ARHGEF6 — 107 ClinVar variants
All ClinVar germline ARHGEF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 80 flagged for review →
4 Conflicting · 5 Benign · 3 Benign/Likely benign · 17 Likely benign · 78 Uncertain significance
Full ARHGEF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 80
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 agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARHGEF6 p.Arg577Gln Uncertain significance Multiple submitters
-
ARHGEF6 p.Gly675Val
Uncertain significance
Multiple submitters
intellectual disability, X-linked 46
-
ARHGEF6 p.Lys648Arg
Uncertain significance
Multiple submitters
ARHGEF6-associated Neurodevelopmental disorder
- ARHGEF6 p.Thr152Ile Uncertain significance Multiple submitters
- ARHGEF6 p.Ala341Ser Uncertain significance Single submitter
- ARHGEF6 p.Ala361Ser Uncertain significance Single submitter
- ARHGEF6 p.Ala64Thr Uncertain significance Single submitter
- ARHGEF6 p.Ala651Thr Uncertain significance Single submitter
- ARHGEF6 p.Ala665Gly Uncertain significance Single submitter
- ARHGEF6 p.Ala720Thr Uncertain significance Single submitter
- ARHGEF6 p.Arg392Trp Uncertain significance Single submitter
- ARHGEF6 p.Asp513Tyr Uncertain significance Single submitter
- ARHGEF6 p.Cys418Tyr Uncertain significance Single submitter
- ARHGEF6 p.Glu216Gly Uncertain significance Single submitter
- ARHGEF6 p.Glu524Gln Uncertain significance Single submitter
- ARHGEF6 p.Glu5Gly Uncertain significance Single submitter
- ARHGEF6 p.Gly231Glu Uncertain significance Single submitter
- ARHGEF6 p.Gly448Glu Uncertain significance Single submitter
- ARHGEF6 p.Ile12Leu Uncertain significance Single submitter
- ARHGEF6 p.Ile249Phe Uncertain significance Single submitter
- ARHGEF6 p.Ile708Leu Uncertain significance Single submitter
- ARHGEF6 p.Lys382Ile Uncertain significance Single submitter
- ARHGEF6 p.Lys736Arg Uncertain significance Single submitter
- ARHGEF6 p.Lys751Gln Uncertain significance Single submitter
- ARHGEF6 p.Met472Thr Uncertain significance Single submitter
- ARHGEF6 p.Pro576Ser Uncertain significance Single submitter
- ARHGEF6 p.Ser374Gly Uncertain significance Single submitter
- ARHGEF6 p.Ser613Pro Uncertain significance Single submitter
- ARHGEF6 p.Thr156Met Uncertain significance Single submitter
- ARHGEF6 p.Thr294Ala Uncertain significance Single submitter
- ARHGEF6 p.Thr515Ala Uncertain significance Single submitter
- ARHGEF6 p.Thr625Met Uncertain significance Single submitter
- ARHGEF6 p.Thr760Ala Uncertain significance Single submitter
- ARHGEF6 p.Val718Ile Uncertain significance Single submitter
- ARHGEF6 p.Ile698Thr Uncertain significance No assertion criteria
Predictors split 43
The independent predictors disagree with each other — read with care.
- ARHGEF6 p.Ala336Thr Uncertain significance Multiple submitters
-
ARHGEF6 p.Arg121His
Benign/Likely benign
Multiple submitters
genetic developmental and epileptic encephalopathy
- ARHGEF6 p.Asp185Asn Uncertain significance Multiple submitters
- ARHGEF6 p.Gln297His Benign/Likely benign Multiple submitters
- ARHGEF6 p.His401Gln Uncertain significance Multiple submitters
-
ARHGEF6 p.Ser362Leu
Uncertain significance
Multiple submitters
ARHGEF6-related disorder
- ARHGEF6 p.Ala361Thr Uncertain significance Single submitter
-
ARHGEF6 p.Arg269Ile
Uncertain significance
Single submitter
ARHGEF6-related disorder
- ARHGEF6 p.Arg424Ile Uncertain significance Single submitter
- ARHGEF6 p.Arg525Thr Uncertain significance Single submitter
- ARHGEF6 p.Arg747Thr Uncertain significance Single submitter
- ARHGEF6 p.Asn175Ser Uncertain significance Single submitter
- ARHGEF6 p.Asn203Ser Uncertain significance Single submitter
- ARHGEF6 p.Asn532Asp Uncertain significance Single submitter
-
ARHGEF6 p.Asn732Asp
Uncertain significance
Single submitter
ARHGEF6-related disorder
- ARHGEF6 p.Asp403Asn Uncertain significance Single submitter
- ARHGEF6 p.Asp535Asn Uncertain significance Single submitter
- ARHGEF6 p.Asp716Ala Uncertain significance Single submitter
-
ARHGEF6 p.Cys57Arg
Conflicting
Single submitter
intellectual disability, X-linked 46
- ARHGEF6 p.Gln455Glu Uncertain significance Single submitter
-
ARHGEF6 p.Glu694Lys
Uncertain significance
Single submitter
leukoencephalopathy with vanishing white matter
- ARHGEF6 p.Glu700Gly Uncertain significance Single submitter
- ARHGEF6 p.Glu724Lys Uncertain significance Single submitter
- ARHGEF6 p.Ile24Val Uncertain significance Single submitter
- ARHGEF6 p.Ile491Val Uncertain significance Single submitter
- ARHGEF6 p.Leu250Val Uncertain significance Single submitter
- ARHGEF6 p.Leu739Met Likely benign Single submitter
- ARHGEF6 p.Lys495Glu Uncertain significance Single submitter
- ARHGEF6 p.Pro588Leu Uncertain significance Single submitter
- ARHGEF6 p.Ser122Phe Uncertain significance Single submitter
- ARHGEF6 p.Ser34Leu Uncertain significance Single submitter
- ARHGEF6 p.Ser554Gly Uncertain significance Single submitter
- ARHGEF6 p.Ser557Phe Uncertain significance Single submitter
- ARHGEF6 p.Ser562Leu Likely benign Single submitter
- ARHGEF6 p.Ser565Asn Uncertain significance Single submitter
- ARHGEF6 p.Ser590Arg Conflicting Single submitter
-
ARHGEF6 p.Ser590Asn
Uncertain significance
Single submitter
intellectual disability, X-linked 46
- ARHGEF6 p.Ser684Phe Uncertain significance Single submitter
- ARHGEF6 p.Ser713Asn Uncertain significance Single submitter
- ARHGEF6 p.Ser770Asn Uncertain significance Single submitter
- ARHGEF6 p.Thr234Ile Uncertain significance Single submitter
- ARHGEF6 p.Thr238Ile Uncertain significance Single submitter
- ARHGEF6 p.Val458Ala Uncertain significance Single submitter
All ARHGEF6 variants
Conflicting classifications of pathogenicity 4
- p.Asp88His Single submitter ⚠
- p.Cys57Arg Single submitter intellectual disability, X-linked 46 ⚠
- p.Ser590Arg Single submitter ⚠
- p.Val229Ile Single submitter ⚠
Benign 5
- c.1480-3T>C Multiple submitters
- p.Pro588= Multiple submitters
- p.Ser669= Multiple submitters
- p.Thr573= Multiple submitters
- p.Leu286= Single submitter
Benign/Likely benign 3
- c.166-11T>C Multiple submitters intellectual disability, X-linked 46
- p.Arg121His Multiple submitters genetic developmental and epileptic encephalopathy ⚠
- p.Gln297His Multiple submitters ⚠
Likely benign 17
- c.334+7C>T Multiple submitters
- p.His529= Multiple submitters
- p.Thr501Met Multiple submitters
- c.1946-3C>T Single submitter
- c.250-4A>G Single submitter
- c.459+4A>T Single submitter
- c.662-12dup Single submitter
- p.Glu767Asp Single submitter
- p.Leu739Met Single submitter ⚠
- p.Leu756= Single submitter
- p.Ser562Leu Single submitter ⚠
- p.Thr397Ser Single submitter
- p.Tyr644= Single submitter
- p.Val342= Single submitter
- p.Cys463Arg No assertion criteria intellectual disability
- p.Gln417= No assertion criteria ARHGEF6-related disorder
- p.Ser555= No assertion criteria ARHGEF6-related disorder
Uncertain significance 78
- p.Ala336Thr Multiple submitters ⚠
- p.Arg577Gln Multiple submitters ⚠
- p.Asp185Asn Multiple submitters ⚠
- p.Gly675Val Multiple submitters intellectual disability, X-linked 46 ⚠
- p.His401Gln Multiple submitters ⚠
- p.Leu690del Multiple submitters ARHGEF6-related disorder
- p.Lys648Arg Multiple submitters ARHGEF6-associated Neurodevelopmental disorder ⚠
- p.Ser362Leu Multiple submitters ARHGEF6-related disorder ⚠
- p.Thr152Ile Multiple submitters ⚠
- c.2035+5G>C Single submitter
- p.Ala341Ser Single submitter ⚠
- p.Ala361Ser Single submitter ⚠
- p.Ala361Thr Single submitter ⚠
- p.Ala551= Single submitter
- p.Ala64Thr Single submitter ⚠
- p.Ala651Thr Single submitter ⚠
- p.Ala665Gly Single submitter ⚠
- p.Ala720Thr Single submitter ⚠
- p.Arg269Ile Single submitter ARHGEF6-related disorder ⚠
- p.Arg392Trp Single submitter ⚠
- p.Arg424Ile Single submitter ⚠
- p.Arg525Thr Single submitter ⚠
- p.Arg747Thr Single submitter ⚠
- p.Asn175Ser Single submitter ⚠
- p.Asn203Ser Single submitter ⚠
- p.Asn532Asp Single submitter ⚠
- p.Asn732Asp Single submitter ARHGEF6-related disorder ⚠
- p.Asp403Asn Single submitter ⚠
- p.Asp513Tyr Single submitter ⚠
- p.Asp535Asn Single submitter ⚠
- p.Asp716Ala Single submitter ⚠
- p.Cys418Tyr Single submitter ⚠
- p.Gln455Glu Single submitter ⚠
- p.Glu216Gly Single submitter ⚠
- p.Glu517fs Single submitter
- p.Glu524Gln Single submitter ⚠
- p.Glu5Gly Single submitter ⚠
- p.Glu694Lys Single submitter leukoencephalopathy with vanishing white matter ⚠
- p.Glu700Gly Single submitter ⚠
- p.Glu724Lys Single submitter ⚠
- p.Gly231Glu Single submitter ⚠
- p.Gly448Glu Single submitter ⚠
- p.Gly766= Single submitter
- p.His314= Single submitter
- p.Ile12Leu Single submitter ⚠
- p.Ile249Phe Single submitter ⚠
- p.Ile24Val Single submitter ⚠
- p.Ile491Val Single submitter ⚠
- p.Ile708Leu Single submitter ⚠
- p.Leu250Val Single submitter ⚠
- p.Lys382Ile Single submitter ⚠
- p.Lys495Glu Single submitter ⚠
- p.Lys736Arg Single submitter ⚠
- p.Lys751Gln Single submitter ⚠
- p.Met472Thr Single submitter ⚠
- p.Pro576Ser Single submitter ⚠
- p.Pro588Leu Single submitter ⚠
- p.Ser122Phe Single submitter ⚠
- p.Ser34Leu Single submitter ⚠
- p.Ser374Gly Single submitter ⚠
- p.Ser554Gly Single submitter ⚠
- p.Ser557Phe Single submitter ⚠
- p.Ser565Asn Single submitter ⚠
- p.Ser590Asn Single submitter intellectual disability, X-linked 46 ⚠
- p.Ser613Pro Single submitter ⚠
- p.Ser684Phe Single submitter ⚠
- p.Ser713Asn Single submitter ⚠
- p.Ser770Asn Single submitter ⚠
- p.Thr156Met Single submitter ⚠
- p.Thr234Ile Single submitter ⚠
- p.Thr238Ile Single submitter ⚠
- p.Thr294Ala Single submitter ⚠
- p.Thr515Ala Single submitter ⚠
- p.Thr625Met Single submitter ⚠
- p.Thr760Ala Single submitter ⚠
- p.Val458Ala Single submitter ⚠
- p.Val718Ile Single submitter ⚠
- p.Ile698Thr No assertion criteria ⚠