likely benign 2
- c.291+7901C>A Multiple submitters
- c.291+8368T>A Multiple submitters
Likely benign 28
- c.1484-6C>T Multiple submitters
- c.291+8022G>C Multiple submitters
- p.Lys766Arg Multiple submitters
- c.1026+9T>C Single submitter
- c.2528-3T>C Single submitter
- c.291+7895G>A Single submitter
- c.291+7941A>G Single submitter
- c.291+8009C>A Single submitter
- c.291+8099G>A Single submitter
- c.291+8110A>G Single submitter
- c.291+8452A>G Single submitter
- c.291+9061T>C Single submitter
- c.291+9121A>G Single submitter
- c.291+9175G>A Single submitter
- p.Ala27= Single submitter
- p.Arg832= Single submitter
- p.Asn470Ser Single submitter
- p.Leu651= Single submitter
- p.Phe102= Single submitter
- p.Pro287= Single submitter
- p.Pro379= Single submitter
- p.Pro875= Single submitter
- p.Thr373= Single submitter
- p.Thr380Ile Single submitter
- p.Val313Met Single submitter
- p.Val429= Single submitter
- p.Ile890Thr No assertion criteria NEDD4-related disorder
- p.Thr346Ile No assertion criteria NEDD4-related disorder
Uncertain significance 166
- p.Arg548His Multiple submitters ⚠
- c.291+7866C>T Single submitter ⚠
- c.291+7869T>G Single submitter ⚠
- c.291+7950G>A Single submitter ⚠
- c.291+7993C>T Single submitter ⚠
- c.291+8025A>G Single submitter ⚠
- c.291+8031T>C Single submitter ⚠
- c.291+8083C>T Single submitter ⚠
- c.291+8094A>G Single submitter ⚠
- c.291+8098G>C Single submitter ⚠
- c.291+8124A>C Single submitter ⚠
- c.291+8165C>G Single submitter ⚠
- c.291+8173A>C Single submitter ⚠
- c.291+8221A>G Single submitter ⚠
- c.291+8226G>A Single submitter ⚠
- c.291+8260G>A Single submitter ⚠
- c.291+8269G>T Single submitter ⚠
- c.291+8277T>A Single submitter ⚠
- c.291+8314G>C Single submitter ⚠
- c.291+8340A>G Single submitter ⚠
- c.291+8346G>A Single submitter ⚠
- c.291+8355T>C Single submitter ⚠
- c.291+8374G>A Single submitter ⚠
- c.291+8403A>C Single submitter ⚠
- c.291+8436T>C Single submitter ⚠
- c.291+8470G>A Single submitter ⚠
- c.291+8470G>T Single submitter ⚠
- c.291+8481C>A Single submitter ⚠
- c.291+8514G>C Single submitter ⚠
- c.291+8539A>T Single submitter ⚠
- c.291+8586A>T Single submitter ⚠
- c.291+8587T>A Single submitter ⚠
- c.291+8598C>T Single submitter ⚠
- c.291+8605C>T Single submitter ⚠
- c.291+8617T>C Single submitter ⚠
- c.291+8632C>T Single submitter ⚠
- c.291+8638C>T Single submitter ⚠
- c.291+8647C>T Single submitter ⚠
- c.291+8658A>T Single submitter ⚠
- c.291+8686G>T Single submitter ⚠
- c.291+8713T>C Single submitter ⚠
- c.291+8715A>G Single submitter ⚠
- c.291+8722C>T Single submitter ⚠
- c.291+8734C>T Single submitter ⚠
- c.291+8785A>G Single submitter ⚠
- c.291+8820G>A Single submitter ⚠
- c.291+8839G>A Single submitter ⚠
- c.291+8844C>T Single submitter ⚠
- c.291+8884C>G Single submitter ⚠
- c.291+8884C>T Single submitter ⚠
- c.291+8928G>A Single submitter ⚠
- c.291+8938G>C Single submitter ⚠
- c.291+8938G>T Single submitter ⚠
- c.291+8979G>C Single submitter ⚠
- c.291+8994A>G Single submitter ⚠
- c.291+9045G>A Single submitter ⚠
- c.291+9051A>G Single submitter ⚠
- c.291+9073C>A Single submitter ⚠
- c.291+9111A>G Single submitter ⚠
- c.291+9154A>G Single submitter ⚠
- c.291+9223C>G Single submitter ⚠
- c.291+9285G>A Single submitter ⚠
- c.291+9286G>A Single submitter ⚠
- c.291+9331A>G Single submitter ⚠
- p.Ala2Thr Single submitter
- p.Ala550Glu Single submitter ⚠
- p.Ala589Gly Single submitter ⚠
- p.Ala5Val Single submitter
- p.Ala889Val Single submitter ⚠
- p.Arg242Cys Single submitter ⚠
- p.Arg248Gln Single submitter ⚠
- p.Arg248Trp Single submitter ⚠
- p.Arg430Trp Single submitter ⚠
- p.Arg505Trp Single submitter ⚠
- p.Arg548Cys Single submitter ⚠
- p.Arg572Gln Single submitter
- p.Arg640Pro Single submitter ⚠
- p.Arg658Cys Single submitter ⚠
- p.Arg740Gln Single submitter ⚠
- p.Arg820Ile Single submitter ⚠
- p.Arg863Gly Single submitter ⚠
- p.Asn211Lys Single submitter ⚠
- p.Asn211Thr Single submitter ⚠
- p.Asn259Ser Single submitter ⚠
- p.Asn279Lys Single submitter ⚠
- p.Asn443Lys Single submitter
- p.Asn615His Single submitter ⚠
- p.Asn728Lys Single submitter ⚠
- p.Asn796His Single submitter
- p.Asn801His Single submitter ⚠
- p.Asn845Ser Single submitter ⚠
- p.Asp14Asn Single submitter
- p.Asp14Val Single submitter
- p.Asp230Glu Single submitter ⚠
- p.Asp230Gly Single submitter ⚠
- p.Asp467Asn Single submitter ⚠
- p.Asp486Asn Single submitter
- p.Asp784Asn Single submitter
- p.Gln280Glu Single submitter ⚠
- p.Gln402Leu Single submitter ⚠
- p.Gln410Lys Single submitter ⚠
- p.Glu13Gln Single submitter
- p.Glu15Lys Single submitter
- p.Glu255Gly Single submitter ⚠
- p.Glu264Gln Single submitter ⚠
- p.Glu264Lys Single submitter ⚠
- p.Glu360Gly Single submitter ⚠
- p.Glu507Lys Single submitter ⚠
- p.Glu609Asp Single submitter ⚠
- p.Glu629Lys Single submitter ⚠
- p.Glu859Lys Single submitter ⚠
- p.Gly196Trp Single submitter ⚠
- p.Gly349Glu Single submitter ⚠
- p.Gly362Glu Single submitter ⚠
- p.Gly421Val Single submitter ⚠
- p.Gly639Ser Single submitter ⚠
- p.Gly846Val Single submitter ⚠
- p.His369Arg Single submitter ⚠
- p.His81Arg Single submitter
- p.His85Tyr Single submitter
- p.Ile20Leu Single submitter
- p.Ile29Thr Single submitter
- p.Ile418Thr Single submitter ⚠
- p.Ile440Thr Single submitter ⚠
- p.Ile702Arg Single submitter ⚠
- p.Ile737Thr Single submitter ⚠
- p.Leu12Met Single submitter
- p.Leu175Ser Single submitter ⚠
- p.Leu193Pro Single submitter ⚠
- p.Leu31Phe Single submitter
- p.Leu340Phe Single submitter ⚠
- p.Leu68Phe Single submitter
- p.Lys546Asn Single submitter ⚠
- p.Met276Val Single submitter ⚠
- p.Met52Thr Single submitter
- p.Met815Thr Single submitter ⚠
- p.Met815Val Single submitter ⚠
- p.Met835Val Single submitter ⚠
- p.Phe439Val Single submitter ⚠
- p.Phe543Leu Single submitter ⚠
- p.Phe577Leu Single submitter ⚠
- p.Pro192Leu Single submitter ⚠
- p.Pro194Leu Single submitter ⚠
- p.Pro474Ser Single submitter ⚠
- p.Pro668Arg Single submitter ⚠
- p.Pro70Thr Single submitter
- p.Thr207Ile Single submitter ⚠
- p.Thr246Ile Single submitter ⚠
- p.Thr339Ile Single submitter ⚠
- p.Thr374Ile Single submitter ⚠
- p.Thr387Pro Single submitter ⚠
- p.Thr47Met Single submitter
- p.Thr857Ile Single submitter ⚠
- p.Trp266Gly Single submitter ⚠
- p.Trp687Arg Single submitter ⚠
- p.Tyr518Cys Single submitter ⚠
- p.Tyr557Cys Single submitter ⚠
- p.Val257Ile Single submitter ⚠
- p.Val342Met Single submitter ⚠
- p.Val44Leu Single submitter
- p.Val516Ala Single submitter ⚠
- p.Val516Met Single submitter ⚠
- p.Val588Gly Single submitter ⚠
- p.Val742Ala Single submitter
- p.Val785Leu Single submitter ⚠
- c.291+9303G>A No assertion criteria autism ⚠