Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_003322.4(TULP1):c.1471T>C (p.Phe491Leu) | 7287 | TULP1 | Pathogenic | 121909074 | RCV000007783; | N | MedGen:C1838603,OMIM:600132 | 6 | 35467782 | 35467782 | NM_003322.4:c.1471T>C | NP_003313.3:p.Phe491Leu | NC_000006.11:g.35467782A>G | OMIM Allelic Variant:602280.0002 | C1838603 600132 Retinitis pigmentosa 14 | | |
NM_003322.4(TULP1):c.1444C>T (p.Arg482Trp) | 7287 | TULP1 | Pathogenic | 121909077 | RCV000007788; | N | MedGen:C1838603,OMIM:600132 | 6 | 35467809 | 35467809 | NM_003322.4:c.1444C>T | NP_003313.3:p.Arg482Trp | NC_000006.11:g.35467809G>A | OMIM Allelic Variant:602280.0007 | C1838603 600132 Retinitis pigmentosa 14 | | |
NM_003322.4(TULP1):c.1376T>A (p.Ile459Lys) | 7287 | TULP1 | Pathogenic | 121909075 | RCV000007784; | N | MedGen:C1838603,OMIM:600132 | 6 | 35467877 | 35467877 | NM_003322.4:c.1376T>A | NP_003313.3:p.Ile459Lys | NC_000006.11:g.35467877A>G,NC_000006.11:g.35467877A>T | OMIM Allelic Variant:602280.0003 | C1838603 600132 Retinitis pigmentosa 14 | | |
NM_003322.4(TULP1):c.1259G>C (p.Arg420Pro) | 7287 | TULP1 | Pathogenic | 121909073 | RCV000007782; RCV000086066; | N | MedGen:C1838603,OMIM:600132; MedGen:CN221809 | 6 | 35471400 | 35471400 | NM_003322.4:c.1259G>C | NP_003313.3:p.Arg420Pro | NC_000006.11:g.35471400C>G | OMIM Allelic Variant:602280.0001 | CN221809 not provided; C1838603 600132 Retinitis pigmentosa 14 | | |
NM_003322.4(TULP1):c.1145T>C (p.Phe382Ser) | 7287 | TULP1 | Pathogenic | 121909076 | RCV000007787; RCV000132649; | N | MedGen:C0035334,OMIM:268000,ORPHA:791,SNOMED CT:28835009; MedGen:C1838603,OMIM:600132 | 6 | 35471593 | 35471593 | NM_003322.4:c.1145T>C | NP_003313.3:p.Phe382Ser | NC_000006.11:g.35471593A>G | OMIM Allelic Variant:602280.0006 | C0035334 268000 Retinitis pigmentosa; C1838603 600132 Retinitis pigmentosa 14 | | |