ARHGAP44 — 92 ClinVar variants
All ClinVar germline ARHGAP44 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 86 flagged for review →
1 Benign · 5 Likely benign · 86 Uncertain significance
Full ARHGAP44 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 48
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARHGAP44 p.Ala172Val Uncertain significance Single submitter
- ARHGAP44 p.Ala526Val Uncertain significance Single submitter
- ARHGAP44 p.Ala547Thr Uncertain significance Single submitter
- ARHGAP44 p.Ala550Pro Uncertain significance Single submitter
- ARHGAP44 p.Ala553Pro Uncertain significance Single submitter
- ARHGAP44 p.Ala572Thr Uncertain significance Single submitter
- ARHGAP44 p.Ala612Thr Uncertain significance Single submitter
- ARHGAP44 p.Ala637Thr Uncertain significance Single submitter
- ARHGAP44 p.Ala750Val Uncertain significance Single submitter
- ARHGAP44 p.Arg490Trp Uncertain significance Single submitter
- ARHGAP44 p.Arg791His Uncertain significance Single submitter
- ARHGAP44 p.Arg799Gln Uncertain significance Single submitter
- ARHGAP44 p.Arg800Gln Uncertain significance Single submitter
- ARHGAP44 p.Asn409Lys Uncertain significance Single submitter
- ARHGAP44 p.Asp312Gly Uncertain significance Single submitter
- ARHGAP44 p.Asp808Asn Uncertain significance Single submitter
- ARHGAP44 p.Gln581Arg Uncertain significance Single submitter
- ARHGAP44 p.Glu131Gly Uncertain significance Single submitter
- ARHGAP44 p.Glu336Ala Uncertain significance Single submitter
- ARHGAP44 p.Glu448Asp Uncertain significance Single submitter
- ARHGAP44 p.Glu486Gln Uncertain significance Single submitter
- ARHGAP44 p.Glu486Lys Uncertain significance Single submitter
- ARHGAP44 p.Glu594Lys Uncertain significance Single submitter
- ARHGAP44 p.Glu785Gln Uncertain significance Single submitter
- ARHGAP44 p.Gly533Asp Uncertain significance Single submitter
- ARHGAP44 p.Ile323Val Uncertain significance Single submitter
- ARHGAP44 p.Ile453Val Uncertain significance Single submitter
- ARHGAP44 p.Ile782Val Uncertain significance Single submitter
- ARHGAP44 p.Ile784Thr Uncertain significance Single submitter
- ARHGAP44 p.Leu30Arg Uncertain significance Single submitter
- ARHGAP44 p.Leu792Pro Uncertain significance Single submitter
- ARHGAP44 p.Lys591Arg Uncertain significance Single submitter
- ARHGAP44 p.Lys806Glu Uncertain significance Single submitter
- ARHGAP44 p.Met472Val Uncertain significance Single submitter
- ARHGAP44 p.Phe719Ser Uncertain significance Single submitter
- ARHGAP44 p.Pro548Leu Uncertain significance Single submitter
- ARHGAP44 p.Pro555Ser Uncertain significance Single submitter
- ARHGAP44 p.Pro564Ser Uncertain significance Single submitter
- ARHGAP44 p.Pro568Ser Uncertain significance Single submitter
- ARHGAP44 p.Pro663Leu Uncertain significance Single submitter
- ARHGAP44 p.Pro766Ser Uncertain significance Single submitter
- ARHGAP44 p.Ser427Leu Uncertain significance Single submitter
- ARHGAP44 p.Ser531Leu Uncertain significance Single submitter
- ARHGAP44 p.Ser749Leu Uncertain significance Single submitter
- ARHGAP44 p.Thr46Met Uncertain significance Single submitter
- ARHGAP44 p.Tyr211His Uncertain significance Single submitter
- ARHGAP44 p.Val775Ile Uncertain significance Single submitter
-
ARHGAP44 p.Asp481Gly
Uncertain significance
No assertion criteria
ARHGAP44-related disorder
Predictors split 38
The independent predictors disagree with each other — read with care.
- ARHGAP44 p.Ala128Val Uncertain significance Single submitter
- ARHGAP44 p.Ala186Thr Uncertain significance Single submitter
- ARHGAP44 p.Ala304Val Uncertain significance Single submitter
- ARHGAP44 p.Ala366Thr Uncertain significance Single submitter
- ARHGAP44 p.Arg482Trp Uncertain significance Single submitter
- ARHGAP44 p.Arg483His Uncertain significance Single submitter
- ARHGAP44 p.Arg489Cys Uncertain significance Single submitter
- ARHGAP44 p.Arg586Cys Uncertain significance Single submitter
- ARHGAP44 p.Arg645Gln Uncertain significance Single submitter
- ARHGAP44 p.Arg799Trp Uncertain significance Single submitter
- ARHGAP44 p.Asp393Gly Uncertain significance Single submitter
- ARHGAP44 p.Cys282Tyr Uncertain significance Single submitter
- ARHGAP44 p.Gln609His Uncertain significance Single submitter
- ARHGAP44 p.Glu281Asp Uncertain significance Single submitter
- ARHGAP44 p.Glu812Ala Uncertain significance Single submitter
- ARHGAP44 p.Ile382Leu Uncertain significance Single submitter
- ARHGAP44 p.Leu573Phe Uncertain significance Single submitter
- ARHGAP44 p.Leu738Arg Uncertain significance Single submitter
- ARHGAP44 p.Lys511Glu Uncertain significance Single submitter
- ARHGAP44 p.Phe451Leu Uncertain significance Single submitter
- ARHGAP44 p.Pro256Leu Uncertain significance Single submitter
- ARHGAP44 p.Pro559Leu Uncertain significance Single submitter
- ARHGAP44 p.Pro622Ser Uncertain significance Single submitter
- ARHGAP44 p.Pro626Leu Uncertain significance Single submitter
- ARHGAP44 p.Pro656Ala Uncertain significance Single submitter
- ARHGAP44 p.Pro683Leu Uncertain significance Single submitter
- ARHGAP44 p.Pro687Gln Uncertain significance Single submitter
- ARHGAP44 p.Pro739Leu Uncertain significance Single submitter
- ARHGAP44 p.Ser166Phe Uncertain significance Single submitter
- ARHGAP44 p.Ser459Asn Uncertain significance Single submitter
- ARHGAP44 p.Ser702Trp Uncertain significance Single submitter
- ARHGAP44 p.Ser715Phe Uncertain significance Single submitter
- ARHGAP44 p.Ser765Phe Uncertain significance Single submitter
- ARHGAP44 p.Ser781Leu Uncertain significance Single submitter
- ARHGAP44 p.Ser788Leu Uncertain significance Single submitter
- ARHGAP44 p.Ser802Ala Uncertain significance Single submitter
- ARHGAP44 p.Thr643Ile Uncertain significance Single submitter
- ARHGAP44 p.Val32Met Uncertain significance Single submitter
All ARHGAP44 variants
Benign 1
- p.Gln414= Multiple submitters
Likely benign 5
- p.Arg18= Single submitter
- p.Asp668Glu Single submitter
- p.Pro548= Single submitter
- p.Ser670= Single submitter
- p.Pro683= No assertion criteria ARHGAP44-related disorder
Uncertain significance 86
- p.Ala128Val Single submitter ⚠
- p.Ala172Val Single submitter ⚠
- p.Ala186Thr Single submitter ⚠
- p.Ala304Val Single submitter ⚠
- p.Ala366Thr Single submitter ⚠
- p.Ala526Val Single submitter ⚠
- p.Ala547Thr Single submitter ⚠
- p.Ala550Pro Single submitter ⚠
- p.Ala553Pro Single submitter ⚠
- p.Ala572Thr Single submitter ⚠
- p.Ala612Thr Single submitter ⚠
- p.Ala637Thr Single submitter ⚠
- p.Ala750Val Single submitter ⚠
- p.Arg482Trp Single submitter ⚠
- p.Arg483His Single submitter ⚠
- p.Arg489Cys Single submitter ⚠
- p.Arg490Trp Single submitter ⚠
- p.Arg586Cys Single submitter ⚠
- p.Arg645Gln Single submitter ⚠
- p.Arg791His Single submitter ⚠
- p.Arg799Gln Single submitter ⚠
- p.Arg799Trp Single submitter ⚠
- p.Arg800Gln Single submitter ⚠
- p.Asn409Lys Single submitter ⚠
- p.Asp312Gly Single submitter ⚠
- p.Asp393Gly Single submitter ⚠
- p.Asp808Asn Single submitter ⚠
- p.Cys282Tyr Single submitter ⚠
- p.Gln581Arg Single submitter ⚠
- p.Gln609His Single submitter ⚠
- p.Glu131Gly Single submitter ⚠
- p.Glu281Asp Single submitter ⚠
- p.Glu336Ala Single submitter ⚠
- p.Glu448Asp Single submitter ⚠
- p.Glu486Gln Single submitter ⚠
- p.Glu486Lys Single submitter ⚠
- p.Glu594Lys Single submitter ⚠
- p.Glu785Gln Single submitter ⚠
- p.Glu812Ala Single submitter ⚠
- p.Gly533Asp Single submitter ⚠
- p.Ile323Val Single submitter ⚠
- p.Ile382Leu Single submitter ⚠
- p.Ile453Val Single submitter ⚠
- p.Ile782Val Single submitter ⚠
- p.Ile784Thr Single submitter ⚠
- p.Leu30Arg Single submitter ⚠
- p.Leu573Phe Single submitter ⚠
- p.Leu738Arg Single submitter ⚠
- p.Leu792Pro Single submitter ⚠
- p.Lys511Glu Single submitter ⚠
- p.Lys591Arg Single submitter ⚠
- p.Lys806Glu Single submitter ⚠
- p.Met472Val Single submitter ⚠
- p.Phe451Leu Single submitter ⚠
- p.Phe719Ser Single submitter ⚠
- p.Pro256Leu Single submitter ⚠
- p.Pro548Leu Single submitter ⚠
- p.Pro555Ser Single submitter ⚠
- p.Pro559Leu Single submitter ⚠
- p.Pro564Ser Single submitter ⚠
- p.Pro568Ser Single submitter ⚠
- p.Pro622Ser Single submitter ⚠
- p.Pro626Leu Single submitter ⚠
- p.Pro656Ala Single submitter ⚠
- p.Pro663Leu Single submitter ⚠
- p.Pro683Leu Single submitter ⚠
- p.Pro687Gln Single submitter ⚠
- p.Pro739Leu Single submitter ⚠
- p.Pro766Ser Single submitter ⚠
- p.Ser166Phe Single submitter ⚠
- p.Ser427Leu Single submitter ⚠
- p.Ser459Asn Single submitter ⚠
- p.Ser531Leu Single submitter ⚠
- p.Ser702Trp Single submitter ⚠
- p.Ser715Phe Single submitter ⚠
- p.Ser749Leu Single submitter ⚠
- p.Ser765Phe Single submitter ⚠
- p.Ser781Leu Single submitter ⚠
- p.Ser788Leu Single submitter ⚠
- p.Ser802Ala Single submitter ⚠
- p.Thr46Met Single submitter ⚠
- p.Thr643Ile Single submitter ⚠
- p.Tyr211His Single submitter ⚠
- p.Val32Met Single submitter ⚠
- p.Val775Ile Single submitter ⚠
- p.Asp481Gly No assertion criteria ARHGAP44-related disorder ⚠