Total: 705131 genomic variation-disease records
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- RCV000003267 - NM_000218.2(KCNQ1):c.1022C>A (p.Ala341Glu) 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_000218.2(KCNQ1):c.1552C>T (p.Arg518Ter) AND Long QT syndrome 1, recessive / Pathogenic
- RCV000003284 - NM_000218.2(KCNQ1):c.1893dupC (p.Arg632Glnfs) AND Long QT syndrome 1 / Pathogenic
- RCV000003291 - NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) 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.Trp61Glyfs) AND Long QT syndrome 1/2, digenic / Pathogenic
- RCV000003304 - NM_139057.3(ADAMTS17):c.760C>T (p.Gln254Ter) AND Weill-Marchesani-like syndrome / Pathogenic
- RCV000003311 - NM_153000.4(APCDD1):c.26T>G (p.Leu9Arg) AND Hypotrichosis simplex / Pathogenic
- RCV000003316 - NM_000187.3(HGD):c.899T>G (p.Val300Gly) AND Alkaptonuria / Pathogenic/Likely pathogenic
- RCV000003318 - NM_000187.3(HGD):c.481G>A (p.Gly161Arg) AND Alkaptonuria / Pathogenic
- RCV000003323 - NM_000187.3(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_017653.4(DYM):c.763del (p.Thr255Glnfs) AND Dyggve-Melchior-Clausen syndrome / Pathogenic
- RCV000003337 - NM_017653.4(DYM):c.1405A>T (p.Asn469Tyr) AND Dyggve-Melchior-Clausen syndrome / Pathogenic
- RCV000003342 - NM_017653.4(DYM):c.1878del (p.Lys626Asnfs) AND Dyggve-Melchior-Clausen syndrome / Pathogenic
- RCV000003349 - NM_016038.3(SBDS):c.24C>A (p.Asn8Lys) AND Shwachman syndrome / Uncertain significance
- RCV000003354 - NM_006731.2(FKTN):c.187_188delAT (p.Met63Valfs) AND Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4 / Pathogenic
- RCV000003361 - NM_006731.2(FKTN):c.1363delG (p.Asp455Metfs) AND Limb-girdle muscular dystrophy-dystroglycanopathy, type C4 / Pathogenic
- RCV000003366 - NM_001079802.1(FKTN):c.373G>A (p.Gly125Ser) AND Fukuyama congenital muscular dystrophy / Uncertain significance