Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001029883.2(C2orf71):c.2756_2768delAGCCAGCCCTGGA (p.Lys919Thrfs) | 388939 | C2orf71 | Pathogenic | 794728002 | RCV000000125; | N | MedGen:C3150691,OMIM:613428 | 2 | 29294360 | 29294372 | NM_001029883.2:c.2756_2768delAGCCAGCCCTGGA | NP_001025054.1:p.Lys919Thrfs | NC_000002.11:g.29294360_29294372delTCCAGGGCTGGCT | OMIM Allelic Variant:613425.0005 | C3150691 613428 Retinitis pigmentosa 54 | | |
NM_001029883.2(C2orf71):c.947delA (p.Asn316Metfs) | 388939 | C2orf71 | Pathogenic | 779886453 | RCV000000123; | N | MedGen:C3150691,OMIM:613428 | 2 | 29296181 | 29296181 | NM_001029883.2:c.947delA | NP_001025054.1:p.Asn316Metfs | NC_000002.11:g.29296181delT | OMIM Allelic Variant:613425.0003 | C3150691 613428 Retinitis pigmentosa 54 | | |
NM_001029883.2(C2orf71):c.601A>T (p.Ile201Phe) | 388939 | C2orf71 | Pathogenic | 267606690 | RCV000000122; | N | MedGen:C3150691,OMIM:613428 | 2 | 29296527 | 29296527 | NM_001029883.2:c.601A>T | NP_001025054.1:p.Ile201Phe | NC_000002.11:g.29296527T>A | OMIM Allelic Variant:613425.0002 | C3150691 613428 Retinitis pigmentosa 54 | | |
NM_001029883.2(C2orf71):c.556C>T (p.Gln186Ter) | 388939 | C2orf71 | Pathogenic | 267606691 | RCV000000124; | N | MedGen:C3150691,OMIM:613428 | 2 | 29296572 | 29296572 | NM_001029883.2:c.556C>T | NP_001025054.1:p.Gln186Ter | NC_000002.11:g.29296572G>A | OMIM Allelic Variant:613425.0004 | C3150691 613428 Retinitis pigmentosa 54 | | |