Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000554.4(CRX):c.121C>T (p.Arg41Trp) | 1406 | CRX | Pathogenic | 104894672 | RCV000007843; RCV000085989; | N | MedGen:CN074280,OMIM:120970; MedGen:CN221809 | 19 | 48339520 | 48339520 | NM_000554.4:c.121C>T | NP_000545.1:p.Arg41Trp | NC_000019.9:g.48339520C>T | OMIM Allelic Variant:602225.0005 | CN074280 120970 Cone-rod dystrophy 2; CN221809 not provided | | |
NM_000554.4(CRX):c.122G>A (p.Arg41Gln) | 1406 | CRX | Pathogenic | 61748436 | RCV000007846; RCV000085990; | N | MedGen:CN074280,OMIM:120970; MedGen:CN221809 | 19 | 48339521 | 48339521 | NM_000554.4:c.122G>A | NP_000545.1:p.Arg41Gln | NC_000019.9:g.48339521G>A | OMIM Allelic Variant:602225.0006 | CN074280 120970 Cone-rod dystrophy 2; CN221809 not provided | | |
NM_000554.4(CRX):c.239A>C (p.Glu80Ala) | 1406 | CRX | Pathogenic | 104894671 | RCV000007841; RCV000085995; | N | MedGen:CN074280,OMIM:120970; MedGen:CN221809 | 19 | 48339638 | 48339638 | NM_000554.4:c.239A>C | NP_000545.1:p.Glu80Ala | NC_000019.9:g.48339638A>C | OMIM Allelic Variant:602225.0001 | CN074280 120970 Cone-rod dystrophy 2; CN221809 not provided | | |
NM_006017.2(PROM1):c.2077-521A>G | 8842 | PROM1 | Pathogenic | 796051882 | RCV000186496; | N | MedGen:CN074280,OMIM:120970 | 4 | 15989860 | 15989860 | NM_006017.2:c.2077-521A>G | | NC_000004.11:g.15989860T>C | - | CN074280 120970 Cone-rod dystrophy 2 | | |