Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_006915.2(RP2):c.16_18delTCC (p.Ser6del) | 6102 | RP2 | Pathogenic | 137852284 | RCV000011290; | N | MedGen:C2681923,OMIM:312600 | X | 46696551 | 46696553 | NM_006915.2:c.16_18delTCC | NP_008846.2:p.Ser6del | NC_000023.10:g.46696551_46696553delTCC | OMIM Allelic Variant:300757.0001 | C2681923 312600 Retinitis pigmentosa 2 | | |
NM_006915.2(RP2):c.76C>T (p.Gln26Ter) | 6102 | RP2 | Pathogenic | 104894925 | RCV000011291; | N | MedGen:C2681923,OMIM:312600 | X | 46696611 | 46696611 | NM_006915.2:c.76C>T | NP_008846.2:p.Gln26Ter | NC_000023.10:g.46696611C>T | OMIM Allelic Variant:300757.0002 | C2681923 312600 Retinitis pigmentosa 2 | | |
NM_006915.2(RP2):c.352delC (p.Arg118Valfs) | 6102 | RP2 | Pathogenic | 797044507 | RCV000153853; | N | MedGen:C2681923,OMIM:312600 | X | 46713160 | 46713160 | NM_006915.2:c.352delC | NP_008846.2:p.Arg118Valfs | NC_000023.10:g.46713160delC | - | C2681923 312600 Retinitis pigmentosa 2 | | |
NM_006915.2(RP2):c.353G>A (p.Arg118His) | 6102 | RP2 | Pathogenic | 28933687 | RCV000011292; | N | MedGen:C2681923,OMIM:312600 | X | 46713161 | 46713161 | NM_006915.2:c.353G>A | NP_008846.2:p.Arg118His | NC_000023.10:g.46713161G>A,NC_000023.10:g.46713161G>T | OMIM Allelic Variant:300757.0003 | C2681923 312600 Retinitis pigmentosa 2 | | |
NM_006915.2(RP2):c.353G>T (p.Arg118Leu) | 6102 | RP2 | Pathogenic | 28933687 | RCV000011295; | N | MedGen:C2681923,OMIM:312600 | X | 46713161 | 46713161 | NM_006915.2:c.353G>T | NP_008846.2:p.Arg118Leu | NC_000023.10:g.46713161G>A,NC_000023.10:g.46713161G>T | OMIM Allelic Variant:300757.0006 | C2681923 312600 Retinitis pigmentosa 2 | | |
NM_006915.2(RP2):c.358C>T (p.Arg120Ter) | 6102 | RP2 | Pathogenic | 104894927 | RCV000011297; | N | MedGen:C2681923,OMIM:312600 | X | 46713166 | 46713166 | NM_006915.2:c.358C>T | NP_008846.2:p.Arg120Ter | NC_000023.10:g.46713166C>T | OMIM Allelic Variant:300757.0008 | C2681923 312600 Retinitis pigmentosa 2 | | |
NM_006915.2(RP2):c.453C>G (p.Tyr151Ter) | 6102 | RP2 | Pathogenic | 104894926 | RCV000011293; | N | MedGen:C2681923,OMIM:312600 | X | 46713261 | 46713261 | NM_006915.2:c.453C>G | NP_008846.2:p.Tyr151Ter | NC_000023.10:g.46713261C>G | OMIM Allelic Variant:300757.0004 | C2681923 312600 Retinitis pigmentosa 2 | | |