Total: 705131 genomic variation-disease records
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- RCV000003063 - NM_001033503.2(SAR1B):c.554G>T (p.Gly185Val) AND Chylomicron retention disease / Pathogenic
- RCV000003070 - NM_002076.3(GNS):c.1226_1227insG (p.Ser410Ilefs) AND Mucopolysaccharidosis, MPS-III-D / Pathogenic
- RCV000003075 - NM_001902.5(CTH):c.1208G>T (p.Ser403Ile) AND Homocysteine, total plasma, elevated / association
- RCV000003082 - RAI1, 29-BP DEL AND Smith-Magenis syndrome / Pathogenic
- RCV000003089 - XDH, 1-BP DEL, 2567C AND Deficiency of xanthine oxidase / Pathogenic
- RCV000003094 - NM_000271.4(NPC1):c.2974G>T (p.Gly992Trp) AND Niemann-Pick disease, type D / Pathogenic
- RCV000003097 - NM_000271.4(NPC1):c.3044_3097del54 AND Niemann-Pick disease, type C1, adult form / Pathogenic
- RCV000003102 - NM_000271.4(NPC1):c.2873G>A (p.Arg958Gln) AND Niemann-Pick disease type C1 / Pathogenic
- RCV000003109 - NPC1, IVS16, G-A, -82 AND Niemann-Pick disease type C1 / Pathogenic
- RCV000003114 - NM_000543.4(SMPD1):c.1493G>T (p.Arg498Leu) AND Niemann-Pick disease, type A / Pathogenic
- RCV000003121 - NM_000543.4(SMPD1):c.730G>A (p.Gly244Arg) AND Niemann-Pick disease, type B / Pathogenic
- RCV000003126 - NM_000543.4(SMPD1):c.1267C>T (p.His423Tyr) AND Niemann-Pick disease, type B / Pathogenic
- RCV000003128 - NM_000543.4(SMPD1):c.880C>A (p.Gln294Lys) AND Niemann-Pick disease, type B / Pathogenic
- RCV000003133 - NM_000226.3(KRT9):c.487C>T (p.Arg163Trp) AND Palmoplantar keratoderma, epidermolytic, with knuckle pads / Pathogenic
- RCV000003140 - NM_000226.3(KRT9):c.503T>C (p.Leu168Ser) AND Localized epidermolytic hyperkeratosis / Pathogenic
- RCV000003145 - NM_000226.3(KRT9):c.482A>T (p.Asn161Ile) AND Palmoplantar keratoderma, epidermolytic, with knuckle pads / Pathogenic
- RCV000003147 - NM_133497.3(KCNV2):c.916G>T (p.Glu306Ter) AND Retinal cone dystrophy 3B / Pathogenic
- RCV000003152 - NM_176824.2(BBS7):c.632C>T (p.Thr211Ile) AND Bardet-Biedl syndrome 1/7, digenic / Pathogenic
- RCV000003159 - NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) AND Ataxia-telangiectasia variant / Pathogenic
- RCV000003164 - NM_000051.3(ATM):c.103C>T (p.Arg35Ter) AND Ataxia-telangiectasia syndrome / Pathogenic