EIF4G1 — 250 ClinVar variants
All ClinVar germline EIF4G1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 177 flagged for review →
32 Benign · 6 Benign/Likely benign · 37 Likely benign · 175 Uncertain significance
Full EIF4G1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 177
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 89
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
EIF4G1 p.Glu339Gln
Uncertain significance
Multiple submitters
Parkinson disease 18, autosomal dominant, susceptibility to
- EIF4G1 p.Glu870Ala Uncertain significance Multiple submitters
-
EIF4G1 p.Leu1275His
Uncertain significance
Multiple submitters
Parkinson disease 18, autosomal dominant, susceptibility to
- EIF4G1 p.Thr834Ala Uncertain significance Multiple submitters
- EIF4G1 p.Ala1112Val Uncertain significance Single submitter
- EIF4G1 p.Ala1116Gly Uncertain significance Single submitter
- EIF4G1 p.Ala1154Val Uncertain significance Single submitter
- EIF4G1 p.Ala1225Gly Uncertain significance Single submitter
- EIF4G1 p.Ala1235Val Uncertain significance Single submitter
-
EIF4G1 p.Ala1236Val
Uncertain significance
Single submitter
Parkinson disease 18, autosomal dominant, susceptibility to
- EIF4G1 p.Ala1291Ser Uncertain significance Single submitter
- EIF4G1 p.Ala1293Pro Uncertain significance Single submitter
-
EIF4G1 p.Ala159Ser
Uncertain significance
Single submitter
EIF4G1-related disorder
- EIF4G1 p.Ala219Gly Uncertain significance Single submitter
- EIF4G1 p.Ala22Pro Uncertain significance Single submitter
- EIF4G1 p.Ala281Thr Uncertain significance Single submitter
- EIF4G1 p.Ala407Thr Uncertain significance Single submitter
- EIF4G1 p.Ala493Asp Uncertain significance Single submitter
- EIF4G1 p.Ala493Gly Uncertain significance Single submitter
- EIF4G1 p.Ala537Thr Uncertain significance Single submitter
- EIF4G1 p.Ala570Val Uncertain significance Single submitter
- EIF4G1 p.Ala63Thr Uncertain significance Single submitter
- EIF4G1 p.Ala752Val Uncertain significance Single submitter
- EIF4G1 p.Arg1367Thr Uncertain significance Single submitter
- EIF4G1 p.Arg244Gly Uncertain significance Single submitter
- EIF4G1 p.Arg312His Uncertain significance Single submitter
- EIF4G1 p.Arg611Cys Uncertain significance Single submitter
- EIF4G1 p.Arg713Cys Uncertain significance Single submitter
- EIF4G1 p.Arg713His Uncertain significance Single submitter
- EIF4G1 p.Arg893Leu Uncertain significance Single submitter
-
EIF4G1 p.Asn553Asp
Uncertain significance
Single submitter
Parkinson disease 18, autosomal dominant, susceptibility to
- EIF4G1 p.Asn583Ser Uncertain significance Single submitter
- EIF4G1 p.Asp599Gly Uncertain significance Single submitter
- EIF4G1 p.Asp642Glu Uncertain significance Single submitter
- EIF4G1 p.Cys1516Phe Uncertain significance Single submitter
- EIF4G1 p.Gln1349Arg Uncertain significance Single submitter
- EIF4G1 p.Gln592Lys Uncertain significance Single submitter
- EIF4G1 p.Glu1111Asp Uncertain significance Single submitter
- EIF4G1 p.Glu585Ala Uncertain significance Single submitter
- EIF4G1 p.Gly748Glu Uncertain significance Single submitter
- EIF4G1 p.His252Arg Uncertain significance Single submitter
- EIF4G1 p.Ile1018Met Uncertain significance Single submitter
- EIF4G1 p.Ile1249Val Uncertain significance Single submitter
- EIF4G1 p.Ile1362Met Uncertain significance Single submitter
- EIF4G1 p.Ile725Val Uncertain significance Single submitter
- EIF4G1 p.Ile798Thr Uncertain significance Single submitter
- EIF4G1 p.Ile942Thr Uncertain significance Single submitter
- EIF4G1 p.Leu1044Val Uncertain significance Single submitter
- EIF4G1 p.Leu1161Pro Uncertain significance Single submitter
- EIF4G1 p.Leu1204Pro Uncertain significance Single submitter
- EIF4G1 p.Leu313Pro Uncertain significance Single submitter
- EIF4G1 p.Leu380Pro Uncertain significance Single submitter
- EIF4G1 p.Leu531Met Uncertain significance Single submitter
- EIF4G1 p.Leu604Val Uncertain significance Single submitter
- EIF4G1 p.Leu678Val Uncertain significance Single submitter
- EIF4G1 p.Lys1452Glu Uncertain significance Single submitter
- EIF4G1 p.Lys739Gln Uncertain significance Single submitter
-
EIF4G1 p.Met1259Leu
Uncertain significance
Single submitter
Parkinson disease 18, autosomal dominant, susceptibility to
- EIF4G1 p.Met165Ile Uncertain significance Single submitter
- EIF4G1 p.Met955Val Uncertain significance Single submitter
- EIF4G1 p.Pro1105Thr Uncertain significance Single submitter
- EIF4G1 p.Pro1201Arg Uncertain significance Single submitter
- EIF4G1 p.Pro135Ala Uncertain significance Single submitter
- EIF4G1 p.Pro209Thr Uncertain significance Single submitter
- EIF4G1 p.Pro245Ser Uncertain significance Single submitter
- EIF4G1 p.Pro384Leu Uncertain significance Single submitter
- EIF4G1 p.Pro384Thr Uncertain significance Single submitter
- EIF4G1 p.Pro451Gln Uncertain significance Single submitter
- EIF4G1 p.Pro565Leu Uncertain significance Single submitter
- EIF4G1 p.Pro58Ser Uncertain significance Single submitter
- EIF4G1 p.Ser1581Cys Uncertain significance Single submitter
- EIF4G1 p.Ser376Pro Uncertain significance Single submitter
- EIF4G1 p.Ser390Thr Uncertain significance Single submitter
- EIF4G1 p.Ser738Ile Uncertain significance Single submitter
- EIF4G1 p.Thr1495Ser Uncertain significance Single submitter
- EIF4G1 p.Thr1534Asn Uncertain significance Single submitter
- EIF4G1 p.Thr318Ile Uncertain significance Single submitter
- EIF4G1 p.Thr330Ala Uncertain significance Single submitter
- EIF4G1 p.Thr971Met Uncertain significance Single submitter
- EIF4G1 p.Val1141Met Uncertain significance Single submitter
- EIF4G1 p.Val374Leu Uncertain significance Single submitter
- EIF4G1 p.Val544Met Uncertain significance Single submitter
-
EIF4G1 p.Ala1181Asp
Uncertain significance
No assertion criteria
EIF4G1-related disorder
-
EIF4G1 p.Arg231Pro
Uncertain significance
No assertion criteria
EIF4G1-related disorder
-
EIF4G1 p.Pro1063Leu
Uncertain significance
No assertion criteria
Parkinson disease 18, autosomal dominant, susceptibility to
-
EIF4G1 p.Pro245Leu
Uncertain significance
No assertion criteria
EIF4G1-related disorder
-
EIF4G1 p.Pro492Leu
Uncertain significance
No assertion criteria
EIF4G1-related disorder
- EIF4G1 p.Ser637Cys Uncertain significance No assertion criteria
-
EIF4G1 p.Thr829Ser
Uncertain significance
No assertion criteria
EIF4G1-related disorder
Predictors split 88
The independent predictors disagree with each other — read with care.
- EIF4G1 p.Arg1163Trp Uncertain significance Multiple submitters
- EIF4G1 p.Arg1590His Uncertain significance Multiple submitters
-
EIF4G1 p.Pro1131His
Uncertain significance
Multiple submitters
Parkinson disease 18, autosomal dominant, susceptibility to
- EIF4G1 p.Pro334Gln Uncertain significance Multiple submitters
- EIF4G1 p.Ser558Phe Uncertain significance Multiple submitters
-
EIF4G1 p.Thr179Met
Uncertain significance
Multiple submitters
Parkinson disease 18, autosomal dominant, susceptibility to
-
EIF4G1 p.Val1479Leu
Uncertain significance
Multiple submitters
EIF4G1-related disorder
- EIF4G1 p.Ala1481Val Uncertain significance Single submitter
- EIF4G1 p.Ala1508Gly Uncertain significance Single submitter
- EIF4G1 p.Ala1592Val Uncertain significance Single submitter
- EIF4G1 p.Arg1139Cys Uncertain significance Single submitter
- EIF4G1 p.Arg1160Pro Uncertain significance Single submitter
- EIF4G1 p.Arg1166Gln Uncertain significance Single submitter
- EIF4G1 p.Arg1166Pro Uncertain significance Single submitter
- EIF4G1 p.Arg1170Leu Uncertain significance Single submitter
-
EIF4G1 p.Arg1173Gly
Uncertain significance
Single submitter
Parkinson disease 18, autosomal dominant, susceptibility to
- EIF4G1 p.Arg1176His Uncertain significance Single submitter
- EIF4G1 p.Arg1178Trp Uncertain significance Single submitter
- EIF4G1 p.Arg1184Trp Uncertain significance Single submitter
- EIF4G1 p.Arg1197Gln Uncertain significance Single submitter
- EIF4G1 p.Arg1197Trp Uncertain significance Single submitter
- EIF4G1 p.Arg1214Gln Uncertain significance Single submitter
- EIF4G1 p.Arg1216Cys Uncertain significance Single submitter
- EIF4G1 p.Arg1218Leu Uncertain significance Single submitter
- EIF4G1 p.Arg1218Trp Uncertain significance Single submitter
- EIF4G1 p.Arg1280Trp Uncertain significance Single submitter
- EIF4G1 p.Arg1289Cys Uncertain significance Single submitter
- EIF4G1 p.Arg740Gln Uncertain significance Single submitter
- EIF4G1 p.Arg879Cys Uncertain significance Single submitter
- EIF4G1 p.Asn1257Asp Uncertain significance Single submitter
- EIF4G1 p.Asp414Tyr Uncertain significance Single submitter
- EIF4G1 p.Gln1083His Uncertain significance Single submitter
- EIF4G1 p.Gln1314Lys Uncertain significance Single submitter
- EIF4G1 p.Gln86Glu Uncertain significance Single submitter
- EIF4G1 p.Glu1595Ala Uncertain significance Single submitter
- EIF4G1 p.Glu326Asp Uncertain significance Single submitter
- EIF4G1 p.Glu326Val Uncertain significance Single submitter
- EIF4G1 p.Glu427Lys Uncertain significance Single submitter
- EIF4G1 p.Glu885Lys Uncertain significance Single submitter
- EIF4G1 p.Gly107Arg Uncertain significance Single submitter
- EIF4G1 p.Gly1400Val Uncertain significance Single submitter
- EIF4G1 p.Gly1434Cys Uncertain significance Single submitter
- EIF4G1 p.Gly686Cys Uncertain significance Single submitter
- EIF4G1 p.His1281Arg Uncertain significance Single submitter
- EIF4G1 p.Ile1250Thr Uncertain significance Single submitter
- EIF4G1 p.Ile715Val Uncertain significance Single submitter
- EIF4G1 p.Leu1023Phe Uncertain significance Single submitter
- EIF4G1 p.Leu1426Arg Uncertain significance Single submitter
- EIF4G1 p.Leu484Phe Uncertain significance Single submitter
- EIF4G1 p.Lys1153Glu Uncertain significance Single submitter
- EIF4G1 p.Lys1391Gln Uncertain significance Single submitter
-
EIF4G1 p.Lys524Glu
Uncertain significance
Single submitter
Parkinson disease 18, autosomal dominant, susceptibility to
- EIF4G1 p.Lys726Glu Uncertain significance Single submitter
- EIF4G1 p.Lys853Asn Uncertain significance Single submitter
- EIF4G1 p.Met1329Val Uncertain significance Single submitter
- EIF4G1 p.Met1355Thr Uncertain significance Single submitter
- EIF4G1 p.Met823Thr Uncertain significance Single submitter
- EIF4G1 p.Pro1045Ala Uncertain significance Single submitter
- EIF4G1 p.Pro116Arg Uncertain significance Single submitter
- EIF4G1 p.Pro1180Arg Uncertain significance Single submitter
- EIF4G1 p.Pro162Thr Uncertain significance Single submitter
- EIF4G1 p.Pro264Leu Uncertain significance Single submitter
-
EIF4G1 p.Pro319Arg
Uncertain significance
Single submitter
Parkinson disease 18, autosomal dominant, susceptibility to
- EIF4G1 p.Pro59Leu Uncertain significance Single submitter
- EIF4G1 p.Pro701Thr Uncertain significance Single submitter
- EIF4G1 p.Pro708His Uncertain significance Single submitter
- EIF4G1 p.Pro74Leu Uncertain significance Single submitter
- EIF4G1 p.Ser1374Tyr Uncertain significance Single submitter
- EIF4G1 p.Ser198Cys Uncertain significance Single submitter
- EIF4G1 p.Ser261Leu Uncertain significance Single submitter
- EIF4G1 p.Ser34Gly Uncertain significance Single submitter
- EIF4G1 p.Ser439Cys Uncertain significance Single submitter
- EIF4G1 p.Ser85Phe Uncertain significance Single submitter
- EIF4G1 p.Ser988Gly Uncertain significance Single submitter
- EIF4G1 p.Thr1119Ile Uncertain significance Single submitter
- EIF4G1 p.Thr35Lys Uncertain significance Single submitter
- EIF4G1 p.Thr830Met Uncertain significance Single submitter
- EIF4G1 p.Thr834Ile Uncertain significance Single submitter
- EIF4G1 p.Thr873Met Uncertain significance Single submitter
- EIF4G1 p.Val1266Met Uncertain significance Single submitter
- EIF4G1 p.Val1486Ala Uncertain significance Single submitter
- EIF4G1 p.Val1503Met Uncertain significance Single submitter
- EIF4G1 p.Val226Ile Uncertain significance Single submitter
- EIF4G1 p.Val32Ala Uncertain significance Single submitter
- EIF4G1 p.Val392Met Likely benign Single submitter
-
EIF4G1 p.Arg1216His
Benign
No assertion criteria
EIF4G1-related disorder
- EIF4G1 p.Arg650Trp Uncertain significance No assertion criteria
-
EIF4G1 p.Thr355Ile
Likely benign
No assertion criteria
EIF4G1-related disorder
All EIF4G1 variants
Benign 32
- c.1519+46C>G Multiple submitters
- c.2275-69C>G Multiple submitters
- c.2473-18A>G Multiple submitters
- c.3122-3C>T Multiple submitters
- c.324+107T>A Multiple submitters
- c.325-57G>A Multiple submitters
- c.3325+16C>T Multiple submitters Parkinson disease 18, autosomal dominant, susceptibility to
- c.3953+252A>G Multiple submitters
- c.3953+312C>G Multiple submitters
- c.3953+9A>G Multiple submitters Parkinson disease 18, autosomal dominant, susceptibility to
- c.3954-64C>T Multiple submitters
- c.4395+5G>A Multiple submitters
- c.537+127T>G Multiple submitters
- c.697+93A>T Multiple submitters
- c.698-101C>T Multiple submitters
- c.-35+13T>A Multiple submitters
- c.-35+75A>T Multiple submitters
- p.His1335= Multiple submitters
- p.Leu1233Pro Multiple submitters
- p.Met432Val Multiple submitters Parkinson disease 18, autosomal dominant, susceptibility to
- p.Phe1461= Multiple submitters
- p.Tyr311Cys Multiple submitters
- c.147+335del Single submitter
- c.1796-3C>T Single submitter
- c.425-221_425-204del Single submitter
- c.425-222_425-207del Single submitter
- c.425-224_425-205del Single submitter
- c.425-262GT[19] Single submitter
- c.4619-181G>A Single submitter
- p.466GEA[2] Single submitter
- p.Arg566Cys Single submitter
- p.Arg1216His No assertion criteria EIF4G1-related disorder ⚠
Benign/Likely benign 6
- p.Asp1462= Multiple submitters
- p.Asp1517= Multiple submitters
- p.Leu1504= Multiple submitters Parkinson disease 18, autosomal dominant, susceptibility to
- p.Pro1229Ala Multiple submitters
- p.Thr161Ala Multiple submitters
- p.Val1417= Multiple submitters Parkinson disease 18, autosomal dominant, susceptibility to
Likely benign 37
- p.Arg1216= Multiple submitters
- p.Arg993= Multiple submitters Parkinson disease 18, autosomal dominant, susceptibility to
- p.Ile806Val Multiple submitters
- p.Pro992= Multiple submitters
- c.2472+10C>T Single submitter
- c.2857-8C>T Single submitter
- c.425-10C>G Single submitter
- p.Ala1129= Single submitter
- p.Ala1220= Single submitter
- p.Ala13Pro Single submitter
- p.Ala1418Thr Single submitter
- p.Ala433= Single submitter
- p.Ala537Val Single submitter
- p.Ala550Pro Single submitter
- p.Ala56= Single submitter
- p.Arg312Cys Single submitter
- p.Leu320= Single submitter
- p.Leu530= Single submitter
- p.Pro11= Single submitter
- p.Pro383Ser Single submitter
- p.Ser1098= Single submitter
- p.Thr449Ala Single submitter
- p.Thr941= Single submitter
- p.Tyr1488= Single submitter
- p.Val392Met Single submitter ⚠
- c.2856+8T>G No assertion criteria EIF4G1-related disorder
- c.3429-4C>T No assertion criteria EIF4G1-related disorder
- p.Ala1291= No assertion criteria
- p.Ala1506= No assertion criteria
- p.Ala717Pro No assertion criteria
- p.Arg888= No assertion criteria EIF4G1-related disorder
- p.Asp1500= No assertion criteria
- p.Ile1078= No assertion criteria EIF4G1-related disorder
- p.Ile491Phe No assertion criteria
- p.Leu283= No assertion criteria
- p.Pro14= No assertion criteria EIF4G1-related disorder
- p.Thr355Ile No assertion criteria EIF4G1-related disorder ⚠
Uncertain significance 175
- p.Arg1163Trp Multiple submitters ⚠
- p.Arg1590His Multiple submitters ⚠
- p.Glu339Gln Multiple submitters Parkinson disease 18, autosomal dominant, susceptibility to ⚠
- p.Glu870Ala Multiple submitters ⚠
- p.Leu1275His Multiple submitters Parkinson disease 18, autosomal dominant, susceptibility to ⚠
- p.Pro1131His Multiple submitters Parkinson disease 18, autosomal dominant, susceptibility to ⚠
- p.Pro334Gln Multiple submitters ⚠
- p.Ser558Phe Multiple submitters ⚠
- p.Thr179Met Multiple submitters Parkinson disease 18, autosomal dominant, susceptibility to ⚠
- p.Thr834Ala Multiple submitters ⚠
- p.Val1479Leu Multiple submitters EIF4G1-related disorder ⚠
- p.Ala1112Val Single submitter ⚠
- p.Ala1116Gly Single submitter ⚠
- p.Ala1154Val Single submitter ⚠
- p.Ala1225Gly Single submitter ⚠
- p.Ala1235Val Single submitter ⚠
- p.Ala1236Val Single submitter Parkinson disease 18, autosomal dominant, susceptibility to ⚠
- p.Ala1291Ser Single submitter ⚠
- p.Ala1293Pro Single submitter ⚠
- p.Ala1481Val Single submitter ⚠
- p.Ala1508Gly Single submitter ⚠
- p.Ala1592Val Single submitter ⚠
- p.Ala159Ser Single submitter EIF4G1-related disorder ⚠
- p.Ala219Gly Single submitter ⚠
- p.Ala22Pro Single submitter ⚠
- p.Ala281Thr Single submitter ⚠
- p.Ala407Thr Single submitter ⚠
- p.Ala493Asp Single submitter ⚠
- p.Ala493Gly Single submitter ⚠
- p.Ala537Thr Single submitter ⚠
- p.Ala570Val Single submitter ⚠
- p.Ala63Thr Single submitter ⚠
- p.Ala752Val Single submitter ⚠
- p.Arg1139Cys Single submitter ⚠
- p.Arg1160Pro Single submitter ⚠
- p.Arg1166Gln Single submitter ⚠
- p.Arg1166Pro Single submitter ⚠
- p.Arg1170Leu Single submitter ⚠
- p.Arg1173Gly Single submitter Parkinson disease 18, autosomal dominant, susceptibility to ⚠
- p.Arg1176His Single submitter ⚠
- p.Arg1178Trp Single submitter ⚠
- p.Arg1184Trp Single submitter ⚠
- p.Arg1197Gln Single submitter ⚠
- p.Arg1197Trp Single submitter ⚠
- p.Arg1214Gln Single submitter ⚠
- p.Arg1216Cys Single submitter ⚠
- p.Arg1218Leu Single submitter ⚠
- p.Arg1218Trp Single submitter ⚠
- p.Arg1280Trp Single submitter ⚠
- p.Arg1289Cys Single submitter ⚠
- p.Arg1367Thr Single submitter ⚠
- p.Arg244Gly Single submitter ⚠
- p.Arg312His Single submitter ⚠
- p.Arg611Cys Single submitter ⚠
- p.Arg713Cys Single submitter ⚠
- p.Arg713His Single submitter ⚠
- p.Arg740Gln Single submitter ⚠
- p.Arg879Cys Single submitter ⚠
- p.Arg893Leu Single submitter ⚠
- p.Asn1257Asp Single submitter ⚠
- p.Asn553Asp Single submitter Parkinson disease 18, autosomal dominant, susceptibility to ⚠
- p.Asn583Ser Single submitter ⚠
- p.Asp414Tyr Single submitter ⚠
- p.Asp599Gly Single submitter ⚠
- p.Asp642Glu Single submitter ⚠
- p.Cys1516Phe Single submitter ⚠
- p.Gln1083His Single submitter ⚠
- p.Gln1314Lys Single submitter ⚠
- p.Gln1349Arg Single submitter ⚠
- p.Gln592Lys Single submitter ⚠
- p.Gln86Glu Single submitter ⚠
- p.Glu1111Asp Single submitter ⚠
- p.Glu1595Ala Single submitter ⚠
- p.Glu326Asp Single submitter ⚠
- p.Glu326Val Single submitter ⚠
- p.Glu427Lys Single submitter ⚠
- p.Glu585Ala Single submitter ⚠
- p.Glu885Lys Single submitter ⚠
- p.Gly107Arg Single submitter ⚠
- p.Gly1400Val Single submitter ⚠
- p.Gly1434Cys Single submitter ⚠
- p.Gly686Cys Single submitter ⚠
- p.Gly748Glu Single submitter ⚠
- p.His1281Arg Single submitter ⚠
- p.His252Arg Single submitter ⚠
- p.Ile1018Met Single submitter ⚠
- p.Ile1249Val Single submitter ⚠
- p.Ile1250Thr Single submitter ⚠
- p.Ile1362Met Single submitter ⚠
- p.Ile715Val Single submitter ⚠
- p.Ile725Val Single submitter ⚠
- p.Ile798Thr Single submitter ⚠
- p.Ile942Thr Single submitter ⚠
- p.Leu1023Phe Single submitter ⚠
- p.Leu1044Val Single submitter ⚠
- p.Leu1161Pro Single submitter ⚠
- p.Leu1204Pro Single submitter ⚠
- p.Leu1426Arg Single submitter ⚠
- p.Leu313Pro Single submitter ⚠
- p.Leu380Pro Single submitter ⚠
- p.Leu484Phe Single submitter ⚠
- p.Leu531Met Single submitter ⚠
- p.Leu604Val Single submitter ⚠
- p.Leu678Val Single submitter ⚠
- p.Lys1153Glu Single submitter ⚠
- p.Lys1391Gln Single submitter ⚠
- p.Lys1452Glu Single submitter ⚠
- p.Lys524Glu Single submitter Parkinson disease 18, autosomal dominant, susceptibility to ⚠
- p.Lys726Glu Single submitter ⚠
- p.Lys739Gln Single submitter ⚠
- p.Lys853Asn Single submitter ⚠
- p.Met1259Leu Single submitter Parkinson disease 18, autosomal dominant, susceptibility to ⚠
- p.Met1329Val Single submitter ⚠
- p.Met1355Thr Single submitter ⚠
- p.Met165Ile Single submitter ⚠
- p.Met823Thr Single submitter ⚠
- p.Met955Val Single submitter ⚠
- p.Pro1045Ala Single submitter ⚠
- p.Pro1105Thr Single submitter ⚠
- p.Pro116Arg Single submitter ⚠
- p.Pro1180Arg Single submitter ⚠
- p.Pro1201Arg Single submitter ⚠
- p.Pro12fs Single submitter late-onset Parkinson disease
- p.Pro135Ala Single submitter ⚠
- p.Pro162Thr Single submitter ⚠
- p.Pro209Thr Single submitter ⚠
- p.Pro245Ser Single submitter ⚠
- p.Pro264Leu Single submitter ⚠
- p.Pro319Arg Single submitter Parkinson disease 18, autosomal dominant, susceptibility to ⚠
- p.Pro384Leu Single submitter ⚠
- p.Pro384Thr Single submitter ⚠
- p.Pro451Gln Single submitter ⚠
- p.Pro565Leu Single submitter ⚠
- p.Pro58Ser Single submitter ⚠
- p.Pro59Leu Single submitter ⚠
- p.Pro701Thr Single submitter ⚠
- p.Pro708His Single submitter ⚠
- p.Pro74Leu Single submitter ⚠
- p.Ser1374Tyr Single submitter ⚠
- p.Ser1581Cys Single submitter ⚠
- p.Ser198Cys Single submitter ⚠
- p.Ser261Leu Single submitter ⚠
- p.Ser34Gly Single submitter ⚠
- p.Ser376Pro Single submitter ⚠
- p.Ser390Thr Single submitter ⚠
- p.Ser439Cys Single submitter ⚠
- p.Ser738Ile Single submitter ⚠
- p.Ser85Phe Single submitter ⚠
- p.Ser988Gly Single submitter ⚠
- p.Thr1119Ile Single submitter ⚠
- p.Thr1495Ser Single submitter ⚠
- p.Thr1534Asn Single submitter ⚠
- p.Thr318Ile Single submitter ⚠
- p.Thr330Ala Single submitter ⚠
- p.Thr35Lys Single submitter ⚠
- p.Thr830Met Single submitter ⚠
- p.Thr834Ile Single submitter ⚠
- p.Thr873Met Single submitter ⚠
- p.Thr971Met Single submitter ⚠
- p.Val1141Met Single submitter ⚠
- p.Val1266Met Single submitter ⚠
- p.Val1486Ala Single submitter ⚠
- p.Val1503Met Single submitter ⚠
- p.Val226Ile Single submitter ⚠
- p.Val32Ala Single submitter ⚠
- p.Val374Leu Single submitter ⚠
- p.Val544Met Single submitter ⚠
- p.Ala1181Asp No assertion criteria EIF4G1-related disorder ⚠
- p.Arg231Pro No assertion criteria EIF4G1-related disorder ⚠
- p.Arg650Trp No assertion criteria ⚠
- p.Pro1063Leu No assertion criteria Parkinson disease 18, autosomal dominant, susceptibility to ⚠
- p.Pro245Leu No assertion criteria EIF4G1-related disorder ⚠
- p.Pro492Leu No assertion criteria EIF4G1-related disorder ⚠
- p.Ser637Cys No assertion criteria ⚠
- p.Thr829Ser No assertion criteria EIF4G1-related disorder ⚠