RAPGEF4 — 132 ClinVar variants
All ClinVar germline RAPGEF4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 113 flagged for review →
6 Benign · 5 Likely benign · 121 Uncertain significance
Full RAPGEF4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 113
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 89
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RAPGEF4 p.Ala125Thr Uncertain significance Single submitter
- RAPGEF4 p.Ala13Val Uncertain significance Single submitter
- RAPGEF4 p.Ala17Ser Uncertain significance Single submitter
- RAPGEF4 p.Ala213Thr Uncertain significance Single submitter
- RAPGEF4 p.Ala520Ser Uncertain significance Single submitter
- RAPGEF4 p.Ala552Thr Uncertain significance Single submitter
- RAPGEF4 p.Ala7Val Uncertain significance Single submitter
- RAPGEF4 p.Arg1005Lys Uncertain significance Single submitter
- RAPGEF4 p.Arg255Gln Uncertain significance Single submitter
- RAPGEF4 p.Arg458Lys Uncertain significance Single submitter
- RAPGEF4 p.Arg485Gly Uncertain significance Single submitter
- RAPGEF4 p.Arg517Cys Uncertain significance Single submitter
- RAPGEF4 p.Arg614Gln Uncertain significance Single submitter
- RAPGEF4 p.Arg665Cys Uncertain significance Single submitter
- RAPGEF4 p.Arg665His Uncertain significance Single submitter
- RAPGEF4 p.Arg685Trp Uncertain significance Single submitter
- RAPGEF4 p.Arg840Cys Uncertain significance Single submitter
- RAPGEF4 p.Arg877Leu Uncertain significance Single submitter
- RAPGEF4 p.Arg984Gln Uncertain significance Single submitter
- RAPGEF4 p.Arg984Trp Uncertain significance Single submitter
- RAPGEF4 p.Asn944Ser Uncertain significance Single submitter
- RAPGEF4 p.Asn977Asp Uncertain significance Single submitter
- RAPGEF4 p.Asp275Gly Uncertain significance Single submitter
- RAPGEF4 p.Asp429Val Uncertain significance Single submitter
- RAPGEF4 p.Asp775Ala Uncertain significance Single submitter
- RAPGEF4 p.Gln557His Uncertain significance Single submitter
- RAPGEF4 p.Gln564Arg Uncertain significance Single submitter
- RAPGEF4 p.Gln662His Uncertain significance Single submitter
- RAPGEF4 p.Glu277Ala Uncertain significance Single submitter
- RAPGEF4 p.Glu295Lys Uncertain significance Single submitter
- RAPGEF4 p.Glu719Asp Uncertain significance Single submitter
- RAPGEF4 p.Glu936Lys Uncertain significance Single submitter
- RAPGEF4 p.Gly483Glu Uncertain significance Single submitter
- RAPGEF4 p.Gly666Asp Uncertain significance Single submitter
- RAPGEF4 p.Gly666Ser Uncertain significance Single submitter
- RAPGEF4 p.His359Arg Uncertain significance Single submitter
- RAPGEF4 p.His553Asn Uncertain significance Single submitter
- RAPGEF4 p.His553Gln Uncertain significance Single submitter
- RAPGEF4 p.His8Arg Uncertain significance Single submitter
- RAPGEF4 p.His8Asp Uncertain significance Single submitter
- RAPGEF4 p.His8Tyr Uncertain significance Single submitter
- RAPGEF4 p.Ile138Val Uncertain significance Single submitter
- RAPGEF4 p.Ile33Leu Uncertain significance Single submitter
- RAPGEF4 p.Ile354Val Uncertain significance Single submitter
- RAPGEF4 p.Ile76Val Uncertain significance Single submitter
- RAPGEF4 p.Ile850Val Uncertain significance Single submitter
- RAPGEF4 p.Ile954Thr Uncertain significance Single submitter
- RAPGEF4 p.Leu135Gln Uncertain significance Single submitter
- RAPGEF4 p.Leu38Arg Uncertain significance Single submitter
- RAPGEF4 p.Leu723Pro Uncertain significance Single submitter
- RAPGEF4 p.Leu787His Uncertain significance Single submitter
- RAPGEF4 p.Lys283Arg Uncertain significance Single submitter
- RAPGEF4 p.Lys628Glu Uncertain significance Single submitter
- RAPGEF4 p.Lys660Arg Uncertain significance Single submitter
- RAPGEF4 p.Lys702Arg Uncertain significance Single submitter
- RAPGEF4 p.Lys774Arg Uncertain significance Single submitter
- RAPGEF4 p.Lys939Thr Uncertain significance Single submitter
- RAPGEF4 p.Met599Val Uncertain significance Single submitter
- RAPGEF4 p.Met615Thr Uncertain significance Single submitter
- RAPGEF4 p.Met771Val Uncertain significance Single submitter
- RAPGEF4 p.Pro624Leu Uncertain significance Single submitter
- RAPGEF4 p.Pro725His Uncertain significance Single submitter
- RAPGEF4 p.Pro744Leu Uncertain significance Single submitter
- RAPGEF4 p.Pro925Leu Uncertain significance Single submitter
- RAPGEF4 p.Ser200Thr Uncertain significance Single submitter
- RAPGEF4 p.Ser28Asn Uncertain significance Single submitter
- RAPGEF4 p.Ser610Leu Uncertain significance Single submitter
- RAPGEF4 p.Ser691Leu Uncertain significance Single submitter
- RAPGEF4 p.Ser887Asn Uncertain significance Single submitter
- RAPGEF4 p.Ser985Gly Uncertain significance Single submitter
- RAPGEF4 p.Thr103Ser Uncertain significance Single submitter
- RAPGEF4 p.Thr256Asn Uncertain significance Single submitter
- RAPGEF4 p.Thr256Pro Uncertain significance Single submitter
- RAPGEF4 p.Thr515Ala Uncertain significance Single submitter
- RAPGEF4 p.Thr653Lys Uncertain significance Single submitter
- RAPGEF4 p.Thr653Met Uncertain significance Single submitter
- RAPGEF4 p.Thr735Asn Uncertain significance Single submitter
- RAPGEF4 p.Thr764Ala Uncertain significance Single submitter
- RAPGEF4 p.Thr881Met Uncertain significance Single submitter
- RAPGEF4 p.Tyr909Cys Uncertain significance Single submitter
- RAPGEF4 p.Val383Met Uncertain significance Single submitter
- RAPGEF4 p.Val41Ile Uncertain significance Single submitter
- RAPGEF4 p.Val437Ile Uncertain significance Single submitter
- RAPGEF4 p.Val607Leu Uncertain significance Single submitter
- RAPGEF4 p.Val646Ile Uncertain significance Single submitter
- RAPGEF4 p.Val728Ile Uncertain significance Single submitter
- RAPGEF4 p.Val867Ile Uncertain significance Single submitter
- RAPGEF4 p.Val873Ile Uncertain significance Single submitter
- RAPGEF4 p.Val992Met Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- RAPGEF4 p.Arg123Cys Uncertain significance Single submitter
- RAPGEF4 p.Arg123His Uncertain significance Single submitter
- RAPGEF4 p.Arg137Cys Uncertain significance Single submitter
- RAPGEF4 p.Arg439Gln Uncertain significance Single submitter
- RAPGEF4 p.Arg739His Uncertain significance Single submitter
- RAPGEF4 p.Asn861Ser Uncertain significance Single submitter
- RAPGEF4 p.Cys308Arg Benign Single submitter
- RAPGEF4 p.Glu1007Gln Uncertain significance Single submitter
- RAPGEF4 p.Glu293Lys Uncertain significance Single submitter
- RAPGEF4 p.Glu302Lys Uncertain significance Single submitter
- RAPGEF4 p.Glu746Gly Uncertain significance Single submitter
- RAPGEF4 p.Gly260Ser Uncertain significance Single submitter
- RAPGEF4 p.Leu357Phe Uncertain significance Single submitter
- RAPGEF4 p.Leu844Phe Uncertain significance Single submitter
- RAPGEF4 p.Lys645Asn Uncertain significance Single submitter
- RAPGEF4 p.Phe651Leu Uncertain significance Single submitter
- RAPGEF4 p.Phe923Leu Uncertain significance Single submitter
- RAPGEF4 p.Pro542Ala Uncertain significance Single submitter
- RAPGEF4 p.Pro548Leu Uncertain significance Single submitter
- RAPGEF4 p.Pro558Ala Uncertain significance Single submitter
- RAPGEF4 p.Ser27Cys Uncertain significance Single submitter
- RAPGEF4 p.Thr392Ile Uncertain significance Single submitter
- RAPGEF4 p.Tyr284Cys Uncertain significance Single submitter
- RAPGEF4 p.Val460Leu Uncertain significance Single submitter
All RAPGEF4 variants
Benign 6
- p.Ile516Val Multiple submitters
- p.Pro548= Multiple submitters
- p.Thr231= Multiple submitters
- p.Cys308Arg Single submitter ⚠
- p.Gly706= Single submitter
- p.Ser705= Single submitter
Likely benign 5
- p.Gly706Arg Multiple submitters
- p.Ala639Val Single submitter
- p.Arg952His Single submitter
- p.Leu57= Single submitter
- p.Leu927= Single submitter
Uncertain significance 121
- p.Ala125Thr Single submitter ⚠
- p.Ala13Val Single submitter ⚠
- p.Ala17Ser Single submitter ⚠
- p.Ala213Thr Single submitter ⚠
- p.Ala520Ser Single submitter ⚠
- p.Ala552Thr Single submitter ⚠
- p.Ala7Val Single submitter ⚠
- p.Arg1005Lys Single submitter ⚠
- p.Arg123Cys Single submitter ⚠
- p.Arg123His Single submitter ⚠
- p.Arg137Cys Single submitter ⚠
- p.Arg211Gln Single submitter
- p.Arg255Gln Single submitter ⚠
- p.Arg288Ter Single submitter
- p.Arg439Gln Single submitter ⚠
- p.Arg458Lys Single submitter ⚠
- p.Arg485Gly Single submitter ⚠
- p.Arg517Cys Single submitter ⚠
- p.Arg614Gln Single submitter ⚠
- p.Arg614Trp Single submitter
- p.Arg665Cys Single submitter ⚠
- p.Arg665His Single submitter ⚠
- p.Arg685Trp Single submitter ⚠
- p.Arg739His Single submitter ⚠
- p.Arg840Cys Single submitter ⚠
- p.Arg877Leu Single submitter ⚠
- p.Arg952Cys Single submitter
- p.Arg984Gln Single submitter ⚠
- p.Arg984Trp Single submitter ⚠
- p.Asn861Ser Single submitter ⚠
- p.Asn944Ser Single submitter ⚠
- p.Asn977Asp Single submitter ⚠
- p.Asp275Gly Single submitter ⚠
- p.Asp429Val Single submitter ⚠
- p.Asp668Asn Single submitter
- p.Asp775Ala Single submitter ⚠
- p.Gln557His Single submitter ⚠
- p.Gln557Ter Single submitter
- p.Gln564Arg Single submitter ⚠
- p.Gln662His Single submitter ⚠
- p.Glu1007Gln Single submitter ⚠
- p.Glu277Ala Single submitter ⚠
- p.Glu293Lys Single submitter ⚠
- p.Glu295Lys Single submitter ⚠
- p.Glu302Lys Single submitter ⚠
- p.Glu719Asp Single submitter ⚠
- p.Glu746Gly Single submitter ⚠
- p.Glu936Lys Single submitter ⚠
- p.Gly156Glu Single submitter
- p.Gly260Ser Single submitter ⚠
- p.Gly483Glu Single submitter ⚠
- p.Gly666Asp Single submitter ⚠
- p.Gly666Ser Single submitter ⚠
- p.His359Arg Single submitter ⚠
- p.His553Asn Single submitter ⚠
- p.His553Gln Single submitter ⚠
- p.His8Arg Single submitter ⚠
- p.His8Asp Single submitter ⚠
- p.His8Tyr Single submitter ⚠
- p.Ile138Val Single submitter ⚠
- p.Ile33Leu Single submitter ⚠
- p.Ile354Val Single submitter ⚠
- p.Ile76Val Single submitter ⚠
- p.Ile850Val Single submitter ⚠
- p.Ile954Thr Single submitter ⚠
- p.Leu135Gln Single submitter ⚠
- p.Leu357Phe Single submitter ⚠
- p.Leu38Arg Single submitter ⚠
- p.Leu723Pro Single submitter ⚠
- p.Leu787His Single submitter ⚠
- p.Leu844Phe Single submitter ⚠
- p.Lys283Arg Single submitter ⚠
- p.Lys628Glu Single submitter ⚠
- p.Lys645Asn Single submitter ⚠
- p.Lys660Arg Single submitter ⚠
- p.Lys702Arg Single submitter ⚠
- p.Lys774Arg Single submitter ⚠
- p.Lys939Thr Single submitter ⚠
- p.Met599Val Single submitter ⚠
- p.Met615Thr Single submitter ⚠
- p.Met771Val Single submitter ⚠
- p.Phe651Leu Single submitter ⚠
- p.Phe923Leu Single submitter ⚠
- p.Pro542Ala Single submitter ⚠
- p.Pro548Leu Single submitter ⚠
- p.Pro558Ala Single submitter ⚠
- p.Pro624Leu Single submitter ⚠
- p.Pro725His Single submitter ⚠
- p.Pro744Leu Single submitter ⚠
- p.Pro753His Single submitter
- p.Pro925Leu Single submitter ⚠
- p.Ser200Thr Single submitter ⚠
- p.Ser27Cys Single submitter ⚠
- p.Ser28Asn Single submitter ⚠
- p.Ser610Leu Single submitter ⚠
- p.Ser691Leu Single submitter ⚠
- p.Ser887Asn Single submitter ⚠
- p.Ser985Gly Single submitter ⚠
- p.Thr103Ser Single submitter ⚠
- p.Thr256Asn Single submitter ⚠
- p.Thr256Pro Single submitter ⚠
- p.Thr392Ile Single submitter ⚠
- p.Thr515Ala Single submitter ⚠
- p.Thr653Lys Single submitter ⚠
- p.Thr653Met Single submitter ⚠
- p.Thr735Asn Single submitter ⚠
- p.Thr764Ala Single submitter ⚠
- p.Thr881Met Single submitter ⚠
- p.Tyr284Cys Single submitter ⚠
- p.Tyr569Cys Single submitter
- p.Tyr909Cys Single submitter ⚠
- p.Val383Met Single submitter ⚠
- p.Val41Ile Single submitter ⚠
- p.Val437Ile Single submitter ⚠
- p.Val460Leu Single submitter ⚠
- p.Val607Leu Single submitter ⚠
- p.Val646Ile Single submitter ⚠
- p.Val728Ile Single submitter ⚠
- p.Val867Ile Single submitter ⚠
- p.Val873Ile Single submitter ⚠
- p.Val992Met Single submitter ⚠