Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000350.2(ABCA4):c.5714+5G>A | 24 | ABCA4 | Pathogenic | 61751407 | RCV000210321; RCV000210303; RCV000085757; | N | MedGen:C1855465,OMIM:248200; MedGen:C1866422,OMIM:601718; MedGen:CN221809 | 1 | 94476351 | 94476351 | NM_000350.2:c.5714+5G>A | | NC_000001.10:g.94476351C>T | - | CN221809 not provided; C1866422 601718 Retinitis pigmentosa 19; C1855465 248200 Stargardt disease 1 | | |
NM_000350.2(ABCA4):c.4577C>T (p.Thr1526Met) | 24 | ABCA4 | Likely pathogenic;Pathogenic | 61750152 | RCV000177509; RCV000210286; RCV000085656; | N | MedGen:C1855465,OMIM:248200; MedGen:C1866422,OMIM:601718; MedGen:CN221809 | 1 | 94490567 | 94490567 | NM_000350.2:c.4577C>T | NP_000341.2:p.Thr1526Met | NC_000001.10:g.94490567G>A | - | CN221809 not provided; C1866422 601718 Retinitis pigmentosa 19; C1855465 248200 Stargardt disease 1 | | |
NM_000350.2(ABCA4):c.1848delA (p.Glu616Aspfs) | 24 | ABCA4 | Pathogenic | 61751386 | RCV000008342; RCV000085435; | N | MedGen:C1866422,OMIM:601718; MedGen:CN221809 | 1 | 94528222 | 94528222 | NM_000350.2:c.1848delA | NP_000341.2:p.Glu616Aspfs | NC_000001.10:g.94528222delT | OMIM Allelic Variant:601691.0008 | CN221809 not provided; C1866422 601718 Retinitis pigmentosa 19 | | |
NM_000350.2(ABCA4):c.1222C>T (p.Arg408Ter) | 24 | ABCA4 | Pathogenic | 61748550 | RCV000152707; RCV000152710; RCV000152708; RCV000152709; RCV000085378; | N | MedGen:C1855465,OMIM:248200; MedGen:C1858806,OMIM:604116; MedGen:C1866422,OMIM:601718; MedGen:C3495438,OMIM:153800; MedGen:CN221809 | 1 | 94544895 | 94544895 | NM_000350.2:c.1222C>T | NP_000341.2:p.Arg408Ter | NC_000001.10:g.94544895G>A | HGMD:CM014809 | C3495438 153800 Age-related macular degeneration 2; C1858806 604116 Cone-rod dystrophy 3; CN221809 not provided; C1866422 601718 Retinitis pigmentosa 19; C1855465 248200 Stargardt disease 1 | | |