ARHGEF2 — 136 ClinVar variants
All ClinVar germline ARHGEF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 91 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 8 Benign · 5 Benign/Likely benign · 21 Likely benign · 100 Uncertain significance
Full ARHGEF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 91
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 72
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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ARHGEF2 p.Asp963Glu
Uncertain significance
Multiple submitters
neurodevelopmental disorder with midbrain and hindbrain malformations
- ARHGEF2 p.Met28Thr Uncertain significance Multiple submitters
- ARHGEF2 p.Ala304Gly Uncertain significance Single submitter
- ARHGEF2 p.Ala357Thr Uncertain significance Single submitter
- ARHGEF2 p.Ala796Val Uncertain significance Single submitter
- ARHGEF2 p.Ala812Ser Uncertain significance Single submitter
- ARHGEF2 p.Ala862Thr Uncertain significance Single submitter
- ARHGEF2 p.Ala873Gly Uncertain significance Single submitter
- ARHGEF2 p.Ala889Ser Uncertain significance Single submitter
-
ARHGEF2 p.Ala96Val
Uncertain significance
Single submitter
neurodevelopmental disorder with midbrain and hindbrain malformations
- ARHGEF2 p.Ala97Thr Uncertain significance Single submitter
- ARHGEF2 p.Arg138His Uncertain significance Single submitter
- ARHGEF2 p.Arg259Leu Uncertain significance Single submitter
- ARHGEF2 p.Arg262Leu Uncertain significance Single submitter
- ARHGEF2 p.Arg317His Uncertain significance Single submitter
- ARHGEF2 p.Arg367Gln Uncertain significance Single submitter
- ARHGEF2 p.Arg371Cys Uncertain significance Single submitter
- ARHGEF2 p.Arg412Cys Uncertain significance Single submitter
- ARHGEF2 p.Arg592Gln Uncertain significance Single submitter
- ARHGEF2 p.Arg602Gln Uncertain significance Single submitter
- ARHGEF2 p.Arg650His Uncertain significance Single submitter
- ARHGEF2 p.Arg681Gln Uncertain significance Single submitter
- ARHGEF2 p.Arg774Gln Uncertain significance Single submitter
- ARHGEF2 p.Arg823Gln Uncertain significance Single submitter
- ARHGEF2 p.Arg840Gln Uncertain significance Single submitter
- ARHGEF2 p.Arg858Ser Uncertain significance Single submitter
- ARHGEF2 p.Arg908Cys Uncertain significance Single submitter
- ARHGEF2 p.Arg920Gln Uncertain significance Single submitter
- ARHGEF2 p.Arg925Gln Uncertain significance Single submitter
- ARHGEF2 p.Asn102Thr Uncertain significance Single submitter
- ARHGEF2 p.Asn447Ser Uncertain significance Single submitter
-
ARHGEF2 p.Asp128Asn
Uncertain significance
Single submitter
neurodevelopmental disorder with midbrain and hindbrain malformations
- ARHGEF2 p.Asp161Asn Uncertain significance Single submitter
- ARHGEF2 p.Asp586His Uncertain significance Single submitter
- ARHGEF2 p.Asp907Glu Uncertain significance Single submitter
-
ARHGEF2 p.Cys306Phe
Uncertain significance
Single submitter
neurodevelopmental disorder with midbrain and hindbrain malformations
-
ARHGEF2 p.Gln245Pro
Uncertain significance
Single submitter
neurodevelopmental disorder with midbrain and hindbrain malformations
- ARHGEF2 p.Gln735His Uncertain significance Single submitter
- ARHGEF2 p.Glu272Asp Uncertain significance Single submitter
- ARHGEF2 p.Glu431Lys Uncertain significance Single submitter
- ARHGEF2 p.Gly613Arg Uncertain significance Single submitter
- ARHGEF2 p.Gly905Asp Uncertain significance Single submitter
- ARHGEF2 p.Ile191Thr Uncertain significance Single submitter
- ARHGEF2 p.Leu185Val Uncertain significance Single submitter
- ARHGEF2 p.Lys210Asn Uncertain significance Single submitter
- ARHGEF2 p.Lys27Arg Uncertain significance Single submitter
- ARHGEF2 p.Phe922Leu Uncertain significance Single submitter
- ARHGEF2 p.Pro273Ala Uncertain significance Single submitter
- ARHGEF2 p.Pro307Ser Uncertain significance Single submitter
- ARHGEF2 p.Pro574Leu Uncertain significance Single submitter
- ARHGEF2 p.Pro634Leu Uncertain significance Single submitter
- ARHGEF2 p.Pro672Ser Uncertain significance Single submitter
- ARHGEF2 p.Pro680Ser Uncertain significance Single submitter
- ARHGEF2 p.Pro870Ser Uncertain significance Single submitter
- ARHGEF2 p.Pro874Leu Uncertain significance Single submitter
- ARHGEF2 p.Pro900Arg Uncertain significance Single submitter
- ARHGEF2 p.Ser122Leu Uncertain significance Single submitter
- ARHGEF2 p.Ser189Phe Uncertain significance Single submitter
- ARHGEF2 p.Ser189Tyr Uncertain significance Single submitter
-
ARHGEF2 p.Ser287Gly
Uncertain significance
Single submitter
neurodevelopmental disorder with midbrain and hindbrain malformations
- ARHGEF2 p.Ser346Gly Uncertain significance Single submitter
- ARHGEF2 p.Ser560Asn Uncertain significance Single submitter
- ARHGEF2 p.Ser648Thr Uncertain significance Single submitter
- ARHGEF2 p.Thr184Ser Uncertain significance Single submitter
- ARHGEF2 p.Thr553Ala Uncertain significance Single submitter
- ARHGEF2 p.Thr695Met Uncertain significance Single submitter
- ARHGEF2 p.Thr830Ile Uncertain significance Single submitter
- ARHGEF2 p.Val187Met Uncertain significance Single submitter
- ARHGEF2 p.Val374Met Uncertain significance Single submitter
- ARHGEF2 p.Val520Met Uncertain significance Single submitter
-
ARHGEF2 p.Gly979Trp
Uncertain significance
No assertion criteria
microcephaly
-
ARHGEF2 p.Ser691Ile
Uncertain significance
No assertion criteria
myoepithelial tumor
Predictors split 19
The independent predictors disagree with each other — read with care.
- ARHGEF2 p.Arg302Cys Uncertain significance Single submitter
- ARHGEF2 p.Arg564Trp Uncertain significance Single submitter
- ARHGEF2 p.Arg653Trp Uncertain significance Single submitter
- ARHGEF2 p.Arg851Cys Uncertain significance Single submitter
- ARHGEF2 p.Asp211His Uncertain significance Single submitter
- ARHGEF2 p.Asp760Glu Uncertain significance Single submitter
- ARHGEF2 p.Asp760Tyr Uncertain significance Single submitter
- ARHGEF2 p.Glu118Val Uncertain significance Single submitter
- ARHGEF2 p.Glu652Lys Uncertain significance Single submitter
- ARHGEF2 p.Gly319Ser Uncertain significance Single submitter
- ARHGEF2 p.Ile659Thr Uncertain significance Single submitter
- ARHGEF2 p.Met52Arg Uncertain significance Single submitter
- ARHGEF2 p.Phe293Leu Uncertain significance Single submitter
- ARHGEF2 p.Ser109Cys Uncertain significance Single submitter
- ARHGEF2 p.Ser112Arg Uncertain significance Single submitter
- ARHGEF2 p.Ser522Thr Uncertain significance Single submitter
- ARHGEF2 p.Thr485Met Uncertain significance Single submitter
- ARHGEF2 p.Val493Met Likely benign Single submitter
- ARHGEF2 p.Val528Ile Uncertain significance Single submitter
All ARHGEF2 variants
Pathogenic 1
- c.1545+1del No assertion criteria neurodevelopmental disorder with midbrain and hindbrain malformations
Likely pathogenic 1
- p.Glu843Ter Single submitter neurodevelopmental disorder with midbrain and hindbrain malformations
Benign 8
- c.1468+84C>T Multiple submitters neurodevelopmental disorder with midbrain and hindbrain malformations
- c.1469-45A>G Multiple submitters neurodevelopmental disorder with midbrain and hindbrain malformations
- c.1469-55G>A Multiple submitters neurodevelopmental disorder with midbrain and hindbrain malformations
- c.2888-74A>T Multiple submitters neurodevelopmental disorder with midbrain and hindbrain malformations
- p.Gly951Cys Multiple submitters
- c.581-10T>A Single submitter
- p.Pro971= Single submitter
- c.581-10T>C No assertion criteria ARHGEF2-related disorder
Benign/Likely benign 5
Likely benign 21
- p.Ala331= Multiple submitters
- p.His406= Multiple submitters
- p.Ser522= Multiple submitters
- p.Thr253= Multiple submitters
- c.1219+14C>G Single submitter
- p.Arg14= Single submitter
- p.Arg609Gln Single submitter
- p.Leu286= Single submitter
- p.Leu397= Single submitter
- p.Leu41= Single submitter
- p.Leu824= Single submitter
- p.Leu893= Single submitter
- p.Thr485= Single submitter
- p.Val493Met Single submitter ⚠
- p.Val674= Single submitter
- c.1101+7G>A No assertion criteria ARHGEF2-related disorder
- c.63+9G>A No assertion criteria ARHGEF2-related disorder
- p.Leu668= No assertion criteria ARHGEF2-related disorder
- p.Pro395= No assertion criteria ARHGEF2-related disorder
- p.Thr802= No assertion criteria ARHGEF2-related disorder
- p.Val612= No assertion criteria ARHGEF2-related disorder
Uncertain significance 100
- p.Asp963Glu Multiple submitters neurodevelopmental disorder with midbrain and hindbrain malformations ⚠
- p.Met28Thr Multiple submitters ⚠
- c.340+1G>T Single submitter
- p.Ala304Gly Single submitter ⚠
- p.Ala357Thr Single submitter ⚠
- p.Ala796Val Single submitter ⚠
- p.Ala812Ser Single submitter ⚠
- p.Ala862Thr Single submitter ⚠
- p.Ala873Gly Single submitter ⚠
- p.Ala889Ser Single submitter ⚠
- p.Ala96Val Single submitter neurodevelopmental disorder with midbrain and hindbrain malformations ⚠
- p.Ala97Thr Single submitter ⚠
- p.Arg138His Single submitter ⚠
- p.Arg139Cys Single submitter
- p.Arg23Trp Single submitter
- p.Arg259Leu Single submitter ⚠
- p.Arg262Cys Single submitter
- p.Arg262Leu Single submitter ⚠
- p.Arg302Cys Single submitter ⚠
- p.Arg317His Single submitter ⚠
- p.Arg367Gln Single submitter ⚠
- p.Arg371Cys Single submitter ⚠
- p.Arg400Cys Single submitter
- p.Arg412Cys Single submitter ⚠
- p.Arg564Trp Single submitter ⚠
- p.Arg592Gln Single submitter ⚠
- p.Arg602Gln Single submitter ⚠
- p.Arg642Cys Single submitter
- p.Arg650His Single submitter ⚠
- p.Arg653Trp Single submitter ⚠
- p.Arg681Gln Single submitter ⚠
- p.Arg774Gln Single submitter ⚠
- p.Arg823Gln Single submitter ⚠
- p.Arg840Gln Single submitter ⚠
- p.Arg851Cys Single submitter ⚠
- p.Arg858Ser Single submitter ⚠
- p.Arg908Cys Single submitter ⚠
- p.Arg920Gln Single submitter ⚠
- p.Arg925Gln Single submitter ⚠
- p.Asn102Thr Single submitter ⚠
- p.Asn447Ser Single submitter ⚠
- p.Asp128Asn Single submitter neurodevelopmental disorder with midbrain and hindbrain malformations ⚠
- p.Asp161Asn Single submitter ⚠
- p.Asp211His Single submitter ⚠
- p.Asp586His Single submitter ⚠
- p.Asp760Glu Single submitter ⚠
- p.Asp760Tyr Single submitter ⚠
- p.Asp907Glu Single submitter ⚠
- p.Cys306Phe Single submitter neurodevelopmental disorder with midbrain and hindbrain malformations ⚠
- p.Gln173= Single submitter
- p.Gln245Pro Single submitter neurodevelopmental disorder with midbrain and hindbrain malformations ⚠
- p.Gln735His Single submitter ⚠
- p.Glu118Val Single submitter ⚠
- p.Glu272Asp Single submitter ⚠
- p.Glu431Lys Single submitter ⚠
- p.Glu652Lys Single submitter ⚠
- p.Gly319Ser Single submitter ⚠
- p.Gly613Arg Single submitter ⚠
- p.Gly905Asp Single submitter ⚠
- p.Ile191Thr Single submitter ⚠
- p.Ile659Thr Single submitter ⚠
- p.Leu185Val Single submitter ⚠
- p.Leu581fs Single submitter
- p.Leu848= Single submitter
- p.Lys210Asn Single submitter ⚠
- p.Lys27Arg Single submitter ⚠
- p.Met52Arg Single submitter ⚠
- p.Phe293Leu Single submitter ⚠
- p.Phe922Leu Single submitter ⚠
- p.Pro273Ala Single submitter ⚠
- p.Pro307Ser Single submitter ⚠
- p.Pro574Leu Single submitter ⚠
- p.Pro634Leu Single submitter ⚠
- p.Pro672Ser Single submitter ⚠
- p.Pro680Ser Single submitter ⚠
- p.Pro870Ser Single submitter ⚠
- p.Pro874Leu Single submitter ⚠
- p.Pro900Arg Single submitter ⚠
- p.Ser109Cys Single submitter ⚠
- p.Ser112Arg Single submitter ⚠
- p.Ser122Leu Single submitter ⚠
- p.Ser189Phe Single submitter ⚠
- p.Ser189Tyr Single submitter ⚠
- p.Ser287Gly Single submitter neurodevelopmental disorder with midbrain and hindbrain malformations ⚠
- p.Ser346Gly Single submitter ⚠
- p.Ser522Thr Single submitter ⚠
- p.Ser560Asn Single submitter ⚠
- p.Ser648Thr Single submitter ⚠
- p.Thr184Ser Single submitter ⚠
- p.Thr485Met Single submitter ⚠
- p.Thr553Ala Single submitter ⚠
- p.Thr695Met Single submitter ⚠
- p.Thr830Ile Single submitter ⚠
- p.Val187Met Single submitter ⚠
- p.Val374Met Single submitter ⚠
- p.Val520Met Single submitter ⚠
- p.Val528Ile Single submitter ⚠
- p.Gln567His No assertion criteria microcephaly
- p.Gly979Trp No assertion criteria microcephaly ⚠
- p.Ser691Ile No assertion criteria myoepithelial tumor ⚠