RXFP2 — 129 ClinVar variants
All ClinVar germline RXFP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 1 Conflicting · 34 Benign · 9 Likely benign · 83 Uncertain significance
Full RXFP2 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 50
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
RXFP2 p.Ile476Val
Uncertain significance
Multiple submitters
RXFP2-related disorder
- RXFP2 p.Ala486Asp Uncertain significance Single submitter
- RXFP2 p.Ala502Val Uncertain significance Single submitter
- RXFP2 p.Ala635Ser Uncertain significance Single submitter
- RXFP2 p.Ala75Ser Uncertain significance Single submitter
- RXFP2 p.Ala87Val Uncertain significance Single submitter
- RXFP2 p.Ala97Val Uncertain significance Single submitter
- RXFP2 p.Arg14Thr Uncertain significance Single submitter
- RXFP2 p.Arg268Lys Uncertain significance Single submitter
- RXFP2 p.Arg371Gln Uncertain significance Single submitter
-
RXFP2 p.Arg397Gln
Uncertain significance
Single submitter
RXFP2-related disorder
- RXFP2 p.Arg496His Uncertain significance Single submitter
- RXFP2 p.Arg61Gln Uncertain significance Single submitter
- RXFP2 p.Asn433Ser Uncertain significance Single submitter
- RXFP2 p.Asn687Ile Uncertain significance Single submitter
- RXFP2 p.Asp116Asn Uncertain significance Single submitter
- RXFP2 p.Asp76Gly Uncertain significance Single submitter
- RXFP2 p.Cys185Arg Uncertain significance Single submitter
- RXFP2 p.Cys253Tyr Uncertain significance Single submitter
- RXFP2 p.Cys459Tyr Uncertain significance Single submitter
- RXFP2 p.Cys45Arg Uncertain significance Single submitter
- RXFP2 p.Gln188Lys Uncertain significance Single submitter
- RXFP2 p.Gln37Pro Uncertain significance Single submitter
- RXFP2 p.Glu730Lys Uncertain significance Single submitter
- RXFP2 p.His209Arg Uncertain significance Single submitter
- RXFP2 p.His209Gln Uncertain significance Single submitter
- RXFP2 p.His345Gln Uncertain significance Single submitter
- RXFP2 p.His9Gln Uncertain significance Single submitter
- RXFP2 p.Ile16Thr Uncertain significance Single submitter
- RXFP2 p.Ile25Val Uncertain significance Single submitter
- RXFP2 p.Leu576Arg Uncertain significance Single submitter
- RXFP2 p.Lys165Met Uncertain significance Single submitter
- RXFP2 p.Lys712Gln Uncertain significance Single submitter
- RXFP2 p.Met252Val Uncertain significance Single submitter
- RXFP2 p.Met342Thr Uncertain significance Single submitter
- RXFP2 p.Met40Val Uncertain significance Single submitter
- RXFP2 p.Met503Thr Uncertain significance Single submitter
- RXFP2 p.Phe663Cys Uncertain significance Single submitter
- RXFP2 p.Phe697Leu Uncertain significance Single submitter
- RXFP2 p.Pro322Ser Uncertain significance Single submitter
- RXFP2 p.Pro394Ser Uncertain significance Single submitter
- RXFP2 p.Ser225Thr Uncertain significance Single submitter
- RXFP2 p.Ser84Asn Uncertain significance Single submitter
- RXFP2 p.Thr212Asn Uncertain significance Single submitter
- RXFP2 p.Thr42Ile Uncertain significance Single submitter
- RXFP2 p.Thr692Ile Uncertain significance Single submitter
- RXFP2 p.Val26Phe Uncertain significance Single submitter
- RXFP2 p.Val493Met Uncertain significance Single submitter
- RXFP2 p.Val654Ala Uncertain significance Single submitter
- RXFP2 p.Val753Ile Uncertain significance Single submitter
Predictors split 36
The independent predictors disagree with each other — read with care.
- RXFP2 p.Arg290Thr Uncertain significance Single submitter
- RXFP2 p.Arg479Gln Uncertain significance Single submitter
- RXFP2 p.Arg496Cys Uncertain significance Single submitter
- RXFP2 p.Arg664Trp Uncertain significance Single submitter
- RXFP2 p.Asn138Lys Uncertain significance Single submitter
- RXFP2 p.Asn306His Uncertain significance Single submitter
- RXFP2 p.Asn79Lys Uncertain significance Single submitter
- RXFP2 p.Glu265Gly Uncertain significance Single submitter
- RXFP2 p.Glu364Lys Uncertain significance Single submitter
- RXFP2 p.Gly405Ser Uncertain significance Single submitter
- RXFP2 p.Gly53Glu Uncertain significance Single submitter
- RXFP2 p.Gly72Glu Uncertain significance Single submitter
- RXFP2 p.Gly74Arg Uncertain significance Single submitter
- RXFP2 p.Ile197Val Uncertain significance Single submitter
- RXFP2 p.Ile224Val Uncertain significance Single submitter
- RXFP2 p.Ile541Thr Likely benign Single submitter
- RXFP2 p.Leu35Pro Uncertain significance Single submitter
- RXFP2 p.Leu418Phe Uncertain significance Single submitter
- RXFP2 p.Leu576Phe Uncertain significance Single submitter
- RXFP2 p.Phe167Leu Uncertain significance Single submitter
- RXFP2 p.Phe20Cys Uncertain significance Single submitter
- RXFP2 p.Phe237Leu Uncertain significance Single submitter
- RXFP2 p.Phe613Leu Uncertain significance Single submitter
- RXFP2 p.Ser313Cys Uncertain significance Single submitter
- RXFP2 p.Ser453Phe Uncertain significance Single submitter
- RXFP2 p.Ser529Gly Uncertain significance Single submitter
- RXFP2 p.Ser673Phe Uncertain significance Single submitter
-
RXFP2 p.Thr222Pro
Conflicting
Single submitter
cryptorchidism
- RXFP2 p.Thr318Met Likely benign Single submitter
- RXFP2 p.Thr36Pro Uncertain significance Single submitter
- RXFP2 p.Thr403Met Uncertain significance Single submitter
- RXFP2 p.Thr538Asn Uncertain significance Single submitter
- RXFP2 p.Tyr383Cys Uncertain significance Single submitter
- RXFP2 p.Val139Ala Uncertain significance Single submitter
- RXFP2 p.Val572Ile Uncertain significance Single submitter
-
RXFP2 p.Ala635Val
Uncertain significance
No assertion criteria
disorder of sexual differentiation
All RXFP2 variants
Pathogenic 1
- p.Phe469fs Single submitter Bilateral cryptorchidism
Likely pathogenic 1
- p.Asn339Asp Single submitter Bilateral cryptorchidism
Conflicting classifications of pathogenicity 1
- p.Thr222Pro Single submitter cryptorchidism ⚠
Benign 34
- c.1074-42T>C Multiple submitters
- c.2005+95T>C Multiple submitters
- c.241+15C>T Multiple submitters
- c.242-21A>T Multiple submitters
- c.319+102C>T Multiple submitters
- c.425+103C>T Multiple submitters
- c.569+159C>T Multiple submitters
- c.569+189A>G Multiple submitters
- c.569+31T>C Multiple submitters
- c.95-103C>G Multiple submitters
- c.*176A>G Multiple submitters
- p.Ala87= Multiple submitters
- p.Glu319= Multiple submitters
- p.Ile604Val Multiple submitters
- p.Leu331= Multiple submitters
- c.1002-3_1002-2dup Single submitter
- c.1002-4_1002-2dup Single submitter
- c.1145+8T>C Single submitter
- c.2006-284dup Single submitter
- c.241+120T>C Single submitter
- c.241+139T>C Single submitter
- c.320-162G>A Single submitter
- c.320-328_320-325del Single submitter
- c.425+186T>G Single submitter
- c.425+282T>C Single submitter
- c.425+301del Single submitter
- c.498-184T>C Single submitter
- c.786-115_786-114insC Single submitter
- c.786-222G>A Single submitter
- c.929+199A>G Single submitter
- c.930-171C>T Single submitter
- c.930-241T>G Single submitter
- c.95-178G>A Single submitter
- c.95-283T>C Single submitter
Likely benign 9
- p.Ala548Val Single submitter
- p.Ala620Thr Single submitter
- p.Asn260Ser Single submitter
- p.Asp281Asn Single submitter
- p.Cys196Arg Single submitter
- p.Ile541Thr Single submitter ⚠
- p.Leu264= Single submitter
- p.Thr318Met Single submitter ⚠
- p.Val657Ile Single submitter
Uncertain significance 83
- p.Ile476Val Multiple submitters RXFP2-related disorder ⚠
- p.Ala486Asp Single submitter ⚠
- p.Ala502Val Single submitter ⚠
- p.Ala635Ser Single submitter ⚠
- p.Ala75Ser Single submitter ⚠
- p.Ala87Val Single submitter ⚠
- p.Ala97Val Single submitter ⚠
- p.Arg14Thr Single submitter ⚠
- p.Arg268Lys Single submitter ⚠
- p.Arg290Thr Single submitter ⚠
- p.Arg371Gln Single submitter ⚠
- p.Arg397Gln Single submitter RXFP2-related disorder ⚠
- p.Arg479Gln Single submitter ⚠
- p.Arg496Cys Single submitter ⚠
- p.Arg496His Single submitter ⚠
- p.Arg61Gln Single submitter ⚠
- p.Arg664Trp Single submitter ⚠
- p.Asn138Lys Single submitter ⚠
- p.Asn306His Single submitter ⚠
- p.Asn433Ser Single submitter ⚠
- p.Asn687Ile Single submitter ⚠
- p.Asn79Lys Single submitter ⚠
- p.Asp116Asn Single submitter ⚠
- p.Asp76Gly Single submitter ⚠
- p.Cys185Arg Single submitter ⚠
- p.Cys253Tyr Single submitter ⚠
- p.Cys459Tyr Single submitter ⚠
- p.Cys45Arg Single submitter ⚠
- p.Gln188Lys Single submitter ⚠
- p.Gln37Pro Single submitter ⚠
- p.Glu265Gly Single submitter ⚠
- p.Glu364Lys Single submitter ⚠
- p.Glu730Lys Single submitter ⚠
- p.Gly405Ser Single submitter ⚠
- p.Gly53Glu Single submitter ⚠
- p.Gly72Glu Single submitter ⚠
- p.Gly74Arg Single submitter ⚠
- p.His209Arg Single submitter ⚠
- p.His209Gln Single submitter ⚠
- p.His345Gln Single submitter ⚠
- p.His9Gln Single submitter ⚠
- p.Ile16Thr Single submitter ⚠
- p.Ile197Val Single submitter ⚠
- p.Ile224Val Single submitter ⚠
- p.Ile25Val Single submitter ⚠
- p.Leu35Pro Single submitter ⚠
- p.Leu418Phe Single submitter ⚠
- p.Leu576Arg Single submitter ⚠
- p.Leu576Phe Single submitter ⚠
- p.Lys165Met Single submitter ⚠
- p.Lys712Gln Single submitter ⚠
- p.Met252Val Single submitter ⚠
- p.Met342Thr Single submitter ⚠
- p.Met40Val Single submitter ⚠
- p.Met503Thr Single submitter ⚠
- p.Phe167Leu Single submitter ⚠
- p.Phe20Cys Single submitter ⚠
- p.Phe237Leu Single submitter ⚠
- p.Phe613Leu Single submitter ⚠
- p.Phe663Cys Single submitter ⚠
- p.Phe697Leu Single submitter ⚠
- p.Pro322Ser Single submitter ⚠
- p.Pro394Ser Single submitter ⚠
- p.Ser225Thr Single submitter ⚠
- p.Ser313Cys Single submitter ⚠
- p.Ser453Phe Single submitter ⚠
- p.Ser529Gly Single submitter ⚠
- p.Ser673Phe Single submitter ⚠
- p.Ser84Asn Single submitter ⚠
- p.Thr212Asn Single submitter ⚠
- p.Thr36Pro Single submitter ⚠
- p.Thr403Met Single submitter ⚠
- p.Thr42Ile Single submitter ⚠
- p.Thr538Asn Single submitter ⚠
- p.Thr692Ile Single submitter ⚠
- p.Tyr383Cys Single submitter ⚠
- p.Val139Ala Single submitter ⚠
- p.Val26Phe Single submitter ⚠
- p.Val493Met Single submitter ⚠
- p.Val572Ile Single submitter ⚠
- p.Val654Ala Single submitter ⚠
- p.Val753Ile Single submitter ⚠
- p.Ala635Val No assertion criteria disorder of sexual differentiation ⚠