RAPGEF2 — 179 ClinVar variants
All ClinVar germline RAPGEF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 120 flagged for review →
13 Benign · 1 Benign/Likely benign · 36 Likely benign · 129 Uncertain significance
Full RAPGEF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 120
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 86
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- RAPGEF2 p.Arg1333Cys Uncertain significance Multiple submitters
- RAPGEF2 c.543+24380A>C Uncertain significance Single submitter
- RAPGEF2 c.543+24401A>C Uncertain significance Single submitter
- RAPGEF2 c.543+24419C>A Uncertain significance Single submitter
- RAPGEF2 p.Ala1189Thr Uncertain significance Single submitter
- RAPGEF2 p.Ala1403Ser Uncertain significance Single submitter
- RAPGEF2 p.Ala1488Val Uncertain significance Single submitter
- RAPGEF2 p.Ala1551Val Uncertain significance Single submitter
- RAPGEF2 p.Ala1600Thr Uncertain significance Single submitter
- RAPGEF2 p.Ala258Gly Uncertain significance Single submitter
- RAPGEF2 p.Ala537Thr Uncertain significance Single submitter
- RAPGEF2 p.Ala583Val Uncertain significance Single submitter
- RAPGEF2 p.Ala685Val Uncertain significance Single submitter
- RAPGEF2 p.Ala803Pro Uncertain significance Single submitter
- RAPGEF2 p.Arg1333Leu Uncertain significance Single submitter
- RAPGEF2 p.Arg1349Met Uncertain significance Single submitter
- RAPGEF2 p.Arg1397His Uncertain significance Single submitter
- RAPGEF2 p.Arg1484Gln Uncertain significance Single submitter
- RAPGEF2 p.Arg1552Gln Uncertain significance Single submitter
- RAPGEF2 p.Arg513Gly Uncertain significance Single submitter
- RAPGEF2 p.Arg554Gly Uncertain significance Single submitter
- RAPGEF2 p.Arg702Gln Uncertain significance Single submitter
- RAPGEF2 p.Asn1019Ser Uncertain significance Single submitter
- RAPGEF2 p.Asp1330Asn Uncertain significance Single submitter
- RAPGEF2 p.Asp1330Glu Uncertain significance Single submitter
- RAPGEF2 p.Asp1445His Uncertain significance Single submitter
- RAPGEF2 p.Asp1604Asn Uncertain significance Single submitter
- RAPGEF2 p.Gln1193Lys Uncertain significance Single submitter
- RAPGEF2 p.Gln286Arg Uncertain significance Single submitter
- RAPGEF2 p.Gln398Lys Uncertain significance Single submitter
- RAPGEF2 p.Glu1634Lys Uncertain significance Single submitter
- RAPGEF2 p.Glu935Gln Uncertain significance Single submitter
- RAPGEF2 p.Glu995Gly Uncertain significance Single submitter
- RAPGEF2 p.Gly1255Arg Uncertain significance Single submitter
- RAPGEF2 p.His1067Gln Uncertain significance Single submitter
- RAPGEF2 p.His1455Tyr Uncertain significance Single submitter
- RAPGEF2 p.His1464Arg Uncertain significance Single submitter
- RAPGEF2 p.His1464Tyr Uncertain significance Single submitter
- RAPGEF2 p.His1615Arg Uncertain significance Single submitter
- RAPGEF2 p.His732Tyr Uncertain significance Single submitter
- RAPGEF2 p.Ile1211Val Uncertain significance Single submitter
- RAPGEF2 p.Ile1340Val Uncertain significance Single submitter
- RAPGEF2 p.Ile1356Thr Uncertain significance Single submitter
- RAPGEF2 p.Ile1459Phe Uncertain significance Single submitter
- RAPGEF2 p.Ile1459Val Uncertain significance Single submitter
- RAPGEF2 p.Ile1550Thr Uncertain significance Single submitter
- RAPGEF2 p.Ile1568Thr Uncertain significance Single submitter
- RAPGEF2 p.Ile431Thr Uncertain significance Single submitter
- RAPGEF2 p.Ile714Thr Uncertain significance Single submitter
- RAPGEF2 p.Ile955Met Uncertain significance Single submitter
- RAPGEF2 p.Leu1363Phe Uncertain significance Single submitter
- RAPGEF2 p.Leu1549Val Uncertain significance Single submitter
- RAPGEF2 p.Leu563Arg Uncertain significance Single submitter
- RAPGEF2 p.Leu997Val Uncertain significance Single submitter
- RAPGEF2 p.Lys989Arg Uncertain significance Single submitter
- RAPGEF2 p.Met1081Leu Uncertain significance Single submitter
- RAPGEF2 p.Met1460Thr Uncertain significance Single submitter
- RAPGEF2 p.Met371Ile Uncertain significance Single submitter
- RAPGEF2 p.Met471Val Uncertain significance Single submitter
- RAPGEF2 p.Phe1440Leu Uncertain significance Single submitter
- RAPGEF2 p.Phe1575Leu Uncertain significance Single submitter
- RAPGEF2 p.Phe1647Cys Uncertain significance Single submitter
- RAPGEF2 p.Pro1206Ser Uncertain significance Single submitter
- RAPGEF2 p.Pro1282Ala Uncertain significance Single submitter
- RAPGEF2 p.Pro808Ala Uncertain significance Single submitter
- RAPGEF2 p.Ser1323Pro Uncertain significance Single submitter
- RAPGEF2 p.Ser1454Arg Uncertain significance Single submitter
- RAPGEF2 p.Ser1609Pro Uncertain significance Single submitter
- RAPGEF2 p.Ser204Tyr Uncertain significance Single submitter
- RAPGEF2 p.Ser553Thr Uncertain significance Single submitter
- RAPGEF2 p.Thr1100Ala Uncertain significance Single submitter
- RAPGEF2 p.Thr1100Ile Uncertain significance Single submitter
- RAPGEF2 p.Thr1280Pro Uncertain significance Single submitter
- RAPGEF2 p.Thr1423Met Uncertain significance Single submitter
- RAPGEF2 p.Thr1523Met Uncertain significance Single submitter
- RAPGEF2 p.Thr1546Ile Uncertain significance Single submitter
- RAPGEF2 p.Thr192Ala Uncertain significance Single submitter
- RAPGEF2 p.Thr584Ala Uncertain significance Single submitter
- RAPGEF2 p.Thr735Pro Uncertain significance Single submitter
- RAPGEF2 p.Tyr1366Cys Uncertain significance Single submitter
- RAPGEF2 p.Tyr1376Cys Uncertain significance Single submitter
- RAPGEF2 p.Tyr346Asp Uncertain significance Single submitter
- RAPGEF2 p.Val1068Ile Uncertain significance Single submitter
- RAPGEF2 p.Val1231Ile Uncertain significance Single submitter
- RAPGEF2 p.Val1338Ile Uncertain significance Single submitter
- RAPGEF2 p.Val1381Ala Uncertain significance Single submitter
Predictors split 34
The independent predictors disagree with each other — read with care.
- RAPGEF2 c.543+24368A>G Uncertain significance Single submitter
-
RAPGEF2 p.Ala1659Thr
Uncertain significance
Single submitter
epilepsy, familial adult myoclonic, 7
- RAPGEF2 p.Ala540Thr Uncertain significance Single submitter
- RAPGEF2 p.Ala933Thr Uncertain significance Single submitter
- RAPGEF2 p.Arg1259Cys Uncertain significance Single submitter
- RAPGEF2 p.Arg1508Ser Uncertain significance Single submitter
- RAPGEF2 p.Arg394Cys Uncertain significance Single submitter
- RAPGEF2 p.Arg394His Uncertain significance Single submitter
- RAPGEF2 p.Asn604Lys Uncertain significance Single submitter
- RAPGEF2 p.Asp1000Gly Uncertain significance Single submitter
- RAPGEF2 p.Asp665His Uncertain significance Single submitter
-
RAPGEF2 p.Cys962Tyr
Uncertain significance
Single submitter
epilepsy, familial adult myoclonic, 7
- RAPGEF2 p.Gln769His Uncertain significance Single submitter
- RAPGEF2 p.Glu1308Lys Uncertain significance Single submitter
-
RAPGEF2 p.Glu273Asp
Uncertain significance
Single submitter
epilepsy, familial adult myoclonic, 7
- RAPGEF2 p.His648Asn Uncertain significance Single submitter
- RAPGEF2 p.Ile1248Asn Uncertain significance Single submitter
- RAPGEF2 p.Leu706Phe Uncertain significance Single submitter
- RAPGEF2 p.Lys1013Gln Uncertain significance Single submitter
- RAPGEF2 p.Lys568Asn Uncertain significance Single submitter
- RAPGEF2 p.Met366Thr Uncertain significance Single submitter
- RAPGEF2 p.Pro1078Leu Uncertain significance Single submitter
- RAPGEF2 p.Pro1235Ser Uncertain significance Single submitter
- RAPGEF2 p.Pro664Ser Uncertain significance Single submitter
- RAPGEF2 p.Pro707Ser Uncertain significance Single submitter
- RAPGEF2 p.Pro979Ser Uncertain significance Single submitter
- RAPGEF2 p.Ser341Cys Uncertain significance Single submitter
- RAPGEF2 p.Ser469Gly Uncertain significance Single submitter
- RAPGEF2 p.Thr1411Met Uncertain significance Single submitter
- RAPGEF2 p.Thr365Ala Uncertain significance Single submitter
- RAPGEF2 p.Thr465Ser Uncertain significance Single submitter
- RAPGEF2 p.Tyr224Cys Uncertain significance Single submitter
- RAPGEF2 p.Val597Ile Uncertain significance Single submitter
- RAPGEF2 p.Val624Met Uncertain significance Single submitter
All RAPGEF2 variants
Benign 13
- c.282-12C>A Multiple submitters epilepsy, familial adult myoclonic, 7
- c.3503-5A>G Multiple submitters
- c.854-10T>C Multiple submitters
- p.Asn976= Multiple submitters
- p.Ile536= Multiple submitters
- p.Pro1641= Multiple submitters epilepsy, familial adult myoclonic, 7
- p.Thr1291= Multiple submitters
- c.1303-68TG[16] Single submitter epilepsy, familial adult myoclonic, 7
- c.1303-68TG[17] Single submitter epilepsy, familial adult myoclonic, 7
- c.358-129T>C Single submitter
- c.3713-10del Single submitter epilepsy, familial adult myoclonic, 7
- p.Asp504= Single submitter
- p.Pro1586= Single submitter
Benign/Likely benign 1
- p.Pro197= Multiple submitters
Likely benign 36
- p.Ala1219= Multiple submitters
- p.Ser1273= Multiple submitters
- p.Thr1523= Multiple submitters
- c.1575+21dup Single submitter
- c.2293+20C>T Single submitter
- c.281+11G>A Single submitter
- c.3713-16T>C Single submitter
- c.3866-19G>A Single submitter
- c.4957+18T>A Single submitter
- c.543+24397A>C Single submitter
- c.676-17TG[6] Single submitter
- c.70-19A>T Single submitter
- c.854-18A>G Single submitter
- p.Ala1264= Single submitter
- p.Ala1264Thr Single submitter
- p.Arg702= Single submitter
- p.Asn1420= Single submitter
- p.Asn917= Single submitter
- p.Gln810= Single submitter
- p.Glu1634= Single submitter
- p.Gly1296= Single submitter
- p.His1067= Single submitter
- p.Ile1568Val Single submitter
- p.Leu1433= Single submitter
- p.Leu294= Single submitter
- p.Leu354= Single submitter
- p.Leu478= Single submitter
- p.Lys372= Single submitter
- p.Pro1218= Single submitter
- p.Pro1434= Single submitter
- p.Pro1564= Single submitter
- p.Ser1310= Single submitter
- p.Ser1370= Single submitter
- p.Ser973= Single submitter
- p.Thr1649Ala Single submitter
- p.Tyr162= Single submitter
Uncertain significance 129
- p.Arg1333Cys Multiple submitters ⚠
- c.4958-8A>G Single submitter epilepsy, familial adult myoclonic, 7
- c.543+24368A>G Single submitter ⚠
- c.543+24380A>C Single submitter ⚠
- c.543+24401A>C Single submitter ⚠
- c.543+24419C>A Single submitter ⚠
- c.675+2T>C Single submitter RAPGEF2-associated neurodevelopmental disorder
- p.Ala1189Thr Single submitter ⚠
- p.Ala1403Ser Single submitter ⚠
- p.Ala1488Val Single submitter ⚠
- p.Ala1551Val Single submitter ⚠
- p.Ala1600Thr Single submitter ⚠
- p.Ala1659Thr Single submitter epilepsy, familial adult myoclonic, 7 ⚠
- p.Ala258Gly Single submitter ⚠
- p.Ala537Thr Single submitter ⚠
- p.Ala540Thr Single submitter ⚠
- p.Ala583Val Single submitter ⚠
- p.Ala685Val Single submitter ⚠
- p.Ala803Pro Single submitter ⚠
- p.Ala933Thr Single submitter ⚠
- p.Arg1259Cys Single submitter ⚠
- p.Arg1333Leu Single submitter ⚠
- p.Arg1349Met Single submitter ⚠
- p.Arg1397His Single submitter ⚠
- p.Arg1484Gln Single submitter ⚠
- p.Arg1508Ser Single submitter ⚠
- p.Arg1552Gln Single submitter ⚠
- p.Arg394Cys Single submitter ⚠
- p.Arg394His Single submitter ⚠
- p.Arg513Gly Single submitter ⚠
- p.Arg554Gly Single submitter ⚠
- p.Arg702Gln Single submitter ⚠
- p.Asn1019Ser Single submitter ⚠
- p.Asn604Lys Single submitter ⚠
- p.Asp1000Gly Single submitter ⚠
- p.Asp1330Asn Single submitter ⚠
- p.Asp1330Glu Single submitter ⚠
- p.Asp1445His Single submitter ⚠
- p.Asp1604Asn Single submitter ⚠
- p.Asp483His Single submitter
- p.Asp665His Single submitter ⚠
- p.Cys962Tyr Single submitter epilepsy, familial adult myoclonic, 7 ⚠
- p.Gln1193Lys Single submitter ⚠
- p.Gln1394fs Single submitter
- p.Gln286Arg Single submitter ⚠
- p.Gln398Lys Single submitter ⚠
- p.Gln769His Single submitter ⚠
- p.Glu1308Lys Single submitter ⚠
- p.Glu1634Lys Single submitter ⚠
- p.Glu273Asp Single submitter epilepsy, familial adult myoclonic, 7 ⚠
- p.Glu935Gln Single submitter ⚠
- p.Glu995Gly Single submitter ⚠
- p.Gly1098Val Single submitter
- p.Gly1255Arg Single submitter ⚠
- p.Gly587= Single submitter epilepsy, familial adult myoclonic, 7
- p.His1067Gln Single submitter ⚠
- p.His1455Tyr Single submitter ⚠
- p.His1464Arg Single submitter ⚠
- p.His1464Tyr Single submitter ⚠
- p.His1615Arg Single submitter ⚠
- p.His648Asn Single submitter ⚠
- p.His732Tyr Single submitter ⚠
- p.Ile1211Val Single submitter ⚠
- p.Ile1248Asn Single submitter ⚠
- p.Ile1340Val Single submitter ⚠
- p.Ile1356Thr Single submitter ⚠
- p.Ile1459Phe Single submitter ⚠
- p.Ile1459Val Single submitter ⚠
- p.Ile1550Thr Single submitter ⚠
- p.Ile1568Thr Single submitter ⚠
- p.Ile431Thr Single submitter ⚠
- p.Ile456Thr Single submitter
- p.Ile714Thr Single submitter ⚠
- p.Ile955Met Single submitter ⚠
- p.Leu1363Phe Single submitter ⚠
- p.Leu1549Val Single submitter ⚠
- p.Leu563Arg Single submitter ⚠
- p.Leu706Phe Single submitter ⚠
- p.Leu997Val Single submitter ⚠
- p.Lys1013Gln Single submitter ⚠
- p.Lys568Asn Single submitter ⚠
- p.Lys989Arg Single submitter ⚠
- p.Met1081Leu Single submitter ⚠
- p.Met1460Thr Single submitter ⚠
- p.Met366Thr Single submitter ⚠
- p.Met371Ile Single submitter ⚠
- p.Met471Val Single submitter ⚠
- p.Phe1440Leu Single submitter ⚠
- p.Phe1575Leu Single submitter ⚠
- p.Phe1647Cys Single submitter ⚠
- p.Pro1078Leu Single submitter ⚠
- p.Pro1206Ser Single submitter ⚠
- p.Pro1235Ser Single submitter ⚠
- p.Pro1282Ala Single submitter ⚠
- p.Pro664Ser Single submitter ⚠
- p.Pro707Ser Single submitter ⚠
- p.Pro808Ala Single submitter ⚠
- p.Pro979Ser Single submitter ⚠
- p.Ser1323Pro Single submitter ⚠
- p.Ser1454Arg Single submitter ⚠
- p.Ser1609Pro Single submitter ⚠
- p.Ser204Tyr Single submitter ⚠
- p.Ser333fs Single submitter
- p.Ser341Cys Single submitter ⚠
- p.Ser469Gly Single submitter ⚠
- p.Ser553Thr Single submitter ⚠
- p.Thr1100Ala Single submitter ⚠
- p.Thr1100Ile Single submitter ⚠
- p.Thr1280Pro Single submitter ⚠
- p.Thr1411Met Single submitter ⚠
- p.Thr1423Met Single submitter ⚠
- p.Thr1523Met Single submitter ⚠
- p.Thr1546Ile Single submitter ⚠
- p.Thr192Ala Single submitter ⚠
- p.Thr365Ala Single submitter ⚠
- p.Thr465Ser Single submitter ⚠
- p.Thr584Ala Single submitter ⚠
- p.Thr735Pro Single submitter ⚠
- p.Tyr1366Cys Single submitter ⚠
- p.Tyr1376Cys Single submitter ⚠
- p.Tyr224Cys Single submitter ⚠
- p.Tyr346Asp Single submitter ⚠
- p.Val1068Ile Single submitter ⚠
- p.Val1231Ile Single submitter ⚠
- p.Val1338Ile Single submitter ⚠
- p.Val1381Ala Single submitter ⚠
- p.Val313Arg Single submitter
- p.Val597Ile Single submitter ⚠
- p.Val624Met Single submitter ⚠