OPHN1 | bioCADDIE Data Discovery Index
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Displaying 20 of 34 results for "OPHN1"
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  1. NM_002547.2(OPHN1):c.1126A>G (p.Lys376Glu) AND not specified ClinVar

    Type: Variation

    Species: human

  2. NM_002547.2(OPHN1):c.1722G>A (p.Pro574=) AND not specified ClinVar

    Type: Variation

    Species: human

  3. NM_002547.2(OPHN1):c.1749A>C (p.Ala583=) AND not specified ClinVar

    Type: Variation

    Species: human

  4. NM_002547.2(OPHN1):c.2029C>A (p.Leu677Met) AND not specified ClinVar

    Type: Variation

    Species: human

  5. NM_002547.2(OPHN1):c.1613A>G (p.Asp538Gly) AND not specified ClinVar

    Type: Variation

    Species: human

  6. NM_002547.2(OPHN1):c.902C>T (p.Thr301Met) AND not specified ClinVar

    Type: Variation

    Species: human

  7. NM_002547.2(OPHN1):c.333G>A (p.Leu111=) AND not specified ClinVar

    Type: Variation

    Species: human

  8. NM_002547.2(OPHN1):c.702+11A>C AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance ClinVar

    Type: Variation

    Species: human

  9. NM_002547.2(OPHN1):c.2079G>A (p.Met693Ile) AND not specified ClinVar

    Type: Variation

    Species: human

  10. NM_002547.2(OPHN1):c.903G>C (p.Thr301=) AND not specified ClinVar

    Type: Variation

    Species: human

  11. NM_002547.2(OPHN1):c.702+8T>C AND not specified ClinVar

    Type: Variation

    Species: human

  12. NM_002547.2(OPHN1):c.1830C>T (p.Ser610=) AND not specified ClinVar

    Type: Variation

    Species: human

  13. NM_002547.2(OPHN1):c.496C>T (p.Gln166Ter) AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance ClinVar

    Type: Variation

    Species: human

  14. NM_002547.2(OPHN1):c.2159-4C>T AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance ClinVar

    Type: Variation

    Species: human

  15. OPHN1, 8-BP DUP AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance ClinVar

    Type: Variation

    Species: human

  16. OPHN1, 2-BP DEL, NT642 AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance ClinVar

    Type: Variation

    Species: human

  17. OPHN1, 17.6-KB DEL AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance ClinVar

    Type: Variation

    Species: human

  18. OPHN1, 1-BP DEL, NT1578 AND Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance ClinVar

    Type: Variation

    Species: human

  19. NM_002547.2(OPHN1):c.2029C>A (p.Leu677Met) AND not provided ClinVar

  20. NM_002547.2(OPHN1):c.2056C>T (p.Pro686Ser) AND not specified ClinVar

    Species: human


Displaying 20 of 34 results for "OPHN1"