ARHGEF17 — 376 ClinVar variants

All ClinVar germline ARHGEF17 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 352 flagged for review →

2 Conflicting · 3 Benign · 28 Likely benign · 343 Uncertain significance

Full ARHGEF17 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 352

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 218

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 218

Predictors split 134

The independent predictors disagree with each other — read with care.

All ARHGEF17 variants

Conflicting classifications of pathogenicity 2

p.Arg604His Single submitter ⚠
p.Ser390Arg Single submitter ⚠

Benign 3

p.Asp1593= Multiple submitters
p.Ser239Tyr Multiple submitters ⚠
p.Pro1581= Single submitter

Likely benign 28

p.Ala180Val Single submitter ⚠
p.Ala1978Thr Single submitter ⚠
p.Arg1572Lys Single submitter ⚠
p.Arg388Cys Single submitter ⚠
p.Arg51Pro Single submitter
p.Arg812Cys Single submitter ⚠
p.Arg870Gln Single submitter
p.Arg901Gln Single submitter
p.Arg935Gln Single submitter
p.Arg949Gln Single submitter ⚠
p.Glu579Gln Single submitter
p.Gly1704Ser Single submitter
p.Gly1951Ser Single submitter
p.Gly2050= Single submitter
p.Gly577Ser Single submitter
p.His681Arg Single submitter
p.Ile988Met Single submitter
p.Leu893= Single submitter
p.Met554Val Single submitter
p.Met775Thr Single submitter
p.Pro1035Leu Single submitter
p.Pro1995Ala Single submitter
p.Pro8= Single submitter
p.Ser1002= Single submitter
p.Ser1084= Single submitter
p.Ser1644= Single submitter
p.Ser562Gly Single submitter
p.Thr175= Single submitter

Uncertain significance 343

Showing the top 300 by review status; the full set is in the sitemap.

p.Ala1049Thr Single submitter ⚠
p.Ala111Val Single submitter ⚠
p.Ala114Glu Single submitter ⚠
p.Ala114Ser Single submitter ⚠
p.Ala1240Val Single submitter ⚠
p.Ala1261Val Single submitter ⚠
p.Ala1283Ser Single submitter ⚠
p.Ala1299Val Single submitter ⚠
p.Ala1428Thr Single submitter ⚠
p.Ala1428Val Single submitter ⚠
p.Ala1458Val Single submitter ⚠
p.Ala1503Thr Single submitter ⚠
p.Ala1578Thr Single submitter ⚠
p.Ala1591Asp Single submitter ⚠
p.Ala1600Pro Single submitter ⚠
p.Ala162Pro Single submitter ⚠
p.Ala1800Glu Single submitter ⚠
p.Ala180Thr Single submitter ⚠
p.Ala1864Ser Single submitter ⚠
p.Ala1881Ser Single submitter ⚠
p.Ala1919Thr Single submitter ⚠
p.Ala211Gly Single submitter ⚠
p.Ala237Thr Single submitter ⚠
p.Ala335Ser Single submitter ⚠
p.Ala335Thr Single submitter ⚠
p.Ala385Gly Single submitter ⚠
p.Ala385Ser Single submitter ⚠
p.Ala423Pro Single submitter ⚠
p.Ala468Val Single submitter ⚠
p.Ala578Val Single submitter ⚠
p.Ala607Ser Single submitter ⚠
p.Ala623Val Single submitter ⚠
p.Ala67Asp Single submitter ⚠
p.Ala68Thr Single submitter ⚠
p.Ala727Gly Single submitter ⚠
p.Ala744Thr Single submitter ⚠
p.Ala99Val Single submitter ⚠
p.Arg102Gly Single submitter ⚠
p.Arg1047Gln Single submitter ⚠
p.Arg1132Gln Single submitter ⚠
p.Arg1132Leu Single submitter ⚠
p.Arg1176His Single submitter ⚠
p.Arg1194His Single submitter ⚠
p.Arg1242Trp Single submitter ⚠
p.Arg1250His Single submitter ⚠
p.Arg1256Gln Single submitter ⚠
p.Arg1266Cys Single submitter ⚠
p.Arg1287Trp Single submitter ⚠
p.Arg12Cys Single submitter ⚠
p.Arg1306Gln Single submitter ⚠
p.Arg1322Gln Single submitter ⚠
p.Arg1370Gln Single submitter ⚠
p.Arg1379Cys Single submitter ⚠
p.Arg1379His Single submitter ⚠
p.Arg139Gly Single submitter ⚠
p.Arg139Ser Single submitter ⚠
p.Arg1417Gln Single submitter ⚠
p.Arg1459Cys Single submitter ⚠
p.Arg1459His Single submitter ⚠
p.Arg1534Ser Single submitter ⚠
p.Arg1562Cys Single submitter ⚠
p.Arg1562Pro Single submitter ⚠
p.Arg1838Gln Single submitter ⚠
p.Arg1923Gln Single submitter ⚠
p.Arg1957Gln Single submitter ⚠
p.Arg196Ser Single submitter ⚠
p.Arg2009Trp Single submitter ⚠
p.Arg2051Gln Single submitter ⚠
p.Arg206Gly Single submitter ⚠
p.Arg206Trp Single submitter ⚠
p.Arg246Leu Single submitter ⚠
p.Arg307Trp Single submitter ⚠
p.Arg342Trp Single submitter ⚠
p.Arg360Gly Single submitter ⚠
p.Arg371His Single submitter ⚠
p.Arg388Gly Single submitter ⚠
p.Arg392Cys Single submitter ⚠
p.Arg417His Single submitter ⚠
p.Arg41Cys Single submitter ⚠
p.Arg429Gln Single submitter ⚠
p.Arg531Cys Single submitter ⚠
p.Arg542Trp Single submitter ⚠
p.Arg557Cys Single submitter ⚠
p.Arg560His Single submitter ⚠
p.Arg596Cys Single submitter ⚠
p.Arg631Trp Single submitter ⚠
p.Arg707Cys Single submitter ⚠
p.Arg741Cys Single submitter ⚠
p.Arg7Leu Single submitter ⚠
p.Arg7Pro Single submitter ⚠
p.Arg833Cys Single submitter ⚠
p.Arg87Gln Single submitter ⚠
p.Arg919Cys Single submitter ⚠
p.Arg919His Single submitter ⚠
p.Arg920Gln Single submitter ⚠
p.Arg928Pro Single submitter ⚠
p.Arg928Trp Single submitter ⚠
p.Arg935Trp Single submitter ⚠
p.Arg951Gln Single submitter ⚠
p.Arg958Cys Single submitter ⚠
p.Arg958Pro Single submitter ⚠
p.Asn1101His Single submitter ⚠
p.Asn1101Lys Single submitter ⚠
p.Asn1252Ser Single submitter ⚠
p.Asn1369His Single submitter ⚠
p.Asn1790Ser Single submitter ⚠
p.Asn314Ser Single submitter ⚠
p.Asn464Lys Single submitter ⚠
p.Asn902Lys Single submitter ⚠
p.Asp1005Val Single submitter ⚠
p.Asp1115His Single submitter ⚠
p.Asp1447Ala Single submitter ⚠
p.Asp1447Asn Single submitter ⚠
p.Asp144Asn Single submitter ⚠
p.Asp1467Asn Single submitter ⚠
p.Asp1481Glu Single submitter ⚠
p.Asp1481Gly Single submitter ⚠
p.Asp1587Asn Single submitter ⚠
p.Asp1733Asn Single submitter ⚠
p.Asp1757Asn Single submitter ⚠
p.Asp1761Gly Single submitter ⚠
p.Asp1868Val Single submitter ⚠
p.Asp212Glu Single submitter ⚠
p.Asp279Asn Single submitter ⚠
p.Asp32Gly Single submitter ⚠
p.Asp466Gly Single submitter ⚠
p.Asp466Tyr Single submitter ⚠
p.Asp481Glu Single submitter ⚠
p.Asp756Asn Single submitter ⚠
p.Asp816Asn Single submitter ⚠
p.Asp90Gly Single submitter ⚠
p.Cys1563Tyr Single submitter ⚠
p.Cys1884Ser Single submitter ⚠
p.Cys44Ser Single submitter ⚠
p.Cys44Tyr Single submitter ⚠
p.Cys549Ser Single submitter ⚠
p.Gln1130Glu Single submitter ⚠
p.Gln1141Arg Single submitter ⚠
p.Gln1402Glu Single submitter ⚠
p.Gln1605His Single submitter ⚠
p.Gln1836Glu Single submitter ⚠
p.Gln1848Arg Single submitter ⚠
p.Gln222His Single submitter ⚠
p.Gln84His Single submitter ⚠
p.Gln932Pro Single submitter ⚠
p.Gln943Lys Single submitter ⚠
p.Glu1004Lys Single submitter ⚠
p.Glu1083Gly Single submitter ⚠
p.Glu1249Lys Single submitter ⚠
p.Glu1511Lys Single submitter ⚠
p.Glu1594Lys Single submitter ⚠
p.Glu159Ala Single submitter ⚠
p.Glu1618Ala Single submitter ⚠
p.Glu1631Asp Single submitter ⚠
p.Glu1667Gly Single submitter ⚠
p.Glu938Lys Single submitter ⚠
p.Gly1017Ser Single submitter ⚠
p.Gly135Arg Single submitter ⚠
p.Gly135Cys Single submitter ⚠
p.Gly1523Arg Single submitter ⚠
p.Gly1622Asp Single submitter ⚠
p.Gly1622Val Single submitter ⚠
p.Gly1624Arg Single submitter ⚠
p.Gly1719Ser Single submitter ⚠
p.Gly226Arg Single submitter ⚠
p.Gly290Ala Single submitter ⚠
p.Gly312Glu Single submitter ⚠
p.Gly367Arg Single submitter ⚠
p.Gly386Asp Single submitter ⚠
p.Gly409Ser Single submitter ⚠
p.Gly495Arg Single submitter ⚠
p.Gly512Ser Single submitter ⚠
p.Gly647Arg Single submitter ⚠
p.Gly649Arg Single submitter ⚠
p.Gly649Glu Single submitter ⚠
p.Gly663Ser Single submitter ⚠
p.Gly691Arg Single submitter ⚠
p.Gly728Ala Single submitter ⚠
p.Gly752Arg Single submitter ⚠
p.Gly778Asp Single submitter ⚠
p.Gly778Val Single submitter ⚠
p.Gly789Asp Single submitter ⚠
p.Gly820Asp Single submitter ⚠
p.Gly877Asp Single submitter ⚠
p.Gly921Val Single submitter ⚠
p.Gly939Arg Single submitter ⚠
p.Gly939Asp Single submitter ⚠
p.His1264Arg Single submitter ⚠
p.His1455Gln Single submitter ⚠
p.His1887Arg Single submitter ⚠
p.His2014Gln Single submitter ⚠
p.His995Leu Single submitter ⚠
p.His995Tyr Single submitter ⚠
p.Ile1275Val Single submitter ⚠
p.Ile1488Val Single submitter ⚠
p.Ile467Thr Single submitter ⚠
p.Ile602Phe Single submitter ⚠
p.Ile648Val Single submitter ⚠
p.Leu1460Val Single submitter ⚠
p.Leu1473Gln Single submitter ⚠
p.Leu1623Val Single submitter ⚠
p.Leu1693Pro Single submitter ⚠
p.Leu1730Pro Single submitter ⚠
p.Leu1793Phe Single submitter ⚠
p.Leu302Met Single submitter ⚠
p.Leu462Val Single submitter ⚠
p.Leu472Val Single submitter ⚠
p.Leu585Val Single submitter ⚠
p.Leu61Val Single submitter ⚠
p.Leu78Phe Single submitter ⚠
p.Leu857Gln Single submitter ⚠
p.Leu905Arg Single submitter ⚠
p.Lys1154Glu Single submitter ⚠
p.Lys1253Glu Single submitter ⚠
p.Lys1375Arg Single submitter ⚠
p.Lys1392Arg Single submitter ⚠
p.Lys17Thr Single submitter ⚠
p.Lys2002Met Single submitter ⚠
p.Lys552Arg Single submitter ⚠
p.Met1066Thr Single submitter ⚠
p.Met1093Val Single submitter ⚠
p.Met1708Val Single submitter ⚠
p.Met2024Val Single submitter ⚠
p.Phe1721Val Single submitter ⚠
p.Phe1891Ser Single submitter ⚠
p.Phe220Leu Single submitter ⚠
p.Phe547Leu Single submitter ⚠
p.Phe753Cys Single submitter ⚠
p.Pro1022Gln Single submitter ⚠
p.Pro1024Leu Single submitter ⚠
p.Pro1043Thr Single submitter ⚠
p.Pro1107Ser Single submitter ⚠
p.Pro1228Ser Single submitter ⚠
p.Pro1354Leu Single submitter ⚠
p.Pro141Ser Single submitter ⚠
p.Pro148Arg Single submitter ⚠
p.Pro1510Ala Single submitter ⚠
p.Pro1568Leu Single submitter ⚠
p.Pro1602Leu Single submitter ⚠
p.Pro160Thr Single submitter ⚠
p.Pro161Ala Single submitter ⚠
p.Pro1621Leu Single submitter ⚠
p.Pro1670Leu Single submitter ⚠
p.Pro173Ala Single submitter ⚠
p.Pro187Ser Single submitter ⚠
p.Pro1992Leu Single submitter ⚠
p.Pro223Leu Single submitter ⚠
p.Pro333Ala Single submitter ⚠
p.Pro336Ser Single submitter ⚠
p.Pro419Thr Single submitter ⚠
p.Pro559Ala Single submitter ⚠
p.Pro582Leu Single submitter ⚠
p.Pro617Ala Single submitter ⚠
p.Pro65Ser Single submitter ⚠
p.Pro670Ser Single submitter ⚠
p.Pro72Ser Single submitter ⚠
p.Pro74Leu Single submitter ⚠
p.Pro765Leu Single submitter ⚠
p.Pro80Leu Single submitter ⚠
p.Pro855Ala Single submitter ⚠
p.Pro858Ser Single submitter ⚠
p.Pro859Ala Single submitter ⚠
p.Pro896Leu Single submitter ⚠
p.Pro907Arg Single submitter ⚠
p.Pro907His Single submitter ⚠
p.Pro915Leu Single submitter ⚠
p.Pro92Leu Single submitter ⚠
p.Pro980Ser Single submitter ⚠
p.Pro991Leu Single submitter ⚠
p.Ser1151Leu Single submitter ⚠
p.Ser125Arg Single submitter ⚠
p.Ser1339Gly Single submitter ⚠
p.Ser1448Pro Single submitter ⚠
p.Ser1508Asn Single submitter ⚠
p.Ser1521Arg Single submitter ⚠
p.Ser152Asn Single submitter ⚠
p.Ser15Leu Single submitter ⚠
p.Ser1615Leu Single submitter ⚠
p.Ser1644Leu Single submitter ⚠
p.Ser1653Arg Single submitter ⚠
p.Ser1656Arg Single submitter ⚠
p.Ser1717Ile Single submitter ⚠
p.Ser1725Arg Single submitter ⚠
p.Ser1740Cys Single submitter ⚠
p.Ser2040Arg Single submitter ⚠
p.Ser221Phe Single submitter ⚠
p.Ser235Phe Single submitter ⚠
p.Ser239Phe Single submitter ⚠
p.Ser326Ile Single submitter ⚠
p.Ser348Phe Single submitter ⚠
p.Ser348Pro Single submitter ⚠
p.Ser376Asn Single submitter ⚠
p.Ser379Leu Single submitter ⚠
p.Ser407Arg Single submitter ⚠
p.Ser410Cys Single submitter ⚠
p.Ser410Phe Single submitter ⚠
p.Ser43Ala Single submitter ⚠
p.Ser456Arg Single submitter ⚠
p.Ser483Leu Single submitter ⚠
p.Ser509Cys Single submitter ⚠