Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_018129.3(PNPO):c.364_417del54 | 55163 | PNPO | Pathogenic | 774710082 | RCV000006897; | N | MedGen:C1864723,OMIM:610090,ORPHA:79096 | 17 | 46022924 | 46022924 | NM_018129.3:c.364_417del54 | | NC_000017.10:g.46022924G>A | OMIM Allelic Variant:603287.0002 | C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy | | |
NM_018129.3(PNPO):c.448_451delCCTG (p.Pro150Argfs) | 55163 | PNPO | Likely pathogenic;Pathogenic | 796052872 | RCV000194659; RCV000188508; | N | MedGen:C1864723,OMIM:610090,ORPHA:79096; MedGen:CN221809 | 17 | 46023257 | 46023260 | NM_018129.3:c.448_451delCCTG | NP_060599.1:p.Pro150Argfs | NC_000017.10:g.46023257_46023260delCCTG | - | CN221809 not provided; C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy | | |
NM_018129.3(PNPO):c.520C>T (p.Gln174Ter) | 55163 | PNPO | Pathogenic | 267606958 | RCV000006899; | N | MedGen:C1864723,OMIM:610090,ORPHA:79096 | 17 | 46023329 | 46023329 | NM_018129.3:c.520C>T | NP_060599.1:p.Gln174Ter | NC_000017.10:g.46023329C>T | OMIM Allelic Variant:603287.0004 | C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy | | |
NM_018129.3(PNPO):c.674G>A (p.Arg225His) | 55163 | PNPO | Pathogenic | 550423482 | RCV000208779; | N | MedGen:C1864723,OMIM:610090,ORPHA:79096 | 17 | 46024036 | 46024036 | NM_018129.3:c.674G>A | NP_060599.1:p.Arg225His | | OMIM Allelic Variant:603287.0005 | C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy | | |
NM_018129.3(PNPO):c.685C>T (p.Arg229Trp) | 55163 | PNPO | Pathogenic | 104894629 | RCV000006896; | N | MedGen:C1864723,OMIM:610090,ORPHA:79096 | 17 | 46024047 | 46024047 | NM_018129.3:c.685C>T | NP_060599.1:p.Arg229Trp | NC_000017.10:g.46024047C>T | OMIM Allelic Variant:603287.0001 | C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy | | |
NM_018129.3(PNPO):c.686G>A (p.Arg229Gln) | 55163 | PNPO | Pathogenic | 773450573 | RCV000208780; RCV000188500; | N | MedGen:C1864723,OMIM:610090,ORPHA:79096; MedGen:CN221809 | 17 | 46024048 | 46024048 | NM_018129.3:c.686G>A | NP_060599.1:p.Arg229Gln | NC_000017.10:g.46024048G>A | OMIM Allelic Variant:603287.0006 | CN221809 not provided; C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy | | |
NM_018129.3(PNPO):c.784T>C (p.Ter262Gln) | 55163 | PNPO | Pathogenic | 104894631 | RCV000006898; | N | MedGen:C1864723,OMIM:610090,ORPHA:79096 | 17 | 46024146 | 46024146 | NM_018129.3:c.784T>C | NP_060599.1:p.Ter262Gln | NC_000017.10:g.46024146T>C | OMIM Allelic Variant:603287.0003 | C1864723 610090 Pyridoxal 5'-phosphate-dependent epilepsy | | |