Total: 786979 genomic variation-disease records
« Previous
| page 1 of 39349 |
Next »
- RCV000001152 - NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter) AND Glycogen storage disease IIIa / Pathogenic
- RCV000001159 - NM_000642.3(AGL):c.1735+1G>T AND Glycogen storage disease IIIa / Pathogenic
- RCV000001164 - NM_000642.3(AGL):c.4259+5G>A AND Glycogen storage disease IIIb / Pathogenic
- RCV000001171 - NM_025137.4(SPG11):c.733_734del (p.Met245fs) AND Spastic paraplegia 11, autosomal recessive / Pathogenic
- RCV000001176 - NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) AND Spastic paraplegia 11, autosomal recessive / Pathogenic
- RCV000001178 - NM_017875.4(SLC25A38):c.320_321CT[2] (p.Tyr109fs) AND Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive / Pathogenic
- RCV000001183 - NM_015139.3(SLC35D1):c.932G>A (p.Trp311Ter) AND Schneckenbecken dysplasia / Pathogenic
- RCV000001190 - NM_014908.3(DOLK):c.295T>A (p.Cys99Ser) AND Congenital disorder of glycosylation type 1M / Pathogenic
- RCV000001195 - NM_022369.4(STRA6):c.1931C>T (p.Thr644Met) AND Microphthalmia syndromic 9 / Pathogenic
- RCV000001198 - NM_022369.4(STRA6):c.50_52delinsCC (p.Asp17fs) AND Microphthalmia syndromic 9 / Pathogenic
- RCV000001203 - NM_014362.4(HIBCH):c.220-9T>G AND Beta-hydroxyisobutyryl-CoA deacylase deficiency / Pathogenic
- RCV000001210 - NM_001178007.1(BBS12):c.1115_1116del (p.Gly371_Phe372insTer) AND Bardet-Biedl syndrome 12 / Pathogenic
- RCV000001215 - PFKM, IVS5DS, G-A, +1 AND Glycogen storage disease, type VII / Pathogenic
- RCV000001217 - NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) AND Glycogen storage disease, type VII / Pathogenic
- RCV000001222 - NM_014846.4(WASHC5):c.1411A>G (p.Asn471Asp) AND Spastic paraplegia 8 / Pathogenic
- RCV000001229 - NM_000505.3(F12):c.983C>G (p.Thr328Arg) AND Hereditary angioneurotic edema with normal C1 esterase inhibitor activity / Pathogenic
- RCV000001234 - CYP11B1, 2-BP INS AND Deficiency of steroid 11-beta-monooxygenase / Pathogenic
- RCV000001241 - CYP11B1, CYP11B1/CYP11B2 CHIMERA AND Deficiency of steroid 11-beta-monooxygenase / Pathogenic
- RCV000001246 - NM_000497.3(CYP11B1):c.1103C>A (p.Ala368Asp) AND Deficiency of steroid 11-beta-monooxygenase / Pathogenic
- RCV000001248 - NM_032496.4(ARHGAP9):c.1108T>G (p.Ser370Ala) AND Coronary artery spasm 3, susceptibility to / Uncertain significance