Total: 790676 genomic variation-disease records
« Previous
| page 1 of 39534 |
Next »
- 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
- RCV000000527 - NM_173560.4(RFX6):c.672+2T>G AND Mitchell-Riley syndrome / Pathogenic
- RCV000000532 - NM_001010892.3(RSPH4A):c.460C>T (p.Gln154Ter) AND Ciliary dyskinesia, primary, 11 / Pathogenic
- RCV000000539 - NM_001142446.2(ANK1):c.5620C>T (p.Arg1874Ter) AND Spherocytosis type 1 / Pathogenic
- RCV000000544 - NM_001193375.2(NDUFA11):c.97+5G>A AND MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14 / Pathogenic
- RCV000000551 - NM_001999.4(FBN2):c.4346-2A>T AND Congenital contractural arachnodactyly / Pathogenic
- RCV000000556 - NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp) AND Congenital contractural arachnodactyly / Pathogenic
- RCV000000558 - NM_018139.2(DNAAF2):c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) AND Ciliary dyskinesia, primary, 10 / Pathogenic
- RCV000000563 - NM_025000.4(DCAF17):c.1091+6T>G AND Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities / Pathogenic
- RCV000000570 - NM_017866.6(TMEM70):c.317-2A>G AND Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2 / Pathogenic
- RCV000000575 - NM_001145308.4(LRTOMT):c.328G>A (p.Glu110Lys) AND Deafness, autosomal recessive 63 / Pathogenic
- RCV000000577 - NM_152416.4(NDUFAF6):c.296A>G (p.Gln99Arg) AND MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17 / Pathogenic
- RCV000000582 - NM_000140.4(FECH):c.1077+1G>A AND Erythropoietic protoporphyria / Pathogenic
- RCV000000589 - NM_000140.4(FECH):c.194+11A>G AND Erythropoietic protoporphyria / Pathogenic
- RCV000000594 - NM_018344.6(SLC29A3):c.1330G>T (p.Glu444Ter) AND Histiocytosis-lymphadenopathy plus syndrome / Pathogenic
- RCV000000597 - NM_018344.6(SLC29A3):c.940del (p.Tyr314fs) AND Histiocytosis-lymphadenopathy plus syndrome / Pathogenic
- RCV000000602 - NM_000893.4(KNG1):c.586C>T (p.Arg196Ter) AND Kininogen deficiency, total / Pathogenic