GIGYF2 — 266 ClinVar variants
All ClinVar germline GIGYF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 140 flagged for review →
1 Pathogenic · 2 Conflicting · 45 Benign · 5 Benign/Likely benign · 50 Likely benign · 163 Uncertain significance
Full GIGYF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 140
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 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
GIGYF2 p.Ala793Val
Conflicting
Single submitter
Parkinson disease 11, autosomal dominant, susceptibility to
-
GIGYF2 p.Thr188Ala
Conflicting
Single submitter
GIGYF2-related disorder
Predictors lean, ClinVar uncertain 103
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- GIGYF2 p.Arg326Trp Uncertain significance Multiple submitters
- GIGYF2 p.Glu330Lys Uncertain significance Multiple submitters
- GIGYF2 p.Met868Ile Uncertain significance Multiple submitters
- GIGYF2 p.Thr370Ala Uncertain significance Multiple submitters
- GIGYF2 p.Ala1058Thr Uncertain significance Single submitter
- GIGYF2 p.Ala1069Thr Uncertain significance Single submitter
- GIGYF2 p.Ala521Gly Uncertain significance Single submitter
- GIGYF2 p.Arg198Cys Uncertain significance Single submitter
- GIGYF2 p.Arg251Gln Uncertain significance Single submitter
- GIGYF2 p.Arg260Gln Uncertain significance Single submitter
- GIGYF2 p.Arg326Gln Uncertain significance Single submitter
- GIGYF2 p.Arg413Trp Uncertain significance Single submitter
- GIGYF2 p.Arg425Gly Uncertain significance Single submitter
- GIGYF2 p.Arg425Thr Uncertain significance Single submitter
- GIGYF2 p.Arg609Gln Uncertain significance Single submitter
- GIGYF2 p.Arg780Gln Uncertain significance Single submitter
- GIGYF2 p.Arg828Lys Uncertain significance Single submitter
- GIGYF2 p.Arg841Gly Uncertain significance Single submitter
- GIGYF2 p.Arg852Gln Uncertain significance Single submitter
- GIGYF2 p.Arg860Gln Uncertain significance Single submitter
- GIGYF2 p.Arg897His Uncertain significance Single submitter
- GIGYF2 p.Arg899Gly Uncertain significance Single submitter
- GIGYF2 p.Arg90Ile Uncertain significance Single submitter
- GIGYF2 p.Arg958Gln Uncertain significance Single submitter
- GIGYF2 p.Asn1036Ser Uncertain significance Single submitter
- GIGYF2 p.Asn1112His Uncertain significance Single submitter
- GIGYF2 p.Asn1254Asp Uncertain significance Single submitter
- GIGYF2 p.Asn416Ser Uncertain significance Single submitter
- GIGYF2 p.Asn674Ser Uncertain significance Single submitter
- GIGYF2 p.Asn934Ser Uncertain significance Single submitter
- GIGYF2 p.Asn991Ser Uncertain significance Single submitter
- GIGYF2 p.Asp1180Gly Uncertain significance Single submitter
- GIGYF2 p.Asp263Glu Uncertain significance Single submitter
- GIGYF2 p.Asp61Tyr Uncertain significance Single submitter
- GIGYF2 p.Gln1024Arg Uncertain significance Single submitter
- GIGYF2 p.Gln1212Pro Uncertain significance Single submitter
- GIGYF2 p.Gln389Arg Uncertain significance Single submitter
- GIGYF2 p.Gln439His Uncertain significance Single submitter
- GIGYF2 p.Gln644Arg Uncertain significance Single submitter
- GIGYF2 p.Gln664Arg Uncertain significance Single submitter
- GIGYF2 p.Gln664His Uncertain significance Single submitter
- GIGYF2 p.Gln739Arg Uncertain significance Single submitter
- GIGYF2 p.Gln773Lys Uncertain significance Single submitter
- GIGYF2 p.Gln816Glu Uncertain significance Single submitter
- GIGYF2 p.Glu428Gly Uncertain significance Single submitter
- GIGYF2 p.Gly244Cys Uncertain significance Single submitter
- GIGYF2 p.Gly267Val Uncertain significance Single submitter
- GIGYF2 p.Gly487Ser Uncertain significance Single submitter
- GIGYF2 p.Gly706Asp Uncertain significance Single submitter
- GIGYF2 p.His1023Asn Uncertain significance Single submitter
- GIGYF2 p.His1171Arg Uncertain significance Single submitter
- GIGYF2 p.His1240Pro Uncertain significance Single submitter
- GIGYF2 p.His386Arg Uncertain significance Single submitter
- GIGYF2 p.His530Arg Uncertain significance Single submitter
- GIGYF2 p.Ile1041Thr Uncertain significance Single submitter
- GIGYF2 p.Ile197Val Uncertain significance Single submitter
- GIGYF2 p.Ile24Val Uncertain significance Single submitter
- GIGYF2 p.Ile440Val Uncertain significance Single submitter
- GIGYF2 p.Leu1239Phe Uncertain significance Single submitter
- GIGYF2 p.Leu462Phe Uncertain significance Single submitter
- GIGYF2 p.Leu875Arg Uncertain significance Single submitter
- GIGYF2 p.Leu971Met Uncertain significance Single submitter
- GIGYF2 p.Leu975Phe Uncertain significance Single submitter
- GIGYF2 p.Lys1000Thr Uncertain significance Single submitter
-
GIGYF2 p.Lys539Gln
Uncertain significance
Single submitter
Parkinson disease 11, autosomal dominant, susceptibility to
- GIGYF2 p.Met1076Val Uncertain significance Single submitter
- GIGYF2 p.Met1142Thr Uncertain significance Single submitter
- GIGYF2 p.Met297Val Uncertain significance Single submitter
- GIGYF2 p.Met529Val Uncertain significance Single submitter
- GIGYF2 p.Met602Val Uncertain significance Single submitter
- GIGYF2 p.Met746Ile Uncertain significance Single submitter
- GIGYF2 p.Phe1135Tyr Uncertain significance Single submitter
- GIGYF2 p.Pro1053Arg Uncertain significance Single submitter
- GIGYF2 p.Pro117Ser Uncertain significance Single submitter
- GIGYF2 p.Pro1222Ser Uncertain significance Single submitter
- GIGYF2 p.Pro348Leu Uncertain significance Single submitter
- GIGYF2 p.Pro456Ser Uncertain significance Single submitter
- GIGYF2 p.Pro482Arg Uncertain significance Single submitter
- GIGYF2 p.Ser1182Phe Uncertain significance Single submitter
- GIGYF2 p.Ser1248Ile Uncertain significance Single submitter
-
GIGYF2 p.Ser284Thr
Uncertain significance
Single submitter
Parkinson disease 11, autosomal dominant, susceptibility to
- GIGYF2 p.Ser335Thr Uncertain significance Single submitter
- GIGYF2 p.Ser374Thr Uncertain significance Single submitter
- GIGYF2 p.Ser375Pro Uncertain significance Single submitter
- GIGYF2 p.Ser376Pro Uncertain significance Single submitter
-
GIGYF2 p.Ser438Leu
Uncertain significance
Single submitter
Parkinson disease 11, autosomal dominant, susceptibility to
- GIGYF2 p.Ser566Ala Uncertain significance Single submitter
- GIGYF2 p.Ser993Ile Uncertain significance Single submitter
- GIGYF2 p.Thr1033Met Uncertain significance Single submitter
- GIGYF2 p.Thr1071Ile Uncertain significance Single submitter
- GIGYF2 p.Thr112Ala Uncertain significance Single submitter
-
GIGYF2 p.Thr25Ala
Uncertain significance
Single submitter
Parkinson disease 11, autosomal dominant, susceptibility to
-
GIGYF2 p.Thr716Ala
Uncertain significance
Single submitter
Parkinson disease 11, autosomal dominant, susceptibility to
- GIGYF2 p.Thr717Ala Uncertain significance Single submitter
- GIGYF2 p.Thr999Met Uncertain significance Single submitter
- GIGYF2 p.Val1105Ile Uncertain significance Single submitter
- GIGYF2 p.Val1107Met Uncertain significance Single submitter
- GIGYF2 p.Val114Met Uncertain significance Single submitter
- GIGYF2 p.Val328Leu Uncertain significance Single submitter
- GIGYF2 p.Val992Ala Uncertain significance Single submitter
- GIGYF2 p.Arg463Gln Uncertain significance No assertion criteria
-
GIGYF2 p.Gln1211Pro
Uncertain significance
No assertion criteria
GIGYF2-related disorder
-
GIGYF2 p.Gln725Glu
Uncertain significance
No assertion criteria
GIGYF2-related disorder
Predictors split 35
The independent predictors disagree with each other — read with care.
- GIGYF2 p.Arg865Gln Uncertain significance Multiple submitters
-
GIGYF2 p.Asn56Ser
Uncertain significance
Multiple submitters
Parkinson disease 11, autosomal dominant, susceptibility to
- GIGYF2 p.Ala1176Val Uncertain significance Single submitter
- GIGYF2 p.Ala748Gly Uncertain significance Single submitter
- GIGYF2 p.Ala803Ser Uncertain significance Single submitter
- GIGYF2 p.Arg770Trp Uncertain significance Single submitter
- GIGYF2 p.Arg795His Uncertain significance Single submitter
- GIGYF2 p.Arg796Cys Uncertain significance Single submitter
- GIGYF2 p.Asp1080Asn Uncertain significance Single submitter
- GIGYF2 p.Asp283Ala Uncertain significance Single submitter
- GIGYF2 p.Asp574His Uncertain significance Single submitter
- GIGYF2 p.Asp711Glu Uncertain significance Single submitter
- GIGYF2 p.Gln1219Arg Uncertain significance Single submitter
- GIGYF2 p.Gln836Glu Uncertain significance Single submitter
- GIGYF2 p.Gln911Lys Uncertain significance Single submitter
- GIGYF2 p.Glu1118Lys Uncertain significance Single submitter
- GIGYF2 p.Glu1193Gln Uncertain significance Single submitter
- GIGYF2 p.Glu162Val Uncertain significance Single submitter
- GIGYF2 p.Glu315Lys Uncertain significance Single submitter
- GIGYF2 p.Glu825Asp Uncertain significance Single submitter
- GIGYF2 p.Leu656Ser Uncertain significance Single submitter
- GIGYF2 p.Leu761Arg Uncertain significance Single submitter
- GIGYF2 p.Leu785His Uncertain significance Single submitter
- GIGYF2 p.Leu840Ser Uncertain significance Single submitter
- GIGYF2 p.Leu866Pro Uncertain significance Single submitter
- GIGYF2 p.Lys37Arg Uncertain significance Single submitter
- GIGYF2 p.Lys849Asn Uncertain significance Single submitter
- GIGYF2 p.Lys973Asn Uncertain significance Single submitter
- GIGYF2 p.Met565Val Uncertain significance Single submitter
- GIGYF2 p.Phe147Cys Uncertain significance Single submitter
- GIGYF2 p.Phe182Leu Uncertain significance Single submitter
- GIGYF2 p.Phe84Leu Uncertain significance Single submitter
- GIGYF2 p.Ser1035Cys Uncertain significance Single submitter
- GIGYF2 p.Ser20Ile Uncertain significance Single submitter
- GIGYF2 p.Thr5Met Uncertain significance Single submitter
All GIGYF2 variants
Pathogenic 1
- p.Arg260Ter Single submitter GIGYF2-associated neurodevelopmental disorder
Conflicting classifications of pathogenicity 2
- p.Ala793Val Single submitter Parkinson disease 11, autosomal dominant, susceptibility to ⚠
- p.Thr188Ala Single submitter GIGYF2-related disorder ⚠
Benign 45
- c.1480-68T>G Multiple submitters
- c.1899-55C>T Multiple submitters
- c.2209-69T>G Multiple submitters
- c.2371-135A>G Multiple submitters
- c.2529+138C>T Multiple submitters
- c.3460+117G>C Multiple submitters
- c.3461-71G>A Multiple submitters
- c.3461-9G>A Multiple submitters Parkinson disease 11, autosomal dominant, susceptibility to
- c.3684+15G>A Multiple submitters Parkinson disease 11, autosomal dominant, susceptibility to
- c.3833-125G>A Multiple submitters
- c.3833-48G>A Multiple submitters
- c.713-172A>G Multiple submitters
- c.713-47A>G Multiple submitters
- c.-4A>C Multiple submitters
- p.Gln1216del Multiple submitters Parkinson disease 11, autosomal dominant, susceptibility to
- p.Gln980= Multiple submitters Parkinson disease 11, autosomal dominant, susceptibility to
- p.Glu518= Multiple submitters Parkinson disease 11, autosomal dominant, susceptibility to
- p.Pro1217= Multiple submitters Parkinson disease 11, autosomal dominant, susceptibility to
- p.Pro460Thr Multiple submitters
- c.171+103C>T Single submitter
- c.171+129C>A Single submitter
- c.171+202C>T Single submitter
- c.1806+163A>G Single submitter
- c.1806+172T>G Single submitter
- c.2370+300G>A Single submitter
- c.2530-230A>C Single submitter
- c.2767-307A>G Single submitter
- c.3305+181T>G Single submitter
- c.3684+43dup Single submitter
- c.3685-286A>G Single submitter
- c.379+247A>G Single submitter
- c.3833-287A>G Single submitter
- c.42-284G>T Single submitter
- c.42-333A>G Single submitter
- c.532+7590A>G Single submitter
- c.532+9242A>C Single submitter
- c.712+99dup Single submitter
- c.-43-221C>T Single submitter
- p.Ala99= Single submitter
- p.Gln1022dup Single submitter
- p.Leu1209_Gln1215del Single submitter
- p.Ser1285= Single submitter
- p.Pro1210= No assertion criteria GIGYF2-related disorder
- p.Pro423Leu No assertion criteria GIGYF2-related disorder
- p.Thr928= No assertion criteria GIGYF2-related disorder
Benign/Likely benign 5
- p.Ala572= Multiple submitters
- p.Gln1211fs Multiple submitters Parkinson disease 11, autosomal dominant, susceptibility to
- p.Leu1209_Gln1216del Multiple submitters
- p.Pro1225_Gln1228del Multiple submitters
- p.Ser945= Multiple submitters
Likely benign 50
- c.268-15_268-6del Multiple submitters
- p.Gln1215= Multiple submitters
- p.Leu1209Pro Multiple submitters
- c.2006+14C>G Single submitter
- c.2208+9C>T Single submitter
- c.2209-18A>G Single submitter
- c.2370+6T>C Single submitter
- c.268-11_268-6del Single submitter
- c.268-12_268-6del Single submitter
- c.268-14_268-6del Single submitter
- c.268-6dup Single submitter
- c.3305+10A>C Single submitter
- c.3306-12del Single submitter
- c.379+17A>G Single submitter
- c.3832+8C>T Single submitter
- c.533-6T>A Single submitter
- p.1218PQQP[1] Single submitter
- p.Ala637Val Single submitter
- p.Arg860= Single submitter
- p.Asn1282= Single submitter
- p.Asn416= Single submitter
- p.Asn457Thr Single submitter Parkinson disease 11, autosomal dominant, susceptibility to
- p.Asp349Glu Single submitter
- p.Gln1251= Single submitter
- p.Gln917del Single submitter
- p.Glu294= Single submitter
- p.Glu760= Single submitter
- p.Gly115= Single submitter
- p.Leu823= Single submitter
- p.Leu918= Single submitter
- p.Leu986= Single submitter
- p.Phe577= Single submitter
- p.Pro1217Leu Single submitter
- p.Ser1063Asn Single submitter
- p.Ser275= Single submitter
- p.Ser684= Single submitter
- p.Ter1300= Single submitter
- p.Thr405Met Single submitter
- p.Thr461Ala Single submitter
- p.Thr5= Single submitter
- p.Val1242= Single submitter
- p.Val1258= Single submitter
- c.1640-3T>C No assertion criteria GIGYF2-related disorder
- c.533-10719T>C No assertion criteria GIGYF2-related disorder
- p.Glu1163= No assertion criteria GIGYF2-related disorder
- p.Glu870= No assertion criteria GIGYF2-related disorder
- p.Leu81= No assertion criteria GIGYF2-related disorder
- p.Lys54= No assertion criteria GIGYF2-related disorder
- p.Thr717= No assertion criteria GIGYF2-related disorder
- p.Tyr43= No assertion criteria GIGYF2-related disorder
Uncertain significance 163
- p.Arg326Trp Multiple submitters ⚠
- p.Arg865Gln Multiple submitters ⚠
- p.Asn56Ser Multiple submitters Parkinson disease 11, autosomal dominant, susceptibility to ⚠
- p.Glu330Lys Multiple submitters ⚠
- p.Met868Ile Multiple submitters ⚠
- p.Thr370Ala Multiple submitters ⚠
- c.171+4A>G Single submitter GIGYF2-related disorder
- c.3099+1G>T Single submitter
- c.3099+6del Single submitter
- c.41+4A>G Single submitter Parkinson disease 11, autosomal dominant, susceptibility to
- p.Ala1058Thr Single submitter ⚠
- p.Ala1069Thr Single submitter ⚠
- p.Ala1176Val Single submitter ⚠
- p.Ala521Gly Single submitter ⚠
- p.Ala748Gly Single submitter ⚠
- p.Ala803Ser Single submitter ⚠
- p.Arg174Ter Single submitter
- p.Arg198Cys Single submitter ⚠
- p.Arg251Gln Single submitter ⚠
- p.Arg260Gln Single submitter ⚠
- p.Arg326Gln Single submitter ⚠
- p.Arg413Trp Single submitter ⚠
- p.Arg425Gly Single submitter ⚠
- p.Arg425Thr Single submitter ⚠
- p.Arg609Gln Single submitter ⚠
- p.Arg612Ter Single submitter
- p.Arg762Gly Single submitter
- p.Arg770Trp Single submitter ⚠
- p.Arg780Gln Single submitter ⚠
- p.Arg795His Single submitter ⚠
- p.Arg796Cys Single submitter ⚠
- p.Arg828fs Single submitter
- p.Arg828Lys Single submitter ⚠
- p.Arg841Gly Single submitter ⚠
- p.Arg852Gln Single submitter ⚠
- p.Arg860Gln Single submitter ⚠
- p.Arg865Trp Single submitter
- p.Arg897His Single submitter ⚠
- p.Arg899Gly Single submitter ⚠
- p.Arg90Ile Single submitter ⚠
- p.Arg958Gln Single submitter ⚠
- p.Asn1036Ser Single submitter ⚠
- p.Asn1112His Single submitter ⚠
- p.Asn1254Asp Single submitter ⚠
- p.Asn416Ser Single submitter ⚠
- p.Asn674Ser Single submitter ⚠
- p.Asn934Ser Single submitter ⚠
- p.Asn991Ser Single submitter ⚠
- p.Asp1080Asn Single submitter ⚠
- p.Asp1180Gly Single submitter ⚠
- p.Asp263Glu Single submitter ⚠
- p.Asp283Ala Single submitter ⚠
- p.Asp574His Single submitter ⚠
- p.Asp61Tyr Single submitter ⚠
- p.Asp64Gly Single submitter
- p.Asp711Glu Single submitter ⚠
- p.Gln1024Arg Single submitter ⚠
- p.Gln1212Pro Single submitter ⚠
- p.Gln1215_Gln1216del Single submitter Parkinson disease 11, autosomal dominant, susceptibility to
- p.Gln1219Arg Single submitter ⚠
- p.Gln389Arg Single submitter ⚠
- p.Gln439His Single submitter ⚠
- p.Gln634Arg Single submitter
- p.Gln644Arg Single submitter ⚠
- p.Gln664Arg Single submitter ⚠
- p.Gln664His Single submitter ⚠
- p.Gln739Arg Single submitter ⚠
- p.Gln773Lys Single submitter ⚠
- p.Gln816Glu Single submitter ⚠
- p.Gln836Glu Single submitter ⚠
- p.Gln911Lys Single submitter ⚠
- p.Gln950Ter Single submitter
- p.Glu1118Lys Single submitter ⚠
- p.Glu1193Gln Single submitter ⚠
- p.Glu162Val Single submitter ⚠
- p.Glu315Lys Single submitter ⚠
- p.Glu428Gly Single submitter ⚠
- p.Glu760Val Single submitter
- p.Glu824Gly Single submitter
- p.Glu825Asp Single submitter ⚠
- p.Glu830Val Single submitter Parkinson disease 11, autosomal dominant, susceptibility to
- p.Glu869Lys Single submitter
- p.Gly244Cys Single submitter ⚠
- p.Gly267Val Single submitter ⚠
- p.Gly487Ser Single submitter ⚠
- p.Gly706Asp Single submitter ⚠
- p.His1023Asn Single submitter ⚠
- p.His1171Arg Single submitter ⚠
- p.His1240Pro Single submitter ⚠
- p.His386Arg Single submitter ⚠
- p.His530Arg Single submitter ⚠
- p.Ile1041Thr Single submitter ⚠
- p.Ile197Val Single submitter ⚠
- p.Ile24Val Single submitter ⚠
- p.Ile440Val Single submitter ⚠
- p.Leu1239Phe Single submitter ⚠
- p.Leu462Phe Single submitter ⚠
- p.Leu656Ser Single submitter ⚠
- p.Leu761Arg Single submitter ⚠
- p.Leu785His Single submitter ⚠
- p.Leu840Ser Single submitter ⚠
- p.Leu866Pro Single submitter ⚠
- p.Leu875Arg Single submitter ⚠
- p.Leu971Met Single submitter ⚠
- p.Leu975Phe Single submitter ⚠
- p.Lys1000Thr Single submitter ⚠
- p.Lys358fs Single submitter
- p.Lys37Arg Single submitter ⚠
- p.Lys539Gln Single submitter Parkinson disease 11, autosomal dominant, susceptibility to ⚠
- p.Lys849Asn Single submitter ⚠
- p.Lys973Asn Single submitter ⚠
- p.Met1076Val Single submitter ⚠
- p.Met1142Leu Single submitter
- p.Met1142Thr Single submitter ⚠
- p.Met297Val Single submitter ⚠
- p.Met529Val Single submitter ⚠
- p.Met565Val Single submitter ⚠
- p.Met602Val Single submitter ⚠
- p.Met746Ile Single submitter ⚠
- p.Met94Thr Single submitter
- p.Phe1135Tyr Single submitter ⚠
- p.Phe147Cys Single submitter ⚠
- p.Phe182Leu Single submitter ⚠
- p.Phe84Leu Single submitter ⚠
- p.Pro1053Arg Single submitter ⚠
- p.Pro117Ser Single submitter ⚠
- p.Pro1222Ser Single submitter ⚠
- p.Pro348Leu Single submitter ⚠
- p.Pro456Ser Single submitter ⚠
- p.Pro482Arg Single submitter ⚠
- p.Ser1035Cys Single submitter ⚠
- p.Ser1182Phe Single submitter ⚠
- p.Ser1248Ile Single submitter ⚠
- p.Ser20Ile Single submitter ⚠
- p.Ser275Ile Single submitter
- p.Ser284Thr Single submitter Parkinson disease 11, autosomal dominant, susceptibility to ⚠
- p.Ser335Thr Single submitter ⚠
- p.Ser374Thr Single submitter ⚠
- p.Ser375Pro Single submitter ⚠
- p.Ser376Pro Single submitter ⚠
- p.Ser438Leu Single submitter Parkinson disease 11, autosomal dominant, susceptibility to ⚠
- p.Ser566Ala Single submitter ⚠
- p.Ser993Ile Single submitter ⚠
- p.Thr1033Met Single submitter ⚠
- p.Thr1071Ile Single submitter ⚠
- p.Thr112Ala Single submitter ⚠
- p.Thr1148Met Single submitter
- p.Thr1295Met Single submitter
- p.Thr25Ala Single submitter Parkinson disease 11, autosomal dominant, susceptibility to ⚠
- p.Thr5Met Single submitter ⚠
- p.Thr716Ala Single submitter Parkinson disease 11, autosomal dominant, susceptibility to ⚠
- p.Thr717Ala Single submitter ⚠
- p.Thr999Met Single submitter ⚠
- p.Tyr636Cys Single submitter
- p.Val1105Ile Single submitter ⚠
- p.Val1107Met Single submitter ⚠
- p.Val114Met Single submitter ⚠
- p.Val328Leu Single submitter ⚠
- p.Val992Ala Single submitter ⚠
- p.Arg463Gln No assertion criteria ⚠
- p.Gln1211Pro No assertion criteria GIGYF2-related disorder ⚠
- p.Gln725Glu No assertion criteria GIGYF2-related disorder ⚠
- p.Gln910Ter No assertion criteria GIGYF2-related disorder