Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_006269.1(RP1):c.1118C>T (p.Thr373Ile) | 6101 | RP1 | Benign;Pathogenic | 77775126 | RCV000006334; RCV000178267; | N | MedGen:C0220701,OMIM:180100; MedGen:CN169374 | 8 | 55537560 | 55537560 | NM_006269.1:c.1118C>T | NP_006260.1:p.Thr373Ile | NC_000008.10:g.55537560C>T | OMIM Allelic Variant:603937.0006 | CN169374 not specified; C0220701 180100 Retinitis pigmentosa 1 | | |
NM_006269.1(RP1):c.1458_1461dupTGAA (p.Glu488Terfs) | 6101 | RP1 | Pathogenic | 869320728 | RCV000006335; | N | MedGen:C0220701,OMIM:180100 | 8 | 55537900 | 55537903 | NM_006269.1:c.1458_1461dupTGAA | NP_006260.1:p.Glu488Terfs | NC_000008.10:g.55537900_55537903dupTGAA | OMIM Allelic Variant:603937.0007 | C0220701 180100 Retinitis pigmentosa 1 | | |
NM_006269.1(RP1):c.2029C>T (p.Arg677Ter) | 6101 | RP1 | Pathogenic | 104894082 | RCV000006329; | N | MedGen:C0220701,OMIM:180100 | 8 | 55538471 | 55538471 | NM_006269.1:c.2029C>T | NP_006260.1:p.Arg677Ter | NC_000008.10:g.55538471C>T | HGMD:CM991103,OMIM Allelic Variant:603937.0001 | C0220701 180100 Retinitis pigmentosa 1 | | |
NM_006269.1(RP1):c.2035C>T (p.Gln679Ter) | 6101 | RP1 | Pathogenic | 104894083 | RCV000006332; | N | MedGen:C0220701,OMIM:180100 | 8 | 55538477 | 55538477 | NM_006269.1:c.2035C>T | NP_006260.1:p.Gln679Ter | NC_000008.10:g.55538477C>T | OMIM Allelic Variant:603937.0004 | C0220701 180100 Retinitis pigmentosa 1 | | |
NM_006269.1(RP1):c.2285_2289delTAAAT (p.Leu762Tyrfs) | 6101 | RP1 | Pathogenic | 869320726 | RCV000006330; | N | MedGen:C0220701,OMIM:180100 | 8 | 55538727 | 55538731 | NM_006269.1:c.2285_2289delTAAAT | NP_006260.1:p.Leu762Tyrfs | NC_000008.10:g.55538727_55538731delTAAAT | OMIM Allelic Variant:603937.0002 | C0220701 180100 Retinitis pigmentosa 1 | | |
NM_006269.1(RP1):c.2287_2290delAATA (p.Asn763Leufs) | 6101 | RP1 | Pathogenic | 869320727 | RCV000006331; | N | MedGen:C0220701,OMIM:180100 | 8 | 55538729 | 55538732 | NM_006269.1:c.2287_2290delAATA | NP_006260.1:p.Asn763Leufs | NC_000008.10:g.55538729_55538732delAATA | OMIM Allelic Variant:603937.0003 | C0220701 180100 Retinitis pigmentosa 1 | | |
NM_006269.1(RP1):c.2700dupA (p.Pro901Thrfs) | 6101 | RP1 | Pathogenic | 797044735 | RCV000178263; | N | MedGen:C0220701,OMIM:180100 | 8 | 55539142 | 55539142 | NM_006269.1:c.2700dupA | NP_006260.1:p.Pro901Thrfs | NC_000008.10:g.55539142dupA | - | C0220701 180100 Retinitis pigmentosa 1 | | |
NM_006269.1(RP1):c.4555delA (p.Arg1519Glufs) | 6101 | RP1 | Pathogenic | 794727640 | RCV000178262; | N | MedGen:C0220701,OMIM:180100 | 8 | 55540997 | 55540997 | NM_006269.1:c.4555delA | NP_006260.1:p.Arg1519Glufs | NC_000008.10:g.55540997delA | - | C0220701 180100 Retinitis pigmentosa 1 | | |
NM_006269.1(RP1):c.5019T>G (p.Tyr1673Ter) | 6101 | RP1 | Pathogenic | 398124220 | RCV000081372; | N | MedGen:C0220701,OMIM:180100 | 8 | 55541461 | 55541461 | NM_006269.1:c.5019T>G | NP_006260.1:p.Tyr1673Ter | NC_000008.10:g.55541461T>G | - | C0220701 180100 Retinitis pigmentosa 1 | | |