CIBAR1 Chromosome 8

CBY1 interacting BAR domain containing 1

3 variants 3 Health Risk

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What This Gene Does

Enables phospholipid binding activity. Involved in several processes, including inner mitochondrial membrane organization; limb morphogenesis; and membrane tubulation. Located in several cellular components, including centriole; ciliary base; and mitochondrial crista. [provided by Alliance of Genome Resources, Jul 2025]

Associated Conditions (4)

Polydactyly

postaxial

type A9

Postaxial polydactyly type A

Key Variants

RS762464497

Likely pathogenic

Polydactyly, postaxial, type A9

Health Risk

RS368652620

Pathogenic

Postaxial polydactyly type A, Polydactyly, postaxial

Health Risk

RS373275688

Pathogenic

Polydactyly, postaxial, type A9

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS762464497	Health Risk	Likely pathogenic	Polydactyly, postaxial, type A9
RS368652620	Health Risk	Pathogenic	Postaxial polydactyly type A, Polydactyly, postaxial
RS373275688	Health Risk	Pathogenic	Polydactyly, postaxial, type A9