Total: 723166 genomic variation-disease records
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- RCV000001864 - NM_000102.3(CYP17A1):c.278T>G (p.Phe93Cys) AND Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency / Pathogenic
- RCV000001871 - NM_000102.3(CYP17A1):c.985T>G (p.Tyr329Asp) AND Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency / Pathogenic
- RCV000001876 - NM_000102.3(CYP17A1):c.374G>A (p.Arg125Gln) AND Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency / Pathogenic
- RCV000001878 - CYP17A1, 9-BP DEL AND Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency / Pathogenic
- RCV000001883 - NM_152594.2(SPRED1):c.70C>T (p.Arg24Ter) AND Legius syndrome / Pathogenic
- RCV000001890 - NM_018451.4(CENPJ):c.17delC (p.Ser7Leufs) AND Primary autosomal recessive microcephaly 6 / Pathogenic
- RCV000001895 - NM_016302.3(CRBN):c.1255C>T (p.Arg419Ter) AND Mental retardation, autosomal recessive 2 / Pathogenic
- RCV000001898 - NM_005767.5(LPAR6):c.463C>T (p.Gln155Ter) AND Hypotrichosis 8 / Pathogenic
- RCV000001903 - NM_005767.5(LPAR6):c.565G>A (p.Glu189Lys) AND Hypotrichosis 8 / Pathogenic
- RCV000001910 - MRAP, IVS3, G-T, +1 AND Glucocorticoid deficiency 2 / Pathogenic
- RCV000001915 - NM_206898.1(MRAP):c.3G>A (p.Met1Ile) AND Glucocorticoid deficiency 2 / Pathogenic
- RCV000001917 - NM_206898.1(MRAP):c.17_23del (p.Asn6Metfs) AND Glucocorticoid deficiency 2 / Pathogenic
- RCV000001922 - NM_138701.3(MPLKIP):c.148_152del (p.His50Alafs) AND Trichothiodystrophy, nonphotosensitive 1 / Pathogenic
- RCV000001929 - NM_152783.4(D2HGDH):c.685-2A>G AND D-2-hydroxyglutaric aciduria 1 / Pathogenic
- RCV000001934 - NM_014053.3(FLVCR1):c.721G>A (p.Ala241Thr) AND Posterior column ataxia with retinitis pigmentosa / Pathogenic
- RCV000001941 - PDCD10, 586C-T AND Cerebral cavernous malformations 3 / Pathogenic
- RCV000001946 - PDCD10, IVS8AS, G-A, -1 AND Cerebral cavernous malformations 3 / Pathogenic
- RCV000001948 - NM_007252.3(POU6F2):c.573G>T (p.Gln191His) AND Wilms tumor and radial bilateral aplasia / Pathogenic
- RCV000001953 - NM_020376.3(PNPLA2):c.865C>T (p.Gln289Ter) AND Neutral lipid storage disease with myopathy / Pathogenic
- RCV000001960 - MUT, 2-BP DEL, 769CA AND METHYLMALONIC ACIDURIA, mut(-) TYPE / Pathogenic