Total: 789517 genomic variation-disease records
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- RCV000003253 - NM_005670.4(EPM2A):c.94T>G (p.Trp32Gly) AND Lafora disease / Pathogenic
- RCV000003260 - NM_181798.1(KCNQ1):c.151G>C (p.Ala51Pro) AND Long QT syndrome 1 / Pathogenic
- RCV000003265 - NM_181798.1(KCNQ1):c.379G>A (p.Val127Met) AND Long QT syndrome 1 / Pathogenic
- RCV000003267 - NM_181798.1(KCNQ1):c.641C>A (p.Ala214Glu) AND Long QT syndrome 1 / Pathogenic
- RCV000003272 - NM_000218.2(KCNQ1):c.1630_1635delCAGTACinsGTTGAGA (p.Gln544Valfs) AND Jervell and Lange-Nielsen syndrome 1 / Pathogenic
- RCV000003279 - NM_181798.1(KCNQ1):c.1171C>T (p.Arg391Ter) AND Long QT syndrome 1, recessive / Pathogenic
- RCV000003284 - NM_181798.1(KCNQ1):c.1512dup (p.Arg505fs) AND Long QT syndrome 1 / Pathogenic
- RCV000003291 - NM_181798.1(KCNQ1):c.1366C>T (p.Arg456Cys) AND Long QT syndrome 1 / Pathogenic
- RCV000003296 - NM_000218.2(KCNQ1):c.[1249G>A;760G>A] AND Long QT syndrome 1 / Pathogenic
- RCV000003299 - NM_181798.1(KCNQ1):c.181del (p.Trp61fs) AND Long QT syndrome 1/2, digenic / Pathogenic
- RCV000003304 - NM_139057.4(ADAMTS17):c.760C>T (p.Gln254Ter) AND Weill-Marchesani syndrome 4 / Pathogenic
- RCV000003311 - NM_153000.5(APCDD1):c.26T>G (p.Leu9Arg) AND Hypotrichosis simplex / Pathogenic
- RCV000003316 - NM_000187.4(HGD):c.899T>G (p.Val300Gly) AND Alkaptonuria / Pathogenic/Likely pathogenic
- RCV000003318 - NM_000187.4(HGD):c.481G>A (p.Gly161Arg) AND Alkaptonuria / Pathogenic
- RCV000003323 - NM_000187.4(HGD):c.1102A>G (p.Met368Val) AND Alkaptonuria / Pathogenic
- RCV000003330 - NM_138477.4(CDAN1):c.2602T>A (p.Phe868Ile) AND Congenital dyserythropoietic anemia, type I / Pathogenic
- RCV000003335 - NM_017653.5(DYM):c.763del (p.Thr255fs) AND Dyggve-Melchior-Clausen syndrome / Pathogenic
- RCV000003337 - NM_017653.5(DYM):c.1405A>T (p.Asn469Tyr) AND Dyggve-Melchior-Clausen syndrome / Pathogenic
- RCV000003342 - NM_017653.5(DYM):c.1878del (p.Lys626fs) AND Dyggve-Melchior-Clausen syndrome / Pathogenic
- RCV000003349 - NM_016038.4(SBDS):c.24C>A (p.Asn8Lys) AND Shwachman syndrome / Uncertain significance