KIAA0586 Chromosome 14
KIAA0586
Upload your DNA to see your personal genotypes for variants in KIAA0586.
What This Gene Does
This gene encodes a conserved centrosomal protein that functions in ciliogenesis and responds to hedgehog signaling. Mutations in this gene causes Joubert syndrome 23. Alternative splicing results in multiple transcript variants and protein isoforms. [provided by RefSeq, Aug 2016]
Associated Conditions (17)
Joubert syndrome 23
Short-rib thoracic dysplasia 14 with polydactyly
KIAA0586-related disorder
Inborn genetic diseases
Jeune thoracic dystrophy
Joubert syndrome and related disorders
Ciliopathy
Clear cell carcinoma of kidney
Meckel-Gruber syndrome
Congenital cerebellar hypoplasia
Intellectual disability
Rod-cone dystrophy
Neurodevelopmental disorder
Joubert syndrome
Retinal dystrophy
KIAA0586- Related disorders
Primary ciliary dyskinesia
Key Variants
RS140026883
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder
Health Risk
RS147844088
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
Health Risk
RS1490434047
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
Health Risk
RS181413894
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, KIAA0586-related disorder
Health Risk
RS183168709
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder
Health Risk
RS188676684
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder
Health Risk
RS193056942
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases
Health Risk
RS199537542
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases
Health Risk
RS200127338
Conflicting classifications of pathogenicity
Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, KIAA0586-related disorder
Health Risk
RS200722491
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder
Health Risk
RS201202020
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder
Health Risk
RS201929144
Conflicting classifications of pathogenicity
Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases
Health Risk
All Variants (160)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2543762704 | Health Risk | Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2543902802 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2544559501 | Health Risk | Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS531197147 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS752709426 | Health Risk | Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS753649082 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Ciliopathy |
| RS762905862 | Health Risk | Likely pathogenic | Joubert syndrome 23, Joubert syndrome 23 |
| RS763815640 | Health Risk | Likely pathogenic | Clear cell carcinoma of kidney, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS765227931 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS772739103 | Health Risk | Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS886039806 | Health Risk | Likely pathogenic | Meckel-Gruber syndrome, Meckel-Gruber syndrome |
| RS907814338 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS939669886 | Health Risk | Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS982449380 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1008358256 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1039246955 | Health Risk | Pathogenic | — |
| RS1057516038 | Health Risk | Pathogenic | Joubert syndrome 23, Joubert syndrome 23 |
| RS1064793157 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1201009622 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1232900431 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1237632090 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1253807820 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1272638490 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1301378192 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1307758243 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1313375310 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1364954371 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1383490784 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1425019451 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1432780165 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1555378721 | Health Risk | Pathogenic | — |
| RS1566827747 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS201097695 | Health Risk | Pathogenic | Joubert syndrome 23, Joubert syndrome 23 |
| RS2038350104 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2038512511 | Health Risk | Pathogenic | — |
| RS2040056901 | Health Risk | Pathogenic | Joubert syndrome 23, Joubert syndrome 23 |
| RS2040059119 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2040187420 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2040191088 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2040876556 | Health Risk | Pathogenic | Joubert syndrome 23, Joubert syndrome 23 |
| RS2043343702 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2140098022 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2140128017 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2140128191 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2140372917 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2140565674 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2140664007 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2140706563 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2140844892 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2140873534 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |