FDPS — 57 ClinVar variants
All ClinVar germline FDPS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 44 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 4 Benign · 5 Likely benign · 44 Uncertain significance
Full FDPS 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 18
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FDPS p.Ala119Val Uncertain significance Single submitter
- FDPS p.Arg110Gly Uncertain significance Single submitter
- FDPS p.Arg110Trp Uncertain significance Single submitter
- FDPS p.Arg417Gln Uncertain significance Single submitter
- FDPS p.Arg417Trp Uncertain significance Single submitter
- FDPS p.Asn248His Uncertain significance Single submitter
- FDPS p.Cys51Gly Uncertain significance Single submitter
- FDPS p.Gln329Pro Uncertain significance Single submitter
- FDPS p.Gln397Arg Uncertain significance Single submitter
- FDPS p.Glu224Lys Uncertain significance Single submitter
- FDPS p.His86Tyr Uncertain significance Single submitter
- FDPS p.Ile307Val Uncertain significance Single submitter
- FDPS p.Leu14Arg Uncertain significance Single submitter
- FDPS p.Pro16Leu Uncertain significance Single submitter
- FDPS p.Pro58Leu Uncertain significance Single submitter
- FDPS p.Thr55Pro Uncertain significance Single submitter
- FDPS p.Tyr349Ser Uncertain significance Single submitter
- FDPS p.Val12Phe Uncertain significance Single submitter
Predictors split 26
The independent predictors disagree with each other — read with care.
- FDPS p.Arg214Gln Uncertain significance Single submitter
- FDPS p.Arg23Gln Uncertain significance Single submitter
- FDPS p.Arg23Trp Uncertain significance Single submitter
- FDPS p.Arg25Lys Uncertain significance Single submitter
- FDPS p.Arg5Cys Uncertain significance Single submitter
- FDPS p.Asn196Ser Uncertain significance Single submitter
- FDPS p.Asn221Lys Uncertain significance Single submitter
- FDPS p.Glu103Asp Uncertain significance Single submitter
- FDPS p.Glu116Lys Uncertain significance Single submitter
- FDPS p.Glu288Ala Uncertain significance Single submitter
- FDPS p.Glu290Ala Uncertain significance Single submitter
- FDPS p.Gly316Ala Uncertain significance Single submitter
- FDPS p.Ile195Val Uncertain significance Single submitter
- FDPS p.Ile90Met Uncertain significance Single submitter
- FDPS p.Leu225Val Uncertain significance Single submitter
- FDPS p.Leu394Val Uncertain significance Single submitter
- FDPS p.Lys80Asn Uncertain significance Single submitter
- FDPS p.Pro217His Uncertain significance Single submitter
- FDPS p.Pro401Thr Uncertain significance Single submitter
- FDPS p.Ser319Ile Uncertain significance Single submitter
- FDPS p.Ser334Gly Uncertain significance Single submitter
- FDPS p.Thr321Ile Uncertain significance Single submitter
- FDPS p.Tyr212Cys Uncertain significance Single submitter
- FDPS p.Tyr218Cys Uncertain significance Single submitter
- FDPS p.Val36Met Uncertain significance Single submitter
-
FDPS p.Arg48Cys
Benign
No assertion criteria
FDPS-related disorder
All FDPS variants
Pathogenic 3
- c.481-1776_847-143del No assertion criteria porokeratosis 9, multiple types
- c.684+1G>A No assertion criteria porokeratosis 9, multiple types
- p.Arg179Gln No assertion criteria porokeratosis 9, multiple types
Likely pathogenic 1
- c.684+2T>G Single submitter
Benign 4
- p.Arg48Cys No assertion criteria FDPS-related disorder ⚠
- p.Ile120Thr No assertion criteria FDPS-related disorder
- p.Ser63= No assertion criteria FDPS-related disorder
- p.Val364Ala No assertion criteria FDPS-related disorder
Likely benign 5
- p.Ala399Ser Single submitter
- p.Ile104Thr Single submitter
- p.Phe83= Single submitter
- p.Ala283= No assertion criteria FDPS-related disorder
- p.Tyr219= No assertion criteria FDPS-related disorder
Uncertain significance 44
- p.Ala119Val Single submitter ⚠
- p.Arg110Gly Single submitter ⚠
- p.Arg110Trp Single submitter ⚠
- p.Arg214Gln Single submitter ⚠
- p.Arg23Gln Single submitter ⚠
- p.Arg23Trp Single submitter ⚠
- p.Arg25Lys Single submitter ⚠
- p.Arg417Gln Single submitter ⚠
- p.Arg417Trp Single submitter ⚠
- p.Arg5Cys Single submitter ⚠
- p.Asn196Ser Single submitter ⚠
- p.Asn221Lys Single submitter ⚠
- p.Asn248His Single submitter ⚠
- p.Cys51Gly Single submitter ⚠
- p.Gln329Pro Single submitter ⚠
- p.Gln397Arg Single submitter ⚠
- p.Glu103Asp Single submitter ⚠
- p.Glu116Lys Single submitter ⚠
- p.Glu224Lys Single submitter ⚠
- p.Glu288Ala Single submitter ⚠
- p.Glu290Ala Single submitter ⚠
- p.Gly316Ala Single submitter ⚠
- p.His86Tyr Single submitter ⚠
- p.Ile195Val Single submitter ⚠
- p.Ile307Val Single submitter ⚠
- p.Ile90Met Single submitter ⚠
- p.Leu14Arg Single submitter ⚠
- p.Leu225Val Single submitter ⚠
- p.Leu394Val Single submitter ⚠
- p.Lys80Asn Single submitter ⚠
- p.Pro16Leu Single submitter ⚠
- p.Pro217His Single submitter ⚠
- p.Pro401Thr Single submitter ⚠
- p.Pro58Leu Single submitter ⚠
- p.Ser319Ile Single submitter ⚠
- p.Ser334Gly Single submitter ⚠
- p.Thr321Ile Single submitter ⚠
- p.Thr55Pro Single submitter ⚠
- p.Trp26Ter Single submitter response to aminobisphosphonates
- p.Tyr212Cys Single submitter ⚠
- p.Tyr218Cys Single submitter ⚠
- p.Tyr349Ser Single submitter ⚠
- p.Val12Phe Single submitter ⚠
- p.Val36Met Single submitter ⚠