FA2H | bioCADDIE Data Discovery Index
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Displaying 20 of 27 results for "FA2H"
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  1. NM_024306.4(FA2H):c.103G>T (p.Asp35Tyr) AND Spastic paraplegia 35 ClinVar

    Type: Variation

    Species: human

  2. NM_024306.4(FA2H):c.762C>T (p.Phe254=) AND not specified ClinVar

    Type: Variation

    Species: human

  3. NM_024306.4(FA2H):c.159_176del18 (p.Arg53_Ile58del) AND Spastic paraplegia 35 ClinVar

    Type: Variation

    Species: human

  4. NM_024306.4(FA2H):c.707T>C (p.Phe236Ser) AND Spastic paraplegia 35 ClinVar

    Type: Variation

    Species: human

  5. NM_024306.4(FA2H):c.289C>G (p.Pro97Ala) AND not specified ClinVar

    Type: Variation

    Species: human

  6. NM_024306.4(FA2H):c.460C>T (p.Arg154Cys) AND Spastic paraplegia 35 ClinVar

    Type: Variation

    Species: human

  7. NM_024306.4(FA2H):c.847G>A (p.Val283Ile) AND not specified ClinVar

    Type: Variation

    Species: human

  8. NM_024306.4(FA2H):c.510_511delCA (p.Tyr170Terfs) AND Spastic paraplegia 35 ClinVar

    Type: Variation

    Species: human

  9. FA2H, IVS5DS, G-A, +1 AND Spastic paraplegia 35 ClinVar

    Type: Variation

    Species: human

  10. NM_024306.4(FA2H):c.703C>T (p.Arg235Cys) AND Spastic paraplegia 35 ClinVar

    Type: Variation

    Species: human

  11. NM_024306.4(FA2H):c.*6C>G AND not specified ClinVar

    Type: Variation

    Species: human

  12. NM_024306.4(FA2H):c.933T>C (p.Tyr311=) AND not specified ClinVar

    Type: Variation

    Species: human

  13. NM_024306.4(FA2H):c.565C>T (p.Arg189Ter) AND Inborn genetic diseases ClinVar

    Type: Variation

    Species: human

  14. NM_024306.4(FA2H):c.888A>G (p.Val296=) AND not specified ClinVar

    Type: Variation

    Species: human

  15. NM_024306.4(FA2H):c.75_77delCTG (p.Cys25del) AND Spastic paraplegia ClinVar

    Type: Variation

    Species: human

  16. NM_024306.4(FA2H):c.338G>A (p.Arg113Gln) AND Spastic paraplegia ClinVar

    Type: Variation

    Species: human

  17. NM_024306.4(FA2H):c.879C>T (p.Pro293=) AND not specified ClinVar

    Type: Variation

    Species: human

  18. NM_024306.4(FA2H):c.517C>T (p.Pro173Ser) AND Spastic paraplegia 35 ClinVar

    Type: Variation

    Species: human

  19. NM_024306.4(FA2H):c.649G>A (p.Gly217Arg) AND Spastic paraplegia ClinVar

    Type: Variation

    Species: human

  20. NM_024306.4(FA2H):c.821_822delCT (p.Pro274Argfs) AND Spastic paraplegia ClinVar

    Type: Variation

    Species: human


Displaying 20 of 27 results for "FA2H"