Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001031710.2(KLHL7):c.449G>A (p.Ser150Asn) | 55975 | KLHL7 | Pathogenic | 137853112 | RCV000001063; | N | MedGen:C2751986,OMIM:612943 | 7 | 23180394 | 23180394 | NM_001031710.2:c.449G>A | NP_001026880.2:p.Ser150Asn | NC_000007.13:g.23180394G>A | OMIM Allelic Variant:611119.0001 | C2751986 612943 Retinitis pigmentosa 42 | | |
NM_001031710.2(KLHL7):c.457G>A (p.Ala153Thr) | 55975 | KLHL7 | Pathogenic | 137853114 | RCV000001065; | N | MedGen:C2751986,OMIM:612943 | 7 | 23180402 | 23180402 | NM_001031710.2:c.457G>A | NP_001026880.2:p.Ala153Thr | NC_000007.13:g.23180402G>A | OMIM Allelic Variant:611119.0003 | C2751986 612943 Retinitis pigmentosa 42 | | |
NM_001031710.2(KLHL7):c.458C>T (p.Ala153Val) | 55975 | KLHL7 | Pathogenic | 137853113 | RCV000001064; RCV000079374; | N | MedGen:C2751986,OMIM:612943; MedGen:CN221809 | 7 | 23180403 | 23180403 | NM_001031710.2:c.458C>T | NP_001026880.2:p.Ala153Val | NC_000007.13:g.23180403C>T | HGMD:CM093480,OMIM Allelic Variant:611119.0002 | CN221809 not provided; C2751986 612943 Retinitis pigmentosa 42 | | |