ARHGEF28 — 466 ClinVar variants
All ClinVar germline ARHGEF28 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 256 flagged for review →
1 Conflicting · 106 Benign · 7 Benign/Likely benign · 87 Likely benign · 265 Uncertain significance
Full ARHGEF28 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 256
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.
-
ARHGEF28 p.Ser661Phe
Conflicting
No assertion criteria
Meniere disease
Predictors lean, ClinVar uncertain 215
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 215
-
ARHGEF28 p.Arg1182Trp
Uncertain significance
Multiple submitters
ARHGEF28-related disorder
- ARHGEF28 p.Arg1555Gln Uncertain significance Multiple submitters
-
ARHGEF28 p.Asn1178Ser
Uncertain significance
Multiple submitters
ARHGEF28-related disorder
-
ARHGEF28 p.Asn685Lys
Uncertain significance
Multiple submitters
ARHGEF28-related disorder
-
ARHGEF28 p.Asn984Ser
Uncertain significance
Multiple submitters
ARHGEF28-related disorder
-
ARHGEF28 p.Glu197Lys
Uncertain significance
Multiple submitters
ARHGEF28-related disorder
-
ARHGEF28 p.Leu1350Val
Uncertain significance
Multiple submitters
ARHGEF28-related disorder
-
ARHGEF28 p.Pro428Ser
Uncertain significance
Multiple submitters
ARHGEF28-related disorder
-
ARHGEF28 p.Ser297Arg
Uncertain significance
Multiple submitters
ARHGEF28-related disorder
- ARHGEF28 p.Ala1231Val Uncertain significance Single submitter
- ARHGEF28 p.Ala126Thr Uncertain significance Single submitter
- ARHGEF28 p.Ala1295Thr Uncertain significance Single submitter
- ARHGEF28 p.Ala1355Ser Uncertain significance Single submitter
-
ARHGEF28 p.Ala1464Val
Uncertain significance
Single submitter
ARHGEF28-related disorder
- ARHGEF28 p.Ala1570Thr Uncertain significance Single submitter
- ARHGEF28 p.Ala1673Val Uncertain significance Single submitter
-
ARHGEF28 p.Ala293Thr
Uncertain significance
Single submitter
ARHGEF28-related disorder
- ARHGEF28 p.Ala360Thr Uncertain significance Single submitter
- ARHGEF28 p.Ala484Ser Uncertain significance Single submitter
-
ARHGEF28 p.Ala696Val
Uncertain significance
Single submitter
ARHGEF28-related disorder
- ARHGEF28 p.Arg1028His Uncertain significance Single submitter
- ARHGEF28 p.Arg1028Ser Uncertain significance Single submitter
- ARHGEF28 p.Arg109His Uncertain significance Single submitter
- ARHGEF28 p.Arg1101Cys Uncertain significance Single submitter
- ARHGEF28 p.Arg1101His Uncertain significance Single submitter
- ARHGEF28 p.Arg1206Lys Uncertain significance Single submitter
- ARHGEF28 p.Arg1334Lys Uncertain significance Single submitter
- ARHGEF28 p.Arg1381Cys Uncertain significance Single submitter
- ARHGEF28 p.Arg1381His Uncertain significance Single submitter
- ARHGEF28 p.Arg1456His Uncertain significance Single submitter
- ARHGEF28 p.Arg1463Trp Uncertain significance Single submitter
- ARHGEF28 p.Arg1490Trp Uncertain significance Single submitter
- ARHGEF28 p.Arg1508Lys Uncertain significance Single submitter
- ARHGEF28 p.Arg1522Gly Uncertain significance Single submitter
- ARHGEF28 p.Arg1522Trp Uncertain significance Single submitter
- ARHGEF28 p.Arg1535Leu Uncertain significance Single submitter
- ARHGEF28 p.Arg1668Cys Uncertain significance Single submitter
- ARHGEF28 p.Arg224Gly Uncertain significance Single submitter
- ARHGEF28 p.Arg231Gln Uncertain significance Single submitter
- ARHGEF28 p.Arg291Lys Uncertain significance Single submitter
- ARHGEF28 p.Arg322His Uncertain significance Single submitter
-
ARHGEF28 p.Arg343Cys
Uncertain significance
Single submitter
Meniere disease
- ARHGEF28 p.Arg553His Uncertain significance Single submitter
- ARHGEF28 p.Arg555His Uncertain significance Single submitter
- ARHGEF28 p.Arg573Gly Uncertain significance Single submitter
- ARHGEF28 p.Arg573His Uncertain significance Single submitter
- ARHGEF28 p.Arg594Lys Uncertain significance Single submitter
- ARHGEF28 p.Arg629Lys Uncertain significance Single submitter
- ARHGEF28 p.Arg652Leu Uncertain significance Single submitter
- ARHGEF28 p.Arg786Gly Uncertain significance Single submitter
- ARHGEF28 p.Arg915Lys Uncertain significance Single submitter
- ARHGEF28 p.Asn1051Lys Uncertain significance Single submitter
- ARHGEF28 p.Asn1171Thr Uncertain significance Single submitter
- ARHGEF28 p.Asn1178Lys Uncertain significance Single submitter
- ARHGEF28 p.Asn708Ser Uncertain significance Single submitter
- ARHGEF28 p.Asp1431Gly Uncertain significance Single submitter
- ARHGEF28 p.Asp1601Asn Uncertain significance Single submitter
- ARHGEF28 p.Asp1652Tyr Uncertain significance Single submitter
- ARHGEF28 p.Asp1691Glu Uncertain significance Single submitter
- ARHGEF28 p.Asp515Gly Uncertain significance Single submitter
- ARHGEF28 p.Asp518Gly Uncertain significance Single submitter
-
ARHGEF28 p.Asp723His
Uncertain significance
Single submitter
ARHGEF28-related disorder
- ARHGEF28 p.Asp779Val Uncertain significance Single submitter
- ARHGEF28 p.Cys452Arg Uncertain significance Single submitter
- ARHGEF28 p.Cys498Tyr Uncertain significance Single submitter
- ARHGEF28 p.Gln1449Arg Uncertain significance Single submitter
- ARHGEF28 p.Gln1670His Uncertain significance Single submitter
- ARHGEF28 p.Gln382Glu Uncertain significance Single submitter
- ARHGEF28 p.Gln665Arg Uncertain significance Single submitter
- ARHGEF28 p.Gln824Arg Uncertain significance Single submitter
- ARHGEF28 p.Glu1242Lys Uncertain significance Single submitter
- ARHGEF28 p.Glu1371Ala Uncertain significance Single submitter
- ARHGEF28 p.Glu1436Asp Uncertain significance Single submitter
- ARHGEF28 p.Glu1474Lys Uncertain significance Single submitter
- ARHGEF28 p.Glu1484Lys Uncertain significance Single submitter
- ARHGEF28 p.Glu148Lys Uncertain significance Single submitter
- ARHGEF28 p.Glu289Gln Uncertain significance Single submitter
- ARHGEF28 p.Glu316Lys Uncertain significance Single submitter
- ARHGEF28 p.Glu489Ala Uncertain significance Single submitter
- ARHGEF28 p.Glu600Asp Uncertain significance Single submitter
- ARHGEF28 p.Glu602Lys Uncertain significance Single submitter
- ARHGEF28 p.Glu775Gly Uncertain significance Single submitter
-
ARHGEF28 p.Glu7Lys
Uncertain significance
Single submitter
ARHGEF28-related disorder
- ARHGEF28 p.Gly1248Ala Uncertain significance Single submitter
- ARHGEF28 p.Gly1248Val Uncertain significance Single submitter
- ARHGEF28 p.Gly1305Ala Uncertain significance Single submitter
- ARHGEF28 p.Gly1333Val Uncertain significance Single submitter
- ARHGEF28 p.Gly1335Ser Uncertain significance Single submitter
- ARHGEF28 p.Gly1342Arg Uncertain significance Single submitter
- ARHGEF28 p.Gly1534Ala Uncertain significance Single submitter
- ARHGEF28 p.Gly1697Arg Uncertain significance Single submitter
- ARHGEF28 p.Gly298Ser Uncertain significance Single submitter
- ARHGEF28 p.Gly750Glu Uncertain significance Single submitter
- ARHGEF28 p.Gly761Ser Uncertain significance Single submitter
- ARHGEF28 p.His1414Arg Uncertain significance Single submitter
- ARHGEF28 p.His1561Arg Uncertain significance Single submitter
- ARHGEF28 p.His1588Arg Uncertain significance Single submitter
- ARHGEF28 p.His1655Arg Uncertain significance Single submitter
- ARHGEF28 p.His1655Pro Uncertain significance Single submitter
- ARHGEF28 p.His1662Asp Uncertain significance Single submitter
- ARHGEF28 p.His337Gln Uncertain significance Single submitter
- ARHGEF28 p.His62Arg Uncertain significance Single submitter
- ARHGEF28 p.His732Asn Uncertain significance Single submitter
- ARHGEF28 p.His732Tyr Uncertain significance Single submitter
- ARHGEF28 p.His887Arg Uncertain significance Single submitter
- ARHGEF28 p.Ile1061Thr Uncertain significance Single submitter
- ARHGEF28 p.Ile1142Met Uncertain significance Single submitter
- ARHGEF28 p.Ile1183Phe Uncertain significance Single submitter
- ARHGEF28 p.Ile1373Val Uncertain significance Single submitter
- ARHGEF28 p.Ile1397Val Uncertain significance Single submitter
- ARHGEF28 p.Ile724Asn Uncertain significance Single submitter
- ARHGEF28 p.Ile870Asn Uncertain significance Single submitter
-
ARHGEF28 p.Ile870Val
Uncertain significance
Single submitter
ARHGEF28-related disorder
- ARHGEF28 p.Leu1115His Uncertain significance Single submitter
- ARHGEF28 p.Leu1117Phe Uncertain significance Single submitter
- ARHGEF28 p.Leu1246Arg Uncertain significance Single submitter
- ARHGEF28 p.Leu140Val Uncertain significance Single submitter
-
ARHGEF28 p.Leu1410Arg
Uncertain significance
Single submitter
ARHGEF28-related disorder
- ARHGEF28 p.Leu1504Pro Uncertain significance Single submitter
- ARHGEF28 p.Leu157Pro Uncertain significance Single submitter
-
ARHGEF28 p.Leu1612Pro
Uncertain significance
Single submitter
Meniere disease
- ARHGEF28 p.Leu1637Arg Uncertain significance Single submitter
- ARHGEF28 p.Leu348Pro Uncertain significance Single submitter
- ARHGEF28 p.Leu74Phe Uncertain significance Single submitter
- ARHGEF28 p.Leu793Pro Uncertain significance Single submitter
- ARHGEF28 p.Leu819Phe Uncertain significance Single submitter
- ARHGEF28 p.Leu99Val Uncertain significance Single submitter
- ARHGEF28 p.Lys605Asn Uncertain significance Single submitter
- ARHGEF28 p.Met14Val Uncertain significance Single submitter
- ARHGEF28 p.Met366Ile Uncertain significance Single submitter
- ARHGEF28 p.Met446Thr Uncertain significance Single submitter
- ARHGEF28 p.Met45Ile Uncertain significance Single submitter
- ARHGEF28 p.Met84Val Uncertain significance Single submitter
- ARHGEF28 p.Met947Ile Uncertain significance Single submitter
- ARHGEF28 p.Phe1565Leu Uncertain significance Single submitter
- ARHGEF28 p.Phe445Ile Uncertain significance Single submitter
- ARHGEF28 p.Pro1584Thr Uncertain significance Single submitter
- ARHGEF28 p.Pro1661Ser Uncertain significance Single submitter
- ARHGEF28 p.Pro1683Leu Uncertain significance Single submitter
- ARHGEF28 p.Pro1683Ser Uncertain significance Single submitter
- ARHGEF28 p.Pro195Arg Uncertain significance Single submitter
- ARHGEF28 p.Pro195Leu Uncertain significance Single submitter
- ARHGEF28 p.Pro402Ala Uncertain significance Single submitter
- ARHGEF28 p.Pro402Ser Uncertain significance Single submitter
- ARHGEF28 p.Pro419Ser Uncertain significance Single submitter
- ARHGEF28 p.Pro424Ser Uncertain significance Single submitter
- ARHGEF28 p.Pro501Ala Uncertain significance Single submitter
- ARHGEF28 p.Pro562Ala Uncertain significance Single submitter
- ARHGEF28 p.Pro592Ala Uncertain significance Single submitter
- ARHGEF28 p.Pro592Ser Uncertain significance Single submitter
Predictors split 40
The independent predictors disagree with each other — read with care.
- ARHGEF28 p.Arg621Gln Benign/Likely benign Multiple submitters
-
ARHGEF28 p.Thr622Asn
Uncertain significance
Multiple submitters
ARHGEF28-related disorder
-
ARHGEF28 p.Ala1030Gly
Uncertain significance
Single submitter
ARHGEF28-related disorder
- ARHGEF28 p.Arg1477Pro Uncertain significance Single submitter
- ARHGEF28 p.Arg1477Trp Uncertain significance Single submitter
- ARHGEF28 p.Arg1488Trp Uncertain significance Single submitter
- ARHGEF28 p.Arg208Cys Uncertain significance Single submitter
- ARHGEF28 p.Arg42Gln Uncertain significance Single submitter
- ARHGEF28 p.Arg49His Uncertain significance Single submitter
- ARHGEF28 p.Asn1071Lys Uncertain significance Single submitter
- ARHGEF28 p.Asn196Ser Uncertain significance Single submitter
- ARHGEF28 p.Asp274Gly Uncertain significance Single submitter
- ARHGEF28 p.Gln1446Pro Uncertain significance Single submitter
- ARHGEF28 p.Glu1235Lys Uncertain significance Single submitter
-
ARHGEF28 p.Glu1450Lys
Uncertain significance
Single submitter
ARHGEF28-related disorder
- ARHGEF28 p.Ile1376Thr Uncertain significance Single submitter
- ARHGEF28 p.Ile1399Ser Uncertain significance Single submitter
- ARHGEF28 p.Leu1705His Uncertain significance Single submitter
- ARHGEF28 p.Met84Arg Uncertain significance Single submitter
- ARHGEF28 p.Phe625Leu Uncertain significance Single submitter
- ARHGEF28 p.Phe907Leu Uncertain significance Single submitter
- ARHGEF28 p.Pro1268Ser Uncertain significance Single submitter
- ARHGEF28 p.Pro81Leu Uncertain significance Single submitter
- ARHGEF28 p.Ser1385Gly Uncertain significance Single submitter
- ARHGEF28 p.Ser1538Asn Uncertain significance Single submitter
- ARHGEF28 p.Ser1538Ile Uncertain significance Single submitter
- ARHGEF28 p.Ser246Trp Uncertain significance Single submitter
- ARHGEF28 p.Ser682Cys Uncertain significance Single submitter
- ARHGEF28 p.Ser758Arg Uncertain significance Single submitter
- ARHGEF28 p.Thr1097Ala Uncertain significance Single submitter
- ARHGEF28 p.Thr125Met Uncertain significance Single submitter
- ARHGEF28 p.Tyr1704Asn Uncertain significance Single submitter
- ARHGEF28 p.Val1129Leu Uncertain significance Single submitter
- ARHGEF28 p.Val137Met Uncertain significance Single submitter
- ARHGEF28 p.Val218Ala Uncertain significance Single submitter
-
ARHGEF28 p.Arg930Gln
Likely benign
No assertion criteria
ARHGEF28-related disorder
-
ARHGEF28 p.Asp274Tyr
Likely benign
No assertion criteria
ARHGEF28-related disorder
-
ARHGEF28 p.Leu1705Phe
Uncertain significance
No assertion criteria
ARHGEF28-related disorder
-
ARHGEF28 p.Pro186Leu
Likely benign
No assertion criteria
ARHGEF28-related disorder
-
ARHGEF28 p.Tyr1384His
Uncertain significance
No assertion criteria
ARHGEF28-related disorder
All ARHGEF28 variants
Conflicting classifications of pathogenicity 1
- p.Ser661Phe No assertion criteria Meniere disease ⚠
Benign 106
- c.1024+12C>T Multiple submitters
- c.1024+18272G>A Multiple submitters
- c.1635+80A>G Multiple submitters
- c.1747+107A>G Multiple submitters
- c.1748-46C>T Multiple submitters
- c.1791-152G>A Multiple submitters
- c.1791-68T>C Multiple submitters
- c.2103+33G>A Multiple submitters
- c.2103+78A>G Multiple submitters
- c.2297+16= Multiple submitters
- c.2937+131T>G Multiple submitters
- c.33+128G>A Multiple submitters
- c.33+160G>C Multiple submitters
- c.34-156T>C Multiple submitters
- c.34-183A>G Multiple submitters
- c.3658+32G>A Multiple submitters
- c.3659-18G>C Multiple submitters
- c.3659-44A>G Multiple submitters
- c.3659-99T>A Multiple submitters
- c.3841+246G>A Multiple submitters
- c.3842-175C>T Multiple submitters
- c.3974-166A>T Multiple submitters
- c.3974-199C>T Multiple submitters
- c.3974-248G>A Multiple submitters
- c.4074+292C>G Multiple submitters
- c.4074+316C>T Multiple submitters
- c.4074+76A>C Multiple submitters
- c.4074+91G>A Multiple submitters
- c.4075-242A>T Multiple submitters
- c.476-100C>T Multiple submitters
- c.476-99A>G Multiple submitters
- c.4948+11461G>A Multiple submitters
- c.4948+11554C>T Multiple submitters
- c.4948+11759T>C Multiple submitters
- c.4948+117T>C Multiple submitters
- c.841-44G>A Multiple submitters
- c.911-138T>G Multiple submitters
- c.911-288A>G Multiple submitters
- c.964-30T>A Multiple submitters
- c.964-7C>T Multiple submitters
- p.Ala1098= Multiple submitters
- p.Ala128= Multiple submitters
- p.Ala1541Gly Multiple submitters
- p.Ala315= Multiple submitters
- p.Arg1463Gln Multiple submitters
- p.Arg275= Multiple submitters
- p.Arg322Cys Multiple submitters
- p.Arg585Lys Multiple submitters
- p.Asp1251= Multiple submitters
- p.Gly761= Multiple submitters
- p.His1640Gln Multiple submitters
- p.His780Asn Multiple submitters
- p.Leu1612= Multiple submitters
- p.Lys317= Multiple submitters
- p.Pro1548Ser Multiple submitters
- p.Pro284Gln Multiple submitters
- p.Ser1654Pro Multiple submitters
- p.Ser544Leu Multiple submitters
- p.Ser560= Multiple submitters
- p.Trp225Arg Multiple submitters
- p.Tyr1006= Multiple submitters
- p.Val89= Multiple submitters
- c.1024+225del Single submitter
- c.1024+289T>C Single submitter
- c.1025-18411del Single submitter
- c.1025-301A>G Single submitter
- c.1025-315T>C Single submitter
- c.1146+262C>T Single submitter
- c.1427+133T>G Single submitter
- c.1428-199C>T Single submitter
- c.1428-267A>G Single submitter
- c.1748-155C>T Single submitter
- c.1748-181A>G Single submitter
- c.1790+293A>G Single submitter
- c.1790+307C>T Single submitter
- c.1791-91AC[9] Single submitter
- c.1914+150A>C Single submitter
- c.2048-223G>A Single submitter
- c.2104-212A>G Single submitter
- c.2104-232C>A Single submitter
- c.2425+154C>A Single submitter
- c.2425+209C>T Single submitter
- c.2426-154C>A Single submitter
- c.2426-155dup Single submitter
- c.2566+320A>C Single submitter
- c.2567-245G>A Single submitter
- c.2815-192C>T Single submitter
- c.3388-217A>C Single submitter
- c.34-240G>C Single submitter
- c.3842-304G>A Single submitter
- c.4648-107A>G Single submitter
- c.4648-300T>C Single submitter
- c.659+169A>G Single submitter
- c.910+296_910+298del Single submitter
- c.963+169_963+170del Single submitter
- c.963+215C>T Single submitter
- c.963+254A>G Single submitter
- c.963+255T>C Single submitter
- c.963+291T>A Single submitter
- c.963+298G>A Single submitter
- c.-11-292T>G Single submitter
- p.Ala1673= Single submitter
- p.Arg1453Leu Single submitter
- p.Asn108Ser Single submitter
- p.Leu1117= Single submitter
- c.1024+18212C>T No assertion criteria ARHGEF28-related disorder
Benign/Likely benign 7
- p.Ala1629= Multiple submitters
- p.Arg621Gln Multiple submitters ⚠
- p.Asn651Ser Multiple submitters
- p.Ser311= Multiple submitters
- p.Thr105= Multiple submitters
- p.Thr1348= Multiple submitters
- c.4114-15A>G No assertion criteria
Likely benign 87
- p.Leu575Phe Multiple submitters
- p.Thr201= Multiple submitters
- p.Val1352Ile Multiple submitters
- c.3311-4A>G Single submitter
- c.4161+16T>C Single submitter
- c.4948+11568G>A Single submitter
- c.840+9A>G Single submitter
- p.Ala1541= Single submitter
- p.Ala257= Single submitter
- p.Arg1211Ile Single submitter
- p.Arg1401Lys Single submitter
- p.Arg362Gln Single submitter
- p.Arg573Cys Single submitter
- p.Asn687= Single submitter
- p.Asn718Ser Single submitter
- p.Glu1049= Single submitter
- p.Glu1450Asp Single submitter
- p.Gly1534Ser Single submitter
- p.His1533= Single submitter
- p.Ile16Val Single submitter
- p.Leu1087= Single submitter
- p.Leu1447Phe Single submitter
- p.Lys1214Arg Single submitter
- p.Met45Val Single submitter
- p.Ser641Asn Single submitter
- p.Thr1391Asn Single submitter Meniere disease
- p.Thr1684Ala Single submitter
- p.Thr67Met Single submitter
- p.Val426Met Single submitter
- c.1024+18233G>A No assertion criteria ARHGEF28-related disorder
- c.1636-10T>C No assertion criteria ARHGEF28-related disorder
- c.1747+9C>T No assertion criteria ARHGEF28-related disorder
- c.2152+10G>A No assertion criteria ARHGEF28-related disorder
- c.2152+4A>T No assertion criteria ARHGEF28-related disorder
- c.2426-5A>G No assertion criteria ARHGEF28-related disorder
- c.3056-4G>A No assertion criteria ARHGEF28-related disorder
- c.3658+7T>C No assertion criteria ARHGEF28-related disorder
- c.4948+11555G>A No assertion criteria ARHGEF28-related disorder
- c.840+10T>C No assertion criteria ARHGEF28-related disorder
- c.840+6T>C No assertion criteria ARHGEF28-related disorder
- p.Ala1030= No assertion criteria ARHGEF28-related disorder
- p.Ala1147= No assertion criteria ARHGEF28-related disorder
- p.Ala1310= No assertion criteria ARHGEF28-related disorder
- p.Ala1310Val No assertion criteria ARHGEF28-related disorder
- p.Ala276= No assertion criteria ARHGEF28-related disorder
- p.Ala484= No assertion criteria ARHGEF28-related disorder
- p.Arg1028Cys No assertion criteria ARHGEF28-related disorder
- p.Arg1685Lys No assertion criteria ARHGEF28-related disorder
- p.Arg343His No assertion criteria ARHGEF28-related disorder
- p.Arg914= No assertion criteria ARHGEF28-related disorder
- p.Arg930Gln No assertion criteria ARHGEF28-related disorder ⚠
- p.Asn1046Ser No assertion criteria ARHGEF28-related disorder
- p.Asn718Thr No assertion criteria ARHGEF28-related disorder
- p.Asp1494Tyr No assertion criteria ARHGEF28-related disorder
- p.Asp274Tyr No assertion criteria ARHGEF28-related disorder ⚠
- p.Gln1449= No assertion criteria ARHGEF28-related disorder
- p.Glu1436Gly No assertion criteria ARHGEF28-related disorder
- p.Glu1484= No assertion criteria ARHGEF28-related disorder
- p.Glu1549= No assertion criteria ARHGEF28-related disorder
- p.Glu591= No assertion criteria ARHGEF28-related disorder
- p.Glu917= No assertion criteria ARHGEF28-related disorder
- p.Gly12= No assertion criteria ARHGEF28-related disorder
- p.Gly127Ala No assertion criteria ARHGEF28-related disorder
- p.Gly187= No assertion criteria ARHGEF28-related disorder
- p.His957= No assertion criteria ARHGEF28-related disorder
- p.Leu1092= No assertion criteria ARHGEF28-related disorder
- p.Leu118= No assertion criteria ARHGEF28-related disorder
- p.Leu1259= No assertion criteria ARHGEF28-related disorder
- p.Phe767= No assertion criteria ARHGEF28-related disorder
- p.Pro1191= No assertion criteria ARHGEF28-related disorder
- p.Pro1256= No assertion criteria ARHGEF28-related disorder
- p.Pro186Leu No assertion criteria ARHGEF28-related disorder ⚠
- p.Pro353Leu No assertion criteria ARHGEF28-related disorder
- p.Pro501= No assertion criteria ARHGEF28-related disorder
- p.Pro526= No assertion criteria ARHGEF28-related disorder
- p.Ser1247= No assertion criteria ARHGEF28-related disorder
- p.Ser1632= No assertion criteria ARHGEF28-related disorder
- p.Ser297= No assertion criteria ARHGEF28-related disorder
- p.Ser730= No assertion criteria ARHGEF28-related disorder
- p.Ser830= No assertion criteria ARHGEF28-related disorder
- p.Thr120= No assertion criteria ARHGEF28-related disorder
- p.Thr1653= No assertion criteria ARHGEF28-related disorder
- p.Thr248= No assertion criteria ARHGEF28-related disorder
- p.Thr67= No assertion criteria ARHGEF28-related disorder
- p.Thr802= No assertion criteria ARHGEF28-related disorder
- p.Tyr1232Cys No assertion criteria ARHGEF28-related disorder
- p.Val215= No assertion criteria ARHGEF28-related disorder
Uncertain significance 265
- p.Arg1182Trp Multiple submitters ARHGEF28-related disorder ⚠
- p.Arg1555Gln Multiple submitters ⚠
- p.Asn1178Ser Multiple submitters ARHGEF28-related disorder ⚠
- p.Asn685Lys Multiple submitters ARHGEF28-related disorder ⚠
- p.Asn984Ser Multiple submitters ARHGEF28-related disorder ⚠
- p.Glu197Lys Multiple submitters ARHGEF28-related disorder ⚠
- p.Leu1350Val Multiple submitters ARHGEF28-related disorder ⚠
- p.Pro428Ser Multiple submitters ARHGEF28-related disorder ⚠
- p.Ser297Arg Multiple submitters ARHGEF28-related disorder ⚠
- p.Thr622Asn Multiple submitters ARHGEF28-related disorder ⚠
- c.1024+18217C>T Single submitter ARHGEF28-related disorder
- c.3388-6A>G Single submitter
- c.3566+1G>A Single submitter ARHGEF28-related disorder
- c.4113+5G>A Single submitter ARHGEF28-related disorder
- c.4948+11523A>T Single submitter
- c.4948+11535T>C Single submitter
- p.Ala1030Gly Single submitter ARHGEF28-related disorder ⚠
- p.Ala1231Val Single submitter ⚠
- p.Ala126Thr Single submitter ⚠
- p.Ala1295Thr Single submitter ⚠
- p.Ala1355Ser Single submitter ⚠
- p.Ala1464Val Single submitter ARHGEF28-related disorder ⚠
- p.Ala1570Thr Single submitter ⚠
- p.Ala1673Val Single submitter ⚠
- p.Ala293Thr Single submitter ARHGEF28-related disorder ⚠
- p.Ala360Thr Single submitter ⚠
- p.Ala484Ser Single submitter ⚠
- p.Ala696Val Single submitter ARHGEF28-related disorder ⚠
- p.Arg1028His Single submitter ⚠
- p.Arg1028Ser Single submitter ⚠
- p.Arg109His Single submitter ⚠
- p.Arg1101Cys Single submitter ⚠
- p.Arg1101His Single submitter ⚠
- p.Arg1206Lys Single submitter ⚠
- p.Arg1334Lys Single submitter ⚠
- p.Arg1381Cys Single submitter ⚠
- p.Arg1381His Single submitter ⚠
- p.Arg1456His Single submitter ⚠
- p.Arg1463Trp Single submitter ⚠
- p.Arg1477Pro Single submitter ⚠
- p.Arg1477Trp Single submitter ⚠
- p.Arg1488Trp Single submitter ⚠
- p.Arg1490Trp Single submitter ⚠
- p.Arg1508Lys Single submitter ⚠
- p.Arg1522Gly Single submitter ⚠
- p.Arg1522Trp Single submitter ⚠
- p.Arg1535Leu Single submitter ⚠
- p.Arg1668Cys Single submitter ⚠
- p.Arg208Cys Single submitter ⚠
- p.Arg224Gly Single submitter ⚠
- p.Arg231Gln Single submitter ⚠
- p.Arg291Lys Single submitter ⚠
- p.Arg322His Single submitter ⚠
- p.Arg343Cys Single submitter Meniere disease ⚠
- p.Arg42Gln Single submitter ⚠
- p.Arg49His Single submitter ⚠
- p.Arg553Cys Single submitter ARHGEF28-related disorder
- p.Arg553His Single submitter ⚠
- p.Arg555His Single submitter ⚠
- p.Arg573Gly Single submitter ⚠
- p.Arg573His Single submitter ⚠
- p.Arg594Lys Single submitter ⚠
- p.Arg629Lys Single submitter ⚠
- p.Arg652Leu Single submitter ⚠
- p.Arg786Gly Single submitter ⚠
- p.Arg915Lys Single submitter ⚠
- p.Asn1051Lys Single submitter ⚠
- p.Asn1071Lys Single submitter ⚠
- p.Asn1171Thr Single submitter ⚠
- p.Asn1178Lys Single submitter ⚠
- p.Asn196Ser Single submitter ⚠
- p.Asn708Ser Single submitter ⚠
- p.Asp1431Gly Single submitter ⚠
- p.Asp1601Asn Single submitter ⚠
- p.Asp1652Tyr Single submitter ⚠
- p.Asp1691Glu Single submitter ⚠
- p.Asp274Gly Single submitter ⚠
- p.Asp515Gly Single submitter ⚠
- p.Asp518Gly Single submitter ⚠
- p.Asp723His Single submitter ARHGEF28-related disorder ⚠
- p.Asp779Val Single submitter ⚠
- p.Cys452Arg Single submitter ⚠
- p.Cys498Tyr Single submitter ⚠
- p.Cys896Arg Single submitter
- p.Gln1446Pro Single submitter ⚠
- p.Gln1449Arg Single submitter ⚠
- p.Gln1670His Single submitter ⚠
- p.Gln382Glu Single submitter ⚠
- p.Gln665Arg Single submitter ⚠
- p.Gln824Arg Single submitter ⚠
- p.Glu1235Lys Single submitter ⚠
- p.Glu1242Lys Single submitter ⚠
- p.Glu1371Ala Single submitter ⚠
- p.Glu1436Asp Single submitter ⚠
- p.Glu1450Lys Single submitter ARHGEF28-related disorder ⚠
- p.Glu1474Lys Single submitter ⚠
- p.Glu1484Lys Single submitter ⚠
- p.Glu148Lys Single submitter ⚠
- p.Glu289Gln Single submitter ⚠
- p.Glu316Lys Single submitter ⚠
- p.Glu489Ala Single submitter ⚠
- p.Glu600Asp Single submitter ⚠
- p.Glu602Lys Single submitter ⚠
- p.Glu775Gly Single submitter ⚠
- p.Glu7Lys Single submitter ARHGEF28-related disorder ⚠
- p.Gly1248Ala Single submitter ⚠
- p.Gly1248Val Single submitter ⚠
- p.Gly1305Ala Single submitter ⚠
- p.Gly1333Val Single submitter ⚠
- p.Gly1335Ser Single submitter ⚠
- p.Gly1342Arg Single submitter ⚠
- p.Gly1534Ala Single submitter ⚠
- p.Gly1697Arg Single submitter ⚠
- p.Gly298Ser Single submitter ⚠
- p.Gly750Glu Single submitter ⚠
- p.Gly761Ser Single submitter ⚠
- p.His1414Arg Single submitter ⚠
- p.His1561Arg Single submitter ⚠
- p.His1588Arg Single submitter ⚠
- p.His1655Arg Single submitter ⚠
- p.His1655Pro Single submitter ⚠
- p.His1662Asp Single submitter ⚠
- p.His337Gln Single submitter ⚠
- p.His62Arg Single submitter ⚠
- p.His732Asn Single submitter ⚠
- p.His732Tyr Single submitter ⚠
- p.His887Arg Single submitter ⚠
- p.Ile1061Thr Single submitter ⚠
- p.Ile1142Met Single submitter ⚠
- p.Ile1183Phe Single submitter ⚠
- p.Ile1373Val Single submitter ⚠
- p.Ile1376Thr Single submitter ⚠
- p.Ile1397Val Single submitter ⚠
- p.Ile1399Ser Single submitter ⚠
- p.Ile724Asn Single submitter ⚠
- p.Ile870Asn Single submitter ⚠
- p.Ile870Val Single submitter ARHGEF28-related disorder ⚠
- p.Leu1115His Single submitter ⚠
- p.Leu1117Phe Single submitter ⚠
- p.Leu1246Arg Single submitter ⚠
- p.Leu140Val Single submitter ⚠
- p.Leu1410Arg Single submitter ARHGEF28-related disorder ⚠
- p.Leu1504Pro Single submitter ⚠
- p.Leu157Pro Single submitter ⚠
- p.Leu1612Pro Single submitter Meniere disease ⚠
- p.Leu1637Arg Single submitter ⚠
- p.Leu1705His Single submitter ⚠
- p.Leu348Pro Single submitter ⚠
- p.Leu74Phe Single submitter ⚠
- p.Leu793Pro Single submitter ⚠
- p.Leu819Phe Single submitter ⚠
- p.Leu99Val Single submitter ⚠
- p.Lys1103Arg Single submitter
- p.Lys415_Thr417del Single submitter
- p.Lys605Asn Single submitter ⚠
- p.Met14Val Single submitter ⚠
- p.Met366Ile Single submitter ⚠
- p.Met446Thr Single submitter ⚠
- p.Met45Ile Single submitter ⚠
- p.Met84Arg Single submitter ⚠
- p.Met84Val Single submitter ⚠
- p.Met947Ile Single submitter ⚠
- p.Phe1565Leu Single submitter ⚠
- p.Phe445Ile Single submitter ⚠
- p.Phe625Leu Single submitter ⚠
- p.Phe907Leu Single submitter ⚠
- p.Pro1268Ser Single submitter ⚠
- p.Pro1584Thr Single submitter ⚠
- p.Pro1661Ser Single submitter ⚠
- p.Pro1683Leu Single submitter ⚠
- p.Pro1683Ser Single submitter ⚠
- p.Pro195Arg Single submitter ⚠
- p.Pro195Leu Single submitter ⚠
- p.Pro402Ala Single submitter ⚠
- p.Pro402Ser Single submitter ⚠
- p.Pro419Ser Single submitter ⚠
- p.Pro424Ser Single submitter ⚠
- p.Pro501Ala Single submitter ⚠
- p.Pro562Ala Single submitter ⚠
- p.Pro592Ala Single submitter ⚠
- p.Pro592Ser Single submitter ⚠
- p.Pro81Leu Single submitter ⚠
- p.Pro837His Single submitter ⚠
- p.Ser1082Asn Single submitter ⚠
- p.Ser1082Gly Single submitter ⚠
- p.Ser1082Thr Single submitter ⚠
- p.Ser1137Phe Single submitter
- p.Ser1303Asn Single submitter ⚠
- p.Ser1307Pro Single submitter ⚠
- p.Ser1337Leu Single submitter ⚠
- p.Ser1385Arg Single submitter ⚠
- p.Ser1385Gly Single submitter ⚠
- p.Ser1415Cys Single submitter ⚠
- p.Ser1481Leu Single submitter ⚠
- p.Ser1526Arg Single submitter ⚠
- p.Ser1538Asn Single submitter ⚠
- p.Ser1538Ile Single submitter ⚠
- p.Ser230Pro Single submitter ⚠
- p.Ser246Leu Single submitter ⚠
- p.Ser246Thr Single submitter ⚠
- p.Ser246Trp Single submitter ⚠
- p.Ser310Phe Single submitter ⚠
- p.Ser355Leu Single submitter ⚠
- p.Ser413Gly Single submitter ⚠
- p.Ser451Leu Single submitter ARHGEF28-related disorder ⚠
- p.Ser505Asn Single submitter ⚠
- p.Ser506Cys Single submitter ⚠
- p.Ser519Phe Single submitter ⚠
- p.Ser590Leu Single submitter ⚠
- p.Ser612Thr Single submitter ⚠
- p.Ser682Cys Single submitter ⚠
- p.Ser6Arg Single submitter ⚠
- p.Ser736Phe Single submitter ⚠
- p.Ser756Pro Single submitter ⚠
- p.Ser758Arg Single submitter ⚠
- p.Ser795Pro Single submitter ⚠
- p.Ser817Gly Single submitter ⚠
- p.Thr105Met Single submitter ⚠
- p.Thr1097Ala Single submitter ⚠
- p.Thr125Met Single submitter ⚠
- p.Thr1380Ala Single submitter ⚠
- p.Thr1592Ala Single submitter ⚠
- p.Thr1592Ile Single submitter ⚠
- p.Thr1596Ile Single submitter ⚠
- p.Thr1686Ser Single submitter ⚠
- p.Thr248Met Single submitter ⚠
- p.Thr250Ile Single submitter ⚠
- p.Thr256Ile Single submitter ⚠
- p.Thr292Arg Single submitter ⚠
- p.Thr397Ile Single submitter ⚠
- p.Thr436Ala Single submitter ⚠
- p.Thr500Ile Single submitter ⚠
- p.Thr522Ser Single submitter ⚠
- p.Thr67Ser Single submitter ⚠
- p.Trp225Cys Single submitter ⚠
- p.Tyr1704Asn Single submitter ⚠
- p.Tyr909Cys Single submitter ⚠
- p.Val1074Met Single submitter ⚠
- p.Val1129Ile Single submitter ⚠
- p.Val1129Leu Single submitter ⚠
- p.Val1212Glu Single submitter ⚠
- p.Val1252Ile Single submitter ⚠
- p.Val137Met Single submitter ⚠
- p.Val1603Gly Single submitter ⚠
- p.Val218Ala Single submitter ⚠
- p.Val811Ala Single submitter ⚠
- p.Val890Met Single submitter ⚠
- p.Val89Leu Single submitter ⚠
- c.957_963+16delinsCG No assertion criteria ARHGEF28-related disorder
- p.Ala238Thr No assertion criteria ARHGEF28-related disorder ⚠
- p.Ala484Thr No assertion criteria ARHGEF28-related disorder ⚠
- p.Cys1032Trp No assertion criteria ARHGEF28-related disorder ⚠
- p.Cys407Tyr No assertion criteria ⚠
- p.Gln1184His No assertion criteria ARHGEF28-related disorder
- p.Gln233Arg No assertion criteria ARHGEF28-related disorder ⚠
- p.Leu1493Val No assertion criteria ARHGEF28-related disorder ⚠
- p.Leu1705Phe No assertion criteria ARHGEF28-related disorder ⚠
- p.Phe703Val No assertion criteria ARHGEF28-related disorder ⚠
- p.Ser1082Arg No assertion criteria ARHGEF28-related disorder ⚠
- p.Ser228Ile No assertion criteria ARHGEF28-related disorder ⚠
- p.Thr125= No assertion criteria ARHGEF28-related disorder
- p.Trp273Cys No assertion criteria ARHGEF28-related disorder ⚠
- p.Tyr1384His No assertion criteria ARHGEF28-related disorder ⚠
- p.Tyr707His No assertion criteria ARHGEF28-related disorder ⚠
- p.Val92Met No assertion criteria ARHGEF28-related disorder ⚠