FUCA2 — 69 ClinVar variants
All ClinVar germline FUCA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
3 Benign · 4 Likely benign · 62 Uncertain significance
Full FUCA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 38
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FUCA2 p.Ala168Asp Uncertain significance Single submitter
- FUCA2 p.Ala28Val Uncertain significance Single submitter
- FUCA2 p.Ala462Gly Uncertain significance Single submitter
- FUCA2 p.Arg202Trp Uncertain significance Single submitter
- FUCA2 p.Arg254Gln Uncertain significance Single submitter
- FUCA2 p.Arg354Lys Uncertain significance Single submitter
- FUCA2 p.Arg8Ser Uncertain significance Single submitter
- FUCA2 p.Asn171Asp Uncertain significance Single submitter
- FUCA2 p.Asn219Ile Uncertain significance Single submitter
- FUCA2 p.Asn465Asp Uncertain significance Single submitter
- FUCA2 p.Asp261Gly Uncertain significance Single submitter
- FUCA2 p.Asp35Asn Uncertain significance Single submitter
- FUCA2 p.Gln407Lys Uncertain significance Single submitter
- FUCA2 p.Glu307Val Uncertain significance Single submitter
- FUCA2 p.Glu88Lys Uncertain significance Single submitter
- FUCA2 p.Gly56Arg Uncertain significance Single submitter
- FUCA2 p.Gly70Ser Uncertain significance Single submitter
- FUCA2 p.Ile441Val Uncertain significance Single submitter
- FUCA2 p.Ile83Thr Uncertain significance Single submitter
- FUCA2 p.Leu21Pro Uncertain significance Single submitter
- FUCA2 p.Leu244Trp Uncertain significance Single submitter
- FUCA2 p.Lys110Asn Uncertain significance Single submitter
- FUCA2 p.Lys299Asn Uncertain significance Single submitter
- FUCA2 p.Lys361Glu Uncertain significance Single submitter
- FUCA2 p.Phe243Leu Uncertain significance Single submitter
- FUCA2 p.Pro12Leu Uncertain significance Single submitter
- FUCA2 p.Pro23Leu Uncertain significance Single submitter
- FUCA2 p.Pro25Leu Uncertain significance Single submitter
- FUCA2 p.Pro25Ser Uncertain significance Single submitter
- FUCA2 p.Pro47Arg Uncertain significance Single submitter
- FUCA2 p.Pro96Leu Uncertain significance Single submitter
- FUCA2 p.Ser40Phe Uncertain significance Single submitter
- FUCA2 p.Thr37Ser Uncertain significance Single submitter
- FUCA2 p.Trp150Arg Uncertain significance Single submitter
- FUCA2 p.Trp238Arg Uncertain significance Single submitter
- FUCA2 p.Trp61Ser Uncertain significance Single submitter
- FUCA2 p.Tyr100His Uncertain significance Single submitter
- FUCA2 p.Tyr181Cys Uncertain significance Single submitter
Predictors split 20
The independent predictors disagree with each other — read with care.
- FUCA2 p.Phe184Leu Uncertain significance Multiple submitters
- FUCA2 p.Ala43Val Uncertain significance Single submitter
- FUCA2 p.Arg176Cys Uncertain significance Single submitter
- FUCA2 p.Arg280Cys Uncertain significance Single submitter
- FUCA2 p.Asn377His Uncertain significance Single submitter
- FUCA2 p.Asp119Gly Uncertain significance Single submitter
- FUCA2 p.Gln376Glu Uncertain significance Single submitter
- FUCA2 p.Gly125Ser Uncertain significance Single submitter
- FUCA2 p.Gly229Ser Uncertain significance Single submitter
- FUCA2 p.Leu165Phe Uncertain significance Single submitter
- FUCA2 p.Leu183Arg Uncertain significance Single submitter
- FUCA2 p.Leu210Trp Uncertain significance Single submitter
- FUCA2 p.Leu323Ile Uncertain significance Single submitter
- FUCA2 p.Leu408Met Uncertain significance Single submitter
- FUCA2 p.Pro105Thr Uncertain significance Single submitter
- FUCA2 p.Pro234Leu Uncertain significance Single submitter
- FUCA2 p.Thr108Ile Uncertain significance Single submitter
- FUCA2 p.Thr108Pro Uncertain significance Single submitter
- FUCA2 p.Thr37Ile Uncertain significance Single submitter
- FUCA2 p.Val362Gly Uncertain significance Single submitter
All FUCA2 variants
Benign 3
- c.413-5T>C Single submitter
- c.964-7T>A Single submitter
- p.Asp383= Single submitter
Likely benign 4
- p.Ala460Thr Single submitter
- p.Arg202Gln Single submitter
- p.Glu81= Single submitter
- p.Pro24Leu Single submitter
Uncertain significance 62
- p.Phe184Leu Multiple submitters ⚠
- p.Ala168Asp Single submitter ⚠
- p.Ala28Val Single submitter ⚠
- p.Ala43Val Single submitter ⚠
- p.Ala462Gly Single submitter ⚠
- p.Arg176Cys Single submitter ⚠
- p.Arg202Trp Single submitter ⚠
- p.Arg254Gln Single submitter ⚠
- p.Arg280Cys Single submitter ⚠
- p.Arg354Lys Single submitter ⚠
- p.Arg8Ser Single submitter ⚠
- p.Asn171Asp Single submitter ⚠
- p.Asn219Ile Single submitter ⚠
- p.Asn377His Single submitter ⚠
- p.Asn465Asp Single submitter ⚠
- p.Asp119Gly Single submitter ⚠
- p.Asp261Gly Single submitter ⚠
- p.Asp35Asn Single submitter ⚠
- p.Gln376Glu Single submitter ⚠
- p.Gln407Lys Single submitter ⚠
- p.Glu307Val Single submitter ⚠
- p.Glu88Lys Single submitter ⚠
- p.Gly125Ser Single submitter ⚠
- p.Gly229Ser Single submitter ⚠
- p.Gly330Glu Single submitter
- p.Gly56Arg Single submitter ⚠
- p.Gly70Ser Single submitter ⚠
- p.Ile441Val Single submitter ⚠
- p.Ile83Thr Single submitter ⚠
- p.Leu165Phe Single submitter ⚠
- p.Leu183Arg Single submitter ⚠
- p.Leu210Trp Single submitter ⚠
- p.Leu21Pro Single submitter ⚠
- p.Leu244Trp Single submitter ⚠
- p.Leu323Ile Single submitter ⚠
- p.Leu408Met Single submitter ⚠
- p.Lys110Asn Single submitter ⚠
- p.Lys299Asn Single submitter ⚠
- p.Lys361Glu Single submitter ⚠
- p.Met295Arg Single submitter
- p.Phe243Leu Single submitter ⚠
- p.Pro105Thr Single submitter ⚠
- p.Pro12Leu Single submitter ⚠
- p.Pro234Leu Single submitter ⚠
- p.Pro23Leu Single submitter ⚠
- p.Pro25Leu Single submitter ⚠
- p.Pro25Ser Single submitter ⚠
- p.Pro47Arg Single submitter ⚠
- p.Pro67Ala Single submitter
- p.Pro96Leu Single submitter ⚠
- p.Ser40Phe Single submitter ⚠
- p.Thr108Ile Single submitter ⚠
- p.Thr108Pro Single submitter ⚠
- p.Thr37Ile Single submitter ⚠
- p.Thr37Ser Single submitter ⚠
- p.Trp150Arg Single submitter ⚠
- p.Trp238Arg Single submitter ⚠
- p.Trp61Ser Single submitter ⚠
- p.Tyr100His Single submitter ⚠
- p.Tyr181Cys Single submitter ⚠
- p.Val362Gly Single submitter ⚠
- p.Val63Met Single submitter