Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001030311.2(CERKL):c.858delT (p.Pro287Leufs) | 375298 | CERKL | Pathogenic | 398122964 | RCV000076912; | N | MedGen:C1842127,OMIM:608380 | 2 | 182423333 | 182423333 | NM_001030311.2:c.858delT | NP_001025482.1:p.Pro287Leufs | NC_000002.11:g.182423333delA | OMIM Allelic Variant:608381.0004 | C1842127 608380 Retinitis pigmentosa 26 | | |
NM_201548.4(CERKL):c.769C>T (p.Arg257Ter) | 375298 | CERKL | Pathogenic | 121909398 | RCV000002460; RCV000196604; | N | MedGen:C1842127,OMIM:608380 | 2 | 182423344 | 182423344 | NM_201548.4:c.769C>T | NP_963842.1:p.Arg257Ter | NC_000002.11:g.182423344G>A | OMIM Allelic Variant:608381.0001 | C1842127 608380 Retinitis pigmentosa 26 | | |
NM_201548.4(CERKL):c.769C>T (p.Arg257Ter) | 375298 | CERKL | Pathogenic | 121909398 | RCV000002460; RCV000196604; | N | MedGen:C1842127,OMIM:608380 | 2 | 182423344 | 182423344 | NM_201548.4:c.769C>T | NP_963842.1:p.Arg257Ter | NC_000002.11:g.182423344G>A | OMIM Allelic Variant:608381.0001 | C1842127 608380 Retinitis pigmentosa 26 | | |
NM_201548.4(CERKL):c.674A>T (p.Asp225Val) | 375298 | CERKL | Pathogenic | 863224855 | RCV000196604; | N | MedGen:C1842127,OMIM:608380 | 2 | 182430788 | 182430788 | NM_201548.4:c.674A>T | NP_963842.1:p.Asp225Val | NC_000002.11:g.182430788T>A | - | C1842127 608380 Retinitis pigmentosa 26 | | |
NM_001030311.2(CERKL):c.598A>T (p.Lys200Ter) | 375298 | CERKL | Pathogenic | 398122963 | RCV000076911; | N | MedGen:C1842127,OMIM:608380 | 2 | 182438495 | 182438495 | NM_001030311.2:c.598A>T | NP_001025482.1:p.Lys200Ter | NC_000002.11:g.182438495T>A | OMIM Allelic Variant:608381.0003 | C1842127 608380 Retinitis pigmentosa 26 | | |
NM_001030311.2(CERKL):c.420delT (p.Ile141Leufs) | 375298 | CERKL | Pathogenic | 398122962 | RCV000076910; | N | MedGen:C1842127,OMIM:608380 | 2 | 182468625 | 182468625 | NM_001030311.2:c.420delT | NP_001025482.1:p.Ile141Leufs | NC_000002.11:g.182468625delA | OMIM Allelic Variant:608381.0002 | C1842127 608380 Retinitis pigmentosa 26 | | |