TXLNA — 72 ClinVar variants
All ClinVar germline TXLNA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
1 Benign · 5 Likely benign · 66 Uncertain significance
Full TXLNA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
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 42
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TXLNA p.Ala105Thr Uncertain significance Single submitter
- TXLNA p.Ala38Ser Uncertain significance Single submitter
- TXLNA p.Ala473Gly Uncertain significance Single submitter
- TXLNA p.Ala544Pro Uncertain significance Single submitter
- TXLNA p.Arg246Cys Uncertain significance Single submitter
- TXLNA p.Arg250Trp Uncertain significance Single submitter
- TXLNA p.Arg435Gln Uncertain significance Single submitter
- TXLNA p.Arg435Trp Uncertain significance Single submitter
- TXLNA p.Arg466Gln Uncertain significance Single submitter
- TXLNA p.Arg472Gln Uncertain significance Single submitter
- TXLNA p.Arg504Lys Uncertain significance Single submitter
- TXLNA p.Asn130Ile Uncertain significance Single submitter
- TXLNA p.Asn130Ser Uncertain significance Single submitter
- TXLNA p.Asn479Ser Uncertain significance Single submitter
- TXLNA p.Asp98His Uncertain significance Single submitter
- TXLNA p.Gln4Glu Uncertain significance Single submitter
- TXLNA p.Glu257Asp Uncertain significance Single submitter
- TXLNA p.Glu392Lys Uncertain significance Single submitter
- TXLNA p.Gly229Ser Uncertain significance Single submitter
- TXLNA p.Gly494Cys Uncertain significance Single submitter
- TXLNA p.Leu174Val Uncertain significance Single submitter
- TXLNA p.Leu212Phe Uncertain significance Single submitter
- TXLNA p.Leu387Phe Uncertain significance Single submitter
- TXLNA p.Lys163Arg Uncertain significance Single submitter
- TXLNA p.Lys310Arg Uncertain significance Single submitter
- TXLNA p.Lys423Thr Uncertain significance Single submitter
- TXLNA p.Pro104Leu Uncertain significance Single submitter
- TXLNA p.Pro159Leu Uncertain significance Single submitter
- TXLNA p.Pro23Leu Uncertain significance Single submitter
- TXLNA p.Pro27Ser Uncertain significance Single submitter
- TXLNA p.Pro34Ser Uncertain significance Single submitter
- TXLNA p.Pro508Ser Uncertain significance Single submitter
- TXLNA p.Pro528Leu Uncertain significance Single submitter
- TXLNA p.Ser18Gly Uncertain significance Single submitter
- TXLNA p.Ser19Arg Uncertain significance Single submitter
- TXLNA p.Ser489Asn Uncertain significance Single submitter
- TXLNA p.Ser514Thr Uncertain significance Single submitter
- TXLNA p.Ser65Pro Uncertain significance Single submitter
- TXLNA p.Thr142Ala Uncertain significance Single submitter
- TXLNA p.Thr476Ser Uncertain significance Single submitter
- TXLNA p.Val260Met Uncertain significance Single submitter
- TXLNA p.Val407Ile Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- TXLNA p.Arg228His Uncertain significance Single submitter
- TXLNA p.Arg253His Uncertain significance Single submitter
- TXLNA p.Arg294His Uncertain significance Single submitter
- TXLNA p.Asn440Ser Uncertain significance Single submitter
- TXLNA p.Asp81Asn Uncertain significance Single submitter
- TXLNA p.Gln209Glu Uncertain significance Single submitter
- TXLNA p.Gln285Glu Uncertain significance Single submitter
- TXLNA p.Glu358Asp Uncertain significance Single submitter
- TXLNA p.Glu396Asp Uncertain significance Single submitter
- TXLNA p.Gly167Asp Uncertain significance Single submitter
- TXLNA p.His276Gln Uncertain significance Single submitter
- TXLNA p.His291Gln Uncertain significance Single submitter
- TXLNA p.Ile323Met Uncertain significance Single submitter
- TXLNA p.Lys311Gln Uncertain significance Single submitter
- TXLNA p.Met431Ile Uncertain significance Single submitter
- TXLNA p.Ser232Arg Uncertain significance Single submitter
- TXLNA p.Thr184Asn Uncertain significance Single submitter
- TXLNA p.Thr274Ser Uncertain significance Single submitter
All TXLNA variants
Benign 1
- p.Ser514Arg Multiple submitters
Likely benign 5
- p.Ala544Thr Single submitter
- p.Arg228= Single submitter
- p.Ser19Asn Single submitter
- p.Ser495Pro Single submitter
- p.Val235Ile Single submitter
Uncertain significance 66
- c.1251+1G>C Single submitter
- c.963+1G>C Single submitter
- p.Ala105Thr Single submitter ⚠
- p.Ala38Ser Single submitter ⚠
- p.Ala473Gly Single submitter ⚠
- p.Ala544Pro Single submitter ⚠
- p.Arg228His Single submitter ⚠
- p.Arg246Cys Single submitter ⚠
- p.Arg250Trp Single submitter ⚠
- p.Arg253His Single submitter ⚠
- p.Arg294His Single submitter ⚠
- p.Arg435Gln Single submitter ⚠
- p.Arg435Trp Single submitter ⚠
- p.Arg466Gln Single submitter ⚠
- p.Arg472Gln Single submitter ⚠
- p.Arg504Lys Single submitter ⚠
- p.Asn130Ile Single submitter ⚠
- p.Asn130Ser Single submitter ⚠
- p.Asn252Ser Single submitter
- p.Asn440Ser Single submitter ⚠
- p.Asn479Ser Single submitter ⚠
- p.Asp81Asn Single submitter ⚠
- p.Asp98His Single submitter ⚠
- p.Gln209Glu Single submitter ⚠
- p.Gln285Glu Single submitter ⚠
- p.Gln334fs Single submitter
- p.Gln4Glu Single submitter ⚠
- p.Glu257Asp Single submitter ⚠
- p.Glu358Asp Single submitter ⚠
- p.Glu392Lys Single submitter ⚠
- p.Glu396Asp Single submitter ⚠
- p.Gly167Asp Single submitter ⚠
- p.Gly229Ser Single submitter ⚠
- p.Gly494Cys Single submitter ⚠
- p.His276Gln Single submitter ⚠
- p.His291Gln Single submitter ⚠
- p.Ile323Met Single submitter ⚠
- p.Leu174Val Single submitter ⚠
- p.Leu212Phe Single submitter ⚠
- p.Leu387Phe Single submitter ⚠
- p.Lys163Arg Single submitter ⚠
- p.Lys310Arg Single submitter ⚠
- p.Lys311Gln Single submitter ⚠
- p.Lys423Thr Single submitter ⚠
- p.Met431Ile Single submitter ⚠
- p.Pro104Leu Single submitter ⚠
- p.Pro159Leu Single submitter ⚠
- p.Pro23Leu Single submitter ⚠
- p.Pro27Ser Single submitter ⚠
- p.Pro34Ser Single submitter ⚠
- p.Pro508Ser Single submitter ⚠
- p.Pro528Leu Single submitter ⚠
- p.Ser18Gly Single submitter ⚠
- p.Ser19Arg Single submitter ⚠
- p.Ser232Arg Single submitter ⚠
- p.Ser489Asn Single submitter ⚠
- p.Ser514Thr Single submitter ⚠
- p.Ser65Pro Single submitter ⚠
- p.Thr142Ala Single submitter ⚠
- p.Thr184Asn Single submitter ⚠
- p.Thr274Ser Single submitter ⚠
- p.Thr410Ala Single submitter
- p.Thr430Ile Single submitter
- p.Thr476Ser Single submitter ⚠
- p.Val260Met Single submitter ⚠
- p.Val407Ile Single submitter ⚠