ARFGEF3 — 326 ClinVar variants
All ClinVar germline ARFGEF3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 260 flagged for review →
1 Conflicting · 29 Benign · 1 Benign/Likely benign · 33 Likely benign · 262 Uncertain significance
Full ARFGEF3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 260
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 176
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 176
- ARFGEF3 p.Ala1076Thr Uncertain significance Single submitter
- ARFGEF3 p.Ala1110Val Uncertain significance Single submitter
- ARFGEF3 p.Ala1179Thr Uncertain significance Single submitter
- ARFGEF3 p.Ala1803Thr Uncertain significance Single submitter
- ARFGEF3 p.Ala1804Gly Uncertain significance Single submitter
- ARFGEF3 p.Ala1882Val Uncertain significance Single submitter
- ARFGEF3 p.Ala294Thr Uncertain significance Single submitter
- ARFGEF3 p.Ala326Thr Uncertain significance Single submitter
- ARFGEF3 p.Ala638Val Uncertain significance Single submitter
- ARFGEF3 p.Ala65Gly Uncertain significance Single submitter
- ARFGEF3 p.Ala668Val Uncertain significance Single submitter
- ARFGEF3 p.Ala699Thr Uncertain significance Single submitter
- ARFGEF3 p.Ala704Ser Uncertain significance Single submitter
- ARFGEF3 p.Ala885Val Uncertain significance Single submitter
- ARFGEF3 p.Ala927Thr Uncertain significance Single submitter
- ARFGEF3 p.Arg1095Pro Uncertain significance Single submitter
- ARFGEF3 p.Arg1205His Uncertain significance Single submitter
- ARFGEF3 p.Arg1258Gln Uncertain significance Single submitter
- ARFGEF3 p.Arg1424Gln Uncertain significance Single submitter
- ARFGEF3 p.Arg1470Gln Uncertain significance Single submitter
- ARFGEF3 p.Arg1513His Uncertain significance Single submitter
- ARFGEF3 p.Arg1881Gln Uncertain significance Single submitter
- ARFGEF3 p.Arg1883Gln Uncertain significance Single submitter
- ARFGEF3 p.Arg320Gln Uncertain significance Single submitter
- ARFGEF3 p.Arg375His Uncertain significance Single submitter
- ARFGEF3 p.Arg390Ser Uncertain significance Single submitter
- ARFGEF3 p.Arg457Cys Uncertain significance Single submitter
- ARFGEF3 p.Arg457His Uncertain significance Single submitter
- ARFGEF3 p.Arg469Gln Uncertain significance Single submitter
- ARFGEF3 p.Arg480His Uncertain significance Single submitter
- ARFGEF3 p.Arg483Gln Uncertain significance Single submitter
- ARFGEF3 p.Arg654Gln Uncertain significance Single submitter
- ARFGEF3 p.Arg757Gln Uncertain significance Single submitter
- ARFGEF3 p.Arg923Gln Uncertain significance Single submitter
- ARFGEF3 p.Asn1245Ser Uncertain significance Single submitter
- ARFGEF3 p.Asn1340Ser Uncertain significance Single submitter
- ARFGEF3 p.Asn2011Ile Uncertain significance Single submitter
- ARFGEF3 p.Asn2118Ser Uncertain significance Single submitter
- ARFGEF3 p.Asn2125Ser Uncertain significance Single submitter
- ARFGEF3 p.Asp1098Asn Uncertain significance Single submitter
- ARFGEF3 p.Asp1435Gly Uncertain significance Single submitter
- ARFGEF3 p.Asp1965Gly Uncertain significance Single submitter
- ARFGEF3 p.Asp1998Glu Uncertain significance Single submitter
- ARFGEF3 p.Asp2072Glu Uncertain significance Single submitter
- ARFGEF3 p.Asp2090Asn Uncertain significance Single submitter
- ARFGEF3 p.Asp254Glu Uncertain significance Single submitter
- ARFGEF3 p.Asp639Asn Uncertain significance Single submitter
- ARFGEF3 p.Asp852His Uncertain significance Single submitter
- ARFGEF3 p.Asp916Asn Uncertain significance Single submitter
- ARFGEF3 p.Cys203Arg Uncertain significance Single submitter
- ARFGEF3 p.Cys431Ser Uncertain significance Single submitter
- ARFGEF3 p.Cys582Ser Uncertain significance Single submitter
- ARFGEF3 p.Cys582Tyr Uncertain significance Single submitter
- ARFGEF3 p.Gln1085Glu Uncertain significance Single submitter
- ARFGEF3 p.Gln1829Arg Uncertain significance Single submitter
- ARFGEF3 p.Gln2073His Uncertain significance Single submitter
- ARFGEF3 p.Gln54Arg Uncertain significance Single submitter
- ARFGEF3 p.Gln771Arg Uncertain significance Single submitter
- ARFGEF3 p.Gln905Leu Uncertain significance Single submitter
- ARFGEF3 p.Glu1239Lys Uncertain significance Single submitter
- ARFGEF3 p.Glu1283Gln Uncertain significance Single submitter
- ARFGEF3 p.Glu1304Ala Uncertain significance Single submitter
- ARFGEF3 p.Glu1452Lys Uncertain significance Single submitter
- ARFGEF3 p.Glu1846Lys Uncertain significance Single submitter
- ARFGEF3 p.Glu215Lys Uncertain significance Single submitter
- ARFGEF3 p.Glu2164Gly Uncertain significance Single submitter
- ARFGEF3 p.Glu290Gln Uncertain significance Single submitter
- ARFGEF3 p.Glu328Lys Uncertain significance Single submitter
- ARFGEF3 p.Glu494Gln Uncertain significance Single submitter
- ARFGEF3 p.Glu526Lys Uncertain significance Single submitter
- ARFGEF3 p.Glu555Gly Uncertain significance Single submitter
- ARFGEF3 p.Glu694Gly Uncertain significance Single submitter
- ARFGEF3 p.Glu826Gly Uncertain significance Single submitter
- ARFGEF3 p.Gly1022Ser Uncertain significance Single submitter
- ARFGEF3 p.Gly1032Ala Uncertain significance Single submitter
- ARFGEF3 p.Gly1051Val Uncertain significance Single submitter
- ARFGEF3 p.Gly1107Arg Uncertain significance Single submitter
- ARFGEF3 p.Gly1107Glu Uncertain significance Single submitter
- ARFGEF3 p.Gly1107Trp Uncertain significance Single submitter
- ARFGEF3 p.Gly1308Asp Uncertain significance Single submitter
- ARFGEF3 p.Gly1309Arg Uncertain significance Single submitter
- ARFGEF3 p.Gly1327Ser Uncertain significance Single submitter
- ARFGEF3 p.Gly1739Asp Uncertain significance Single submitter
- ARFGEF3 p.Gly1739Val Uncertain significance Single submitter
- ARFGEF3 p.Gly1743Val Uncertain significance Single submitter
- ARFGEF3 p.Gly1757Val Uncertain significance Single submitter
- ARFGEF3 p.Gly1982Ser Uncertain significance Single submitter
- ARFGEF3 p.Gly297Arg Uncertain significance Single submitter
- ARFGEF3 p.Gly334Arg Uncertain significance Single submitter
- ARFGEF3 p.Gly334Val Uncertain significance Single submitter
- ARFGEF3 p.Gly776Ser Uncertain significance Single submitter
- ARFGEF3 p.Gly800Ala Uncertain significance Single submitter
- ARFGEF3 p.His1519Tyr Uncertain significance Single submitter
- ARFGEF3 p.His1685Tyr Uncertain significance Single submitter
- ARFGEF3 p.His247Gln Uncertain significance Single submitter
- ARFGEF3 p.His400Arg Uncertain significance Single submitter
- ARFGEF3 p.His671Tyr Uncertain significance Single submitter
- ARFGEF3 p.Ile1281Leu Uncertain significance Single submitter
- ARFGEF3 p.Ile1413Met Uncertain significance Single submitter
- ARFGEF3 p.Ile1437Phe Uncertain significance Single submitter
- ARFGEF3 p.Ile143Thr Uncertain significance Single submitter
- ARFGEF3 p.Ile1451Thr Uncertain significance Single submitter
- ARFGEF3 p.Ile1497Val Uncertain significance Single submitter
- ARFGEF3 p.Ile1533Val Uncertain significance Single submitter
- ARFGEF3 p.Ile1588Val Uncertain significance Single submitter
- ARFGEF3 p.Ile1800Leu Uncertain significance Single submitter
- ARFGEF3 p.Ile182Lys Uncertain significance Single submitter
- ARFGEF3 p.Ile394Val Uncertain significance Single submitter
- ARFGEF3 p.Ile474Asn Uncertain significance Single submitter
- ARFGEF3 p.Ile505Val Uncertain significance Single submitter
- ARFGEF3 p.Ile630Val Uncertain significance Single submitter
- ARFGEF3 p.Ile677Met Uncertain significance Single submitter
- ARFGEF3 p.Ile900Met Uncertain significance Single submitter
- ARFGEF3 p.Leu1052Pro Uncertain significance Single submitter
- ARFGEF3 p.Leu1426Arg Uncertain significance Single submitter
- ARFGEF3 p.Leu1426Val Uncertain significance Single submitter
- ARFGEF3 p.Leu1821Gln Uncertain significance Single submitter
- ARFGEF3 p.Leu1911Val Uncertain significance Single submitter
- ARFGEF3 p.Leu1987Gln Uncertain significance Single submitter
- ARFGEF3 p.Leu453Gln Uncertain significance Single submitter
- ARFGEF3 p.Lys1045Asn Uncertain significance Single submitter
- ARFGEF3 p.Lys1311Asn Uncertain significance Single submitter
- ARFGEF3 p.Lys1563Glu Uncertain significance Single submitter
- ARFGEF3 p.Lys2003Glu Uncertain significance Single submitter
- ARFGEF3 p.Lys391Arg Uncertain significance Single submitter
- ARFGEF3 p.Lys417Arg Uncertain significance Single submitter
- ARFGEF3 p.Lys417Gln Uncertain significance Single submitter
- ARFGEF3 p.Met1973Ile Uncertain significance Single submitter
- ARFGEF3 p.Met2119Val Uncertain significance Single submitter
- ARFGEF3 p.Met366Val Uncertain significance Single submitter
- ARFGEF3 p.Met616Val Uncertain significance Single submitter
- ARFGEF3 p.Phe1335Ser Uncertain significance Single submitter
- ARFGEF3 p.Phe1481Leu Uncertain significance Single submitter
- ARFGEF3 p.Phe1842Ser Uncertain significance Single submitter
- ARFGEF3 p.Pro1081Ser Uncertain significance Single submitter
- ARFGEF3 p.Pro1696Leu Uncertain significance Single submitter
- ARFGEF3 p.Pro1696Ser Uncertain significance Single submitter
- ARFGEF3 p.Pro1872Ala Uncertain significance Single submitter
- ARFGEF3 p.Pro1885Ser Uncertain significance Single submitter
- ARFGEF3 p.Pro1930Thr Uncertain significance Single submitter
- ARFGEF3 p.Pro1950Ser Uncertain significance Single submitter
- ARFGEF3 p.Pro2056Arg Uncertain significance Single submitter
- ARFGEF3 p.Pro296Leu Uncertain significance Single submitter
- ARFGEF3 p.Pro644Ser Uncertain significance Single submitter
- ARFGEF3 p.Ser1741Ala Uncertain significance Single submitter
- ARFGEF3 p.Ser529Leu Uncertain significance Single submitter
- ARFGEF3 p.Ser827Asn Uncertain significance Single submitter
- ARFGEF3 p.Thr1129Ser Uncertain significance Single submitter
- ARFGEF3 p.Thr2136Arg Uncertain significance Single submitter
- ARFGEF3 p.Thr2150Ser Uncertain significance Single submitter
Predictors split 83
The independent predictors disagree with each other — read with care.
- ARFGEF3 p.Ala1804Ser Uncertain significance Single submitter
- ARFGEF3 p.Ala1804Thr Uncertain significance Single submitter
- ARFGEF3 p.Ala362Thr Uncertain significance Single submitter
- ARFGEF3 p.Ala704Val Benign Single submitter
- ARFGEF3 p.Arg1071Cys Uncertain significance Single submitter
- ARFGEF3 p.Arg1089Trp Uncertain significance Single submitter
- ARFGEF3 p.Arg1100Cys Uncertain significance Single submitter
- ARFGEF3 p.Arg1184Cys Uncertain significance Single submitter
- ARFGEF3 p.Arg1262Cys Uncertain significance Single submitter
- ARFGEF3 p.Arg1397Cys Uncertain significance Single submitter
- ARFGEF3 p.Arg1513Cys Uncertain significance Single submitter
- ARFGEF3 p.Arg1514Trp Uncertain significance Single submitter
- ARFGEF3 p.Arg1712Gly Uncertain significance Single submitter
- ARFGEF3 p.Arg1881Trp Uncertain significance Single submitter
- ARFGEF3 p.Arg1883Trp Uncertain significance Single submitter
- ARFGEF3 p.Arg2032Gly Uncertain significance Single submitter
- ARFGEF3 p.Arg2094Cys Uncertain significance Single submitter
- ARFGEF3 p.Arg250Trp Uncertain significance Single submitter
- ARFGEF3 p.Arg251His Uncertain significance Single submitter
- ARFGEF3 p.Arg359Gln Uncertain significance Single submitter
- ARFGEF3 p.Arg375Ser Uncertain significance Single submitter
- ARFGEF3 p.Arg457Ser Uncertain significance Single submitter
- ARFGEF3 p.Arg645Trp Uncertain significance Single submitter
- ARFGEF3 p.Arg686Trp Uncertain significance Single submitter
- ARFGEF3 p.Arg862Cys Uncertain significance Single submitter
- ARFGEF3 p.Arg923Trp Uncertain significance Single submitter
- ARFGEF3 p.Asn108Lys Uncertain significance Single submitter
- ARFGEF3 p.Asp1386His Uncertain significance Single submitter
- ARFGEF3 p.Asp2132Glu Uncertain significance Single submitter
- ARFGEF3 p.Asp300Ala Uncertain significance Single submitter
- ARFGEF3 p.Gln1667Arg Uncertain significance Single submitter
- ARFGEF3 p.Gln1674His Uncertain significance Single submitter
- ARFGEF3 p.Glu1835Lys Uncertain significance Single submitter
- ARFGEF3 p.Glu413Lys Uncertain significance Single submitter
- ARFGEF3 p.Glu517Lys Uncertain significance Single submitter
- ARFGEF3 p.Gly1789Glu Uncertain significance Single submitter
- ARFGEF3 p.Gly1954Cys Uncertain significance Single submitter
- ARFGEF3 p.Gly682Val Uncertain significance Single submitter
- ARFGEF3 p.His1220Tyr Uncertain significance Single submitter
- ARFGEF3 p.Ile2175Phe Uncertain significance Single submitter
- ARFGEF3 p.Ile369Thr Uncertain significance Single submitter
- ARFGEF3 p.Ile816Phe Uncertain significance Single submitter
- ARFGEF3 p.Ile97Met Uncertain significance Single submitter
- ARFGEF3 p.Leu1082Met Uncertain significance Single submitter
- ARFGEF3 p.Leu1392Val Uncertain significance Single submitter
- ARFGEF3 p.Leu229Phe Uncertain significance Single submitter
- ARFGEF3 p.Leu64Val Uncertain significance Single submitter
- ARFGEF3 p.Leu834Gln Uncertain significance Single submitter
- ARFGEF3 p.Met246Thr Uncertain significance Single submitter
- ARFGEF3 p.Phe1183Leu Uncertain significance Single submitter
- ARFGEF3 p.Phe1232Cys Uncertain significance Single submitter
- ARFGEF3 p.Phe860Ile Uncertain significance Single submitter
- ARFGEF3 p.Pro1597Ser Uncertain significance Single submitter
- ARFGEF3 p.Pro355Gln Uncertain significance Single submitter
- ARFGEF3 p.Pro356Ser Uncertain significance Single submitter
- ARFGEF3 p.Pro42Thr Uncertain significance Single submitter
- ARFGEF3 p.Ser1163Cys Uncertain significance Single submitter
- ARFGEF3 p.Ser1208Arg Uncertain significance Single submitter
- ARFGEF3 p.Ser1509Cys Uncertain significance Single submitter
- ARFGEF3 p.Ser1945Cys Uncertain significance Single submitter
- ARFGEF3 p.Ser1945Phe Uncertain significance Single submitter
- ARFGEF3 p.Ser286Asn Uncertain significance Single submitter
- ARFGEF3 p.Ser372Ile Uncertain significance Single submitter
- ARFGEF3 p.Ser610Pro Uncertain significance Single submitter
- ARFGEF3 p.Ser714Pro Uncertain significance Single submitter
- ARFGEF3 p.Ser782Cys Uncertain significance Single submitter
- ARFGEF3 p.Thr1488Met Uncertain significance Single submitter
- ARFGEF3 p.Thr412Ile Uncertain significance Single submitter
- ARFGEF3 p.Thr568Met Uncertain significance Single submitter
- ARFGEF3 p.Thr964Ile Uncertain significance Single submitter
- ARFGEF3 p.Tyr1521Cys Uncertain significance Single submitter
- ARFGEF3 p.Tyr1807Cys Uncertain significance Single submitter
- ARFGEF3 p.Tyr1807His Uncertain significance Single submitter
- ARFGEF3 p.Val1021Leu Uncertain significance Single submitter
- ARFGEF3 p.Val1277Ile Uncertain significance Single submitter
- ARFGEF3 p.Val135Met Uncertain significance Single submitter
- ARFGEF3 p.Val1840Leu Uncertain significance Single submitter
- ARFGEF3 p.Val1901Ala Uncertain significance Single submitter
- ARFGEF3 p.Val207Phe Uncertain significance Single submitter
- ARFGEF3 p.Val342Met Uncertain significance Single submitter
- ARFGEF3 p.Val360Met Uncertain significance Single submitter
- ARFGEF3 p.Val696Leu Uncertain significance Single submitter
-
ARFGEF3 p.Ala219Val
Benign
No assertion criteria
ARFGEF3-related disorder
All ARFGEF3 variants
Conflicting classifications of pathogenicity 1
- p.Ala465Gly Single submitter ⚠
Benign 29
- c.4346-5T>C Single submitter
- p.Ala1571Thr Single submitter
- p.Ala1614= Single submitter
- p.Ala704Val Single submitter ⚠
- p.Gly449= Single submitter
- p.Ile416= Single submitter
- p.Leu107= Single submitter
- p.Leu1318= Single submitter
- p.Lys2031Arg Single submitter
- p.Pro1872= Single submitter
- p.Ser1509= Single submitter
- p.Thr412= Single submitter
- c.137+4G>A No assertion criteria ARFGEF3-related disorder
- c.3648+7A>C No assertion criteria ARFGEF3-related disorder
- c.4652-5C>T No assertion criteria ARFGEF3-related disorder
- c.4766+10T>C No assertion criteria ARFGEF3-related disorder
- c.5001+10G>T No assertion criteria ARFGEF3-related disorder
- p.Ala1595= No assertion criteria ARFGEF3-related disorder
- p.Ala1646= No assertion criteria ARFGEF3-related disorder
- p.Ala219Val No assertion criteria ARFGEF3-related disorder ⚠
- p.Arg1760Thr No assertion criteria ARFGEF3-related disorder
- p.Glu1910= No assertion criteria ARFGEF3-related disorder
- p.Gly929= No assertion criteria ARFGEF3-related disorder
- p.Leu1986= No assertion criteria ARFGEF3-related disorder
- p.Leu548= No assertion criteria ARFGEF3-related disorder
- p.Ser689Ala No assertion criteria ARFGEF3-related disorder
- p.Thr1129= No assertion criteria ARFGEF3-related disorder
- p.Thr491Met No assertion criteria ARFGEF3-related disorder
- p.Tyr1554= No assertion criteria ARFGEF3-related disorder
Benign/Likely benign 1
- p.Arg1808= Multiple submitters
Likely benign 33
- p.Ala2040Thr Single submitter
- p.Ala845Thr Single submitter
- p.Arg46= Single submitter
- p.Asn108= Single submitter
- p.Asp1985Glu Single submitter
- p.Gly1381Arg Single submitter
- p.Gly1982Ala Single submitter
- p.His1531= Single submitter
- p.Ile1748Val Single submitter
- p.Pro1929Ala Single submitter
- p.Pro1989= Single submitter
- p.Pro570Ala Single submitter
- p.Ser535Gly Single submitter
- p.Ser691Pro Single submitter
- p.Thr698= Single submitter
- c.2785+5C>A No assertion criteria ARFGEF3-related disorder
- c.2786-6C>G No assertion criteria ARFGEF3-related disorder
- c.4097-8G>A No assertion criteria ARFGEF3-related disorder
- p.Ala1656= No assertion criteria ARFGEF3-related disorder
- p.Ala219= No assertion criteria ARFGEF3-related disorder
- p.Arg1425= No assertion criteria ARFGEF3-related disorder
- p.Arg1513= No assertion criteria ARFGEF3-related disorder
- p.Arg2001= No assertion criteria ARFGEF3-related disorder
- p.Asp89Tyr No assertion criteria ARFGEF3-related disorder
- p.Glu1876del No assertion criteria ARFGEF3-related disorder
- p.Gly1107= No assertion criteria ARFGEF3-related disorder
- p.Gly316= No assertion criteria ARFGEF3-related disorder
- p.His1013= No assertion criteria ARFGEF3-related disorder
- p.Met1314Ile No assertion criteria ARFGEF3-related disorder
- p.Ser1106= No assertion criteria ARFGEF3-related disorder
- p.Ser632= No assertion criteria ARFGEF3-related disorder
- p.Tyr1020= No assertion criteria ARFGEF3-related disorder
- p.Tyr1590= No assertion criteria ARFGEF3-related disorder
Uncertain significance 262
- c.3503-8T>C Single submitter
- p.Ala1076Thr Single submitter ⚠
- p.Ala1110Val Single submitter ⚠
- p.Ala1179Thr Single submitter ⚠
- p.Ala1803Thr Single submitter ⚠
- p.Ala1804Gly Single submitter ⚠
- p.Ala1804Ser Single submitter ⚠
- p.Ala1804Thr Single submitter ⚠
- p.Ala1882Val Single submitter ⚠
- p.Ala294Thr Single submitter ⚠
- p.Ala326Thr Single submitter ⚠
- p.Ala362Thr Single submitter ⚠
- p.Ala638Val Single submitter ⚠
- p.Ala65Gly Single submitter ⚠
- p.Ala668Val Single submitter ⚠
- p.Ala699Thr Single submitter ⚠
- p.Ala704Ser Single submitter ⚠
- p.Ala885Val Single submitter ⚠
- p.Ala927Thr Single submitter ⚠
- p.Arg1071Cys Single submitter ⚠
- p.Arg1089Trp Single submitter ⚠
- p.Arg1095Pro Single submitter ⚠
- p.Arg1100Cys Single submitter ⚠
- p.Arg1184Cys Single submitter ⚠
- p.Arg1205His Single submitter ⚠
- p.Arg1258Gln Single submitter ⚠
- p.Arg1262Cys Single submitter ⚠
- p.Arg1397Cys Single submitter ⚠
- p.Arg1424Gln Single submitter ⚠
- p.Arg1470Gln Single submitter ⚠
- p.Arg1513Cys Single submitter ⚠
- p.Arg1513His Single submitter ⚠
- p.Arg1514Trp Single submitter ⚠
- p.Arg1644Ter Single submitter dystonic disorder
- p.Arg1712Gly Single submitter ⚠
- p.Arg1881Gln Single submitter ⚠
- p.Arg1881Trp Single submitter ⚠
- p.Arg1883Gln Single submitter ⚠
- p.Arg1883Trp Single submitter ⚠
- p.Arg2032Gly Single submitter ⚠
- p.Arg2094Cys Single submitter ⚠
- p.Arg250Trp Single submitter ⚠
- p.Arg251His Single submitter ⚠
- p.Arg320Gln Single submitter ⚠
- p.Arg359Gln Single submitter ⚠
- p.Arg375His Single submitter ⚠
- p.Arg375Ser Single submitter ⚠
- p.Arg390Ser Single submitter ⚠
- p.Arg457Cys Single submitter ⚠
- p.Arg457His Single submitter ⚠
- p.Arg457Ser Single submitter ⚠
- p.Arg469Gln Single submitter ⚠
- p.Arg480His Single submitter ⚠
- p.Arg483Gln Single submitter ⚠
- p.Arg645Trp Single submitter ⚠
- p.Arg654Gln Single submitter ⚠
- p.Arg654Ter Single submitter Febrile seizure (within the age range of 3 months to 6 years)
- p.Arg686Trp Single submitter ⚠
- p.Arg757Gln Single submitter ⚠
- p.Arg862Cys Single submitter ⚠
- p.Arg923Gln Single submitter ⚠
- p.Arg923Trp Single submitter ⚠
- p.Asn108Lys Single submitter ⚠
- p.Asn1245Ser Single submitter ⚠
- p.Asn1340Ser Single submitter ⚠
- p.Asn2011Ile Single submitter ⚠
- p.Asn2118Ser Single submitter ⚠
- p.Asn2125Ser Single submitter ⚠
- p.Asp1098Asn Single submitter ⚠
- p.Asp1386His Single submitter ⚠
- p.Asp1435Gly Single submitter ⚠
- p.Asp1965Gly Single submitter ⚠
- p.Asp1998Glu Single submitter ⚠
- p.Asp2072Glu Single submitter ⚠
- p.Asp2090Asn Single submitter ⚠
- p.Asp2132Glu Single submitter ⚠
- p.Asp254Glu Single submitter ⚠
- p.Asp300Ala Single submitter ⚠
- p.Asp639Asn Single submitter ⚠
- p.Asp852His Single submitter ⚠
- p.Asp916Asn Single submitter ⚠
- p.Cys203Arg Single submitter ⚠
- p.Cys431Ser Single submitter ⚠
- p.Cys582Ser Single submitter ⚠
- p.Cys582Tyr Single submitter ⚠
- p.Gln1085Glu Single submitter ⚠
- p.Gln1667Arg Single submitter ⚠
- p.Gln1674His Single submitter ⚠
- p.Gln1829Arg Single submitter ⚠
- p.Gln2073His Single submitter ⚠
- p.Gln54Arg Single submitter ⚠
- p.Gln771Arg Single submitter ⚠
- p.Gln905Leu Single submitter ⚠
- p.Glu1239Lys Single submitter ⚠
- p.Glu1283Gln Single submitter ⚠
- p.Glu1304Ala Single submitter ⚠
- p.Glu1452Lys Single submitter ⚠
- p.Glu1835Lys Single submitter ⚠
- p.Glu1846Lys Single submitter ⚠
- p.Glu215Lys Single submitter ⚠
- p.Glu2164Gly Single submitter ⚠
- p.Glu290Gln Single submitter ⚠
- p.Glu328Lys Single submitter ⚠
- p.Glu413Lys Single submitter ⚠
- p.Glu494Gln Single submitter ⚠
- p.Glu517Lys Single submitter ⚠
- p.Glu526Lys Single submitter ⚠
- p.Glu555Gly Single submitter ⚠
- p.Glu694Gly Single submitter ⚠
- p.Glu826Gly Single submitter ⚠
- p.Gly1022Ser Single submitter ⚠
- p.Gly1032Ala Single submitter ⚠
- p.Gly1051Val Single submitter ⚠
- p.Gly1107Arg Single submitter ⚠
- p.Gly1107Glu Single submitter ⚠
- p.Gly1107Trp Single submitter ⚠
- p.Gly1308Asp Single submitter ⚠
- p.Gly1309Arg Single submitter ⚠
- p.Gly1327Ser Single submitter ⚠
- p.Gly1739Asp Single submitter ⚠
- p.Gly1739Val Single submitter ⚠
- p.Gly1743Val Single submitter ⚠
- p.Gly1757Val Single submitter ⚠
- p.Gly1789Glu Single submitter ⚠
- p.Gly1954Cys Single submitter ⚠
- p.Gly1982Ser Single submitter ⚠
- p.Gly297Arg Single submitter ⚠
- p.Gly334Arg Single submitter ⚠
- p.Gly334Val Single submitter ⚠
- p.Gly682Val Single submitter ⚠
- p.Gly776Ser Single submitter ⚠
- p.Gly800Ala Single submitter ⚠
- p.His1220Tyr Single submitter ⚠
- p.His1224fs Single submitter neurodevelopmental disorder
- p.His1519Tyr Single submitter ⚠
- p.His1685Tyr Single submitter ⚠
- p.His247Gln Single submitter ⚠
- p.His400Arg Single submitter ⚠
- p.His671Tyr Single submitter ⚠
- p.Ile1281Leu Single submitter ⚠
- p.Ile1413Met Single submitter ⚠
- p.Ile1437Phe Single submitter ⚠
- p.Ile143Thr Single submitter ⚠
- p.Ile1451Thr Single submitter ⚠
- p.Ile1497Val Single submitter ⚠
- p.Ile1533Val Single submitter ⚠
- p.Ile1588Val Single submitter ⚠
- p.Ile1800Leu Single submitter ⚠
- p.Ile182Lys Single submitter ⚠
- p.Ile2175Phe Single submitter ⚠
- p.Ile369Thr Single submitter ⚠
- p.Ile394Val Single submitter ⚠
- p.Ile474Asn Single submitter ⚠
- p.Ile505Val Single submitter ⚠
- p.Ile630Val Single submitter ⚠
- p.Ile677Met Single submitter ⚠
- p.Ile816Phe Single submitter ⚠
- p.Ile900Met Single submitter ⚠
- p.Ile97Met Single submitter ⚠
- p.Leu1052Pro Single submitter ⚠
- p.Leu1082Met Single submitter ⚠
- p.Leu1392Val Single submitter ⚠
- p.Leu1426Arg Single submitter ⚠
- p.Leu1426Val Single submitter ⚠
- p.Leu1821Gln Single submitter ⚠
- p.Leu1911Val Single submitter ⚠
- p.Leu1987Gln Single submitter ⚠
- p.Leu229Phe Single submitter ⚠
- p.Leu453Gln Single submitter ⚠
- p.Leu64Val Single submitter ⚠
- p.Leu834Gln Single submitter ⚠
- p.Lys1045Asn Single submitter ⚠
- p.Lys1311Asn Single submitter ⚠
- p.Lys1563Glu Single submitter ⚠
- p.Lys2003Glu Single submitter ⚠
- p.Lys391Arg Single submitter ⚠
- p.Lys417Arg Single submitter ⚠
- p.Lys417Gln Single submitter ⚠
- p.Met1973Ile Single submitter ⚠
- p.Met2119Val Single submitter ⚠
- p.Met246Thr Single submitter ⚠
- p.Met366Val Single submitter ⚠
- p.Met616Val Single submitter ⚠
- p.Phe1183Leu Single submitter ⚠
- p.Phe1232Cys Single submitter ⚠
- p.Phe1335Ser Single submitter ⚠
- p.Phe1481Leu Single submitter ⚠
- p.Phe1842Ser Single submitter ⚠
- p.Phe860Ile Single submitter ⚠
- p.Pro1081Ser Single submitter ⚠
- p.Pro1597Ser Single submitter ⚠
- p.Pro1696Leu Single submitter ⚠
- p.Pro1696Ser Single submitter ⚠
- p.Pro1872Ala Single submitter ⚠
- p.Pro1885Ser Single submitter ⚠
- p.Pro1930Thr Single submitter ⚠
- p.Pro1950Ser Single submitter ⚠
- p.Pro2056Arg Single submitter ⚠
- p.Pro296Leu Single submitter ⚠
- p.Pro355Gln Single submitter ⚠
- p.Pro356Ser Single submitter ⚠
- p.Pro42Thr Single submitter ⚠
- p.Pro644Ser Single submitter ⚠
- p.Ser1163Cys Single submitter ⚠
- p.Ser1208Arg Single submitter ⚠
- p.Ser1509Cys Single submitter ⚠
- p.Ser1741Ala Single submitter ⚠
- p.Ser1945Cys Single submitter ⚠
- p.Ser1945Phe Single submitter ⚠
- p.Ser286Asn Single submitter ⚠
- p.Ser372Ile Single submitter ⚠
- p.Ser529Leu Single submitter ⚠
- p.Ser610Pro Single submitter ⚠
- p.Ser714Pro Single submitter ⚠
- p.Ser782Cys Single submitter ⚠
- p.Ser827Asn Single submitter ⚠
- p.Thr1129Ser Single submitter ⚠
- p.Thr1488Met Single submitter ⚠
- p.Thr2136Arg Single submitter ⚠
- p.Thr2150Ser Single submitter ⚠
- p.Thr276Ser Single submitter ⚠
- p.Thr412Ile Single submitter ⚠
- p.Thr514Ala Single submitter ⚠
- p.Thr547Met Single submitter ⚠
- p.Thr568Met Single submitter ⚠
- p.Thr706Ala Single submitter ⚠
- p.Thr817Ala Single submitter ⚠
- p.Thr817Ile Single submitter ⚠
- p.Thr964Ile Single submitter ⚠
- p.Tyr1322Phe Single submitter ⚠
- p.Tyr1521Cys Single submitter ⚠
- p.Tyr1729Asn Single submitter ⚠
- p.Tyr1807Cys Single submitter ⚠
- p.Tyr1807His Single submitter ⚠
- p.Tyr863Cys Single submitter ⚠
- p.Val1021Leu Single submitter ⚠
- p.Val1277Ile Single submitter ⚠
- p.Val1306Ala Single submitter ⚠
- p.Val135Met Single submitter ⚠
- p.Val1487Met Single submitter ⚠
- p.Val1510Ala Single submitter ⚠
- p.Val1510Ile Single submitter ⚠
- p.Val1591Ile Single submitter ⚠
- p.Val1598Met Single submitter ⚠
- p.Val159Gly Single submitter ⚠
- p.Val1709Met Single submitter ⚠
- p.Val1840Leu Single submitter ⚠
- p.Val1901Ala Single submitter ⚠
- p.Val1994Leu Single submitter ⚠
- p.Val207Phe Single submitter ⚠
- p.Val2123Leu Single submitter ⚠
- p.Val266Met Single submitter ⚠
- p.Val342Met Single submitter ⚠
- p.Val360Met Single submitter ⚠
- p.Val557Ile Single submitter ⚠
- p.Val627Met Single submitter ⚠
- p.Val696Leu Single submitter ⚠
- p.Val764Leu Single submitter ⚠
- p.Val930Ile Single submitter ⚠
- p.Val990Ile Single submitter ⚠
- p.Arg1873Lys No assertion criteria ARFGEF3-related disorder ⚠
- p.Tyr353Ter No assertion criteria ARFGEF3-related disorder