ARHGEF26 — 140 ClinVar variants
All ClinVar germline ARHGEF26 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 135 flagged for review →
1 Likely pathogenic · 4 Likely benign · 135 Uncertain significance
Full ARHGEF26 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 135
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 84
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARHGEF26 p.Ala180Ser Uncertain significance Single submitter
- ARHGEF26 p.Ala242Val Uncertain significance Single submitter
- ARHGEF26 p.Ala423Val Uncertain significance Single submitter
- ARHGEF26 p.Ala786Val Uncertain significance Single submitter
- ARHGEF26 p.Ala852Thr Uncertain significance Single submitter
- ARHGEF26 p.Ala97Ser Uncertain significance Single submitter
- ARHGEF26 p.Arg102Ser Uncertain significance Single submitter
- ARHGEF26 p.Arg145Pro Uncertain significance Single submitter
- ARHGEF26 p.Arg148Pro Uncertain significance Single submitter
- ARHGEF26 p.Arg19Leu Uncertain significance Single submitter
- ARHGEF26 p.Arg200Gln Uncertain significance Single submitter
- ARHGEF26 p.Arg318Cys Uncertain significance Single submitter
- ARHGEF26 p.Arg318His Uncertain significance Single submitter
- ARHGEF26 p.Arg32Gln Uncertain significance Single submitter
- ARHGEF26 p.Arg541Gln Uncertain significance Single submitter
- ARHGEF26 p.Arg675Ser Uncertain significance Single submitter
- ARHGEF26 p.Arg770Gln Uncertain significance Single submitter
- ARHGEF26 p.Arg772Cys Uncertain significance Single submitter
- ARHGEF26 p.Arg79Gly Uncertain significance Single submitter
- ARHGEF26 p.Arg79Lys Uncertain significance Single submitter
- ARHGEF26 p.Asn12Asp Uncertain significance Single submitter
- ARHGEF26 p.Asn181Ser Uncertain significance Single submitter
- ARHGEF26 p.Asn182His Uncertain significance Single submitter
- ARHGEF26 p.Asn266Asp Uncertain significance Single submitter
- ARHGEF26 p.Asn621Ser Uncertain significance Single submitter
- ARHGEF26 p.Gln223Arg Uncertain significance Single submitter
- ARHGEF26 p.Gln223Leu Uncertain significance Single submitter
- ARHGEF26 p.Gln420Glu Uncertain significance Single submitter
- ARHGEF26 p.Gln420His Uncertain significance Single submitter
- ARHGEF26 p.Gln441Lys Uncertain significance Single submitter
- ARHGEF26 p.Gln67Glu Uncertain significance Single submitter
- ARHGEF26 p.Glu159Lys Uncertain significance Single submitter
- ARHGEF26 p.Glu160Gly Uncertain significance Single submitter
- ARHGEF26 p.Glu295Val Uncertain significance Single submitter
- ARHGEF26 p.Glu479Lys Uncertain significance Single submitter
- ARHGEF26 p.Glu720Lys Uncertain significance Single submitter
- ARHGEF26 p.Glu769Lys Uncertain significance Single submitter
- ARHGEF26 p.Gly164Glu Uncertain significance Single submitter
- ARHGEF26 p.Gly201Glu Uncertain significance Single submitter
- ARHGEF26 p.Gly290Asp Uncertain significance Single submitter
- ARHGEF26 p.Gly31Arg Uncertain significance Single submitter
- ARHGEF26 p.Gly782Arg Uncertain significance Single submitter
- ARHGEF26 p.His411Arg Uncertain significance Single submitter
- ARHGEF26 p.His779Arg Uncertain significance Single submitter
- ARHGEF26 p.Ile511Leu Uncertain significance Single submitter
- ARHGEF26 p.Ile644Val Uncertain significance Single submitter
- ARHGEF26 p.Leu108Pro Uncertain significance Single submitter
- ARHGEF26 p.Leu135Phe Uncertain significance Single submitter
- ARHGEF26 p.Leu455Ser Uncertain significance Single submitter
- ARHGEF26 p.Leu84Val Uncertain significance Single submitter
- ARHGEF26 p.Lys196Glu Uncertain significance Single submitter
- ARHGEF26 p.Lys351Arg Uncertain significance Single submitter
- ARHGEF26 p.Lys353Thr Uncertain significance Single submitter
- ARHGEF26 p.Lys362Glu Uncertain significance Single submitter
- ARHGEF26 p.Lys406Glu Uncertain significance Single submitter
- ARHGEF26 p.Lys607Arg Uncertain significance Single submitter
- ARHGEF26 p.Lys695Gln Uncertain significance Single submitter
- ARHGEF26 p.Met348Val Uncertain significance Single submitter
- ARHGEF26 p.Met571Leu Uncertain significance Single submitter
- ARHGEF26 p.Met589Leu Uncertain significance Single submitter
- ARHGEF26 p.Met633Ile Uncertain significance Single submitter
- ARHGEF26 p.Met733Val Uncertain significance Single submitter
- ARHGEF26 p.Pro117Ala Uncertain significance Single submitter
- ARHGEF26 p.Pro117Ser Uncertain significance Single submitter
- ARHGEF26 p.Pro146Leu Uncertain significance Single submitter
- ARHGEF26 p.Pro147Ala Uncertain significance Single submitter
- ARHGEF26 p.Pro185Thr Uncertain significance Single submitter
- ARHGEF26 p.Pro24Leu Uncertain significance Single submitter
- ARHGEF26 p.Pro43Ser Uncertain significance Single submitter
- ARHGEF26 p.Pro570Ala Uncertain significance Single submitter
- ARHGEF26 p.Pro65Thr Uncertain significance Single submitter
- ARHGEF26 p.Pro784Leu Uncertain significance Single submitter
- ARHGEF26 p.Pro785Arg Uncertain significance Single submitter
- ARHGEF26 p.Ser13Asn Uncertain significance Single submitter
- ARHGEF26 p.Ser187Leu Uncertain significance Single submitter
- ARHGEF26 p.Ser42Thr Uncertain significance Single submitter
- ARHGEF26 p.Ser430Cys Uncertain significance Single submitter
- ARHGEF26 p.Thr149Pro Uncertain significance Single submitter
- ARHGEF26 p.Thr635Arg Uncertain significance Single submitter
- ARHGEF26 p.Thr70Ser Uncertain significance Single submitter
- ARHGEF26 p.Trp418Arg Uncertain significance Single submitter
- ARHGEF26 p.Val605Ile Uncertain significance Single submitter
- ARHGEF26 p.Val816Gly Uncertain significance Single submitter
- ARHGEF26 p.Val871Met Uncertain significance Single submitter
Predictors split 51
The independent predictors disagree with each other — read with care.
- ARHGEF26 p.Arg32Trp Uncertain significance Single submitter
- ARHGEF26 p.Arg338Ser Uncertain significance Single submitter
- ARHGEF26 p.Arg625Gln Uncertain significance Single submitter
- ARHGEF26 p.Arg833Gln Uncertain significance Single submitter
- ARHGEF26 p.Asn266Tyr Uncertain significance Single submitter
- ARHGEF26 p.Gln680His Uncertain significance Single submitter
- ARHGEF26 p.Glu492Lys Uncertain significance Single submitter
- ARHGEF26 p.Glu769Gln Uncertain significance Single submitter
- ARHGEF26 p.Gly428Arg Uncertain significance Single submitter
- ARHGEF26 p.Gly45Arg Uncertain significance Single submitter
- ARHGEF26 p.His743Arg Uncertain significance Single submitter
- ARHGEF26 p.Ile448Met Uncertain significance Single submitter
- ARHGEF26 p.Ile509Thr Uncertain significance Single submitter
- ARHGEF26 p.Ile517Thr Uncertain significance Single submitter
- ARHGEF26 p.Ile796Met Uncertain significance Single submitter
- ARHGEF26 p.Leu108Arg Uncertain significance Single submitter
- ARHGEF26 p.Leu275Phe Uncertain significance Single submitter
- ARHGEF26 p.Leu276Phe Uncertain significance Single submitter
- ARHGEF26 p.Leu461Met Uncertain significance Single submitter
- ARHGEF26 p.Leu708Val Uncertain significance Single submitter
- ARHGEF26 p.Lys696Arg Uncertain significance Single submitter
- ARHGEF26 p.Phe51Leu Uncertain significance Single submitter
- ARHGEF26 p.Pro106Leu Uncertain significance Single submitter
- ARHGEF26 p.Pro106Ser Uncertain significance Single submitter
- ARHGEF26 p.Pro117Thr Uncertain significance Single submitter
- ARHGEF26 p.Pro142Leu Uncertain significance Single submitter
- ARHGEF26 p.Pro342Arg Uncertain significance Single submitter
- ARHGEF26 p.Pro601Leu Uncertain significance Single submitter
- ARHGEF26 p.Pro99Leu Uncertain significance Single submitter
- ARHGEF26 p.Ser105Phe Uncertain significance Single submitter
- ARHGEF26 p.Ser127Cys Uncertain significance Single submitter
- ARHGEF26 p.Ser172Leu Uncertain significance Single submitter
- ARHGEF26 p.Ser211Ala Uncertain significance Single submitter
- ARHGEF26 p.Ser211Leu Likely benign Single submitter
- ARHGEF26 p.Ser211Trp Uncertain significance Single submitter
- ARHGEF26 p.Ser329Ile Uncertain significance Single submitter
- ARHGEF26 p.Ser392Cys Uncertain significance Single submitter
- ARHGEF26 p.Ser39Phe Uncertain significance Single submitter
- ARHGEF26 p.Ser725Pro Uncertain significance Single submitter
- ARHGEF26 p.Ser751Thr Uncertain significance Single submitter
- ARHGEF26 p.Ser768Arg Uncertain significance Single submitter
- ARHGEF26 p.Ser809Cys Uncertain significance Single submitter
- ARHGEF26 p.Ser80Asn Uncertain significance Single submitter
- ARHGEF26 p.Thr49Met Uncertain significance Single submitter
- ARHGEF26 p.Thr766Met Uncertain significance Single submitter
- ARHGEF26 p.Thr76Met Uncertain significance Single submitter
- ARHGEF26 p.Thr789Pro Uncertain significance Single submitter
- ARHGEF26 p.Trp18Leu Uncertain significance Single submitter
- ARHGEF26 p.Val68Met Uncertain significance Single submitter
- ARHGEF26 p.Val758Met Uncertain significance Single submitter
- ARHGEF26 p.Val816Ile Uncertain significance Single submitter
All ARHGEF26 variants
Likely pathogenic 1
- c.1083+1G>T Single submitter muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14
Likely benign 4
- p.Asn266Ser Single submitter
- p.Asn44Ser Single submitter
- p.Ser211Leu Single submitter ⚠
- p.Val797Ile Single submitter
Uncertain significance 135
- p.Ala180Ser Single submitter ⚠
- p.Ala242Val Single submitter ⚠
- p.Ala423Val Single submitter ⚠
- p.Ala786Val Single submitter ⚠
- p.Ala852Thr Single submitter ⚠
- p.Ala97Ser Single submitter ⚠
- p.Arg102Ser Single submitter ⚠
- p.Arg145Pro Single submitter ⚠
- p.Arg148Pro Single submitter ⚠
- p.Arg19Leu Single submitter ⚠
- p.Arg200Gln Single submitter ⚠
- p.Arg318Cys Single submitter ⚠
- p.Arg318His Single submitter ⚠
- p.Arg32Gln Single submitter ⚠
- p.Arg32Trp Single submitter ⚠
- p.Arg338Ser Single submitter ⚠
- p.Arg541Gln Single submitter ⚠
- p.Arg625Gln Single submitter ⚠
- p.Arg675Ser Single submitter ⚠
- p.Arg770Gln Single submitter ⚠
- p.Arg772Cys Single submitter ⚠
- p.Arg79Gly Single submitter ⚠
- p.Arg79Lys Single submitter ⚠
- p.Arg833Gln Single submitter ⚠
- p.Asn12Asp Single submitter ⚠
- p.Asn181Ser Single submitter ⚠
- p.Asn182His Single submitter ⚠
- p.Asn266Asp Single submitter ⚠
- p.Asn266Tyr Single submitter ⚠
- p.Asn621Ser Single submitter ⚠
- p.Gln223Arg Single submitter ⚠
- p.Gln223Leu Single submitter ⚠
- p.Gln420Glu Single submitter ⚠
- p.Gln420His Single submitter ⚠
- p.Gln441Lys Single submitter ⚠
- p.Gln67Glu Single submitter ⚠
- p.Gln680His Single submitter ⚠
- p.Glu159Lys Single submitter ⚠
- p.Glu160Gly Single submitter ⚠
- p.Glu295Val Single submitter ⚠
- p.Glu479Lys Single submitter ⚠
- p.Glu492Lys Single submitter ⚠
- p.Glu720Lys Single submitter ⚠
- p.Glu769Gln Single submitter ⚠
- p.Glu769Lys Single submitter ⚠
- p.Gly164Glu Single submitter ⚠
- p.Gly201Glu Single submitter ⚠
- p.Gly290Asp Single submitter ⚠
- p.Gly31Arg Single submitter ⚠
- p.Gly428Arg Single submitter ⚠
- p.Gly45Arg Single submitter ⚠
- p.Gly782Arg Single submitter ⚠
- p.His411Arg Single submitter ⚠
- p.His743Arg Single submitter ⚠
- p.His779Arg Single submitter ⚠
- p.Ile448Met Single submitter ⚠
- p.Ile509Thr Single submitter ⚠
- p.Ile511Leu Single submitter ⚠
- p.Ile517Thr Single submitter ⚠
- p.Ile644Val Single submitter ⚠
- p.Ile796Met Single submitter ⚠
- p.Leu108Arg Single submitter ⚠
- p.Leu108Pro Single submitter ⚠
- p.Leu135Phe Single submitter ⚠
- p.Leu275Phe Single submitter ⚠
- p.Leu276Phe Single submitter ⚠
- p.Leu455Ser Single submitter ⚠
- p.Leu461Met Single submitter ⚠
- p.Leu708Val Single submitter ⚠
- p.Leu84Val Single submitter ⚠
- p.Lys196Glu Single submitter ⚠
- p.Lys336del Single submitter Marfanoid habitus and intellectual disability
- p.Lys351Arg Single submitter ⚠
- p.Lys353Thr Single submitter ⚠
- p.Lys362Glu Single submitter ⚠
- p.Lys406Glu Single submitter ⚠
- p.Lys607Arg Single submitter ⚠
- p.Lys695Gln Single submitter ⚠
- p.Lys696Arg Single submitter ⚠
- p.Met348Val Single submitter ⚠
- p.Met571Leu Single submitter ⚠
- p.Met589Leu Single submitter ⚠
- p.Met633Ile Single submitter ⚠
- p.Met733Val Single submitter ⚠
- p.Phe51Leu Single submitter ⚠
- p.Pro106Leu Single submitter ⚠
- p.Pro106Ser Single submitter ⚠
- p.Pro117Ala Single submitter ⚠
- p.Pro117Ser Single submitter ⚠
- p.Pro117Thr Single submitter ⚠
- p.Pro142Leu Single submitter ⚠
- p.Pro146Leu Single submitter ⚠
- p.Pro147Ala Single submitter ⚠
- p.Pro185Thr Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro342Arg Single submitter ⚠
- p.Pro43Ser Single submitter ⚠
- p.Pro570Ala Single submitter ⚠
- p.Pro601Leu Single submitter ⚠
- p.Pro65Thr Single submitter ⚠
- p.Pro784Leu Single submitter ⚠
- p.Pro785Arg Single submitter ⚠
- p.Pro99Leu Single submitter ⚠
- p.Ser105Phe Single submitter ⚠
- p.Ser127Cys Single submitter ⚠
- p.Ser13Asn Single submitter ⚠
- p.Ser172Leu Single submitter ⚠
- p.Ser187Leu Single submitter ⚠
- p.Ser211Ala Single submitter ⚠
- p.Ser211Trp Single submitter ⚠
- p.Ser329Ile Single submitter ⚠
- p.Ser392Cys Single submitter ⚠
- p.Ser39Phe Single submitter ⚠
- p.Ser42Thr Single submitter ⚠
- p.Ser430Cys Single submitter ⚠
- p.Ser725Pro Single submitter ⚠
- p.Ser751Thr Single submitter ⚠
- p.Ser768Arg Single submitter ⚠
- p.Ser809Cys Single submitter ⚠
- p.Ser80Asn Single submitter ⚠
- p.Thr149Pro Single submitter ⚠
- p.Thr49Met Single submitter ⚠
- p.Thr635Arg Single submitter ⚠
- p.Thr70Ser Single submitter ⚠
- p.Thr766Met Single submitter ⚠
- p.Thr76Met Single submitter ⚠
- p.Thr789Pro Single submitter ⚠
- p.Trp18Leu Single submitter ⚠
- p.Trp418Arg Single submitter ⚠
- p.Val605Ile Single submitter ⚠
- p.Val68Met Single submitter ⚠
- p.Val758Met Single submitter ⚠
- p.Val816Gly Single submitter ⚠
- p.Val816Ile Single submitter ⚠
- p.Val871Met Single submitter ⚠