Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_016346.3(NR2E3):c.119-2A>C | 10002 | NR2E3 | Likely pathogenic;Pathogenic | 2723341 | RCV000185571; RCV000171236; | N | MedGen:C1970163,OMIM:611131; MedGen:CN221809 | 15 | 72103821 | 72103821 | NM_016346.3:c.119-2A>C | | NC_000015.9:g.72103821A>C | - | CN221809 not provided; C1970163 611131 Retinitis pigmentosa 37 | | |
NM_014249.3(NR2E3):c.143_144delGCinsAGTGTGCCTCCAGTGCCTCGCTCCA (p.Arg48Glnfs) | 10002 | NR2E3 | Pathogenic | 730882149 | RCV000162027; | N | MedGen:C1970163,OMIM:611131 | 15 | 72103847 | 72103848 | NM_014249.3:c.143_144delGCinsAGTGTGCCTCCAGTGCCTCGCTCCA | NP_055064.1:p.Arg48Glnfs | NC_000015.9:g.72103847_72103848delGCinsAGTGTGCCTCCAGTGCCTCGCTCCA | OMIM Allelic Variant:604485.0008 | C1970163 611131 Retinitis pigmentosa 37 | | |
NM_014249.3(NR2E3):c.166G>A (p.Gly56Arg) | 10002 | NR2E3 | Likely pathogenic;Pathogenic | 121912631 | RCV000005871; | N | MedGen:C1970163,OMIM:611131 | 15 | 72103870 | 72103870 | NM_014249.3:c.166G>A | NP_055064.1:p.Gly56Arg | NC_000015.9:g.72103870G>A | OMIM Allelic Variant:604485.0006 | C1970163 611131 Retinitis pigmentosa 37 | | |