Total 30 pathogenic variants reported for Exudative vitreoretinopathy 1 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln) SNV
Germline		 Chr11:86951506 Pathogenic Exudative vitreoretinopathy, digenic
Exudative vitreoretinopathy 1
Condition: not provided		 Criteria Provided
Single Submitter
 CA117551 rs_80358294

2 SubmittersRCV000005821RCV000005820RCV006461106
NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys) SNV
Germline		 Chr11:86951751 Pathogenic Exudative vitreoretinopathy 1 No Assertion Criteria Provided
 CA253503 rs_80358292

1 SubmittersRCV000005823
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) SNV
Germline		 Chr11:68389949 Pathogenic/Likely pathogenic Osteoporosis with pseudoglioma
Condition: not provided
Exudative vitreoretinopathy 1
LRP5-related disorder
6 conditions		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118089 rs_121908664

6 SubmittersRCV000006652RCV000414333RCV002247255RCV004742219RCV005003340
NM_012193.4(FZD4):c.205C>T (p.His69Tyr) SNV
Germline		 Chr11:86954881 Conflicting classifications of pathogenicity Condition: not provided
not specified
Exudative vitreoretinopathy 1
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA232846 rs_80358282

6 SubmittersRCV000132666RCV000596583RCV000988622RCV004815200
NM_012193.4(FZD4):c.313A>G (p.Met105Val) SNV
Germline		 Chr11:86952443 Pathogenic Coats disease
Familial exudative vitreoretinopathy
Condition: not provided
Exudative vitreoretinopathy 1
Familial exudative vitreoretinopathy
Atrophia bulborum hereditaria
Retinal dystrophy
FZD4-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA351365 rs_80358284

10 SubmittersRCV000210241RCV000255410RCV000763285RCV000825614RCV001002698RCV001073502RCV003907780
NM_012193.4(FZD4):c.1517A>G (p.Lys506Arg) SNV
Germline		 Chr11:86951239 Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA6218308 rs_769786110

2 SubmittersRCV000354677RCV002522214
NM_012193.4(FZD4):c.1589G>A (p.Gly530Glu) SNV
Germline		 Chr11:86951167 Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA6218288 rs_201256460

3 SubmittersRCV000393599RCV001468491RCV002248515
NM_012193.4(FZD4):c.1009C>A (p.His337Asn) SNV
Germline		 Chr11:86951747 Conflicting classifications of pathogenicity Condition: not provided
Exudative vitreoretinopathy 1
Inborn genetic diseases		 Criteria Provided
Conflicting Classifications
 CA6218391 rs_146895719

4 SubmittersRCV000593538RCV001111580RCV005338260
NM_002335.4(LRP5):c.3232C>T (p.Arg1078Ter) SNV
Germline		 Chr11:68423693 Pathogenic Inborn genetic diseases
Retinal dystrophy
Condition: not provided
Exudative vitreoretinopathy 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381620985 rs_765402802

4 SubmittersRCV000623147RCV001073522RCV001855293RCV005252998
NM_012193.4(FZD4):c.76C>A (p.Gln26Lys) SNV
Germline		 Chr11:86955010 Conflicting classifications of pathogenicity Condition: not provided
Exudative vitreoretinopathy 1		 Criteria Provided
Conflicting Classifications
 CA6218537 rs_140601725

2 SubmittersRCV001037988RCV001112059
NM_012193.4(FZD4):c.379C>T (p.Arg127Cys) SNV
Germline		 Chr11:86952377 Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1
Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA6218465 rs_376854255

3 SubmittersRCV001111581RCV001209730RCV004813777
NM_012193.4(FZD4):c.84G>C (p.Leu28=) SNV
Germline		 Chr11:86955002 Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA476144988 rs_1280981405

2 SubmittersRCV001111582RCV002069800
NM_002335.4(LRP5):c.1412+1G>A SNV
Germline		 Chr11:68386713 Pathogenic Exudative vitreoretinopathy 1
Condition: not provided
Malignant tumor of esophagus		 Criteria Provided
Multiple Submitters
No Conflicts
 CA381612888 rs_2098643283

3 SubmittersRCV001270175RCV001863067RCV005908936
NM_002335.4(LRP5):c.2585A>T (p.Asp862Val) SNV
Germline		 Chr11:68413770 Likely pathogenic Exudative vitreoretinopathy 1 Criteria Provided
Single Submitter
 CA381618401 rs_2098660903

1 SubmittersRCV001270176
NM_012193.4(FZD4):c.964A>T (p.Ile322Phe) SNV
Germline		 Chr11:86951792 Likely pathogenic Exudative vitreoretinopathy 1 Criteria Provided
Single Submitter
 CA382013724 rs_1408259285

1 SubmittersRCV001270177
NM_012193.4(FZD4):c.1477A>G (p.Met493Val) SNV
Germline		 Chr11:86951279 Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA225380412 rs_1050752347

2 SubmittersRCV001198878RCV002560257
NM_012193.4(FZD4):c.173A>G (p.Tyr58Cys) SNV
Germline		 Chr11:86954913 Pathogenic Exudative vitreoretinopathy 1 Criteria Provided
Single Submitter
 CA382018357 rs_2495874344

1 SubmittersRCV002470362
NM_012193.4(FZD4):c.740G>A (p.Arg247Lys) SNV
Germline		 Chr11:86952016 Likely pathogenic Exudative vitreoretinopathy 1 Criteria Provided
Single Submitter
 CA382014617 rs_2495867722

1 SubmittersRCV003313732
NM_012193.4(FZD4):c.1051G>C (p.Ala351Pro) SNV
Germline		 Chr11:86951705 Likely pathogenic Exudative vitreoretinopathy 1 Criteria Provided
Single Submitter

1 SubmittersRCV004797446
NM_012193.4(FZD4):c.1512G>A (p.Trp504Ter) SNV
Germline		 Chr11:86951244 Likely pathogenic Exudative vitreoretinopathy 1 Criteria Provided
Single Submitter

1 SubmittersRCV005880991