Total: 723166 genomic variation-disease records
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- RCV000001152 - NM_000642.2(AGL):c.4529dupA (p.Tyr1510Terfs) AND Glycogen storage disease IIIa / Pathogenic
- RCV000001159 - NM_000642.2(AGL):c.1735+1G>T AND Glycogen storage disease IIIa / Pathogenic
- RCV000001164 - NM_000642.2(AGL):c.4259+5G>A AND Glycogen storage disease IIIb / Pathogenic
- RCV000001171 - NM_025137.3(SPG11):c.733_734delAT (p.Met245Valfs) AND Spastic paraplegia 11, autosomal recessive / Pathogenic
- RCV000001176 - NM_025137.4(SPG11):c.3068dup (p.Glu1026Argfs) AND Spastic paraplegia 11, autosomal recessive / Pathogenic
- RCV000001178 - NM_017875.3(SLC25A38):c.324_325delCT (p.Tyr109Leufs) AND Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive / Pathogenic
- RCV000001183 - NM_015139.2(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_001142617.1(STRA6):c.1931C>T (p.Thr644Met) AND Microphthalmia syndromic 9 / Pathogenic
- RCV000001198 - NM_022369.3(STRA6):c.50_52delACTinsCC (p.Asp17Alafs) AND Microphthalmia syndromic 9 / Pathogenic
- RCV000001203 - NM_014362.3(HIBCH):c.220-9T>G AND Beta-hydroxyisobutyryl-CoA deacylase deficiency / Pathogenic
- RCV000001210 - NM_152618.2(BBS12):c.1114_1115del (p.Phe372Terfs) 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_014846.3(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_032496.3(ARHGAP9):c.1108T>G (p.Ser370Ala) AND Coronary artery spasm 3, susceptibility to / Uncertain significance