NTF4 — 50 ClinVar variants
All ClinVar germline NTF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →
1 Likely pathogenic · 2 Benign · 7 Likely benign · 40 Uncertain significance
Full NTF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 37
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 30
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
NTF4 p.Ala127Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Ala172Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Ala54Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Ala71Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Ala73Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Arg107His
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Arg108Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Arg116His
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Arg133Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Arg187His
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Arg194Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Arg209Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Arg209Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Arg91Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Cys170Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Glu117Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Glu23Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Gly154Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Gly155Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Gly160Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Gly189Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Gly51Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Gly81Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Ile22Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Pro5Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Pro74Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Ser130Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Val177Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Val20Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Val20Met
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 7
The independent predictors disagree with each other — read with care.
-
NTF4 p.Arg114Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Arg45Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Arg77Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Leu48Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Ser205Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Trp39Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
NTF4 p.Val118Leu
Uncertain significance
Single submitter
Inborn genetic diseases
All NTF4 variants
Likely pathogenic 1
- p.Gln174Arg Single submitter Inborn genetic diseases
Benign 2
- c.*110A>G Multiple submitters
- p.Arg68Gln Multiple submitters
Likely benign 7
- c.-12-152C>T Multiple submitters
- p.Ala88Val Multiple submitters intellectual disability, X-linked 99
- c.-12-64C>T Single submitter
- p.Ala52= Single submitter
- p.Arg206Trp Single submitter glaucoma 1, open angle, O
- p.Thr109= Single submitter
- p.Pro151= No assertion criteria NTF4-related disorder
Uncertain significance 40
- p.Ala127Ser Single submitter Inborn genetic diseases ⚠
- p.Ala172Thr Single submitter Inborn genetic diseases ⚠
- p.Ala54Thr Single submitter Inborn genetic diseases ⚠
- p.Ala71Val Single submitter Inborn genetic diseases ⚠
- p.Ala73Val Single submitter Inborn genetic diseases ⚠
- p.Arg107His Single submitter Inborn genetic diseases ⚠
- p.Arg108Gln Single submitter Inborn genetic diseases ⚠
- p.Arg108Trp Single submitter Inborn genetic diseases
- p.Arg114Cys Single submitter Inborn genetic diseases ⚠
- p.Arg116His Single submitter Inborn genetic diseases ⚠
- p.Arg133Cys Single submitter Inborn genetic diseases ⚠
- p.Arg187His Single submitter Inborn genetic diseases ⚠
- p.Arg194Gln Single submitter Inborn genetic diseases ⚠
- p.Arg206Gln Single submitter glaucoma 1, open angle, O
- p.Arg209Gln Single submitter Inborn genetic diseases ⚠
- p.Arg209Trp Single submitter Inborn genetic diseases ⚠
- p.Arg45Gln Single submitter Inborn genetic diseases ⚠
- p.Arg77Cys Single submitter Inborn genetic diseases ⚠
- p.Arg91Trp Single submitter Inborn genetic diseases ⚠
- p.Cys170Arg Single submitter Inborn genetic diseases ⚠
- p.Glu117Lys Single submitter Inborn genetic diseases ⚠
- p.Glu23Asp Single submitter Inborn genetic diseases ⚠
- p.Gly154Asp Single submitter Inborn genetic diseases ⚠
- p.Gly155Glu Single submitter Inborn genetic diseases ⚠
- p.Gly160Arg Single submitter Inborn genetic diseases ⚠
- p.Gly189Arg Single submitter Inborn genetic diseases ⚠
- p.Gly51Ser Single submitter Inborn genetic diseases ⚠
- p.Gly81Arg Single submitter Inborn genetic diseases ⚠
- p.Ile22Val Single submitter Inborn genetic diseases ⚠
- p.Leu48Pro Single submitter Inborn genetic diseases ⚠
- p.Pro53Ser Single submitter Inborn genetic diseases
- p.Pro5Thr Single submitter Inborn genetic diseases ⚠
- p.Pro74Leu Single submitter Inborn genetic diseases ⚠
- p.Ser130Asn Single submitter Inborn genetic diseases ⚠
- p.Ser205Gly Single submitter Inborn genetic diseases ⚠
- p.Trp39Arg Single submitter Inborn genetic diseases ⚠
- p.Val118Leu Single submitter Inborn genetic diseases ⚠
- p.Val177Leu Single submitter Inborn genetic diseases ⚠
- p.Val20Leu Single submitter Inborn genetic diseases ⚠
- p.Val20Met Single submitter Inborn genetic diseases ⚠