RALGAPB — 153 ClinVar variants
All ClinVar germline RALGAPB variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 129 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 12 Benign · 3 Likely benign · 136 Uncertain significance
Full RALGAPB gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 129
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 91
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RALGAPB p.Asp736Asn Uncertain significance Multiple submitters
- RALGAPB p.Ala1067Thr Uncertain significance Single submitter
- RALGAPB p.Ala1257Asp Uncertain significance Single submitter
- RALGAPB p.Ala243Gly Uncertain significance Single submitter
- RALGAPB p.Ala394Thr Uncertain significance Single submitter
- RALGAPB p.Ala912Thr Uncertain significance Single submitter
- RALGAPB p.Ala957Val Uncertain significance Single submitter
- RALGAPB p.Arg1087Ile Uncertain significance Single submitter
- RALGAPB p.Arg1087Lys Uncertain significance Single submitter
- RALGAPB p.Arg1332His Uncertain significance Single submitter
- RALGAPB p.Arg1350His Uncertain significance Single submitter
- RALGAPB p.Arg1435Ser Uncertain significance Single submitter
-
RALGAPB p.Arg153Cys
Uncertain significance
Single submitter
Marfanoid habitus and intellectual disability
- RALGAPB p.Arg153His Uncertain significance Single submitter
- RALGAPB p.Arg160Gln Uncertain significance Single submitter
- RALGAPB p.Arg209Gln Uncertain significance Single submitter
- RALGAPB p.Arg250His Uncertain significance Single submitter
- RALGAPB p.Arg356Gln Uncertain significance Single submitter
- RALGAPB p.Arg436Gly Uncertain significance Single submitter
- RALGAPB p.Arg483Gln Uncertain significance Single submitter
- RALGAPB p.Arg611Gln Uncertain significance Single submitter
- RALGAPB p.Arg803Gln Uncertain significance Single submitter
- RALGAPB p.Arg820Trp Uncertain significance Single submitter
- RALGAPB p.Arg946Trp Uncertain significance Single submitter
- RALGAPB p.Asn1279Asp Uncertain significance Single submitter
- RALGAPB p.Asn1288Ser Uncertain significance Single submitter
- RALGAPB p.Asn719Ser Uncertain significance Single submitter
- RALGAPB p.Asp1095Val Uncertain significance Single submitter
- RALGAPB p.Cys1492Arg Uncertain significance Single submitter
- RALGAPB p.Gln1176His Uncertain significance Single submitter
- RALGAPB p.Gln13Glu Uncertain significance Single submitter
- RALGAPB p.Gln776Arg Uncertain significance Single submitter
- RALGAPB p.Gln989Glu Uncertain significance Single submitter
- RALGAPB p.Glu1060Lys Uncertain significance Single submitter
- RALGAPB p.Glu1233Val Uncertain significance Single submitter
- RALGAPB p.Glu310Gln Uncertain significance Single submitter
- RALGAPB p.Glu481Val Uncertain significance Single submitter
- RALGAPB p.Gly186Cys Uncertain significance Single submitter
- RALGAPB p.Gly867Ser Uncertain significance Single submitter
- RALGAPB p.His405Tyr Uncertain significance Single submitter
- RALGAPB p.His411Tyr Uncertain significance Single submitter
- RALGAPB p.His458Gln Uncertain significance Single submitter
- RALGAPB p.Ile104Val Uncertain significance Single submitter
- RALGAPB p.Ile1050Leu Uncertain significance Single submitter
- RALGAPB p.Ile109Thr Uncertain significance Single submitter
- RALGAPB p.Ile176Met Uncertain significance Single submitter
- RALGAPB p.Ile533Val Uncertain significance Single submitter
- RALGAPB p.Leu1123Arg Uncertain significance Single submitter
- RALGAPB p.Leu126Val Uncertain significance Single submitter
- RALGAPB p.Leu1385Ile Uncertain significance Single submitter
- RALGAPB p.Leu1419Phe Uncertain significance Single submitter
- RALGAPB p.Leu446Pro Uncertain significance Single submitter
- RALGAPB p.Leu959Pro Uncertain significance Single submitter
- RALGAPB p.Lys194Arg Uncertain significance Single submitter
- RALGAPB p.Met1289Val Uncertain significance Single submitter
- RALGAPB p.Met1415Val Uncertain significance Single submitter
- RALGAPB p.Met289Val Uncertain significance Single submitter
- RALGAPB p.Met703Val Uncertain significance Single submitter
- RALGAPB p.Met958Val Uncertain significance Single submitter
- RALGAPB p.Phe1263Ser Uncertain significance Single submitter
- RALGAPB p.Phe945Cys Uncertain significance Single submitter
- RALGAPB p.Pro1027Ala Uncertain significance Single submitter
- RALGAPB p.Pro1293Leu Uncertain significance Single submitter
- RALGAPB p.Pro129Leu Uncertain significance Single submitter
- RALGAPB p.Pro355Thr Uncertain significance Single submitter
- RALGAPB p.Pro740Thr Uncertain significance Single submitter
- RALGAPB p.Ser1022Ala Uncertain significance Single submitter
- RALGAPB p.Ser1236Pro Uncertain significance Single submitter
- RALGAPB p.Ser1275Leu Uncertain significance Single submitter
- RALGAPB p.Ser1367Thr Uncertain significance Single submitter
- RALGAPB p.Ser1382Ala Uncertain significance Single submitter
- RALGAPB p.Ser1494Tyr Uncertain significance Single submitter
- RALGAPB p.Ser28Gly Uncertain significance Single submitter
- RALGAPB p.Ser420Pro Uncertain significance Single submitter
- RALGAPB p.Thr1383Ile Uncertain significance Single submitter
- RALGAPB p.Thr182Ala Uncertain significance Single submitter
- RALGAPB p.Thr208Ser Uncertain significance Single submitter
- RALGAPB p.Thr491Ala Uncertain significance Single submitter
- RALGAPB p.Thr930Ala Uncertain significance Single submitter
- RALGAPB p.Tyr554Cys Uncertain significance Single submitter
- RALGAPB p.Val1182Ala Uncertain significance Single submitter
- RALGAPB p.Val165Ile Uncertain significance Single submitter
- RALGAPB p.Val183Ala Uncertain significance Single submitter
- RALGAPB p.Val183Ile Uncertain significance Single submitter
- RALGAPB p.Val365Met Uncertain significance Single submitter
- RALGAPB p.Val376Leu Uncertain significance Single submitter
- RALGAPB p.Val37Ile Uncertain significance Single submitter
- RALGAPB p.Val766Ile Uncertain significance Single submitter
- RALGAPB p.Val87Ala Uncertain significance Single submitter
- RALGAPB p.Val880Phe Uncertain significance Single submitter
-
RALGAPB p.Lys84Arg
Uncertain significance
No assertion criteria
RALGAPB-related disorder
Predictors split 38
The independent predictors disagree with each other — read with care.
- RALGAPB p.Arg1109His Uncertain significance Single submitter
- RALGAPB p.Arg1130Cys Uncertain significance Single submitter
- RALGAPB p.Arg1428Pro Uncertain significance Single submitter
- RALGAPB p.Arg250Cys Uncertain significance Single submitter
- RALGAPB p.Arg384Gln Uncertain significance Single submitter
- RALGAPB p.Arg384Trp Uncertain significance Single submitter
- RALGAPB p.Arg761His Uncertain significance Single submitter
-
RALGAPB p.Arg775Leu
Likely pathogenic
Single submitter
septooptic dysplasia
- RALGAPB p.Arg803Trp Uncertain significance Single submitter
-
RALGAPB p.Arg820Gln
Uncertain significance
Single submitter
neurodevelopmental disorder
- RALGAPB p.Asp1147Tyr Uncertain significance Single submitter
- RALGAPB p.Cys517Gly Uncertain significance Single submitter
- RALGAPB p.Glu1125Lys Uncertain significance Single submitter
- RALGAPB p.Glu597Lys Uncertain significance Single submitter
- RALGAPB p.Gly911Asp Uncertain significance Single submitter
- RALGAPB p.His1059Gln Uncertain significance Single submitter
-
RALGAPB p.Ile1178Val
Uncertain significance
Single submitter
neurodevelopmental disorder
- RALGAPB p.Ile1417Leu Uncertain significance Single submitter
- RALGAPB p.Ile302Thr Uncertain significance Single submitter
- RALGAPB p.Ile533Leu Uncertain significance Single submitter
-
RALGAPB p.Leu1155Ser
Uncertain significance
Single submitter
complex neurodevelopmental disorder
- RALGAPB p.Leu328Phe Uncertain significance Single submitter
- RALGAPB p.Leu696Ser Uncertain significance Single submitter
- RALGAPB p.Met67Leu Uncertain significance Single submitter
- RALGAPB p.Phe1146Leu Uncertain significance Single submitter
- RALGAPB p.Phe585Leu Uncertain significance Single submitter
- RALGAPB p.Pro1307Arg Uncertain significance Single submitter
- RALGAPB p.Pro1307Leu Uncertain significance Single submitter
-
RALGAPB p.Pro271Ala
Uncertain significance
Single submitter
RALGAPB-related disorder
- RALGAPB p.Pro381Gln Uncertain significance Single submitter
- RALGAPB p.Pro438Ala Uncertain significance Single submitter
-
RALGAPB p.Pro914Ser
Likely benign
Single submitter
Developmental disorder
- RALGAPB p.Thr1174Met Uncertain significance Single submitter
- RALGAPB p.Thr672Ala Uncertain significance Single submitter
- RALGAPB p.Thr674Met Uncertain significance Single submitter
- RALGAPB p.Tyr1151Cys Uncertain significance Single submitter
- RALGAPB p.Tyr1167Phe Uncertain significance Single submitter
- RALGAPB p.Val1434Leu Uncertain significance Single submitter
All RALGAPB variants
Pathogenic 1
- c.4142+1G>A Single submitter intellectual disability
Likely pathogenic 1
- p.Arg775Leu Single submitter septooptic dysplasia ⚠
Benign 12
- p.Glu1365= Multiple submitters
- c.554-10T>C No assertion criteria RALGAPB-related disorder
- p.Ala998= No assertion criteria RALGAPB-related disorder
- p.Asn276His No assertion criteria RALGAPB-related disorder
- p.Asp1284= No assertion criteria RALGAPB-related disorder
- p.Glu428= No assertion criteria RALGAPB-related disorder
- p.His1191Tyr No assertion criteria RALGAPB-related disorder
- p.Pro1321Leu No assertion criteria RALGAPB-related disorder
- p.Pro1336Ser No assertion criteria RALGAPB-related disorder
- p.Ser1453= No assertion criteria RALGAPB-related disorder
- p.Thr730Met No assertion criteria RALGAPB-related disorder
- p.Val810= No assertion criteria RALGAPB-related disorder
Likely benign 3
- p.Asn876Ser Single submitter
- p.Pro914Ser Single submitter Developmental disorder ⚠
- c.4292-15CT[2] No assertion criteria RALGAPB-related disorder
Uncertain significance 136
- p.Asp736Asn Multiple submitters ⚠
- c.3520_3531+22del Single submitter
- p.Ala1067Thr Single submitter ⚠
- p.Ala1257Asp Single submitter ⚠
- p.Ala1429Val Single submitter
- p.Ala243Gly Single submitter ⚠
- p.Ala394Thr Single submitter ⚠
- p.Ala912Thr Single submitter ⚠
- p.Ala957Val Single submitter ⚠
- p.Arg1087Ile Single submitter ⚠
- p.Arg1087Lys Single submitter ⚠
- p.Arg1109His Single submitter ⚠
- p.Arg1130Cys Single submitter ⚠
- p.Arg1332His Single submitter ⚠
- p.Arg1350His Single submitter ⚠
- p.Arg1428Pro Single submitter ⚠
- p.Arg1435Ser Single submitter ⚠
- p.Arg153Cys Single submitter Marfanoid habitus and intellectual disability ⚠
- p.Arg153His Single submitter ⚠
- p.Arg160Gln Single submitter ⚠
- p.Arg209Gln Single submitter ⚠
- p.Arg250Cys Single submitter ⚠
- p.Arg250His Single submitter ⚠
- p.Arg356Gln Single submitter ⚠
- p.Arg384Gln Single submitter ⚠
- p.Arg384Trp Single submitter ⚠
- p.Arg436Gly Single submitter ⚠
- p.Arg483Gln Single submitter ⚠
- p.Arg483Ter Single submitter
- p.Arg611Gln Single submitter ⚠
- p.Arg611Ter Single submitter
- p.Arg761His Single submitter ⚠
- p.Arg803Gln Single submitter ⚠
- p.Arg803Trp Single submitter ⚠
- p.Arg820Gln Single submitter neurodevelopmental disorder ⚠
- p.Arg820Trp Single submitter ⚠
- p.Arg946Trp Single submitter ⚠
- p.Asn1279Asp Single submitter ⚠
- p.Asn1288Ser Single submitter ⚠
- p.Asn719Ser Single submitter ⚠
- p.Asp1095Val Single submitter ⚠
- p.Asp1147Tyr Single submitter ⚠
- p.Cys1492Arg Single submitter ⚠
- p.Cys517Gly Single submitter ⚠
- p.Gln1176His Single submitter ⚠
- p.Gln13Glu Single submitter ⚠
- p.Gln776Arg Single submitter ⚠
- p.Gln989Glu Single submitter ⚠
- p.Glu1060Lys Single submitter ⚠
- p.Glu1125Lys Single submitter ⚠
- p.Glu1233Val Single submitter ⚠
- p.Glu310Gln Single submitter ⚠
- p.Glu481Val Single submitter ⚠
- p.Glu597Lys Single submitter ⚠
- p.Gly1018Ala Single submitter
- p.Gly186Cys Single submitter ⚠
- p.Gly867Ser Single submitter ⚠
- p.Gly911Asp Single submitter ⚠
- p.His1059Gln Single submitter ⚠
- p.His405Tyr Single submitter ⚠
- p.His411Tyr Single submitter ⚠
- p.His458Gln Single submitter ⚠
- p.Ile104Val Single submitter ⚠
- p.Ile1050Leu Single submitter ⚠
- p.Ile109Thr Single submitter ⚠
- p.Ile1178Val Single submitter neurodevelopmental disorder ⚠
- p.Ile1417Leu Single submitter ⚠
- p.Ile176Met Single submitter ⚠
- p.Ile302Thr Single submitter ⚠
- p.Ile533Leu Single submitter ⚠
- p.Ile533Val Single submitter ⚠
- p.Leu1123Arg Single submitter ⚠
- p.Leu1155Ser Single submitter complex neurodevelopmental disorder ⚠
- p.Leu126Val Single submitter ⚠
- p.Leu1385Ile Single submitter ⚠
- p.Leu1419Phe Single submitter ⚠
- p.Leu170Val Single submitter
- p.Leu328Phe Single submitter ⚠
- p.Leu446Pro Single submitter ⚠
- p.Leu696Ser Single submitter ⚠
- p.Leu959Pro Single submitter ⚠
- p.Lys194Arg Single submitter ⚠
- p.Met1289Val Single submitter ⚠
- p.Met1415Val Single submitter ⚠
- p.Met289Val Single submitter ⚠
- p.Met67Leu Single submitter ⚠
- p.Met703Val Single submitter ⚠
- p.Met958Val Single submitter ⚠
- p.Phe1146Leu Single submitter ⚠
- p.Phe1263Ser Single submitter ⚠
- p.Phe585Leu Single submitter ⚠
- p.Phe945Cys Single submitter ⚠
- p.Pro1027Ala Single submitter ⚠
- p.Pro1293Leu Single submitter ⚠
- p.Pro129Leu Single submitter ⚠
- p.Pro1307Arg Single submitter ⚠
- p.Pro1307Leu Single submitter ⚠
- p.Pro26Ser Single submitter
- p.Pro271Ala Single submitter RALGAPB-related disorder ⚠
- p.Pro355Thr Single submitter ⚠
- p.Pro381Gln Single submitter ⚠
- p.Pro438Ala Single submitter ⚠
- p.Pro740Thr Single submitter ⚠
- p.Ser1022Ala Single submitter ⚠
- p.Ser1236Pro Single submitter ⚠
- p.Ser1275Leu Single submitter ⚠
- p.Ser1367Thr Single submitter ⚠
- p.Ser1382Ala Single submitter ⚠
- p.Ser1494Tyr Single submitter ⚠
- p.Ser28Gly Single submitter ⚠
- p.Ser420Pro Single submitter ⚠
- p.Thr1174Met Single submitter ⚠
- p.Thr1383Ile Single submitter ⚠
- p.Thr182Ala Single submitter ⚠
- p.Thr208Ser Single submitter ⚠
- p.Thr491Ala Single submitter ⚠
- p.Thr672Ala Single submitter ⚠
- p.Thr674Met Single submitter ⚠
- p.Thr930Ala Single submitter ⚠
- p.Tyr1151Cys Single submitter ⚠
- p.Tyr1167Phe Single submitter ⚠
- p.Tyr554Cys Single submitter ⚠
- p.Val1023Leu Single submitter
- p.Val1182Ala Single submitter ⚠
- p.Val1434Leu Single submitter ⚠
- p.Val165Ile Single submitter ⚠
- p.Val183Ala Single submitter ⚠
- p.Val183Ile Single submitter ⚠
- p.Val234= Single submitter RALGAPB-related disorder
- p.Val365Met Single submitter ⚠
- p.Val376Leu Single submitter ⚠
- p.Val37Ile Single submitter ⚠
- p.Val766Ile Single submitter ⚠
- p.Val87Ala Single submitter ⚠
- p.Val880Phe Single submitter ⚠
- p.Lys84Arg No assertion criteria RALGAPB-related disorder ⚠