FARSA — 99 ClinVar variants
All ClinVar germline FARSA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 72 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 7 Benign · 12 Likely benign · 75 Uncertain significance
Full FARSA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 72
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 49
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- FARSA p.Ala148Thr Uncertain significance Single submitter
- FARSA p.Ala28Ser Uncertain significance Single submitter
- FARSA p.Ala28Val Uncertain significance Single submitter
- FARSA p.Ala335Val Uncertain significance Single submitter
- FARSA p.Ala340Pro Uncertain significance Single submitter
- FARSA p.Ala507Ser Uncertain significance Single submitter
- FARSA p.Ala7Ser Uncertain significance Single submitter
- FARSA p.Ala7Val Uncertain significance Single submitter
- FARSA p.Arg114Gln Uncertain significance Single submitter
- FARSA p.Arg138Gln Uncertain significance Single submitter
- FARSA p.Arg139Gln Uncertain significance Single submitter
- FARSA p.Arg139Trp Uncertain significance Single submitter
- FARSA p.Arg203Gln Uncertain significance Single submitter
- FARSA p.Arg205Gln Uncertain significance Single submitter
- FARSA p.Arg280Gln Uncertain significance Single submitter
- FARSA p.Arg280Pro Uncertain significance Single submitter
- FARSA p.Arg82Gln Uncertain significance Single submitter
- FARSA p.Asp130Asn Uncertain significance Single submitter
- FARSA p.Gln236Glu Uncertain significance Single submitter
- FARSA p.Gln505Glu Uncertain significance Single submitter
- FARSA p.Glu135Asp Uncertain significance Single submitter
-
FARSA p.Glu245Lys
Uncertain significance
Single submitter
Rajab interstitial lung disease with brain calcifications 2
- FARSA p.Glu52Lys Uncertain significance Single submitter
- FARSA p.Gly145Arg Uncertain significance Single submitter
- FARSA p.Gly145Val Uncertain significance Single submitter
- FARSA p.Gly31Asp Uncertain significance Single submitter
- FARSA p.Gly4Ser Uncertain significance Single submitter
- FARSA p.His223Tyr Uncertain significance Single submitter
- FARSA p.Ile353Val Uncertain significance Single submitter
- FARSA p.Leu218Arg Uncertain significance Single submitter
- FARSA p.Leu286Pro Uncertain significance Single submitter
- FARSA p.Leu316Pro Uncertain significance Single submitter
- FARSA p.Leu336Pro Uncertain significance Single submitter
- FARSA p.Leu9Met Uncertain significance Single submitter
- FARSA p.Lys311Met Uncertain significance Single submitter
- FARSA p.Lys468Arg Uncertain significance Single submitter
- FARSA p.Met132Thr Uncertain significance Single submitter
- FARSA p.Met290Val Uncertain significance Single submitter
- FARSA p.Met442Thr Uncertain significance Single submitter
- FARSA p.Phe345Ser Uncertain significance Single submitter
- FARSA p.Ser184Asn Uncertain significance Single submitter
- FARSA p.Ser255Tyr Uncertain significance Single submitter
- FARSA p.Ser460Phe Uncertain significance Single submitter
- FARSA p.Thr465Met Uncertain significance Single submitter
- FARSA p.Tyr422Asp Uncertain significance Single submitter
- FARSA p.Val175Leu Uncertain significance Single submitter
- FARSA p.Val356Ala Uncertain significance Single submitter
- FARSA p.Val38Met Uncertain significance Single submitter
- FARSA p.Val482Met Uncertain significance Single submitter
Predictors split 22
The independent predictors disagree with each other — read with care.
- FARSA p.Arg338Cys Uncertain significance Multiple submitters
-
FARSA p.Gly306Ser
Uncertain significance
Multiple submitters
Rajab interstitial lung disease with brain calcifications 2
- FARSA p.Ala283Val Uncertain significance Single submitter
- FARSA p.Arg12Trp Uncertain significance Single submitter
- FARSA p.Arg138Trp Uncertain significance Single submitter
- FARSA p.Arg144Pro Uncertain significance Single submitter
- FARSA p.Arg144Trp Uncertain significance Single submitter
- FARSA p.Arg203Trp Uncertain significance Single submitter
- FARSA p.Arg205Trp Likely benign Single submitter
- FARSA p.Arg295Gln Uncertain significance Single submitter
- FARSA p.Arg298Trp Uncertain significance Single submitter
-
FARSA p.Arg404His
Uncertain significance
Single submitter
Rajab interstitial lung disease with brain calcifications 2
- FARSA p.Arg72Trp Uncertain significance Single submitter
- FARSA p.Asp22Ala Uncertain significance Single submitter
- FARSA p.Glu155Lys Uncertain significance Single submitter
- FARSA p.Glu54Lys Uncertain significance Single submitter
- FARSA p.Glu62Lys Uncertain significance Single submitter
- FARSA p.Ile252Thr Uncertain significance Single submitter
- FARSA p.Pro247Leu Uncertain significance Single submitter
- FARSA p.Pro289Ser Uncertain significance Single submitter
- FARSA p.Ser57Phe Uncertain significance Single submitter
- FARSA p.Thr401Met Uncertain significance Single submitter
All FARSA variants
Pathogenic 3
- p.Arg271His Single submitter Rajab interstitial lung disease with brain calcifications 2
- p.Phe256Leu Single submitter Rajab interstitial lung disease with brain calcifications 2
- p.Asn410Lys No assertion criteria Rajab interstitial lung disease with brain calcifications 2
Likely pathogenic 1
- p.Pro347Leu Multiple submitters FARSA-related disorder
Conflicting classifications of pathogenicity 1
- p.Gln137Lys Single submitter ⚠
Benign 7
- c.1027-17T>C Multiple submitters
- c.926+15dup Single submitter
- p.Ala283= No assertion criteria FARSA-related disorder
- p.Gln341Arg No assertion criteria FARSA-related disorder
- p.Ile471Thr No assertion criteria FARSA-related disorder
- p.Pro449= No assertion criteria FARSA-related disorder
- p.Val376Leu No assertion criteria FARSA-related disorder
Likely benign 12
- c.148-20del Single submitter
- p.Ala378= Single submitter
- p.Arg144Gln Single submitter
- p.Arg162= Single submitter
- p.Arg205Trp Single submitter ⚠
- p.Asp260= Single submitter
- p.Gln233= Single submitter
- p.Leu192= Single submitter
- p.Thr169= Single submitter
- p.Val377= Single submitter
- p.Arg271= No assertion criteria FARSA-related disorder
- p.Gly375= No assertion criteria FARSA-related disorder
Uncertain significance 75
- p.Arg338Cys Multiple submitters ⚠
- p.Gly306Ser Multiple submitters Rajab interstitial lung disease with brain calcifications 2 ⚠
- p.Ala148Thr Single submitter ⚠
- p.Ala283Val Single submitter ⚠
- p.Ala28Ser Single submitter ⚠
- p.Ala28Val Single submitter ⚠
- p.Ala335Val Single submitter ⚠
- p.Ala340Pro Single submitter ⚠
- p.Ala507Ser Single submitter ⚠
- p.Ala7Ser Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Arg114Gln Single submitter ⚠
- p.Arg12Trp Single submitter ⚠
- p.Arg138Gln Single submitter ⚠
- p.Arg138Trp Single submitter ⚠
- p.Arg139Gln Single submitter ⚠
- p.Arg139Trp Single submitter ⚠
- p.Arg144Pro Single submitter ⚠
- p.Arg144Trp Single submitter ⚠
- p.Arg203Gln Single submitter ⚠
- p.Arg203Trp Single submitter ⚠
- p.Arg205Gln Single submitter ⚠
- p.Arg280Gln Single submitter ⚠
- p.Arg280Pro Single submitter ⚠
- p.Arg295Gln Single submitter ⚠
- p.Arg298Trp Single submitter ⚠
- p.Arg404His Single submitter Rajab interstitial lung disease with brain calcifications 2 ⚠
- p.Arg72Trp Single submitter ⚠
- p.Arg82Gln Single submitter ⚠
- p.Arg82Ter Single submitter Rajab interstitial lung disease with brain calcifications 2
- p.Asp130Asn Single submitter ⚠
- p.Asp22Ala Single submitter ⚠
- p.Gln236Glu Single submitter ⚠
- p.Gln505Glu Single submitter ⚠
- p.Glu135Asp Single submitter ⚠
- p.Glu155Lys Single submitter ⚠
- p.Glu245Lys Single submitter Rajab interstitial lung disease with brain calcifications 2 ⚠
- p.Glu52Lys Single submitter ⚠
- p.Glu54Lys Single submitter ⚠
- p.Glu62Lys Single submitter ⚠
- p.Gly145Arg Single submitter ⚠
- p.Gly145Val Single submitter ⚠
- p.Gly31Asp Single submitter ⚠
- p.Gly4Ser Single submitter ⚠
- p.His223Tyr Single submitter ⚠
- p.Ile252Thr Single submitter ⚠
- p.Ile353Val Single submitter ⚠
- p.Leu218Arg Single submitter ⚠
- p.Leu286Pro Single submitter ⚠
- p.Leu30= Single submitter
- p.Leu316Pro Single submitter ⚠
- p.Leu336Pro Single submitter ⚠
- p.Leu9Met Single submitter ⚠
- p.Lys311Met Single submitter ⚠
- p.Lys468Arg Single submitter ⚠
- p.Met132Thr Single submitter ⚠
- p.Met290Val Single submitter ⚠
- p.Met442Thr Single submitter ⚠
- p.Met446Val Single submitter
- p.Met95Thr Single submitter
- p.Phe345Ser Single submitter ⚠
- p.Pro247Leu Single submitter ⚠
- p.Pro289Ser Single submitter ⚠
- p.Ser184Asn Single submitter ⚠
- p.Ser23Gly Single submitter
- p.Ser255Tyr Single submitter ⚠
- p.Ser460Phe Single submitter ⚠
- p.Ser57Phe Single submitter ⚠
- p.Thr401Met Single submitter ⚠
- p.Thr465Met Single submitter ⚠
- p.Tyr422Asp Single submitter ⚠
- p.Val175Leu Single submitter ⚠
- p.Val356Ala Single submitter ⚠
- p.Val38Met Single submitter ⚠
- p.Val482Met Single submitter ⚠