GFRA1 — 78 ClinVar variants
All ClinVar germline GFRA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 45 flagged for review →
3 Pathogenic · 1 Likely pathogenic · 6 Benign · 1 Benign/Likely benign · 15 Likely benign · 52 Uncertain significance
Full GFRA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 45
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 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GFRA1 p.Arg224Gln Uncertain significance Multiple submitters
- GFRA1 p.Ala261Val Uncertain significance Single submitter
- GFRA1 p.Ala283Thr Uncertain significance Single submitter
- GFRA1 p.Ala454Thr Uncertain significance Single submitter
- GFRA1 p.Arg190Cys Uncertain significance Single submitter
- GFRA1 p.Arg259His Uncertain significance Single submitter
- GFRA1 p.Asn184Ser Uncertain significance Single submitter
- GFRA1 p.Asn242Ser Uncertain significance Single submitter
- GFRA1 p.Asn406Thr Uncertain significance Single submitter
- GFRA1 p.Asn417Ser Uncertain significance Single submitter
- GFRA1 p.Asn59Asp Uncertain significance Single submitter
- GFRA1 p.Asn86Ser Uncertain significance Single submitter
- GFRA1 p.Asp118Val Uncertain significance Single submitter
- GFRA1 p.Asp164Asn Uncertain significance Single submitter
- GFRA1 p.Glu67Gly Uncertain significance Single submitter
- GFRA1 p.Gly24Arg Uncertain significance Single submitter
- GFRA1 p.Gly346Asp Uncertain significance Single submitter
- GFRA1 p.Gly348Ser Uncertain significance Single submitter
- GFRA1 p.Gly382Ala Uncertain significance Single submitter
- GFRA1 p.His207Arg Uncertain significance Single submitter
- GFRA1 p.His390Gln Uncertain significance Single submitter
- GFRA1 p.His430Arg Uncertain significance Single submitter
-
GFRA1 p.Ile342Val
Uncertain significance
Single submitter
renal hypodysplasia/aplasia 4
- GFRA1 p.Leu403Gln Uncertain significance Single submitter
- GFRA1 p.Lys94Asn Uncertain significance Single submitter
- GFRA1 p.Met436Ile Uncertain significance Single submitter
- GFRA1 p.Ser109Asn Uncertain significance Single submitter
- GFRA1 p.Ser109Gly Uncertain significance Single submitter
- GFRA1 p.Ser275Gly Uncertain significance Single submitter
- GFRA1 p.Ser429Asn Uncertain significance Single submitter
- GFRA1 p.Ser460Tyr Uncertain significance Single submitter
- GFRA1 p.Thr252Ala Uncertain significance Single submitter
- GFRA1 p.Thr389Ile Uncertain significance Single submitter
-
GFRA1 p.Tyr121Cys
Uncertain significance
Single submitter
renal hypodysplasia/aplasia 4
- GFRA1 p.Val134Met Uncertain significance Single submitter
- GFRA1 p.Val145Leu Uncertain significance Single submitter
- GFRA1 p.Val230Met Uncertain significance Single submitter
- GFRA1 p.Val232Met Uncertain significance Single submitter
- GFRA1 p.Val353Met Uncertain significance Single submitter
- GFRA1 p.Val360Ile Uncertain significance Single submitter
-
GFRA1 p.Leu260Pro
Uncertain significance
No assertion criteria
Hirschsprung disease, susceptibility to, 1
Predictors split 4
The independent predictors disagree with each other — read with care.
All GFRA1 variants
Pathogenic 3
- p.Thr265fs Single submitter
- p.Gly210Ter No assertion criteria renal hypodysplasia/aplasia 4
- p.Thr432fs No assertion criteria renal hypodysplasia/aplasia 4
Likely pathogenic 1
- p.Arg226Ter Single submitter renal hypodysplasia/aplasia 4
Benign 6
- p.Asp14Ala Multiple submitters
- p.Tyr85Asn Single submitter
- p.Asn184= No assertion criteria GFRA1-related disorder
- p.Asp334= No assertion criteria GFRA1-related disorder
- p.Lys94= No assertion criteria GFRA1-related disorder
- p.Thr366Ala No assertion criteria GFRA1-related disorder
Benign/Likely benign 1
- p.Ser249= Multiple submitters
Likely benign 15
- p.Leu448= Multiple submitters
- c.1197+12G>A Single submitter
- p.Ala173= Single submitter
- p.Asn410Ser Single submitter
- p.Cys277= Single submitter
- p.His390= Single submitter
- p.Leu287= Single submitter
- p.Lys150= Single submitter
- c.1251+8T>G No assertion criteria GFRA1-related disorder
- c.41-6C>A No assertion criteria GFRA1-related disorder
- c.770+5G>T No assertion criteria GFRA1-related disorder
- c.880+9C>T No assertion criteria GFRA1-related disorder
- p.Arg217Gln No assertion criteria GFRA1-related disorder
- p.Thr252Met No assertion criteria GFRA1-related disorder
- p.Thr464= No assertion criteria GFRA1-related disorder
Uncertain significance 52
- p.Arg224Gln Multiple submitters ⚠
- p.Ala220Thr Single submitter
- p.Ala261Val Single submitter ⚠
- p.Ala283Asp Single submitter ⚠
- p.Ala283Thr Single submitter ⚠
- p.Ala454Thr Single submitter ⚠
- p.Arg190Cys Single submitter ⚠
- p.Arg259His Single submitter ⚠
- p.Asn184Ser Single submitter ⚠
- p.Asn188Thr Single submitter
- p.Asn242Ser Single submitter ⚠
- p.Asn406Thr Single submitter ⚠
- p.Asn417Ser Single submitter ⚠
- p.Asn59Asp Single submitter ⚠
- p.Asn86Ser Single submitter ⚠
- p.Asp118Val Single submitter ⚠
- p.Asp164Asn Single submitter ⚠
- p.Gln268His Single submitter
- p.Glu270Gly Single submitter
- p.Glu67Gly Single submitter ⚠
- p.Gly24Arg Single submitter ⚠
- p.Gly346Asp Single submitter ⚠
- p.Gly348Ser Single submitter ⚠
- p.Gly382Ala Single submitter ⚠
- p.His207Arg Single submitter ⚠
- p.His390Gln Single submitter ⚠
- p.His430Arg Single submitter ⚠
- p.Ile342Val Single submitter renal hypodysplasia/aplasia 4 ⚠
- p.Leu13Trp Single submitter ⚠
- p.Leu403Gln Single submitter ⚠
- p.Lys94Asn Single submitter ⚠
- p.Met211Ile Single submitter ⚠
- p.Met436Ile Single submitter ⚠
- p.Pro204Ser Single submitter
- p.Ser109Asn Single submitter ⚠
- p.Ser109Gly Single submitter ⚠
- p.Ser275Gly Single submitter ⚠
- p.Ser349Cys Single submitter ⚠
- p.Ser429Asn Single submitter ⚠
- p.Ser460Tyr Single submitter ⚠
- p.Ser83Trp Single submitter
- p.Thr252Ala Single submitter ⚠
- p.Thr389Ile Single submitter ⚠
- p.Tyr121Cys Single submitter renal hypodysplasia/aplasia 4 ⚠
- p.Val134Met Single submitter ⚠
- p.Val145Leu Single submitter ⚠
- p.Val230Met Single submitter ⚠
- p.Val232Met Single submitter ⚠
- p.Val353Met Single submitter ⚠
- p.Val360Ile Single submitter ⚠
- p.Leu260Pro No assertion criteria Hirschsprung disease, susceptibility to, 1 ⚠
- p.Met1Leu No assertion criteria Hirschsprung disease