Total: 789517 genomic variation-disease records
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- RCV000004181 - NM_015120.4(ALMS1):c.8164C>T (p.Arg2722Ter) AND Alstrom syndrome / Pathogenic
- RCV000004186 - NM_000144.5(FXN):c.317T>G (p.Leu106Ter) AND Friedreich's ataxia / Pathogenic
- RCV000004188 - NM_000144.5(FXN):c.460A>T (p.Ile154Phe) AND Friedreich's ataxia / Pathogenic
- RCV000004193 - NM_017739.3(POMGNT1):c.1413+1G>T AND Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 / Pathogenic
- RCV000004201 - NM_017739.3(POMGNT1):c.187C>T (p.Arg63Ter) AND Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3 / Pathogenic
- RCV000004206 - NM_017739.3(POMGNT1):c.652+1G>A AND Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3 / Pathogenic
- RCV000004208 - NM_006348.3(COG5):c.1669-15A>G AND Congenital disorder of glycosylation type 2i / Pathogenic
- RCV000004213 - NC_000022.10:g.(?_18893735)_(18924066_?)del AND Schizophrenia 4 / risk factor
- RCV000004220 - NM_016335.5(PRODH):c.1363G>T (p.Ala455Ser) AND Proline dehydrogenase deficiency / Pathogenic
- RCV000004225 - NM_016335.5(PRODH):c.1292G>A (p.Arg431His) AND Schizophrenia 4 / risk factor
- RCV000004227 - NM_016335.5(PRODH):c.1397C>T (p.Thr466Met) AND Proline dehydrogenase deficiency / Conflicting interpretations of pathogenicity
- RCV000004232 - NM_206965.2(FTCD):c.403C>T (p.Arg135Cys) AND GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY / Pathogenic
- RCV000004239 - NM_000152.5(GAA):c.2173C>T (p.Arg725Trp) AND Glycogen storage disease II, adult form / Pathogenic
- RCV000004244 - NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) AND Glycogen storage disease type II, infantile / Pathogenic
- RCV000004251 - NM_000152.5(GAA):c.877G>A (p.Gly293Arg) AND Glycogen storage disease II, adult form / Pathogenic
- RCV000004256 - TPO, 20-BP DUP AND Deficiency of iodide peroxidase / Pathogenic
- RCV000004258 - NM_000547.5(TPO):c.1339A>T (p.Ile447Phe) AND Deficiency of iodide peroxidase / Pathogenic
- RCV000004263 - NM_000547.5(TPO):c.1943G>A (p.Arg648Gln) AND Deficiency of iodide peroxidase / Pathogenic
- RCV000004270 - NM_012213.3(MLYCD):c.560C>G (p.Ser187Ter) AND Deficiency of malonyl-CoA decarboxylase / Pathogenic
- RCV000004275 - NM_012213.3(MLYCD):c.119T>C (p.Met40Thr) AND Deficiency of malonyl-CoA decarboxylase / Pathogenic