Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_016247.3(IMPG2):c.2890C>T (p.Arg964Ter) | 50939 | IMPG2 | Pathogenic | 267606875 | RCV000003727; | N | MedGen:C3150819,OMIM:613581 | 3 | 100961664 | 100961664 | NM_016247.3:c.2890C>T | NP_057331.2:p.Arg964Ter | NC_000003.11:g.100961664G>A | OMIM Allelic Variant:607056.0004 | C3150819 613581 Retinitis pigmentosa 56 | | |
NM_016247.3(IMPG2):c.2716C>T (p.Arg906Ter) | 50939 | IMPG2 | Pathogenic | 267606876 | RCV000003726; | N | MedGen:C3150819,OMIM:613581 | 3 | 100962459 | 100962459 | NM_016247.3:c.2716C>T | NP_057331.2:p.Arg906Ter | NC_000003.11:g.100962459G>A | OMIM Allelic Variant:607056.0003 | C3150819 613581 Retinitis pigmentosa 56 | | |
NM_016247.3(IMPG2):c.888-1554_908+274del | 50939 | IMPG2 | Pathogenic | -1 | RCV000003725; | N | MedGen:C3150819,OMIM:613581 | 3 | 100986081 | 100987929 | NM_016247.3:c.888-1554_908+274del | | | OMIM Allelic Variant:607056.0002,dbVar:nssv7487219,dbVar:nsv1197565 | C3150819 613581 Retinitis pigmentosa 56 | | |
NM_016247.3(IMPG2):c.635C>G (p.Ser212Ter) | 50939 | IMPG2 | Pathogenic | 267606874 | RCV000003724; | N | MedGen:C3150819,OMIM:613581 | 3 | 100994538 | 100994538 | NM_016247.3:c.635C>G | NP_057331.2:p.Ser212Ter | NC_000003.11:g.100994538G>C | OMIM Allelic Variant:607056.0001 | C3150819 613581 Retinitis pigmentosa 56 | | |