NDNF — 77 ClinVar variants
All ClinVar germline NDNF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 53 flagged for review →
3 Pathogenic · 3 Likely pathogenic · 6 Benign · 6 Likely benign · 59 Uncertain significance
Full NDNF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 53
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NDNF p.Lys275Asn
Uncertain significance
Multiple submitters
hypogonadotropic hypogonadism 25 with anosmia
-
NDNF p.Lys341Glu
Uncertain significance
Multiple submitters
hypogonadotropic hypogonadism 25 with anosmia
- NDNF p.Ala270Gly Uncertain significance Single submitter
- NDNF p.Ala326Thr Uncertain significance Single submitter
- NDNF p.Ala526Val Uncertain significance Single submitter
- NDNF p.Arg278Cys Uncertain significance Single submitter
- NDNF p.Arg333Gly Uncertain significance Single submitter
- NDNF p.Asn295Asp Uncertain significance Single submitter
- NDNF p.Asn488Asp Uncertain significance Single submitter
- NDNF p.Asp347Val Uncertain significance Single submitter
- NDNF p.Asp487Asn Uncertain significance Single submitter
- NDNF p.Asp492Glu Uncertain significance Single submitter
- NDNF p.Cys7Tyr Uncertain significance Single submitter
- NDNF p.Gln408Glu Uncertain significance Single submitter
- NDNF p.Ile293Met Uncertain significance Single submitter
- NDNF p.Leu11Phe Uncertain significance Single submitter
- NDNF p.Leu176Ser Uncertain significance Single submitter
- NDNF p.Lys155Arg Uncertain significance Single submitter
- NDNF p.Lys482Ile Uncertain significance Single submitter
- NDNF p.Lys494Thr Uncertain significance Single submitter
- NDNF p.Lys556Arg Uncertain significance Single submitter
- NDNF p.Met430Ile Uncertain significance Single submitter
- NDNF p.Met430Thr Uncertain significance Single submitter
- NDNF p.Phe315Ile Uncertain significance Single submitter
- NDNF p.Pro109Ser Uncertain significance Single submitter
- NDNF p.Pro172Gln Uncertain significance Single submitter
- NDNF p.Pro198Thr Uncertain significance Single submitter
- NDNF p.Pro258Leu Uncertain significance Single submitter
- NDNF p.Pro413Ser Uncertain significance Single submitter
- NDNF p.Pro439Arg Uncertain significance Single submitter
- NDNF p.Pro96Leu Uncertain significance Single submitter
- NDNF p.Ser17Thr Uncertain significance Single submitter
- NDNF p.Ser232Asn Uncertain significance Single submitter
- NDNF p.Ser53Gly Uncertain significance Single submitter
- NDNF p.Thr308Met Uncertain significance Single submitter
- NDNF p.Thr330Ala Uncertain significance Single submitter
- NDNF p.Thr60Ala Uncertain significance Single submitter
- NDNF p.Tyr281Phe Uncertain significance Single submitter
- NDNF p.Val182Ile Uncertain significance Single submitter
- NDNF p.Val301Ile Uncertain significance Single submitter
- NDNF p.Val562Ala Uncertain significance Single submitter
Predictors split 12
The independent predictors disagree with each other — read with care.
- NDNF p.Ala226Val Uncertain significance Single submitter
- NDNF p.Arg266Cys Uncertain significance Single submitter
- NDNF p.Arg357Ser Uncertain significance Single submitter
- NDNF p.Arg565Gly Uncertain significance Single submitter
- NDNF p.Glu70Lys Uncertain significance Single submitter
- NDNF p.Lys217Ile Uncertain significance Single submitter
- NDNF p.Phe255Ser Uncertain significance Single submitter
- NDNF p.Phe257Ser Uncertain significance Single submitter
- NDNF p.Pro174Ala Uncertain significance Single submitter
- NDNF p.Pro306Ser Uncertain significance Single submitter
- NDNF p.Thr166Ile Uncertain significance Single submitter
- NDNF p.Thr529Ile Uncertain significance Single submitter
All NDNF variants
Pathogenic 3
- p.Lys62Ter No assertion criteria hypogonadotropic hypogonadism 25 with anosmia
- p.Trp469Ter No assertion criteria hypogonadotropic hypogonadism 25 with anosmia
- p.Tyr128fs No assertion criteria hypogonadotropic hypogonadism 25 with anosmia
Likely pathogenic 3
- p.Glu337Ter Single submitter
- p.Ile387fs Single submitter hypogonadotropic hypogonadism 25 with anosmia
- p.Val184fs Single submitter hypogonadotropic hypogonadism 25 with anosmia
Benign 6
- p.Asp313= Multiple submitters hypogonadotropic hypogonadism 25 with anosmia
- p.Leu145= Multiple submitters hypogonadotropic hypogonadism 25 with anosmia
- p.Leu345= Multiple submitters hypogonadotropic hypogonadism 25 with anosmia
- p.Leu523= Multiple submitters hypogonadotropic hypogonadism 25 with anosmia
- p.Lys62= Multiple submitters hypogonadotropic hypogonadism 25 with anosmia
- p.Ser464= Multiple submitters hypogonadotropic hypogonadism 25 with anosmia
Likely benign 6
- c.314-13C>T Single submitter
- p.Gly359= Single submitter
- p.Ile319Val Single submitter
- p.Thr201Ser Single submitter
- p.Val419Ile Single submitter
- p.Asp234Gly No assertion criteria NDNF-related condition
Uncertain significance 59
- p.Lys275Asn Multiple submitters hypogonadotropic hypogonadism 25 with anosmia ⚠
- p.Lys341Glu Multiple submitters hypogonadotropic hypogonadism 25 with anosmia ⚠
- p.Ala226fs Single submitter hypogonadotropic hypogonadism 25 with anosmia
- p.Ala226Val Single submitter ⚠
- p.Ala270Gly Single submitter ⚠
- p.Ala326Thr Single submitter ⚠
- p.Ala526Val Single submitter ⚠
- p.Arg266Cys Single submitter ⚠
- p.Arg278Cys Single submitter ⚠
- p.Arg333Gly Single submitter ⚠
- p.Arg357Ser Single submitter ⚠
- p.Arg565Gly Single submitter ⚠
- p.Asn295Asp Single submitter ⚠
- p.Asn488Asp Single submitter ⚠
- p.Asp347Val Single submitter ⚠
- p.Asp487Asn Single submitter ⚠
- p.Asp492Glu Single submitter ⚠
- p.Cys7Tyr Single submitter ⚠
- p.Gln408Glu Single submitter ⚠
- p.Glu218Gly Single submitter
- p.Glu70Lys Single submitter ⚠
- p.Gly144Ser Single submitter
- p.Ile293Met Single submitter ⚠
- p.Leu11Phe Single submitter ⚠
- p.Leu15Pro Single submitter hypogonadotropic hypogonadism 25 with anosmia
- p.Leu176Ser Single submitter ⚠
- p.Lys155Arg Single submitter ⚠
- p.Lys217Ile Single submitter ⚠
- p.Lys341Asn Single submitter
- p.Lys482Ile Single submitter ⚠
- p.Lys494Thr Single submitter ⚠
- p.Lys556Arg Single submitter ⚠
- p.Met430Ile Single submitter ⚠
- p.Met430Thr Single submitter ⚠
- p.Phe255Ser Single submitter ⚠
- p.Phe257Ser Single submitter ⚠
- p.Phe299Ser Single submitter
- p.Phe315Ile Single submitter ⚠
- p.Pro109Ser Single submitter ⚠
- p.Pro172Gln Single submitter ⚠
- p.Pro174Ala Single submitter ⚠
- p.Pro198Thr Single submitter ⚠
- p.Pro258Leu Single submitter ⚠
- p.Pro306Ser Single submitter ⚠
- p.Pro413Ser Single submitter ⚠
- p.Pro439Arg Single submitter ⚠
- p.Pro96Leu Single submitter ⚠
- p.Ser17Thr Single submitter ⚠
- p.Ser232Asn Single submitter ⚠
- p.Ser53Gly Single submitter ⚠
- p.Thr166Ile Single submitter ⚠
- p.Thr308Met Single submitter ⚠
- p.Thr330Ala Single submitter ⚠
- p.Thr529Ile Single submitter ⚠
- p.Thr60Ala Single submitter ⚠
- p.Tyr281Phe Single submitter ⚠
- p.Val182Ile Single submitter ⚠
- p.Val301Ile Single submitter ⚠
- p.Val562Ala Single submitter ⚠