Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_201253.2(CRB1):c.1576C>T (p.Arg526Ter) | 23418 | CRB1 | Pathogenic | 114342808 | RCV000179572; RCV000132698; | N | MedGen:C1838647,OMIM:600105; MedGen:C3151202,OMIM:613835 | 1 | 197390534 | 197390534 | NM_201253.2:c.1576C>T | NP_957705.1:p.Arg526Ter | NC_000001.10:g.197390534C>T | - | C3151202 613835 Leber congenital amaurosis 8; C1838647 600105 Retinitis pigmentosa 12 | | |
NM_201253.2(CRB1):c.2227G>C (p.Val743Leu) | 23418 | CRB1 | Likely pathogenic | 863224862 | RCV000199723; | N | MedGen:C1838647,OMIM:600105 | 1 | 197396682 | 197396682 | NM_201253.2:c.2227G>C | NP_957705.1:p.Val743Leu | NC_000001.10:g.197396682G>C | - | C1838647 600105 Retinitis pigmentosa 12 | | |
NM_201253.2(CRB1):c.2234C>T (p.Thr745Met) | 23418 | CRB1 | Pathogenic | 28939720 | RCV000006087; RCV000086315; | N | MedGen:C1838647,OMIM:600105; MedGen:CN221809 | 1 | 197396689 | 197396689 | NM_201253.2:c.2234C>T | NP_957705.1:p.Thr745Met | NC_000001.10:g.197396689C>T | OMIM Allelic Variant:604210.0005 | CN221809 not provided; C1838647 600105 Retinitis pigmentosa 12 | | |
NM_201253.2(CRB1):c.2290C>T (p.Arg764Cys) | 23418 | CRB1 | Pathogenic | 62635654 | RCV000006086; RCV000086317; | N | MedGen:C1838647,OMIM:600105; MedGen:CN221809 | 1 | 197396745 | 197396745 | NM_201253.2:c.2290C>T | NP_957705.1:p.Arg764Cys | NC_000001.10:g.197396745C>T | OMIM Allelic Variant:604210.0004 | CN221809 not provided; C1838647 600105 Retinitis pigmentosa 12 | | |
NM_201253.2(CRB1):c.2401A>T (p.Lys801Ter) | 23418 | CRB1 | Pathogenic | 137853137 | RCV000006090; RCV000180023; | N | MedGen:C1838647,OMIM:600105; MedGen:C3151202,OMIM:613835 | 1 | 197396856 | 197396856 | NM_201253.2:c.2401A>T | NP_957705.1:p.Lys801Ter | NC_000001.10:g.197396856A>T | OMIM Allelic Variant:604210.0008 | C3151202 613835 Leber congenital amaurosis 8; C1838647 600105 Retinitis pigmentosa 12 | | |
NM_201253.2(CRB1):c.2843G>A (p.Cys948Tyr) | 23418 | CRB1 | Pathogenic | 62645748 | RCV000032815; RCV000032814; RCV000086331; | N | MedGen:C1838647,OMIM:600105; MedGen:C3151202,OMIM:613835; MedGen:CN221809 | 1 | 197403836 | 197403836 | NM_201253.2:c.2843G>A | NP_957705.1:p.Cys948Tyr | NC_000001.10:g.197403836G>A | OMIM Allelic Variant:604210.0013 | C3151202 613835 Leber congenital amaurosis 8; CN221809 not provided; C1838647 600105 Retinitis pigmentosa 12 | | |
NM_201253.2(CRB1):c.2983G>T (p.Glu995Ter) | 23418 | CRB1 | Pathogenic | 62635655 | RCV000006085; RCV000086334; | N | MedGen:C1838647,OMIM:600105; MedGen:CN221809 | 1 | 197403976 | 197403976 | NM_201253.2:c.2983G>T | NP_957705.1:p.Glu995Ter | NC_000001.10:g.197403976G>T | OMIM Allelic Variant:604210.0003 | CN221809 not provided; C1838647 600105 Retinitis pigmentosa 12 | | |
NM_201253.2(CRB1):c.3122T>C (p.Met1041Thr) | 23418 | CRB1 | Pathogenic | 62635656 | RCV000006084; RCV000086336; | N | MedGen:C1838647,OMIM:600105; MedGen:CN221809 | 1 | 197404115 | 197404115 | NM_201253.2:c.3122T>C | NP_957705.1:p.Met1041Thr | NC_000001.10:g.197404115T>C | OMIM Allelic Variant:604210.0002 | CN221809 not provided; C1838647 600105 Retinitis pigmentosa 12 | | |
NM_201253.2(CRB1):c.3307G>A (p.Gly1103Arg) | 23418 | CRB1 | Pathogenic | 62636275 | RCV000006094; RCV000006093; RCV000086341; | N | MedGen:C1838647,OMIM:600105; MedGen:C3151202,OMIM:613835; MedGen:CN221809 | 1 | 197404300 | 197404300 | NM_201253.2:c.3307G>A | NP_957705.1:p.Gly1103Arg | NC_000001.10:g.197404300G>A | OMIM Allelic Variant:604210.0011 | C3151202 613835 Leber congenital amaurosis 8; CN221809 not provided; C1838647 600105 Retinitis pigmentosa 12 | | |
NM_201253.2(CRB1):c.3383delT (p.Ile1128Thrfs) | 23418 | CRB1 | Pathogenic | 794727980 | RCV000180719; RCV000180718; | N | MedGen:C1838647,OMIM:600105; MedGen:C3151202,OMIM:613835 | 1 | 197404376 | 197404376 | NM_201253.2:c.3383delT | NP_957705.1:p.Ile1128Thrfs | NC_000001.10:g.197404376delT | - | C3151202 613835 Leber congenital amaurosis 8; C1838647 600105 Retinitis pigmentosa 12 | | |
NM_201253.2(CRB1):c.3541T>C (p.Cys1181Arg) | 23418 | CRB1 | Pathogenic | 62636291 | RCV000006091; RCV000086346; | N | MedGen:C1838647,OMIM:600105; MedGen:CN221809 | 1 | 197404534 | 197404534 | NM_201253.2:c.3541T>C | NP_957705.1:p.Cys1181Arg | NC_000001.10:g.197404534T>C | OMIM Allelic Variant:604210.0009 | CN221809 not provided; C1838647 600105 Retinitis pigmentosa 12 | | |
NM_201253.2(CRB1):c.4121_4130delCAACTCAGGG (p.Ala1374Glufs) | 23418 | CRB1 | Pathogenic | 281865175 | RCV000006095; RCV000006096; RCV000086353; | N | MedGen:C1838647,OMIM:600105; MedGen:C3151202,OMIM:613835; MedGen:CN221809 | 1 | 197446909 | 197446918 | NM_201253.2:c.4121_4130delCAACTCAGGG | NP_957705.1:p.Ala1374Glufs | NC_000001.10:g.197446909_197446918delCAACTCAGGG | OMIM Allelic Variant:604210.0012 | C3151202 613835 Leber congenital amaurosis 8; CN221809 not provided; C1838647 600105 Retinitis pigmentosa 12 | | |