CGNL1 — 270 ClinVar variants
All ClinVar germline CGNL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 238 flagged for review →
1 Likely pathogenic · 1 Conflicting · 9 Benign · 27 Likely benign · 232 Uncertain significance
Full CGNL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 238
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.
Predictors lean, ClinVar uncertain 155
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 155
- CGNL1 p.Ala109Thr Uncertain significance Single submitter
- CGNL1 p.Ala1156Thr Uncertain significance Single submitter
- CGNL1 p.Ala209Thr Uncertain significance Single submitter
- CGNL1 p.Ala306Asp Uncertain significance Single submitter
- CGNL1 p.Ala451Val Uncertain significance Single submitter
- CGNL1 p.Ala502Thr Uncertain significance Single submitter
- CGNL1 p.Ala846Thr Uncertain significance Single submitter
- CGNL1 p.Arg1004Gln Uncertain significance Single submitter
- CGNL1 p.Arg1015Ser Uncertain significance Single submitter
- CGNL1 p.Arg1061Gly Uncertain significance Single submitter
- CGNL1 p.Arg1090Ser Uncertain significance Single submitter
- CGNL1 p.Arg1090Thr Uncertain significance Single submitter
- CGNL1 p.Arg1102Lys Uncertain significance Single submitter
- CGNL1 p.Arg1177Trp Uncertain significance Single submitter
- CGNL1 p.Arg1207Cys Uncertain significance Single submitter
- CGNL1 p.Arg1207Ser Uncertain significance Single submitter
- CGNL1 p.Arg1213Trp Uncertain significance Single submitter
- CGNL1 p.Arg132Gly Uncertain significance Single submitter
- CGNL1 p.Arg369Lys Uncertain significance Single submitter
- CGNL1 p.Arg383Lys Uncertain significance Single submitter
- CGNL1 p.Arg420Pro Uncertain significance Single submitter
- CGNL1 p.Arg460Gly Uncertain significance Single submitter
- CGNL1 p.Arg509Leu Uncertain significance Single submitter
- CGNL1 p.Arg509Pro Uncertain significance Single submitter
- CGNL1 p.Arg62Leu Uncertain significance Single submitter
- CGNL1 p.Arg62Pro Uncertain significance Single submitter
- CGNL1 p.Arg680Gln Uncertain significance Single submitter
- CGNL1 p.Arg701Lys Uncertain significance Single submitter
- CGNL1 p.Arg756Pro Uncertain significance Single submitter
- CGNL1 p.Arg874Gln Uncertain significance Single submitter
- CGNL1 p.Asn236Lys Uncertain significance Single submitter
- CGNL1 p.Asn325Thr Uncertain significance Single submitter
- CGNL1 p.Asn561Ser Uncertain significance Single submitter
- CGNL1 p.Asn90Asp Uncertain significance Single submitter
- CGNL1 p.Asp1023Asn Uncertain significance Single submitter
- CGNL1 p.Asp1068Glu Uncertain significance Single submitter
- CGNL1 p.Asp1068Gly Uncertain significance Single submitter
- CGNL1 p.Asp1114Val Uncertain significance Single submitter
- CGNL1 p.Asp1168Val Uncertain significance Single submitter
- CGNL1 p.Asp1256His Uncertain significance Single submitter
- CGNL1 p.Asp1295Gly Uncertain significance Single submitter
- CGNL1 p.Asp289Val Uncertain significance Single submitter
- CGNL1 p.Asp722Glu Uncertain significance Single submitter
- CGNL1 p.Cys234Gly Uncertain significance Single submitter
- CGNL1 p.Cys234Tyr Uncertain significance Single submitter
- CGNL1 p.Cys456Arg Uncertain significance Single submitter
- CGNL1 p.Gln1214Arg Uncertain significance Single submitter
- CGNL1 p.Gln33Lys Uncertain significance Single submitter
- CGNL1 p.Gln362Lys Uncertain significance Single submitter
- CGNL1 p.Gln477Arg Uncertain significance Single submitter
- CGNL1 p.Gln490His Uncertain significance Single submitter
- CGNL1 p.Gln507His Uncertain significance Single submitter
- CGNL1 p.Gln544Arg Uncertain significance Single submitter
- CGNL1 p.Gln549Glu Uncertain significance Single submitter
- CGNL1 p.Gln597Arg Uncertain significance Single submitter
- CGNL1 p.Gln601Glu Uncertain significance Single submitter
- CGNL1 p.Gln817Arg Uncertain significance Single submitter
- CGNL1 p.Gln9His Uncertain significance Single submitter
- CGNL1 p.Glu1108Gly Uncertain significance Single submitter
- CGNL1 p.Glu1226Lys Uncertain significance Single submitter
- CGNL1 p.Glu225Val Uncertain significance Single submitter
- CGNL1 p.Glu248Asp Uncertain significance Single submitter
- CGNL1 p.Glu402Gly Uncertain significance Single submitter
- CGNL1 p.Glu614Asp Uncertain significance Single submitter
- CGNL1 p.Glu692Val Uncertain significance Single submitter
- CGNL1 p.Glu777Gln Uncertain significance Single submitter
- CGNL1 p.Glu788Gly Uncertain significance Single submitter
- CGNL1 p.Glu821Gln Uncertain significance Single submitter
- CGNL1 p.Glu864Gln Uncertain significance Single submitter
- CGNL1 p.Glu970Lys Uncertain significance Single submitter
- CGNL1 p.Gly182Val Uncertain significance Single submitter
- CGNL1 p.Gly348Arg Uncertain significance Single submitter
- CGNL1 p.Gly352Ala Uncertain significance Single submitter
- CGNL1 p.Gly73Glu Uncertain significance Single submitter
- CGNL1 p.His1135Tyr Uncertain significance Single submitter
- CGNL1 p.His141Tyr Uncertain significance Single submitter
- CGNL1 p.His87Tyr Uncertain significance Single submitter
- CGNL1 p.Ile1134Thr Uncertain significance Single submitter
- CGNL1 p.Ile1222Met Uncertain significance Single submitter
- CGNL1 p.Ile216Leu Uncertain significance Single submitter
- CGNL1 p.Ile224Thr Uncertain significance Single submitter
- CGNL1 p.Ile350Val Uncertain significance Single submitter
- CGNL1 p.Ile873Leu Uncertain significance Single submitter
- CGNL1 p.Ile873Val Uncertain significance Single submitter
- CGNL1 p.Leu1005Met Uncertain significance Single submitter
- CGNL1 p.Leu1038Pro Uncertain significance Single submitter
- CGNL1 p.Leu1179Pro Uncertain significance Single submitter
- CGNL1 p.Leu250His Uncertain significance Single submitter
- CGNL1 p.Leu366Pro Uncertain significance Single submitter
- CGNL1 p.Leu64Val Uncertain significance Single submitter
- CGNL1 p.Leu679Val Uncertain significance Single submitter
- CGNL1 p.Leu781Pro Uncertain significance Single submitter
- CGNL1 p.Leu908Pro Uncertain significance Single submitter
- CGNL1 p.Leu998Met Uncertain significance Single submitter
- CGNL1 p.Lys1052Glu Uncertain significance Single submitter
- CGNL1 p.Lys1056Arg Uncertain significance Single submitter
- CGNL1 p.Lys1069Asn Uncertain significance Single submitter
- CGNL1 p.Lys1119Glu Uncertain significance Single submitter
- CGNL1 p.Lys1209Thr Uncertain significance Single submitter
- CGNL1 p.Lys133Arg Uncertain significance Single submitter
- CGNL1 p.Lys176Gln Uncertain significance Single submitter
- CGNL1 p.Lys492Glu Uncertain significance Single submitter
- CGNL1 p.Lys635Arg Uncertain significance Single submitter
- CGNL1 p.Lys641Glu Uncertain significance Single submitter
- CGNL1 p.Lys755Glu Uncertain significance Single submitter
- CGNL1 p.Lys861Glu Uncertain significance Single submitter
- CGNL1 p.Met1014Val Uncertain significance Single submitter
- CGNL1 p.Met1240Val Uncertain significance Single submitter
- CGNL1 p.Met778Arg Uncertain significance Single submitter
- CGNL1 p.Met778Leu Uncertain significance Single submitter
- CGNL1 p.Pro107Ala Uncertain significance Single submitter
- CGNL1 p.Pro111Ser Uncertain significance Single submitter
- CGNL1 p.Pro111Thr Uncertain significance Single submitter
- CGNL1 p.Pro1263Leu Uncertain significance Single submitter
- CGNL1 p.Pro149Ser Uncertain significance Single submitter
- CGNL1 p.Pro169Ala Uncertain significance Single submitter
- CGNL1 p.Pro169Leu Uncertain significance Single submitter
- CGNL1 p.Pro169Thr Uncertain significance Single submitter
- CGNL1 p.Pro266Ala Uncertain significance Single submitter
- CGNL1 p.Pro266Leu Uncertain significance Single submitter
- CGNL1 p.Pro351Arg Uncertain significance Single submitter
- CGNL1 p.Pro462Leu Uncertain significance Single submitter
- CGNL1 p.Pro528Leu Uncertain significance Single submitter
- CGNL1 p.Pro78His Uncertain significance Single submitter
- CGNL1 p.Pro85Ala Uncertain significance Single submitter
- CGNL1 p.Ser1094Thr Uncertain significance Single submitter
- CGNL1 p.Ser239Thr Uncertain significance Single submitter
- CGNL1 p.Ser349Pro Uncertain significance Single submitter
- CGNL1 p.Ser439Asn Uncertain significance Single submitter
- CGNL1 p.Ser479Thr Uncertain significance Single submitter
- CGNL1 p.Ser716Gly Uncertain significance Single submitter
- CGNL1 p.Ser720Leu Uncertain significance Single submitter
- CGNL1 p.Ser810Gly Uncertain significance Single submitter
- CGNL1 p.Ser98Arg Uncertain significance Single submitter
- CGNL1 p.Thr1033Ala Uncertain significance Single submitter
- CGNL1 p.Thr1041Lys Uncertain significance Single submitter
- CGNL1 p.Thr1198Ser Uncertain significance Single submitter
- CGNL1 p.Thr201Asn Uncertain significance Single submitter
- CGNL1 p.Thr258Ser Uncertain significance Single submitter
- CGNL1 p.Thr268Ser Uncertain significance Single submitter
- CGNL1 p.Thr554Ile Uncertain significance Single submitter
- CGNL1 p.Thr60Pro Uncertain significance Single submitter
- CGNL1 p.Thr800Asn Uncertain significance Single submitter
- CGNL1 p.Thr820Asn Uncertain significance Single submitter
- CGNL1 p.Thr949Ser Uncertain significance Single submitter
- CGNL1 p.Val1298Ile Uncertain significance Single submitter
- CGNL1 p.Val213Ala Uncertain significance Single submitter
- CGNL1 p.Val326Ile Uncertain significance Single submitter
- CGNL1 p.Val42Ile Uncertain significance Single submitter
- CGNL1 p.Val634Ile Uncertain significance Single submitter
Predictors split 82
The independent predictors disagree with each other — read with care.
- CGNL1 p.Ala1156Val Uncertain significance Single submitter
- CGNL1 p.Arg1015Cys Uncertain significance Single submitter
- CGNL1 p.Arg1161Cys Uncertain significance Single submitter
- CGNL1 p.Arg1161His Uncertain significance Single submitter
- CGNL1 p.Arg1167Trp Uncertain significance Single submitter
- CGNL1 p.Arg1178Gln Uncertain significance Single submitter
- CGNL1 p.Arg1178Trp Uncertain significance Single submitter
- CGNL1 p.Arg217Cys Uncertain significance Single submitter
- CGNL1 p.Arg369Ser Uncertain significance Single submitter
- CGNL1 p.Arg648Thr Uncertain significance Single submitter
- CGNL1 p.Arg680Trp Uncertain significance Single submitter
- CGNL1 p.Arg693Trp Uncertain significance Single submitter
- CGNL1 p.Arg843Gln Likely benign Single submitter
- CGNL1 p.Arg843Trp Uncertain significance Single submitter
- CGNL1 p.Arg934Ser Uncertain significance Single submitter
- CGNL1 p.Arg965Cys Uncertain significance Single submitter
- CGNL1 p.Asn1171Lys Uncertain significance Single submitter
- CGNL1 p.Asp1168Tyr Uncertain significance Single submitter
- CGNL1 p.Asp1274Asn Uncertain significance Single submitter
- CGNL1 p.Asp344Gly Uncertain significance Single submitter
- CGNL1 p.Asp712Asn Uncertain significance Single submitter
- CGNL1 p.Asp741Gly Uncertain significance Single submitter
- CGNL1 p.Asp741Tyr Uncertain significance Single submitter
- CGNL1 p.Gln1107His Uncertain significance Single submitter
- CGNL1 p.Gln1125Glu Uncertain significance Single submitter
- CGNL1 p.Gln1239His Uncertain significance Single submitter
- CGNL1 p.Gln847His Uncertain significance Single submitter
- CGNL1 p.Glu1039Asp Uncertain significance Single submitter
- CGNL1 p.Glu1165Lys Uncertain significance Single submitter
- CGNL1 p.Glu1166Lys Uncertain significance Single submitter
- CGNL1 p.Glu402Val Uncertain significance Single submitter
- CGNL1 p.Glu633Gly Uncertain significance Single submitter
- CGNL1 p.Glu676Gly Uncertain significance Single submitter
- CGNL1 p.Glu839Lys Uncertain significance Single submitter
- CGNL1 p.Glu877Lys Uncertain significance Single submitter
- CGNL1 p.Gly1280Arg Uncertain significance Single submitter
- CGNL1 p.Gly373Arg Uncertain significance Single submitter
- CGNL1 p.Gly41Arg Uncertain significance Single submitter
- CGNL1 p.His1135Arg Uncertain significance Single submitter
- CGNL1 p.Ile345Thr Uncertain significance Single submitter
- CGNL1 p.Ile357Thr Uncertain significance Single submitter
- CGNL1 p.Ile585Met Uncertain significance Single submitter
- CGNL1 p.Leu1086Phe Uncertain significance Single submitter
- CGNL1 p.Leu130Arg Uncertain significance Single submitter
- CGNL1 p.Leu418His Uncertain significance Single submitter
- CGNL1 p.Leu487Phe Uncertain significance Single submitter
- CGNL1 p.Lys1034Thr Uncertain significance Single submitter
- CGNL1 p.Lys1056Ile Uncertain significance Single submitter
- CGNL1 p.Lys1184Arg Uncertain significance Single submitter
- CGNL1 p.Lys359Asn Uncertain significance Single submitter
- CGNL1 p.Lys564Glu Uncertain significance Single submitter
- CGNL1 p.Lys577Glu Uncertain significance Single submitter
- CGNL1 p.Lys584Glu Uncertain significance Single submitter
- CGNL1 p.Lys955Asn Uncertain significance Single submitter
- CGNL1 p.Lys996Gln Uncertain significance Single submitter
- CGNL1 p.Met1017Ile Uncertain significance Single submitter
- CGNL1 p.Phe582Leu Uncertain significance Single submitter
- CGNL1 p.Ser112Asn Uncertain significance Single submitter
- CGNL1 p.Ser1252Phe Uncertain significance Single submitter
- CGNL1 p.Ser1264Asn Likely benign Single submitter
- CGNL1 p.Ser1289Asn Uncertain significance Single submitter
- CGNL1 p.Ser1293Phe Uncertain significance Single submitter
- CGNL1 p.Ser1300Asn Uncertain significance Single submitter
- CGNL1 p.Ser198Tyr Uncertain significance Single submitter
- CGNL1 p.Ser296Phe Uncertain significance Single submitter
- CGNL1 p.Ser308Thr Uncertain significance Single submitter
- CGNL1 p.Ser308Tyr Uncertain significance Single submitter
- CGNL1 p.Ser372Cys Uncertain significance Single submitter
- CGNL1 p.Ser414Ala Uncertain significance Single submitter
- CGNL1 p.Ser68Trp Uncertain significance Single submitter
-
CGNL1 p.Thr341Asn
Uncertain significance
Single submitter
CGNL1-related disorder
- CGNL1 p.Thr620Ile Uncertain significance Single submitter
- CGNL1 p.Thr997Met Uncertain significance Single submitter
- CGNL1 p.Tyr403His Uncertain significance Single submitter
- CGNL1 p.Tyr785Cys Uncertain significance Single submitter
- CGNL1 p.Val222Met Uncertain significance Single submitter
- CGNL1 p.Val440Met Uncertain significance Single submitter
- CGNL1 p.Val634Gly Uncertain significance Single submitter
- CGNL1 p.Val845Asp Uncertain significance Single submitter
-
CGNL1 p.Leu1101Val
Benign
No assertion criteria
CGNL1-related disorder
-
CGNL1 p.Leu848Phe
Likely benign
No assertion criteria
CGNL1-related disorder
-
CGNL1 p.Ser459Phe
Benign
No assertion criteria
CGNL1-related disorder
All CGNL1 variants
Likely pathogenic 1
- p.His774= No assertion criteria
Conflicting classifications of pathogenicity 1
- p.Val440Leu Single submitter ⚠
Benign 9
- p.Asn937= Multiple submitters
- p.Ile1155= Multiple submitters
- c.2054+9T>C Single submitter
- p.Leu1101Val No assertion criteria CGNL1-related disorder ⚠
- p.Met1017Val No assertion criteria CGNL1-related disorder
- p.Pro1263= No assertion criteria CGNL1-related disorder
- p.Ser459Phe No assertion criteria CGNL1-related disorder ⚠
- p.Thr380Pro No assertion criteria CGNL1-related disorder
- p.Thr511Ala No assertion criteria CGNL1-related disorder
Likely benign 27
- p.Thr568Ala Multiple submitters
- p.Ala1299Thr Single submitter
- p.Arg648Lys Single submitter
- p.Arg843Gln Single submitter ⚠
- p.Asn899Ser Single submitter
- p.Gln910Arg Single submitter
- p.His882= Single submitter
- p.Ile1134= Single submitter
- p.Ile114Val Single submitter
- p.Pro120Ser Single submitter
- p.Pro208Leu Single submitter
- p.Pro429Ser Single submitter
- p.Pro485Ser Single submitter
- p.Ser1264Asn Single submitter ⚠
- c.2610+9C>T No assertion criteria CGNL1-related disorder
- c.2716-9C>A No assertion criteria CGNL1-related disorder
- c.3773+8G>T No assertion criteria CGNL1-related disorder
- p.Ala37= No assertion criteria CGNL1-related disorder
- p.Ala596Thr No assertion criteria CGNL1-related disorder
- p.Arg272= No assertion criteria CGNL1-related disorder
- p.Arg843= No assertion criteria CGNL1-related disorder
- p.Gly396Val No assertion criteria CGNL1-related disorder
- p.His322= No assertion criteria CGNL1-related disorder
- p.Ile466Val No assertion criteria CGNL1-related disorder
- p.Leu848Phe No assertion criteria CGNL1-related disorder ⚠
- p.Lys661Arg No assertion criteria CGNL1-related disorder
- p.Tyr15= No assertion criteria CGNL1-related disorder
Uncertain significance 232
- p.Ala109Thr Single submitter ⚠
- p.Ala1156Thr Single submitter ⚠
- p.Ala1156Val Single submitter ⚠
- p.Ala209Thr Single submitter ⚠
- p.Ala306Asp Single submitter ⚠
- p.Ala451Val Single submitter ⚠
- p.Ala502Thr Single submitter ⚠
- p.Ala846Thr Single submitter ⚠
- p.Arg1004Gln Single submitter ⚠
- p.Arg1015Cys Single submitter ⚠
- p.Arg1015Ser Single submitter ⚠
- p.Arg1061Gly Single submitter ⚠
- p.Arg1090Ser Single submitter ⚠
- p.Arg1090Thr Single submitter ⚠
- p.Arg1102Lys Single submitter ⚠
- p.Arg1161Cys Single submitter ⚠
- p.Arg1161His Single submitter ⚠
- p.Arg1167Trp Single submitter ⚠
- p.Arg1177Trp Single submitter ⚠
- p.Arg1178Gln Single submitter ⚠
- p.Arg1178Trp Single submitter ⚠
- p.Arg1207Cys Single submitter ⚠
- p.Arg1207Ser Single submitter ⚠
- p.Arg1213Trp Single submitter ⚠
- p.Arg132Gly Single submitter ⚠
- p.Arg217Cys Single submitter ⚠
- p.Arg369Lys Single submitter ⚠
- p.Arg369Ser Single submitter ⚠
- p.Arg383Lys Single submitter ⚠
- p.Arg420Pro Single submitter ⚠
- p.Arg460Gly Single submitter ⚠
- p.Arg509Leu Single submitter ⚠
- p.Arg509Pro Single submitter ⚠
- p.Arg62Leu Single submitter ⚠
- p.Arg62Pro Single submitter ⚠
- p.Arg648Thr Single submitter ⚠
- p.Arg680Gln Single submitter ⚠
- p.Arg680Trp Single submitter ⚠
- p.Arg693Trp Single submitter ⚠
- p.Arg701Lys Single submitter ⚠
- p.Arg756Pro Single submitter ⚠
- p.Arg843Trp Single submitter ⚠
- p.Arg874Gln Single submitter ⚠
- p.Arg934Ser Single submitter ⚠
- p.Arg965Cys Single submitter ⚠
- p.Asn1171Lys Single submitter ⚠
- p.Asn236Lys Single submitter ⚠
- p.Asn325Thr Single submitter ⚠
- p.Asn561Ser Single submitter ⚠
- p.Asn90Asp Single submitter ⚠
- p.Asp1023Asn Single submitter ⚠
- p.Asp1068Glu Single submitter ⚠
- p.Asp1068Gly Single submitter ⚠
- p.Asp1114Val Single submitter ⚠
- p.Asp1168Tyr Single submitter ⚠
- p.Asp1168Val Single submitter ⚠
- p.Asp1256His Single submitter ⚠
- p.Asp1274Asn Single submitter ⚠
- p.Asp1295Gly Single submitter ⚠
- p.Asp289Val Single submitter ⚠
- p.Asp344Gly Single submitter ⚠
- p.Asp712Asn Single submitter ⚠
- p.Asp722Glu Single submitter ⚠
- p.Asp741Gly Single submitter ⚠
- p.Asp741Tyr Single submitter ⚠
- p.Cys234Gly Single submitter ⚠
- p.Cys234Tyr Single submitter ⚠
- p.Cys456Arg Single submitter ⚠
- p.Gln1107His Single submitter ⚠
- p.Gln1125Glu Single submitter ⚠
- p.Gln1214Arg Single submitter ⚠
- p.Gln1239His Single submitter ⚠
- p.Gln33Lys Single submitter ⚠
- p.Gln362Lys Single submitter ⚠
- p.Gln477Arg Single submitter ⚠
- p.Gln490His Single submitter ⚠
- p.Gln507His Single submitter ⚠
- p.Gln544Arg Single submitter ⚠
- p.Gln549Glu Single submitter ⚠
- p.Gln597Arg Single submitter ⚠
- p.Gln601Glu Single submitter ⚠
- p.Gln817Arg Single submitter ⚠
- p.Gln847His Single submitter ⚠
- p.Gln9His Single submitter ⚠
- p.Glu1039Asp Single submitter ⚠
- p.Glu1108Gly Single submitter ⚠
- p.Glu1165Lys Single submitter ⚠
- p.Glu1166Lys Single submitter ⚠
- p.Glu1226Lys Single submitter ⚠
- p.Glu225Val Single submitter ⚠
- p.Glu248Asp Single submitter ⚠
- p.Glu402Gly Single submitter ⚠
- p.Glu402Val Single submitter ⚠
- p.Glu614Asp Single submitter ⚠
- p.Glu633Gly Single submitter ⚠
- p.Glu676Gly Single submitter ⚠
- p.Glu692Val Single submitter ⚠
- p.Glu777Gln Single submitter ⚠
- p.Glu788Gly Single submitter ⚠
- p.Glu821Gln Single submitter ⚠
- p.Glu839Lys Single submitter ⚠
- p.Glu864Gln Single submitter ⚠
- p.Glu877Lys Single submitter ⚠
- p.Glu970Lys Single submitter ⚠
- p.Gly1280Arg Single submitter ⚠
- p.Gly182Val Single submitter ⚠
- p.Gly348Arg Single submitter ⚠
- p.Gly352Ala Single submitter ⚠
- p.Gly373Arg Single submitter ⚠
- p.Gly41Arg Single submitter ⚠
- p.Gly73Glu Single submitter ⚠
- p.His1135Arg Single submitter ⚠
- p.His1135Tyr Single submitter ⚠
- p.His141Tyr Single submitter ⚠
- p.His87Tyr Single submitter ⚠
- p.Ile1134Thr Single submitter ⚠
- p.Ile1222Met Single submitter ⚠
- p.Ile216Leu Single submitter ⚠
- p.Ile224Thr Single submitter ⚠
- p.Ile345Thr Single submitter ⚠
- p.Ile350Val Single submitter ⚠
- p.Ile357Thr Single submitter ⚠
- p.Ile585Met Single submitter ⚠
- p.Ile873Leu Single submitter ⚠
- p.Ile873Val Single submitter ⚠
- p.Leu1005Met Single submitter ⚠
- p.Leu1038Pro Single submitter ⚠
- p.Leu1086Phe Single submitter ⚠
- p.Leu1179Pro Single submitter ⚠
- p.Leu130Arg Single submitter ⚠
- p.Leu250His Single submitter ⚠
- p.Leu366Pro Single submitter ⚠
- p.Leu418His Single submitter ⚠
- p.Leu487Phe Single submitter ⚠
- p.Leu64Val Single submitter ⚠
- p.Leu679Val Single submitter ⚠
- p.Leu781Pro Single submitter ⚠
- p.Leu908Pro Single submitter ⚠
- p.Leu998Met Single submitter ⚠
- p.Lys1034Thr Single submitter ⚠
- p.Lys1052Glu Single submitter ⚠
- p.Lys1056Arg Single submitter ⚠
- p.Lys1056Ile Single submitter ⚠
- p.Lys1069Asn Single submitter ⚠
- p.Lys1119Glu Single submitter ⚠
- p.Lys1184Arg Single submitter ⚠
- p.Lys1209Thr Single submitter ⚠
- p.Lys133Arg Single submitter ⚠
- p.Lys176Gln Single submitter ⚠
- p.Lys359Asn Single submitter ⚠
- p.Lys492Glu Single submitter ⚠
- p.Lys564Glu Single submitter ⚠
- p.Lys577Glu Single submitter ⚠
- p.Lys584Glu Single submitter ⚠
- p.Lys635Arg Single submitter ⚠
- p.Lys641Glu Single submitter ⚠
- p.Lys755Glu Single submitter ⚠
- p.Lys861Glu Single submitter ⚠
- p.Lys955Asn Single submitter ⚠
- p.Lys996Gln Single submitter ⚠
- p.Met1014Val Single submitter ⚠
- p.Met1017Ile Single submitter ⚠
- p.Met1240Val Single submitter ⚠
- p.Met778Arg Single submitter ⚠
- p.Met778Leu Single submitter ⚠
- p.Phe582Leu Single submitter ⚠
- p.Pro107Ala Single submitter ⚠
- p.Pro111Ser Single submitter ⚠
- p.Pro111Thr Single submitter ⚠
- p.Pro1263Leu Single submitter ⚠
- p.Pro149Ser Single submitter ⚠
- p.Pro169Ala Single submitter ⚠
- p.Pro169Leu Single submitter ⚠
- p.Pro169Thr Single submitter ⚠
- p.Pro266Ala Single submitter ⚠
- p.Pro266Leu Single submitter ⚠
- p.Pro351Arg Single submitter ⚠
- p.Pro462Leu Single submitter ⚠
- p.Pro528Leu Single submitter ⚠
- p.Pro78His Single submitter ⚠
- p.Pro85Ala Single submitter ⚠
- p.Ser1094Thr Single submitter ⚠
- p.Ser112Asn Single submitter ⚠
- p.Ser1252Phe Single submitter ⚠
- p.Ser1289Asn Single submitter ⚠
- p.Ser1293Phe Single submitter ⚠
- p.Ser1300Asn Single submitter ⚠
- p.Ser198Tyr Single submitter ⚠
- p.Ser239Thr Single submitter ⚠
- p.Ser296Phe Single submitter ⚠
- p.Ser308Thr Single submitter ⚠
- p.Ser308Tyr Single submitter ⚠
- p.Ser349Pro Single submitter ⚠
- p.Ser372Cys Single submitter ⚠
- p.Ser414Ala Single submitter ⚠
- p.Ser439Asn Single submitter ⚠
- p.Ser479Thr Single submitter ⚠
- p.Ser68Trp Single submitter ⚠
- p.Ser716Gly Single submitter ⚠
- p.Ser720Leu Single submitter ⚠
- p.Ser810Gly Single submitter ⚠
- p.Ser98Arg Single submitter ⚠
- p.Thr1033Ala Single submitter ⚠
- p.Thr1041Lys Single submitter ⚠
- p.Thr1198Ser Single submitter ⚠
- p.Thr201Asn Single submitter ⚠
- p.Thr258Ser Single submitter ⚠
- p.Thr268Ser Single submitter ⚠
- p.Thr341Asn Single submitter CGNL1-related disorder ⚠
- p.Thr554Ile Single submitter ⚠
- p.Thr60Pro Single submitter ⚠
- p.Thr620Ile Single submitter ⚠
- p.Thr800Asn Single submitter ⚠
- p.Thr820Asn Single submitter ⚠
- p.Thr949Ser Single submitter ⚠
- p.Thr997Met Single submitter ⚠
- p.Tyr403His Single submitter ⚠
- p.Tyr785Cys Single submitter ⚠
- p.Val1298Ile Single submitter ⚠
- p.Val213Ala Single submitter ⚠
- p.Val222Met Single submitter ⚠
- p.Val326Ile Single submitter ⚠
- p.Val42Ile Single submitter ⚠
- p.Val440Met Single submitter ⚠
- p.Val634Gly Single submitter ⚠
- p.Val634Ile Single submitter ⚠
- p.Val805Asp Single submitter ⚠
- p.Val824Leu Single submitter ⚠
- p.Val824Met Single submitter ⚠
- p.Val845Asp Single submitter ⚠
- p.Val961Ala Single submitter ⚠
- p.Pro154Thr No assertion criteria CGNL1-related disorder ⚠