Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_006623.3(PHGDH):c.403C>T (p.Arg135Trp) | 26227 | PHGDH | Pathogenic | 267606949 | RCV000004074; | N | MedGen:C1866174,OMIM:601815 | 1 | 120269520 | 120269520 | NM_006623.3:c.403C>T | NP_006614.2:p.Arg135Trp | NC_000001.10:g.120269520C>T | OMIM Allelic Variant:606879.0004 | C1866174 601815 Phosphoglycerate dehydrogenase deficiency | | |
NM_006623.3(PHGDH):c.714delG (p.Ile239Serfs) | 26227 | PHGDH | Pathogenic | 730882181 | RCV000004073; | N | MedGen:C1866174,OMIM:601815 | 1 | 120277988 | 120277988 | NM_006623.3:c.714delG | NP_006614.2:p.Ile239Serfs | NC_000001.10:g.120277988delG | OMIM Allelic Variant:606879.0003 | C1866174 601815 Phosphoglycerate dehydrogenase deficiency | | |
NM_006623.3(PHGDH):c.781G>A (p.Val261Met) | 26227 | PHGDH | Pathogenic | 267606947 | RCV000004076; | N | MedGen:C1866174,OMIM:601815 | 1 | 120278055 | 120278055 | NM_006623.3:c.781G>A | NP_006614.2:p.Val261Met | NC_000001.10:g.120278055G>A | OMIM Allelic Variant:606879.0006 | C1866174 601815 Phosphoglycerate dehydrogenase deficiency | | |
NM_006623.3(PHGDH):c.1129G>A (p.Gly377Ser) | 26227 | PHGDH | Pathogenic | 267606948 | RCV000004075; | N | MedGen:C1866174,OMIM:601815 | 1 | 120284440 | 120284440 | NM_006623.3:c.1129G>A | NP_006614.2:p.Gly377Ser | NC_000001.10:g.120284440G>A | OMIM Allelic Variant:606879.0005 | C1866174 601815 Phosphoglycerate dehydrogenase deficiency | | |
NM_006623.3(PHGDH):c.1273G>A (p.Val425Met) | 26227 | PHGDH | Pathogenic | 121907988 | RCV000004072; | N | MedGen:C1866174,OMIM:601815 | 1 | 120285493 | 120285493 | NM_006623.3:c.1273G>A | NP_006614.2:p.Val425Met | NC_000001.10:g.120285493G>A | OMIM Allelic Variant:606879.0002 | C1866174 601815 Phosphoglycerate dehydrogenase deficiency | | |
NM_006623.3(PHGDH):c.1468G>A (p.Val490Met) | 26227 | PHGDH | Pathogenic | 121907987 | RCV000004071; | N | MedGen:C1866174,OMIM:601815 | 1 | 120286529 | 120286529 | NM_006623.3:c.1468G>A | NP_006614.2:p.Val490Met | NC_000001.10:g.120286529G>A | OMIM Allelic Variant:606879.0001 | C1866174 601815 Phosphoglycerate dehydrogenase deficiency | | |