Total 11 pathogenic variants reported for Doyne honeycomb retinal dystrophy 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001039348.3(EFEMP1):c.1033C>T (p.Arg345Trp) SNV
Germline
Chr2:55871091 Pathogenic/Likely pathogenic Condition: not provided
Doyne honeycomb retinal dystrophy
Retinal dystrophy
Criteria Provided
Multiple Submitters
No Conflicts
CA119276 rs_121434491

8 SubmittersRCV000726861RCV000008539RCV001074275

NM_000322.5(PRPH2):c.828+3A>T SNV
Germline
Chr6:42704362 Pathogenic Condition: not provided
Retinitis pigmentosa
Doyne honeycomb retinal dystrophy
PRPH2-related disorder
Retinal dystrophy
Choroideremia
Cone-rod dystrophy
Patterned dystrophy of the retinal pigment epithelium
Vitelliform macular dystrophy 2
Stargardt disease
Patterned macular dystrophy 1
Criteria Provided
Multiple Submitters
No Conflicts
CA226319 rs_281865373

10 SubmittersRCV000085026RCV001250357RCV001250358RCV001047656RCV001073686RCV001250345RCV001250359RCV001250346RCV001250347RCV001250344RCV001542666

NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=) SNV
Germline
Chr2:55867142 Conflicting classifications of pathogenicity Condition: not provided
Doyne honeycomb retinal dystrophy
Criteria Provided
Conflicting Classifications
CA239784 rs_374690853

3 SubmittersRCV000174269RCV000396551

NM_001039348.3(EFEMP1):c.418C>T (p.Arg140Trp) SNV
Germline
Chr2:55917764 Conflicting classifications of pathogenicity Condition: not provided
Doyne honeycomb retinal dystrophy
Retinal dystrophy
Glaucoma 1, open angle, H
Criteria Provided
Conflicting Classifications
CA245997 rs_756065296

6 SubmittersRCV000724508RCV003144148RCV001075193RCV003891742

NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala) SNV
Germline
Chr2:55918036 Conflicting classifications of pathogenicity Doyne honeycomb retinal dystrophy
Condition: not provided
EFEMP1-related disorder
Criteria Provided
Conflicting Classifications
CA1668987 rs_55849640

5 SubmittersRCV000291317RCV000293250RCV004755839

NM_001039348.3(EFEMP1):c.134T>C (p.Ile45Thr) SNV
Germline
Chr2:55918048 Conflicting classifications of pathogenicity Doyne honeycomb retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1668989 rs_746396165

2 SubmittersRCV000320736RCV001368664

NM_001039348.3(EFEMP1):c.1062T>C (p.His354=) SNV
Germline
Chr2:55871062 Conflicting classifications of pathogenicity Condition: not provided
Doyne honeycomb retinal dystrophy
Criteria Provided
Conflicting Classifications
CA426226786 rs_1208704909

2 SubmittersRCV001414636RCV001137235

NM_001039348.3(EFEMP1):c.401G>A (p.Arg134Gln) SNV
Germline
Chr2:55917781 Conflicting classifications of pathogenicity Doyne honeycomb retinal dystrophy
Condition: not provided
Inborn genetic diseases
Criteria Provided
Conflicting Classifications
CA1668950 rs_748310171

3 SubmittersRCV001139483RCV001370558RCV004032332

NM_001039348.3(EFEMP1):c.195T>C (p.Tyr65=) SNV
Germline
Chr2:55917987 Conflicting classifications of pathogenicity Doyne honeycomb retinal dystrophy
Condition: not provided
Criteria Provided
Conflicting Classifications
CA1668982 rs_142572513

2 SubmittersRCV001139484RCV003660855

NM_001039348.3(EFEMP1):c.525C>T (p.Asp175=) SNV
Germline
Chr2:55881727 Conflicting classifications of pathogenicity Condition: not provided
Doyne honeycomb retinal dystrophy
Criteria Provided
Conflicting Classifications
CA1668908 rs_151171192

2 SubmittersRCV002646861RCV003146601