Variation_Name | GeneID | GeneSymbol | ClinicalSignificance | dbSNP | RCVaccession | TestedInGTR | PhenotypeIDs | Chromosome | Start | Stop | HGVS_c | HGVS_p | HGVS_g | OtherIDs | Disease_ClinVar | Disease_hgmd | NM_000175.3(GPI):c.14C>T (p.Thr5Ile) | 2821 | GPI | Pathogenic | 267606852 | RCV000014617; | N | MedGen:C3150730,OMIM:613470,ORPHA:712 | 19 | 34856185 | 34856185 | NM_000175.3:c.14C>T | NP_000166.2:p.Thr5Ile | NC_000019.9:g.34856185C>T | OMIM Allelic Variant:172400.0009 | C3150730 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | | |
NM_000175.3(GPI):c.475G>A (p.Gly159Ser) | 2821 | GPI | Pathogenic | 137853582 | RCV000014609; | N | MedGen:C3150730,OMIM:613470,ORPHA:712 | 19 | 34868480 | 34868480 | NM_000175.3:c.475G>A | NP_000166.2:p.Gly159Ser | NC_000019.9:g.34868480G>A | OMIM Allelic Variant:172400.0001 | C3150730 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | | |
NM_000175.3(GPI):c.671C>T (p.Thr224Met) | 2821 | GPI | Pathogenic | 61754634 | RCV000014613; | N | MedGen:C3150730,OMIM:613470,ORPHA:712 | 19 | 34869876 | 34869876 | NM_000175.3:c.671C>T | NP_000166.2:p.Thr224Met | NC_000019.9:g.34869876C>T | OMIM Allelic Variant:172400.0005 | C3150730 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | | |
NM_000175.3(GPI):c.1028A>G (p.Gln343Arg) | 2821 | GPI | Pathogenic | 267606851 | RCV000014616; | N | MedGen:C3150730,OMIM:613470,ORPHA:712 | 19 | 34884937 | 34884937 | NM_000175.3:c.1028A>G | NP_000166.2:p.Gln343Arg | NC_000019.9:g.34884937A>G | OMIM Allelic Variant:172400.0008 | C3150730 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | | |
NM_000175.3(GPI):c.1040G>A (p.Arg347His) | 2821 | GPI | Pathogenic | 137853583 | RCV000014610; | N | MedGen:C3150730,OMIM:613470,ORPHA:712 | 19 | 34884949 | 34884949 | NM_000175.3:c.1040G>A | NP_000166.2:p.Arg347His | NC_000019.9:g.34884949G>A | OMIM Allelic Variant:172400.0002 | C3150730 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | | |
NM_000175.3(GPI):c.1124C>G (p.Thr375Arg) | 2821 | GPI | Pathogenic | 267606853 | RCV000014618; | N | MedGen:C3150730,OMIM:613470,ORPHA:712 | 19 | 34887267 | 34887267 | NM_000175.3:c.1124C>G | NP_000166.2:p.Thr375Arg | NC_000019.9:g.34887267C>G | OMIM Allelic Variant:172400.0010 | C3150730 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | | |
NM_000175.3(GPI):c.1574T>C (p.Ile525Thr) | 2821 | GPI | Pathogenic | 137853584 | RCV000014611; | N | MedGen:C3150730,OMIM:613470,ORPHA:712 | 19 | 34890838 | 34890838 | NM_000175.3:c.1574T>C | NP_000166.2:p.Ile525Thr | NC_000019.9:g.34890838T>C | OMIM Allelic Variant:172400.0003 | C3150730 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | | |
NM_000175.3(GPI):c.1615G>A (p.Asp539Asn) | 2821 | GPI | Pathogenic | 137853585 | RCV000014612; | N | MedGen:C3150730,OMIM:613470,ORPHA:712 | 19 | 34890879 | 34890879 | NM_000175.3:c.1615G>A | NP_000166.2:p.Asp539Asn | NC_000019.9:g.34890879G>A | OMIM Allelic Variant:172400.0004,OMIM Allelic Variant:172400.0011 | C3150730 613470 Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency | | |