ARHGAP45 — 28 ClinVar variants
All ClinVar germline ARHGAP45 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
10 Benign · 8 Likely benign · 10 Uncertain significance
Full ARHGAP45 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
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 6
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARHGAP45 p.Ala387Thr Uncertain significance Single submitter
- ARHGAP45 p.Ala567Thr Uncertain significance Single submitter
- ARHGAP45 p.Ala74Val Uncertain significance Single submitter
- ARHGAP45 p.Gly44Arg Uncertain significance Single submitter
- ARHGAP45 p.Leu422Phe Uncertain significance Single submitter
- ARHGAP45 p.Pro110Leu Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- ARHGAP45 p.Ala426Val Benign Multiple submitters
- ARHGAP45 p.Glu945Lys Uncertain significance Single submitter
- ARHGAP45 p.Gly1088Arg Uncertain significance Single submitter
- ARHGAP45 p.Pro435Leu Likely benign Single submitter
- ARHGAP45 p.Pro982Arg Uncertain significance Single submitter
- ARHGAP45 p.Thr209Met Uncertain significance Single submitter
All ARHGAP45 variants
Benign 10
- c.422-1836C>T Multiple submitters
- p.Ala426Val Multiple submitters ⚠
- p.Arg139His Multiple submitters
- p.Glu1090Gly Multiple submitters
- p.Leu138= Multiple submitters
- p.Pro1011= Multiple submitters
- p.Ser1032= Multiple submitters
- p.Val805= Multiple submitters
- c.2518-4G>A Single submitter
- p.1086GD[4] Single submitter
Likely benign 8
- p.Gly1019Arg Multiple submitters
- p.Ala865= Single submitter
- p.Glu1014Gln Single submitter
- p.Gly889= Single submitter
- p.Pro435Leu Single submitter ⚠
- p.Pro50= Single submitter
- p.Ser1098= Single submitter
- p.Ser764= Single submitter
Uncertain significance 10
- p.Ala387Thr Single submitter ⚠
- p.Ala567Thr Single submitter ⚠
- p.Ala74Val Single submitter ⚠
- p.Glu945Lys Single submitter ⚠
- p.Gly1088Arg Single submitter ⚠
- p.Gly44Arg Single submitter ⚠
- p.Leu422Phe Single submitter ⚠
- p.Pro110Leu Single submitter ⚠
- p.Pro982Arg Single submitter ⚠
- p.Thr209Met Single submitter ⚠