ARIH2 — 43 ClinVar variants
All ClinVar germline ARIH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
1 Likely pathogenic · 1 Likely benign · 41 Uncertain significance
Full ARIH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARIH2 p.Ala231Thr Uncertain significance Single submitter
- ARIH2 p.Arg147Gly Uncertain significance Single submitter
- ARIH2 p.Arg162His Uncertain significance Single submitter
- ARIH2 p.Arg238Trp Uncertain significance Single submitter
- ARIH2 p.Asn112Ser Uncertain significance Single submitter
- ARIH2 p.Asn150Lys Uncertain significance Single submitter
- ARIH2 p.Asn150Thr Uncertain significance Single submitter
- ARIH2 p.Asn203Ser Uncertain significance Single submitter
- ARIH2 p.Asn250Ser Uncertain significance Single submitter
- ARIH2 p.Asn253Ser Uncertain significance Single submitter
- ARIH2 p.Asp11Gly Uncertain significance Single submitter
- ARIH2 p.Asp187Glu Uncertain significance Single submitter
- ARIH2 p.Asp468Glu Uncertain significance Single submitter
- ARIH2 p.Cys63Phe Uncertain significance Single submitter
- ARIH2 p.Gln101Glu Uncertain significance Single submitter
- ARIH2 p.Gln157Arg Uncertain significance Single submitter
- ARIH2 p.Gln159Pro Uncertain significance Single submitter
- ARIH2 p.Gln186Arg Uncertain significance Single submitter
- ARIH2 p.Gly437Arg Uncertain significance Single submitter
- ARIH2 p.His320Tyr Uncertain significance Single submitter
- ARIH2 p.Leu152Val Uncertain significance Single submitter
- ARIH2 p.Lys317Arg Uncertain significance Single submitter
- ARIH2 p.Lys67Gln Uncertain significance Single submitter
- ARIH2 p.Met5Val Uncertain significance Single submitter
- ARIH2 p.Pro135His Uncertain significance Single submitter
- ARIH2 p.Ser79Gly Uncertain significance Single submitter
- ARIH2 p.Thr493Asn Uncertain significance Single submitter
- ARIH2 p.Thr62Ser Uncertain significance Single submitter
- ARIH2 p.Val118Phe Uncertain significance Single submitter
- ARIH2 p.Val130Ile Uncertain significance Single submitter
- ARIH2 p.Val177Met Uncertain significance Single submitter
- ARIH2 p.Val255Ala Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ARIH2 p.Ala479Val Uncertain significance Single submitter
- ARIH2 p.Arg211Ser Uncertain significance Single submitter
- ARIH2 p.Arg388Gln Uncertain significance Single submitter
- ARIH2 p.Glu57Lys Uncertain significance Single submitter
- ARIH2 p.Thr423Ser Uncertain significance Single submitter
-
ARIH2 p.Asp283Asn
Uncertain significance
No assertion criteria
myoepithelial tumor
All ARIH2 variants
Likely pathogenic 1
- c.1411-3C>T No assertion criteria autism spectrum disorder
Likely benign 1
- p.Val173Ile Single submitter
Uncertain significance 41
- p.Ala231Thr Single submitter ⚠
- p.Ala356Val Single submitter
- p.Ala479Val Single submitter ⚠
- p.Arg147Gly Single submitter ⚠
- p.Arg162His Single submitter ⚠
- p.Arg211Ser Single submitter ⚠
- p.Arg238Trp Single submitter ⚠
- p.Arg388Gln Single submitter ⚠
- p.Asn112Ser Single submitter ⚠
- p.Asn150Lys Single submitter ⚠
- p.Asn150Thr Single submitter ⚠
- p.Asn203Ser Single submitter ⚠
- p.Asn250Ser Single submitter ⚠
- p.Asn253Ser Single submitter ⚠
- p.Asp11Gly Single submitter ⚠
- p.Asp187Glu Single submitter ⚠
- p.Asp468Glu Single submitter ⚠
- p.Cys63Phe Single submitter ⚠
- p.Gln101Glu Single submitter ⚠
- p.Gln157Arg Single submitter ⚠
- p.Gln159Pro Single submitter ⚠
- p.Gln186Arg Single submitter ⚠
- p.Glu57Lys Single submitter ⚠
- p.Gly437Arg Single submitter ⚠
- p.His320Tyr Single submitter ⚠
- p.Leu152Val Single submitter ⚠
- p.Lys317Arg Single submitter ⚠
- p.Lys67Gln Single submitter ⚠
- p.Met5Val Single submitter ⚠
- p.Pro135His Single submitter ⚠
- p.Ser79Gly Single submitter ⚠
- p.Thr272Ile Single submitter
- p.Thr423Ser Single submitter ⚠
- p.Thr493Asn Single submitter ⚠
- p.Thr62Ser Single submitter ⚠
- p.Val118Phe Single submitter ⚠
- p.Val130Ile Single submitter ⚠
- p.Val146Ala Single submitter
- p.Val177Met Single submitter ⚠
- p.Val255Ala Single submitter ⚠
- p.Asp283Asn No assertion criteria myoepithelial tumor ⚠