ARHGEF10L — 199 ClinVar variants
All ClinVar germline ARHGEF10L variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 183 flagged for review →
1 Likely pathogenic · 8 Benign · 10 Likely benign · 180 Uncertain significance
Full ARHGEF10L gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 183
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 113
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ARHGEF10L p.Ala100Gly Uncertain significance Single submitter
- ARHGEF10L p.Ala1117Thr Uncertain significance Single submitter
- ARHGEF10L p.Ala1181Glu Uncertain significance Single submitter
- ARHGEF10L p.Ala1181Thr Uncertain significance Single submitter
- ARHGEF10L p.Ala1199Thr Uncertain significance Single submitter
- ARHGEF10L p.Ala1227Val Uncertain significance Single submitter
- ARHGEF10L p.Ala155Ser Uncertain significance Single submitter
- ARHGEF10L p.Ala158Thr Uncertain significance Single submitter
- ARHGEF10L p.Ala379Thr Uncertain significance Single submitter
- ARHGEF10L p.Ala49Val Uncertain significance Single submitter
- ARHGEF10L p.Ala635Thr Uncertain significance Single submitter
- ARHGEF10L p.Ala784Thr Uncertain significance Single submitter
- ARHGEF10L p.Arg1094Gln Uncertain significance Single submitter
- ARHGEF10L p.Arg1132Gln Uncertain significance Single submitter
- ARHGEF10L p.Arg1142Gln Uncertain significance Single submitter
- ARHGEF10L p.Arg1167Leu Uncertain significance Single submitter
- ARHGEF10L p.Arg116Ser Uncertain significance Single submitter
- ARHGEF10L p.Arg1176His Uncertain significance Single submitter
- ARHGEF10L p.Arg1178Leu Uncertain significance Single submitter
- ARHGEF10L p.Arg1222His Uncertain significance Single submitter
- ARHGEF10L p.Arg1228Ser Uncertain significance Single submitter
- ARHGEF10L p.Arg1232His Uncertain significance Single submitter
- ARHGEF10L p.Arg157Gln Uncertain significance Single submitter
- ARHGEF10L p.Arg365Cys Uncertain significance Single submitter
- ARHGEF10L p.Arg505Trp Uncertain significance Single submitter
- ARHGEF10L p.Arg551His Uncertain significance Single submitter
- ARHGEF10L p.Arg59Gly Uncertain significance Single submitter
- ARHGEF10L p.Arg793Gln Uncertain significance Single submitter
- ARHGEF10L p.Asp1146Gly Uncertain significance Single submitter
- ARHGEF10L p.Asp118Glu Uncertain significance Single submitter
- ARHGEF10L p.Asp1207Asn Uncertain significance Single submitter
- ARHGEF10L p.Asp133Asn Uncertain significance Single submitter
- ARHGEF10L p.Asp408Glu Uncertain significance Single submitter
- ARHGEF10L p.Asp471Asn Uncertain significance Single submitter
- ARHGEF10L p.Asp621Glu Uncertain significance Single submitter
- ARHGEF10L p.Asp62Glu Uncertain significance Single submitter
- ARHGEF10L p.Asp982Glu Uncertain significance Single submitter
- ARHGEF10L p.Cys785Arg Uncertain significance Single submitter
- ARHGEF10L p.Gln1174Arg Uncertain significance Single submitter
- ARHGEF10L p.Gln914Pro Uncertain significance Single submitter
- ARHGEF10L p.Gln9Arg Uncertain significance Single submitter
- ARHGEF10L p.Glu1045Ala Uncertain significance Single submitter
- ARHGEF10L p.Glu1192Asp Uncertain significance Single submitter
- ARHGEF10L p.Glu1234Gly Uncertain significance Single submitter
- ARHGEF10L p.Glu1265Gln Uncertain significance Single submitter
- ARHGEF10L p.Glu1265Lys Uncertain significance Single submitter
- ARHGEF10L p.Glu190Lys Uncertain significance Single submitter
- ARHGEF10L p.Glu833Lys Uncertain significance Single submitter
- ARHGEF10L p.Glu871Val Uncertain significance Single submitter
- ARHGEF10L p.Glu961Asp Uncertain significance Single submitter
- ARHGEF10L p.Gly1255Asp Uncertain significance Single submitter
- ARHGEF10L p.Gly228Ala Uncertain significance Single submitter
- ARHGEF10L p.Gly228Val Uncertain significance Single submitter
- ARHGEF10L p.Gly583Val Uncertain significance Single submitter
- ARHGEF10L p.Gly594Glu Uncertain significance Single submitter
- ARHGEF10L p.Gly617Asp Uncertain significance Single submitter
- ARHGEF10L p.Gly618Arg Uncertain significance Single submitter
- ARHGEF10L p.Gly648Ser Uncertain significance Single submitter
- ARHGEF10L p.Gly726Ser Uncertain significance Single submitter
- ARHGEF10L p.His1153Gln Uncertain significance Single submitter
- ARHGEF10L p.His156Arg Uncertain significance Single submitter
- ARHGEF10L p.Ile894Val Uncertain significance Single submitter
- ARHGEF10L p.Leu150Val Uncertain significance Single submitter
- ARHGEF10L p.Leu565Phe Uncertain significance Single submitter
- ARHGEF10L p.Lys1100Arg Uncertain significance Single submitter
- ARHGEF10L p.Lys457Arg Uncertain significance Single submitter
- ARHGEF10L p.Met1106Val Uncertain significance Single submitter
- ARHGEF10L p.Met232Thr Uncertain significance Single submitter
- ARHGEF10L p.Phe101Leu Uncertain significance Single submitter
- ARHGEF10L p.Phe1058Ile Uncertain significance Single submitter
- ARHGEF10L p.Pro1186Leu Uncertain significance Single submitter
- ARHGEF10L p.Pro1193Leu Uncertain significance Single submitter
- ARHGEF10L p.Pro1225His Uncertain significance Single submitter
- ARHGEF10L p.Pro1262Leu Uncertain significance Single submitter
- ARHGEF10L p.Pro161Ser Uncertain significance Single submitter
- ARHGEF10L p.Pro578Arg Uncertain significance Single submitter
- ARHGEF10L p.Pro72Ser Uncertain significance Single submitter
- ARHGEF10L p.Pro768Leu Uncertain significance Single submitter
- ARHGEF10L p.Pro781Leu Uncertain significance Single submitter
- ARHGEF10L p.Pro82Ala Uncertain significance Single submitter
- ARHGEF10L p.Pro881Leu Uncertain significance Single submitter
- ARHGEF10L p.Ser281Leu Uncertain significance Single submitter
- ARHGEF10L p.Ser294Leu Uncertain significance Single submitter
- ARHGEF10L p.Ser400Leu Uncertain significance Single submitter
- ARHGEF10L p.Ser708Leu Uncertain significance Single submitter
- ARHGEF10L p.Ser730Gly Uncertain significance Single submitter
- ARHGEF10L p.Ser820Cys Uncertain significance Single submitter
- ARHGEF10L p.Ser848Leu Uncertain significance Single submitter
- ARHGEF10L p.Ser876Arg Uncertain significance Single submitter
- ARHGEF10L p.Ser887Leu Uncertain significance Single submitter
- ARHGEF10L p.Ser953Arg Uncertain significance Single submitter
- ARHGEF10L p.Ser962Arg Uncertain significance Single submitter
- ARHGEF10L p.Thr1057Ala Uncertain significance Single submitter
- ARHGEF10L p.Thr244Ala Uncertain significance Single submitter
- ARHGEF10L p.Thr244Ser Uncertain significance Single submitter
- ARHGEF10L p.Thr450Ser Uncertain significance Single submitter
- ARHGEF10L p.Thr998Ala Uncertain significance Single submitter
- ARHGEF10L p.Trp827Ser Uncertain significance Single submitter
- ARHGEF10L p.Tyr152Phe Uncertain significance Single submitter
- ARHGEF10L p.Val1086Ala Uncertain significance Single submitter
- ARHGEF10L p.Val1088Ile Uncertain significance Single submitter
- ARHGEF10L p.Val198Leu Uncertain significance Single submitter
- ARHGEF10L p.Val227Ala Uncertain significance Single submitter
- ARHGEF10L p.Val269Ile Uncertain significance Single submitter
- ARHGEF10L p.Val291Ile Uncertain significance Single submitter
- ARHGEF10L p.Val443Leu Uncertain significance Single submitter
- ARHGEF10L p.Val449Ile Uncertain significance Single submitter
- ARHGEF10L p.Val52Ile Uncertain significance Single submitter
- ARHGEF10L p.Val665Met Uncertain significance Single submitter
- ARHGEF10L p.Val701Met Uncertain significance Single submitter
- ARHGEF10L p.Val890Ala Uncertain significance Single submitter
- ARHGEF10L p.Val890Leu Uncertain significance Single submitter
- ARHGEF10L p.Val917Leu Uncertain significance Single submitter
Predictors split 70
The independent predictors disagree with each other — read with care.
- ARHGEF10L p.Arg105Gln Benign Multiple submitters
- ARHGEF10L p.Ala250Thr Uncertain significance Single submitter
- ARHGEF10L p.Ala604Thr Uncertain significance Single submitter
- ARHGEF10L p.Ala604Val Uncertain significance Single submitter
- ARHGEF10L p.Arg1037His Uncertain significance Single submitter
- ARHGEF10L p.Arg105Trp Uncertain significance Single submitter
- ARHGEF10L p.Arg111Gln Uncertain significance Single submitter
- ARHGEF10L p.Arg1142Trp Uncertain significance Single submitter
- ARHGEF10L p.Arg115Cys Uncertain significance Single submitter
- ARHGEF10L p.Arg115His Uncertain significance Single submitter
- ARHGEF10L p.Arg1191Trp Uncertain significance Single submitter
- ARHGEF10L p.Arg119Trp Uncertain significance Single submitter
- ARHGEF10L p.Arg1228Cys Uncertain significance Single submitter
- ARHGEF10L p.Arg1232Cys Uncertain significance Single submitter
- ARHGEF10L p.Arg157Trp Uncertain significance Single submitter
- ARHGEF10L p.Arg214Ile Uncertain significance Single submitter
- ARHGEF10L p.Arg365His Uncertain significance Single submitter
- ARHGEF10L p.Arg535Gln Uncertain significance Single submitter
- ARHGEF10L p.Arg551Pro Uncertain significance Single submitter
- ARHGEF10L p.Arg700Trp Uncertain significance Single submitter
- ARHGEF10L p.Arg749Ser Uncertain significance Single submitter
- ARHGEF10L p.Arg951Gln Uncertain significance Single submitter
- ARHGEF10L p.Arg975Cys Uncertain significance Single submitter
- ARHGEF10L p.Arg975His Uncertain significance Single submitter
- ARHGEF10L p.Arg991Gln Uncertain significance Single submitter
- ARHGEF10L p.Asp1011Gly Uncertain significance Single submitter
- ARHGEF10L p.Asp1215Asn Uncertain significance Single submitter
-
ARHGEF10L p.Asp1216Asn
Likely pathogenic
Single submitter
Cerebral visual impairment and intellectual disability
- ARHGEF10L p.Asp1218Asn Uncertain significance Single submitter
- ARHGEF10L p.Cys1067Phe Uncertain significance Single submitter
- ARHGEF10L p.Gln360Leu Uncertain significance Single submitter
- ARHGEF10L p.Glu1137Lys Uncertain significance Single submitter
- ARHGEF10L p.Glu137Lys Uncertain significance Single submitter
- ARHGEF10L p.Glu153Lys Uncertain significance Single submitter
- ARHGEF10L p.Glu43Lys Uncertain significance Single submitter
- ARHGEF10L p.Gly1033Ser Uncertain significance Single submitter
- ARHGEF10L p.Gly1097Val Uncertain significance Single submitter
- ARHGEF10L p.Gly1185Arg Uncertain significance Single submitter
- ARHGEF10L p.Gly228Glu Uncertain significance Single submitter
- ARHGEF10L p.Gly831Arg Uncertain significance Single submitter
- ARHGEF10L p.Gly955Val Uncertain significance Single submitter
- ARHGEF10L p.Leu1177Gln Uncertain significance Single submitter
- ARHGEF10L p.Leu1188Ile Uncertain significance Single submitter
- ARHGEF10L p.Met1028Ile Uncertain significance Single submitter
- ARHGEF10L p.Met405Leu Uncertain significance Single submitter
- ARHGEF10L p.Phe1006Leu Uncertain significance Single submitter
- ARHGEF10L p.Pro1061Leu Uncertain significance Single submitter
- ARHGEF10L p.Pro1184Gln Uncertain significance Single submitter
- ARHGEF10L p.Pro1184Leu Uncertain significance Single submitter
- ARHGEF10L p.Pro650Arg Uncertain significance Single submitter
- ARHGEF10L p.Pro868Leu Uncertain significance Single submitter
- ARHGEF10L p.Pro973Ala Uncertain significance Single submitter
- ARHGEF10L p.Ser1015Arg Uncertain significance Single submitter
- ARHGEF10L p.Ser1015Asn Uncertain significance Single submitter
- ARHGEF10L p.Ser1031Phe Uncertain significance Single submitter
- ARHGEF10L p.Ser1032Phe Uncertain significance Single submitter
- ARHGEF10L p.Ser422Phe Uncertain significance Single submitter
- ARHGEF10L p.Ser4Phe Uncertain significance Single submitter
- ARHGEF10L p.Ser54Asn Uncertain significance Single submitter
- ARHGEF10L p.Ser791Phe Uncertain significance Single submitter
- ARHGEF10L p.Ser962Asn Uncertain significance Single submitter
- ARHGEF10L p.Thr1123Ile Benign Single submitter
- ARHGEF10L p.Thr542Met Uncertain significance Single submitter
- ARHGEF10L p.Thr889Met Uncertain significance Single submitter
- ARHGEF10L p.Val1020Met Uncertain significance Single submitter
- ARHGEF10L p.Val332Met Uncertain significance Single submitter
- ARHGEF10L p.Val520Ile Uncertain significance Single submitter
- ARHGEF10L p.Val883Phe Uncertain significance Single submitter
- ARHGEF10L p.Val965Ala Uncertain significance Single submitter
-
ARHGEF10L p.Arg713Cys
Uncertain significance
No assertion criteria
teratoma
All ARHGEF10L variants
Likely pathogenic 1
- p.Asp1216Asn Single submitter Cerebral visual impairment and intellectual disability ⚠
Benign 8
- c.1200+10C>T Multiple submitters
- p.Arg105Gln Multiple submitters ⚠
- p.Arg1222Cys Multiple submitters
- p.Arg448= Multiple submitters
- p.Cys571= Multiple submitters
- c.1021-4G>T Single submitter
- p.Ala604= Single submitter
- p.Thr1123Ile Single submitter ⚠
Likely benign 10
- p.Ala1253Thr Single submitter
- p.Ala194Thr Single submitter
- p.Ala664= Single submitter
- p.Ala97Glu Single submitter
- p.Arg440= Single submitter
- p.Arg582= Single submitter
- p.Gly84Ser Single submitter
- p.Ile324= Single submitter
- p.Ser485= Single submitter
- p.Thr1180= Single submitter
Uncertain significance 180
- p.Ala100Gly Single submitter ⚠
- p.Ala1117Thr Single submitter ⚠
- p.Ala1181Glu Single submitter ⚠
- p.Ala1181Thr Single submitter ⚠
- p.Ala1199Thr Single submitter ⚠
- p.Ala1227Val Single submitter ⚠
- p.Ala155Ser Single submitter ⚠
- p.Ala158Thr Single submitter ⚠
- p.Ala250Thr Single submitter ⚠
- p.Ala379Thr Single submitter ⚠
- p.Ala49Val Single submitter ⚠
- p.Ala604Thr Single submitter ⚠
- p.Ala604Val Single submitter ⚠
- p.Ala635Thr Single submitter ⚠
- p.Ala784Thr Single submitter ⚠
- p.Arg1037His Single submitter ⚠
- p.Arg105Trp Single submitter ⚠
- p.Arg1094Gln Single submitter ⚠
- p.Arg111Gln Single submitter ⚠
- p.Arg1132Gln Single submitter ⚠
- p.Arg1142Gln Single submitter ⚠
- p.Arg1142Trp Single submitter ⚠
- p.Arg115Cys Single submitter ⚠
- p.Arg115His Single submitter ⚠
- p.Arg1167Leu Single submitter ⚠
- p.Arg116Ser Single submitter ⚠
- p.Arg1176His Single submitter ⚠
- p.Arg1178Leu Single submitter ⚠
- p.Arg1191Trp Single submitter ⚠
- p.Arg119Trp Single submitter ⚠
- p.Arg1222His Single submitter ⚠
- p.Arg1228Cys Single submitter ⚠
- p.Arg1228Ser Single submitter ⚠
- p.Arg1232Cys Single submitter ⚠
- p.Arg1232His Single submitter ⚠
- p.Arg157Gln Single submitter ⚠
- p.Arg157Trp Single submitter ⚠
- p.Arg214Ile Single submitter ⚠
- p.Arg365Cys Single submitter ⚠
- p.Arg365His Single submitter ⚠
- p.Arg505Trp Single submitter ⚠
- p.Arg535Gln Single submitter ⚠
- p.Arg551His Single submitter ⚠
- p.Arg551Pro Single submitter ⚠
- p.Arg59Gly Single submitter ⚠
- p.Arg700Trp Single submitter ⚠
- p.Arg749Ser Single submitter ⚠
- p.Arg793Gln Single submitter ⚠
- p.Arg951Gln Single submitter ⚠
- p.Arg975Cys Single submitter ⚠
- p.Arg975His Single submitter ⚠
- p.Arg991Gln Single submitter ⚠
- p.Asp1011Gly Single submitter ⚠
- p.Asp1146Gly Single submitter ⚠
- p.Asp118Glu Single submitter ⚠
- p.Asp1207Asn Single submitter ⚠
- p.Asp1215Asn Single submitter ⚠
- p.Asp1218Asn Single submitter ⚠
- p.Asp133Asn Single submitter ⚠
- p.Asp408Glu Single submitter ⚠
- p.Asp471Asn Single submitter ⚠
- p.Asp621Glu Single submitter ⚠
- p.Asp62Glu Single submitter ⚠
- p.Asp982Glu Single submitter ⚠
- p.Cys1067Phe Single submitter ⚠
- p.Cys785Arg Single submitter ⚠
- p.Gln1174Arg Single submitter ⚠
- p.Gln360Leu Single submitter ⚠
- p.Gln914Pro Single submitter ⚠
- p.Gln9Arg Single submitter ⚠
- p.Glu1045Ala Single submitter ⚠
- p.Glu1137Lys Single submitter ⚠
- p.Glu1192Asp Single submitter ⚠
- p.Glu1234Gly Single submitter ⚠
- p.Glu1265Gln Single submitter ⚠
- p.Glu1265Lys Single submitter ⚠
- p.Glu137Lys Single submitter ⚠
- p.Glu153Lys Single submitter ⚠
- p.Glu190Lys Single submitter ⚠
- p.Glu43Lys Single submitter ⚠
- p.Glu833Lys Single submitter ⚠
- p.Glu871Val Single submitter ⚠
- p.Glu961Asp Single submitter ⚠
- p.Gly1033Ser Single submitter ⚠
- p.Gly1097Val Single submitter ⚠
- p.Gly1185Arg Single submitter ⚠
- p.Gly1255Asp Single submitter ⚠
- p.Gly228Ala Single submitter ⚠
- p.Gly228Glu Single submitter ⚠
- p.Gly228Val Single submitter ⚠
- p.Gly583Val Single submitter ⚠
- p.Gly594Glu Single submitter ⚠
- p.Gly617Asp Single submitter ⚠
- p.Gly618Arg Single submitter ⚠
- p.Gly648Ser Single submitter ⚠
- p.Gly726Ser Single submitter ⚠
- p.Gly831Arg Single submitter ⚠
- p.Gly955Val Single submitter ⚠
- p.His1153Gln Single submitter ⚠
- p.His156Arg Single submitter ⚠
- p.Ile894Val Single submitter ⚠
- p.Leu1177Gln Single submitter ⚠
- p.Leu1188Ile Single submitter ⚠
- p.Leu150Val Single submitter ⚠
- p.Leu565Phe Single submitter ⚠
- p.Lys1100Arg Single submitter ⚠
- p.Lys457Arg Single submitter ⚠
- p.Met1028Ile Single submitter ⚠
- p.Met1106Val Single submitter ⚠
- p.Met232Thr Single submitter ⚠
- p.Met405Leu Single submitter ⚠
- p.Phe1006Leu Single submitter ⚠
- p.Phe101Leu Single submitter ⚠
- p.Phe1058Ile Single submitter ⚠
- p.Pro1061Leu Single submitter ⚠
- p.Pro1184Gln Single submitter ⚠
- p.Pro1184Leu Single submitter ⚠
- p.Pro1186Leu Single submitter ⚠
- p.Pro1193Leu Single submitter ⚠
- p.Pro1225His Single submitter ⚠
- p.Pro1262Leu Single submitter ⚠
- p.Pro161Ser Single submitter ⚠
- p.Pro578Arg Single submitter ⚠
- p.Pro650Arg Single submitter ⚠
- p.Pro72Ser Single submitter ⚠
- p.Pro768Leu Single submitter ⚠
- p.Pro781Leu Single submitter ⚠
- p.Pro82Ala Single submitter ⚠
- p.Pro868Leu Single submitter ⚠
- p.Pro881Leu Single submitter ⚠
- p.Pro973Ala Single submitter ⚠
- p.Ser1015Arg Single submitter ⚠
- p.Ser1015Asn Single submitter ⚠
- p.Ser1031Phe Single submitter ⚠
- p.Ser1032Phe Single submitter ⚠
- p.Ser281Leu Single submitter ⚠
- p.Ser294Leu Single submitter ⚠
- p.Ser400Leu Single submitter ⚠
- p.Ser422Phe Single submitter ⚠
- p.Ser4Phe Single submitter ⚠
- p.Ser54Asn Single submitter ⚠
- p.Ser708Leu Single submitter ⚠
- p.Ser730Gly Single submitter ⚠
- p.Ser791Phe Single submitter ⚠
- p.Ser820Cys Single submitter ⚠
- p.Ser848Leu Single submitter ⚠
- p.Ser876Arg Single submitter ⚠
- p.Ser887Leu Single submitter ⚠
- p.Ser953Arg Single submitter ⚠
- p.Ser962Arg Single submitter ⚠
- p.Ser962Asn Single submitter ⚠
- p.Thr1057Ala Single submitter ⚠
- p.Thr244Ala Single submitter ⚠
- p.Thr244Ser Single submitter ⚠
- p.Thr450Ser Single submitter ⚠
- p.Thr542Met Single submitter ⚠
- p.Thr889Met Single submitter ⚠
- p.Thr998Ala Single submitter ⚠
- p.Trp827Ser Single submitter ⚠
- p.Tyr152Phe Single submitter ⚠
- p.Val1020Met Single submitter ⚠
- p.Val1086Ala Single submitter ⚠
- p.Val1088Ile Single submitter ⚠
- p.Val198Leu Single submitter ⚠
- p.Val227Ala Single submitter ⚠
- p.Val269Ile Single submitter ⚠
- p.Val291Ile Single submitter ⚠
- p.Val332Met Single submitter ⚠
- p.Val443Leu Single submitter ⚠
- p.Val449Ile Single submitter ⚠
- p.Val520Ile Single submitter ⚠
- p.Val52Ile Single submitter ⚠
- p.Val665Met Single submitter ⚠
- p.Val701Met Single submitter ⚠
- p.Val883Phe Single submitter ⚠
- p.Val890Ala Single submitter ⚠
- p.Val890Leu Single submitter ⚠
- p.Val917Leu Single submitter ⚠
- p.Val965Ala Single submitter ⚠
- p.Arg713Cys No assertion criteria teratoma ⚠