Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000409.4(GUCA1A):c.149C>T (p.Pro50Leu) | 2978 | GUCA1A | Pathogenic | 104893968 | RCV000009722; | N | MedGen:C1865869,OMIM:602093 | 6 | 42141500 | 42141500 | NM_000409.4:c.149C>T | NP_000400.2:p.Pro50Leu | NC_000006.11:g.42141500C>T | OMIM Allelic Variant:600364.0002 | C1865869 602093 Cone dystrophy 3 | | |
NG_009938.1:g.27923C>T | 2978 | GUCA1A | Pathogenic | 869320709 | RCV000210865; | N | MedGen:C1865869,OMIM:602093 | 6 | 42146066 | 42146066 | NM_000409.4:c.250C>T | | NC_000006.11:g.42146066C>T | OMIM Allelic Variant:600364.0004 | C1865869 602093 Cone dystrophy 3 | | |
NM_000409.4(GUCA1A):c.296A>G (p.Tyr99Cys) | 2978 | GUCA1A | Pathogenic | 104893967 | RCV000009721; | N | MedGen:C1865869,OMIM:602093 | 6 | 42146112 | 42146112 | NM_000409.4:c.296A>G | NP_000400.2:p.Tyr99Cys | NC_000006.11:g.42146112A>G | OMIM Allelic Variant:600364.0001 | C1865869 602093 Cone dystrophy 3 | | |
NG_009938.1:g.27993T>C | 2978 | GUCA1A | Pathogenic | 869320710 | RCV000210873; | N | MedGen:C1865869,OMIM:602093 | 6 | 42146136 | 42146136 | NM_000409.4:c.320T>C | | NC_000006.11:g.42146136T>C | OMIM Allelic Variant:600364.0005 | C1865869 602093 Cone dystrophy 3 | | |
NM_000409.4(GUCA1A):c.451C>T (p.Leu151Phe) | 2978 | GUCA1A | Pathogenic | 121434631 | RCV000032613; | N | MedGen:C1865869,OMIM:602093 | 6 | 42146986 | 42146986 | NM_000409.4:c.451C>T | NP_000400.2:p.Leu151Phe | NC_000006.11:g.42146986C>T | OMIM Allelic Variant:600364.0003 | C1865869 602093 Cone dystrophy 3 | | |