Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000322.4(PRPH2):c.828+3A>T | 5961 | PRPH2 | Pathogenic | 281865373 | RCV000175582; RCV000085026; | N | MedGen:C1842475,OMIM:608133; MedGen:CN221809 | 6 | 42672100 | 42672100 | NM_000322.4:c.828+3A>T | | NC_000006.11:g.42672100T>A | - | CN221809 not provided; C1842475 608133 Retinitis pigmentosa 7 | | |
NM_000322.4(PRPH2):c.732C>A (p.Asn244Lys) | 5961 | PRPH2 | Pathogenic | 61755816 | RCV000014058; RCV000085017; | N | MedGen:C1842475,OMIM:608133; MedGen:CN221809 | 6 | 42672199 | 42672199 | NM_000322.4:c.732C>A | NP_000313.2:p.Asn244Lys | NC_000006.11:g.42672199G>C,NC_000006.11:g.42672199G>T | OMIM Allelic Variant:179605.0011 | CN221809 not provided; C1842475 608133 Retinitis pigmentosa 7 | | |
NM_000322.4(PRPH2):c.656_658delCAC (p.Pro219del) | 5961 | PRPH2 | Pathogenic | 61755807 | RCV000014049; RCV000085009; | N | MedGen:C1842475,OMIM:608133; MedGen:CN221809 | 6 | 42672273 | 42672275 | NM_000322.4:c.656_658delCAC | NP_000313.2:p.Pro219del | NC_000006.11:g.42672273_42672275delGTG | OMIM Allelic Variant:179605.0002 | CN221809 not provided; C1842475 608133 Retinitis pigmentosa 7 | | |
NM_000322.4(PRPH2):c.647C>T (p.Pro216Leu) | 5961 | PRPH2 | Pathogenic | 61755806 | RCV000014050; RCV000085007; | N | MedGen:C1842475,OMIM:608133; MedGen:CN221809 | 6 | 42672284 | 42672284 | NM_000322.4:c.647C>T | NP_000313.2:p.Pro216Leu | NC_000006.11:g.42672284G>A | OMIM Allelic Variant:179605.0003 | CN221809 not provided; C1842475 608133 Retinitis pigmentosa 7 | | |
NM_000322.4(PRPH2):c.518A>T (p.Asp173Val) | 5961 | PRPH2 | Pathogenic | 61755794 | RCV000014069; RCV000084983; | N | MedGen:C1842475,OMIM:608133; MedGen:CN221809 | 6 | 42689555 | 42689555 | NM_000322.4:c.518A>T | NP_000313.2:p.Asp173Val | NC_000006.11:g.42689555T>A | OMIM Allelic Variant:179605.0020 | CN221809 not provided; C1842475 608133 Retinitis pigmentosa 7 | | |
NM_000322.4(PRPH2):c.461_463delAGA (p.Lys154del) | 5961 | PRPH2 | Pathogenic | 61755786 | RCV000014064; RCV000149467; RCV000084974; | N | MedGen:C1842475,OMIM:608133; MedGen:C1868569,OMIM:169150,ORPHA:63454; MedGen:CN221809 | 6 | 42689610 | 42689612 | NM_000322.4:c.461_463delAGA | NP_000313.2:p.Lys154del | NC_000006.11:g.42689610_42689612delTCT | OMIM Allelic Variant:179605.0017 | CN221809 not provided; C1868569 169150 Patterned dystrophy of retinal pigment epithelium; C1842475 608133 Retinitis pigmentosa 7 | | |
NM_000322.4(PRPH2):c.356_358delGCT (p.Cys119del) | 5961 | PRPH2 | Pathogenic | 61755777 | RCV000014048; RCV000084963; | N | MedGen:C1842475,OMIM:608133; MedGen:CN221809 | 6 | 42689715 | 42689717 | NM_000322.4:c.356_358delGCT | NP_000313.2:p.Cys119del | NC_000006.11:g.42689715_42689717delAGC | OMIM Allelic Variant:179605.0001 | CN221809 not provided; C1842475 608133 Retinitis pigmentosa 7 | | |
NM_000322.4(PRPH2):c.136C>T (p.Arg46Ter) | 5961 | PRPH2 | Pathogenic | 61755771 | RCV000014067; RCV000084955; | N | MedGen:C1842475,OMIM:608133; MedGen:CN221809 | 6 | 42689937 | 42689937 | NM_000322.4:c.136C>T | NP_000313.2:p.Arg46Ter | NC_000006.11:g.42689937G>A | OMIM Allelic Variant:179605.0018 | CN221809 not provided; C1842475 608133 Retinitis pigmentosa 7 | | |