TXNL4A — 27 ClinVar variants
All ClinVar germline TXNL4A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 7 flagged for review →
4 Pathogenic · 2 Likely pathogenic · 8 Benign · 1 Benign/Likely benign · 3 Likely benign · 9 Uncertain significance
Full TXNL4A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 7
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 7
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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TXNL4A p.Asn87Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TXNL4A p.Val25Glu
Uncertain significance
Multiple submitters
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
-
TXNL4A p.Arg29Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
TXNL4A p.Pro67Ser
Uncertain significance
Single submitter
choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
-
TXNL4A p.Thr118Met
Uncertain significance
Single submitter
Inborn genetic diseases
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TXNL4A p.Val14Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- TXNL4A p.Leu8Arg Uncertain significance No assertion criteria
All TXNL4A variants
Pathogenic 4
- c.258-3C>G No assertion criteria choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
- c.Exon No assertion criteria choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
- p.Asn87Alafs No assertion criteria choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
- p.His32fs No assertion criteria choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Likely pathogenic 2
Benign 8
- c.153+1617A>G Multiple submitters
- c.257+201G>A Multiple submitters
- c.153+1349A>G Single submitter
- c.153+1790dup Single submitter
- c.153+1837A>T Single submitter
- c.154-114_154-110del Single submitter
- c.258-120T>C Single submitter
- c.-60-10923A>G Single submitter
Benign/Likely benign 1
- p.Arg141= Multiple submitters choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
Likely benign 3
- c.154-14del Single submitter
- p.Ala56= No assertion criteria TXNL4A-related disorder
- p.Ile28= No assertion criteria TXNL4A-related disorder
Uncertain significance 9
- p.Asn87Ser Multiple submitters Inborn genetic diseases ⚠
- p.Val25Glu Multiple submitters choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome ⚠
- c.-61+1G>A Single submitter choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome
- p.Arg29Pro Single submitter Inborn genetic diseases ⚠
- p.Lys51Met Single submitter Inborn genetic diseases
- p.Pro67Ser Single submitter choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome ⚠
- p.Thr118Met Single submitter Inborn genetic diseases ⚠
- p.Val14Gly Single submitter Inborn genetic diseases ⚠
- p.Leu8Arg No assertion criteria ⚠