FNTA — 51 ClinVar variants
All ClinVar germline FNTA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
1 Pathogenic · 2 Benign · 1 Likely benign · 47 Uncertain significance
Full FNTA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 44
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.
- FNTA p.Arg121Gln Uncertain significance Single submitter
- FNTA p.Arg287Cys Uncertain significance Single submitter
- FNTA p.Arg287Gly Uncertain significance Single submitter
- FNTA p.Asn165Thr Uncertain significance Single submitter
- FNTA p.Asn218Lys Uncertain significance Single submitter
- FNTA p.Asn329Ser Uncertain significance Single submitter
- FNTA p.Asp53His Uncertain significance Single submitter
- FNTA p.Asp59His Uncertain significance Single submitter
- FNTA p.Gln184Arg Uncertain significance Single submitter
- FNTA p.Gln34Glu Uncertain significance Single submitter
- FNTA p.Glu187Ala Uncertain significance Single submitter
- FNTA p.Glu265Lys Uncertain significance Single submitter
- FNTA p.Glu5Lys Uncertain significance Single submitter
- FNTA p.Gly14Asp Uncertain significance Single submitter
- FNTA p.Gly54Arg Uncertain significance Single submitter
- FNTA p.Gly6Trp Uncertain significance Single submitter
- FNTA p.Gly8Arg Uncertain significance Single submitter
- FNTA p.His135Tyr Uncertain significance Single submitter
- FNTA p.Ile158Val Uncertain significance Single submitter
- FNTA p.Ile244Val Uncertain significance Single submitter
- FNTA p.Leu119Val Uncertain significance Single submitter
- FNTA p.Met51Thr Uncertain significance Single submitter
- FNTA p.Pro19Leu Uncertain significance Single submitter
- FNTA p.Pro271Leu Uncertain significance Single submitter
- FNTA p.Pro31Ala Uncertain significance Single submitter
- FNTA p.Ser143Thr Uncertain significance Single submitter
- FNTA p.Ser308Cys Uncertain significance Single submitter
- FNTA p.Tyr262Cys Uncertain significance Single submitter
- FNTA p.Val7Ile Uncertain significance Single submitter
- FNTA p.Val7Phe Uncertain significance Single submitter
Predictors split 14
The independent predictors disagree with each other — read with care.
- FNTA p.Arg287Pro Uncertain significance Single submitter
- FNTA p.Gln145Leu Uncertain significance Single submitter
- FNTA p.Glu339Val Uncertain significance Single submitter
- FNTA p.Ile192Thr Uncertain significance Single submitter
- FNTA p.Ile75Thr Uncertain significance Single submitter
- FNTA p.Leu295Val Uncertain significance Single submitter
- FNTA p.Leu300Phe Uncertain significance Single submitter
- FNTA p.Met322Ile Uncertain significance Single submitter
- FNTA p.Phe117Leu Uncertain significance Single submitter
- FNTA p.Pro61Leu Uncertain significance Single submitter
- FNTA p.Ser290Tyr Uncertain significance Single submitter
- FNTA p.Thr120Ser Uncertain significance Single submitter
- FNTA p.Val243Ile Uncertain significance Single submitter
- FNTA p.Val260Ala Uncertain significance Single submitter
All FNTA variants
Pathogenic 1
- p.Gly288fs No assertion criteria hypercholesterolemia, familial, 1
Benign 2
- p.Pro309= Multiple submitters
- p.Val64Ile Single submitter
Likely benign 1
- p.Asn371Ser Single submitter
Uncertain significance 47
- p.Arg121Gln Single submitter ⚠
- p.Arg287Cys Single submitter ⚠
- p.Arg287Gly Single submitter ⚠
- p.Arg287Pro Single submitter ⚠
- p.Asn165Thr Single submitter ⚠
- p.Asn218Lys Single submitter ⚠
- p.Asn329Ser Single submitter ⚠
- p.Asp110Gly Single submitter
- p.Asp53His Single submitter ⚠
- p.Asp59His Single submitter ⚠
- p.Gln145Leu Single submitter ⚠
- p.Gln184Arg Single submitter ⚠
- p.Gln21Ter Single submitter
- p.Gln34Glu Single submitter ⚠
- p.Glu187Ala Single submitter ⚠
- p.Glu265Lys Single submitter ⚠
- p.Glu339Val Single submitter ⚠
- p.Glu5Lys Single submitter ⚠
- p.Gly14Asp Single submitter ⚠
- p.Gly54Arg Single submitter ⚠
- p.Gly6Trp Single submitter ⚠
- p.Gly8Arg Single submitter ⚠
- p.His135Tyr Single submitter ⚠
- p.Ile158Val Single submitter ⚠
- p.Ile192Thr Single submitter ⚠
- p.Ile244Val Single submitter ⚠
- p.Ile75Thr Single submitter ⚠
- p.Leu119Val Single submitter ⚠
- p.Leu295Val Single submitter ⚠
- p.Leu300Phe Single submitter ⚠
- p.Met1Ile Single submitter
- p.Met322Ile Single submitter ⚠
- p.Met51Thr Single submitter ⚠
- p.Phe117Leu Single submitter ⚠
- p.Pro19Leu Single submitter ⚠
- p.Pro271Leu Single submitter ⚠
- p.Pro31Ala Single submitter ⚠
- p.Pro61Leu Single submitter ⚠
- p.Ser143Thr Single submitter ⚠
- p.Ser290Tyr Single submitter ⚠
- p.Ser308Cys Single submitter ⚠
- p.Thr120Ser Single submitter ⚠
- p.Tyr262Cys Single submitter ⚠
- p.Val243Ile Single submitter ⚠
- p.Val260Ala Single submitter ⚠
- p.Val7Ile Single submitter ⚠
- p.Val7Phe Single submitter ⚠