Total 35 pathogenic variants reported for Congenital primary aphakia 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_012186.3(FOXE3):c.720C>A (p.Cys240Ter) SNV
Germline		 Chr1:47417035 Pathogenic Congenital primary aphakia
Condition: not provided
Anterior segment dysgenesis		 Criteria Provided
Multiple Submitters
No Conflicts
 CA119630 rs_80358194

7 SubmittersRCV000008963RCV000255267RCV001200038
NM_012186.3(FOXE3):c.959G>T (p.Ter320Leu) SNV
Germline		 Chr1:47417274 Pathogenic Congenital primary aphakia No Assertion Criteria Provided
 CA128991 rs_387906793

1 SubmittersRCV000023071
NM_012186.3(FOXE3):c.834C>T (p.Pro278=) SNV
Germline		 Chr1:47417149 Conflicting classifications of pathogenicity Condition: not provided
Congenital primary aphakia
Anterior segment dysgenesis
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA10604352 rs_886042525

3 SubmittersRCV000390108RCV001087380RCV002436100
NM_012186.3(FOXE3):c.457G>C (p.Asp153His) SNV
Germline		 Chr1:47416772 Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 11, susceptibility to
Acute aortic dissection
Congenital aneurysm of ascending aorta
Cardiovascular phenotype
Anterior segment dysgenesis
Congenital primary aphakia		 Criteria Provided
Conflicting Classifications
 CA16044411 rs_367943249

4 SubmittersRCV000417170RCV000755150RCV002338979RCV001861471
NM_012186.3(FOXE3):c.431A>G (p.Tyr144Cys) SNV
Germline		 Chr1:47416746 Conflicting classifications of pathogenicity Condition: not provided
Congenital primary aphakia
Anterior segment dysgenesis		 Criteria Provided
Conflicting Classifications
 CA842967 rs_747148416

2 SubmittersRCV000439291RCV001861538
NM_012186.3(FOXE3):c.232G>A (p.Ala78Thr) SNV
Germline		 Chr1:47416547 Conflicting classifications of pathogenicity Congenital primary aphakia
Congenital primary aphakia
Anterior segment dysgenesis
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA842917 rs_377669670

5 SubmittersRCV000521849RCV001062090RCV004023273RCV003736793
NM_012186.3(FOXE3):c.310C>T (p.Arg104Cys) SNV
Germline		 Chr1:47416625 Conflicting classifications of pathogenicity Congenital primary aphakia
Congenital primary aphakia
Anterior segment dysgenesis		 Criteria Provided
Conflicting Classifications
 CA340249497 rs_755377651

2 SubmittersRCV000523691RCV003766755
NM_012186.3(FOXE3):c.527C>T (p.Ala176Val) SNV
Germline		 Chr1:47416842 Conflicting classifications of pathogenicity Anterior segment dysgenesis
Congenital primary aphakia
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 rs_201955081

4 SubmittersRCV000797801RCV001172214RCV002345765
NM_012186.3(FOXE3):c.244A>G (p.Met82Val) SNV
Germline		 Chr1:47416559 Pathogenic/Likely pathogenic Congenital primary aphakia
Condition: not provided
Congenital primary aphakia
Anterior segment dysgenesis
Cataract 34 multiple types
FOXE3-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_746531116

7 SubmittersRCV000826107RCV001092681RCV001386842RCV003492182RCV003413666
NM_012186.3(FOXE3):c.291C>G (p.Ile97Met) SNV
Germline		 Chr1:47416606 Pathogenic Congenital primary aphakia
Anterior segment dysgenesis
Congenital primary aphakia		 Criteria Provided
Single Submitter
 rs_762006562

2 SubmittersRCV001203942RCV001391236
NM_012186.3(FOXE3):c.619G>A (p.Gly207Arg) SNV
Germline		 Chr1:47416934 Conflicting classifications of pathogenicity Congenital primary aphakia
Anterior segment dysgenesis
Cardiovascular phenotype
Familial thoracic aortic aneurysm and aortic dissection		 Criteria Provided
Conflicting Classifications
 rs_560327746

3 SubmittersRCV001208683RCV002365937RCV003485688
NM_012186.3(FOXE3):c.289A>G (p.Ile97Val) SNV
Germline		 Chr1:47416604 Likely pathogenic Congenital primary aphakia Criteria Provided
Single Submitter
 rs_774505755

3 SubmittersRCV001267882
NM_012186.3(FOXE3):c.286G>A (p.Ala96Thr) SNV
Germline		 Chr1:47416601 Likely pathogenic Congenital primary aphakia No Assertion Criteria Provided
 rs_2124042297

1 SubmittersRCV001391234
NM_012186.3(FOXE3):c.359G>C (p.Arg120Pro) SNV
Germline		 Chr1:47416674 Likely pathogenic Congenital primary aphakia No Assertion Criteria Provided
 rs_772347736

1 SubmittersRCV001391237
NM_012186.3(FOXE3):c.632C>A (p.Ser211Ter) SNV
Germline		 Chr1:47416947 Pathogenic/Likely pathogenic Congenital primary aphakia
Anterior segment dysgenesis
Congenital primary aphakia		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_1035206433

2 SubmittersRCV001930870RCV004017883
NM_012186.3(FOXE3):c.387C>G (p.Phe129Leu) SNV
Germline		 Chr1:47416702 Likely pathogenic Congenital primary aphakia
Anterior segment dysgenesis		 Criteria Provided
Single Submitter
 rs_2124042660

1 SubmittersRCV001921609
NM_012186.3(FOXE3):c.388G>T (p.Val130Phe) SNV
Germline		 Chr1:47416703 Likely pathogenic Congenital primary aphakia No Assertion Criteria Provided

1 SubmittersRCV002291177
NM_012186.3(FOXE3):c.498C>A (p.Arg166=) SNV
Germline		 Chr1:47416813 Conflicting classifications of pathogenicity Cardiovascular phenotype
Congenital primary aphakia
Anterior segment dysgenesis		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV002342925RCV003776008
NM_012186.3(FOXE3):c.145G>T (p.Gly49Ter) SNV
Germline		 Chr1:47416460 Pathogenic Congenital primary aphakia
Anterior segment dysgenesis		 Criteria Provided
Single Submitter

1 SubmittersRCV003005444
NM_012186.3(FOXE3):c.706G>T (p.Glu236Ter) SNV
Germline		 Chr1:47417021 Pathogenic Congenital primary aphakia
Anterior segment dysgenesis		 Criteria Provided
Single Submitter

1 SubmittersRCV003801268
NM_012186.3(FOXE3):c.222C>G (p.Tyr74Ter) SNV
Germline		 Chr1:47416537 Pathogenic Congenital primary aphakia
Anterior segment dysgenesis		 Criteria Provided
Single Submitter

1 SubmittersRCV003812726