Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_001193311.1(SUGCT):c.322C>T (p.Arg108Ter) | 79783 | SUGCT | Pathogenic | 137852862 | RCV000001925; | N | MedGen:C0342873,OMIM:231690,ORPHA:35706,SNOMED CT:238070003 | 7 | 40228168 | 40228168 | NM_001193311.1:c.322C>T | NP_001180240.1:p.Arg108Ter | NC_000007.13:g.40228168C>T | OMIM Allelic Variant:609187.0003 | C0342873 231690 Glutaryl-CoA oxidase deficiency | | |
NM_001193311.1(SUGCT):c.535C>T (p.Arg179Ter) | 79783 | SUGCT | Pathogenic | 137852861 | RCV000001924; | N | MedGen:C0342873,OMIM:231690,ORPHA:35706,SNOMED CT:238070003 | 7 | 40277263 | 40277263 | NM_001193311.1:c.535C>T | NP_001180240.1:p.Arg179Ter | NC_000007.13:g.40277263C>T | OMIM Allelic Variant:609187.0002 | C0342873 231690 Glutaryl-CoA oxidase deficiency | | |
NM_001193311.1(SUGCT):c.1006C>T (p.Arg336Trp) | 79783 | SUGCT | Pathogenic | 137852860 | RCV000001923; | N | MedGen:C0342873,OMIM:231690,ORPHA:35706,SNOMED CT:238070003 | 7 | 40498796 | 40498796 | NM_001193311.1:c.1006C>T | NP_001180240.1:p.Arg336Trp | NC_000007.13:g.40498796C>T | OMIM Allelic Variant:609187.0001 | C0342873 231690 Glutaryl-CoA oxidase deficiency | | |