A total 14 pathogenic variants reported in gene retinal G protein coupled receptor (RGR)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg) SNV
Germline		 Chr10:84247707 Conflicting classifications of pathogenicity Retinitis pigmentosa 44
Condition: not provided
Cone dystrophy
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA241383 rs_104894187

8 SubmittersRCV000009759RCV000175649RCV000626831RCV004814868
NM_001012720.2(RGR):c.318T>C (p.Ser106=) SNV
Germline		 Chr10:84249003 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA180388 rs_143761967

5 SubmittersRCV000153836RCV000362368RCV000954958
NM_001012720.2(RGR):c.744+5A>G SNV
Germline		 Chr10:84258011 Conflicting classifications of pathogenicity not specified
Retinitis pigmentosa
Retinitis pigmentosa 44
Condition: not provided
RGR-related disorder
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA180391 rs_143720091

9 SubmittersRCV000153837RCV000375563RCV001001658RCV000963256RCV003917508RCV004815232
NM_001012720.2(RGR):c.385G>A (p.Val129Ile) SNV
Germline		 Chr10:84252883 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA245165 rs_138630905

5 SubmittersRCV001107344RCV000723603RCV005712134
NM_001012720.2(RGR):c.236G>A (p.Arg79Gln) SNV
Germline		 Chr10:84247747 Conflicting classifications of pathogenicity Condition: not provided
Retinitis pigmentosa 44		 Criteria Provided
Conflicting Classifications
 CA5581335 rs_761554381

2 SubmittersRCV001043934RCV001352959
NM_001012720.2(RGR):c.612G>A (p.Gly204=) SNV
Germline		 Chr10:84254425 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5581505 rs_749839913

2 SubmittersRCV001107995RCV001462767
NM_001012720.2(RGR):c.666C>T (p.Leu222=) SNV
Germline		 Chr10:84257928 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA5581540 rs_575867273

3 SubmittersRCV001107996RCV001490153RCV003890252
NM_001012720.2(RGR):c.750C>A (p.Pro250=) SNV
Germline		 Chr10:84258513 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5581580 rs_748553756

2 SubmittersRCV001102768RCV001448160
NM_001012720.2(RGR):c.745-13T>C SNV
Germline		 Chr10:84258495 Conflicting classifications of pathogenicity Retinitis pigmentosa
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5581572 rs_760426665

2 SubmittersRCV001102767RCV002067775
NM_001012720.2(RGR):c.685A>C (p.Ile229Leu) SNV
Germline		 Chr10:84257947 Conflicting classifications of pathogenicity Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA5581544 rs_540094720

2 SubmittersRCV001205803RCV004659388
NM_001012720.2(RGR):c.135G>A (p.Pro45=) SNV
Germline		 Chr10:84247646 Conflicting classifications of pathogenicity Condition: not provided
Retinal dystrophy		 Criteria Provided
Conflicting Classifications
 CA5581313 rs_753086873

2 SubmittersRCV003821337RCV003889346