DOCK6 Chromosome 19

Dedicator of cytokinesis 6

92 variants 92 Health Risk

Upload your DNA to see your personal genotypes for variants in DOCK6.

What This Gene Does

This gene encodes a member of the dedicator of cytokinesis (DOCK) family of atypical guanine nucleotide exchange factors. Guanine nucleotide exchange factors interact with small GTPases and are components of intracellular signaling networks. The encoded protein is a group C DOCK protein and plays a role in actin cytoskeletal reorganization by activating the Rho GTPases Cdc42 and Rac1. Mutations in this gene are associated with Adams-Oliver syndrome 2. [provided by RefSeq, Dec 2011]

Gene Info

Gene Group

DOCK family Rho GEFs

Locus Type

gene with protein product

Location

19p13.2

Ensembl

ENSG00000130158

Associated Conditions (13)

DOCK6-related disorder

Intellectual disability

Bone Paget disease

Adams-Oliver syndrome 2

Inborn genetic diseases

See cases

Microcephaly

Malignant tumor of urinary bladder

Sarcoma

Nonpapillary renal cell carcinoma

Ovarian serous cystadenocarcinoma

Adams-Oliver syndrome 1

Adams-Oliver syndrome

Key Variants

RS115035890

Conflicting classifications of pathogenicity

Health Risk

RS183060698

Conflicting classifications of pathogenicity

Intellectual disability, Bone Paget disease, DOCK6-related disorder

Health Risk

RS199838752

Conflicting classifications of pathogenicity

Adams-Oliver syndrome 2, DOCK6-related disorder, Adams-Oliver syndrome 2

Health Risk

RS199922090

Conflicting classifications of pathogenicity

Health Risk

RS200042437

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS200390354

Conflicting classifications of pathogenicity

Health Risk

RS200393834

Conflicting classifications of pathogenicity

Health Risk

RS200408941

Conflicting classifications of pathogenicity

Inborn genetic diseases, Inborn genetic diseases

Health Risk

RS200935357

Conflicting classifications of pathogenicity

Adams-Oliver syndrome 2, DOCK6-related disorder, Inborn genetic diseases

Health Risk

RS201065561

Conflicting classifications of pathogenicity

Adams-Oliver syndrome 2, DOCK6-related disorder, Inborn genetic diseases

Health Risk

RS201738818

Conflicting classifications of pathogenicity

Health Risk

RS202209921

Conflicting classifications of pathogenicity

Inborn genetic diseases, DOCK6-related disorder, Inborn genetic diseases

Health Risk

All Variants (92)

RSID	Category	Clinical Significance	Conditions
RS936266747	Health Risk	Likely pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS954138495	Health Risk	Likely pathogenic	—
RS1169086609	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1192375765	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1198436520	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1226716539	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1232184969	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1238075992	Health Risk	Pathogenic	—
RS1321312835	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1555688690	Health Risk	Pathogenic	—
RS1555826472	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS1568227699	Health Risk	Pathogenic	—
RS201387914	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Inborn genetic diseases, DOCK6-related disorder
RS2079476596	Health Risk	Pathogenic	—
RS2147852182	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS2512923474	Health Risk	Pathogenic	—
RS2512937682	Health Risk	Pathogenic	—
RS2513034053	Health Risk	Pathogenic	—
RS2513156379	Health Risk	Pathogenic	—
RS2513161109	Health Risk	Pathogenic	—
RS2513214903	Health Risk	Pathogenic	—
RS369389970	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS376648777	Health Risk	Pathogenic	—
RS397509398	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS397509399	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS568049240	Health Risk	Pathogenic	Inborn genetic diseases, Inborn genetic diseases
RS747575528	Health Risk	Pathogenic	Adams-Oliver syndrome 2, DOCK6-related disorder, Adams-Oliver syndrome 2
RS760412099	Health Risk	Pathogenic	—
RS768245540	Health Risk	Pathogenic	—
RS772381647	Health Risk	Pathogenic	—
RS772543889	Health Risk	Pathogenic	—
RS867039578	Health Risk	Pathogenic	—
RS879255610	Health Risk	Pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS967045461	Health Risk	Pathogenic	—
RS1555697020	Health Risk	Pathogenic/Likely pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS2513039217	Health Risk	Pathogenic/Likely pathogenic	Adams-Oliver syndrome 2, DOCK6-related disorder, Adams-Oliver syndrome 2
RS372751467	Health Risk	Pathogenic/Likely pathogenic	Adams-Oliver syndrome 1, DOCK6-related disorder, Adams-Oliver syndrome 1
RS374530179	Health Risk	Pathogenic/Likely pathogenic	Adams-Oliver syndrome, Adams-Oliver syndrome 2, Adams-Oliver syndrome
RS730882238	Health Risk	Pathogenic/Likely pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome, Inborn genetic diseases
RS752015120	Health Risk	Pathogenic/Likely pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS765129469	Health Risk	Pathogenic/Likely pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome, Adams-Oliver syndrome 2
RS775397068	Health Risk	Pathogenic/Likely pathogenic	Adams-Oliver syndrome 2, Adams-Oliver syndrome 2

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