Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000180.3(GUCY2D):c.1773delC (p.Asn591Lysfs) | 3000 | GUCY2D | Pathogenic | 794727952 | RCV000180468; RCV000180469; | N | MedGen:C1866293,OMIM:601777; MedGen:C2931258,OMIM:204000 | 17 | 7915485 | 7915485 | NM_000180.3:c.1773delC | NP_000171.1:p.Asn591Lysfs | NC_000017.10:g.7915485delC | - | C1866293 601777 Cone-rod dystrophy 6; C2931258 204000 Leber congenital amaurosis 1 | | |
NM_000180.3(GUCY2D):c.2511G>C (p.Glu837Asp) | 3000 | GUCY2D | Pathogenic | 28933695 | RCV000009948; RCV000009950; RCV000084860; | N | MedGen:C1866293,OMIM:601777; MedGen:CN221809 | 17 | 7918017 | 7918017 | NM_000180.3:c.2511G>C | NP_000171.1:p.Glu837Asp | NC_000017.10:g.7918017G>C | OMIM Allelic Variant:600179.0005,OMIM Allelic Variant:600179.0007 | C1866293 601777 Cone-rod dystrophy 6; CN221809 not provided | | |
NM_000180.3(GUCY2D):c.2511G>C (p.Glu837Asp) | 3000 | GUCY2D | Pathogenic | 28933695 | RCV000009948; RCV000009950; RCV000084860; | N | MedGen:C1866293,OMIM:601777; MedGen:CN221809 | 17 | 7918017 | 7918017 | NM_000180.3:c.2511G>C | NP_000171.1:p.Glu837Asp | NC_000017.10:g.7918017G>C | OMIM Allelic Variant:600179.0005,OMIM Allelic Variant:600179.0007 | C1866293 601777 Cone-rod dystrophy 6; CN221809 not provided | | |
NM_000180.3(GUCY2D):c.2511G>C (p.Glu837Asp) | 3000 | GUCY2D | Pathogenic | 28933695 | RCV000009948; RCV000009950; RCV000084860; | N | MedGen:C1866293,OMIM:601777; MedGen:CN221809 | 17 | 7918017 | 7918017 | NM_000180.3:c.2511G>C | NP_000171.1:p.Glu837Asp | NC_000017.10:g.7918017G>C | OMIM Allelic Variant:600179.0005,OMIM Allelic Variant:600179.0007 | C1866293 601777 Cone-rod dystrophy 6; CN221809 not provided | | |
NM_000180.3(GUCY2D):c.2512C>T (p.Arg838Cys) | 3000 | GUCY2D | Pathogenic | 61750172 | RCV000009949; RCV000084862; RCV000009950; | N | MedGen:C1866293,OMIM:601777; MedGen:CN221809 | 17 | 7918018 | 7918018 | NM_000180.3:c.2512C>T | NP_000171.1:p.Arg838Cys | NC_000017.10:g.7918018C>A,NC_000017.10:g.7918018C>T | OMIM Allelic Variant:600179.0006,OMIM Allelic Variant:600179.0007 | C1866293 601777 Cone-rod dystrophy 6; CN221809 not provided | | |
NM_000180.3(GUCY2D):c.2512C>T (p.Arg838Cys) | 3000 | GUCY2D | Pathogenic | 61750172 | RCV000009949; RCV000084862; RCV000009950; | N | MedGen:C1866293,OMIM:601777; MedGen:CN221809 | 17 | 7918018 | 7918018 | NM_000180.3:c.2512C>T | NP_000171.1:p.Arg838Cys | NC_000017.10:g.7918018C>A,NC_000017.10:g.7918018C>T | OMIM Allelic Variant:600179.0006,OMIM Allelic Variant:600179.0007 | C1866293 601777 Cone-rod dystrophy 6; CN221809 not provided | | |
NM_000180.3(GUCY2D):c.2512C>A (p.Arg838Ser) | 3000 | GUCY2D | Pathogenic | 61750172 | RCV000009948; RCV000084861; | N | MedGen:C1866293,OMIM:601777; MedGen:CN221809 | 17 | 7918018 | 7918018 | NM_000180.3:c.2512C>A | NP_000171.1:p.Arg838Ser | NC_000017.10:g.7918018C>A,NC_000017.10:g.7918018C>T | OMIM Allelic Variant:600179.0005 | C1866293 601777 Cone-rod dystrophy 6; CN221809 not provided | | |
NM_000180.3(GUCY2D):c.2512C>A (p.Arg838Ser) | 3000 | GUCY2D | Pathogenic | 61750172 | RCV000009948; RCV000084861; | N | MedGen:C1866293,OMIM:601777; MedGen:CN221809 | 17 | 7918018 | 7918018 | NM_000180.3:c.2512C>A | NP_000171.1:p.Arg838Ser | NC_000017.10:g.7918018C>A,NC_000017.10:g.7918018C>T | OMIM Allelic Variant:600179.0005 | C1866293 601777 Cone-rod dystrophy 6; CN221809 not provided | | |
NM_000180.3(GUCY2D):c.2513G>A (p.Arg838His) | 3000 | GUCY2D | Pathogenic | 61750173 | RCV000009951; RCV000084863; | N | MedGen:C1866293,OMIM:601777; MedGen:CN221809 | 17 | 7918019 | 7918019 | NM_000180.3:c.2513G>A | NP_000171.1:p.Arg838His | NC_000017.10:g.7918019G>A | OMIM Allelic Variant:600179.0008 | C1866293 601777 Cone-rod dystrophy 6; CN221809 not provided | | |
NM_000180.3(GUCY2D):c.2516C>T (p.Thr839Met) | 3000 | GUCY2D | Pathogenic | 61750174 | RCV000009950; RCV000084864; | N | MedGen:C1866293,OMIM:601777; MedGen:CN221809 | 17 | 7918022 | 7918022 | NM_000180.3:c.2516C>T | NP_000171.1:p.Thr839Met | NC_000017.10:g.7918022C>T | OMIM Allelic Variant:600179.0007 | C1866293 601777 Cone-rod dystrophy 6; CN221809 not provided | | |
NM_000180.3(GUCY2D):c.2516C>T (p.Thr839Met) | 3000 | GUCY2D | Pathogenic | 61750174 | RCV000009950; RCV000084864; | N | MedGen:C1866293,OMIM:601777; MedGen:CN221809 | 17 | 7918022 | 7918022 | NM_000180.3:c.2516C>T | NP_000171.1:p.Thr839Met | NC_000017.10:g.7918022C>T | OMIM Allelic Variant:600179.0007 | C1866293 601777 Cone-rod dystrophy 6; CN221809 not provided | | |
NM_000180.3(GUCY2D):c.2846T>C (p.Ile949Thr) | 3000 | GUCY2D | Pathogenic | 267606857 | RCV000009953; | N | MedGen:C1866293,OMIM:601777 | 17 | 7918722 | 7918722 | NM_000180.3:c.2846T>C | NP_000171.1:p.Ile949Thr | NC_000017.10:g.7918722T>C | OMIM Allelic Variant:600179.0010 | C1866293 601777 Cone-rod dystrophy 6 | | |