Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000329.2(RPE65):c.1543C>T (p.Arg515Trp) | 6121 | RPE65 | Pathogenic | 121917745 | RCV000014000; RCV000013999; RCV000132583; RCV000085176; | N | MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1859844,OMIM:204100; MedGen:C3151086,OMIM:613794; MedGen:CN221809 | 1 | 68895518 | 68895518 | NM_000329.2:c.1543C>T | NP_000320.1:p.Arg515Trp | NC_000001.10:g.68895518G>A | OMIM Allelic Variant:180069.0008 | C1859844 204100 Leber congenital amaurosis 2; CN221809 not provided; C0035334 268000 Retinitis pigmentosa; C3151086 613794 Retinitis pigmentosa 20 | | |
NM_000329.2(RPE65):c.1355T>G (p.Val452Gly) | 6121 | RPE65 | Pathogenic | 62637004 | RCV000013995; RCV000085169; | N | MedGen:C3151086,OMIM:613794; MedGen:CN221809 | 1 | 68896843 | 68896843 | NM_000329.2:c.1355T>G | NP_000320.1:p.Val452Gly | NC_000001.10:g.68896843A>C | OMIM Allelic Variant:180069.0007 | CN221809 not provided; C3151086 613794 Retinitis pigmentosa 20 | | |
NM_000329.2(RPE65):c.1102T>C (p.Tyr368His) | 6121 | RPE65 | Pathogenic | 62653011 | RCV000022750; RCV000022749; RCV000085150; | N | MedGen:C1859844,OMIM:204100; MedGen:C3151086,OMIM:613794; MedGen:CN221809 | 1 | 68903896 | 68903896 | NM_000329.2:c.1102T>C | NP_000320.1:p.Tyr368His | NC_000001.10:g.68903896A>G | OMIM Allelic Variant:180069.0009 | C1859844 204100 Leber congenital amaurosis 2; CN221809 not provided; C3151086 613794 Retinitis pigmentosa 20 | | |
NM_000329.2(RPE65):c.1087C>A (p.Pro363Thr) | 6121 | RPE65 | Pathogenic | 121917744 | RCV000013996; | N | MedGen:C3151086,OMIM:613794 | 1 | 68903911 | 68903911 | NM_000329.2:c.1087C>A | NP_000320.1:p.Pro363Thr | NC_000001.10:g.68903911G>T | OMIM Allelic Variant:180069.0003 | C3151086 613794 Retinitis pigmentosa 20 | | |
NM_000329.2(RPE65):c.1022T>C (p.Leu341Ser) | 6121 | RPE65 | Pathogenic | 61752909 | RCV000013997; RCV000085141; | N | MedGen:C3151086,OMIM:613794; MedGen:CN221809 | 1 | 68903976 | 68903976 | NM_000329.2:c.1022T>C | NP_000320.1:p.Leu341Ser | NC_000001.10:g.68903976A>G | OMIM Allelic Variant:180069.0004 | CN221809 not provided; C3151086 613794 Retinitis pigmentosa 20 | | |
NM_000329.2(RPE65):c.394G>A (p.Ala132Thr) | 6121 | RPE65 | Pathogenic | 61752878 | RCV000013998; RCV000085196; | N | MedGen:C3151086,OMIM:613794; MedGen:CN221809 | 1 | 68910315 | 68910315 | NM_000329.2:c.394G>A | NP_000320.1:p.Ala132Thr | NC_000001.10:g.68910315C>T | OMIM Allelic Variant:180069.0005 | CN221809 not provided; C3151086 613794 Retinitis pigmentosa 20 | | |
NM_000329.2(RPE65):c.271C>T (p.Arg91Trp) | 6121 | RPE65 | Pathogenic | 61752871 | RCV000013994; RCV000085184; | N | MedGen:C3151086,OMIM:613794; MedGen:CN221809 | 1 | 68910541 | 68910541 | NM_000329.2:c.271C>T | NP_000320.1:p.Arg91Trp | NC_000001.10:g.68910541G>A | OMIM Allelic Variant:180069.0006 | CN221809 not provided; C3151086 613794 Retinitis pigmentosa 20 | | |