RXFP1 — 97 ClinVar variants
All ClinVar germline RXFP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →
3 Likely benign · 94 Uncertain significance
Full RXFP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 86
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 70
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RXFP1 p.Ala576Ser Uncertain significance Single submitter
- RXFP1 p.Ala613Glu Uncertain significance Single submitter
- RXFP1 p.Arg119Gln Uncertain significance Single submitter
- RXFP1 p.Arg212Gln Uncertain significance Single submitter
- RXFP1 p.Arg236Ser Uncertain significance Single submitter
- RXFP1 p.Arg469Gly Uncertain significance Single submitter
- RXFP1 p.Arg469His Uncertain significance Single submitter
- RXFP1 p.Arg527Thr Uncertain significance Single submitter
- RXFP1 p.Asn284Ser Uncertain significance Single submitter
- RXFP1 p.Asn325Asp Uncertain significance Single submitter
- RXFP1 p.Asn357Asp Uncertain significance Single submitter
- RXFP1 p.Asn618Ser Uncertain significance Single submitter
- RXFP1 p.Asp58Tyr Uncertain significance Single submitter
- RXFP1 p.Asp736Asn Uncertain significance Single submitter
- RXFP1 p.Cys243Arg Uncertain significance Single submitter
- RXFP1 p.Cys513Gly Uncertain significance Single submitter
- RXFP1 p.Gln103Pro Uncertain significance Single submitter
- RXFP1 p.Gln23Glu Uncertain significance Single submitter
- RXFP1 p.Gln654His Uncertain significance Single submitter
- RXFP1 p.Glu195Lys Uncertain significance Single submitter
- RXFP1 p.Glu59Gly Uncertain significance Single submitter
- RXFP1 p.His245Arg Uncertain significance Single submitter
- RXFP1 p.His260Leu Uncertain significance Single submitter
- RXFP1 p.His475Gln Uncertain significance Single submitter
- RXFP1 p.His567Asp Uncertain significance Single submitter
- RXFP1 p.Ile10Phe Uncertain significance Single submitter
- RXFP1 p.Ile355Thr Uncertain significance Single submitter
- RXFP1 p.Ile512Met Uncertain significance Single submitter
- RXFP1 p.Ile512Val Uncertain significance Single submitter
- RXFP1 p.Ile574Val Uncertain significance Single submitter
- RXFP1 p.Ile578Phe Uncertain significance Single submitter
- RXFP1 p.Ile669Phe Uncertain significance Single submitter
- RXFP1 p.Ile672Val Uncertain significance Single submitter
- RXFP1 p.Leu137Phe Uncertain significance Single submitter
- RXFP1 p.Leu234Pro Uncertain significance Single submitter
- RXFP1 p.Leu96Trp Uncertain significance Single submitter
- RXFP1 p.Met367Lys Uncertain significance Single submitter
- RXFP1 p.Met429Ile Uncertain significance Single submitter
- RXFP1 p.Met480Leu Uncertain significance Single submitter
- RXFP1 p.Met624Thr Uncertain significance Single submitter
- RXFP1 p.Met705Thr Uncertain significance Single submitter
- RXFP1 p.Met722Leu Uncertain significance Single submitter
- RXFP1 p.Phe738Leu Uncertain significance Single submitter
- RXFP1 p.Pro216Ser Uncertain significance Single submitter
- RXFP1 p.Pro312Leu Uncertain significance Single submitter
- RXFP1 p.Pro312Ser Uncertain significance Single submitter
- RXFP1 p.Pro715Ala Uncertain significance Single submitter
- RXFP1 p.Pro735Ala Uncertain significance Single submitter
- RXFP1 p.Pro735Leu Uncertain significance Single submitter
- RXFP1 p.Ser405Asn Uncertain significance Single submitter
- RXFP1 p.Ser78Arg Uncertain significance Single submitter
- RXFP1 p.Thr187Ser Uncertain significance Single submitter
- RXFP1 p.Thr507Ser Uncertain significance Single submitter
- RXFP1 p.Thr751Ala Uncertain significance Single submitter
- RXFP1 p.Thr751Met Uncertain significance Single submitter
- RXFP1 p.Trp719Arg Uncertain significance Single submitter
- RXFP1 p.Tyr557Cys Uncertain significance Single submitter
- RXFP1 p.Tyr80Asn Uncertain significance Single submitter
- RXFP1 p.Tyr80Cys Uncertain significance Single submitter
- RXFP1 p.Val233Asp Uncertain significance Single submitter
- RXFP1 p.Val233Ile Uncertain significance Single submitter
- RXFP1 p.Val233Phe Uncertain significance Single submitter
- RXFP1 p.Val386Ile Uncertain significance Single submitter
- RXFP1 p.Val460Leu Uncertain significance Single submitter
- RXFP1 p.Val460Met Uncertain significance Single submitter
- RXFP1 p.Val488Leu Uncertain significance Single submitter
- RXFP1 p.Val542Ala Uncertain significance Single submitter
- RXFP1 p.Val596Ile Uncertain significance Single submitter
- RXFP1 p.Val646Ala Uncertain significance Single submitter
- RXFP1 p.Val665Ala Uncertain significance Single submitter
Predictors split 16
The independent predictors disagree with each other — read with care.
- RXFP1 p.Ala120Pro Uncertain significance Single submitter
- RXFP1 p.Arg617Trp Uncertain significance Single submitter
- RXFP1 p.Arg629Cys Uncertain significance Single submitter
- RXFP1 p.Arg629His Uncertain significance Single submitter
- RXFP1 p.Asp52Asn Uncertain significance Single submitter
- RXFP1 p.Gly98Ser Likely benign Single submitter
- RXFP1 p.Gly98Val Uncertain significance Single submitter
- RXFP1 p.Leu141Val Uncertain significance Single submitter
- RXFP1 p.Leu286Phe Uncertain significance Single submitter
- RXFP1 p.Leu348Phe Uncertain significance Single submitter
- RXFP1 p.Met246Ile Uncertain significance Single submitter
- RXFP1 p.Phe374Tyr Uncertain significance Single submitter
- RXFP1 p.Phe377Val Uncertain significance Single submitter
- RXFP1 p.Ser132Leu Uncertain significance Single submitter
- RXFP1 p.Thr393Ala Uncertain significance Single submitter
- RXFP1 p.Trp68Cys Uncertain significance Single submitter
All RXFP1 variants
Likely benign 3
- p.Arg694Gln Single submitter
- p.Gly98Ser Single submitter ⚠
- p.Leu683= Single submitter
Uncertain significance 94
- p.Ala120Pro Single submitter ⚠
- p.Ala576Ser Single submitter ⚠
- p.Ala613Glu Single submitter ⚠
- p.Arg119Gln Single submitter ⚠
- p.Arg212Gln Single submitter ⚠
- p.Arg236Ser Single submitter ⚠
- p.Arg469Gly Single submitter ⚠
- p.Arg469His Single submitter ⚠
- p.Arg469Leu Single submitter
- p.Arg527Thr Single submitter ⚠
- p.Arg617Trp Single submitter ⚠
- p.Arg629Cys Single submitter ⚠
- p.Arg629His Single submitter ⚠
- p.Asn284Ser Single submitter ⚠
- p.Asn305Ser Single submitter
- p.Asn325Asp Single submitter ⚠
- p.Asn357Asp Single submitter ⚠
- p.Asn473Asp Single submitter
- p.Asn618Ser Single submitter ⚠
- p.Asp340Tyr Single submitter
- p.Asp52Asn Single submitter ⚠
- p.Asp58Tyr Single submitter ⚠
- p.Asp736Asn Single submitter ⚠
- p.Cys243Arg Single submitter ⚠
- p.Cys513Gly Single submitter ⚠
- p.Gln103Pro Single submitter ⚠
- p.Gln23Glu Single submitter ⚠
- p.Gln654His Single submitter ⚠
- p.Glu195Lys Single submitter ⚠
- p.Glu59Gly Single submitter ⚠
- p.Gly98Val Single submitter ⚠
- p.His245Arg Single submitter ⚠
- p.His260Leu Single submitter ⚠
- p.His475Gln Single submitter ⚠
- p.His567Asp Single submitter ⚠
- p.Ile10Phe Single submitter ⚠
- p.Ile355Thr Single submitter ⚠
- p.Ile512Met Single submitter ⚠
- p.Ile512Val Single submitter ⚠
- p.Ile574Val Single submitter ⚠
- p.Ile578Phe Single submitter ⚠
- p.Ile669Phe Single submitter ⚠
- p.Ile672Val Single submitter ⚠
- p.Leu137Phe Single submitter ⚠
- p.Leu141Val Single submitter ⚠
- p.Leu234Pro Single submitter ⚠
- p.Leu286Phe Single submitter ⚠
- p.Leu348Phe Single submitter ⚠
- p.Leu680Phe Single submitter
- p.Leu96Trp Single submitter ⚠
- p.Met246Ile Single submitter ⚠
- p.Met362Thr Single submitter
- p.Met367Lys Single submitter ⚠
- p.Met429Ile Single submitter ⚠
- p.Met480Leu Single submitter ⚠
- p.Met624Thr Single submitter ⚠
- p.Met705Thr Single submitter ⚠
- p.Met722Leu Single submitter ⚠
- p.Phe374Tyr Single submitter ⚠
- p.Phe377Val Single submitter ⚠
- p.Phe738Leu Single submitter ⚠
- p.Pro216Ser Single submitter ⚠
- p.Pro312Leu Single submitter ⚠
- p.Pro312Ser Single submitter ⚠
- p.Pro384Ser Single submitter
- p.Pro715Ala Single submitter ⚠
- p.Pro735Ala Single submitter ⚠
- p.Pro735Leu Single submitter ⚠
- p.Ser132Leu Single submitter ⚠
- p.Ser405Asn Single submitter ⚠
- p.Ser78Arg Single submitter ⚠
- p.Thr187Ser Single submitter ⚠
- p.Thr393Ala Single submitter ⚠
- p.Thr507Ser Single submitter ⚠
- p.Thr751Ala Single submitter ⚠
- p.Thr751Met Single submitter ⚠
- p.Trp68Cys Single submitter ⚠
- p.Trp719Arg Single submitter ⚠
- p.Tyr149Asp Single submitter
- p.Tyr557Cys Single submitter ⚠
- p.Tyr80Asn Single submitter ⚠
- p.Tyr80Cys Single submitter ⚠
- p.Val233Asp Single submitter ⚠
- p.Val233Ile Single submitter ⚠
- p.Val233Phe Single submitter ⚠
- p.Val386Ile Single submitter ⚠
- p.Val415Leu Single submitter
- p.Val460Leu Single submitter ⚠
- p.Val460Met Single submitter ⚠
- p.Val488Leu Single submitter ⚠
- p.Val542Ala Single submitter ⚠
- p.Val596Ile Single submitter ⚠
- p.Val646Ala Single submitter ⚠
- p.Val665Ala Single submitter ⚠