Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_020366.3(RPGRIP1):c.154C>T (p.Arg52Ter) | 57096 | RPGRIP1 | Pathogenic | 192003551 | RCV000175918; | N | MedGen:C2750720,OMIM:608194 | 14 | 21762904 | 21762904 | NM_020366.3:c.154C>T | NP_065099.3:p.Arg52Ter | NC_000014.8:g.21762904C>T | - | C2750720 608194 Cone-rod dystrophy 13 | | |
NM_020366.3(RPGRIP1):c.1639G>T (p.Ala547Ser) | 57096 | RPGRIP1 | Benign;Pathogenic | 10151259 | RCV000005275; RCV000086240; RCV000174586; | N | MedGen:C2750720,OMIM:608194; MedGen:CN169374; MedGen:CN221809 | 14 | 21790040 | 21790040 | NM_020366.3:c.1639G>T | NP_065099.3:p.Ala547Ser | NC_000014.8:g.21790040G>T | OMIM Allelic Variant:605446.0006 | C2750720 608194 Cone-rod dystrophy 13; CN221809 not provided; CN169374 not specified | | |
NM_020366.3(RPGRIP1):c.2480G>T (p.Arg827Leu) | 57096 | RPGRIP1 | Pathogenic | 28937883 | RCV000005274; RCV000086245; | N | MedGen:C2750720,OMIM:608194; MedGen:CN221809 | 14 | 21794102 | 21794102 | NM_020366.3:c.2480G>T | NP_065099.3:p.Arg827Leu | NC_000014.8:g.21794102G>T | OMIM Allelic Variant:605446.0005 | C2750720 608194 Cone-rod dystrophy 13; CN221809 not provided | | |
NM_020366.3(RPGRIP1):c.2896delG (p.Asp966Ilefs) | 57096 | RPGRIP1 | Likely pathogenic | 863224913 | RCV000195884; | N | MedGen:C2750720,OMIM:608194 | 14 | 21796583 | 21796583 | NM_020366.3:c.2896delG | NP_065099.3:p.Asp966Ilefs | NC_000014.8:g.21796583delG | - | C2750720 608194 Cone-rod dystrophy 13 | | |
NM_020366.3(RPGRIP1):c.3749-2A>G | 57096 | RPGRIP1 | Pathogenic | 376517859 | RCV000176499; | N | MedGen:C2750720,OMIM:608194 | 14 | 21819261 | 21819261 | NM_020366.3:c.3749-2A>G | | NC_000014.8:g.21819261A>G | - | C2750720 608194 Cone-rod dystrophy 13 | | |