Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000929.2(PLA2G5):c.133G>T (p.Gly45Cys) | 5322 | PLA2G5 | Affects | 387906795 | RCV000023076; | N | MedGen:C1856718,OMIM:228980,ORPHA:363989 | 1 | 20412668 | 20412668 | NM_000929.2:c.133G>T | NP_000920.1:p.Gly45Cys | NC_000001.10:g.20412668G>T | OMIM Allelic Variant:601192.0001 | C1856718 228980 Fleck retina, familial benign | | |
NM_000929.2(PLA2G5):c.145G>A (p.Gly49Ser) | 5322 | PLA2G5 | Affects | 387906796 | RCV000023078; | N | MedGen:C1856718,OMIM:228980,ORPHA:363989 | 1 | 20412680 | 20412680 | NM_000929.2:c.145G>A | NP_000920.1:p.Gly49Ser | NC_000001.10:g.20412680G>A | OMIM Allelic Variant:601192.0003 | C1856718 228980 Fleck retina, familial benign | | |
NM_000929.2(PLA2G5):c.157C>T (p.Arg53Ter) | 5322 | PLA2G5 | Affects | 200954922 | RCV000023079; | N | MedGen:C1856718,OMIM:228980,ORPHA:363989 | 1 | 20412692 | 20412692 | NM_000929.2:c.157C>T | NP_000920.1:p.Arg53Ter | NC_000001.10:g.20412692C>T | OMIM Allelic Variant:601192.0004 | C1856718 228980 Fleck retina, familial benign | | |