Total: 790676 genomic variation-disease records
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- RCV000004653 - NM_001166598.2(APOA5):c.56C>G (p.Ser19Trp) AND Hypertriglyceridemia, susceptibility to / risk factor
- RCV000004660 - NM_020919.4(ALS2):c.2537_2538del (p.Asn846fs) AND Infantile-onset ascending hereditary spastic paralysis / Pathogenic
- RCV000004665 - NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) AND Infantile-onset ascending hereditary spastic paralysis / Pathogenic
- RCV000004667 - NM_020919.4(ALS2):c.2143C>T (p.Gln715Ter) AND Infantile-onset ascending hereditary spastic paralysis / Pathogenic
- RCV000004672 - NM_031475.3(ESPN):c.2321G>A (p.Arg774Gln) AND Deafness, without vestibular involvement, autosomal dominant / Pathogenic
- RCV000004679 - NM_001195248.2(APTX):c.602A>G (p.His201Arg) AND Ataxia-oculomotor apraxia type 1 / Pathogenic
- RCV000004684 - NM_003978.5(PSTPIP1):c.748G>C (p.Glu250Gln) AND Pyogenic arthritis, pyoderma gangrenosum and acne / Pathogenic
- RCV000004691 - NM_001031681.2(CTNS):c.283G>T (p.Gly95Ter) AND Nephropathic cystinosis / Pathogenic
- RCV000004696 - nsv1067862 AND Nephropathic cystinosis / Pathogenic
- RCV000004699 - NM_001031681.2(CTNS):c.506G>A (p.Gly169Asp) AND Nephropathic cystinosis / Pathogenic
- RCV000004704 - NM_001031681.2(CTNS):c.589G>A (p.Gly197Arg) AND Cystinosis, ocular nonnephropathic / Pathogenic
- RCV000004711 - NM_001031681.2(CTNS):c.416C>T (p.Ser139Phe) AND Juvenile nephropathic cystinosis / Pathogenic
- RCV000004716 - NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) AND Schopf-Schulz-Passarge syndrome / Pathogenic
- RCV000004718 - NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) AND Odontoonychodermal dysplasia / Pathogenic
- RCV000004723 - NM_001039661.1(TIRAP):c.539C>T (p.Ser180Leu) AND Malaria, resistance to / protective
- RCV000004730 - NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) AND 22q13.3 deletion syndrome / Pathogenic
- RCV000004735 - NM_031433.4(MFRP):c.498dup (p.Asn167fs) AND Microphthalmia, isolated 5 / Pathogenic
- RCV000004737 - NM_016489.13(NT5C3A):c.529C>T (p.Gln177Ter) AND Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to / Pathogenic
- RCV000004742 - NM_016489.13(NT5C3A):c.592-1G>C AND Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to / Pathogenic
- RCV000004749 - NM_020451.3(SELENON):c.1397G>A (p.Arg466Gln) AND Eichsfeld type congenital muscular dystrophy / Pathogenic