Total: 786979 genomic variation-disease records
« Previous
| page 17 of 39349 |
Next »
- RCV000000428 - NM_017841.2(SDHAF2):c.232G>A (p.Gly78Arg) AND Paragangliomas 2 / Pathogenic
- RCV000000433 - NM_000353.3(TAT):c.236-5A>G AND Tyrosinemia type 2 / Pathogenic
- RCV000000440 - NM_003730.6(RNASET2):c.550T>C (p.Cys184Arg) AND Leukoencephalopathy, cystic, without megalencephaly / Pathogenic
- RCV000000445 - NM_003730.6(RNASET2):c.567G>A (p.Gln189=) AND Leukoencephalopathy, cystic, without megalencephaly / Pathogenic
- RCV000000447 - NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala) AND Glycogen storage disease type X / Pathogenic
- RCV000000452 - NM_199074.1(NDUFAF3):c.-94-200T>C AND MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18 / Pathogenic
- RCV000000459 - NM_020312.4(COQ9):c.730C>T (p.Arg244Ter) AND Coenzyme Q10 deficiency, primary, 5 / Pathogenic
- RCV000000464 - NM_000110.3(DPYD):c.85T>C (p.Cys29Arg) AND Dihydropyrimidine dehydrogenase deficiency / Pathogenic
- RCV000000471 - NM_005581.4(BCAM):c.711C>A (p.Cys237Ter) AND BLOOD GROUP--LUTHERAN NULL / Pathogenic
- RCV000000476 - NM_133459.4(CCBE1):c.979G>C (p.Gly327Arg) AND Hennekam lymphangiectasia-lymphedema syndrome / Pathogenic
- RCV000000478 - NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys) AND Hennekam lymphangiectasia-lymphedema syndrome / Pathogenic
- RCV000000483 - NM_000097.7(CPOX):c.122_126GCAGC[3] (p.Gly45fs) AND Coproporphyria / Pathogenic
- RCV000000490 - NM_000097.7(CPOX):c.982C>T (p.Arg328Cys) AND Coproporphyria / Pathogenic
- RCV000000495 - NM_000035.4(ALDOB):c.865_867del (p.Leu289del) AND Hereditary fructosuria / Pathogenic
- RCV000000501 - NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) AND Hereditary fructosuria / Pathogenic/Likely pathogenic
- RCV000000506 - NM_000317.3(PTS):c.46C>T (p.Arg16Cys) AND Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency / Pathogenic
- RCV000000508 - NM_000317.3(PTS):c.155A>G (p.Asn52Ser) AND 6-pyruvoyl-tetrahydropterin synthase deficiency / Pathogenic
- RCV000000513 - NM_000317.3(PTS):c.286G>A (p.Asp96Asn) AND 6-pyruvoyl-tetrahydropterin synthase deficiency / Pathogenic
- RCV000000520 - NM_000320.3(QDPR):c.322T>G (p.Trp108Gly) AND Dihydropteridine reductase deficiency / Pathogenic
- RCV000000525 - NM_173560.4(RFX6):c.380+2T>C AND Mitchell-Riley syndrome / Pathogenic