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 |
|---|---|---|---|
| RS140026883 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder |
| RS147844088 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1490434047 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS181413894 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, KIAA0586-related disorder |
| RS183168709 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder |
| RS188676684 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder |
| RS193056942 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS199537542 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS200127338 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, KIAA0586-related disorder |
| RS200722491 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder |
| RS201202020 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, KIAA0586-related disorder |
| RS201929144 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS202124602 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS368443727 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS370303493 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS372841738 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS531527716 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS547990270 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS556274091 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS61745095 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS747277541 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS750833160 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS751356878 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS767347007 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS771000156 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS773967297 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Inborn genetic diseases |
| RS776790149 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Inborn genetic diseases |
| RS779792778 | Health Risk | Conflicting classifications of pathogenicity | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Inborn genetic diseases |
| RS896789657 | Health Risk | Conflicting classifications of pathogenicity | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Inborn genetic diseases |
| RS1159793989 | Health Risk | Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1208252356 | Health Risk | Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1238313349 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1331480187 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1389086114 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1424747601 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS1431898844 | Health Risk | Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1473309166 | Health Risk | Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1566883760 | Health Risk | Likely pathogenic | Jeune thoracic dystrophy, Jeune thoracic dystrophy |
| RS1566903524 | Health Risk | Likely pathogenic | Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23 |
| RS1595428826 | Health Risk | Likely pathogenic | — |
| RS2042874013 | Health Risk | Likely pathogenic | — |
| RS2140707466 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2140763302 | Health Risk | Likely pathogenic | KIAA0586-related disorder, KIAA0586-related disorder |
| RS2140873364 | Health Risk | Likely pathogenic | Joubert syndrome 23, Joubert syndrome 23 |
| RS2140886548 | Health Risk | Likely pathogenic | Joubert syndrome 23, Joubert syndrome 23 |
| RS2141025675 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2542786100 | Health Risk | Likely pathogenic | Joubert syndrome 23, Joubert syndrome 23 |
| RS2543001967 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |
| RS2543334612 | Health Risk | Likely pathogenic | Joubert syndrome and related disorders, Joubert syndrome and related disorders |
| RS2543375994 | Health Risk | Likely pathogenic | Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly |