Total: 789517 genomic variation-disease records
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- RCV000004080 - HEXB, 18-BP INS AND Hexosaminidase B (paris) / Pathogenic
- RCV000004085 - NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) AND HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM / Benign
- RCV000004087 - HEXB, PARTIAL DEL AND Sandhoff disease, infantile type / Pathogenic
- RCV000004092 - HEXB, 1-BP DEL, 965T AND Sandhoff disease, infantile / Pathogenic
- RCV000004100 - NM_000520.5(HEXA):c.533G>A (p.Arg178His) AND Tay-Sachs disease, B1 variant / Pathogenic
- RCV000004105 - NM_000520.5(HEXA):c.1496G>A (p.Arg499His) AND Gm2-gangliosidosis, juvenile / Pathogenic
- RCV000004107 - NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) AND Tay-Sachs disease / Pathogenic
- RCV000004112 - NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) AND Gm2-gangliosidosis, chronic / Pathogenic
- RCV000004119 - HEXA, IVS2, G-A, +1 AND Tay-Sachs disease / Pathogenic
- RCV000004124 - NM_000520.6(HEXA):c.546dup (p.Leu183fs) AND Tay-Sachs disease / Pathogenic
- RCV000004131 - NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) AND Tay-Sachs disease / Likely pathogenic
- RCV000004136 - NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) AND Tay-Sachs disease / Pathogenic
- RCV000004138 - NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) AND Tay-Sachs disease / Pathogenic
- RCV000004143 - HEXA, IVS7, G-A, +1 AND Tay-Sachs disease / Pathogenic
- RCV000004150 - SERPING1, EX7DEL AND Hereditary angioedema type 1 / Pathogenic
- RCV000004155 - NM_000062.2(SERPING1):c.1268dup (p.Tyr423Ter) AND Hereditary angioedema type 1 / Pathogenic
- RCV000004157 - NM_000062.2(SERPING1):c.1249+1G>T AND Hereditary angioedema type 1 / Pathogenic
- RCV000004162 - SERPING1, C-T, -103, PROMOTER AND Hereditary angioedema type 1 / Pathogenic
- RCV000004169 - NM_000356.4(TCOF1):c.4133_4137AAGAA[1] (p.Lys1380fs) AND Treacher Collins syndrome 1 / Pathogenic
- RCV000004174 - NM_000356.4(TCOF1):c.4134del (p.Glu1379fs) AND Treacher Collins syndrome 1 / Pathogenic