Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001142800.1(EYS):c.9405T>A (p.Tyr3135Ter) | 346007 | EYS | Pathogenic | 137853190 | RCV000000568; | N | MedGen:C1864446,OMIM:602772 | 6 | 64430522 | 64430522 | NM_001142800.1:c.9405T>A | NP_001136272.1:p.Tyr3135Ter | NC_000006.11:g.64430522A>T | OMIM Allelic Variant:612424.0005 | C1864446 602772 Retinitis pigmentosa 25 | | |
NM_001142800.1(EYS):c.8408dupA (p.Asn2803Lysfs) | 346007 | EYS | Pathogenic | 398123576 | RCV000178517; RCV000079547; | N | MedGen:C1864446,OMIM:602772; MedGen:CN221809 | 6 | 64431519 | 64431519 | NM_001142800.1:c.8408dupA | NP_001136272.1:p.Asn2803Lysfs | NC_000006.11:g.64431519dupT | - | CN221809 not provided; C1864446 602772 Retinitis pigmentosa 25 | | |
NM_001142800.1(EYS):c.7095T>G (p.Tyr2365Ter) | 346007 | EYS | Pathogenic | 398123575 | RCV000177866; RCV000079546; RCV000210330; | N | MedGen:C0854723,SNOMED CT:314407005; MedGen:C1864446,OMIM:602772; MedGen:CN221809 | 6 | 64574212 | 64574212 | NM_001142800.1:c.7095T>G | NP_001136272.1:p.Tyr2365Ter | NC_000006.11:g.64574212A>C | HGMD:CM103596 | CN221809 not provided; C0854723 Retinal dystrophy; C1864446 602772 Retinitis pigmentosa 25 | | |
NM_001142800.1(EYS):c.6528C>A (p.Tyr2176Ter) | 346007 | EYS | Pathogenic | 797045089 | RCV000190583; | N | MedGen:C1864446,OMIM:602772 | 6 | 64791792 | 64791792 | NM_001142800.1:c.6528C>A | NP_001136272.1:p.Tyr2176Ter | NC_000006.11:g.64791792G>T | - | C1864446 602772 Retinitis pigmentosa 25 | | |
NM_001142800.1(EYS):c.6416G>A (p.Cys2139Tyr) | 346007 | EYS | Pathogenic;Uncertain significance | 749909863 | RCV000177524; RCV000169660; | N | MedGen:C1864446,OMIM:602772; MedGen:CN169374 | 6 | 64940493 | 64940493 | NM_001142800.1:c.6416G>A | NP_001136272.1:p.Cys2139Tyr | NC_000006.11:g.64940493C>T | - | CN169374 not specified; C1864446 602772 Retinitis pigmentosa 25 | | |
NM_001142800.1(EYS):c.5857G>T (p.Glu1953Ter) | 346007 | EYS | Pathogenic | 137853189 | RCV000000567; | N | MedGen:C1864446,OMIM:602772 | 6 | 65146137 | 65146137 | NM_001142800.1:c.5857G>T | NP_001136272.1:p.Glu1953Ter | NC_000006.11:g.65146137C>A | OMIM Allelic Variant:612424.0004 | C1864446 602772 Retinitis pigmentosa 25 | | |
NM_001142800.1(EYS):c.4350_4356delTATAGCT (p.Ile1451Profs) | 346007 | EYS | Pathogenic | 761238771 | RCV000176623; | N | MedGen:C1864446,OMIM:602772 | 6 | 65301404 | 65301410 | NM_001142800.1:c.4350_4356delTATAGCT | NP_001136272.1:p.Ile1451Profs | NC_000006.11:g.65301404_65301410delAGCTATA | - | C1864446 602772 Retinitis pigmentosa 25 | | |
NM_001142800.1(EYS):c.3443+1G>T | 346007 | EYS | Pathogenic | 373441420 | RCV000176281; | N | MedGen:C1864446,OMIM:602772 | 6 | 65523270 | 65523270 | NM_001142800.1:c.3443+1G>T | | NC_000006.11:g.65523270C>A | - | C1864446 602772 Retinitis pigmentosa 25 | | |
NM_001142800.1(EYS):c.2194C>T (p.Gln732Ter) | 346007 | EYS | Pathogenic | 794727120 | RCV000174711; | N | MedGen:C1864446,OMIM:602772 | 6 | 65707540 | 65707540 | NM_001142800.1:c.2194C>T | NP_001136272.1:p.Gln732Ter | NC_000006.11:g.65707540G>A | - | C1864446 602772 Retinitis pigmentosa 25 | | |
NM_001142800.1(EYS):c.2055T>A (p.Cys685Ter) | 346007 | EYS | Pathogenic | 372354156 | RCV000174505; | N | MedGen:C1864446,OMIM:602772 | 6 | 65767589 | 65767589 | NM_001142800.1:c.2055T>A | NP_001136272.1:p.Cys685Ter | NC_000006.11:g.65767589A>T | - | C1864446 602772 Retinitis pigmentosa 25 | | |
NM_001142800.1(EYS):c.881C>G (p.Ser294Ter) | 346007 | EYS | Pathogenic | 752683070 | RCV000190584; | N | MedGen:C1864446,OMIM:602772 | 6 | 66115242 | 66115242 | NM_001142800.1:c.881C>G | NP_001136272.1:p.Ser294Ter | NC_000006.11:g.66115242G>C | - | C1864446 602772 Retinitis pigmentosa 25 | | |
NM_001142800.1(EYS):c.490C>T (p.Arg164Ter) | 346007 | EYS | Pathogenic | 794727631 | RCV000178152; | N | MedGen:C1864446,OMIM:602772 | 6 | 66204814 | 66204814 | NM_001142800.1:c.490C>T | NP_001136272.1:p.Arg164Ter | NC_000006.11:g.66204814G>A | - | C1864446 602772 Retinitis pigmentosa 25 | | |