ARHGAP21 — 309 ClinVar variants

All ClinVar germline ARHGAP21 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 277 flagged for review →

1 Likely pathogenic · 1 Conflicting · 9 Benign · 26 Likely benign · 272 Uncertain significance

Full ARHGAP21 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 277

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 198

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 198

Predictors split 79

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

All ARHGAP21 variants

Likely pathogenic 1

p.Ile1164Arg Single submitter Abnormal brain morphology

Conflicting classifications of pathogenicity 1

p.Ser684Cys Single submitter ⚠

Benign 9

p.Gly1121Ser Multiple submitters
p.Pro320= Multiple submitters
p.Ser1950Thr Multiple submitters
p.Thr765= Multiple submitters
p.Val1165= Multiple submitters
c.3787-8_3832dup Single submitter
p.Arg609Gln Single submitter ⚠
p.Asp1207= Single submitter
p.Thr318= Single submitter

Likely benign 26

p.Cys1016Ser Multiple submitters
p.Gly766Arg Multiple submitters
p.Val1929Met Multiple submitters ⚠
p.Arg1768= Single submitter
p.Arg1799= Single submitter
p.Arg492Gly Single submitter ⚠
p.Asn128Ser Single submitter ⚠
p.Asn510Ser Single submitter
p.Asn624= Single submitter
p.Asp648= Single submitter
p.Gln719Arg Single submitter
p.Glu1953fs Single submitter
p.Gly1146= Single submitter
p.Gly1752Ser Single submitter
p.Ile1883Thr Single submitter
p.Leu1703Phe Single submitter ⚠
p.Leu339= Single submitter
p.Leu895= Single submitter
p.Lys1513Arg Single submitter
p.Lys1738= Single submitter
p.Met1563Thr Single submitter
p.Ser1378= Single submitter
p.Ser1945= Single submitter
p.Ser563= Single submitter
p.Thr770= Single submitter
p.Val781= Single submitter

Uncertain significance 272

p.Ala116Gly Single submitter ⚠
p.Ala116Pro Single submitter ⚠
p.Ala116Thr Single submitter ⚠
p.Ala1279Asp Single submitter ⚠
p.Ala1593Pro Single submitter ⚠
p.Ala1612Val Single submitter ⚠
p.Ala1777Thr Single submitter ⚠
p.Ala417Thr Single submitter ⚠
p.Ala693Ser Single submitter ⚠
p.Ala830Val Single submitter ⚠
p.Ala839Thr Single submitter ⚠
p.Arg1005Trp Single submitter ⚠
p.Arg1076Cys Single submitter ⚠
p.Arg1106Gly Single submitter ⚠
p.Arg1148Gln Single submitter ⚠
p.Arg1248His Single submitter ⚠
p.Arg1419Cys Single submitter ⚠
p.Arg1419His Single submitter ⚠
p.Arg1631Trp Single submitter ⚠
p.Arg1666Gln Single submitter ⚠
p.Arg1688Gln Single submitter ⚠
p.Arg1688Trp Single submitter ⚠
p.Arg1689Thr Single submitter ⚠
p.Arg1768Gln Single submitter ⚠
p.Arg1837Gln Single submitter ⚠
p.Arg1857Cys Single submitter ⚠
p.Arg1859Cys Single submitter ⚠
p.Arg1859His Single submitter ⚠
p.Arg1867Lys Single submitter ⚠
p.Arg1881Gly Single submitter ⚠
p.Arg194Cys Single submitter ⚠
p.Arg194His Single submitter ⚠
p.Arg245Gly Single submitter ⚠
p.Arg302Met Single submitter ⚠
p.Arg406Trp Single submitter ⚠
p.Arg432Cys Single submitter ⚠
p.Arg432His Single submitter ⚠
p.Arg439Cys Single submitter ⚠
p.Arg456Cys Single submitter ⚠
p.Arg494His Single submitter ⚠
p.Arg494Pro Single submitter ⚠
p.Arg537Gly Single submitter ⚠
p.Arg538Gln Single submitter ⚠
p.Arg554Gln Single submitter ⚠
p.Arg571Gln Single submitter ⚠
p.Arg571Gly Single submitter ⚠
p.Arg597fs Single submitter
p.Arg609Trp Single submitter ⚠
p.Arg668Lys Single submitter ⚠
p.Arg778Cys Single submitter ⚠
p.Arg779Gly Single submitter ⚠
p.Arg853His Single submitter ⚠
p.Arg941Gln Single submitter ⚠
p.Arg941Leu Single submitter ⚠
p.Arg956Gln Single submitter ⚠
p.Arg95His Single submitter ⚠
p.Asn1063Thr Single submitter ⚠
p.Asn1247Ser Single submitter ⚠
p.Asn1313Ser Single submitter ⚠
p.Asn1439Asp Single submitter ⚠
p.Asn1932Asp Single submitter ⚠
p.Asn268Ser Single submitter ⚠
p.Asn287Ser Single submitter ⚠
p.Asn519Ser Single submitter ⚠
p.Asn557Ser Single submitter ⚠
p.Asn658Lys Single submitter ⚠
p.Asn731Ser Single submitter ⚠
p.Asn775Ser Single submitter ⚠
p.Asp1026Asn Single submitter ⚠
p.Asp1027Gly Single submitter ⚠
p.Asp1113Gly Single submitter ⚠
p.Asp1366Asn Single submitter ⚠
p.Asp13Gly Single submitter ⚠
p.Asp15Gly Single submitter ⚠
p.Asp1636Glu Single submitter ⚠
p.Asp397Gly Single submitter ⚠
p.Asp497Glu Single submitter ⚠
p.Asp674Gly Single submitter ⚠
p.Cys472Arg Single submitter ⚠
p.Cys541Phe Single submitter ⚠
p.Gln1021Glu Single submitter ⚠
p.Gln139Pro Single submitter ⚠
p.Gln1824Glu Single submitter ⚠
p.Gln1920Lys Single submitter ⚠
p.Gln1927Pro Single submitter ⚠
p.Gln216Arg Single submitter ⚠
p.Gln409Arg Single submitter ⚠
p.Gln449Arg Single submitter ⚠
p.Gln449Glu Single submitter ⚠
p.Gln478Lys Single submitter ⚠
p.Gln871His Single submitter ⚠
p.Glu109Gly Single submitter ⚠
p.Glu11Gly Single submitter ⚠
p.Glu1341Gln Single submitter ⚠
p.Glu1426Lys Single submitter ⚠
p.Glu1476Gly Single submitter ⚠
p.Glu1575Lys Single submitter ⚠
p.Glu1607Asp Single submitter ⚠
p.Glu1622Gln Single submitter ⚠
p.Glu1625Asp Single submitter ⚠
p.Glu1640Lys Single submitter ⚠
p.Glu1812Lys Single submitter ⚠
p.Glu1827Lys Single submitter ⚠
p.Glu1856Gly Single submitter ⚠
p.Glu464Gln Single submitter ⚠
p.Glu507Lys Single submitter ⚠
p.Glu739Gly Single submitter ⚠
p.Glu884Gly Single submitter ⚠
p.Gly1047Arg Single submitter ⚠
p.Gly110Val Single submitter ⚠
p.Gly1373Glu Single submitter ⚠
p.Gly1826Arg Single submitter ⚠
p.Gly241Ala Single submitter ⚠
p.Gly293Asp Single submitter ⚠
p.Gly343Glu Single submitter ⚠
p.Gly512Val Single submitter ⚠
p.Gly539Asp Single submitter ⚠
p.Gly610Arg Single submitter ⚠
p.Gly864Ser Single submitter ⚠
p.Gly885Ser Single submitter ⚠
p.Gly885Val Single submitter ⚠
p.Gly919Val Single submitter ⚠
p.Gly967Ser Single submitter ⚠
p.His1695Tyr Single submitter ⚠
p.His381Tyr Single submitter ⚠
p.His444Asp Single submitter ⚠
p.His444Tyr Single submitter ⚠
p.His632Tyr Single submitter ⚠
p.His656Arg Single submitter ⚠
p.His858Gln Single submitter ⚠
p.Ile1161Val Single submitter ⚠
p.Ile1208Thr Single submitter ⚠
p.Ile1219Val Single submitter ⚠
p.Ile1372Val Single submitter ⚠
p.Ile1473Val Single submitter ⚠
p.Ile162Val Single submitter ⚠
p.Ile1698Met Single submitter ⚠
p.Ile384Val Single submitter ⚠
p.Ile499Val Single submitter ⚠
p.Ile586Thr Single submitter ⚠
p.Ile955Ser Single submitter ⚠
p.Ile989Val Single submitter ⚠
p.Leu1085Phe Single submitter ⚠
p.Leu1408Pro Single submitter ⚠
p.Leu1409Pro Single submitter ⚠
p.Leu1517Pro Single submitter ⚠
p.Leu1718Val Single submitter ⚠
p.Leu329Val Single submitter ⚠
p.Leu346Phe Single submitter ⚠
p.Leu626Pro Single submitter ⚠
p.Leu716Ile Single submitter ⚠
p.Leu737Arg Single submitter ⚠
p.Leu903Gln Single submitter ⚠
p.Lys1118Glu Single submitter ⚠
p.Lys1487Glu Single submitter ⚠
p.Lys1495Glu Single submitter ⚠
p.Lys158Glu Single submitter ⚠
p.Lys1722Asn Single submitter ⚠
p.Lys1787Arg Single submitter ⚠
p.Lys1820Glu Single submitter ⚠
p.Lys259Asn Single submitter ⚠
p.Lys54Asn Single submitter ⚠
p.Lys551Arg Single submitter ⚠
p.Lys949Glu Single submitter ⚠
p.Lys976Thr Single submitter ⚠
p.Met214Thr Single submitter ⚠
p.Met572Ile Single submitter ⚠
p.Phe1441Ile Single submitter ⚠
p.Phe1654Leu Single submitter ⚠
p.Pro1100Leu Single submitter ⚠
p.Pro1515Leu Single submitter ⚠
p.Pro157Thr Single submitter ⚠
p.Pro1645Ser Single submitter ⚠
p.Pro1873Arg Single submitter ⚠
p.Pro1915Leu Single submitter ⚠
p.Pro1941Arg Single submitter ⚠
p.Pro1941Thr Single submitter ⚠
p.Pro294Leu Single submitter ⚠
p.Pro333Ala Single submitter ⚠
p.Pro341Ala Single submitter ⚠
p.Pro341Thr Single submitter ⚠
p.Pro46Ala Single submitter ⚠
p.Pro673Ser Single submitter ⚠
p.Pro694Ser Single submitter ⚠
p.Pro72Leu Single submitter ⚠
p.Pro741Ala Single submitter ⚠
p.Pro742Leu Single submitter ⚠
p.Pro748Leu Single submitter ⚠
p.Pro796Leu Single submitter ⚠
p.Pro842Thr Single submitter ⚠
p.Pro865Ser Single submitter ⚠
p.Pro872Leu Single submitter ⚠
p.Pro982Leu Single submitter ⚠
p.Ser1039Asn Single submitter ⚠
p.Ser1080Asn Single submitter ⚠
p.Ser1110Ile Single submitter ⚠
p.Ser1129Asn Single submitter ⚠
p.Ser1355Arg Single submitter ⚠
p.Ser1462Asn Single submitter ⚠
p.Ser1537Tyr Single submitter ⚠
p.Ser1544Cys Single submitter ⚠
p.Ser1598Ile Single submitter ⚠
p.Ser1614Gly Single submitter ⚠
p.Ser1665Gly Single submitter ⚠
p.Ser1672Asn Single submitter ⚠
p.Ser1729Leu Single submitter ⚠
p.Ser1814Asn Single submitter ⚠
p.Ser233Gly Single submitter ⚠
p.Ser260Thr Single submitter ⚠
p.Ser286Ala Single submitter ⚠
p.Ser338Pro Single submitter ⚠
p.Ser352Ile Single submitter ⚠
p.Ser359Pro Single submitter ⚠
p.Ser377Leu Single submitter ⚠
p.Ser450Cys Single submitter ⚠
p.Ser477Phe Single submitter ⚠
p.Ser487Asn Single submitter ⚠
p.Ser556Phe Single submitter ⚠
p.Ser573Arg Single submitter ⚠
p.Ser573Asn Single submitter ⚠
p.Ser581Leu Single submitter ⚠
p.Ser625Tyr Single submitter ⚠
p.Ser637Pro Single submitter ⚠
p.Ser696Leu Single submitter ⚠
p.Ser800Cys Single submitter ⚠
p.Ser812Asn Single submitter ⚠
p.Ser914Leu Single submitter ⚠
p.Ser918Pro Single submitter ⚠
p.Ser926Thr Single submitter ⚠
p.Ser990Arg Single submitter ⚠
p.Thr1034Met Single submitter ⚠
p.Thr1114Asn Single submitter ⚠
p.Thr1134Ser Single submitter ⚠
p.Thr1144Ile Single submitter ⚠
p.Thr1370Ser Single submitter ⚠
p.Thr1479Asn Single submitter ⚠
p.Thr1552Met Single submitter ⚠
p.Thr1677Pro Single submitter ⚠
p.Thr173Ile Single submitter ⚠
p.Thr1763Met Single submitter ⚠
p.Thr1875Arg Single submitter ⚠
p.Thr1896Arg Single submitter ⚠
p.Thr1947Asn Single submitter ⚠
p.Thr433Ala Single submitter ⚠
p.Thr482Met Single submitter ⚠
p.Thr482Pro Single submitter ⚠
p.Thr52Arg Single submitter ⚠
p.Thr631Met Single submitter ⚠
p.Thr770Ile Single submitter ⚠
p.Thr794Ala Single submitter ⚠
p.Thr811Ala Single submitter ⚠
p.Thr847Ala Single submitter ⚠
p.Trp528Arg Single submitter ⚠
p.Tyr244Cys Single submitter ⚠
p.Tyr303Cys Single submitter ⚠
p.Tyr303His Single submitter ⚠
p.Tyr756Ser Single submitter ⚠
p.Tyr80His Single submitter ⚠
p.Tyr971Cys Single submitter ⚠
p.Val107Ala Single submitter ⚠
p.Val1382Ile Single submitter ⚠
p.Val1611Met Single submitter ⚠
p.Val1733Ala Single submitter ⚠
p.Val1788Leu Single submitter ⚠
p.Val1788Met Single submitter ⚠
p.Val1835Leu Single submitter ⚠
p.Val276Met Single submitter ⚠
p.Val35Leu Single submitter ⚠
p.Val564Ile Single submitter ⚠
p.Val900Ile Single submitter ⚠
p.Val900Leu Single submitter ⚠
p.Val963Ile Single submitter ⚠