Documented SETBP1-HD & SETBP1-related disorders Detailed Data

Individuals

*Hover over each lollipop to see specific variants.

*Click inside list and then use mousepad inside the list to move left/right or up/down.

*Only SETBP1 variants are shown above. Larger SETBP1 deletions and intronic alterations are not shown in the lollipop graph above but are listed in the table. Variants known to cause Schinzel-Giedion Syndrome (SGS) are not included on this page.