ARHGDIG — 44 ClinVar variants
All ClinVar germline ARHGDIG variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 41 flagged for review →
1 Benign · 2 Likely benign · 41 Uncertain significance
Full ARHGDIG gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 41
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARHGDIG p.Ala190Val Uncertain significance Single submitter
- ARHGDIG p.Ala44Val Uncertain significance Single submitter
- ARHGDIG p.Ala6Gly Uncertain significance Single submitter
- ARHGDIG p.Ala6Val Uncertain significance Single submitter
- ARHGDIG p.Arg60Trp Uncertain significance Single submitter
- ARHGDIG p.Arg74Gly Uncertain significance Single submitter
- ARHGDIG p.Gln175Arg Uncertain significance Single submitter
- ARHGDIG p.Glu47Gln Uncertain significance Single submitter
- ARHGDIG p.Gly216Ser Uncertain significance Single submitter
- ARHGDIG p.His209Gln Uncertain significance Single submitter
- ARHGDIG p.His209Tyr Uncertain significance Single submitter
- ARHGDIG p.Ile143Thr Uncertain significance Single submitter
- ARHGDIG p.Leu150Val Uncertain significance Single submitter
- ARHGDIG p.Lys30Glu Uncertain significance Single submitter
- ARHGDIG p.Pro34Ser Uncertain significance Single submitter
- ARHGDIG p.Val160Ala Uncertain significance Single submitter
- ARHGDIG p.Val199Ala Uncertain significance Single submitter
Predictors split 24
The independent predictors disagree with each other — read with care.
- ARHGDIG p.Ala186Val Uncertain significance Single submitter
- ARHGDIG p.Ala50Gly Uncertain significance Single submitter
- ARHGDIG p.Ala50Val Uncertain significance Single submitter
- ARHGDIG p.Arg156Gln Uncertain significance Single submitter
- ARHGDIG p.Arg193Gln Uncertain significance Single submitter
- ARHGDIG p.Asp5Asn Uncertain significance Single submitter
- ARHGDIG p.Asp85Glu Uncertain significance Single submitter
- ARHGDIG p.Glu176Ala Uncertain significance Single submitter
- ARHGDIG p.Glu39Lys Uncertain significance Single submitter
- ARHGDIG p.Glu43Lys Uncertain significance Single submitter
- ARHGDIG p.Glu8Lys Uncertain significance Single submitter
- ARHGDIG p.Leu17Phe Uncertain significance Single submitter
- ARHGDIG p.Leu26His Uncertain significance Single submitter
- ARHGDIG p.Pro104Leu Uncertain significance Single submitter
- ARHGDIG p.Pro51Leu Uncertain significance Single submitter
- ARHGDIG p.Pro81Ser Uncertain significance Single submitter
- ARHGDIG p.Pro82Leu Uncertain significance Single submitter
- ARHGDIG p.Ser100Leu Uncertain significance Single submitter
- ARHGDIG p.Ser145Ile Uncertain significance Single submitter
- ARHGDIG p.Thr112Arg Uncertain significance Single submitter
- ARHGDIG p.Thr153Ser Uncertain significance Single submitter
- ARHGDIG p.Thr203Ser Uncertain significance Single submitter
- ARHGDIG p.Thr208Met Uncertain significance Single submitter
- ARHGDIG p.Val108Ile Uncertain significance Single submitter
All ARHGDIG variants
Benign 1
- p.Pro35= Multiple submitters
Likely benign 2
- p.Asp65Glu Single submitter
- p.Ser173Arg Single submitter
Uncertain significance 41
- p.Ala186Val Single submitter ⚠
- p.Ala190Val Single submitter ⚠
- p.Ala44Val Single submitter ⚠
- p.Ala50Gly Single submitter ⚠
- p.Ala50Val Single submitter ⚠
- p.Ala6Gly Single submitter ⚠
- p.Ala6Val Single submitter ⚠
- p.Arg156Gln Single submitter ⚠
- p.Arg193Gln Single submitter ⚠
- p.Arg60Trp Single submitter ⚠
- p.Arg74Gly Single submitter ⚠
- p.Asp5Asn Single submitter ⚠
- p.Asp85Glu Single submitter ⚠
- p.Gln175Arg Single submitter ⚠
- p.Glu176Ala Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Glu43Lys Single submitter ⚠
- p.Glu47Gln Single submitter ⚠
- p.Glu8Lys Single submitter ⚠
- p.Gly216Ser Single submitter ⚠
- p.His209Gln Single submitter ⚠
- p.His209Tyr Single submitter ⚠
- p.Ile143Thr Single submitter ⚠
- p.Leu150Val Single submitter ⚠
- p.Leu17Phe Single submitter ⚠
- p.Leu26His Single submitter ⚠
- p.Lys30Glu Single submitter ⚠
- p.Pro104Leu Single submitter ⚠
- p.Pro34Ser Single submitter ⚠
- p.Pro51Leu Single submitter ⚠
- p.Pro81Ser Single submitter ⚠
- p.Pro82Leu Single submitter ⚠
- p.Ser100Leu Single submitter ⚠
- p.Ser145Ile Single submitter ⚠
- p.Thr112Arg Single submitter ⚠
- p.Thr153Ser Single submitter ⚠
- p.Thr203Ser Single submitter ⚠
- p.Thr208Met Single submitter ⚠
- p.Val108Ile Single submitter ⚠
- p.Val160Ala Single submitter ⚠
- p.Val199Ala Single submitter ⚠