Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_015697.7(COQ2):c.890A>G (p.Tyr297Cys) | 27235 | COQ2 | Pathogenic | 121918230 | RCV000001501; | N | MedGen:C1843920,OMIM:607426 | 4 | 84191035 | 84191035 | NM_015697.7:c.890A>G | NP_056512.5:p.Tyr297Cys | NC_000004.11:g.84191035T>C | OMIM Allelic Variant:609825.0001 | C1843920 607426 Coenzyme Q10 deficiency, primary 1 | | |
NM_015697.7(COQ2):c.683A>G (p.Asn228Ser) | 27235 | COQ2 | Pathogenic | 121918232 | RCV000001504; | N | MedGen:C1843920,OMIM:607426 | 4 | 84194658 | 84194658 | NM_015697.7:c.683A>G | NP_056512.5:p.Asn228Ser | NC_000004.11:g.84194658T>C | OMIM Allelic Variant:609825.0004 | C1843920 607426 Coenzyme Q10 deficiency, primary 1 | | |
NM_015697.7(COQ2):c.590G>A (p.Arg197His) | 27235 | COQ2 | Pathogenic | 121918231 | RCV000001503; | N | MedGen:C1843920,OMIM:607426 | 4 | 84194751 | 84194751 | NM_015697.7:c.590G>A | NP_056512.5:p.Arg197His | NC_000004.11:g.84194751C>T | OMIM Allelic Variant:609825.0003 | C1843920 607426 Coenzyme Q10 deficiency, primary 1 | | |
NM_015697.7(COQ2):c.437G>A (p.Ser146Asn) | 27235 | COQ2 | Pathogenic | 121918233 | RCV000001505; | N | MedGen:C1843920,OMIM:607426 | 4 | 84200234 | 84200234 | NM_015697.7:c.437G>A | NP_056512.5:p.Ser146Asn | NC_000004.11:g.84200234C>T | OMIM Allelic Variant:609825.0005 | C1843920 607426 Coenzyme Q10 deficiency, primary 1 | | |