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 SubmittersRCV000726861 RCV000008539 RCV001074275
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 SubmittersRCV000085026 RCV001250357 RCV001250358 RCV001047656 RCV001073686 RCV001250345 RCV001250359 RCV001250346 RCV001250347 RCV001250344 RCV001542666
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 SubmittersRCV000174269 RCV000396551
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 SubmittersRCV000724508 RCV003144148 RCV001075193 RCV003891742
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 SubmittersRCV000291317 RCV000293250 RCV004755839
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 SubmittersRCV000320736 RCV001368664
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 SubmittersRCV001414636 RCV001137235
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 SubmittersRCV001139483 RCV001370558 RCV004032332
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 SubmittersRCV001139484 RCV003660855
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 SubmittersRCV002646861 RCV003146601