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 |
|---|---|---|---|
| RS2140875258 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2140886312 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2140887842 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2141193077 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2141202895 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2141430525 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2542458244 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2542787143 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2542819525 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2542904941 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2542905627 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2542947219 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2543003338 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2543107879 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2543152118 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2543152585 | Health Risk | Pathogenic | KIAA0586-related disorder, KIAA0586-related disorder |
| RS2543274107 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2543399660 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2543399761 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2543724955 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2543907543 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2544096591 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS2544164533 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS373763986 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS376338487 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS540255320 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS746158069 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS747711431 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS750592118 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS757350052 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome and related disorders |
| RS759888144 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS762081862 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS762932867 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS770566897 | Health Risk | Pathogenic | Joubert syndrome 23, Congenital cerebellar hypoplasia, Intellectual disability |
| RS773507064 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS774914799 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS776003330 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS778986624 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS780520735 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS796052128 | Health Risk | Pathogenic | Joubert syndrome 23, KIAA0586-related disorder, Joubert syndrome 23 |
| RS796052129 | Health Risk | Pathogenic | Joubert syndrome 23, Joubert syndrome 23 |
| RS797045119 | Health Risk | Pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS863225203 | Health Risk | Pathogenic | Joubert syndrome 23, Joubert syndrome 23 |
| RS869312856 | Health Risk | Pathogenic | Joubert syndrome 23, Joubert syndrome 23 |
| RS886039809 | Health Risk | Pathogenic | Joubert syndrome and related disorders, Joubert syndrome 23, Joubert syndrome and related disorders |
| RS942756021 | Health Risk | Pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1174594143 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1203751352 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1410766981 | Health Risk | Pathogenic/Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS1566843312 | Health Risk | Pathogenic/Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |