ARFGAP2 — 70 ClinVar variants
All ClinVar germline ARFGAP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 58 flagged for review →
7 Benign · 9 Likely benign · 54 Uncertain significance
Full ARFGAP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 58
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 28
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARFGAP2 p.Ala272Thr Uncertain significance Single submitter
- ARFGAP2 p.Ala443Val Uncertain significance Single submitter
- ARFGAP2 p.Ala500Pro Uncertain significance Single submitter
- ARFGAP2 p.Arg285Leu Uncertain significance Single submitter
- ARFGAP2 p.Arg300Gln Uncertain significance Single submitter
- ARFGAP2 p.Arg397Gln Uncertain significance Single submitter
- ARFGAP2 p.Arg78Trp Uncertain significance Single submitter
- ARFGAP2 p.Asn405His Uncertain significance Single submitter
- ARFGAP2 p.Asn71Ser Uncertain significance Single submitter
- ARFGAP2 p.Gln239Glu Uncertain significance Single submitter
- ARFGAP2 p.Gly349Asp Uncertain significance Single submitter
- ARFGAP2 p.Gly366Glu Uncertain significance Single submitter
- ARFGAP2 p.Gly370Asp Uncertain significance Single submitter
- ARFGAP2 p.Gly474Arg Uncertain significance Single submitter
- ARFGAP2 p.Ile213Thr Uncertain significance Single submitter
- ARFGAP2 p.Leu514Trp Uncertain significance Single submitter
- ARFGAP2 p.Lys286Met Uncertain significance Single submitter
- ARFGAP2 p.Lys387Glu Uncertain significance Single submitter
- ARFGAP2 p.Met138Val Uncertain significance Single submitter
- ARFGAP2 p.Met274Val Uncertain significance Single submitter
- ARFGAP2 p.Pro171Thr Uncertain significance Single submitter
- ARFGAP2 p.Pro202Ser Uncertain significance Single submitter
- ARFGAP2 p.Ser337Ala Uncertain significance Single submitter
- ARFGAP2 p.Ser340Thr Uncertain significance Single submitter
- ARFGAP2 p.Ser368Gly Uncertain significance Single submitter
- ARFGAP2 p.Ser38Gly Uncertain significance Single submitter
- ARFGAP2 p.Thr8Ser Uncertain significance Single submitter
- ARFGAP2 p.Val483Met Uncertain significance Single submitter
Predictors split 30
The independent predictors disagree with each other — read with care.
- ARFGAP2 p.Ala227Thr Uncertain significance Single submitter
- ARFGAP2 p.Ala259Thr Uncertain significance Single submitter
- ARFGAP2 p.Ala266Val Uncertain significance Single submitter
- ARFGAP2 p.Ala421Val Uncertain significance Single submitter
- ARFGAP2 p.Arg119Trp Uncertain significance Single submitter
- ARFGAP2 p.Arg255Gly Uncertain significance Single submitter
- ARFGAP2 p.Arg255His Uncertain significance Single submitter
- ARFGAP2 p.Arg406Gln Uncertain significance Single submitter
- ARFGAP2 p.Arg412Trp Uncertain significance Single submitter
- ARFGAP2 p.Arg439Trp Uncertain significance Single submitter
- ARFGAP2 p.Asn482Ile Uncertain significance Single submitter
- ARFGAP2 p.Glu289Gly Uncertain significance Single submitter
- ARFGAP2 p.Glu386Asp Uncertain significance Single submitter
- ARFGAP2 p.Glu390Gln Uncertain significance Single submitter
- ARFGAP2 p.Glu417Lys Uncertain significance Single submitter
- ARFGAP2 p.Gly122Glu Uncertain significance Single submitter
- ARFGAP2 p.Leu225Val Uncertain significance Single submitter
- ARFGAP2 p.Lys15Glu Uncertain significance Single submitter
- ARFGAP2 p.Lys24Arg Uncertain significance Single submitter
- ARFGAP2 p.Lys264Glu Uncertain significance Single submitter
- ARFGAP2 p.Pro167Leu Uncertain significance Single submitter
- ARFGAP2 p.Pro189Leu Uncertain significance Single submitter
- ARFGAP2 p.Pro21Ser Uncertain significance Single submitter
- ARFGAP2 p.Ser334Asn Uncertain significance Single submitter
- ARFGAP2 p.Ser520Thr Uncertain significance Single submitter
- ARFGAP2 p.Thr89Met Uncertain significance Single submitter
-
ARFGAP2 p.Arg255Cys
Benign
No assertion criteria
ARFGAP2-related disorder
-
ARFGAP2 p.Arg406Trp
Benign
No assertion criteria
ARFGAP2-related disorder
-
ARFGAP2 p.Gly519Ser
Likely benign
No assertion criteria
ARFGAP2-related disorder
-
ARFGAP2 p.Leu225Pro
Benign
No assertion criteria
ARFGAP2-related disorder
All ARFGAP2 variants
Benign 7
- c.809+6T>C No assertion criteria ARFGAP2-related disorder
- c.*4G>A No assertion criteria ARFGAP2-related disorder
- p.Ala266= No assertion criteria ARFGAP2-related disorder
- p.Arg255Cys No assertion criteria ARFGAP2-related disorder ⚠
- p.Arg339His No assertion criteria ARFGAP2-related disorder
- p.Arg406Trp No assertion criteria ARFGAP2-related disorder ⚠
- p.Leu225Pro No assertion criteria ARFGAP2-related disorder ⚠
Likely benign 9
- p.Asn100Ser Single submitter
- p.Ser180Pro Single submitter
- c.191+6C>T No assertion criteria ARFGAP2-related disorder
- c.265-10T>C No assertion criteria ARFGAP2-related disorder
- c.396+7G>A No assertion criteria ARFGAP2-related disorder
- c.-9G>A No assertion criteria ARFGAP2-related disorder
- p.Arg339Leu No assertion criteria ARFGAP2-related disorder
- p.Asn103Ser No assertion criteria ARFGAP2-related disorder
- p.Gly519Ser No assertion criteria ARFGAP2-related disorder ⚠
Uncertain significance 54
- p.Ala227Thr Single submitter ⚠
- p.Ala259Thr Single submitter ⚠
- p.Ala266Val Single submitter ⚠
- p.Ala272Thr Single submitter ⚠
- p.Ala421Val Single submitter ⚠
- p.Ala443Val Single submitter ⚠
- p.Ala500Pro Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg255Gly Single submitter ⚠
- p.Arg255His Single submitter ⚠
- p.Arg285Leu Single submitter ⚠
- p.Arg300Gln Single submitter ⚠
- p.Arg397Gln Single submitter ⚠
- p.Arg406Gln Single submitter ⚠
- p.Arg412Trp Single submitter ⚠
- p.Arg439Trp Single submitter ⚠
- p.Arg78Trp Single submitter ⚠
- p.Asn405His Single submitter ⚠
- p.Asn482Ile Single submitter ⚠
- p.Asn71Ser Single submitter ⚠
- p.Gln239Glu Single submitter ⚠
- p.Glu289Gly Single submitter ⚠
- p.Glu386Asp Single submitter ⚠
- p.Glu390Gln Single submitter ⚠
- p.Glu417Lys Single submitter ⚠
- p.Gly122Glu Single submitter ⚠
- p.Gly349Asp Single submitter ⚠
- p.Gly366Glu Single submitter ⚠
- p.Gly370Asp Single submitter ⚠
- p.Gly474Arg Single submitter ⚠
- p.Ile213Thr Single submitter ⚠
- p.Leu225Val Single submitter ⚠
- p.Leu514Trp Single submitter ⚠
- p.Lys15Glu Single submitter ⚠
- p.Lys24Arg Single submitter ⚠
- p.Lys264Glu Single submitter ⚠
- p.Lys286Met Single submitter ⚠
- p.Lys387Glu Single submitter ⚠
- p.Met138Val Single submitter ⚠
- p.Met274Val Single submitter ⚠
- p.Pro167Leu Single submitter ⚠
- p.Pro171Thr Single submitter ⚠
- p.Pro189Leu Single submitter ⚠
- p.Pro202Ser Single submitter ⚠
- p.Pro21Ser Single submitter ⚠
- p.Ser334Asn Single submitter ⚠
- p.Ser337Ala Single submitter ⚠
- p.Ser340Thr Single submitter ⚠
- p.Ser368Gly Single submitter ⚠
- p.Ser38Gly Single submitter ⚠
- p.Ser520Thr Single submitter ⚠
- p.Thr89Met Single submitter ⚠
- p.Thr8Ser Single submitter ⚠
- p.Val483Met Single submitter ⚠