KIAA0586 (KIAA0586) - Rat Genome Database

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Gene: KIAA0586 (KIAA0586) Homo sapiens
Analyze
Symbol: KIAA0586
Name: KIAA0586
RGD ID: 1323087
HGNC Page HGNC:19960
Description: Acts upstream of or within cilium assembly and regulation of establishment of protein localization. Located in centrosome and ciliary basal body. Implicated in Joubert syndrome 23 and short-rib thoracic dysplasia 14 with polydactyly.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: JBTS23; ortholog of chicken talpid{3}; SRTD14; Talpid3; uncharacterized protein KIAA0586
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381458,427,400 - 58,562,090 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1458,427,385 - 58,551,297 (+)EnsemblGRCh38hg38GRCh38
GRCh371458,894,118 - 59,018,015 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361457,964,463 - 58,085,302 (+)NCBINCBI36Build 36hg18NCBI36
Build 341457,963,906 - 58,084,594NCBI
Celera1438,944,687 - 39,065,541 (+)NCBICelera
Cytogenetic Map14q23.1NCBI
HuRef1439,058,725 - 39,179,936 (+)NCBIHuRef
CHM1_11458,832,650 - 58,954,044 (+)NCBICHM1_1
T2T-CHM13v2.01452,634,436 - 52,767,919 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal 5th metacarpal morphology  (IAGP)
Abnormal acetabulum morphology  (IAGP)
Abnormal basal ganglia morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal cerebellum morphology  (IAGP)
Abnormal corpus callosum morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal optic disc morphology  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormality of eye movement  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Absent septum pellucidum  (IAGP)
Absent speech  (IAGP)
Accessory oral frenulum  (IAGP)
Aganglionic megacolon  (IAGP)
Anencephaly  (IAGP)
Anteverted nares  (IAGP)
Aplasia of the olfactory bulb  (IAGP)
Aplasia/Hypoplasia involving bones of the thorax  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aplastic clavicle  (IAGP)
Apnea  (IAGP)
Ataxia  (IAGP)
Atrial septal defect  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bell-shaped thorax  (IAGP)
Biparietal narrowing  (IAGP)
Brachydactyly  (IAGP)
Cerebellar dysplasia  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cervical spinal canal stenosis  (IAGP)
Chronic lung disease  (IAGP)
Cleft palate  (IAGP)
Coloboma  (IAGP)
Colpocephaly  (IAGP)
Cone-shaped epiphysis  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congenital diaphragmatic hernia  (IAGP)
Congenital onset  (IAGP)
Dandy-Walker malformation  (IAGP)
Depressed nasal bridge  (IAGP)
Dilated third ventricle  (IAGP)
Duane anomaly  (IAGP)
Dysgenesis of the cerebellar vermis  (IAGP)
Dysplastic corpus callosum  (IAGP)
Early ossification of capital femoral epiphyses  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elongated superior cerebellar peduncle  (IAGP)
Encephalocele  (IAGP)
Enlarged cisterna magna  (IAGP)
Epicanthus  (IAGP)
Episodic tachypnea  (IAGP)
Failure to thrive  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Foot polydactyly  (IAGP)
Frontal bossing  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hamartoma of tongue  (IAGP)
Hand polydactyly  (IAGP)
Highly arched eyebrow  (IAGP)
Hydrocephalus  (IAGP)
Hydrops fetalis  (IAGP)
Hyperechogenic kidneys  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hyporeflexia  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased intracranial pressure  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Lateral ventricle dilatation  (IAGP)
Long clavicles  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Meningocele  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Micropenis  (IAGP)
Molar tooth sign on MRI  (IAGP)
Myopia  (IAGP)
Narrow chest  (IAGP)
Nystagmus  (IAGP)
Occipital encephalocele  (IAGP)
Occipital meningocele  (IAGP)
Oculomotor apraxia  (IAGP)
Open operculum  (IAGP)
Orofacial cleft  (IAGP)
Overfolded helix  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Polydactyly  (IAGP)
Polyhydramnios  (IAGP)
Polymicrogyria  (IAGP)
Postaxial polydactyly  (IAGP)
Preaxial polydactyly  (IAGP)
Prominent nasal bridge  (IAGP)
Proximal femoral metaphyseal irregularity  (IAGP)
Ptosis  (IAGP)
Pulmonary hypoplasia  (IAGP)
Recurrent aspiration pneumonia  (IAGP)
Recurrent respiratory infections  (IAGP)
Redundant neck skin  (IAGP)
Renal cortical cysts  (IAGP)
Renal dysplasia  (IAGP)
Renal insufficiency  (IAGP)
Retinal coloboma  (IAGP)
Retinal dystrophy  (IAGP)
Rhizomelic arm shortening  (IAGP)
Rhizomelic leg shortening  (IAGP)
Rod-cone dystrophy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short digit  (IAGP)
Short neck  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Situs inversus totalis  (IAGP)
Small cervical vertebral bodies  (IAGP)
Strabismus  (IAGP)
Subretinal deposits  (IAGP)
Supernumerary nipple  (IAGP)
Tachypnea  (IAGP)
Thoracic hypoplasia  (IAGP)
Tremor  (IAGP)
Twelfth rib hypoplasia  (IAGP)
Ventriculomegaly  (IAGP)
Visual loss  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
3. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9628581   PMID:12477932   PMID:14702039   PMID:15146197   PMID:15489334   PMID:16344560   PMID:16702409   PMID:18029348   PMID:19144723   PMID:20301500   PMID:21399614   PMID:21873635  
PMID:23314748   PMID:24163370   PMID:24421332   PMID:24613305   PMID:26026149   PMID:26096313   PMID:26166481   PMID:26386044   PMID:26386247   PMID:26496610   PMID:26638075   PMID:26972000  
PMID:27146717   PMID:27337956   PMID:28514442   PMID:29396404   PMID:29507755   PMID:30120217   PMID:30258116   PMID:30948266   PMID:30988386   PMID:31326647   PMID:32381069   PMID:33326788  
PMID:33961781   PMID:34079125   PMID:36538006   PMID:36779422   PMID:37689310  


Genomics

Comparative Map Data
KIAA0586
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381458,427,400 - 58,562,090 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1458,427,385 - 58,551,297 (+)EnsemblGRCh38hg38GRCh38
GRCh371458,894,118 - 59,018,015 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361457,964,463 - 58,085,302 (+)NCBINCBI36Build 36hg18NCBI36
Build 341457,963,906 - 58,084,594NCBI
Celera1438,944,687 - 39,065,541 (+)NCBICelera
Cytogenetic Map14q23.1NCBI
HuRef1439,058,725 - 39,179,936 (+)NCBIHuRef
CHM1_11458,832,650 - 58,954,044 (+)NCBICHM1_1
T2T-CHM13v2.01452,634,436 - 52,767,919 (+)NCBIT2T-CHM13v2.0
2700049A03Rik
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391271,183,627 - 71,356,273 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1271,183,622 - 71,290,077 (+)EnsemblGRCm39 Ensembl
GRCm381271,136,848 - 71,309,964 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1271,136,848 - 71,243,303 (+)EnsemblGRCm38mm10GRCm38
MGSCv371272,237,835 - 72,344,290 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361272,055,453 - 72,161,908 (+)NCBIMGSCv36mm8
Celera1272,236,880 - 72,343,837 (+)NCBICelera
Cytogenetic Map12C2- C3NCBI
cM Map1229.39NCBI
Kiaa0586
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8695,358,682 - 95,461,911 (+)NCBIGRCr8
mRatBN7.2689,622,711 - 89,725,951 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl689,623,699 - 89,725,962 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0693,562,775 - 93,667,857 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl693,563,446 - 93,667,675 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06103,028,333 - 103,132,393 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4693,232,479 - 93,337,602 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Cytogenetic Map6q24NCBI
Kiaa0586
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546612,126,184 - 12,243,170 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546612,125,559 - 12,240,991 (+)NCBIChiLan1.0ChiLan1.0
KIAA0586
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21559,549,347 - 59,668,638 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11458,765,860 - 58,885,152 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01439,019,518 - 39,139,460 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11457,287,138 - 57,405,914 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1457,288,938 - 57,405,726 (+)Ensemblpanpan1.1panPan2
KIAA0586
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1833,771,357 - 33,880,910 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl833,771,504 - 33,880,877 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha833,532,622 - 33,641,570 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0834,012,799 - 34,121,869 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl834,012,822 - 34,121,869 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1833,625,277 - 33,734,052 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0833,693,413 - 33,802,383 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0834,067,772 - 34,176,748 (+)NCBIUU_Cfam_GSD_1.0
Kiaa0586
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864071,258,385 - 71,391,968 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364952,800,384 - 2,931,856 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364952,799,738 - 2,933,157 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
KIAA0586
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1187,504,638 - 187,642,492 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11187,504,694 - 187,642,492 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21208,474,570 - 208,527,144 (+)NCBISscrofa10.2Sscrofa10.2susScr3
KIAA0586
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12435,606,816 - 35,733,490 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2435,606,714 - 35,734,346 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605323,885,177 - 24,007,264 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Kiaa0586
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248843,478,065 - 3,625,711 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248843,477,240 - 3,624,420 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in KIAA0586
1218 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001244189.1(KIAA0586):c.4655-1206T>G single nucleotide variant Lung cancer [RCV000098958] Chr14:58542677 [GRCh38]
Chr14:59009395 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2373A>G (p.Val791=) single nucleotide variant KIAA0586-related condition [RCV003893967] Chr14:58467853 [GRCh38]
Chr14:58934571 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2945-10_2945-9del deletion KIAA0586-related condition [RCV003932089] Chr14:58482493..58482494 [GRCh38]
Chr14:58949211..58949212 [GRCh37]
Chr14:14q23.1		 likely benign
GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1 copy number loss See cases [RCV000051521] Chr14:57041036..67208231 [GRCh38]
Chr14:57507754..67674948 [GRCh37]
Chr14:56577507..66744701 [NCBI36]
Chr14:14q22.3-23.3		 pathogenic
GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1 copy number loss See cases [RCV000051522] Chr14:58146022..61273619 [GRCh38]
Chr14:58612740..61740337 [GRCh37]
Chr14:57682493..60810090 [NCBI36]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2407T>G (p.Ser803Ala) single nucleotide variant Meckel-Gruber syndrome [RCV000256428] Chr14:58467887 [GRCh38]
Chr14:58934605 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.4032del (p.Arg1344fs) deletion Joubert syndrome 23 [RCV000985174]|Joubert syndrome and related disorders [RCV000256462] Chr14:58498824 [GRCh38]
Chr14:58965542 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic
NM_001329943.3(KIAA0586):c.411-1360G>A single nucleotide variant KIAA0586-related condition [RCV003944346] Chr14:58441346 [GRCh38]
Chr14:58908064 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4080_4081del (p.Met1362fs) microsatellite Joubert syndrome 23 [RCV000499394]|Joubert syndrome 23 [RCV003766824] Chr14:58498867..58498868 [GRCh38]
Chr14:58965585..58965586 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic
NM_001329943.3(KIAA0586):c.3144+265G>A single nucleotide variant not provided [RCV001724520] Chr14:58482977 [GRCh38]
Chr14:58949695 [GRCh37]
Chr14:14q23.1		 benign
NM_001244189.1(KIAA0586):c.2730G>A (p.Lys910=) single nucleotide variant Malignant melanoma [RCV000070561] Chr14:58472216 [GRCh38]
Chr14:58938934 [GRCh37]
Chr14:58008687 [NCBI36]
Chr14:14q23.1		 not provided
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) duplication Joubert syndrome 23 [RCV000705869]|Joubert syndrome 23 [RCV001291733]|Joubert syndrome and related disorders [RCV003403202]|KIAA0586-related condition [RCV003403203]|Neurodevelopmental disorder [RCV001778987]|Retinal dystrophy [RCV001074911]|not provided [RCV000513804] Chr14:58428357..58428358 [GRCh38]
Chr14:58895075..58895076 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic|uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
NM_001329943.3(KIAA0586):c.2945-9dup duplication not provided [RCV000514850] Chr14:58482492..58482493 [GRCh38]
Chr14:58949210..58949211 [GRCh37]
Chr14:14q23.1		 benign
GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1 copy number loss See cases [RCV000138348] Chr14:57653413..64093528 [GRCh38]
Chr14:58120131..64560246 [GRCh37]
Chr14:57189884..63629999 [NCBI36]
Chr14:14q23.1-23.2		 pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33		 pathogenic
GRCh38/hg38 14q23.1(chr14:58288658-58509423)x1 copy number loss See cases [RCV000143427] Chr14:58288658..58509423 [GRCh38]
Chr14:58755376..58976141 [GRCh37]
Chr14:57825129..58045894 [NCBI36]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3114G>C (p.Gly1038=) single nucleotide variant KIAA0586-related condition [RCV003911614] Chr14:58482682 [GRCh38]
Chr14:58949400 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) deletion Congenital cerebellar hypoplasia [RCV001003979]|Familial aplasia of the vermis [RCV000612898]|Joubert syndrome 23 [RCV000186590]|Joubert syndrome 23 [RCV000652578]|Joubert syndrome and related disorders [RCV001193558]|KIAA0586-related condition [RCV003401022]|Retinal dystrophy [RCV001073225]|Short-rib thoracic dysplasia 14 with polydactyly [RCV001283811]|not provided [RCV000255927] Chr14:58432439 [GRCh38]
Chr14:58899157 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic
NM_001329943.3(KIAA0586):c.1254-1G>C single nucleotide variant Joubert syndrome 23 [RCV000186591]|Joubert syndrome 23 [RCV000652577]|not provided [RCV000479178] Chr14:58456701 [GRCh38]
Chr14:58923419 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter) single nucleotide variant Joubert syndrome 23 [RCV000186592]|KIAA0586-related condition [RCV003401023]|not provided [RCV002272164] Chr14:58450617 [GRCh38]
Chr14:58917335 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) deletion Congenital cerebellar hypoplasia [RCV001003980]|Joubert syndrome 23 [RCV000186593]|Joubert syndrome 23 [RCV001852435]|Neurodevelopmental disorder [RCV001778778]|not provided [RCV001091046] Chr14:58444072..58444073 [GRCh38]
Chr14:58910790..58910791 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic
NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val) single nucleotide variant Joubert syndrome 23 [RCV000186594] Chr14:58457934 [GRCh38]
Chr14:58924652 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter) single nucleotide variant Short-rib thoracic dysplasia 14 with polydactyly [RCV000190840] Chr14:58428458 [GRCh38]
Chr14:58895176 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) single nucleotide variant Joubert syndrome 23 [RCV001389448]|Short-rib thoracic dysplasia 14 with polydactyly [RCV000190841]|not provided [RCV001268478] Chr14:58458545 [GRCh38]
Chr14:58925263 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.411-1357T>C single nucleotide variant KIAA0586-related condition [RCV003899411] Chr14:58441349 [GRCh38]
Chr14:58908067 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1271_1274delinsGA (p.Glu424fs) indel Joubert syndrome 23 [RCV000201567] Chr14:58456719..58456722 [GRCh38]
Chr14:58923437..58923440 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) single nucleotide variant Joubert syndrome 23 [RCV000201686]|Joubert syndrome 23 [RCV001060061] Chr14:58482712 [GRCh38]
Chr14:58949430 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter) single nucleotide variant Joubert syndrome 23 [RCV000201703]|not provided [RCV001781606] Chr14:58444011 [GRCh38]
Chr14:58910729 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1571_1575del (p.Leu524fs) deletion Joubert syndrome 23 [RCV000201780] Chr14:58457966..58457970 [GRCh38]
Chr14:58924684..58924688 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.790C>T (p.Gln264Ter) single nucleotide variant Joubert syndrome 23 [RCV000408631] Chr14:58444158 [GRCh38]
Chr14:58910876 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1253G>A (p.Arg418Lys) single nucleotide variant Joubert syndrome 23 [RCV002521677]|not provided [RCV000418597] Chr14:58453473 [GRCh38]
Chr14:58920191 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) single nucleotide variant Joubert syndrome 23 [RCV001085731]|not provided [RCV000434353] Chr14:58442717 [GRCh38]
Chr14:58909435 [GRCh37]
Chr14:14q23.1		 benign|likely benign
GRCh37/hg19 14q23.1(chr14:58666970-59006831)x3 copy number gain not provided [RCV000738498] Chr14:58666970..59006831 [GRCh37]
Chr14:14q23.1		 benign
GRCh37/hg19 14q23.1(chr14:58668869-58927173)x3 copy number gain not provided [RCV000738500] Chr14:58668869..58927173 [GRCh37]
Chr14:14q23.1		 benign
GRCh37/hg19 14q23.1(chr14:58669403-59014522)x3 copy number gain not provided [RCV000738501] Chr14:58669403..59014522 [GRCh37]
Chr14:14q23.1		 benign
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33		 pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_001329943.3(KIAA0586):c.787C>T (p.Gln263Ter) single nucleotide variant Joubert syndrome 23 [RCV003983092]|not provided [RCV000479792] Chr14:58444155 [GRCh38]
Chr14:58910873 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic
NM_001329943.3(KIAA0586):c.2353C>T (p.Arg785Ter) single nucleotide variant Joubert syndrome 23 [RCV001215185]|not provided [RCV000484352] Chr14:58467833 [GRCh38]
Chr14:58934551 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.-29A>C single nucleotide variant Joubert syndrome 23 [RCV001851264]|not provided [RCV000481842] Chr14:58428236 [GRCh38]
Chr14:58894954 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.411-1469A>G single nucleotide variant not provided [RCV000479082] Chr14:58441237 [GRCh38]
Chr14:58907955 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.171G>A (p.Thr57=) single nucleotide variant not provided [RCV003887707] Chr14:58428435 [GRCh38]
Chr14:58895153 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) single nucleotide variant Joubert syndrome 23 [RCV000878104]|Joubert syndrome 23 [RCV001731726]|KIAA0586-related condition [RCV003925468]|not provided [RCV001311013]|not specified [RCV000503789] Chr14:58487145 [GRCh38]
Chr14:58953863 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.3715A>G (p.Thr1239Ala) single nucleotide variant Joubert syndrome 23 [RCV001857009]|not provided [RCV000497699] Chr14:58488808 [GRCh38]
Chr14:58955526 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1080G>C (p.Arg360Ser) single nucleotide variant Inborn genetic diseases [RCV003243154]|Joubert syndrome 23 [RCV000660634]|Joubert syndrome 23 [RCV001857030]|not provided [RCV000497904] Chr14:58450697 [GRCh38]
Chr14:58917415 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.998A>G (p.Lys333Arg) single nucleotide variant KIAA0586-related condition [RCV003899772] Chr14:58450615 [GRCh38]
Chr14:58917333 [GRCh37]
Chr14:14q23.1		 uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33		 pathogenic
NM_001329943.3(KIAA0586):c.4305C>G (p.Ala1435=) single nucleotide variant Joubert syndrome 23 [RCV002060361]|not provided [RCV000543091] Chr14:58508691 [GRCh38]
Chr14:58975409 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) indel Joubert syndrome 23 [RCV000544452] Chr14:58487027..58487028 [GRCh38]
Chr14:58953745..58953746 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) single nucleotide variant Joubert syndrome 23 [RCV000548643]|not provided [RCV001540476] Chr14:58450673 [GRCh38]
Chr14:58917391 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile) single nucleotide variant Joubert syndrome 23 [RCV000526654]|not provided [RCV001548520] Chr14:58457966 [GRCh38]
Chr14:58924684 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) single nucleotide variant Joubert syndrome 23 [RCV000526890]|not provided [RCV001561049] Chr14:58428364 [GRCh38]
Chr14:58895082 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) single nucleotide variant Joubert syndrome 23 [RCV000548386]|not provided [RCV001564458] Chr14:58457835 [GRCh38]
Chr14:58924553 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) single nucleotide variant Joubert syndrome 23 [RCV000550820]|not provided [RCV001672866] Chr14:58547845 [GRCh38]
Chr14:59014563 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.199+6T>A single nucleotide variant Joubert syndrome 23 [RCV001857984]|not provided [RCV000521793] Chr14:58428469 [GRCh38]
Chr14:58895187 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) single nucleotide variant Joubert syndrome 23 [RCV000529896]|KIAA0586-related condition [RCV003952869]|not provided [RCV001568687] Chr14:58474707 [GRCh38]
Chr14:58941425 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) single nucleotide variant Joubert syndrome 23 [RCV000536083]|not provided [RCV001613370] Chr14:58540102 [GRCh38]
Chr14:59006820 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly) single nucleotide variant Joubert syndrome 23 [RCV000532889]|not provided [RCV001724061] Chr14:58492205 [GRCh38]
Chr14:58958923 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) single nucleotide variant Joubert syndrome 23 [RCV000556102]|not provided [RCV001653922] Chr14:58429365 [GRCh38]
Chr14:58896083 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) single nucleotide variant Joubert syndrome 23 [RCV000559135]|not provided [RCV001536821] Chr14:58488812 [GRCh38]
Chr14:58955530 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.2944+4A>C single nucleotide variant Joubert syndrome 23 [RCV000554790]|not provided [RCV002266986] Chr14:58477245 [GRCh38]
Chr14:58943963 [GRCh37]
Chr14:14q23.1		 likely pathogenic|uncertain significance
NM_001329943.3(KIAA0586):c.4160C>T (p.Thr1387Ile) single nucleotide variant Joubert syndrome 23 [RCV000557773]|Joubert syndrome 23 [RCV003320361]|not provided [RCV001653923] Chr14:58498952 [GRCh38]
Chr14:58965670 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1045G>A (p.Val349Ile) single nucleotide variant Inborn genetic diseases [RCV004024331]|Joubert syndrome 23 [RCV000533867] Chr14:58450662 [GRCh38]
Chr14:58917380 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) single nucleotide variant Joubert syndrome 23 [RCV000533091]|KIAA0586-related condition [RCV003962600]|not provided [RCV003326464] Chr14:58482672 [GRCh38]
Chr14:58949390 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.831C>T (p.Leu277=) single nucleotide variant Joubert syndrome 23 [RCV000535889] Chr14:58448363 [GRCh38]
Chr14:58915081 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic|uncertain significance
NM_001329943.3(KIAA0586):c.4261A>G (p.Thr1421Ala) single nucleotide variant Joubert syndrome 23 [RCV002532573]|not provided [RCV000591933] Chr14:58508647 [GRCh38]
Chr14:58975365 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2804T>A (p.Leu935Gln) single nucleotide variant Joubert syndrome 23 [RCV000540045]|not provided [RCV002282226] Chr14:58474776 [GRCh38]
Chr14:58941494 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2060-3T>C single nucleotide variant Joubert syndrome 23 [RCV000541397]|not provided [RCV001692193] Chr14:58465832 [GRCh38]
Chr14:58932550 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.908del (p.Pro303fs) deletion not provided [RCV000593587] Chr14:58448438 [GRCh38]
Chr14:58915156 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2553+3A>C single nucleotide variant not provided [RCV000599063] Chr14:58470726 [GRCh38]
Chr14:58937444 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) single nucleotide variant Joubert syndrome 23 [RCV000541630]|not provided [RCV001584342] Chr14:58453450 [GRCh38]
Chr14:58920168 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.789dup (p.Gln264fs) duplication Joubert syndrome 23 [RCV000697925]|not provided [RCV000627560] Chr14:58444155..58444156 [GRCh38]
Chr14:58910873..58910874 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs) deletion Inborn genetic diseases [RCV003163003]|Joubert syndrome 23 [RCV000652573] Chr14:58470674..58470678 [GRCh38]
Chr14:58937392..58937396 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4430-6A>C single nucleotide variant Joubert syndrome 23 [RCV000652574] Chr14:58540065 [GRCh38]
Chr14:59006783 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3003C>A (p.Asn1001Lys) single nucleotide variant Joubert syndrome 23 [RCV000652575]|not provided [RCV001584506]|not specified [RCV001816637] Chr14:58482571 [GRCh38]
Chr14:58949289 [GRCh37]
Chr14:14q23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001329943.3(KIAA0586):c.4472C>T (p.Pro1491Leu) single nucleotide variant Joubert syndrome 23 [RCV000652576] Chr14:58540113 [GRCh38]
Chr14:59006831 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.365A>G (p.Tyr122Cys) single nucleotide variant Inborn genetic diseases [RCV002531997]|Joubert syndrome 23 [RCV000652579]|not provided [RCV002461989] Chr14:58432412 [GRCh38]
Chr14:58899130 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) single nucleotide variant Joubert syndrome 23 [RCV000652580] Chr14:58457939 [GRCh38]
Chr14:58924657 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.117G>A (p.Glu39=) single nucleotide variant Joubert syndrome 23 [RCV001855341] Chr14:58428381 [GRCh38]
Chr14:58895099 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=) single nucleotide variant Joubert syndrome 23 [RCV000652582]|KIAA0586-related condition [RCV003918073]|not provided [RCV001564178] Chr14:58488756 [GRCh38]
Chr14:58955474 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) single nucleotide variant Inborn genetic diseases [RCV002531998]|Joubert syndrome 23 [RCV000652583]|KIAA0586-related condition [RCV003937985]|not provided [RCV001565608] Chr14:58450591 [GRCh38]
Chr14:58917309 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.1804C>T (p.Gln602Ter) single nucleotide variant Joubert syndrome 23 [RCV000685038] Chr14:58459990 [GRCh38]
Chr14:58926708 [GRCh37]
Chr14:14q23.1		 pathogenic
NC_000014.9:g.(?_58443934)_(58450766_?)del deletion Joubert syndrome 23 [RCV000708099] Chr14:58443934..58450766 [GRCh38]
Chr14:58910652..58917484 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.3781+2T>C single nucleotide variant Joubert syndrome 23 [RCV000695366] Chr14:58488876 [GRCh38]
Chr14:58955594 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.38dup (p.Ile14fs) duplication Joubert syndrome 23 [RCV000697398]|Short-rib thoracic dysplasia 14 with polydactyly [RCV001029892] Chr14:58428294..58428295 [GRCh38]
Chr14:58895012..58895013 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys) single nucleotide variant Inborn genetic diseases [RCV002535271]|Joubert syndrome 23 [RCV001318623]|Joubert syndrome 23 [RCV001809790]|not provided [RCV000732393] Chr14:58428328 [GRCh38]
Chr14:58895046 [GRCh37]
Chr14:14q23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001329943.3(KIAA0586):c.4027C>T (p.Gln1343Ter) single nucleotide variant Joubert syndrome 23 [RCV001250539]|not provided [RCV000760761] Chr14:58498819 [GRCh38]
Chr14:58965537 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3515A>T (p.His1172Leu) single nucleotide variant Joubert syndrome 23 [RCV002535139]|not provided [RCV000730073] Chr14:58488097 [GRCh38]
Chr14:58954815 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1253+3A>G single nucleotide variant Joubert syndrome 23 [RCV000808293] Chr14:58453476 [GRCh38]
Chr14:58920194 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3739G>A (p.Gly1247Arg) single nucleotide variant Joubert syndrome 23 [RCV000795527] Chr14:58488832 [GRCh38]
Chr14:58955550 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3980A>G (p.Tyr1327Cys) single nucleotide variant Inborn genetic diseases [RCV004028239]|Joubert syndrome 23 [RCV000806165] Chr14:58492265 [GRCh38]
Chr14:58958983 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.3398del (p.Leu1133fs) deletion Jeune thoracic dystrophy [RCV000754956] Chr14:58487978 [GRCh38]
Chr14:58954696 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3799C>G (p.Leu1267Val) single nucleotide variant Joubert syndrome 23 [RCV000813446] Chr14:58490181 [GRCh38]
Chr14:58956899 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3351C>T (p.Thr1117=) single nucleotide variant not provided [RCV000976586] Chr14:58487933 [GRCh38]
Chr14:58954651 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2862G>A (p.Gly954=) single nucleotide variant Joubert syndrome 23 [RCV001413539] Chr14:58477159 [GRCh38]
Chr14:58943877 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4347T>C (p.Asp1449=) single nucleotide variant not provided [RCV000914329] Chr14:58512545 [GRCh38]
Chr14:58979263 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3966C>T (p.Ser1322=) single nucleotide variant Joubert syndrome 23 [RCV003768886]|KIAA0586-related condition [RCV003895711] Chr14:58492251 [GRCh38]
Chr14:58958969 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1494_411-1492del deletion not provided [RCV000960405] Chr14:58441212..58441214 [GRCh38]
Chr14:58907930..58907932 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4404T>C (p.Ser1468=) single nucleotide variant Joubert syndrome 23 [RCV000959506] Chr14:58512602 [GRCh38]
Chr14:58979320 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3816T>C (p.Leu1272=) single nucleotide variant Joubert syndrome 23 [RCV002540231] Chr14:58490198 [GRCh38]
Chr14:58956916 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp) single nucleotide variant Joubert syndrome 23 [RCV000951465]|KIAA0586-related condition [RCV003933316]|not provided [RCV003456462] Chr14:58428279 [GRCh38]
Chr14:58894997 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) single nucleotide variant Inborn genetic diseases [RCV002547231]|Joubert syndrome 23 [RCV000952078]|KIAA0586-related condition [RCV003925952]|not provided [RCV001585883]|not specified [RCV001818977] Chr14:58444066 [GRCh38]
Chr14:58910784 [GRCh37]
Chr14:14q23.1		 benign|likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=) single nucleotide variant Joubert syndrome 23 [RCV001510102]|not provided [RCV000907687] Chr14:58443968 [GRCh38]
Chr14:58910686 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.4646G>A (p.Ter1549=) single nucleotide variant Joubert syndrome 23 [RCV000883522]|not provided [RCV002264045] Chr14:58547931 [GRCh38]
Chr14:59014649 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3165G>A (p.Leu1055=) single nucleotide variant KIAA0586-related condition [RCV003940419]|not provided [RCV000880676] Chr14:58487027 [GRCh38]
Chr14:58953745 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys) single nucleotide variant Joubert syndrome 23 [RCV000945544]|KIAA0586-related condition [RCV003933232]|not provided [RCV001593136] Chr14:58488646 [GRCh38]
Chr14:58955364 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3688T>C (p.Leu1230=) single nucleotide variant Joubert syndrome 23 [RCV001084608]|not provided [RCV000952359] Chr14:58488781 [GRCh38]
Chr14:58955499 [GRCh37]
Chr14:14q23.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=) single nucleotide variant Joubert syndrome 23 [RCV000951582]|KIAA0586-related condition [RCV003925945]|not provided [RCV001557107] Chr14:58498917 [GRCh38]
Chr14:58965635 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.2010A>G (p.Pro670=) single nucleotide variant Joubert syndrome 23 [RCV001459616] Chr14:58461111 [GRCh38]
Chr14:58927829 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.789A>G (p.Gln263=) single nucleotide variant Joubert syndrome 23 [RCV001494311]|KIAA0586-related condition [RCV003940801] Chr14:58444157 [GRCh38]
Chr14:58910875 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys) single nucleotide variant Joubert syndrome 23 [RCV001519842] Chr14:58453460 [GRCh38]
Chr14:58920178 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val) single nucleotide variant Joubert syndrome 23 [RCV000878464]|not provided [RCV001585852] Chr14:58450714 [GRCh38]
Chr14:58917432 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=) single nucleotide variant Joubert syndrome 23 [RCV000877850]|not provided [RCV001576253] Chr14:58498839 [GRCh38]
Chr14:58965557 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr) single nucleotide variant Joubert syndrome 23 [RCV001087173]|KIAA0586-related condition [RCV003960568]|not provided [RCV000945424] Chr14:58547804 [GRCh38]
Chr14:59014522 [GRCh37]
Chr14:14q23.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001329943.3(KIAA0586):c.1656+7C>A single nucleotide variant Joubert syndrome 23 [RCV000946198] Chr14:58458552 [GRCh38]
Chr14:58925270 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1568C>T (p.Ala523Val) single nucleotide variant Joubert syndrome 23 [RCV000983918] Chr14:58457964 [GRCh38]
Chr14:58924682 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2343T>C (p.Pro781=) single nucleotide variant not provided [RCV000882954] Chr14:58467823 [GRCh38]
Chr14:58934541 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) single nucleotide variant Joubert syndrome 23 [RCV000878151]|KIAA0586-related condition [RCV003908358]|not provided [RCV001534101] Chr14:58547914 [GRCh38]
Chr14:59014632 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=) single nucleotide variant Joubert syndrome 23 [RCV000952573]|not provided [RCV001560141] Chr14:58428306 [GRCh38]
Chr14:58895024 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.3555A>G (p.Glu1185=) single nucleotide variant Joubert syndrome 23 [RCV001441249] Chr14:58488648 [GRCh38]
Chr14:58955366 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.534C>T (p.Thr178=) single nucleotide variant Joubert syndrome 23 [RCV002065528] Chr14:58442829 [GRCh38]
Chr14:58909547 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2832G>A (p.Glu944=) single nucleotide variant Joubert syndrome 23 [RCV002065736]|not provided [RCV000905926] Chr14:58477129 [GRCh38]
Chr14:58943847 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3781+8A>G single nucleotide variant Joubert syndrome 23 [RCV000951619] Chr14:58488882 [GRCh38]
Chr14:58955600 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.807+10A>C single nucleotide variant Joubert syndrome 23 [RCV002064891] Chr14:58444185 [GRCh38]
Chr14:58910903 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=) single nucleotide variant Joubert syndrome 23 [RCV000945758]|KIAA0586-related condition [RCV003913202] Chr14:58492146 [GRCh38]
Chr14:58958864 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4559C>T (p.Pro1520Leu) single nucleotide variant Inborn genetic diseases [RCV002548388]|Joubert syndrome 23 [RCV002066446] Chr14:58547844 [GRCh38]
Chr14:59014562 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=) single nucleotide variant Joubert syndrome 23 [RCV000949218]|KIAA0586-related condition [RCV003913272] Chr14:58444025 [GRCh38]
Chr14:58910743 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3858+8A>G single nucleotide variant Joubert syndrome 23 [RCV002542285] Chr14:58490248 [GRCh38]
Chr14:58956966 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1557G>A (p.Ser519=) single nucleotide variant Joubert syndrome 23 [RCV002065557] Chr14:58457953 [GRCh38]
Chr14:58924671 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1653T>C (p.Ile551=) single nucleotide variant Joubert syndrome 23 [RCV001503693] Chr14:58458542 [GRCh38]
Chr14:58925260 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr) single nucleotide variant Joubert syndrome 23 [RCV000878463]|Joubert syndrome 23 [RCV000989233]|not provided [RCV001638015] Chr14:58429420 [GRCh38]
Chr14:58896138 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2912G>A (p.Ser971Asn) single nucleotide variant Joubert syndrome 23 [RCV001411312] Chr14:58477209 [GRCh38]
Chr14:58943927 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+3778T>C single nucleotide variant Joubert syndrome 23 [RCV003768805] Chr14:58543914 [GRCh38]
Chr14:59010632 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn) single nucleotide variant Joubert syndrome 23 [RCV001473687]|KIAA0586-related condition [RCV003943031]|not provided [RCV000951210] Chr14:58492147 [GRCh38]
Chr14:58958865 [GRCh37]
Chr14:14q23.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser) single nucleotide variant Joubert syndrome 23 [RCV000954008]|KIAA0586-related condition [RCV003925991]|not provided [RCV001559430] Chr14:58428446 [GRCh38]
Chr14:58895164 [GRCh37]
Chr14:14q23.1		 likely benign|conflicting interpretations of pathogenicity
NM_001329943.3(KIAA0586):c.2424T>A (p.Pro808=) single nucleotide variant not provided [RCV000901281] Chr14:58467904 [GRCh38]
Chr14:58934622 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.750T>A (p.Phe250Leu) single nucleotide variant Joubert syndrome 23 [RCV001473266]|KIAA0586-related condition [RCV003953379] Chr14:58444118 [GRCh38]
Chr14:58910836 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1077G>A (p.Lys359=) single nucleotide variant Joubert syndrome 23 [RCV001486654] Chr14:58450694 [GRCh38]
Chr14:58917412 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3549T>C (p.Asp1183=) single nucleotide variant not provided [RCV000913092] Chr14:58488642 [GRCh38]
Chr14:58955360 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+3779A>T single nucleotide variant Joubert syndrome 23 [RCV002549898]|not provided [RCV000995181] Chr14:58543915 [GRCh38]
Chr14:59010633 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) single nucleotide variant Joubert syndrome 23 [RCV000989234]|Joubert syndrome 23 [RCV001517846]|Short-rib thoracic dysplasia 14 with polydactyly [RCV001730744]|not provided [RCV001725206] Chr14:58470698 [GRCh38]
Chr14:58937416 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4495+3796G>A single nucleotide variant not provided [RCV000913772] Chr14:58543932 [GRCh38]
Chr14:59010650 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1362G>C (p.Gln454His) single nucleotide variant not provided [RCV000995180] Chr14:58456810 [GRCh38]
Chr14:58923528 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.153dup (p.Arg52fs) duplication not provided [RCV001008945] Chr14:58428414..58428415 [GRCh38]
Chr14:58895132..58895133 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001244189.2(KIAA0586):c.5T>G (p.Phe2Cys) single nucleotide variant Joubert syndrome 23 [RCV001043122]|not provided [RCV001585941] Chr14:58427633 [GRCh38]
Chr14:58894351 [GRCh37]
Chr14:14q23.1		 uncertain significance
GRCh37/hg19 14q22.3-23.1(chr14:56605398-59404256)x1 copy number loss not provided [RCV001006637] Chr14:56605398..59404256 [GRCh37]
Chr14:14q22.3-23.1		 pathogenic
NM_001329943.3(KIAA0586):c.3668C>G (p.Ser1223Ter) single nucleotide variant Joubert syndrome 23 [RCV001060062] Chr14:58488761 [GRCh38]
Chr14:58955479 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2553G>A (p.Lys851=) single nucleotide variant Joubert syndrome 23 [RCV001049706] Chr14:58470723 [GRCh38]
Chr14:58937441 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4295T>G (p.Leu1432Ter) single nucleotide variant not provided [RCV001007995] Chr14:58508681 [GRCh38]
Chr14:58975399 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.1362+2T>C single nucleotide variant Joubert syndrome and related disorders [RCV003479279]|not provided [RCV001091047] Chr14:58456812 [GRCh38]
Chr14:58923530 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic
NC_000014.9:g.(?_58448320)_(58450766_?)dup duplication Joubert syndrome 23 [RCV001033237] Chr14:58915038..58917484 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3422T>C (p.Leu1141Ser) single nucleotide variant Joubert syndrome 23 [RCV001202670] Chr14:58488004 [GRCh38]
Chr14:58954722 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1584A>G (p.Arg528=) single nucleotide variant Joubert syndrome 23 [RCV001235464] Chr14:58458473 [GRCh38]
Chr14:58925191 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.1886G>A (p.Gly629Glu) single nucleotide variant Joubert syndrome 23 [RCV001216443] Chr14:58460987 [GRCh38]
Chr14:58927705 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.961+6_961+7del deletion Joubert syndrome 23 [RCV001209114] Chr14:58448496..58448497 [GRCh38]
Chr14:58915214..58915215 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.730G>T (p.Glu244Ter) single nucleotide variant Joubert syndrome 23 [RCV001210014] Chr14:58444098 [GRCh38]
Chr14:58910816 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1629G>A (p.Trp543Ter) single nucleotide variant Joubert syndrome 23 [RCV001196759] Chr14:58458518 [GRCh38]
Chr14:58925236 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1708C>T (p.Gln570Ter) single nucleotide variant Joubert syndrome 23 [RCV001201794] Chr14:58459894 [GRCh38]
Chr14:58926612 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.768G>C (p.Arg256Ser) single nucleotide variant Joubert syndrome 23 [RCV001223830]|Joubert syndrome 23 [RCV002471050]|not provided [RCV001567699] Chr14:58444136 [GRCh38]
Chr14:58910854 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1484A>G (p.Gln495Arg) single nucleotide variant Joubert syndrome 23 [RCV001223438] Chr14:58457880 [GRCh38]
Chr14:58924598 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3858+4A>G single nucleotide variant Joubert syndrome 23 [RCV001212428] Chr14:58490244 [GRCh38]
Chr14:58956962 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.914T>C (p.Leu305Pro) single nucleotide variant Joubert syndrome 23 [RCV001231503]|not provided [RCV003442791] Chr14:58448446 [GRCh38]
Chr14:58915164 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2255-1G>C single nucleotide variant Joubert syndrome 23 [RCV001264820]|not provided [RCV002508302] Chr14:58467734 [GRCh38]
Chr14:58934452 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4315T>G (p.Phe1439Val) single nucleotide variant Joubert syndrome 23 [RCV001350383]|KIAA0586-related condition [RCV003399140]|not provided [RCV003235557] Chr14:58508701 [GRCh38]
Chr14:58975419 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2336C>A (p.Ser779Tyr) single nucleotide variant Joubert syndrome 23 [RCV001333028] Chr14:58467816 [GRCh38]
Chr14:58934534 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.484G>A (p.Val162Ile) single nucleotide variant Joubert syndrome 23 [RCV001294534] Chr14:58442779 [GRCh38]
Chr14:58909497 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3824G>C (p.Ser1275Thr) single nucleotide variant Joubert syndrome 23 [RCV001309854] Chr14:58490206 [GRCh38]
Chr14:58956924 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4283A>G (p.Asn1428Ser) single nucleotide variant Joubert syndrome 23 [RCV001333029] Chr14:58508669 [GRCh38]
Chr14:58975387 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1522A>G (p.Ile508Val) single nucleotide variant Inborn genetic diseases [RCV002545002]|Joubert syndrome 23 [RCV001306975] Chr14:58457918 [GRCh38]
Chr14:58924636 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.1917T>G (p.Asp639Glu) single nucleotide variant Joubert syndrome 23 [RCV001315415] Chr14:58461018 [GRCh38]
Chr14:58927736 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4067T>C (p.Met1356Thr) single nucleotide variant Joubert syndrome 23 [RCV001309503] Chr14:58498859 [GRCh38]
Chr14:58965577 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1490A>G (p.Asn497Ser) single nucleotide variant Joubert syndrome 23 [RCV001317079] Chr14:58457886 [GRCh38]
Chr14:58924604 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.*24del deletion Joubert syndrome 23 [RCV001957987]|not provided [RCV002300629] Chr14:58547956 [GRCh38]
Chr14:59014674 [GRCh37]
Chr14:14q23.1		 pathogenic|uncertain significance
NM_001329943.3(KIAA0586):c.4482_4483del (p.Val1496fs) deletion Joubert syndrome 23 [RCV001339239] Chr14:58540123..58540124 [GRCh38]
Chr14:59006841..59006842 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1277A>G (p.Glu426Gly) single nucleotide variant Joubert syndrome 23 [RCV001333027] Chr14:58456725 [GRCh38]
Chr14:58923443 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4324-1G>A single nucleotide variant Short-rib thoracic dysplasia 14 with polydactyly [RCV001333030]|not provided [RCV002462940] Chr14:58512521 [GRCh38]
Chr14:58979239 [GRCh37]
Chr14:14q23.1		 likely pathogenic|uncertain significance
NM_001329943.3(KIAA0586):c.4323+4C>T single nucleotide variant Joubert syndrome 23 [RCV001303257] Chr14:58508713 [GRCh38]
Chr14:58975431 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1393C>T (p.Pro465Ser) single nucleotide variant Joubert syndrome 23 [RCV001338424]|not provided [RCV002462943] Chr14:58457789 [GRCh38]
Chr14:58924507 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3238G>A (p.Asp1080Asn) single nucleotide variant Joubert syndrome 23 [RCV001349103] Chr14:58487100 [GRCh38]
Chr14:58953818 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2077A>G (p.Ile693Val) single nucleotide variant Joubert syndrome 23 [RCV001297955] Chr14:58465852 [GRCh38]
Chr14:58932570 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.575C>T (p.Pro192Leu) single nucleotide variant Joubert syndrome 23 [RCV001352176] Chr14:58442870 [GRCh38]
Chr14:58909588 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001244189.2(KIAA0586):c.9+1G>A single nucleotide variant Joubert syndrome 23 [RCV001871620]|not provided [RCV001280787] Chr14:58427638 [GRCh38]
Chr14:58894356 [GRCh37]
Chr14:14q23.1		 likely pathogenic|uncertain significance
NM_001329943.3(KIAA0586):c.1445C>T (p.Ser482Phe) single nucleotide variant Joubert syndrome 23 [RCV001341358] Chr14:58457841 [GRCh38]
Chr14:58924559 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2903T>C (p.Val968Ala) single nucleotide variant Joubert syndrome 23 [RCV001296480] Chr14:58477200 [GRCh38]
Chr14:58943918 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1529G>A (p.Arg510His) single nucleotide variant Joubert syndrome 23 [RCV001372700] Chr14:58457925 [GRCh38]
Chr14:58924643 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3164T>C (p.Leu1055Pro) single nucleotide variant Joubert syndrome 23 [RCV001363234] Chr14:58487026 [GRCh38]
Chr14:58953744 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3917C>T (p.Ala1306Val) single nucleotide variant Joubert syndrome 23 [RCV001359229] Chr14:58492202 [GRCh38]
Chr14:58958920 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2908G>A (p.Val970Ile) single nucleotide variant Inborn genetic diseases [RCV003284261]|Joubert syndrome 23 [RCV001361567] Chr14:58477205 [GRCh38]
Chr14:58943923 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2503C>G (p.Leu835Val) single nucleotide variant Joubert syndrome 23 [RCV001361409] Chr14:58470673 [GRCh38]
Chr14:58937391 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.215C>T (p.Thr72Ile) single nucleotide variant Inborn genetic diseases [RCV002543090]|Joubert syndrome 23 [RCV001301730]|not provided [RCV001773609] Chr14:58429378 [GRCh38]
Chr14:58896096 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2624A>T (p.Asp875Val) single nucleotide variant Inborn genetic diseases [RCV002550181]|Joubert syndrome 23 [RCV001373873] Chr14:58472269 [GRCh38]
Chr14:58938987 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.100G>A (p.Val34Ile) single nucleotide variant Joubert syndrome 23 [RCV001369362] Chr14:58428364 [GRCh38]
Chr14:58895082 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3053C>A (p.Ala1018Asp) single nucleotide variant Joubert syndrome 23 [RCV001320940]|not provided [RCV001664824] Chr14:58482621 [GRCh38]
Chr14:58949339 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4458A>T (p.Gln1486His) single nucleotide variant Joubert syndrome 23 [RCV001369612] Chr14:58540099 [GRCh38]
Chr14:59006817 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.-36G>A single nucleotide variant Joubert syndrome 23 [RCV001343704] Chr14:58428229 [GRCh38]
Chr14:58894947 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.3343A>G (p.Thr1115Ala) single nucleotide variant Joubert syndrome 23 [RCV001323220] Chr14:58487925 [GRCh38]
Chr14:58954643 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+3755del deletion Joubert syndrome 23 [RCV001383129] Chr14:58543887 [GRCh38]
Chr14:59010605 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1667dup (p.Arg557fs) duplication Joubert syndrome 23 [RCV001384838] Chr14:58459852..58459853 [GRCh38]
Chr14:58926570..58926571 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2554-9C>T single nucleotide variant Joubert syndrome 23 [RCV001398415]|KIAA0586-related condition [RCV003938671] Chr14:58472190 [GRCh38]
Chr14:58938908 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.723T>C (p.His241=) single nucleotide variant Joubert syndrome 23 [RCV001394912]|not provided [RCV003394030]|not specified [RCV001820092] Chr14:58444091 [GRCh38]
Chr14:58910809 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3750A>G (p.Leu1250=) single nucleotide variant Joubert syndrome 23 [RCV001421152] Chr14:58488843 [GRCh38]
Chr14:58955561 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=) single nucleotide variant Joubert syndrome 23 [RCV001517845]|Joubert syndrome 23 [RCV001730782]|Short-rib thoracic dysplasia 14 with polydactyly [RCV001730783]|not provided [RCV001541146] Chr14:58450736 [GRCh38]
Chr14:58917454 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala) single nucleotide variant Joubert syndrome 23 [RCV001517847]|Joubert syndrome 23 [RCV001730784]|Short-rib thoracic dysplasia 14 with polydactyly [RCV001730785]|not provided [RCV001619921] Chr14:58487028 [GRCh38]
Chr14:58953746 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3305-8dup duplication Joubert syndrome 23 [RCV001517848]|Joubert syndrome 23 [RCV001730786]|Short-rib thoracic dysplasia 14 with polydactyly [RCV001730787]|not provided [RCV001655766] Chr14:58487870..58487871 [GRCh38]
Chr14:58954588..58954589 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4305C>T (p.Ala1435=) single nucleotide variant Joubert syndrome 23 [RCV001463988] Chr14:58508691 [GRCh38]
Chr14:58975409 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.200-14C>A single nucleotide variant Joubert syndrome 23 [RCV001517477] Chr14:58429349 [GRCh38]
Chr14:58896067 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1129+11del deletion Joubert syndrome 23 [RCV001514303]|not provided [RCV002246394] Chr14:58450757 [GRCh38]
Chr14:58917475 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.1130-16A>C single nucleotide variant Joubert syndrome 23 [RCV001516423]|not provided [RCV001556393] Chr14:58453334 [GRCh38]
Chr14:58920052 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.1466_1476del (p.Lys489fs) deletion Joubert syndrome 23 [RCV001380198] Chr14:58457857..58457867 [GRCh38]
Chr14:58924575..58924585 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4495+3795T>C single nucleotide variant Joubert syndrome 23 [RCV001515454]|KIAA0586-related condition [RCV003980537]|not provided [RCV001673090] Chr14:58543931 [GRCh38]
Chr14:59010649 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3858+10G>A single nucleotide variant Joubert syndrome 23 [RCV001442629]|KIAA0586-related condition [RCV003908656] Chr14:58490250 [GRCh38]
Chr14:58956968 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3729C>T (p.Pro1243=) single nucleotide variant Joubert syndrome 23 [RCV001483405]|not provided [RCV003394077] Chr14:58488822 [GRCh38]
Chr14:58955540 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4496-16C>T single nucleotide variant Joubert syndrome 23 [RCV001520699] Chr14:58547765 [GRCh38]
Chr14:59014483 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3304+12A>G single nucleotide variant Joubert syndrome 23 [RCV001450673] Chr14:58487178 [GRCh38]
Chr14:58953896 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1323C>T (p.Asp441=) single nucleotide variant Joubert syndrome 23 [RCV001520625] Chr14:58456771 [GRCh38]
Chr14:58923489 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=) single nucleotide variant Joubert syndrome 23 [RCV001521880]|KIAA0586-related condition [RCV003966133] Chr14:58488867 [GRCh38]
Chr14:58955585 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.726T>C (p.Asp242=) single nucleotide variant Joubert syndrome 23 [RCV001483211] Chr14:58444094 [GRCh38]
Chr14:58910812 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1935del (p.Val646fs) deletion Joubert syndrome 23 [RCV001382168] Chr14:58461035 [GRCh38]
Chr14:58927753 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2163C>T (p.Gly721=) single nucleotide variant Joubert syndrome 23 [RCV001439477]|not provided [RCV001551521] Chr14:58465938 [GRCh38]
Chr14:58932656 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1075_1076del (p.Lys359fs) deletion Joubert syndrome 23 [RCV001386576] Chr14:58450691..58450692 [GRCh38]
Chr14:58917409..58917410 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.3246T>G (p.Ser1082=) single nucleotide variant Joubert syndrome 23 [RCV001425642] Chr14:58487108 [GRCh38]
Chr14:58953826 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1341A>G (p.Lys447=) single nucleotide variant Joubert syndrome 23 [RCV001493451] Chr14:58456789 [GRCh38]
Chr14:58923507 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.38del (p.Lys13fs) deletion Inborn genetic diseases [RCV002568189]|Joubert syndrome 23 [RCV002568892]|Joubert syndrome 23 [RCV003223345]|not provided [RCV001531193] Chr14:58428295 [GRCh38]
Chr14:58895013 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic
NM_001329943.3(KIAA0586):c.4449T>C (p.Asp1483=) single nucleotide variant Joubert syndrome 23 [RCV002072254]|not provided [RCV001574918] Chr14:58540090 [GRCh38]
Chr14:59006808 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3305-9_3305-8dup duplication Joubert syndrome 23 [RCV001523632] Chr14:58487870..58487871 [GRCh38]
Chr14:58954588..58954589 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.-69C>T single nucleotide variant not provided [RCV001548303] Chr14:58428196 [GRCh38]
Chr14:58894914 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2060-140A>G single nucleotide variant not provided [RCV001570466] Chr14:58465695 [GRCh38]
Chr14:58932413 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3859-175T>C single nucleotide variant not provided [RCV001556942] Chr14:58491969 [GRCh38]
Chr14:58958687 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.200-286C>T single nucleotide variant not provided [RCV001537601] Chr14:58429077 [GRCh38]
Chr14:58895795 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1130-127G>C single nucleotide variant not provided [RCV001538889] Chr14:58453223 [GRCh38]
Chr14:58919941 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2059+97G>A single nucleotide variant not provided [RCV001546247] Chr14:58461257 [GRCh38]
Chr14:58927975 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4430-239C>A single nucleotide variant not provided [RCV001666247] Chr14:58539832 [GRCh38]
Chr14:59006550 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4429+235T>C single nucleotide variant not provided [RCV001553367] Chr14:58512862 [GRCh38]
Chr14:58979580 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+173C>T single nucleotide variant not provided [RCV001562462] Chr14:58540309 [GRCh38]
Chr14:59007027 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3717T>G (p.Thr1239=) single nucleotide variant Joubert syndrome 23 [RCV002573177]|not provided [RCV001562578] Chr14:58488810 [GRCh38]
Chr14:58955528 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.807+308del deletion not provided [RCV001558654] Chr14:58444483 [GRCh38]
Chr14:58911201 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+60G>A single nucleotide variant not provided [RCV001552951] Chr14:58540196 [GRCh38]
Chr14:59006914 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2442+292T>C single nucleotide variant not provided [RCV001569633] Chr14:58468214 [GRCh38]
Chr14:58934932 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2060-52A>T single nucleotide variant not provided [RCV001551203] Chr14:58465783 [GRCh38]
Chr14:58932501 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1253+119G>T single nucleotide variant not provided [RCV001558935] Chr14:58453592 [GRCh38]
Chr14:58920310 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.410+231C>G single nucleotide variant not provided [RCV001555016] Chr14:58432688 [GRCh38]
Chr14:58899406 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1495del deletion not provided [RCV001566018] Chr14:58441191 [GRCh38]
Chr14:58907909 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4430-208A>G single nucleotide variant not provided [RCV001562525] Chr14:58539863 [GRCh38]
Chr14:59006581 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1253+49A>C single nucleotide variant not provided [RCV001678905] Chr14:58453522 [GRCh38]
Chr14:58920240 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3257C>T (p.Ser1086Leu) single nucleotide variant Joubert syndrome 23 [RCV002568996]|not provided [RCV001556893] Chr14:58487119 [GRCh38]
Chr14:58953837 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.807+321T>C single nucleotide variant not provided [RCV001564654] Chr14:58444496 [GRCh38]
Chr14:58911214 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.-5A>G single nucleotide variant not provided [RCV001555547] Chr14:58428260 [GRCh38]
Chr14:58894978 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1363-239G>A single nucleotide variant not provided [RCV001557364] Chr14:58457520 [GRCh38]
Chr14:58924238 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1498_411-1495del deletion not provided [RCV001551656] Chr14:58441191..58441194 [GRCh38]
Chr14:58907909..58907912 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.586-129C>A single nucleotide variant not provided [RCV001690825] Chr14:58443825 [GRCh38]
Chr14:58910543 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs) deletion Joubert syndrome 23 [RCV001882578]|not provided [RCV001529927] Chr14:58470706 [GRCh38]
Chr14:58937424 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4496-281_4496-278del deletion not provided [RCV001666474] Chr14:58547500..58547503 [GRCh38]
Chr14:59014218..59014221 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3781+123A>G single nucleotide variant not provided [RCV001645775] Chr14:58488997 [GRCh38]
Chr14:58955715 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.807+339C>T single nucleotide variant not provided [RCV001645785] Chr14:58444514 [GRCh38]
Chr14:58911232 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1656+156G>A single nucleotide variant not provided [RCV001666505] Chr14:58458701 [GRCh38]
Chr14:58925419 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.270+258del deletion not provided [RCV001534971] Chr14:58429691 [GRCh38]
Chr14:58896409 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4169-180C>T single nucleotide variant not provided [RCV001582209] Chr14:58508375 [GRCh38]
Chr14:58975093 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3145-108T>C single nucleotide variant not provided [RCV001691065] Chr14:58486899 [GRCh38]
Chr14:58953617 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.668G>A (p.Arg223His) single nucleotide variant Joubert syndrome 23 [RCV001866169]|not provided [RCV001580855] Chr14:58444036 [GRCh38]
Chr14:58910754 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.808-281C>T single nucleotide variant not provided [RCV001725504] Chr14:58448059 [GRCh38]
Chr14:58914777 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4430-3166A>C single nucleotide variant not provided [RCV001564206] Chr14:58536905 [GRCh38]
Chr14:59003623 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4206A>C (p.Pro1402=) single nucleotide variant Joubert syndrome 23 [RCV001485285] Chr14:58508592 [GRCh38]
Chr14:58975310 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3991-211A>C single nucleotide variant not provided [RCV001569448] Chr14:58498572 [GRCh38]
Chr14:58965290 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1254-167A>G single nucleotide variant not provided [RCV001565226] Chr14:58456535 [GRCh38]
Chr14:58923253 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.-406T>C single nucleotide variant not provided [RCV001528077] Chr14:58427859 [GRCh38]
Chr14:58894577 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2553+11G>A single nucleotide variant Joubert syndrome 23 [RCV001522634]|not provided [RCV001566490] Chr14:58470734 [GRCh38]
Chr14:58937452 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.938A>G (p.Tyr313Cys) single nucleotide variant Joubert syndrome 23 [RCV001882716]|not provided [RCV001581835] Chr14:58448470 [GRCh38]
Chr14:58915188 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+3672C>T single nucleotide variant not provided [RCV001708001] Chr14:58543808 [GRCh38]
Chr14:59010526 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1130-66G>A single nucleotide variant not provided [RCV001568604] Chr14:58453284 [GRCh38]
Chr14:58920002 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1266G>A single nucleotide variant not provided [RCV001667416] Chr14:58441440 [GRCh38]
Chr14:58908158 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1130-28A>C single nucleotide variant not provided [RCV001544821] Chr14:58453322 [GRCh38]
Chr14:58920040 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-113A>G single nucleotide variant not provided [RCV001550524] Chr14:58442593 [GRCh38]
Chr14:58909311 [GRCh37]
Chr14:14q23.1		 likely benign
GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3 copy number gain 14q22.2q24.3 duplication [RCV001506967] Chr14:54654001..75828024 [GRCh37]
Chr14:14q22.2-24.3		 likely pathogenic
NM_001329943.3(KIAA0586):c.1129+257_1129+258del deletion not provided [RCV001545197] Chr14:58450984..58450985 [GRCh38]
Chr14:58917702..58917703 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1254-144A>T single nucleotide variant not provided [RCV001545534] Chr14:58456558 [GRCh38]
Chr14:58923276 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1253+289G>T single nucleotide variant not provided [RCV001691436] Chr14:58453762 [GRCh38]
Chr14:58920480 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3528-77G>A single nucleotide variant not provided [RCV001569691] Chr14:58488544 [GRCh38]
Chr14:58955262 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4496-3706A>T single nucleotide variant not provided [RCV001691546] Chr14:58544075 [GRCh38]
Chr14:59010793 [GRCh37]
Chr14:14q23.1		 benign
NM_012460.4(TIMM9):c.-134A>C single nucleotide variant not provided [RCV001693036] Chr14:58427073 [GRCh38]
Chr14:58893791 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1657-34C>T single nucleotide variant not provided [RCV001616178] Chr14:58459809 [GRCh38]
Chr14:58926527 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1583+193G>A single nucleotide variant not provided [RCV001589817] Chr14:58458172 [GRCh38]
Chr14:58924890 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2945-223G>A single nucleotide variant not provided [RCV001716696] Chr14:58482290 [GRCh38]
Chr14:58949008 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2553+99T>C single nucleotide variant not provided [RCV001586546] Chr14:58470822 [GRCh38]
Chr14:58937540 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1363-346G>A single nucleotide variant not provided [RCV001649757] Chr14:58457413 [GRCh38]
Chr14:58924131 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.962-72C>G single nucleotide variant not provided [RCV001687190] Chr14:58450507 [GRCh38]
Chr14:58917225 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2553+233A>G single nucleotide variant not provided [RCV001669330] Chr14:58470956 [GRCh38]
Chr14:58937674 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2254+25A>G single nucleotide variant Joubert syndrome 23 [RCV001730988]|Short-rib thoracic dysplasia 14 with polydactyly [RCV001730989]|not provided [RCV001714973] Chr14:58466054 [GRCh38]
Chr14:58932772 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1129+258del deletion not provided [RCV001680830] Chr14:58450984 [GRCh38]
Chr14:58917702 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1254-13T>C single nucleotide variant Joubert syndrome 23 [RCV002070452]|not provided [RCV001592175] Chr14:58456689 [GRCh38]
Chr14:58923407 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_012460.4(TIMM9):c.-156C>G single nucleotide variant not provided [RCV001691871] Chr14:58427095 [GRCh38]
Chr14:58893813 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4168+150A>G single nucleotide variant not provided [RCV001586937] Chr14:58499110 [GRCh38]
Chr14:58965828 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1591del deletion not provided [RCV001709776] Chr14:58441108 [GRCh38]
Chr14:58907826 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4430-3255dup duplication not provided [RCV001612399] Chr14:58536814..58536815 [GRCh38]
Chr14:59003532..59003533 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2945-87G>A single nucleotide variant not provided [RCV001684197] Chr14:58482426 [GRCh38]
Chr14:58949144 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2443-157T>C single nucleotide variant not provided [RCV001641112] Chr14:58470456 [GRCh38]
Chr14:58937174 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2255-82G>A single nucleotide variant not provided [RCV001684350] Chr14:58467653 [GRCh38]
Chr14:58934371 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.411-1496_411-1495del deletion not provided [RCV001650279] Chr14:58441191..58441192 [GRCh38]
Chr14:58907909..58907910 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2634+172A>G single nucleotide variant not provided [RCV001616811] Chr14:58472451 [GRCh38]
Chr14:58939169 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4324-197del deletion not provided [RCV001621843] Chr14:58512317 [GRCh38]
Chr14:58979035 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4168+37T>C single nucleotide variant not provided [RCV001639101] Chr14:58498997 [GRCh38]
Chr14:58965715 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.961+141_961+142insG insertion not provided [RCV001710574] Chr14:58448634..58448635 [GRCh38]
Chr14:58915352..58915353 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3859-260T>G single nucleotide variant not provided [RCV001620604] Chr14:58491884 [GRCh38]
Chr14:58958602 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1363-331T>C single nucleotide variant not provided [RCV001713224] Chr14:58457428 [GRCh38]
Chr14:58924146 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4430-171T>C single nucleotide variant not provided [RCV001590634] Chr14:58539900 [GRCh38]
Chr14:59006618 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1497_411-1495del deletion not provided [RCV001684510] Chr14:58441191..58441193 [GRCh38]
Chr14:58907909..58907911 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2825+254A>G single nucleotide variant not provided [RCV001635980] Chr14:58475051 [GRCh38]
Chr14:58941769 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4496-39T>A single nucleotide variant not provided [RCV001620263] Chr14:58547742 [GRCh38]
Chr14:59014460 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.199+275G>A single nucleotide variant not provided [RCV001674037] Chr14:58428738 [GRCh38]
Chr14:58895456 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2059+106G>A single nucleotide variant not provided [RCV001654491] Chr14:58461266 [GRCh38]
Chr14:58927984 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4496-3702A>C single nucleotide variant not provided [RCV001674413] Chr14:58544079 [GRCh38]
Chr14:59010797 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2634+240_2634+243del deletion not provided [RCV001595248] Chr14:58472516..58472519 [GRCh38]
Chr14:58939234..58939237 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.961+143A>T single nucleotide variant not provided [RCV001611738] Chr14:58448636 [GRCh38]
Chr14:58915354 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4430-239del deletion not provided [RCV001657420] Chr14:58539824 [GRCh38]
Chr14:59006542 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4169-238C>T single nucleotide variant not provided [RCV001654300] Chr14:58508317 [GRCh38]
Chr14:58975035 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3527+202T>C single nucleotide variant not provided [RCV001708644] Chr14:58488311 [GRCh38]
Chr14:58955029 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.4495+3679C>T single nucleotide variant not provided [RCV001586372] Chr14:58543815 [GRCh38]
Chr14:59010533 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1253+292A>T single nucleotide variant not provided [RCV001674669] Chr14:58453765 [GRCh38]
Chr14:58920483 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.961+150dup duplication not provided [RCV001649049] Chr14:58448636..58448637 [GRCh38]
Chr14:58915354..58915355 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.961+142_961+143insG insertion not provided [RCV001693476] Chr14:58448635..58448636 [GRCh38]
Chr14:58915353..58915354 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1130-211G>A single nucleotide variant not provided [RCV001639053] Chr14:58453139 [GRCh38]
Chr14:58919857 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1657-297A>C single nucleotide variant not provided [RCV001586792] Chr14:58459546 [GRCh38]
Chr14:58926264 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3407T>C (p.Ile1136Thr) single nucleotide variant Joubert syndrome 23 [RCV001882755]|not provided [RCV001658810] Chr14:58487989 [GRCh38]
Chr14:58954707 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1254-25G>A single nucleotide variant Joubert syndrome 23 [RCV001730873]|Short-rib thoracic dysplasia 14 with polydactyly [RCV001730874]|not provided [RCV001614858] Chr14:58456677 [GRCh38]
Chr14:58923395 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3145-258C>T single nucleotide variant not provided [RCV001639823] Chr14:58486749 [GRCh38]
Chr14:58953467 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2531C>A (p.Pro844His) single nucleotide variant Joubert syndrome 23 [RCV002540438]|not provided [RCV001761105] Chr14:58470701 [GRCh38]
Chr14:58937419 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3505GAA[1] (p.Glu1170del) microsatellite Inborn genetic diseases [RCV002543904]|Joubert syndrome 23 [RCV002539817]|not provided [RCV001733002] Chr14:58488085..58488087 [GRCh38]
Chr14:58954803..58954805 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4077del (p.Leu1360fs) deletion Joubert syndrome 23 [RCV003787327] Chr14:58498869 [GRCh38]
Chr14:58965587 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic
NM_001329943.3(KIAA0586):c.506C>A (p.Ser169Ter) single nucleotide variant not provided [RCV001783503] Chr14:58442801 [GRCh38]
Chr14:58909519 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2875C>T (p.Gln959Ter) single nucleotide variant not provided [RCV001783504] Chr14:58477172 [GRCh38]
Chr14:58943890 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1759C>T (p.Gln587Ter) single nucleotide variant not provided [RCV001783505] Chr14:58459945 [GRCh38]
Chr14:58926663 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.3885A>C (p.Gln1295His) single nucleotide variant Joubert syndrome 23 [RCV002538846]|not provided [RCV001765363] Chr14:58492170 [GRCh38]
Chr14:58958888 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.395C>G (p.Thr132Arg) single nucleotide variant Inborn genetic diseases [RCV002539806]|Joubert syndrome 23 [RCV002032715]|not provided [RCV001732898] Chr14:58432442 [GRCh38]
Chr14:58899160 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4384C>G (p.Leu1462Val) single nucleotide variant not provided [RCV001774679] Chr14:58512582 [GRCh38]
Chr14:58979300 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3935T>C (p.Phe1312Ser) single nucleotide variant Inborn genetic diseases [RCV002540346]|Joubert syndrome 23 [RCV002540347]|not provided [RCV001763524] Chr14:58492220 [GRCh38]
Chr14:58958938 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4084A>T (p.Met1362Leu) single nucleotide variant Joubert syndrome 23 [RCV002077293]|not provided [RCV003394273]|not specified [RCV001819323] Chr14:58498876 [GRCh38]
Chr14:58965594 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.1142T>A (p.Leu381Gln) single nucleotide variant not provided [RCV001771593] Chr14:58453362 [GRCh38]
Chr14:58920080 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+25T>C single nucleotide variant not provided [RCV001797394] Chr14:58540161 [GRCh38]
Chr14:59006879 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3450G>C (p.Lys1150Asn) single nucleotide variant Joubert syndrome 23 [RCV002544151]|not provided [RCV001764095] Chr14:58488032 [GRCh38]
Chr14:58954750 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2737C>A (p.Pro913Thr) single nucleotide variant not specified [RCV001822354] Chr14:58474709 [GRCh38]
Chr14:58941427 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4323+1G>C single nucleotide variant not specified [RCV001817815] Chr14:58508710 [GRCh38]
Chr14:58975428 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3377C>T (p.Ala1126Val) single nucleotide variant Joubert syndrome 23 [RCV001868636]|not provided [RCV001773128] Chr14:58487959 [GRCh38]
Chr14:58954677 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1967G>A (p.Arg656Gln) single nucleotide variant Joubert syndrome 23 [RCV001868568]|not provided [RCV001774238] Chr14:58461068 [GRCh38]
Chr14:58927786 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2184C>A (p.Ser728Arg) single nucleotide variant not provided [RCV001763722] Chr14:58465959 [GRCh38]
Chr14:58932677 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys) single nucleotide variant Joubert syndrome 23 [RCV001868881]|KIAA0586-related condition [RCV003401716]|not provided [RCV001786702] Chr14:58512523 [GRCh38]
Chr14:58979241 [GRCh37]
Chr14:14q23.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001329943.3(KIAA0586):c.*2C>T single nucleotide variant Joubert syndrome 23 [RCV002077198]|KIAA0586-related condition [RCV003968538]|not provided [RCV001771454] Chr14:58547934 [GRCh38]
Chr14:59014652 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2849G>T (p.Arg950Ile) single nucleotide variant Joubert syndrome 23 [RCV001907968] Chr14:58477146 [GRCh38]
Chr14:58943864 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3698C>G (p.Thr1233Ser) single nucleotide variant Joubert syndrome 23 [RCV001868533]|not provided [RCV001761106] Chr14:58488791 [GRCh38]
Chr14:58955509 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2932_2944+4del deletion Joubert syndrome 23 [RCV001825325] Chr14:58477229..58477245 [GRCh38]
Chr14:58943947..58943963 [GRCh37]
Chr14:14q23.1		 not provided
NM_001329943.3(KIAA0586):c.1657-1G>A single nucleotide variant Joubert syndrome 23 [RCV001823451] Chr14:58459842 [GRCh38]
Chr14:58926560 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.2602A>G (p.Thr868Ala) single nucleotide variant not provided [RCV001763098] Chr14:58472247 [GRCh38]
Chr14:58938965 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4585C>A (p.Gln1529Lys) single nucleotide variant not provided [RCV001758397] Chr14:58547870 [GRCh38]
Chr14:59014588 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1957C>T (p.Gln653Ter) single nucleotide variant Joubert syndrome 23 [RCV001814723] Chr14:58461058 [GRCh38]
Chr14:58927776 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.2228A>G (p.His743Arg) single nucleotide variant not provided [RCV001800104] Chr14:58466003 [GRCh38]
Chr14:58932721 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.199G>A (p.Gly67Ser) single nucleotide variant Joubert syndrome 23 [RCV001926790] Chr14:58428463 [GRCh38]
Chr14:58895181 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.421A>G (p.Met141Val) single nucleotide variant Joubert syndrome 23 [RCV001912269] Chr14:58442716 [GRCh38]
Chr14:58909434 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2402T>A (p.Met801Lys) single nucleotide variant Joubert syndrome 23 [RCV002021039] Chr14:58467882 [GRCh38]
Chr14:58934600 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3325A>G (p.Met1109Val) single nucleotide variant Joubert syndrome 23 [RCV001911025] Chr14:58487907 [GRCh38]
Chr14:58954625 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys) single nucleotide variant Joubert syndrome 23 [RCV001947399]|Short-rib thoracic dysplasia 14 with polydactyly [RCV003339772] Chr14:58453453 [GRCh38]
Chr14:58920171 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3679G>C (p.Glu1227Gln) single nucleotide variant Joubert syndrome 23 [RCV002006408] Chr14:58488772 [GRCh38]
Chr14:58955490 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4515C>G (p.Leu1505=) single nucleotide variant Joubert syndrome 23 [RCV001985259] Chr14:58547800 [GRCh38]
Chr14:59014518 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.345T>A (p.Asn115Lys) single nucleotide variant Joubert syndrome 23 [RCV001928030] Chr14:58432392 [GRCh38]
Chr14:58899110 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1414G>A (p.Val472Ile) single nucleotide variant Joubert syndrome 23 [RCV001890794] Chr14:58457810 [GRCh38]
Chr14:58924528 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1259C>T (p.Pro420Leu) single nucleotide variant Joubert syndrome 23 [RCV001927931] Chr14:58456707 [GRCh38]
Chr14:58923425 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4324-2A>G single nucleotide variant Joubert syndrome 23 [RCV001983504] Chr14:58512520 [GRCh38]
Chr14:58979238 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.1846G>T (p.Gly616Cys) single nucleotide variant Joubert syndrome 23 [RCV001945954]|not provided [RCV002511115] Chr14:58460032 [GRCh38]
Chr14:58926750 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.52G>A (p.Val18Met) single nucleotide variant Joubert syndrome 23 [RCV002008004] Chr14:58428316 [GRCh38]
Chr14:58895034 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4162G>A (p.Val1388Ile) single nucleotide variant Inborn genetic diseases [RCV002543490]|Joubert syndrome 23 [RCV002041681] Chr14:58498954 [GRCh38]
Chr14:58965672 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3526A>G (p.Ile1176Val) single nucleotide variant Joubert syndrome 23 [RCV001910863] Chr14:58488108 [GRCh38]
Chr14:58954826 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.953C>T (p.Ser318Phe) single nucleotide variant Joubert syndrome 23 [RCV001894644] Chr14:58448485 [GRCh38]
Chr14:58915203 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4093C>T (p.Pro1365Ser) single nucleotide variant Joubert syndrome 23 [RCV002004374] Chr14:58498885 [GRCh38]
Chr14:58965603 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3110C>G (p.Ser1037Cys) single nucleotide variant Joubert syndrome 23 [RCV002005304] Chr14:58482678 [GRCh38]
Chr14:58949396 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4641C>T (p.Thr1547=) single nucleotide variant Joubert syndrome 23 [RCV001912090] Chr14:58547926 [GRCh38]
Chr14:59014644 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2756A>G (p.Gln919Arg) single nucleotide variant Joubert syndrome 23 [RCV001985413] Chr14:58474728 [GRCh38]
Chr14:58941446 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter) single nucleotide variant Joubert syndrome 23 [RCV001947018]|Joubert syndrome 23 [RCV003992592] Chr14:58488673 [GRCh38]
Chr14:58955391 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4564G>T (p.Val1522Leu) single nucleotide variant Joubert syndrome 23 [RCV002004432] Chr14:58547849 [GRCh38]
Chr14:59014567 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2062A>G (p.Thr688Ala) single nucleotide variant Joubert syndrome 23 [RCV002004449] Chr14:58465837 [GRCh38]
Chr14:58932555 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3791A>T (p.Asp1264Val) single nucleotide variant Inborn genetic diseases [RCV004041067]|Joubert syndrome 23 [RCV001871241] Chr14:58490173 [GRCh38]
Chr14:58956891 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1048_1049insACA (p.Pro350delinsHisThr) insertion Joubert syndrome 23 [RCV002002871] Chr14:58450665..58450666 [GRCh38]
Chr14:58917383..58917384 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3206C>T (p.Pro1069Leu) single nucleotide variant Joubert syndrome 23 [RCV001947377] Chr14:58487068 [GRCh38]
Chr14:58953786 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3353del (p.Pro1118fs) deletion Joubert syndrome 23 [RCV001894962] Chr14:58487932 [GRCh38]
Chr14:58954650 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1745T>C (p.Ile582Thr) single nucleotide variant Joubert syndrome 23 [RCV001908951] Chr14:58459931 [GRCh38]
Chr14:58926649 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1172C>G (p.Ser391Cys) single nucleotide variant Joubert syndrome 23 [RCV002006899] Chr14:58453392 [GRCh38]
Chr14:58920110 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4575_4576delinsAC (p.Asp1526His) indel Joubert syndrome 23 [RCV002043341] Chr14:58547860..58547861 [GRCh38]
Chr14:59014578..59014579 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2788_2802del (p.Glu930_Thr934del) deletion Joubert syndrome 23 [RCV001893415] Chr14:58474760..58474774 [GRCh38]
Chr14:58941478..58941492 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1078A>T (p.Arg360Trp) single nucleotide variant Inborn genetic diseases [RCV004046855]|Joubert syndrome 23 [RCV002023820]|not provided [RCV002276987] Chr14:58450695 [GRCh38]
Chr14:58917413 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2288C>T (p.Pro763Leu) single nucleotide variant Joubert syndrome 23 [RCV002042952] Chr14:58467768 [GRCh38]
Chr14:58934486 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3794T>C (p.Ile1265Thr) single nucleotide variant Joubert syndrome 23 [RCV002005200] Chr14:58490176 [GRCh38]
Chr14:58956894 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3058A>G (p.Met1020Val) single nucleotide variant Inborn genetic diseases [RCV003289382]|Joubert syndrome 23 [RCV002004340]|not provided [RCV003314718] Chr14:58482626 [GRCh38]
Chr14:58949344 [GRCh37]
Chr14:14q23.1		 uncertain significance
NC_000014.8:g.(?_58894347)_(58894375_?)del deletion Joubert syndrome 23 [RCV002006332] Chr14:58894347..58894375 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3266A>G (p.Asp1089Gly) single nucleotide variant Joubert syndrome 23 [RCV001987636] Chr14:58487128 [GRCh38]
Chr14:58953846 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.556G>C (p.Ala186Pro) single nucleotide variant Joubert syndrome 23 [RCV001871331] Chr14:58442851 [GRCh38]
Chr14:58909569 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.117G>C (p.Glu39Asp) single nucleotide variant Joubert syndrome 23 [RCV001983356] Chr14:58428381 [GRCh38]
Chr14:58895099 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.241C>G (p.Leu81Val) single nucleotide variant Joubert syndrome 23 [RCV002020983] Chr14:58429404 [GRCh38]
Chr14:58896122 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1187G>A (p.Ser396Asn) single nucleotide variant Joubert syndrome 23 [RCV002005464] Chr14:58453407 [GRCh38]
Chr14:58920125 [GRCh37]
Chr14:14q23.1		 uncertain significance
NC_000014.8:g.(?_58711639)_(59014694_?)del deletion Joubert syndrome 23 [RCV001949574] Chr14:58711639..59014694 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2894G>T (p.Ser965Ile) single nucleotide variant Joubert syndrome 23 [RCV001965787] Chr14:58477191 [GRCh38]
Chr14:58943909 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1775A>G (p.Asn592Ser) single nucleotide variant Joubert syndrome 23 [RCV001984003] Chr14:58459961 [GRCh38]
Chr14:58926679 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.667C>T (p.Arg223Cys) single nucleotide variant Joubert syndrome 23 [RCV001964982] Chr14:58444035 [GRCh38]
Chr14:58910753 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-1420A>G single nucleotide variant Joubert syndrome 23 [RCV002005613] Chr14:58441286 [GRCh38]
Chr14:58908004 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3170C>T (p.Thr1057Ile) single nucleotide variant Joubert syndrome 23 [RCV002004669] Chr14:58487032 [GRCh38]
Chr14:58953750 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3362C>T (p.Thr1121Ile) single nucleotide variant Joubert syndrome 23 [RCV001913217] Chr14:58487944 [GRCh38]
Chr14:58954662 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.370A>G (p.Met124Val) single nucleotide variant Joubert syndrome 23 [RCV002003778] Chr14:58432417 [GRCh38]
Chr14:58899135 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.368C>A (p.Thr123Lys) single nucleotide variant Joubert syndrome 23 [RCV001910824] Chr14:58432415 [GRCh38]
Chr14:58899133 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2831A>T (p.Glu944Val) single nucleotide variant Joubert syndrome 23 [RCV001946010] Chr14:58477128 [GRCh38]
Chr14:58943846 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2728C>T (p.Pro910Ser) single nucleotide variant Joubert syndrome 23 [RCV001873935] Chr14:58474700 [GRCh38]
Chr14:58941418 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3940A>C (p.Lys1314Gln) single nucleotide variant Joubert syndrome 23 [RCV002040412] Chr14:58492225 [GRCh38]
Chr14:58958943 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2693G>A (p.Ser898Asn) single nucleotide variant Joubert syndrome 23 [RCV001873970] Chr14:58474665 [GRCh38]
Chr14:58941383 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3633G>C (p.Lys1211Asn) single nucleotide variant Joubert syndrome 23 [RCV001891486] Chr14:58488726 [GRCh38]
Chr14:58955444 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2255-3T>C single nucleotide variant Joubert syndrome 23 [RCV001891510] Chr14:58467732 [GRCh38]
Chr14:58934450 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-1359T>G single nucleotide variant Joubert syndrome 23 [RCV001968175] Chr14:58441347 [GRCh38]
Chr14:58908065 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4573G>A (p.Glu1525Lys) single nucleotide variant Joubert syndrome 23 [RCV001928555] Chr14:58547858 [GRCh38]
Chr14:59014576 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2203A>G (p.Thr735Ala) single nucleotide variant Joubert syndrome 23 [RCV002009447] Chr14:58465978 [GRCh38]
Chr14:58932696 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2198T>C (p.Met733Thr) single nucleotide variant Joubert syndrome 23 [RCV001915586] Chr14:58465973 [GRCh38]
Chr14:58932691 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4363_4364delinsAT (p.His1455Ile) indel Joubert syndrome 23 [RCV001911950] Chr14:58512561..58512562 [GRCh38]
Chr14:58979279..58979280 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3908A>G (p.Lys1303Arg) single nucleotide variant Inborn genetic diseases [RCV002551064]|Joubert syndrome 23 [RCV001874679] Chr14:58492193 [GRCh38]
Chr14:58958911 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1007C>G (p.Ser336Cys) single nucleotide variant Joubert syndrome 23 [RCV001986543] Chr14:58450624 [GRCh38]
Chr14:58917342 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2164G>T (p.Asp722Tyr) single nucleotide variant Inborn genetic diseases [RCV002562012]|Joubert syndrome 23 [RCV001950196] Chr14:58465939 [GRCh38]
Chr14:58932657 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2051G>A (p.Arg684Gln) single nucleotide variant Joubert syndrome 23 [RCV001896963] Chr14:58461152 [GRCh38]
Chr14:58927870 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1932A>T (p.Leu644Phe) single nucleotide variant Joubert syndrome 23 [RCV001969569] Chr14:58461033 [GRCh38]
Chr14:58927751 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3556C>A (p.Pro1186Thr) single nucleotide variant Inborn genetic diseases [RCV003355626]|Joubert syndrome 23 [RCV001896886] Chr14:58488649 [GRCh38]
Chr14:58955367 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2533C>T (p.Pro845Ser) single nucleotide variant Inborn genetic diseases [RCV003250423]|Joubert syndrome 23 [RCV002009385] Chr14:58470703 [GRCh38]
Chr14:58937421 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3458G>T (p.Gly1153Val) single nucleotide variant Joubert syndrome 23 [RCV001967561] Chr14:58488040 [GRCh38]
Chr14:58954758 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.956A>G (p.Lys319Arg) single nucleotide variant Joubert syndrome 23 [RCV001986676] Chr14:58448488 [GRCh38]
Chr14:58915206 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3883C>G (p.Gln1295Glu) single nucleotide variant Joubert syndrome 23 [RCV002045598] Chr14:58492168 [GRCh38]
Chr14:58958886 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4227G>T (p.Glu1409Asp) single nucleotide variant Joubert syndrome 23 [RCV001926811] Chr14:58508613 [GRCh38]
Chr14:58975331 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1918G>A (p.Glu640Lys) single nucleotide variant Joubert syndrome 23 [RCV001970573] Chr14:58461019 [GRCh38]
Chr14:58927737 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4496-3814G>A single nucleotide variant Joubert syndrome 23 [RCV001949986] Chr14:58543967 [GRCh38]
Chr14:59010685 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4531C>A (p.Pro1511Thr) single nucleotide variant Joubert syndrome 23 [RCV001874281] Chr14:58547816 [GRCh38]
Chr14:59014534 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2462T>C (p.Ile821Thr) single nucleotide variant Joubert syndrome 23 [RCV001988504] Chr14:58470632 [GRCh38]
Chr14:58937350 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1160A>G (p.Asn387Ser) single nucleotide variant Joubert syndrome 23 [RCV001964500] Chr14:58453380 [GRCh38]
Chr14:58920098 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.269G>A (p.Ser90Asn) single nucleotide variant Joubert syndrome 23 [RCV001971560] Chr14:58429432 [GRCh38]
Chr14:58896150 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2525C>T (p.Ser842Phe) single nucleotide variant Joubert syndrome 23 [RCV002026019]|not provided [RCV002305642] Chr14:58470695 [GRCh38]
Chr14:58937413 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3031G>A (p.Glu1011Lys) single nucleotide variant Inborn genetic diseases [RCV002548692]|Joubert syndrome 23 [RCV001863975] Chr14:58482599 [GRCh38]
Chr14:58949317 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4073A>G (p.His1358Arg) single nucleotide variant Joubert syndrome 23 [RCV001948865] Chr14:58498865 [GRCh38]
Chr14:58965583 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.987G>A (p.Thr329=) single nucleotide variant Joubert syndrome 23 [RCV001949694] Chr14:58450604 [GRCh38]
Chr14:58917322 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2411A>T (p.Glu804Val) single nucleotide variant Joubert syndrome 23 [RCV001864740] Chr14:58467891 [GRCh38]
Chr14:58934609 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.25G>T (p.Glu9Ter) single nucleotide variant Joubert syndrome 23 [RCV002042120] Chr14:58428289 [GRCh38]
Chr14:58895007 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001244189.2(KIAA0586):c.3G>A (p.Met1Ile) single nucleotide variant Joubert syndrome 23 [RCV001871019] Chr14:58427631 [GRCh38]
Chr14:58894349 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2765C>T (p.Ala922Val) single nucleotide variant Joubert syndrome 23 [RCV002045833] Chr14:58474737 [GRCh38]
Chr14:58941455 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3451C>A (p.Pro1151Thr) single nucleotide variant Joubert syndrome 23 [RCV002045933] Chr14:58488033 [GRCh38]
Chr14:58954751 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-1409C>T single nucleotide variant Joubert syndrome 23 [RCV001874425]|not provided [RCV003132577] Chr14:58441297 [GRCh38]
Chr14:58908015 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-1381C>T single nucleotide variant Joubert syndrome 23 [RCV001864006] Chr14:58441325 [GRCh38]
Chr14:58908043 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.347A>G (p.Asp116Gly) single nucleotide variant Joubert syndrome 23 [RCV001950278] Chr14:58432394 [GRCh38]
Chr14:58899112 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.836C>T (p.Thr279Ile) single nucleotide variant Joubert syndrome 23 [RCV001894967] Chr14:58448368 [GRCh38]
Chr14:58915086 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2015C>G (p.Pro672Arg) single nucleotide variant Joubert syndrome 23 [RCV001950286] Chr14:58461116 [GRCh38]
Chr14:58927834 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2947G>A (p.Glu983Lys) single nucleotide variant Joubert syndrome 23 [RCV002040502] Chr14:58482515 [GRCh38]
Chr14:58949233 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1588A>T (p.Met530Leu) single nucleotide variant Joubert syndrome 23 [RCV001926364]|not provided [RCV002291788] Chr14:58458477 [GRCh38]
Chr14:58925195 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3971A>G (p.Gln1324Arg) single nucleotide variant Joubert syndrome 23 [RCV002003265] Chr14:58492256 [GRCh38]
Chr14:58958974 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.859A>C (p.Met287Leu) single nucleotide variant Joubert syndrome 23 [RCV001892525] Chr14:58448391 [GRCh38]
Chr14:58915109 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-1371G>A single nucleotide variant Joubert syndrome 23 [RCV001987098] Chr14:58441335 [GRCh38]
Chr14:58908053 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.*10G>A single nucleotide variant Joubert syndrome 23 [RCV002025555] Chr14:58547942 [GRCh38]
Chr14:59014660 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3355A>G (p.Thr1119Ala) single nucleotide variant Joubert syndrome 23 [RCV001895178] Chr14:58487937 [GRCh38]
Chr14:58954655 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.103T>A (p.Leu35Met) single nucleotide variant Joubert syndrome 23 [RCV001896367] Chr14:58428367 [GRCh38]
Chr14:58895085 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2743G>A (p.Ala915Thr) single nucleotide variant Joubert syndrome 23 [RCV001984628] Chr14:58474715 [GRCh38]
Chr14:58941433 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.868T>G (p.Ser290Ala) single nucleotide variant Joubert syndrome 23 [RCV001913042] Chr14:58448400 [GRCh38]
Chr14:58915118 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3205C>T (p.Pro1069Ser) single nucleotide variant Joubert syndrome 23 [RCV002042134] Chr14:58487067 [GRCh38]
Chr14:58953785 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+3791G>A single nucleotide variant Joubert syndrome 23 [RCV001894997] Chr14:58543927 [GRCh38]
Chr14:59010645 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1631T>G (p.Ile544Ser) single nucleotide variant Joubert syndrome 23 [RCV001946521] Chr14:58458520 [GRCh38]
Chr14:58925238 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2338A>G (p.Ile780Val) single nucleotide variant Joubert syndrome 23 [RCV001927637] Chr14:58467818 [GRCh38]
Chr14:58934536 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1799A>G (p.His600Arg) single nucleotide variant Joubert syndrome 23 [RCV001964829] Chr14:58459985 [GRCh38]
Chr14:58926703 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.480T>A (p.Asp160Glu) single nucleotide variant Joubert syndrome 23 [RCV001987735] Chr14:58442775 [GRCh38]
Chr14:58909493 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4451G>A (p.Arg1484Gln) single nucleotide variant Joubert syndrome 23 [RCV001894374] Chr14:58540092 [GRCh38]
Chr14:59006810 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3247C>T (p.Pro1083Ser) single nucleotide variant Joubert syndrome 23 [RCV002022841] Chr14:58487109 [GRCh38]
Chr14:58953827 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2476A>C (p.Asn826His) single nucleotide variant Joubert syndrome 23 [RCV001910000] Chr14:58470646 [GRCh38]
Chr14:58937364 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2119A>G (p.Met707Val) single nucleotide variant Joubert syndrome 23 [RCV001872371] Chr14:58465894 [GRCh38]
Chr14:58932612 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.36A>C (p.Lys12Asn) single nucleotide variant Inborn genetic diseases [RCV002545878]|Joubert syndrome 23 [RCV001864136] Chr14:58428300 [GRCh38]
Chr14:58895018 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3415_3416delinsTG (p.Asp1139Cys) indel Joubert syndrome 23 [RCV002002600] Chr14:58487997..58487998 [GRCh38]
Chr14:58954715..58954716 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.269G>C (p.Ser90Thr) single nucleotide variant Joubert syndrome 23 [RCV002004190]|not provided [RCV003313261] Chr14:58429432 [GRCh38]
Chr14:58896150 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+3767A>T single nucleotide variant Joubert syndrome 23 [RCV001949268] Chr14:58543903 [GRCh38]
Chr14:59010621 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2629A>C (p.Ile877Leu) single nucleotide variant Joubert syndrome 23 [RCV001914772] Chr14:58472274 [GRCh38]
Chr14:58938992 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3528-20A>G single nucleotide variant Joubert syndrome 23 [RCV001890484] Chr14:58488601 [GRCh38]
Chr14:58955319 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.270+3A>G single nucleotide variant Joubert syndrome 23 [RCV001872796] Chr14:58429436 [GRCh38]
Chr14:58896154 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4365C>G (p.His1455Gln) single nucleotide variant Joubert syndrome 23 [RCV001895659] Chr14:58512563 [GRCh38]
Chr14:58979281 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.815T>G (p.Phe272Cys) single nucleotide variant Joubert syndrome 23 [RCV001969491] Chr14:58448347 [GRCh38]
Chr14:58915065 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3307G>A (p.Asp1103Asn) single nucleotide variant Joubert syndrome 23 [RCV001921231] Chr14:58487889 [GRCh38]
Chr14:58954607 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1916A>G (p.Asp639Gly) single nucleotide variant Joubert syndrome 23 [RCV001978335] Chr14:58461017 [GRCh38]
Chr14:58927735 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2866T>C (p.Phe956Leu) single nucleotide variant Joubert syndrome 23 [RCV001990269] Chr14:58477163 [GRCh38]
Chr14:58943881 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3260A>G (p.Asp1087Gly) single nucleotide variant Joubert syndrome 23 [RCV001978136] Chr14:58487122 [GRCh38]
Chr14:58953840 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2201C>G (p.Pro734Arg) single nucleotide variant Joubert syndrome 23 [RCV001881929] Chr14:58465976 [GRCh38]
Chr14:58932694 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2469_2483del (p.Ile824_Ser828del) deletion Joubert syndrome 23 [RCV001897620] Chr14:58470637..58470651 [GRCh38]
Chr14:58937355..58937369 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1797A>T (p.Lys599Asn) single nucleotide variant Joubert syndrome 23 [RCV001899914] Chr14:58459983 [GRCh38]
Chr14:58926701 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4436C>G (p.Pro1479Arg) single nucleotide variant Joubert syndrome 23 [RCV001900754] Chr14:58540077 [GRCh38]
Chr14:59006795 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3797G>C (p.Gly1266Ala) single nucleotide variant Joubert syndrome 23 [RCV001897723] Chr14:58490179 [GRCh38]
Chr14:58956897 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1676A>G (p.Asp559Gly) single nucleotide variant Joubert syndrome 23 [RCV002048888] Chr14:58459862 [GRCh38]
Chr14:58926580 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2924A>G (p.Glu975Gly) single nucleotide variant Joubert syndrome 23 [RCV001977920] Chr14:58477221 [GRCh38]
Chr14:58943939 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+3795_4495+3796inv inversion Joubert syndrome 23 [RCV001921479] Chr14:58543931..58543932 [GRCh38]
Chr14:59010649..59010650 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.839G>C (p.Ser280Thr) single nucleotide variant Joubert syndrome 23 [RCV001877043] Chr14:58448371 [GRCh38]
Chr14:58915089 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1964A>G (p.His655Arg) single nucleotide variant Joubert syndrome 23 [RCV001866839] Chr14:58461065 [GRCh38]
Chr14:58927783 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2617A>G (p.Ile873Val) single nucleotide variant Joubert syndrome 23 [RCV001932032] Chr14:58472262 [GRCh38]
Chr14:58938980 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2185C>T (p.Pro729Ser) single nucleotide variant Joubert syndrome 23 [RCV001881334] Chr14:58465960 [GRCh38]
Chr14:58932678 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1253+4A>G single nucleotide variant Joubert syndrome 23 [RCV001921800] Chr14:58453477 [GRCh38]
Chr14:58920195 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2719A>G (p.Asn907Asp) single nucleotide variant Joubert syndrome 23 [RCV001916759] Chr14:58474691 [GRCh38]
Chr14:58941409 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3885A>G (p.Gln1295=) single nucleotide variant Joubert syndrome 23 [RCV001902841] Chr14:58492170 [GRCh38]
Chr14:58958888 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.-33C>G single nucleotide variant Joubert syndrome 23 [RCV002013980] Chr14:58428232 [GRCh38]
Chr14:58894950 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001244189.2(KIAA0586):c.9+4A>C single nucleotide variant Joubert syndrome 23 [RCV001987765] Chr14:58427641 [GRCh38]
Chr14:58894359 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2826-8C>A single nucleotide variant Joubert syndrome 23 [RCV002015739] Chr14:58477115 [GRCh38]
Chr14:58943833 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3631A>C (p.Lys1211Gln) single nucleotide variant Joubert syndrome 23 [RCV001936682] Chr14:58488724 [GRCh38]
Chr14:58955442 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-1363G>C single nucleotide variant Joubert syndrome 23 [RCV001878249] Chr14:58441343 [GRCh38]
Chr14:58908061 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.518T>C (p.Ile173Thr) single nucleotide variant Joubert syndrome 23 [RCV001867269] Chr14:58442813 [GRCh38]
Chr14:58909531 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001244189.2(KIAA0586):c.9+14C>T single nucleotide variant Joubert syndrome 23 [RCV001890637] Chr14:58427651 [GRCh38]
Chr14:58894369 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.2063C>A (p.Thr688Asn) single nucleotide variant Joubert syndrome 23 [RCV002028184] Chr14:58465838 [GRCh38]
Chr14:58932556 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.602A>G (p.Glu201Gly) single nucleotide variant Joubert syndrome 23 [RCV002048227] Chr14:58443970 [GRCh38]
Chr14:58910688 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3820_3822del (p.Asp1274del) deletion Joubert syndrome 23 [RCV002029372] Chr14:58490200..58490202 [GRCh38]
Chr14:58956918..58956920 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2938G>C (p.Asp980His) single nucleotide variant Joubert syndrome 23 [RCV001901172] Chr14:58477235 [GRCh38]
Chr14:58943953 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4060A>G (p.Ile1354Val) single nucleotide variant Joubert syndrome 23 [RCV001989623] Chr14:58498852 [GRCh38]
Chr14:58965570 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4094C>T (p.Pro1365Leu) single nucleotide variant Joubert syndrome 23 [RCV002026762] Chr14:58498886 [GRCh38]
Chr14:58965604 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4249G>A (p.Val1417Ile) single nucleotide variant Joubert syndrome 23 [RCV001974118] Chr14:58508635 [GRCh38]
Chr14:58975353 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.892G>A (p.Val298Ile) single nucleotide variant Inborn genetic diseases [RCV002556459]|Joubert syndrome 23 [RCV001931056] Chr14:58448424 [GRCh38]
Chr14:58915142 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1987C>T (p.Pro663Ser) single nucleotide variant Joubert syndrome 23 [RCV001990511] Chr14:58461088 [GRCh38]
Chr14:58927806 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3375G>A (p.Ala1125=) single nucleotide variant Joubert syndrome 23 [RCV001951777] Chr14:58487957 [GRCh38]
Chr14:58954675 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.2044A>T (p.Ile682Leu) single nucleotide variant Joubert syndrome 23 [RCV001898737] Chr14:58461145 [GRCh38]
Chr14:58927863 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.257T>G (p.Met86Arg) single nucleotide variant Joubert syndrome 23 [RCV002049591] Chr14:58429420 [GRCh38]
Chr14:58896138 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2269A>G (p.Asn757Asp) single nucleotide variant Joubert syndrome 23 [RCV002011980] Chr14:58467749 [GRCh38]
Chr14:58934467 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2158C>T (p.His720Tyr) single nucleotide variant Joubert syndrome 23 [RCV001990650] Chr14:58465933 [GRCh38]
Chr14:58932651 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1405C>A (p.Gln469Lys) single nucleotide variant Joubert syndrome 23 [RCV001952634] Chr14:58457801 [GRCh38]
Chr14:58924519 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2810A>G (p.Asn937Ser) single nucleotide variant Joubert syndrome 23 [RCV002046208] Chr14:58474782 [GRCh38]
Chr14:58941500 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2411A>G (p.Glu804Gly) single nucleotide variant Joubert syndrome 23 [RCV001877155] Chr14:58467891 [GRCh38]
Chr14:58934609 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3511C>G (p.Leu1171Val) single nucleotide variant Joubert syndrome 23 [RCV001875383] Chr14:58488093 [GRCh38]
Chr14:58954811 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.63_64delinsAA (p.Arg22Ser) indel Joubert syndrome 23 [RCV001919173] Chr14:58428327..58428328 [GRCh38]
Chr14:58895045..58895046 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4207A>G (p.Met1403Val) single nucleotide variant Joubert syndrome 23 [RCV002029768] Chr14:58508593 [GRCh38]
Chr14:58975311 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4429+4A>G single nucleotide variant Joubert syndrome 23 [RCV002027316] Chr14:58512631 [GRCh38]
Chr14:58979349 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4147C>T (p.Arg1383Trp) single nucleotide variant Joubert syndrome 23 [RCV001897458] Chr14:58498939 [GRCh38]
Chr14:58965657 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1093del (p.Glu365fs) deletion Joubert syndrome 23 [RCV001953813] Chr14:58450709 [GRCh38]
Chr14:58917427 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4456C>T (p.Gln1486Ter) single nucleotide variant Joubert syndrome 23 [RCV001870451] Chr14:58540097 [GRCh38]
Chr14:59006815 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1574C>G (p.Ser525Cys) single nucleotide variant Joubert syndrome 23 [RCV001881058] Chr14:58457970 [GRCh38]
Chr14:58924688 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3432A>C (p.Ser1144=) single nucleotide variant Joubert syndrome 23 [RCV001902577] Chr14:58488014 [GRCh38]
Chr14:58954732 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.811C>T (p.His271Tyr) single nucleotide variant Joubert syndrome 23 [RCV001991771] Chr14:58448343 [GRCh38]
Chr14:58915061 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4286A>G (p.Asp1429Gly) single nucleotide variant Inborn genetic diseases [RCV002608081]|Joubert syndrome 23 [RCV002012484]|KIAA0586-related condition [RCV003426277] Chr14:58508672 [GRCh38]
Chr14:58975390 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1433A>G (p.Asn478Ser) single nucleotide variant Joubert syndrome 23 [RCV001991899] Chr14:58457829 [GRCh38]
Chr14:58924547 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001244189.2(KIAA0586):c.4T>C (p.Phe2Leu) single nucleotide variant Joubert syndrome 23 [RCV001976752] Chr14:58427632 [GRCh38]
Chr14:58894350 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.155G>A (p.Arg52His) single nucleotide variant Joubert syndrome 23 [RCV002027523] Chr14:58428419 [GRCh38]
Chr14:58895137 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2228A>T (p.His743Leu) single nucleotide variant Joubert syndrome 23 [RCV001991915] Chr14:58466003 [GRCh38]
Chr14:58932721 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2047_2048del (p.Glu683fs) deletion Joubert syndrome 23 [RCV001972654] Chr14:58461147..58461148 [GRCh38]
Chr14:58927865..58927866 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.3142_3144+5del deletion Joubert syndrome 23 [RCV002027614]|Joubert syndrome 23 [RCV003322629] Chr14:58482708..58482715 [GRCh38]
Chr14:58949426..58949433 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic
NM_001329943.3(KIAA0586):c.2033G>A (p.Arg678Lys) single nucleotide variant Joubert syndrome 23 [RCV001918001]|Joubert syndrome 23 [RCV003320389] Chr14:58461134 [GRCh38]
Chr14:58927852 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-1486G>A single nucleotide variant Joubert syndrome 23 [RCV002049109] Chr14:58441220 [GRCh38]
Chr14:58907938 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.1528C>T (p.Arg510Cys) single nucleotide variant Inborn genetic diseases [RCV002573538]|Joubert syndrome 23 [RCV001994028] Chr14:58457924 [GRCh38]
Chr14:58924642 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2822A>T (p.Gln941Leu) single nucleotide variant Joubert syndrome 23 [RCV001866879] Chr14:58474794 [GRCh38]
Chr14:58941512 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1237C>T (p.Pro413Ser) single nucleotide variant Inborn genetic diseases [RCV003170474]|Joubert syndrome 23 [RCV001991491]|not provided [RCV002509737] Chr14:58453457 [GRCh38]
Chr14:58920175 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2141C>G (p.Ser714Cys) single nucleotide variant Joubert syndrome 23 [RCV001994358] Chr14:58465916 [GRCh38]
Chr14:58932634 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1847G>C (p.Gly616Ala) single nucleotide variant Joubert syndrome 23 [RCV002011395] Chr14:58460033 [GRCh38]
Chr14:58926751 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1254-19A>T single nucleotide variant Joubert syndrome 23 [RCV002027233] Chr14:58456683 [GRCh38]
Chr14:58923401 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3857T>C (p.Met1286Thr) single nucleotide variant Joubert syndrome 23 [RCV001876537] Chr14:58490239 [GRCh38]
Chr14:58956957 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2104A>G (p.Thr702Ala) single nucleotide variant Joubert syndrome 23 [RCV002050295] Chr14:58465879 [GRCh38]
Chr14:58932597 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4323+5C>G single nucleotide variant Joubert syndrome 23 [RCV001877246] Chr14:58508714 [GRCh38]
Chr14:58975432 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1872del (p.Glu625fs) deletion Joubert syndrome 23 [RCV001972308] Chr14:58460056 [GRCh38]
Chr14:58926774 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.319G>A (p.Glu107Lys) single nucleotide variant Joubert syndrome 23 [RCV001879720] Chr14:58430696 [GRCh38]
Chr14:58897414 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2T>A (p.Met1Lys) single nucleotide variant Joubert syndrome 23 [RCV002048124] Chr14:58428266 [GRCh38]
Chr14:58894984 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3910T>A (p.Phe1304Ile) single nucleotide variant Joubert syndrome 23 [RCV001918367] Chr14:58492195 [GRCh38]
Chr14:58958913 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1896A>G (p.Lys632=) single nucleotide variant Joubert syndrome 23 [RCV001954156] Chr14:58460997 [GRCh38]
Chr14:58927715 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.419G>A (p.Ser140Asn) single nucleotide variant Joubert syndrome 23 [RCV001918395] Chr14:58442714 [GRCh38]
Chr14:58909432 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3259G>A (p.Asp1087Asn) single nucleotide variant Joubert syndrome 23 [RCV002031160] Chr14:58487121 [GRCh38]
Chr14:58953839 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe) single nucleotide variant Inborn genetic diseases [RCV002553669]|Joubert syndrome 23 [RCV001920006]|KIAA0586-related condition [RCV003401847] Chr14:58428407 [GRCh38]
Chr14:58895125 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2418G>C (p.Lys806Asn) single nucleotide variant Inborn genetic diseases [RCV002550284]|Joubert syndrome 23 [RCV001901901] Chr14:58467898 [GRCh38]
Chr14:58934616 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3261T>A (p.Asp1087Glu) single nucleotide variant Joubert syndrome 23 [RCV001935118] Chr14:58487123 [GRCh38]
Chr14:58953841 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3144+3A>G single nucleotide variant Joubert syndrome 23 [RCV001880419] Chr14:58482715 [GRCh38]
Chr14:58949433 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3518C>G (p.Pro1173Arg) single nucleotide variant Joubert syndrome 23 [RCV001994197] Chr14:58488100 [GRCh38]
Chr14:58954818 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3350C>A (p.Thr1117Asn) single nucleotide variant Joubert syndrome 23 [RCV001921190] Chr14:58487932 [GRCh38]
Chr14:58954650 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1396G>A (p.Asp466Asn) single nucleotide variant Joubert syndrome 23 [RCV001920604] Chr14:58457792 [GRCh38]
Chr14:58924510 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.928C>T (p.Pro310Ser) single nucleotide variant Joubert syndrome 23 [RCV002014276]|not provided [RCV002466739] Chr14:58448460 [GRCh38]
Chr14:58915178 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3884A>G (p.Gln1295Arg) single nucleotide variant Joubert syndrome 23 [RCV001932018] Chr14:58492169 [GRCh38]
Chr14:58958887 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.983A>T (p.Asp328Val) single nucleotide variant Joubert syndrome 23 [RCV001867838] Chr14:58450600 [GRCh38]
Chr14:58917318 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4346A>T (p.Asp1449Val) single nucleotide variant Joubert syndrome 23 [RCV001976986] Chr14:58512544 [GRCh38]
Chr14:58979262 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4512A>G (p.Pro1504=) single nucleotide variant Joubert syndrome 23 [RCV001989624] Chr14:58547797 [GRCh38]
Chr14:59014515 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2943T>G (p.Ile981Met) single nucleotide variant Inborn genetic diseases [RCV002592659]|Joubert syndrome 23 [RCV002010230] Chr14:58477240 [GRCh38]
Chr14:58943958 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1738A>G (p.Lys580Glu) single nucleotide variant Joubert syndrome 23 [RCV001900993] Chr14:58459924 [GRCh38]
Chr14:58926642 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.592A>C (p.Ser198Arg) single nucleotide variant Joubert syndrome 23 [RCV001933091] Chr14:58443960 [GRCh38]
Chr14:58910678 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3373G>A (p.Ala1125Thr) single nucleotide variant Joubert syndrome 23 [RCV001867025] Chr14:58487955 [GRCh38]
Chr14:58954673 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4475_4476insTTAA (p.Tyr1492_Leu1493insTer) insertion Joubert syndrome 23 [RCV001951107] Chr14:58540115..58540116 [GRCh38]
Chr14:59006833..59006834 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.832A>G (p.Lys278Glu) single nucleotide variant Joubert syndrome 23 [RCV002046263] Chr14:58448364 [GRCh38]
Chr14:58915082 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.154C>T (p.Arg52Cys) single nucleotide variant Joubert syndrome 23 [RCV001951764] Chr14:58428418 [GRCh38]
Chr14:58895136 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2654A>G (p.Glu885Gly) single nucleotide variant Joubert syndrome 23 [RCV001951838] Chr14:58474626 [GRCh38]
Chr14:58941344 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.*3G>A single nucleotide variant Joubert syndrome 23 [RCV001878390] Chr14:58547935 [GRCh38]
Chr14:59014653 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1791A>G (p.Pro597=) single nucleotide variant Joubert syndrome 23 [RCV001953467] Chr14:58459977 [GRCh38]
Chr14:58926695 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+3779A>G single nucleotide variant Joubert syndrome 23 [RCV002029677] Chr14:58543915 [GRCh38]
Chr14:59010633 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.919A>G (p.Ser307Gly) single nucleotide variant Joubert syndrome 23 [RCV001866600] Chr14:58448451 [GRCh38]
Chr14:58915169 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3149G>A (p.Arg1050Lys) single nucleotide variant Inborn genetic diseases [RCV002563521]|Joubert syndrome 23 [RCV002012135] Chr14:58487011 [GRCh38]
Chr14:58953729 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3437C>T (p.Pro1146Leu) single nucleotide variant Joubert syndrome 23 [RCV002028673] Chr14:58488019 [GRCh38]
Chr14:58954737 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1478G>C (p.Gly493Ala) single nucleotide variant Inborn genetic diseases [RCV003264240]|Joubert syndrome 23 [RCV001918347] Chr14:58457874 [GRCh38]
Chr14:58924592 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.70G>T (p.Val24Leu) single nucleotide variant Joubert syndrome 23 [RCV001879049] Chr14:58428334 [GRCh38]
Chr14:58895052 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1444T>C (p.Ser482Pro) single nucleotide variant Joubert syndrome 23 [RCV001997048] Chr14:58457840 [GRCh38]
Chr14:58924558 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.807+9A>G single nucleotide variant Joubert syndrome 23 [RCV002206337] Chr14:58444184 [GRCh38]
Chr14:58910902 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+3790C>T single nucleotide variant Joubert syndrome 23 [RCV002126092] Chr14:58543926 [GRCh38]
Chr14:59010644 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.783A>G (p.Leu261=) single nucleotide variant Joubert syndrome 23 [RCV002126250] Chr14:58444151 [GRCh38]
Chr14:58910869 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1407G>T (p.Gln469His) single nucleotide variant Joubert syndrome 23 [RCV002034442] Chr14:58457803 [GRCh38]
Chr14:58924521 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3599C>T (p.Pro1200Leu) single nucleotide variant Joubert syndrome 23 [RCV001960356]|not provided [RCV003120766] Chr14:58488692 [GRCh38]
Chr14:58955410 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2623G>A (p.Asp875Asn) single nucleotide variant Joubert syndrome 23 [RCV001887515] Chr14:58472268 [GRCh38]
Chr14:58938986 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+3802G>A single nucleotide variant Joubert syndrome 23 [RCV002187420] Chr14:58543938 [GRCh38]
Chr14:59010656 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.411-1369A>G single nucleotide variant Joubert syndrome 23 [RCV001978395] Chr14:58441337 [GRCh38]
Chr14:58908055 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3782-18T>C single nucleotide variant Joubert syndrome 23 [RCV002125616] Chr14:58490146 [GRCh38]
Chr14:58956864 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.730G>C (p.Glu244Gln) single nucleotide variant Inborn genetic diseases [RCV004040675]|Joubert syndrome 23 [RCV001885654] Chr14:58444098 [GRCh38]
Chr14:58910816 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1516G>A (p.Glu506Lys) single nucleotide variant Joubert syndrome 23 [RCV001922494] Chr14:58457912 [GRCh38]
Chr14:58924630 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1657G>C (p.Asp553His) single nucleotide variant Joubert syndrome 23 [RCV001939210] Chr14:58459843 [GRCh38]
Chr14:58926561 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3620C>T (p.Pro1207Leu) single nucleotide variant Joubert syndrome 23 [RCV001905968] Chr14:58488713 [GRCh38]
Chr14:58955431 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3391C>T (p.Pro1131Ser) single nucleotide variant Joubert syndrome 23 [RCV001998937] Chr14:58487973 [GRCh38]
Chr14:58954691 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.199+13A>C single nucleotide variant Joubert syndrome 23 [RCV002187205] Chr14:58428476 [GRCh38]
Chr14:58895194 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.126T>A (p.Cys42Ter) single nucleotide variant Joubert syndrome 23 [RCV001883674] Chr14:58428390 [GRCh38]
Chr14:58895108 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2825+1G>A single nucleotide variant Joubert syndrome 23 [RCV002018695] Chr14:58474798 [GRCh38]
Chr14:58941516 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3638del (p.Pro1213fs) deletion Joubert syndrome 23 [RCV001999879] Chr14:58488728 [GRCh38]
Chr14:58955446 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.848A>G (p.Gln283Arg) single nucleotide variant Joubert syndrome 23 [RCV001960141] Chr14:58448380 [GRCh38]
Chr14:58915098 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2511C>A (p.Ser837Arg) single nucleotide variant Joubert syndrome 23 [RCV001886140] Chr14:58470681 [GRCh38]
Chr14:58937399 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.938del (p.Tyr313fs) deletion Joubert syndrome 23 [RCV002037885] Chr14:58448470 [GRCh38]
Chr14:58915188 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.340+15T>C single nucleotide variant Joubert syndrome 23 [RCV002185170] Chr14:58430732 [GRCh38]
Chr14:58897450 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2521G>A (p.Ala841Thr) single nucleotide variant Joubert syndrome 23 [RCV001959267] Chr14:58470691 [GRCh38]
Chr14:58937409 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3404A>G (p.Asp1135Gly) single nucleotide variant Joubert syndrome 23 [RCV002037256] Chr14:58487986 [GRCh38]
Chr14:58954704 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2171A>G (p.Gln724Arg) single nucleotide variant Joubert syndrome 23 [RCV001923134] Chr14:58465946 [GRCh38]
Chr14:58932664 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4572C>T (p.Leu1524=) single nucleotide variant Joubert syndrome 23 [RCV001904451] Chr14:58547857 [GRCh38]
Chr14:59014575 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.986C>T (p.Thr329Met) single nucleotide variant Joubert syndrome 23 [RCV001925243] Chr14:58450603 [GRCh38]
Chr14:58917321 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4226A>G (p.Glu1409Gly) single nucleotide variant Joubert syndrome 23 [RCV001962217] Chr14:58508612 [GRCh38]
Chr14:58975330 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.420C>T (p.Ser140=) single nucleotide variant Joubert syndrome 23 [RCV001997516] Chr14:58442715 [GRCh38]
Chr14:58909433 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.2486C>T (p.Ala829Val) single nucleotide variant Joubert syndrome 23 [RCV001882167] Chr14:58470656 [GRCh38]
Chr14:58937374 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.745G>A (p.Val249Met) single nucleotide variant Joubert syndrome 23 [RCV001938003] Chr14:58444113 [GRCh38]
Chr14:58910831 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4590T>G (p.Ser1530=) single nucleotide variant Joubert syndrome 23 [RCV002038803] Chr14:58547875 [GRCh38]
Chr14:59014593 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3374C>T (p.Ala1125Val) single nucleotide variant Inborn genetic diseases [RCV003161186]|Joubert syndrome 23 [RCV002016160] Chr14:58487956 [GRCh38]
Chr14:58954674 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3682A>G (p.Ser1228Gly) single nucleotide variant Joubert syndrome 23 [RCV001882223] Chr14:58488775 [GRCh38]
Chr14:58955493 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2123A>G (p.Asp708Gly) single nucleotide variant Joubert syndrome 23 [RCV001961701] Chr14:58465898 [GRCh38]
Chr14:58932616 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1409A>G (p.Asn470Ser) single nucleotide variant Joubert syndrome 23 [RCV002037542] Chr14:58457805 [GRCh38]
Chr14:58924523 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2417A>G (p.Lys806Arg) single nucleotide variant Joubert syndrome 23 [RCV001936958] Chr14:58467897 [GRCh38]
Chr14:58934615 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3633G>A (p.Lys1211=) single nucleotide variant Joubert syndrome 23 [RCV002035936] Chr14:58488726 [GRCh38]
Chr14:58955444 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.4324-4T>G single nucleotide variant Joubert syndrome 23 [RCV001903796] Chr14:58512518 [GRCh38]
Chr14:58979236 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.367A>T (p.Thr123Ser) single nucleotide variant Inborn genetic diseases [RCV002642036]|Joubert syndrome 23 [RCV002019452]|KIAA0586-related condition [RCV003402033] Chr14:58432414 [GRCh38]
Chr14:58899132 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2442+11del deletion Joubert syndrome 23 [RCV001981811] Chr14:58467931 [GRCh38]
Chr14:58934649 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.2050C>T (p.Arg684Ter) single nucleotide variant Joubert syndrome 23 [RCV001906886]|Joubert syndrome and related disorders [RCV003492698] Chr14:58461151 [GRCh38]
Chr14:58927869 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.3670T>G (p.Ser1224Ala) single nucleotide variant Joubert syndrome 23 [RCV002036344] Chr14:58488763 [GRCh38]
Chr14:58955481 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.271-11A>G single nucleotide variant Joubert syndrome 23 [RCV002104372] Chr14:58430637 [GRCh38]
Chr14:58897355 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4316T>C (p.Phe1439Ser) single nucleotide variant Joubert syndrome 23 [RCV001980889] Chr14:58508702 [GRCh38]
Chr14:58975420 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2723G>C (p.Gly908Ala) single nucleotide variant Joubert syndrome 23 [RCV001962599] Chr14:58474695 [GRCh38]
Chr14:58941413 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1885-2A>G single nucleotide variant Joubert syndrome 23 [RCV002038452] Chr14:58460984 [GRCh38]
Chr14:58927702 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3366TCC[1] (p.Pro1124del) microsatellite Joubert syndrome 23 [RCV001981022] Chr14:58487946..58487948 [GRCh38]
Chr14:58954664..58954666 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2892T>C (p.Pro964=) single nucleotide variant Joubert syndrome 23 [RCV002018566] Chr14:58477189 [GRCh38]
Chr14:58943907 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4430-6dup duplication Joubert syndrome 23 [RCV002105376] Chr14:58540064..58540065 [GRCh38]
Chr14:59006782..59006783 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.620T>C (p.Val207Ala) single nucleotide variant Inborn genetic diseases [RCV003355700]|Joubert syndrome 23 [RCV001997038] Chr14:58443988 [GRCh38]
Chr14:58910706 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.784CAA[3] (p.Gln265del) microsatellite Joubert syndrome 23 [RCV001960169] Chr14:58444151..58444153 [GRCh38]
Chr14:58910869..58910871 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1203C>T (p.Thr401=) single nucleotide variant Joubert syndrome 23 [RCV002108255] Chr14:58453423 [GRCh38]
Chr14:58920141 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2279C>A (p.Thr760Asn) single nucleotide variant Joubert syndrome 23 [RCV002039007] Chr14:58467759 [GRCh38]
Chr14:58934477 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4225del (p.Glu1409fs) deletion Joubert syndrome 23 [RCV001960496] Chr14:58508610 [GRCh38]
Chr14:58975328 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1369G>C (p.Glu457Gln) single nucleotide variant Joubert syndrome 23 [RCV002020028] Chr14:58457765 [GRCh38]
Chr14:58924483 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.622dup (p.Thr208fs) duplication Joubert syndrome 23 [RCV001904591] Chr14:58443989..58443990 [GRCh38]
Chr14:58910707..58910708 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4156G>T (p.Asp1386Tyr) single nucleotide variant Joubert syndrome 23 [RCV002019057] Chr14:58498948 [GRCh38]
Chr14:58965666 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3089G>A (p.Gly1030Asp) single nucleotide variant Joubert syndrome 23 [RCV001999508] Chr14:58482657 [GRCh38]
Chr14:58949375 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+3777del deletion Joubert syndrome 23 [RCV002037920] Chr14:58543913 [GRCh38]
Chr14:59010631 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4496-3808A>C single nucleotide variant Joubert syndrome 23 [RCV002000673] Chr14:58543973 [GRCh38]
Chr14:59010691 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1129+1G>A single nucleotide variant Joubert syndrome 23 [RCV001979561] Chr14:58450747 [GRCh38]
Chr14:58917465 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.193T>C (p.Ser65Pro) single nucleotide variant Joubert syndrome 23 [RCV001882324] Chr14:58428457 [GRCh38]
Chr14:58895175 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3700del (p.Val1234fs) deletion Joubert syndrome 23 [RCV001939177] Chr14:58488793 [GRCh38]
Chr14:58955511 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4096G>A (p.Val1366Ile) single nucleotide variant Joubert syndrome 23 [RCV001885678] Chr14:58498888 [GRCh38]
Chr14:58965606 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2354G>A (p.Arg785Gln) single nucleotide variant Joubert syndrome 23 [RCV001981770] Chr14:58467834 [GRCh38]
Chr14:58934552 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3542C>G (p.Ala1181Gly) single nucleotide variant Inborn genetic diseases [RCV002579576]|Joubert syndrome 23 [RCV001995762] Chr14:58488635 [GRCh38]
Chr14:58955353 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.792A>T (p.Gln264His) single nucleotide variant Joubert syndrome 23 [RCV001960901] Chr14:58444160 [GRCh38]
Chr14:58910878 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4089G>C (p.Gln1363His) single nucleotide variant Joubert syndrome 23 [RCV002001004] Chr14:58498881 [GRCh38]
Chr14:58965599 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4473G>A (p.Pro1491=) single nucleotide variant Joubert syndrome 23 [RCV002126733]|KIAA0586-related condition [RCV003978664] Chr14:58540114 [GRCh38]
Chr14:59006832 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4168+13A>G single nucleotide variant Joubert syndrome 23 [RCV001888009] Chr14:58498973 [GRCh38]
Chr14:58965691 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.3914A>T (p.His1305Leu) single nucleotide variant Inborn genetic diseases [RCV002555681]|Joubert syndrome 23 [RCV001907066] Chr14:58492199 [GRCh38]
Chr14:58958917 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1196C>T (p.Ser399Leu) single nucleotide variant Joubert syndrome 23 [RCV001888092] Chr14:58453416 [GRCh38]
Chr14:58920134 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2984A>G (p.Asp995Gly) single nucleotide variant Joubert syndrome 23 [RCV001978970] Chr14:58482552 [GRCh38]
Chr14:58949270 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.568G>A (p.Ala190Thr) single nucleotide variant Joubert syndrome 23 [RCV001943092] Chr14:58442863 [GRCh38]
Chr14:58909581 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1031G>A (p.Arg344His) single nucleotide variant Inborn genetic diseases [RCV002556346]|Joubert syndrome 23 [RCV001943361] Chr14:58450648 [GRCh38]
Chr14:58917366 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.807+8del deletion Joubert syndrome 23 [RCV001944879] Chr14:58444183 [GRCh38]
Chr14:58910901 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2092G>T (p.Asp698Tyr) single nucleotide variant Joubert syndrome 23 [RCV002038734] Chr14:58465867 [GRCh38]
Chr14:58932585 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2856C>T (p.Ile952=) single nucleotide variant Joubert syndrome 23 [RCV002088299]|KIAA0586-related condition [RCV003911328] Chr14:58477153 [GRCh38]
Chr14:58943871 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.807+3A>T single nucleotide variant Joubert syndrome 23 [RCV001981217]|not provided [RCV003130666] Chr14:58444178 [GRCh38]
Chr14:58910896 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3143C>T (p.Pro1048Leu) single nucleotide variant Joubert syndrome 23 [RCV001998961] Chr14:58482711 [GRCh38]
Chr14:58949429 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3841C>T (p.His1281Tyr) single nucleotide variant Joubert syndrome 23 [RCV001883037] Chr14:58490223 [GRCh38]
Chr14:58956941 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3988G>A (p.Glu1330Lys) single nucleotide variant Joubert syndrome 23 [RCV002034134] Chr14:58492273 [GRCh38]
Chr14:58958991 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3399G>T (p.Leu1133Phe) single nucleotide variant Joubert syndrome 23 [RCV001884996] Chr14:58487981 [GRCh38]
Chr14:58954699 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2634+4A>G single nucleotide variant Joubert syndrome 23 [RCV001925788] Chr14:58472283 [GRCh38]
Chr14:58939001 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3047C>T (p.Thr1016Ile) single nucleotide variant Joubert syndrome 23 [RCV002016164]|not provided [RCV003883738] Chr14:58482615 [GRCh38]
Chr14:58949333 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2965G>A (p.Ala989Thr) single nucleotide variant Joubert syndrome 23 [RCV001959777] Chr14:58482533 [GRCh38]
Chr14:58949251 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2287C>T (p.Pro763Ser) single nucleotide variant Joubert syndrome 23 [RCV001999023] Chr14:58467767 [GRCh38]
Chr14:58934485 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1152A>C (p.Gln384His) single nucleotide variant Joubert syndrome 23 [RCV002019672] Chr14:58453372 [GRCh38]
Chr14:58920090 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.729C>G (p.His243Gln) single nucleotide variant Inborn genetic diseases [RCV002552754]|Joubert syndrome 23 [RCV001883232] Chr14:58444097 [GRCh38]
Chr14:58910815 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.968T>C (p.Leu323Ser) single nucleotide variant Joubert syndrome 23 [RCV001883132] Chr14:58450585 [GRCh38]
Chr14:58917303 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2026C>T (p.Pro676Ser) single nucleotide variant Inborn genetic diseases [RCV002561430]|Joubert syndrome 23 [RCV001982126] Chr14:58461127 [GRCh38]
Chr14:58927845 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+3785A>T single nucleotide variant Joubert syndrome 23 [RCV001960503] Chr14:58543921 [GRCh38]
Chr14:59010639 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2324C>A (p.Thr775Asn) single nucleotide variant Joubert syndrome 23 [RCV001940608] Chr14:58467804 [GRCh38]
Chr14:58934522 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.881A>G (p.Glu294Gly) single nucleotide variant Joubert syndrome 23 [RCV001922669] Chr14:58448413 [GRCh38]
Chr14:58915131 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.363G>T (p.Gln121His) single nucleotide variant Joubert syndrome 23 [RCV002017201] Chr14:58432410 [GRCh38]
Chr14:58899128 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.655A>G (p.Lys219Glu) single nucleotide variant Joubert syndrome 23 [RCV001961315] Chr14:58444023 [GRCh38]
Chr14:58910741 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.976G>A (p.Val326Ile) single nucleotide variant Joubert syndrome 23 [RCV002037410] Chr14:58450593 [GRCh38]
Chr14:58917311 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3G>A (p.Met1Ile) single nucleotide variant Joubert syndrome 23 [RCV002036016] Chr14:58428267 [GRCh38]
Chr14:58894985 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1920A>G (p.Glu640=) single nucleotide variant Joubert syndrome 23 [RCV002189813] Chr14:58461021 [GRCh38]
Chr14:58927739 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4137A>G (p.Lys1379=) single nucleotide variant Joubert syndrome 23 [RCV002128715] Chr14:58498929 [GRCh38]
Chr14:58965647 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4324-16A>G single nucleotide variant Joubert syndrome 23 [RCV002209198] Chr14:58512506 [GRCh38]
Chr14:58979224 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001244189.2(KIAA0586):c.9+12G>C single nucleotide variant Joubert syndrome 23 [RCV002096963] Chr14:58427649 [GRCh38]
Chr14:58894367 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.285C>T (p.Asp95=) single nucleotide variant Joubert syndrome 23 [RCV002109663] Chr14:58430662 [GRCh38]
Chr14:58897380 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4505C>T (p.Ala1502Val) single nucleotide variant Joubert syndrome 23 [RCV002127787] Chr14:58547790 [GRCh38]
Chr14:59014508 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2443-4T>C single nucleotide variant Joubert syndrome 23 [RCV002145294] Chr14:58470609 [GRCh38]
Chr14:58937327 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=) single nucleotide variant Joubert syndrome 23 [RCV002110714]|KIAA0586-related condition [RCV003913798] Chr14:58508697 [GRCh38]
Chr14:58975415 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.3594A>G (p.Pro1198=) single nucleotide variant Joubert syndrome 23 [RCV002112691] Chr14:58488687 [GRCh38]
Chr14:58955405 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1059G>A (p.Arg353=) single nucleotide variant Joubert syndrome 23 [RCV002145459] Chr14:58450676 [GRCh38]
Chr14:58917394 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4329A>G (p.Gln1443=) single nucleotide variant Joubert syndrome 23 [RCV002111360] Chr14:58512527 [GRCh38]
Chr14:58979245 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3781+20T>G single nucleotide variant Joubert syndrome 23 [RCV002112444] Chr14:58488894 [GRCh38]
Chr14:58955612 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3474A>C (p.Pro1158=) single nucleotide variant Joubert syndrome 23 [RCV002192781] Chr14:58488056 [GRCh38]
Chr14:58954774 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3120T>G (p.Ala1040=) single nucleotide variant Joubert syndrome 23 [RCV002145717] Chr14:58482688 [GRCh38]
Chr14:58949406 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1395A>G (p.Pro465=) single nucleotide variant Joubert syndrome 23 [RCV002148651] Chr14:58457791 [GRCh38]
Chr14:58924509 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3162A>T (p.Pro1054=) single nucleotide variant Joubert syndrome 23 [RCV002211467] Chr14:58487024 [GRCh38]
Chr14:58953742 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3304+9_3304+10insAG insertion Joubert syndrome 23 [RCV002168214] Chr14:58487175..58487176 [GRCh38]
Chr14:58953893..58953894 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.962-10dup duplication Joubert syndrome 23 [RCV002129775] Chr14:58450565..58450566 [GRCh38]
Chr14:58917283..58917284 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.888T>C (p.Tyr296=) single nucleotide variant Joubert syndrome 23 [RCV002128126] Chr14:58448420 [GRCh38]
Chr14:58915138 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1884+15T>C single nucleotide variant Joubert syndrome 23 [RCV002168329] Chr14:58460085 [GRCh38]
Chr14:58926803 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4496-3801G>A single nucleotide variant Joubert syndrome 23 [RCV002128687] Chr14:58543980 [GRCh38]
Chr14:59010698 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4332A>G (p.Leu1444=) single nucleotide variant Joubert syndrome 23 [RCV002146140] Chr14:58512530 [GRCh38]
Chr14:58979248 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.33A>G (p.Lys11=) single nucleotide variant Joubert syndrome 23 [RCV002127718] Chr14:58428297 [GRCh38]
Chr14:58895015 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3216G>A (p.Glu1072=) single nucleotide variant Joubert syndrome 23 [RCV002112717] Chr14:58487078 [GRCh38]
Chr14:58953796 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3696T>C (p.Val1232=) single nucleotide variant Joubert syndrome 23 [RCV002093956] Chr14:58488789 [GRCh38]
Chr14:58955507 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.786A>G (p.Gln262=) single nucleotide variant Joubert syndrome 23 [RCV002114053] Chr14:58444154 [GRCh38]
Chr14:58910872 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3183G>A (p.Thr1061=) single nucleotide variant Joubert syndrome 23 [RCV002110642] Chr14:58487045 [GRCh38]
Chr14:58953763 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.962-14A>T single nucleotide variant Joubert syndrome 23 [RCV002147414] Chr14:58450565 [GRCh38]
Chr14:58917283 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4035C>T (p.Pro1345=) single nucleotide variant Joubert syndrome 23 [RCV002111022] Chr14:58498827 [GRCh38]
Chr14:58965545 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4628C>T (p.Ser1543Leu) single nucleotide variant Inborn genetic diseases [RCV003089099]|Joubert syndrome 23 [RCV002208510] Chr14:58547913 [GRCh38]
Chr14:59014631 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.1583+7G>A single nucleotide variant Joubert syndrome 23 [RCV002166926] Chr14:58457986 [GRCh38]
Chr14:58924704 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2255-11A>G single nucleotide variant Joubert syndrome 23 [RCV002093634] Chr14:58467724 [GRCh38]
Chr14:58934442 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2635-17G>T single nucleotide variant Joubert syndrome 23 [RCV002171088] Chr14:58474590 [GRCh38]
Chr14:58941308 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3030C>T (p.Asn1010=) single nucleotide variant Joubert syndrome 23 [RCV002131357] Chr14:58482598 [GRCh38]
Chr14:58949316 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2505G>A (p.Leu835=) single nucleotide variant Joubert syndrome 23 [RCV002114399] Chr14:58470675 [GRCh38]
Chr14:58937393 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4595G>A (p.Ser1532Asn) single nucleotide variant Joubert syndrome 23 [RCV002090517] Chr14:58547880 [GRCh38]
Chr14:59014598 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4113T>C (p.Ser1371=) single nucleotide variant Joubert syndrome 23 [RCV002145296] Chr14:58498905 [GRCh38]
Chr14:58965623 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1836A>G (p.Leu612=) single nucleotide variant Joubert syndrome 23 [RCV002126886] Chr14:58460022 [GRCh38]
Chr14:58926740 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1885-11T>C single nucleotide variant Joubert syndrome 23 [RCV002172571] Chr14:58460975 [GRCh38]
Chr14:58927693 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2997T>G (p.Pro999=) single nucleotide variant Joubert syndrome 23 [RCV002094966] Chr14:58482565 [GRCh38]
Chr14:58949283 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1584-14T>C single nucleotide variant Joubert syndrome 23 [RCV002112246] Chr14:58458459 [GRCh38]
Chr14:58925177 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.200-15C>T single nucleotide variant Joubert syndrome 23 [RCV002192621] Chr14:58429348 [GRCh38]
Chr14:58896066 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2028A>G (p.Pro676=) single nucleotide variant Joubert syndrome 23 [RCV002095801]|KIAA0586-related condition [RCV003913657] Chr14:58461129 [GRCh38]
Chr14:58927847 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1836A>C (p.Leu612=) single nucleotide variant Joubert syndrome 23 [RCV002096703] Chr14:58460022 [GRCh38]
Chr14:58926740 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2944+8A>C single nucleotide variant Joubert syndrome 23 [RCV002127332]|KIAA0586-related condition [RCV003903422] Chr14:58477249 [GRCh38]
Chr14:58943967 [GRCh37]
Chr14:14q23.1		 benign|likely benign
NM_001329943.3(KIAA0586):c.4326C>T (p.Tyr1442=) single nucleotide variant Joubert syndrome 23 [RCV002212287] Chr14:58512524 [GRCh38]
Chr14:58979242 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1143A>G (p.Leu381=) single nucleotide variant Joubert syndrome 23 [RCV002095354] Chr14:58453363 [GRCh38]
Chr14:58920081 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3528-15T>G single nucleotide variant Joubert syndrome 23 [RCV002091595] Chr14:58488606 [GRCh38]
Chr14:58955324 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1779A>G (p.Lys593=) single nucleotide variant Joubert syndrome 23 [RCV002152977] Chr14:58459965 [GRCh38]
Chr14:58926683 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3651G>A (p.Gln1217=) single nucleotide variant Joubert syndrome 23 [RCV002215422] Chr14:58488744 [GRCh38]
Chr14:58955462 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1129+16A>C single nucleotide variant Joubert syndrome 23 [RCV002174000] Chr14:58450762 [GRCh38]
Chr14:58917480 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.36A>G (p.Lys12=) single nucleotide variant Joubert syndrome 23 [RCV002213450] Chr14:58428300 [GRCh38]
Chr14:58895018 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.24G>A (p.Leu8=) single nucleotide variant Joubert syndrome 23 [RCV002095981] Chr14:58428288 [GRCh38]
Chr14:58895006 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1885-5C>T single nucleotide variant Joubert syndrome 23 [RCV002134099] Chr14:58460981 [GRCh38]
Chr14:58927699 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4437A>G (p.Pro1479=) single nucleotide variant Joubert syndrome 23 [RCV002076772] Chr14:58540078 [GRCh38]
Chr14:59006796 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.808-14C>G single nucleotide variant Joubert syndrome 23 [RCV002133752] Chr14:58448326 [GRCh38]
Chr14:58915044 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4430-15T>A single nucleotide variant Joubert syndrome 23 [RCV002094908] Chr14:58540056 [GRCh38]
Chr14:59006774 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1917T>C (p.Asp639=) single nucleotide variant Joubert syndrome 23 [RCV002208473] Chr14:58461018 [GRCh38]
Chr14:58927736 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3527+12C>T single nucleotide variant Joubert syndrome 23 [RCV002172653] Chr14:58488121 [GRCh38]
Chr14:58954839 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.962-15A>C single nucleotide variant Joubert syndrome 23 [RCV002215887] Chr14:58450564 [GRCh38]
Chr14:58917282 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.808-13T>G single nucleotide variant Joubert syndrome 23 [RCV002115178] Chr14:58448327 [GRCh38]
Chr14:58915045 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2823A>G (p.Gln941=) single nucleotide variant Joubert syndrome 23 [RCV002116375] Chr14:58474795 [GRCh38]
Chr14:58941513 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1363-18G>A single nucleotide variant Joubert syndrome 23 [RCV002072801] Chr14:58457741 [GRCh38]
Chr14:58924459 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.201T>C (p.Gly67=) single nucleotide variant Joubert syndrome 23 [RCV002151678] Chr14:58429364 [GRCh38]
Chr14:58896082 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3687A>G (p.Thr1229=) single nucleotide variant Joubert syndrome 23 [RCV002201652] Chr14:58488780 [GRCh38]
Chr14:58955498 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1206C>T (p.Thr402=) single nucleotide variant Joubert syndrome 23 [RCV002123795] Chr14:58453426 [GRCh38]
Chr14:58920144 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2634+20A>G single nucleotide variant Joubert syndrome 23 [RCV002102774] Chr14:58472299 [GRCh38]
Chr14:58939017 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2505G>C (p.Leu835=) single nucleotide variant Joubert syndrome 23 [RCV002154047] Chr14:58470675 [GRCh38]
Chr14:58937393 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3894G>A (p.Arg1298=) single nucleotide variant Joubert syndrome 23 [RCV002219914] Chr14:58492179 [GRCh38]
Chr14:58958897 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3639T>G (p.Pro1213=) single nucleotide variant Joubert syndrome 23 [RCV002082384] Chr14:58488732 [GRCh38]
Chr14:58955450 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.660C>T (p.His220=) single nucleotide variant Joubert syndrome 23 [RCV002160429] Chr14:58444028 [GRCh38]
Chr14:58910746 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1389C>T single nucleotide variant Joubert syndrome 23 [RCV002159413] Chr14:58441317 [GRCh38]
Chr14:58908035 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3859-17C>T single nucleotide variant Joubert syndrome 23 [RCV002135598] Chr14:58492127 [GRCh38]
Chr14:58958845 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2634+12T>C single nucleotide variant Joubert syndrome 23 [RCV002099150] Chr14:58472291 [GRCh38]
Chr14:58939009 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2883G>A (p.Gln961=) single nucleotide variant Joubert syndrome 23 [RCV002182281] Chr14:58477180 [GRCh38]
Chr14:58943898 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1363-11T>C single nucleotide variant Joubert syndrome 23 [RCV002180962] Chr14:58457748 [GRCh38]
Chr14:58924466 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.852T>C (p.Pro284=) single nucleotide variant Joubert syndrome 23 [RCV002160481] Chr14:58448384 [GRCh38]
Chr14:58915102 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1130-7A>G single nucleotide variant Joubert syndrome 23 [RCV002204881] Chr14:58453343 [GRCh38]
Chr14:58920061 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.576G>A (p.Pro192=) single nucleotide variant Joubert syndrome 23 [RCV002135839] Chr14:58442871 [GRCh38]
Chr14:58909589 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.264A>G (p.Ser88=) single nucleotide variant Joubert syndrome 23 [RCV002142696] Chr14:58429427 [GRCh38]
Chr14:58896145 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.199+23del deletion Joubert syndrome 23 [RCV002118080] Chr14:58428482 [GRCh38]
Chr14:58895200 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3390C>T (p.Thr1130=) single nucleotide variant Joubert syndrome 23 [RCV002155571] Chr14:58487972 [GRCh38]
Chr14:58954690 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2944+24dup duplication Joubert syndrome 23 [RCV002200588] Chr14:58477256..58477257 [GRCh38]
Chr14:58943974..58943975 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1572A>G (p.Leu524=) single nucleotide variant Joubert syndrome 23 [RCV002220286] Chr14:58457968 [GRCh38]
Chr14:58924686 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3528-12T>G single nucleotide variant Joubert syndrome 23 [RCV002202825] Chr14:58488609 [GRCh38]
Chr14:58955327 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2060-17A>T single nucleotide variant Joubert syndrome 23 [RCV002141308] Chr14:58465818 [GRCh38]
Chr14:58932536 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1491G>T single nucleotide variant Joubert syndrome 23 [RCV002199584] Chr14:58441215 [GRCh38]
Chr14:58907933 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2944+13G>T single nucleotide variant Joubert syndrome 23 [RCV002183894] Chr14:58477254 [GRCh38]
Chr14:58943972 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1130-14C>G single nucleotide variant Joubert syndrome 23 [RCV002117410] Chr14:58453336 [GRCh38]
Chr14:58920054 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2536G>C (p.Val846Leu) single nucleotide variant Joubert syndrome 23 [RCV002117435] Chr14:58470706 [GRCh38]
Chr14:58937424 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2254+17T>C single nucleotide variant Joubert syndrome 23 [RCV002138712] Chr14:58466046 [GRCh38]
Chr14:58932764 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+12A>G single nucleotide variant Joubert syndrome 23 [RCV002163488] Chr14:58540148 [GRCh38]
Chr14:59006866 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2442+9G>A single nucleotide variant Joubert syndrome 23 [RCV002123353] Chr14:58467931 [GRCh38]
Chr14:58934649 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3858+7A>G single nucleotide variant Joubert syndrome 23 [RCV002181104] Chr14:58490247 [GRCh38]
Chr14:58956965 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4169-8G>C single nucleotide variant Joubert syndrome 23 [RCV002102952] Chr14:58508547 [GRCh38]
Chr14:58975265 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1476T>G single nucleotide variant Joubert syndrome 23 [RCV002176589] Chr14:58441230 [GRCh38]
Chr14:58907948 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1656+4T>C single nucleotide variant Joubert syndrome 23 [RCV002142213]|KIAA0586-related condition [RCV003903427] Chr14:58458549 [GRCh38]
Chr14:58925267 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2964C>T (p.Gly988=) single nucleotide variant Joubert syndrome 23 [RCV002101898] Chr14:58482532 [GRCh38]
Chr14:58949250 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3948C>T (p.Asn1316=) single nucleotide variant Joubert syndrome 23 [RCV002159232] Chr14:58492233 [GRCh38]
Chr14:58958951 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3849C>T (p.Ala1283=) single nucleotide variant Joubert syndrome 23 [RCV002155869] Chr14:58490231 [GRCh38]
Chr14:58956949 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1495T>C single nucleotide variant Joubert syndrome 23 [RCV002121539] Chr14:58441211 [GRCh38]
Chr14:58907929 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2295A>C (p.Gly765=) single nucleotide variant Joubert syndrome 23 [RCV002143981] Chr14:58467775 [GRCh38]
Chr14:58934493 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3097dup (p.Ala1033fs) duplication Joubert syndrome 23 [RCV003101319]|not provided [RCV002244335] Chr14:58482664..58482665 [GRCh38]
Chr14:58949382..58949383 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1583+15G>A single nucleotide variant Joubert syndrome 23 [RCV002203024] Chr14:58457994 [GRCh38]
Chr14:58924712 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.1269A>G (p.Glu423=) single nucleotide variant Joubert syndrome 23 [RCV002216401]|not provided [RCV003389893] Chr14:58456717 [GRCh38]
Chr14:58923435 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2022C>T (p.Ser674=) single nucleotide variant Joubert syndrome 23 [RCV002175272] Chr14:58461123 [GRCh38]
Chr14:58927841 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.962-14A>C single nucleotide variant Joubert syndrome 23 [RCV002197879] Chr14:58450565 [GRCh38]
Chr14:58917283 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1656+11G>A single nucleotide variant Joubert syndrome 23 [RCV002177520] Chr14:58458556 [GRCh38]
Chr14:58925274 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4185T>C (p.Asp1395=) single nucleotide variant Joubert syndrome 23 [RCV002178731] Chr14:58508571 [GRCh38]
Chr14:58975289 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1752C>G (p.Thr584=) single nucleotide variant Joubert syndrome 23 [RCV002099441] Chr14:58459938 [GRCh38]
Chr14:58926656 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3624C>T (p.Ala1208=) single nucleotide variant Joubert syndrome 23 [RCV002119190] Chr14:58488717 [GRCh38]
Chr14:58955435 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1254-7C>T single nucleotide variant Joubert syndrome 23 [RCV002101758] Chr14:58456695 [GRCh38]
Chr14:58923413 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3819T>C (p.Asn1273=) single nucleotide variant Joubert syndrome 23 [RCV002199536] Chr14:58490201 [GRCh38]
Chr14:58956919 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3304+19T>A single nucleotide variant Joubert syndrome 23 [RCV002155911] Chr14:58487185 [GRCh38]
Chr14:58953903 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1785A>T (p.Val595=) single nucleotide variant Joubert syndrome 23 [RCV002162177]|KIAA0586-related condition [RCV003892190] Chr14:58459971 [GRCh38]
Chr14:58926689 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1362+12A>G single nucleotide variant Joubert syndrome 23 [RCV002221006] Chr14:58456822 [GRCh38]
Chr14:58923540 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1365C>T single nucleotide variant Joubert syndrome 23 [RCV002101624] Chr14:58441341 [GRCh38]
Chr14:58908059 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.363G>A (p.Gln121=) single nucleotide variant Joubert syndrome 23 [RCV002143729] Chr14:58432410 [GRCh38]
Chr14:58899128 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4168+8C>A single nucleotide variant Joubert syndrome 23 [RCV002220208] Chr14:58498968 [GRCh38]
Chr14:58965686 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2032A>C (p.Arg678=) single nucleotide variant Joubert syndrome 23 [RCV002081460] Chr14:58461133 [GRCh38]
Chr14:58927851 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2736G>A (p.Pro912=) single nucleotide variant Joubert syndrome 23 [RCV002138996] Chr14:58474708 [GRCh38]
Chr14:58941426 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.340+25dup duplication Joubert syndrome 23 [RCV002118097] Chr14:58430735..58430736 [GRCh38]
Chr14:58897453..58897454 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.729C>T (p.His243=) single nucleotide variant Joubert syndrome 23 [RCV002180849] Chr14:58444097 [GRCh38]
Chr14:58910815 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.340+7G>T single nucleotide variant Joubert syndrome 23 [RCV002159620]|KIAA0586-related condition [RCV003941288] Chr14:58430724 [GRCh38]
Chr14:58897442 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.891C>T (p.Ser297=) single nucleotide variant Joubert syndrome 23 [RCV002220797] Chr14:58448423 [GRCh38]
Chr14:58915141 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.245T>C (p.Leu82Ser) single nucleotide variant Joubert syndrome 23 [RCV003094183]|not provided [RCV002255018] Chr14:58429408 [GRCh38]
Chr14:58896126 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3532A>G (p.Met1178Val) single nucleotide variant not provided [RCV002267266] Chr14:58488625 [GRCh38]
Chr14:58955343 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.496A>G (p.Thr166Ala) single nucleotide variant not provided [RCV002262441] Chr14:58442791 [GRCh38]
Chr14:58909509 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1322A>G (p.Asp441Gly) single nucleotide variant not provided [RCV002272068] Chr14:58456770 [GRCh38]
Chr14:58923488 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.*32C>A single nucleotide variant not provided [RCV002274603] Chr14:58547964 [GRCh38]
Chr14:59014682 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001244189.2(KIAA0586):c.1A>G (p.Met1Val) single nucleotide variant not specified [RCV002266325] Chr14:58427629 [GRCh38]
Chr14:58894347 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3418A>G (p.Lys1140Glu) single nucleotide variant Joubert syndrome 23 [RCV002297582] Chr14:58488000 [GRCh38]
Chr14:58954718 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2480G>A (p.Ser827Asn) single nucleotide variant Joubert syndrome 23 [RCV002297192] Chr14:58470650 [GRCh38]
Chr14:58937368 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2936C>T (p.Ser979Phe) single nucleotide variant Joubert syndrome 23 [RCV002297570] Chr14:58477233 [GRCh38]
Chr14:58943951 [GRCh37]
Chr14:14q23.1		 uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33		 pathogenic
NM_001329943.3(KIAA0586):c.1182A>C (p.Arg394Ser) single nucleotide variant Joubert syndrome 23 [RCV002297526] Chr14:58453402 [GRCh38]
Chr14:58920120 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2860G>T (p.Gly954Trp) single nucleotide variant Joubert syndrome 23 [RCV002296964] Chr14:58477157 [GRCh38]
Chr14:58943875 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2990G>T (p.Gly997Val) single nucleotide variant Joubert syndrome 23 [RCV002297390] Chr14:58482558 [GRCh38]
Chr14:58949276 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2449C>G (p.Pro817Ala) single nucleotide variant Joubert syndrome 23 [RCV003098038]|not provided [RCV002306057] Chr14:58470619 [GRCh38]
Chr14:58937337 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1096G>A (p.Glu366Lys) single nucleotide variant Joubert syndrome 23 [RCV002301546] Chr14:58450713 [GRCh38]
Chr14:58917431 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.701A>G (p.Lys234Arg) single nucleotide variant Joubert syndrome 23 [RCV002301194] Chr14:58444069 [GRCh38]
Chr14:58910787 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4596T>C (p.Ser1532=) single nucleotide variant Joubert syndrome 23 [RCV002298213] Chr14:58547881 [GRCh38]
Chr14:59014599 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2348C>T (p.Ser783Leu) single nucleotide variant Joubert syndrome 23 [RCV002295514] Chr14:58467828 [GRCh38]
Chr14:58934546 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2839A>G (p.Ile947Val) single nucleotide variant Joubert syndrome 23 [RCV002299187] Chr14:58477136 [GRCh38]
Chr14:58943854 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.931T>A (p.Ser311Thr) single nucleotide variant not provided [RCV002306006] Chr14:58448463 [GRCh38]
Chr14:58915181 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1538A>G (p.Asp513Gly) single nucleotide variant Joubert syndrome 23 [RCV002299320] Chr14:58457934 [GRCh38]
Chr14:58924652 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1903A>G (p.Thr635Ala) single nucleotide variant Joubert syndrome 23 [RCV003098037]|not provided [RCV002306056] Chr14:58461004 [GRCh38]
Chr14:58927722 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001244189.1(KIAA0586):c.2602_2612del11 deletion Joubert syndrome and related disorders [RCV002308623] Chr14:58470611..58470621 [GRCh38]
Chr14:58937329..58937339 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3947A>C (p.Asn1316Thr) single nucleotide variant Inborn genetic diseases [RCV003164734]|not provided [RCV002469889] Chr14:58492232 [GRCh38]
Chr14:58958950 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4028A>G (p.Gln1343Arg) single nucleotide variant Joubert syndrome 23 [RCV003103147]|not provided [RCV002462732] Chr14:58498820 [GRCh38]
Chr14:58965538 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1656+17A>T single nucleotide variant Joubert syndrome 23 [RCV002771161] Chr14:58458562 [GRCh38]
Chr14:58925280 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4641del (p.Phe1548fs) deletion Joubert syndrome 23 [RCV002858042] Chr14:58547925 [GRCh38]
Chr14:59014643 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.585+17_585+29del deletion Joubert syndrome 23 [RCV002837901] Chr14:58442896..58442908 [GRCh38]
Chr14:58909614..58909626 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3144+20C>T single nucleotide variant Joubert syndrome 23 [RCV002613641] Chr14:58482732 [GRCh38]
Chr14:58949450 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4496-17G>A single nucleotide variant Joubert syndrome 23 [RCV002991853] Chr14:58547764 [GRCh38]
Chr14:59014482 [GRCh37]
Chr14:14q23.1		 likely benign
GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1 copy number loss not provided [RCV002472446] Chr14:57804997..63590203 [GRCh37]
Chr14:14q22.3-23.2		 likely pathogenic
NM_001329943.3(KIAA0586):c.340+13T>G single nucleotide variant Joubert syndrome 23 [RCV003012189] Chr14:58430730 [GRCh38]
Chr14:58897448 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4231G>A (p.Glu1411Lys) single nucleotide variant Joubert syndrome 23 [RCV002681714] Chr14:58508617 [GRCh38]
Chr14:58975335 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1656+12A>G single nucleotide variant Joubert syndrome 23 [RCV002991356] Chr14:58458557 [GRCh38]
Chr14:58925275 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4444A>G (p.Met1482Val) single nucleotide variant Joubert syndrome 23 [RCV002968093] Chr14:58540085 [GRCh38]
Chr14:59006803 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.125G>A (p.Cys42Tyr) single nucleotide variant Joubert syndrome 23 [RCV002903144] Chr14:58428389 [GRCh38]
Chr14:58895107 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4435C>T (p.Pro1479Ser) single nucleotide variant Joubert syndrome 23 [RCV002727192] Chr14:58540076 [GRCh38]
Chr14:59006794 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4033C>A (p.Pro1345Thr) single nucleotide variant Joubert syndrome 23 [RCV002839357] Chr14:58498825 [GRCh38]
Chr14:58965543 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3190T>A (p.Cys1064Ser) single nucleotide variant Joubert syndrome 23 [RCV002685687] Chr14:58487052 [GRCh38]
Chr14:58953770 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1799A>C (p.His600Pro) single nucleotide variant Joubert syndrome 23 [RCV002815532] Chr14:58459985 [GRCh38]
Chr14:58926703 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1253+19A>C single nucleotide variant Joubert syndrome 23 [RCV002615889] Chr14:58453492 [GRCh38]
Chr14:58920210 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2944+16T>A single nucleotide variant Joubert syndrome 23 [RCV003073721] Chr14:58477257 [GRCh38]
Chr14:58943975 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3704C>T (p.Thr1235Ile) single nucleotide variant Joubert syndrome 23 [RCV002775384] Chr14:58488797 [GRCh38]
Chr14:58955515 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2822A>G (p.Gln941Arg) single nucleotide variant Joubert syndrome 23 [RCV002303083] Chr14:58474794 [GRCh38]
Chr14:58941512 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1424A>T (p.Gln475Leu) single nucleotide variant Joubert syndrome 23 [RCV002993926] Chr14:58457820 [GRCh38]
Chr14:58924538 [GRCh37]
Chr14:14q23.1		 uncertain significance
GRCh37/hg19 14q23.1(chr14:58833909-59109480)x3 copy number gain not provided [RCV002474852] Chr14:58833909..59109480 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.586-16G>T single nucleotide variant Joubert syndrome 23 [RCV002971271] Chr14:58443938 [GRCh38]
Chr14:58910656 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2437G>A (p.Val813Met) single nucleotide variant Joubert syndrome 23 [RCV003014166] Chr14:58467917 [GRCh38]
Chr14:58934635 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.362A>T (p.Gln121Leu) single nucleotide variant Joubert syndrome 23 [RCV002815706] Chr14:58432409 [GRCh38]
Chr14:58899127 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.382G>C (p.Asp128His) single nucleotide variant not provided [RCV002469929] Chr14:58432429 [GRCh38]
Chr14:58899147 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.62T>A (p.Leu21His) single nucleotide variant Joubert syndrome 23 [RCV003035284] Chr14:58428326 [GRCh38]
Chr14:58895044 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2708C>A (p.Ser903Tyr) single nucleotide variant Joubert syndrome 23 [RCV002996544] Chr14:58474680 [GRCh38]
Chr14:58941398 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1133A>T (p.Asn378Ile) single nucleotide variant Joubert syndrome 23 [RCV003017212] Chr14:58453353 [GRCh38]
Chr14:58920071 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3669A>G (p.Ser1223=) single nucleotide variant Joubert syndrome 23 [RCV002617815] Chr14:58488762 [GRCh38]
Chr14:58955480 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1320T>C (p.His440=) single nucleotide variant Joubert syndrome 23 [RCV002819987] Chr14:58456768 [GRCh38]
Chr14:58923486 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2800del (p.Thr934fs) deletion Joubert syndrome 23 [RCV002843843] Chr14:58474770 [GRCh38]
Chr14:58941488 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.341-2A>G single nucleotide variant Joubert syndrome 23 [RCV002690504] Chr14:58432386 [GRCh38]
Chr14:58899104 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.12dup (p.Glu5Ter) duplication Joubert syndrome 23 [RCV002996241] Chr14:58428275..58428276 [GRCh38]
Chr14:58894993..58894994 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4111T>A (p.Ser1371Thr) single nucleotide variant Joubert syndrome 23 [RCV002907682] Chr14:58498903 [GRCh38]
Chr14:58965621 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2435C>A (p.Thr812Asn) single nucleotide variant Joubert syndrome 23 [RCV002795125] Chr14:58467915 [GRCh38]
Chr14:58934633 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2443-14G>A single nucleotide variant Joubert syndrome 23 [RCV003076244] Chr14:58470599 [GRCh38]
Chr14:58937317 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.962-19A>T single nucleotide variant Joubert syndrome 23 [RCV002819154] Chr14:58450560 [GRCh38]
Chr14:58917278 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1364A>G single nucleotide variant Joubert syndrome 23 [RCV002842327] Chr14:58441342 [GRCh38]
Chr14:58908060 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2554-4T>G single nucleotide variant Joubert syndrome 23 [RCV003015922] Chr14:58472195 [GRCh38]
Chr14:58938913 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.86A>G (p.His29Arg) single nucleotide variant Joubert syndrome 23 [RCV003074971] Chr14:58428350 [GRCh38]
Chr14:58895068 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1130G>A (p.Gly377Glu) single nucleotide variant Joubert syndrome 23 [RCV003095726] Chr14:58453350 [GRCh38]
Chr14:58920068 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4644C>G (p.Phe1548Leu) single nucleotide variant Joubert syndrome 23 [RCV003075499] Chr14:58547929 [GRCh38]
Chr14:59014647 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3940A>G (p.Lys1314Glu) single nucleotide variant Joubert syndrome 23 [RCV002995091] Chr14:58492225 [GRCh38]
Chr14:58958943 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2598A>G (p.Pro866=) single nucleotide variant Joubert syndrome 23 [RCV003016000] Chr14:58472243 [GRCh38]
Chr14:58938961 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4585C>T (p.Gln1529Ter) single nucleotide variant Joubert syndrome 23 [RCV002995695] Chr14:58547870 [GRCh38]
Chr14:59014588 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2207T>A (p.Phe736Tyr) single nucleotide variant Joubert syndrome 23 [RCV002842145] Chr14:58465982 [GRCh38]
Chr14:58932700 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.447A>G (p.Val149=) single nucleotide variant Joubert syndrome 23 [RCV002616269] Chr14:58442742 [GRCh38]
Chr14:58909460 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1810C>G (p.Gln604Glu) single nucleotide variant Joubert syndrome 23 [RCV003076675] Chr14:58459996 [GRCh38]
Chr14:58926714 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2630T>C (p.Ile877Thr) single nucleotide variant Joubert syndrome 23 [RCV002863415] Chr14:58472275 [GRCh38]
Chr14:58938993 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-1347C>T single nucleotide variant Joubert syndrome 23 [RCV002904936] Chr14:58441359 [GRCh38]
Chr14:58908077 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3577G>A (p.Ala1193Thr) single nucleotide variant Inborn genetic diseases [RCV002841697] Chr14:58488670 [GRCh38]
Chr14:58955388 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3544A>G (p.Lys1182Glu) single nucleotide variant Joubert syndrome 23 [RCV002686335] Chr14:58488637 [GRCh38]
Chr14:58955355 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3782-18T>A single nucleotide variant Joubert syndrome 23 [RCV003033747] Chr14:58490146 [GRCh38]
Chr14:58956864 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.410+3A>G single nucleotide variant Joubert syndrome 23 [RCV002730612] Chr14:58432460 [GRCh38]
Chr14:58899178 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2060-19C>T single nucleotide variant Joubert syndrome 23 [RCV002843745] Chr14:58465816 [GRCh38]
Chr14:58932534 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1651A>G (p.Ile551Val) single nucleotide variant Joubert syndrome 23 [RCV002755065] Chr14:58458540 [GRCh38]
Chr14:58925258 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2945-1G>C single nucleotide variant Joubert syndrome 23 [RCV002512459] Chr14:58482512 [GRCh38]
Chr14:58949230 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.270+7A>C single nucleotide variant Joubert syndrome 23 [RCV003017657] Chr14:58429440 [GRCh38]
Chr14:58896158 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2960G>A (p.Ser987Asn) single nucleotide variant Joubert syndrome 23 [RCV003015788] Chr14:58482528 [GRCh38]
Chr14:58949246 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1569T>C (p.Ala523=) single nucleotide variant Joubert syndrome 23 [RCV002881713] Chr14:58457965 [GRCh38]
Chr14:58924683 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.576G>T (p.Pro192=) single nucleotide variant Joubert syndrome 23 [RCV002863728] Chr14:58442871 [GRCh38]
Chr14:58909589 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1349C>T single nucleotide variant Joubert syndrome 23 [RCV002908472] Chr14:58441357 [GRCh38]
Chr14:58908075 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.171G>T (p.Thr57=) single nucleotide variant Joubert syndrome 23 [RCV002995310] Chr14:58428435 [GRCh38]
Chr14:58895153 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.-28G>A single nucleotide variant Joubert syndrome 23 [RCV003016004] Chr14:58428237 [GRCh38]
Chr14:58894955 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.197G>A (p.Arg66His) single nucleotide variant Inborn genetic diseases [RCV002818209] Chr14:58428461 [GRCh38]
Chr14:58895179 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2729C>T (p.Pro910Leu) single nucleotide variant Joubert syndrome 23 [RCV003016919] Chr14:58474701 [GRCh38]
Chr14:58941419 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2443-18T>C single nucleotide variant Joubert syndrome 23 [RCV002908593] Chr14:58470595 [GRCh38]
Chr14:58937313 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3850G>A (p.Val1284Ile) single nucleotide variant Joubert syndrome 23 [RCV002882196] Chr14:58490232 [GRCh38]
Chr14:58956950 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3859-16T>A single nucleotide variant Joubert syndrome 23 [RCV002863718] Chr14:58492128 [GRCh38]
Chr14:58958846 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3077C>T (p.Ala1026Val) single nucleotide variant Joubert syndrome 23 [RCV002882195] Chr14:58482645 [GRCh38]
Chr14:58949363 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3500C>T (p.Pro1167Leu) single nucleotide variant Joubert syndrome 23 [RCV002617964] Chr14:58488082 [GRCh38]
Chr14:58954800 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1743dup (p.Ile582fs) duplication Joubert syndrome 23 [RCV002775584] Chr14:58459928..58459929 [GRCh38]
Chr14:58926646..58926647 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.869C>G (p.Ser290Cys) single nucleotide variant Inborn genetic diseases [RCV003007343]|Joubert syndrome 23 [RCV002996555] Chr14:58448401 [GRCh38]
Chr14:58915119 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2443-19A>G single nucleotide variant Joubert syndrome 23 [RCV003017207] Chr14:58470594 [GRCh38]
Chr14:58937312 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1455_411-1454insGG insertion Joubert syndrome 23 [RCV002731319] Chr14:58441251..58441252 [GRCh38]
Chr14:58907969..58907970 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1578C>T (p.Thr526=) single nucleotide variant Joubert syndrome 23 [RCV002620278] Chr14:58457974 [GRCh38]
Chr14:58924692 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3490C>T (p.Pro1164Ser) single nucleotide variant Joubert syndrome 23 [RCV002886708] Chr14:58488072 [GRCh38]
Chr14:58954790 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.261G>T (p.Val87=) single nucleotide variant Joubert syndrome 23 [RCV002999882] Chr14:58429424 [GRCh38]
Chr14:58896142 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3461A>T (p.Asp1154Val) single nucleotide variant Joubert syndrome 23 [RCV002705929] Chr14:58488043 [GRCh38]
Chr14:58954761 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4323+3A>G single nucleotide variant Joubert syndrome 23 [RCV002569638] Chr14:58508712 [GRCh38]
Chr14:58975430 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1583+17A>G single nucleotide variant Joubert syndrome 23 [RCV002638596] Chr14:58457996 [GRCh38]
Chr14:58924714 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4208_4209del (p.Met1403fs) deletion Joubert syndrome 23 [RCV003078519] Chr14:58508594..58508595 [GRCh38]
Chr14:58975312..58975313 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.167G>A (p.Gly56Glu) single nucleotide variant Joubert syndrome 23 [RCV002923974] Chr14:58428431 [GRCh38]
Chr14:58895149 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.135G>C (p.Pro45=) single nucleotide variant Joubert syndrome 23 [RCV002780803] Chr14:58428399 [GRCh38]
Chr14:58895117 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.199+15G>A single nucleotide variant Joubert syndrome 23 [RCV003078264] Chr14:58428478 [GRCh38]
Chr14:58895196 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2650G>A (p.Asp884Asn) single nucleotide variant Joubert syndrome 23 [RCV002659551] Chr14:58474622 [GRCh38]
Chr14:58941340 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2553+20C>A single nucleotide variant Joubert syndrome 23 [RCV002976516] Chr14:58470743 [GRCh38]
Chr14:58937461 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.768G>T (p.Arg256Ser) single nucleotide variant Inborn genetic diseases [RCV002637762]|Joubert syndrome 23 [RCV002637761] Chr14:58444136 [GRCh38]
Chr14:58910854 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4350dup (p.Lys1451Ter) duplication Joubert syndrome 23 [RCV002867620] Chr14:58512546..58512547 [GRCh38]
Chr14:58979264..58979265 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4168+5A>G single nucleotide variant Inborn genetic diseases [RCV002692253]|Joubert syndrome 23 [RCV003777660] Chr14:58498965 [GRCh38]
Chr14:58965683 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1506A>G (p.Glu502=) single nucleotide variant Joubert syndrome 23 [RCV002976492] Chr14:58457902 [GRCh38]
Chr14:58924620 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4205C>A (p.Pro1402Gln) single nucleotide variant Joubert syndrome 23 [RCV003078518] Chr14:58508591 [GRCh38]
Chr14:58975309 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3564T>C (p.Ser1188=) single nucleotide variant Joubert syndrome 23 [RCV003078626] Chr14:58488657 [GRCh38]
Chr14:58955375 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.335A>G (p.Gln112Arg) single nucleotide variant Joubert syndrome 23 [RCV002658575] Chr14:58430712 [GRCh38]
Chr14:58897430 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.336A>G (p.Gln112=) single nucleotide variant Joubert syndrome 23 [RCV002820278] Chr14:58430713 [GRCh38]
Chr14:58897431 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.65G>C (p.Arg22Pro) single nucleotide variant Joubert syndrome 23 [RCV002820688] Chr14:58428329 [GRCh38]
Chr14:58895047 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1892dup (p.Leu631fs) duplication Joubert syndrome 23 [RCV003036178] Chr14:58460989..58460990 [GRCh38]
Chr14:58927707..58927708 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1225A>G (p.Ile409Val) single nucleotide variant Joubert syndrome 23 [RCV002948868] Chr14:58453445 [GRCh38]
Chr14:58920163 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2059+20A>G single nucleotide variant Joubert syndrome 23 [RCV003079100] Chr14:58461180 [GRCh38]
Chr14:58927898 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2847A>C (p.Ser949=) single nucleotide variant Joubert syndrome 23 [RCV002823814] Chr14:58477144 [GRCh38]
Chr14:58943862 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.-37C>G single nucleotide variant Joubert syndrome 23 [RCV002735523] Chr14:58428228 [GRCh38]
Chr14:58894946 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4420C>T (p.Gln1474Ter) single nucleotide variant Joubert syndrome 23 [RCV002868034] Chr14:58512618 [GRCh38]
Chr14:58979336 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.411-1405T>C single nucleotide variant Joubert syndrome 23 [RCV002797168] Chr14:58441301 [GRCh38]
Chr14:58908019 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2976T>G (p.Leu992=) single nucleotide variant Joubert syndrome 23 [RCV002867496] Chr14:58482544 [GRCh38]
Chr14:58949262 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3211A>T (p.Lys1071Ter) single nucleotide variant Joubert syndrome 23 [RCV002820645] Chr14:58487073 [GRCh38]
Chr14:58953791 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001244189.2(KIAA0586):c.9+5G>C single nucleotide variant Joubert syndrome 23 [RCV002796015] Chr14:58427642 [GRCh38]
Chr14:58894360 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2060-16T>C single nucleotide variant Joubert syndrome 23 [RCV002885710] Chr14:58465819 [GRCh38]
Chr14:58932537 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2885T>C (p.Ile962Thr) single nucleotide variant Joubert syndrome 23 [RCV003078261] Chr14:58477182 [GRCh38]
Chr14:58943900 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3018A>G (p.Lys1006=) single nucleotide variant Joubert syndrome 23 [RCV003100459] Chr14:58482586 [GRCh38]
Chr14:58949304 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3685A>C (p.Thr1229Pro) single nucleotide variant Joubert syndrome 23 [RCV002886338] Chr14:58488778 [GRCh38]
Chr14:58955496 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.850C>T (p.Pro284Ser) single nucleotide variant Inborn genetic diseases [RCV002737266] Chr14:58448382 [GRCh38]
Chr14:58915100 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2254+20G>T single nucleotide variant Joubert syndrome 23 [RCV003077384] Chr14:58466049 [GRCh38]
Chr14:58932767 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.-2A>G single nucleotide variant Joubert syndrome 23 [RCV002795399] Chr14:58428263 [GRCh38]
Chr14:58894981 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4323+12A>G single nucleotide variant Joubert syndrome 23 [RCV003020022] Chr14:58508721 [GRCh38]
Chr14:58975439 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3433A>T (p.Ser1145Cys) single nucleotide variant Joubert syndrome 23 [RCV003020045] Chr14:58488015 [GRCh38]
Chr14:58954733 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2758C>G (p.Pro920Ala) single nucleotide variant Joubert syndrome 23 [RCV002591497] Chr14:58474730 [GRCh38]
Chr14:58941448 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2749A>G (p.Thr917Ala) single nucleotide variant Joubert syndrome 23 [RCV003079806] Chr14:58474721 [GRCh38]
Chr14:58941439 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2945-4T>C single nucleotide variant Joubert syndrome 23 [RCV003078429] Chr14:58482509 [GRCh38]
Chr14:58949227 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4275A>G (p.Ala1425=) single nucleotide variant Joubert syndrome 23 [RCV002923835] Chr14:58508661 [GRCh38]
Chr14:58975379 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3351C>A (p.Thr1117=) single nucleotide variant Joubert syndrome 23 [RCV002928639] Chr14:58487933 [GRCh38]
Chr14:58954651 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.-20C>T single nucleotide variant Joubert syndrome 23 [RCV002982480] Chr14:58428245 [GRCh38]
Chr14:58894963 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4054G>A (p.Glu1352Lys) single nucleotide variant Joubert syndrome 23 [RCV003039721] Chr14:58498846 [GRCh38]
Chr14:58965564 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1745T>G (p.Ile582Ser) single nucleotide variant Joubert syndrome 23 [RCV002953763] Chr14:58459931 [GRCh38]
Chr14:58926649 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3968A>G (p.Gln1323Arg) single nucleotide variant Joubert syndrome 23 [RCV002663545] Chr14:58492253 [GRCh38]
Chr14:58958971 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.605C>T (p.Ala202Val) single nucleotide variant Joubert syndrome 23 [RCV003039888] Chr14:58443973 [GRCh38]
Chr14:58910691 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2622C>G (p.Ile874Met) single nucleotide variant Joubert syndrome 23 [RCV002571859] Chr14:58472267 [GRCh38]
Chr14:58938985 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3305-3T>C single nucleotide variant Joubert syndrome 23 [RCV002696336] Chr14:58487884 [GRCh38]
Chr14:58954602 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3151G>C (p.Val1051Leu) single nucleotide variant Inborn genetic diseases [RCV003001611] Chr14:58487013 [GRCh38]
Chr14:58953731 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3805C>A (p.Leu1269Met) single nucleotide variant Inborn genetic diseases [RCV002707325] Chr14:58490187 [GRCh38]
Chr14:58956905 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1870A>G (p.Lys624Glu) single nucleotide variant Joubert syndrome 23 [RCV002706194] Chr14:58460056 [GRCh38]
Chr14:58926774 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3562A>T (p.Ser1188Cys) single nucleotide variant Joubert syndrome 23 [RCV002592092] Chr14:58488655 [GRCh38]
Chr14:58955373 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2554-14A>G single nucleotide variant Joubert syndrome 23 [RCV002824218] Chr14:58472185 [GRCh38]
Chr14:58938903 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.33A>T (p.Lys11Asn) single nucleotide variant Joubert syndrome 23 [RCV003054498] Chr14:58428297 [GRCh38]
Chr14:58895015 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3144+7G>A single nucleotide variant Joubert syndrome 23 [RCV003002477] Chr14:58482719 [GRCh38]
Chr14:58949437 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+3737T>G single nucleotide variant Joubert syndrome 23 [RCV002640446] Chr14:58543873 [GRCh38]
Chr14:59010591 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2060G>T (p.Gly687Val) single nucleotide variant Joubert syndrome 23 [RCV002926589] Chr14:58465835 [GRCh38]
Chr14:58932553 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2944+13G>A single nucleotide variant Joubert syndrome 23 [RCV003020342] Chr14:58477254 [GRCh38]
Chr14:58943972 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.272A>G (p.Asp91Gly) single nucleotide variant Joubert syndrome 23 [RCV002740053] Chr14:58430649 [GRCh38]
Chr14:58897367 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+3762T>C single nucleotide variant Joubert syndrome 23 [RCV003020501] Chr14:58543898 [GRCh38]
Chr14:59010616 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1999T>C (p.Phe667Leu) single nucleotide variant Joubert syndrome 23 [RCV002823886] Chr14:58461100 [GRCh38]
Chr14:58927818 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3405T>G (p.Asp1135Glu) single nucleotide variant Joubert syndrome 23 [RCV002982354] Chr14:58487987 [GRCh38]
Chr14:58954705 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1974T>C (p.Thr658=) single nucleotide variant Joubert syndrome 23 [RCV002622498] Chr14:58461075 [GRCh38]
Chr14:58927793 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1656+19C>A single nucleotide variant Joubert syndrome 23 [RCV002663636] Chr14:58458564 [GRCh38]
Chr14:58925282 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3527+17T>C single nucleotide variant Joubert syndrome 23 [RCV003039344] Chr14:58488126 [GRCh38]
Chr14:58954844 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.253C>T (p.Pro85Ser) single nucleotide variant Joubert syndrome 23 [RCV002825689] Chr14:58429416 [GRCh38]
Chr14:58896134 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.653_663del (p.Asp218fs) deletion Joubert syndrome 23 [RCV002570315] Chr14:58444018..58444028 [GRCh38]
Chr14:58910736..58910746 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1576A>T (p.Thr526Ser) single nucleotide variant Joubert syndrome 23 [RCV003054611] Chr14:58457972 [GRCh38]
Chr14:58924690 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3561G>A (p.Glu1187=) single nucleotide variant Joubert syndrome 23 [RCV002953893] Chr14:58488654 [GRCh38]
Chr14:58955372 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2553+6T>C single nucleotide variant Joubert syndrome 23 [RCV003021971] Chr14:58470729 [GRCh38]
Chr14:58937447 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2481T>C (p.Ser827=) single nucleotide variant Joubert syndrome 23 [RCV002825445] Chr14:58470651 [GRCh38]
Chr14:58937369 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.-31T>G single nucleotide variant Joubert syndrome 23 [RCV003022370]|KIAA0586-related condition [RCV003953820] Chr14:58428234 [GRCh38]
Chr14:58894952 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+7T>C single nucleotide variant Joubert syndrome 23 [RCV003002839] Chr14:58540143 [GRCh38]
Chr14:59006861 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2270A>G (p.Asn757Ser) single nucleotide variant Inborn genetic diseases [RCV003269375]|Joubert syndrome 23 [RCV002979687] Chr14:58467750 [GRCh38]
Chr14:58934468 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2105C>T (p.Thr702Ile) single nucleotide variant Joubert syndrome 23 [RCV002914906] Chr14:58465880 [GRCh38]
Chr14:58932598 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4429+17T>C single nucleotide variant Joubert syndrome 23 [RCV002824922] Chr14:58512644 [GRCh38]
Chr14:58979362 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2442+15A>C single nucleotide variant Joubert syndrome 23 [RCV002953732] Chr14:58467937 [GRCh38]
Chr14:58934655 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3394A>G (p.Thr1132Ala) single nucleotide variant Joubert syndrome 23 [RCV003022250] Chr14:58487976 [GRCh38]
Chr14:58954694 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.857G>A (p.Ser286Asn) single nucleotide variant Joubert syndrome 23 [RCV002663092] Chr14:58448389 [GRCh38]
Chr14:58915107 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2944+17T>G single nucleotide variant Joubert syndrome 23 [RCV002953766] Chr14:58477258 [GRCh38]
Chr14:58943976 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1133A>G (p.Asn378Ser) single nucleotide variant Joubert syndrome 23 [RCV002786419] Chr14:58453353 [GRCh38]
Chr14:58920071 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-1355C>T single nucleotide variant Joubert syndrome 23 [RCV002890195] Chr14:58441351 [GRCh38]
Chr14:58908069 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3858+9C>T single nucleotide variant Joubert syndrome 23 [RCV002786430] Chr14:58490249 [GRCh38]
Chr14:58956967 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1427A>G single nucleotide variant Joubert syndrome 23 [RCV002592403] Chr14:58441279 [GRCh38]
Chr14:58907997 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4048G>A (p.Ala1350Thr) single nucleotide variant Joubert syndrome 23 [RCV002761536] Chr14:58498840 [GRCh38]
Chr14:58965558 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4321C>T (p.Gln1441Ter) single nucleotide variant Joubert syndrome 23 [RCV002871042] Chr14:58508707 [GRCh38]
Chr14:58975425 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4399A>C (p.Lys1467Gln) single nucleotide variant Joubert syndrome 23 [RCV002851388] Chr14:58512597 [GRCh38]
Chr14:58979315 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4496G>T (p.Gly1499Val) single nucleotide variant Joubert syndrome 23 [RCV003058126] Chr14:58547781 [GRCh38]
Chr14:59014499 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.567C>T (p.Thr189=) single nucleotide variant Joubert syndrome 23 [RCV003041187] Chr14:58442862 [GRCh38]
Chr14:58909580 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2227C>T (p.His743Tyr) single nucleotide variant Inborn genetic diseases [RCV002803925] Chr14:58466002 [GRCh38]
Chr14:58932720 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3305-18_3305-17insA insertion Joubert syndrome 23 [RCV002644049] Chr14:58487869..58487870 [GRCh38]
Chr14:58954587..58954588 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3145-6_3145-2del deletion Joubert syndrome 23 [RCV002575026] Chr14:58486997..58487001 [GRCh38]
Chr14:58953715..58953719 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4496-3803T>G single nucleotide variant Joubert syndrome 23 [RCV003042386] Chr14:58543978 [GRCh38]
Chr14:59010696 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2388A>G (p.Ile796Met) single nucleotide variant Joubert syndrome 23 [RCV003057993] Chr14:58467868 [GRCh38]
Chr14:58934586 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2131A>G (p.Met711Val) single nucleotide variant Joubert syndrome 23 [RCV002957785] Chr14:58465906 [GRCh38]
Chr14:58932624 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1130-12C>T single nucleotide variant Joubert syndrome 23 [RCV002711042] Chr14:58453338 [GRCh38]
Chr14:58920056 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1284T>C (p.Thr428=) single nucleotide variant Joubert syndrome 23 [RCV002711836] Chr14:58456732 [GRCh38]
Chr14:58923450 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001244189.2(KIAA0586):c.9+16C>T single nucleotide variant Joubert syndrome 23 [RCV002711769] Chr14:58427653 [GRCh38]
Chr14:58894371 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3772G>T (p.Ala1258Ser) single nucleotide variant not provided [RCV002508748] Chr14:58488865 [GRCh38]
Chr14:58955583 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1940A>G (p.Tyr647Cys) single nucleotide variant Inborn genetic diseases [RCV002930276] Chr14:58461041 [GRCh38]
Chr14:58927759 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-1494C>A single nucleotide variant Joubert syndrome 23 [RCV002982869] Chr14:58441212 [GRCh38]
Chr14:58907930 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3341dup (p.Thr1115fs) duplication Joubert syndrome 23 [RCV003082774] Chr14:58487921..58487922 [GRCh38]
Chr14:58954639..58954640 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.85C>T (p.His29Tyr) single nucleotide variant Joubert syndrome 23 [RCV003040752] Chr14:58428349 [GRCh38]
Chr14:58895067 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4148G>A (p.Arg1383Gln) single nucleotide variant Joubert syndrome 23 [RCV002928917] Chr14:58498940 [GRCh38]
Chr14:58965658 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.444G>T (p.Lys148Asn) single nucleotide variant Joubert syndrome 23 [RCV002741605] Chr14:58442739 [GRCh38]
Chr14:58909457 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1099A>C (p.Lys367Gln) single nucleotide variant Joubert syndrome 23 [RCV002623989] Chr14:58450716 [GRCh38]
Chr14:58917434 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1130-18A>G single nucleotide variant Joubert syndrome 23 [RCV002595056] Chr14:58453332 [GRCh38]
Chr14:58920050 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3673A>G (p.Thr1225Ala) single nucleotide variant Joubert syndrome 23 [RCV003023168] Chr14:58488766 [GRCh38]
Chr14:58955484 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.853G>C (p.Val285Leu) single nucleotide variant Joubert syndrome 23 [RCV003040990] Chr14:58448385 [GRCh38]
Chr14:58915103 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2704G>C (p.Asp902His) single nucleotide variant Inborn genetic diseases [RCV002955306] Chr14:58474676 [GRCh38]
Chr14:58941394 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.807+19G>C single nucleotide variant Joubert syndrome 23 [RCV002828088] Chr14:58444194 [GRCh38]
Chr14:58910912 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-4A>G single nucleotide variant Joubert syndrome 23 [RCV002801239] Chr14:58442702 [GRCh38]
Chr14:58909420 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2634+5C>G single nucleotide variant Joubert syndrome 23 [RCV003057470] Chr14:58472284 [GRCh38]
Chr14:58939002 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-1431C>G single nucleotide variant Joubert syndrome 23 [RCV002829139] Chr14:58441275 [GRCh38]
Chr14:58907993 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3037C>G (p.Leu1013Val) single nucleotide variant Joubert syndrome 23 [RCV002890949] Chr14:58482605 [GRCh38]
Chr14:58949323 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.-4C>G single nucleotide variant Joubert syndrome 23 [RCV002710403] Chr14:58428261 [GRCh38]
Chr14:58894979 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2320G>C (p.Val774Leu) single nucleotide variant not provided [RCV002508381] Chr14:58467800 [GRCh38]
Chr14:58934518 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3438A>G (p.Pro1146=) single nucleotide variant Joubert syndrome 23 [RCV002711320] Chr14:58488020 [GRCh38]
Chr14:58954738 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4377_4378del (p.Ser1460fs) deletion Joubert syndrome 23 [RCV003005287]|not provided [RCV003134586] Chr14:58512574..58512575 [GRCh38]
Chr14:58979292..58979293 [GRCh37]
Chr14:14q23.1		 pathogenic|uncertain significance
NM_001329943.3(KIAA0586):c.3566T>C (p.Met1189Thr) single nucleotide variant Joubert syndrome 23 [RCV002982921] Chr14:58488659 [GRCh38]
Chr14:58955377 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1193del (p.Ser398fs) deletion Joubert syndrome 23 [RCV003006373] Chr14:58453413 [GRCh38]
Chr14:58920131 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1501C>T (p.Leu501Phe) single nucleotide variant Joubert syndrome 23 [RCV003083908] Chr14:58457897 [GRCh38]
Chr14:58924615 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3145-12T>C single nucleotide variant Joubert syndrome 23 [RCV002828229] Chr14:58486995 [GRCh38]
Chr14:58953713 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1573T>C (p.Ser525Pro) single nucleotide variant Joubert syndrome 23 [RCV002741247] Chr14:58457969 [GRCh38]
Chr14:58924687 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4306G>A (p.Ala1436Thr) single nucleotide variant Joubert syndrome 23 [RCV003056920] Chr14:58508692 [GRCh38]
Chr14:58975410 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3886G>A (p.Val1296Met) single nucleotide variant Joubert syndrome 23 [RCV002664265] Chr14:58492171 [GRCh38]
Chr14:58958889 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4333A>G (p.Lys1445Glu) single nucleotide variant Inborn genetic diseases [RCV002929823] Chr14:58512531 [GRCh38]
Chr14:58979249 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4392T>A (p.Val1464=) single nucleotide variant Joubert syndrome 23 [RCV002700391] Chr14:58512590 [GRCh38]
Chr14:58979308 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1875G>A (p.Glu625=) single nucleotide variant Joubert syndrome 23 [RCV003023478] Chr14:58460061 [GRCh38]
Chr14:58926779 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3338C>T (p.Thr1113Ile) single nucleotide variant Joubert syndrome 23 [RCV002643197] Chr14:58487920 [GRCh38]
Chr14:58954638 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.634A>G (p.Ser212Gly) single nucleotide variant Inborn genetic diseases [RCV002929824] Chr14:58444002 [GRCh38]
Chr14:58910720 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3859-13A>G single nucleotide variant Joubert syndrome 23 [RCV002851815] Chr14:58492131 [GRCh38]
Chr14:58958849 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4398T>C (p.Asn1466=) single nucleotide variant Joubert syndrome 23 [RCV003006419] Chr14:58512596 [GRCh38]
Chr14:58979314 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3843T>A (p.His1281Gln) single nucleotide variant Joubert syndrome 23 [RCV002746790] Chr14:58490225 [GRCh38]
Chr14:58956943 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3371C>T (p.Pro1124Leu) single nucleotide variant Joubert syndrome 23 [RCV003058765] Chr14:58487953 [GRCh38]
Chr14:58954671 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.344A>C (p.Asn115Thr) single nucleotide variant Joubert syndrome 23 [RCV002746789] Chr14:58432391 [GRCh38]
Chr14:58899109 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3718_3719del (p.Leu1240fs) deletion Joubert syndrome 23 [RCV002646454] Chr14:58488810..58488811 [GRCh38]
Chr14:58955528..58955529 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4255C>T (p.Pro1419Ser) single nucleotide variant Inborn genetic diseases [RCV002792908] Chr14:58508641 [GRCh38]
Chr14:58975359 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2191A>G (p.Arg731Gly) single nucleotide variant Inborn genetic diseases [RCV002896245] Chr14:58465966 [GRCh38]
Chr14:58932684 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4049C>A (p.Ala1350Glu) single nucleotide variant Joubert syndrome 23 [RCV002646738] Chr14:58498841 [GRCh38]
Chr14:58965559 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1447G>A (p.Val483Ile) single nucleotide variant Joubert syndrome 23 [RCV002597895] Chr14:58457843 [GRCh38]
Chr14:58924561 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4133_4138delinsAA (p.Pro1378fs) indel Inborn genetic diseases [RCV002830437] Chr14:58498925..58498930 [GRCh38]
Chr14:58965643..58965648 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1030C>T (p.Arg344Cys) single nucleotide variant Joubert syndrome 23 [RCV003085381] Chr14:58450647 [GRCh38]
Chr14:58917365 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.64C>A (p.Arg22Ser) single nucleotide variant Inborn genetic diseases [RCV002701830] Chr14:58428328 [GRCh38]
Chr14:58895046 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2553G>T (p.Lys851Asn) single nucleotide variant Joubert syndrome 23 [RCV002715187] Chr14:58470723 [GRCh38]
Chr14:58937441 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1125C>T (p.His375=) single nucleotide variant Joubert syndrome 23 [RCV002856315] Chr14:58450742 [GRCh38]
Chr14:58917460 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.127G>A (p.Val43Ile) single nucleotide variant Joubert syndrome 23 [RCV003043677] Chr14:58428391 [GRCh38]
Chr14:58895109 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2826-12C>T single nucleotide variant Joubert syndrome 23 [RCV003026326] Chr14:58477111 [GRCh38]
Chr14:58943829 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4241C>T (p.Ser1414Phe) single nucleotide variant Joubert syndrome 23 [RCV002667005] Chr14:58508627 [GRCh38]
Chr14:58975345 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1088T>C (p.Leu363Pro) single nucleotide variant Joubert syndrome 23 [RCV003025340] Chr14:58450705 [GRCh38]
Chr14:58917423 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.199+13A>G single nucleotide variant Joubert syndrome 23 [RCV002918379] Chr14:58428476 [GRCh38]
Chr14:58895194 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.913C>T (p.Leu305Phe) single nucleotide variant Joubert syndrome 23 [RCV002919080] Chr14:58448445 [GRCh38]
Chr14:58915163 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1508A>G (p.Glu503Gly) single nucleotide variant Joubert syndrome 23 [RCV002805928] Chr14:58457904 [GRCh38]
Chr14:58924622 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3145-8T>C single nucleotide variant Joubert syndrome 23 [RCV003085443] Chr14:58486999 [GRCh38]
Chr14:58953717 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+1_4495+2insAAG insertion Joubert syndrome 23 [RCV002576581] Chr14:58540136..58540137 [GRCh38]
Chr14:59006854..59006855 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.1329C>T (p.Gly443=) single nucleotide variant Joubert syndrome 23 [RCV003060162] Chr14:58456777 [GRCh38]
Chr14:58923495 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2380C>T (p.Pro794Ser) single nucleotide variant Inborn genetic diseases [RCV003377896]|Joubert syndrome 23 [RCV002596179] Chr14:58467860 [GRCh38]
Chr14:58934578 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1989A>G (p.Pro663=) single nucleotide variant Joubert syndrome 23 [RCV003086267] Chr14:58461090 [GRCh38]
Chr14:58927808 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2469C>A (p.Ser823Arg) single nucleotide variant Joubert syndrome 23 [RCV002596563] Chr14:58470639 [GRCh38]
Chr14:58937357 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2825+15T>G single nucleotide variant Joubert syndrome 23 [RCV003027145] Chr14:58474812 [GRCh38]
Chr14:58941530 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1584-5del deletion Joubert syndrome 23 [RCV002745681] Chr14:58458465 [GRCh38]
Chr14:58925183 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3232A>G (p.Thr1078Ala) single nucleotide variant Joubert syndrome 23 [RCV002667550] Chr14:58487094 [GRCh38]
Chr14:58953812 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4616A>G (p.Asp1539Gly) single nucleotide variant Joubert syndrome 23 [RCV003043823] Chr14:58547901 [GRCh38]
Chr14:59014619 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3510A>T (p.Glu1170Asp) single nucleotide variant Joubert syndrome 23 [RCV003025668] Chr14:58488092 [GRCh38]
Chr14:58954810 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.807+12A>G single nucleotide variant Joubert syndrome 23 [RCV002714786] Chr14:58444187 [GRCh38]
Chr14:58910905 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.642A>G (p.Leu214=) single nucleotide variant Joubert syndrome 23 [RCV002853299] Chr14:58444010 [GRCh38]
Chr14:58910728 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2810del (p.Asn937fs) deletion Joubert syndrome 23 [RCV003026799] Chr14:58474779 [GRCh38]
Chr14:58941497 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.3528-16G>A single nucleotide variant Joubert syndrome 23 [RCV003085444] Chr14:58488605 [GRCh38]
Chr14:58955323 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4345G>T (p.Asp1449Tyr) single nucleotide variant Joubert syndrome 23 [RCV003043772] Chr14:58512543 [GRCh38]
Chr14:58979261 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3808A>G (p.Thr1270Ala) single nucleotide variant Joubert syndrome 23 [RCV002644241] Chr14:58490190 [GRCh38]
Chr14:58956908 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-1380G>A single nucleotide variant Joubert syndrome 23 [RCV003060039] Chr14:58441326 [GRCh38]
Chr14:58908044 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1129+6A>C single nucleotide variant Joubert syndrome 23 [RCV002700989] Chr14:58450752 [GRCh38]
Chr14:58917470 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3326T>C (p.Met1109Thr) single nucleotide variant Joubert syndrome 23 [RCV002644119] Chr14:58487908 [GRCh38]
Chr14:58954626 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3589C>T (p.Pro1197Ser) single nucleotide variant Joubert syndrome 23 [RCV003084718] Chr14:58488682 [GRCh38]
Chr14:58955400 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4324-11A>T single nucleotide variant Joubert syndrome 23 [RCV002597689] Chr14:58512511 [GRCh38]
Chr14:58979229 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2017A>G (p.Lys673Glu) single nucleotide variant Joubert syndrome 23 [RCV002646537] Chr14:58461118 [GRCh38]
Chr14:58927836 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2461A>G (p.Ile821Val) single nucleotide variant Inborn genetic diseases [RCV003161957]|Joubert syndrome 23 [RCV002596225] Chr14:58470631 [GRCh38]
Chr14:58937349 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1657-13T>C single nucleotide variant Joubert syndrome 23 [RCV003060729] Chr14:58459830 [GRCh38]
Chr14:58926548 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3574C>T (p.Pro1192Ser) single nucleotide variant Joubert syndrome 23 [RCV002596247] Chr14:58488667 [GRCh38]
Chr14:58955385 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.306T>G (p.Pro102=) single nucleotide variant Joubert syndrome 23 [RCV002829794] Chr14:58430683 [GRCh38]
Chr14:58897401 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3250T>C (p.Cys1084Arg) single nucleotide variant Joubert syndrome 23 [RCV003059353] Chr14:58487112 [GRCh38]
Chr14:58953830 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4562C>T (p.Ser1521Leu) single nucleotide variant Joubert syndrome 23 [RCV002579010] Chr14:58547847 [GRCh38]
Chr14:59014565 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1852C>G (p.Pro618Ala) single nucleotide variant Joubert syndrome 23 [RCV002628922] Chr14:58460038 [GRCh38]
Chr14:58926756 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1885-15A>T single nucleotide variant Joubert syndrome 23 [RCV003090611] Chr14:58460971 [GRCh38]
Chr14:58927689 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2634+10C>G single nucleotide variant Joubert syndrome 23 [RCV002811480] Chr14:58472289 [GRCh38]
Chr14:58939007 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1821G>A (p.Glu607=) single nucleotide variant Joubert syndrome 23 [RCV002631290] Chr14:58460007 [GRCh38]
Chr14:58926725 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.374G>A (p.Gly125Glu) single nucleotide variant Joubert syndrome 23 [RCV002939107] Chr14:58432421 [GRCh38]
Chr14:58899139 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1680T>C (p.Tyr560=) single nucleotide variant Joubert syndrome 23 [RCV002650390] Chr14:58459866 [GRCh38]
Chr14:58926584 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3339T>C (p.Thr1113=) single nucleotide variant Joubert syndrome 23 [RCV002898805] Chr14:58487921 [GRCh38]
Chr14:58954639 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2787T>C (p.Ile929=) single nucleotide variant Joubert syndrome 23 [RCV002833182] Chr14:58474759 [GRCh38]
Chr14:58941477 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1273C>G (p.Leu425Val) single nucleotide variant Joubert syndrome 23 [RCV003045180] Chr14:58456721 [GRCh38]
Chr14:58923439 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2476A>G (p.Asn826Asp) single nucleotide variant Joubert syndrome 23 [RCV002647671] Chr14:58470646 [GRCh38]
Chr14:58937364 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3896T>C (p.Met1299Thr) single nucleotide variant Joubert syndrome 23 [RCV003045717] Chr14:58492181 [GRCh38]
Chr14:58958899 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3997G>A (p.Glu1333Lys) single nucleotide variant Joubert syndrome 23 [RCV002577522] Chr14:58498789 [GRCh38]
Chr14:58965507 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4386A>G (p.Leu1462=) single nucleotide variant Joubert syndrome 23 [RCV002770824] Chr14:58512584 [GRCh38]
Chr14:58979302 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+4A>G single nucleotide variant Joubert syndrome 23 [RCV003088405] Chr14:58540140 [GRCh38]
Chr14:59006858 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3053C>T (p.Ala1018Val) single nucleotide variant Inborn genetic diseases [RCV002807480] Chr14:58482621 [GRCh38]
Chr14:58949339 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3716C>T (p.Thr1239Ile) single nucleotide variant Joubert syndrome 23 [RCV003088895] Chr14:58488809 [GRCh38]
Chr14:58955527 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1667C>T (p.Ser556Leu) single nucleotide variant Joubert syndrome 23 [RCV003029233] Chr14:58459853 [GRCh38]
Chr14:58926571 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1782T>A (p.Ser594=) single nucleotide variant Joubert syndrome 23 [RCV002857668] Chr14:58459968 [GRCh38]
Chr14:58926686 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1645del (p.Ala549fs) deletion Joubert syndrome 23 [RCV003046199] Chr14:58458534 [GRCh38]
Chr14:58925252 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.456A>G (p.Leu152=) single nucleotide variant Joubert syndrome 23 [RCV002647391] Chr14:58442751 [GRCh38]
Chr14:58909469 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3804C>G (p.Tyr1268Ter) single nucleotide variant Joubert syndrome 23 [RCV002833576] Chr14:58490186 [GRCh38]
Chr14:58956904 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2413A>G (p.Lys805Glu) single nucleotide variant Joubert syndrome 23 [RCV003088159] Chr14:58467893 [GRCh38]
Chr14:58934611 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.666A>G (p.Gln222=) single nucleotide variant Joubert syndrome 23 [RCV002599523] Chr14:58444034 [GRCh38]
Chr14:58910752 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4518C>T (p.Ser1506=) single nucleotide variant Joubert syndrome 23 [RCV003088792] Chr14:58547803 [GRCh38]
Chr14:59014521 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+3729T>C single nucleotide variant Joubert syndrome 23 [RCV002834635] Chr14:58543865 [GRCh38]
Chr14:59010583 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2320G>A (p.Val774Ile) single nucleotide variant Joubert syndrome 23 [RCV002937709] Chr14:58467800 [GRCh38]
Chr14:58934518 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.586-4T>G single nucleotide variant Joubert syndrome 23 [RCV003029858] Chr14:58443950 [GRCh38]
Chr14:58910668 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.835A>C (p.Thr279Pro) single nucleotide variant Joubert syndrome 23 [RCV002856580] Chr14:58448367 [GRCh38]
Chr14:58915085 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.502A>G (p.Ile168Val) single nucleotide variant Joubert syndrome 23 [RCV003062729] Chr14:58442797 [GRCh38]
Chr14:58909515 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.322G>A (p.Glu108Lys) single nucleotide variant Joubert syndrome 23 [RCV003029881] Chr14:58430699 [GRCh38]
Chr14:58897417 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1459G>T (p.Ala487Ser) single nucleotide variant Joubert syndrome 23 [RCV003063303] Chr14:58457855 [GRCh38]
Chr14:58924573 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.215C>A (p.Thr72Asn) single nucleotide variant Joubert syndrome 23 [RCV002899730] Chr14:58429378 [GRCh38]
Chr14:58896096 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2717A>G (p.Tyr906Cys) single nucleotide variant Joubert syndrome 23 [RCV002833963] Chr14:58474689 [GRCh38]
Chr14:58941407 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.809C>A (p.Thr270Asn) single nucleotide variant Inborn genetic diseases [RCV002718994] Chr14:58448341 [GRCh38]
Chr14:58915059 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4373C>G (p.Ser1458Ter) single nucleotide variant Joubert syndrome 23 [RCV003029236] Chr14:58512571 [GRCh38]
Chr14:58979289 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4002C>T (p.Asn1334=) single nucleotide variant Joubert syndrome 23 [RCV002811015] Chr14:58498794 [GRCh38]
Chr14:58965512 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3300A>T (p.Glu1100Asp) single nucleotide variant Joubert syndrome 23 [RCV003010044] Chr14:58487162 [GRCh38]
Chr14:58953880 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4114T>C (p.Leu1372=) single nucleotide variant Joubert syndrome 23 [RCV003028107] Chr14:58498906 [GRCh38]
Chr14:58965624 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3780G>A (p.Lys1260=) single nucleotide variant Joubert syndrome 23 [RCV002649711] Chr14:58488873 [GRCh38]
Chr14:58955591 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2059G>T (p.Gly687Cys) single nucleotide variant Joubert syndrome 23 [RCV003062898] Chr14:58461160 [GRCh38]
Chr14:58927878 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2041G>C (p.Val681Leu) single nucleotide variant Joubert syndrome 23 [RCV003061808] Chr14:58461142 [GRCh38]
Chr14:58927860 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2890C>T (p.Pro964Ser) single nucleotide variant Joubert syndrome 23 [RCV002671091] Chr14:58477187 [GRCh38]
Chr14:58943905 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1503T>C (p.Leu501=) single nucleotide variant Joubert syndrome 23 [RCV002833940] Chr14:58457899 [GRCh38]
Chr14:58924617 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2826-11C>T single nucleotide variant Joubert syndrome 23 [RCV002671924] Chr14:58477112 [GRCh38]
Chr14:58943830 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3226G>A (p.Val1076Ile) single nucleotide variant Joubert syndrome 23 [RCV002717367] Chr14:58487088 [GRCh38]
Chr14:58953806 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1575T>C (p.Ser525=) single nucleotide variant Joubert syndrome 23 [RCV003063360] Chr14:58457971 [GRCh38]
Chr14:58924689 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3226G>T (p.Val1076Leu) single nucleotide variant Joubert syndrome 23 [RCV003063978] Chr14:58487088 [GRCh38]
Chr14:58953806 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1026A>G (p.Ala342=) single nucleotide variant Joubert syndrome 23 [RCV002834103] Chr14:58450643 [GRCh38]
Chr14:58917361 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1373C>A (p.Ser458Tyr) single nucleotide variant Joubert syndrome 23 [RCV003027517] Chr14:58457769 [GRCh38]
Chr14:58924487 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2304C>T (p.Val768=) single nucleotide variant Joubert syndrome 23 [RCV002717001] Chr14:58467784 [GRCh38]
Chr14:58934502 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3038T>C (p.Leu1013Pro) single nucleotide variant Inborn genetic diseases [RCV002673366] Chr14:58482606 [GRCh38]
Chr14:58949324 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2260A>T (p.Thr754Ser) single nucleotide variant Joubert syndrome 23 [RCV002834632] Chr14:58467740 [GRCh38]
Chr14:58934458 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1443A>G (p.Arg481=) single nucleotide variant Joubert syndrome 23 [RCV003063015] Chr14:58457839 [GRCh38]
Chr14:58924557 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1189G>A (p.Glu397Lys) single nucleotide variant Joubert syndrome 23 [RCV003027907] Chr14:58453409 [GRCh38]
Chr14:58920127 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2556T>G (p.Thr852=) single nucleotide variant Joubert syndrome 23 [RCV003070277] Chr14:58472201 [GRCh38]
Chr14:58938919 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.625G>C (p.Glu209Gln) single nucleotide variant Joubert syndrome 23 [RCV002586576] Chr14:58443993 [GRCh38]
Chr14:58910711 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.586-17T>C single nucleotide variant Joubert syndrome 23 [RCV002587908] Chr14:58443937 [GRCh38]
Chr14:58910655 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2012C>G (p.Ser671Cys) single nucleotide variant Joubert syndrome 23 [RCV002635469]|not provided [RCV003130735] Chr14:58461113 [GRCh38]
Chr14:58927831 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4496-3799A>G single nucleotide variant Joubert syndrome 23 [RCV002725548] Chr14:58543982 [GRCh38]
Chr14:59010700 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1487A>G (p.Asn496Ser) single nucleotide variant Joubert syndrome 23 [RCV003091024] Chr14:58457883 [GRCh38]
Chr14:58924601 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2362G>A (p.Glu788Lys) single nucleotide variant Inborn genetic diseases [RCV003349017]|Joubert syndrome 23 [RCV003072323] Chr14:58467842 [GRCh38]
Chr14:58934560 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2977T>C (p.Phe993Leu) single nucleotide variant Joubert syndrome 23 [RCV003072338] Chr14:58482545 [GRCh38]
Chr14:58949263 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3092C>A (p.Pro1031His) single nucleotide variant Inborn genetic diseases [RCV002813057] Chr14:58482660 [GRCh38]
Chr14:58949378 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3906A>G (p.Lys1302=) single nucleotide variant Joubert syndrome 23 [RCV003071027] Chr14:58492191 [GRCh38]
Chr14:58958909 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4122A>G (p.Gln1374=) single nucleotide variant Joubert syndrome 23 [RCV002604432] Chr14:58498914 [GRCh38]
Chr14:58965632 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4001A>G (p.Asn1334Ser) single nucleotide variant Joubert syndrome 23 [RCV003071618] Chr14:58498793 [GRCh38]
Chr14:58965511 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.340+6del deletion Joubert syndrome 23 [RCV003072030] Chr14:58430720 [GRCh38]
Chr14:58897438 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.468C>G (p.Gly156=) single nucleotide variant Joubert syndrome 23 [RCV003072848]|not provided [RCV003883875] Chr14:58442763 [GRCh38]
Chr14:58909481 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2786T>C (p.Ile929Thr) single nucleotide variant Joubert syndrome 23 [RCV003071224] Chr14:58474758 [GRCh38]
Chr14:58941476 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4492T>A (p.Ser1498Thr) single nucleotide variant Joubert syndrome 23 [RCV002586097] Chr14:58540133 [GRCh38]
Chr14:59006851 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.139T>C (p.Leu47=) single nucleotide variant Joubert syndrome 23 [RCV003051120] Chr14:58428403 [GRCh38]
Chr14:58895121 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1332A>G (p.Gln444=) single nucleotide variant Joubert syndrome 23 [RCV003070092] Chr14:58456780 [GRCh38]
Chr14:58923498 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3427G>T (p.Val1143Leu) single nucleotide variant Joubert syndrome 23 [RCV002811654] Chr14:58488009 [GRCh38]
Chr14:58954727 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3305-17T>A single nucleotide variant Joubert syndrome 23 [RCV002654644] Chr14:58487870 [GRCh38]
Chr14:58954588 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3479A>C (p.Glu1160Ala) single nucleotide variant Joubert syndrome 23 [RCV002632112] Chr14:58488061 [GRCh38]
Chr14:58954779 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2213G>T (p.Gly738Val) single nucleotide variant Joubert syndrome 23 [RCV003049745] Chr14:58465988 [GRCh38]
Chr14:58932706 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.586G>T (p.Val196Leu) single nucleotide variant Inborn genetic diseases [RCV003069613]|Joubert syndrome 23 [RCV003093464] Chr14:58443954 [GRCh38]
Chr14:58910672 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3868_3869delinsGT (p.Pro1290Val) indel Joubert syndrome 23 [RCV003067781] Chr14:58492153..58492154 [GRCh38]
Chr14:58958871..58958872 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3821A>G (p.Asp1274Gly) single nucleotide variant Joubert syndrome 23 [RCV002632850] Chr14:58490203 [GRCh38]
Chr14:58956921 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2928A>G (p.Pro976=) single nucleotide variant Joubert syndrome 23 [RCV002943554] Chr14:58477225 [GRCh38]
Chr14:58943943 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.508C>T (p.Pro170Ser) single nucleotide variant Joubert syndrome 23 [RCV002583226] Chr14:58442803 [GRCh38]
Chr14:58909521 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3179C>G (p.Pro1060Arg) single nucleotide variant Joubert syndrome 23 [RCV002631800] Chr14:58487041 [GRCh38]
Chr14:58953759 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2061C>G (p.Gly687=) single nucleotide variant Joubert syndrome 23 [RCV002585290] Chr14:58465836 [GRCh38]
Chr14:58932554 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1362+10G>T single nucleotide variant Joubert syndrome 23 [RCV002603084] Chr14:58456820 [GRCh38]
Chr14:58923538 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-12T>G single nucleotide variant Joubert syndrome 23 [RCV002584989] Chr14:58442694 [GRCh38]
Chr14:58909412 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2486C>A (p.Ala829Asp) single nucleotide variant Joubert syndrome 23 [RCV003066624] Chr14:58470656 [GRCh38]
Chr14:58937374 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3871C>T (p.Pro1291Ser) single nucleotide variant Joubert syndrome 23 [RCV002635669] Chr14:58492156 [GRCh38]
Chr14:58958874 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2164G>A (p.Asp722Asn) single nucleotide variant Joubert syndrome 23 [RCV002603202] Chr14:58465939 [GRCh38]
Chr14:58932657 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4524A>G (p.Ser1508=) single nucleotide variant Joubert syndrome 23 [RCV003050412] Chr14:58547809 [GRCh38]
Chr14:59014527 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4352A>G (p.Lys1451Arg) single nucleotide variant Joubert syndrome 23 [RCV002815036] Chr14:58512550 [GRCh38]
Chr14:58979268 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.-47A>G single nucleotide variant Joubert syndrome 23 [RCV003067114] Chr14:58428218 [GRCh38]
Chr14:58894936 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3859-3_3865del deletion Joubert syndrome 23 [RCV003067780] Chr14:58492141..58492150 [GRCh38]
Chr14:58958859..58958868 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.1513C>G (p.Leu505Val) single nucleotide variant Joubert syndrome 23 [RCV002967145] Chr14:58457909 [GRCh38]
Chr14:58924627 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2024G>A (p.Arg675Lys) single nucleotide variant Joubert syndrome 23 [RCV002942085] Chr14:58461125 [GRCh38]
Chr14:58927843 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.341-17G>C single nucleotide variant Joubert syndrome 23 [RCV002654615] Chr14:58432371 [GRCh38]
Chr14:58899089 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1362+17C>T single nucleotide variant Joubert syndrome 23 [RCV002634276] Chr14:58456827 [GRCh38]
Chr14:58923545 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1512C>A (p.Asn504Lys) single nucleotide variant Joubert syndrome 23 [RCV002654649] Chr14:58457908 [GRCh38]
Chr14:58924626 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3990G>A (p.Glu1330=) single nucleotide variant Joubert syndrome 23 [RCV002605881] Chr14:58492275 [GRCh38]
Chr14:58958993 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3169_3171dup (p.Thr1057_Pro1058insThr) duplication Joubert syndrome 23 [RCV003066847] Chr14:58487030..58487031 [GRCh38]
Chr14:58953748..58953749 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3322A>G (p.Ile1108Val) single nucleotide variant Joubert syndrome 23 [RCV003093681] Chr14:58487904 [GRCh38]
Chr14:58954622 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3185C>T (p.Pro1062Leu) single nucleotide variant Joubert syndrome 23 [RCV003049281] Chr14:58487047 [GRCh38]
Chr14:58953765 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1163A>G (p.Asn388Ser) single nucleotide variant Joubert syndrome 23 [RCV002943836] Chr14:58453383 [GRCh38]
Chr14:58920101 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1593A>G (p.Ser531=) single nucleotide variant Joubert syndrome 23 [RCV002605934] Chr14:58458482 [GRCh38]
Chr14:58925200 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2442+16T>C single nucleotide variant Joubert syndrome 23 [RCV002725270] Chr14:58467938 [GRCh38]
Chr14:58934656 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1638T>C (p.Thr546=) single nucleotide variant Joubert syndrome 23 [RCV002633923] Chr14:58458527 [GRCh38]
Chr14:58925245 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3598C>G (p.Pro1200Ala) single nucleotide variant Joubert syndrome 23 [RCV003069021] Chr14:58488691 [GRCh38]
Chr14:58955409 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4446G>A (p.Met1482Ile) single nucleotide variant Joubert syndrome 23 [RCV002725902] Chr14:58540087 [GRCh38]
Chr14:59006805 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2239A>G (p.Met747Val) single nucleotide variant Joubert syndrome 23 [RCV003092860] Chr14:58466014 [GRCh38]
Chr14:58932732 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+6A>G single nucleotide variant Joubert syndrome 23 [RCV003049010] Chr14:58540142 [GRCh38]
Chr14:59006860 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.213_270+11dup duplication Joubert syndrome 23 [RCV002654744] Chr14:58429375..58429376 [GRCh38]
Chr14:58896093..58896094 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3378G>A (p.Ala1126=) single nucleotide variant Joubert syndrome 23 [RCV003069729] Chr14:58487960 [GRCh38]
Chr14:58954678 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3305-17_3305-16insG insertion Joubert syndrome 23 [RCV002676945] Chr14:58487870..58487871 [GRCh38]
Chr14:58954588..58954589 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.658C>T (p.His220Tyr) single nucleotide variant Joubert syndrome 23 [RCV002633684] Chr14:58444026 [GRCh38]
Chr14:58910744 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3813C>T (p.Asn1271=) single nucleotide variant Joubert syndrome 23 [RCV002943792] Chr14:58490195 [GRCh38]
Chr14:58956913 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3182C>T (p.Thr1061Met) single nucleotide variant Joubert syndrome 23 [RCV002582586] Chr14:58487044 [GRCh38]
Chr14:58953762 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2740G>A (p.Val914Ile) single nucleotide variant Inborn genetic diseases [RCV002652007] Chr14:58474712 [GRCh38]
Chr14:58941430 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3144+2T>A single nucleotide variant not provided [RCV003146810] Chr14:58482714 [GRCh38]
Chr14:58949432 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.572C>A (p.Ala191Asp) single nucleotide variant not specified [RCV003151547] Chr14:58442867 [GRCh38]
Chr14:58909585 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.*889G>A single nucleotide variant not provided [RCV003133860] Chr14:58548821 [GRCh38]
Chr14:59015539 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.298G>A (p.Val100Met) single nucleotide variant not provided [RCV003133859] Chr14:58430675 [GRCh38]
Chr14:58897393 [GRCh37]
Chr14:14q23.1		 uncertain significance
NC_000014.8:g.(?_58910652)_(58910913_?)del deletion Joubert syndrome 23 [RCV003105706] Chr14:58910652..58910913 [GRCh37]
Chr14:14q23.1		 uncertain significance
NC_000014.8:g.(?_58926541)_(58927898_?)del deletion Joubert syndrome 23 [RCV003105707] Chr14:58926541..58927898 [GRCh37]
Chr14:14q23.1		 pathogenic
NC_000014.8:g.(?_58938897)_(58941535_?)del deletion Joubert syndrome 23 [RCV003105708] Chr14:58938897..58941535 [GRCh37]
Chr14:14q23.1		 pathogenic
NC_000014.8:g.(?_58949211)_(58949450_?)dup duplication Joubert syndrome 23 [RCV003105709] Chr14:58949211..58949450 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3152T>C (p.Val1051Ala) single nucleotide variant Joubert syndrome 23 [RCV003114773] Chr14:58487014 [GRCh38]
Chr14:58953732 [GRCh37]
Chr14:14q23.1		 uncertain significance
NC_000014.8:g.(?_58896061)_(58899195_?)dup duplication Joubert syndrome 23 [RCV003105711] Chr14:58896061..58899195 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.2557C>T (p.Pro853Ser) single nucleotide variant Joubert syndrome 23 [RCV003108432] Chr14:58472202 [GRCh38]
Chr14:58938920 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3129T>C (p.Asn1043=) single nucleotide variant Joubert syndrome 23 [RCV003110773] Chr14:58482697 [GRCh38]
Chr14:58949415 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4429+11T>A single nucleotide variant Joubert syndrome 23 [RCV003121600] Chr14:58512638 [GRCh38]
Chr14:58979356 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4517C>T (p.Ser1506Phe) single nucleotide variant Joubert syndrome 23 [RCV003121676] Chr14:58547802 [GRCh38]
Chr14:59014520 [GRCh37]
Chr14:14q23.1		 likely benign|uncertain significance
NM_001329943.3(KIAA0586):c.807+1G>T single nucleotide variant Joubert syndrome 23 [RCV003110896] Chr14:58444176 [GRCh38]
Chr14:58910894 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3304G>A (p.Gly1102Arg) single nucleotide variant Joubert syndrome 23 [RCV003117298] Chr14:58487166 [GRCh38]
Chr14:58953884 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.524C>T (p.Ser175Leu) single nucleotide variant Joubert syndrome 23 [RCV003121698] Chr14:58442819 [GRCh38]
Chr14:58909537 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.138A>G (p.Ala46=) single nucleotide variant Joubert syndrome 23 [RCV003109097] Chr14:58428402 [GRCh38]
Chr14:58895120 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1885-12_1885-11del deletion Joubert syndrome 23 [RCV003119457] Chr14:58460973..58460974 [GRCh38]
Chr14:58927691..58927692 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3304+5A>C single nucleotide variant Joubert syndrome 23 [RCV003121095] Chr14:58487171 [GRCh38]
Chr14:58953889 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.831C>G (p.Leu277=) single nucleotide variant Joubert syndrome 23 [RCV003112889] Chr14:58448363 [GRCh38]
Chr14:58915081 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4564G>C (p.Val1522Leu) single nucleotide variant Joubert syndrome 23 [RCV003114099] Chr14:58547849 [GRCh38]
Chr14:59014567 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.492G>A (p.Gln164=) single nucleotide variant Joubert syndrome 23 [RCV003115701] Chr14:58442787 [GRCh38]
Chr14:58909505 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3144+20C>G single nucleotide variant Joubert syndrome 23 [RCV003118462] Chr14:58482732 [GRCh38]
Chr14:58949450 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2002A>T (p.Asn668Tyr) single nucleotide variant Joubert syndrome 23 [RCV002588825] Chr14:58461103 [GRCh38]
Chr14:58927821 [GRCh37]
Chr14:14q23.1		 uncertain significance
NC_000014.8:g.(?_58975253)_(58975447_?)del deletion Joubert syndrome 23 [RCV003105705] Chr14:58975253..58975447 [GRCh37]
Chr14:14q23.1		 pathogenic
NC_000014.8:g.(?_58894347)_(58899195_?)dup duplication Joubert syndrome 23 [RCV003105710] Chr14:58894347..58899195 [GRCh37]
Chr14:14q23.1		 uncertain significance
NC_000014.8:g.(?_59010581)_(59014694_?)dup duplication Joubert syndrome 23 [RCV003105712] Chr14:59010581..59014694 [GRCh37]
Chr14:14q23.1		 uncertain significance
NC_000014.8:g.(?_58910652)_(58917484_?)dup duplication Joubert syndrome 23 [RCV003105713] Chr14:58910652..58917484 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NC_000014.8:g.(?_58951496)_(58953792_?)del deletion Joubert syndrome 23 [RCV003105714] Chr14:58951496..58953792 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NC_000014.8:g.(?_58894347)_(59014694_?)dup duplication Joubert syndrome 23 [RCV003105715] Chr14:58894347..59014694 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2465A>G (p.Asp822Gly) single nucleotide variant Joubert syndrome 23 [RCV002588967] Chr14:58470635 [GRCh38]
Chr14:58937353 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1254-12A>G single nucleotide variant Joubert syndrome 23 [RCV003107042] Chr14:58456690 [GRCh38]
Chr14:58923408 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1884+1G>T single nucleotide variant Joubert syndrome 23 [RCV002588660] Chr14:58460071 [GRCh38]
Chr14:58926789 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.82A>C (p.Asn28His) single nucleotide variant Joubert syndrome 23 [RCV002589826] Chr14:58428346 [GRCh38]
Chr14:58895064 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2426C>T (p.Pro809Leu) single nucleotide variant Joubert syndrome 23 [RCV002589927] Chr14:58467906 [GRCh38]
Chr14:58934624 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3190T>C (p.Cys1064Arg) single nucleotide variant Inborn genetic diseases [RCV003208361] Chr14:58487052 [GRCh38]
Chr14:58953770 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+3797T>C single nucleotide variant Joubert syndrome 23 [RCV002612116] Chr14:58543933 [GRCh38]
Chr14:59010651 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.469A>G (p.Ile157Val) single nucleotide variant Inborn genetic diseases [RCV003205805] Chr14:58442764 [GRCh38]
Chr14:58909482 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.289G>A (p.Ala97Thr) single nucleotide variant Inborn genetic diseases [RCV003211943] Chr14:58430666 [GRCh38]
Chr14:58897384 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2341C>T (p.Pro781Ser) single nucleotide variant Inborn genetic diseases [RCV003249233] Chr14:58467821 [GRCh38]
Chr14:58934539 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3842A>C (p.His1281Pro) single nucleotide variant Inborn genetic diseases [RCV003291686] Chr14:58490224 [GRCh38]
Chr14:58956942 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4157A>G (p.Asp1386Gly) single nucleotide variant Inborn genetic diseases [RCV003212878] Chr14:58498949 [GRCh38]
Chr14:58965667 [GRCh37]
Chr14:14q23.1		 uncertain significance
GRCh37/hg19 14q22.3-23.1(chr14:57675327-59806898)x1 copy number loss not provided [RCV003326901] Chr14:57675327..59806898 [GRCh37]
Chr14:14q22.3-23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.425del (p.Pro142fs) deletion Joubert syndrome 23 [RCV003340991] Chr14:58442719 [GRCh38]
Chr14:58909437 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3747T>G (p.Ile1249Met) single nucleotide variant Inborn genetic diseases [RCV003288051] Chr14:58488840 [GRCh38]
Chr14:58955558 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.761A>C (p.His254Pro) single nucleotide variant Inborn genetic diseases [RCV003304802] Chr14:58444129 [GRCh38]
Chr14:58910847 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4495+3751G>A single nucleotide variant not provided [RCV003393448] Chr14:58543887 [GRCh38]
Chr14:59010605 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1328G>A (p.Gly443Asp) single nucleotide variant Inborn genetic diseases [RCV003362198] Chr14:58456776 [GRCh38]
Chr14:58923494 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2530C>T (p.Pro844Ser) single nucleotide variant not provided [RCV003393446] Chr14:58470700 [GRCh38]
Chr14:58937418 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3793dup (p.Ile1265fs) duplication Joubert syndrome 23 [RCV003333341]|Joubert syndrome 23 [RCV003777408] Chr14:58490174..58490175 [GRCh38]
Chr14:58956892..58956893 [GRCh37]
Chr14:14q23.1		 pathogenic|likely pathogenic
NM_001329943.3(KIAA0586):c.3168T>C (p.Pro1056=) single nucleotide variant not specified [RCV003388479] Chr14:58487030 [GRCh38]
Chr14:58953748 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1196C>G (p.Ser399Ter) single nucleotide variant KIAA0586-related condition [RCV003394418] Chr14:58453416 [GRCh38]
Chr14:58920134 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3090T>C (p.Gly1030=) single nucleotide variant not provided [RCV003393447] Chr14:58482658 [GRCh38]
Chr14:58949376 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1909del (p.Ile637fs) deletion KIAA0586-related condition [RCV003412379] Chr14:58461009 [GRCh38]
Chr14:58927727 [GRCh37]
Chr14:14q23.1		 pathogenic
GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1 copy number loss not provided [RCV003483204] Chr14:55667390..64447598 [GRCh37]
Chr14:14q22.3-23.2		 pathogenic
NM_001329943.3(KIAA0586):c.3374C>G (p.Ala1125Gly) single nucleotide variant Joubert syndrome 23 [RCV003448807] Chr14:58487956 [GRCh38]
Chr14:58954674 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.961+11G>T single nucleotide variant Joubert syndrome 23 [RCV003787159] Chr14:58448504 [GRCh38]
Chr14:58915222 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3645C>T (p.Pro1215=) single nucleotide variant Joubert syndrome 23 [RCV003780407] Chr14:58488738 [GRCh38]
Chr14:58955456 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2153T>C (p.Leu718Ser) single nucleotide variant Joubert syndrome 23 [RCV003789955] Chr14:58465928 [GRCh38]
Chr14:58932646 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2826-10A>G single nucleotide variant Joubert syndrome 23 [RCV003789220] Chr14:58477113 [GRCh38]
Chr14:58943831 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1404G>A single nucleotide variant Joubert syndrome 23 [RCV003780370] Chr14:58441302 [GRCh38]
Chr14:58908020 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2877G>A (p.Gln959=) single nucleotide variant Joubert syndrome 23 [RCV003787922] Chr14:58477174 [GRCh38]
Chr14:58943892 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.540T>A (p.Ala180=) single nucleotide variant not provided [RCV003456868] Chr14:58442835 [GRCh38]
Chr14:58909553 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.887A>G (p.Tyr296Cys) single nucleotide variant Joubert syndrome 23 [RCV003447455] Chr14:58448419 [GRCh38]
Chr14:58915137 [GRCh37]
Chr14:14q23.1		 likely pathogenic
GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3 copy number gain not provided [RCV003485034] Chr14:57588965..68334517 [GRCh37]
Chr14:14q22.3-24.1		 likely pathogenic
GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3 copy number gain not provided [RCV003485022] Chr14:20511673..61826023 [GRCh37]
Chr14:14q11.2-23.1		 pathogenic
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33		 pathogenic
NM_001329943.3(KIAA0586):c.3777C>T (p.Pro1259=) single nucleotide variant Joubert syndrome 23 [RCV003787812]|KIAA0586-related condition [RCV003966668] Chr14:58488870 [GRCh38]
Chr14:58955588 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1927_1928del (p.Met643fs) microsatellite Joubert syndrome 23 [RCV003787592] Chr14:58461025..58461026 [GRCh38]
Chr14:58927743..58927744 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=) single nucleotide variant Joubert syndrome 23 [RCV003787046]|KIAA0586-related condition [RCV003909149] Chr14:58490168 [GRCh38]
Chr14:58956886 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1200C>T (p.Asn400=) single nucleotide variant Joubert syndrome 23 [RCV003788483] Chr14:58453420 [GRCh38]
Chr14:58920138 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.942C>T (p.Asn314=) single nucleotide variant Joubert syndrome 23 [RCV003787169] Chr14:58448474 [GRCh38]
Chr14:58915192 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4429+16A>G single nucleotide variant Joubert syndrome 23 [RCV003787988] Chr14:58512643 [GRCh38]
Chr14:58979361 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2405del (p.Lys802fs) deletion Joubert syndrome 23 [RCV003787111] Chr14:58467884 [GRCh38]
Chr14:58934602 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1716C>A (p.Thr572=) single nucleotide variant Joubert syndrome 23 [RCV003787630] Chr14:58459902 [GRCh38]
Chr14:58926620 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3859-2A>G single nucleotide variant not provided [RCV003489380] Chr14:58492142 [GRCh38]
Chr14:58958860 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.1253+17G>A single nucleotide variant Joubert syndrome 23 [RCV003793227] Chr14:58453490 [GRCh38]
Chr14:58920208 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2554-9C>A single nucleotide variant Joubert syndrome 23 [RCV003791296] Chr14:58472190 [GRCh38]
Chr14:58938908 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.891C>A (p.Ser297=) single nucleotide variant Joubert syndrome 23 [RCV003783020] Chr14:58448423 [GRCh38]
Chr14:58915141 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4525C>G (p.Gln1509Glu) single nucleotide variant Joubert syndrome 23 [RCV003783055] Chr14:58547810 [GRCh38]
Chr14:59014528 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1885-12T>G single nucleotide variant Joubert syndrome 23 [RCV003784000] Chr14:58460974 [GRCh38]
Chr14:58927692 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+3732T>A single nucleotide variant Joubert syndrome 23 [RCV003783212] Chr14:58543868 [GRCh38]
Chr14:59010586 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.961+1G>A single nucleotide variant Joubert syndrome 23 [RCV003783215] Chr14:58448494 [GRCh38]
Chr14:58915212 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.200-5G>A single nucleotide variant Joubert syndrome 23 [RCV003804295] Chr14:58429358 [GRCh38]
Chr14:58896076 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.585+10_585+11insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGTATATTTTT insertion Joubert syndrome 23 [RCV003804633] Chr14:58442876..58442877 [GRCh38]
Chr14:58909594..58909595 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.411-15dup duplication Joubert syndrome 23 [RCV003792823] Chr14:58442690..58442691 [GRCh38]
Chr14:58909408..58909409 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2796A>G (p.Lys932=) single nucleotide variant Joubert syndrome 23 [RCV003793649] Chr14:58474768 [GRCh38]
Chr14:58941486 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4430-15T>C single nucleotide variant Joubert syndrome 23 [RCV003794555] Chr14:58540056 [GRCh38]
Chr14:59006774 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3144+1G>A single nucleotide variant Joubert syndrome 23 [RCV003794811] Chr14:58482713 [GRCh38]
Chr14:58949431 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3372A>G (p.Pro1124=) single nucleotide variant Joubert syndrome 23 [RCV003782864] Chr14:58487954 [GRCh38]
Chr14:58954672 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.465del (p.Gly156fs) deletion Joubert syndrome 23 [RCV003795111] Chr14:58442760 [GRCh38]
Chr14:58909478 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.479A>G (p.Asp160Gly) single nucleotide variant Joubert syndrome 23 [RCV003804542] Chr14:58442774 [GRCh38]
Chr14:58909492 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2175T>C (p.Tyr725=) single nucleotide variant Joubert syndrome 23 [RCV003785136] Chr14:58465950 [GRCh38]
Chr14:58932668 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4168+6C>T single nucleotide variant Joubert syndrome 23 [RCV003794899] Chr14:58498966 [GRCh38]
Chr14:58965684 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1253+1G>A single nucleotide variant Joubert syndrome 23 [RCV003805154] Chr14:58453474 [GRCh38]
Chr14:58920192 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.1130-2A>G single nucleotide variant Joubert syndrome 23 [RCV003791078] Chr14:58453348 [GRCh38]
Chr14:58920066 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3781+18A>G single nucleotide variant Joubert syndrome 23 [RCV003782085] Chr14:58488892 [GRCh38]
Chr14:58955610 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3144+15del deletion Joubert syndrome 23 [RCV003792835] Chr14:58482723 [GRCh38]
Chr14:58949441 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.3918A>G (p.Ala1306=) single nucleotide variant Joubert syndrome 23 [RCV003805747] Chr14:58492203 [GRCh38]
Chr14:58958921 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.200-2A>G single nucleotide variant Joubert syndrome 23 [RCV003795784] Chr14:58429361 [GRCh38]
Chr14:58896079 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.2445A>G (p.Val815=) single nucleotide variant Joubert syndrome 23 [RCV003792442] Chr14:58470615 [GRCh38]
Chr14:58937333 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2944+19T>A single nucleotide variant Joubert syndrome 23 [RCV003791946] Chr14:58477260 [GRCh38]
Chr14:58943978 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1342_1345del (p.Glu448fs) microsatellite Joubert syndrome 23 [RCV003792460] Chr14:58456785..58456788 [GRCh38]
Chr14:58923503..58923506 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.*20A>G single nucleotide variant Joubert syndrome 23 [RCV003786058] Chr14:58547952 [GRCh38]
Chr14:59014670 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4496-3794A>G single nucleotide variant Joubert syndrome 23 [RCV003792997] Chr14:58543987 [GRCh38]
Chr14:59010705 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1253+12A>T single nucleotide variant Joubert syndrome 23 [RCV003806122] Chr14:58453485 [GRCh38]
Chr14:58920203 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.381A>G (p.Lys127=) single nucleotide variant Joubert syndrome 23 [RCV003794192] Chr14:58432428 [GRCh38]
Chr14:58899146 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1348dup duplication Joubert syndrome 23 [RCV003796573] Chr14:58441357..58441358 [GRCh38]
Chr14:58908075..58908076 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2034A>G (p.Arg678=) single nucleotide variant Joubert syndrome 23 [RCV003795713] Chr14:58461135 [GRCh38]
Chr14:58927853 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.808-20A>C single nucleotide variant Joubert syndrome 23 [RCV003795190] Chr14:58448320 [GRCh38]
Chr14:58915038 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.134_137dup (p.Leu47fs) duplication Joubert syndrome 23 [RCV003791741] Chr14:58428396..58428397 [GRCh38]
Chr14:58895114..58895115 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1654C>T (p.Gln552Ter) single nucleotide variant Joubert syndrome 23 [RCV003795302] Chr14:58458543 [GRCh38]
Chr14:58925261 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2262C>T (p.Thr754=) single nucleotide variant Joubert syndrome 23 [RCV003796099] Chr14:58467742 [GRCh38]
Chr14:58934460 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.147A>G (p.Ala49=) single nucleotide variant Joubert syndrome 23 [RCV003805626] Chr14:58428411 [GRCh38]
Chr14:58895129 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4496-3816C>T single nucleotide variant Joubert syndrome 23 [RCV003781680] Chr14:58543965 [GRCh38]
Chr14:59010683 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2257C>T (p.Gln753Ter) single nucleotide variant Joubert syndrome 23 [RCV003805690] Chr14:58467737 [GRCh38]
Chr14:58934455 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.340+14A>G single nucleotide variant Joubert syndrome 23 [RCV003805735] Chr14:58430731 [GRCh38]
Chr14:58897449 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.411-1448G>A single nucleotide variant Joubert syndrome 23 [RCV003806485] Chr14:58441258 [GRCh38]
Chr14:58907976 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3145-16G>A single nucleotide variant Joubert syndrome 23 [RCV003804884] Chr14:58486991 [GRCh38]
Chr14:58953709 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2016T>C (p.Pro672=) single nucleotide variant Joubert syndrome 23 [RCV003782117] Chr14:58461117 [GRCh38]
Chr14:58927835 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2634+1G>T single nucleotide variant Joubert syndrome 23 [RCV003785490] Chr14:58472280 [GRCh38]
Chr14:58938998 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.2907A>G (p.Ser969=) single nucleotide variant Joubert syndrome 23 [RCV003805227] Chr14:58477204 [GRCh38]
Chr14:58943922 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2961T>C (p.Ser987=) single nucleotide variant Joubert syndrome 23 [RCV003804556] Chr14:58482529 [GRCh38]
Chr14:58949247 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2953A>G (p.Thr985Ala) single nucleotide variant Joubert syndrome 23 [RCV003786444] Chr14:58482521 [GRCh38]
Chr14:58949239 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3123A>C (p.Ser1041=) single nucleotide variant Joubert syndrome 23 [RCV003806997] Chr14:58482691 [GRCh38]
Chr14:58949409 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2469C>T (p.Ser823=) single nucleotide variant Joubert syndrome 23 [RCV003784915] Chr14:58470639 [GRCh38]
Chr14:58937357 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2535T>A (p.Pro845=) single nucleotide variant Joubert syndrome 23 [RCV003790451] Chr14:58470705 [GRCh38]
Chr14:58937423 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.962-3A>C single nucleotide variant Joubert syndrome 23 [RCV003796704] Chr14:58450576 [GRCh38]
Chr14:58917294 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4482A>G (p.Thr1494=) single nucleotide variant Joubert syndrome 23 [RCV003791777] Chr14:58540123 [GRCh38]
Chr14:59006841 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3366T>G (p.Pro1122=) single nucleotide variant Joubert syndrome 23 [RCV003796657] Chr14:58487948 [GRCh38]
Chr14:58954666 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4371A>G (p.Pro1457=) single nucleotide variant Joubert syndrome 23 [RCV003796301] Chr14:58512569 [GRCh38]
Chr14:58979287 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.975A>G (p.Glu325=) single nucleotide variant Joubert syndrome 23 [RCV003796328] Chr14:58450592 [GRCh38]
Chr14:58917310 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1824T>C (p.His608=) single nucleotide variant Joubert syndrome 23 [RCV003800245] Chr14:58460010 [GRCh38]
Chr14:58926728 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.939dup (p.Asn314Ter) duplication Joubert syndrome 23 [RCV003809029] Chr14:58448470..58448471 [GRCh38]
Chr14:58915188..58915189 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.3173del (p.Pro1058fs) deletion Joubert syndrome 23 [RCV003810026] Chr14:58487032 [GRCh38]
Chr14:58953750 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.1377G>C (p.Leu459=) single nucleotide variant Joubert syndrome 23 [RCV003798838] Chr14:58457773 [GRCh38]
Chr14:58924491 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1085del (p.Asn362fs) deletion Joubert syndrome 23 [RCV003808018] Chr14:58450699 [GRCh38]
Chr14:58917417 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.2451C>T (p.Pro817=) single nucleotide variant Joubert syndrome 23 [RCV003799278] Chr14:58470621 [GRCh38]
Chr14:58937339 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.235C>T (p.Gln79Ter) single nucleotide variant Joubert syndrome 23 [RCV003809500] Chr14:58429398 [GRCh38]
Chr14:58896116 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4539C>G (p.Ala1513=) single nucleotide variant Joubert syndrome 23 [RCV003800102] Chr14:58547824 [GRCh38]
Chr14:59014542 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4506A>G (p.Ala1502=) single nucleotide variant Joubert syndrome 23 [RCV003807517] Chr14:58547791 [GRCh38]
Chr14:59014509 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2254+1G>T single nucleotide variant Joubert syndrome 23 [RCV003799280] Chr14:58466030 [GRCh38]
Chr14:58932748 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.811C>A (p.His271Asn) single nucleotide variant Joubert syndrome 23 [RCV003800163] Chr14:58448343 [GRCh38]
Chr14:58915061 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.271-1G>A single nucleotide variant Joubert syndrome 23 [RCV003797162] Chr14:58430647 [GRCh38]
Chr14:58897365 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.636T>C (p.Ser212=) single nucleotide variant Joubert syndrome 23 [RCV003798508] Chr14:58444004 [GRCh38]
Chr14:58910722 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1129+20G>C single nucleotide variant Joubert syndrome 23 [RCV003800320] Chr14:58450766 [GRCh38]
Chr14:58917484 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2280C>T (p.Thr760=) single nucleotide variant Joubert syndrome 23 [RCV003800416] Chr14:58467760 [GRCh38]
Chr14:58934478 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1450T>C (p.Leu484=) single nucleotide variant Joubert syndrome 23 [RCV003801063] Chr14:58457846 [GRCh38]
Chr14:58924564 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2976T>A (p.Leu992=) single nucleotide variant Joubert syndrome 23 [RCV003801230] Chr14:58482544 [GRCh38]
Chr14:58949262 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+3796G>T single nucleotide variant Joubert syndrome 23 [RCV003801398] Chr14:58543932 [GRCh38]
Chr14:59010650 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4495+3730T>G single nucleotide variant Joubert syndrome 23 [RCV003797596] Chr14:58543866 [GRCh38]
Chr14:59010584 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3990+19G>A single nucleotide variant Joubert syndrome 23 [RCV003808993] Chr14:58492294 [GRCh38]
Chr14:58959012 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3858+16C>T single nucleotide variant Joubert syndrome 23 [RCV003810105] Chr14:58490256 [GRCh38]
Chr14:58956974 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3144+2T>C single nucleotide variant Joubert syndrome 23 [RCV003800804] Chr14:58482714 [GRCh38]
Chr14:58949432 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.3991-1G>A single nucleotide variant Joubert syndrome 23 [RCV003798301] Chr14:58498782 [GRCh38]
Chr14:58965500 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.1584-18C>A single nucleotide variant Joubert syndrome 23 [RCV003810527] Chr14:58458455 [GRCh38]
Chr14:58925173 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2945-9del deletion Joubert syndrome 23 [RCV003798318] Chr14:58482493 [GRCh38]
Chr14:58949211 [GRCh37]
Chr14:14q23.1		 benign
NM_001329943.3(KIAA0586):c.2991T>C (p.Gly997=) single nucleotide variant Joubert syndrome 23 [RCV003797941] Chr14:58482559 [GRCh38]
Chr14:58949277 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.2037A>G (p.Pro679=) single nucleotide variant Joubert syndrome 23 [RCV003808637] Chr14:58461138 [GRCh38]
Chr14:58927856 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.3381A>C (p.Ala1127=) single nucleotide variant Joubert syndrome 23 [RCV003797772] Chr14:58487963 [GRCh38]
Chr14:58954681 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4012G>T (p.Glu1338Ter) single nucleotide variant Joubert syndrome 23 [RCV003817867] Chr14:58498804 [GRCh38]
Chr14:58965522 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.3481G>T (p.Glu1161Ter) single nucleotide variant Joubert syndrome 23 [RCV003801627] Chr14:58488063 [GRCh38]
Chr14:58954781 [GRCh37]
Chr14:14q23.1		 pathogenic
NM_001329943.3(KIAA0586):c.4495+3726_4495+3732del deletion Joubert syndrome 23 [RCV003801999] Chr14:58543859..58543865 [GRCh38]
Chr14:59010577..59010583 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1130-16A>G single nucleotide variant Joubert syndrome 23 [RCV003815674] Chr14:58453334 [GRCh38]
Chr14:58920052 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1149A>G (p.Glu383=) single nucleotide variant Joubert syndrome 23 [RCV003812332] Chr14:58453369 [GRCh38]
Chr14:58920087 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4324-6A>G single nucleotide variant Joubert syndrome 23 [RCV003815531] Chr14:58512516 [GRCh38]
Chr14:58979234 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1861A>G (p.Ser621Gly) single nucleotide variant Joubert syndrome 23 [RCV003802823] Chr14:58460047 [GRCh38]
Chr14:58926765 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.1130-20C>G single nucleotide variant Joubert syndrome 23 [RCV003803258] Chr14:58453330 [GRCh38]
Chr14:58920048 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.930A>G (p.Pro310=) single nucleotide variant Joubert syndrome 23 [RCV003802732] Chr14:58448462 [GRCh38]
Chr14:58915180 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.4502A>G (p.Lys1501Arg) single nucleotide variant Joubert syndrome 23 [RCV003803151] Chr14:58547787 [GRCh38]
Chr14:59014505 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.136G>A (p.Ala46Thr) single nucleotide variant not provided [RCV003542576] Chr14:58428400 [GRCh38]
Chr14:58895118 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3034G>T (p.Ala1012Ser) single nucleotide variant not provided [RCV003542579] Chr14:58482602 [GRCh38]
Chr14:58949320 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.3304+14_3304+19del deletion Joubert syndrome 23 [RCV003803480] Chr14:58487177..58487182 [GRCh38]
Chr14:58953895..58953900 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1515G>A (p.Leu505=) single nucleotide variant Joubert syndrome 23 [RCV003803659] Chr14:58457911 [GRCh38]
Chr14:58924629 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1881G>A (p.Lys627=) single nucleotide variant Joubert syndrome 23 [RCV003802403] Chr14:58460067 [GRCh38]
Chr14:58926785 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.-1T>C single nucleotide variant Joubert syndrome 23 [RCV003803172] Chr14:58428264 [GRCh38]
Chr14:58894982 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001244189.2(KIAA0586):c.9+10T>C single nucleotide variant KIAA0586-related condition [RCV003944419] Chr14:58427647 [GRCh38]
Chr14:58894365 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2690G>C (p.Arg897Thr) single nucleotide variant KIAA0586-related condition [RCV003982638] Chr14:58474662 [GRCh38]
Chr14:58941380 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.2854_2855insG (p.Ile952fs) insertion Familial aplasia of the vermis [RCV004018288] Chr14:58477151..58477152 [GRCh38]
Chr14:58943869..58943870 [GRCh37]
Chr14:14q23.1		 likely pathogenic
NM_001329943.3(KIAA0586):c.1294A>G (p.Met432Val) single nucleotide variant Inborn genetic diseases [RCV004411455] Chr14:58456742 [GRCh38]
Chr14:58923460 [GRCh37]
Chr14:14q23.1		 likely benign
NM_001329943.3(KIAA0586):c.1970G>A (p.Ser657Asn) single nucleotide variant Inborn genetic diseases [RCV004411456] Chr14:58461071 [GRCh38]
Chr14:58927789 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.320A>G (p.Glu107Gly) single nucleotide variant Inborn genetic diseases [RCV004411458] Chr14:58430697 [GRCh38]
Chr14:58897415 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4043C>A (p.Thr1348Lys) single nucleotide variant Inborn genetic diseases [RCV004411459] Chr14:58498835 [GRCh38]
Chr14:58965553 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4270A>T (p.Thr1424Ser) single nucleotide variant Inborn genetic diseases [RCV004411460] Chr14:58508656 [GRCh38]
Chr14:58975374 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4363C>A (p.His1455Asn) single nucleotide variant Inborn genetic diseases [RCV004411461] Chr14:58512561 [GRCh38]
Chr14:58979279 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4364A>T (p.His1455Leu) single nucleotide variant Inborn genetic diseases [RCV004411462] Chr14:58512562 [GRCh38]
Chr14:58979280 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.4385T>G (p.Leu1462Arg) single nucleotide variant Inborn genetic diseases [RCV004411463] Chr14:58512583 [GRCh38]
Chr14:58979301 [GRCh37]
Chr14:14q23.1		 uncertain significance
NM_001329943.3(KIAA0586):c.923G>A (p.Cys308Tyr) single nucleotide variant Inborn genetic diseases [RCV004411465] Chr14:58448455 [GRCh38]
Chr14:58915173 [GRCh37]
Chr14:14q23.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1262
Count of miRNA genes:677
Interacting mature miRNAs:741
Transcripts:ENST00000261244, ENST00000354386, ENST00000423743, ENST00000538571, ENST00000554463, ENST00000555203, ENST00000555397, ENST00000555833, ENST00000556134, ENST00000556235, ENST00000557192, ENST00000557392, ENST00000557590
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D14S575  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371458,913,503 - 58,913,804UniSTSGRCh37
Build 361457,983,256 - 57,983,557RGDNCBI36
Celera1438,963,478 - 38,963,779RGD
Cytogenetic Map14q23.1UniSTS
HuRef1439,077,879 - 39,078,180UniSTS
Stanford-G3 RH Map141931.0UniSTS
Whitehead-YAC Contig Map14 UniSTS
NCBI RH Map14597.5UniSTS
RH41809  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371458,930,873 - 58,931,089UniSTSGRCh37
Build 361458,000,626 - 58,000,842RGDNCBI36
Celera1438,980,841 - 38,981,059RGD
Cytogenetic Map16q23.3UniSTS
Cytogenetic Map14q23.1UniSTS
HuRef1439,095,237 - 39,095,455UniSTS
D14S696E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371459,014,602 - 59,014,726UniSTSGRCh37
Build 361458,084,355 - 58,084,479RGDNCBI36
Celera1439,064,594 - 39,064,718RGD
Cytogenetic Map14q23.1UniSTS
HuRef1439,178,989 - 39,179,113UniSTS
G35653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371458,965,668 - 58,965,859UniSTSGRCh37
Build 361458,035,421 - 58,035,612RGDNCBI36
Celera1439,015,659 - 39,015,850RGD
Cytogenetic Map14q23.1UniSTS
HuRef1439,130,053 - 39,130,244UniSTS
WI-20905  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371459,014,513 - 59,014,802UniSTSGRCh37
Build 361458,084,266 - 58,084,555RGDNCBI36
Celera1439,064,505 - 39,064,794RGD
Cytogenetic Map14q23.1UniSTS
HuRef1439,178,900 - 39,179,189UniSTS
GeneMap99-GB4 RH Map14134.11UniSTS
Whitehead-RH Map14196.5UniSTS
NCBI RH Map14633.1UniSTS
G36197  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371458,968,648 - 58,968,803UniSTSGRCh37
Build 361458,038,401 - 58,038,556RGDNCBI36
Celera1439,018,643 - 39,018,798RGD
Cytogenetic Map14q23.1UniSTS
HuRef1439,133,038 - 39,133,193UniSTS
RH15628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371459,014,586 - 59,014,718UniSTSGRCh37
Build 361458,084,339 - 58,084,471RGDNCBI36
Celera1439,064,578 - 39,064,710RGD
Cytogenetic Map14q23.1UniSTS
HuRef1439,178,973 - 39,179,105UniSTS
GeneMap99-GB4 RH Map14134.31UniSTS
G30978  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371459,015,053 - 59,015,191UniSTSGRCh37
Build 361458,084,806 - 58,084,944RGDNCBI36
Celera1439,065,045 - 39,065,183RGD
Cytogenetic Map14q23.1UniSTS
HuRef1439,179,440 - 39,179,578UniSTS
G36042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371459,009,399 - 59,009,520UniSTSGRCh37
Build 361458,079,152 - 58,079,273RGDNCBI36
Celera1439,059,391 - 39,059,512RGD
Cytogenetic Map14q23.1UniSTS
HuRef1439,173,786 - 39,173,907UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 48 8 24 12 549 12 190 44 99 34 441 145 6 1
Low 2384 2770 1698 610 1269 450 4164 2083 3585 383 1007 1463 166 1204 2787 5 2
Below cutoff 4 208 4 2 133 3 1 69 47 2 10 3 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_051335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001244189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001244190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001244191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001244192 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001244193 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001329947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014749 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449782 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449783 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449784 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449785 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432011 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432012 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432013 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047432015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377121 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377122 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377127 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377128 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI223212 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI378482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK126155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK302836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL042761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139021 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066647 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX097526 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN281643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN308043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB271535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC348119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF548045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261244   ⟹   ENSP00000261244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,990 - 58,548,045 (+)Ensembl
RefSeq Acc Id: ENST00000354386   ⟹   ENSP00000346359
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,385 - 58,548,023 (+)Ensembl
RefSeq Acc Id: ENST00000423743   ⟹   ENSP00000399427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,436 - 58,548,498 (+)Ensembl
RefSeq Acc Id: ENST00000538571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,442,706 - 58,537,219 (+)Ensembl
RefSeq Acc Id: ENST00000554463   ⟹   ENSP00000451831
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,728 - 58,444,019 (+)Ensembl
RefSeq Acc Id: ENST00000555203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,439,681 - 58,448,380 (+)Ensembl
RefSeq Acc Id: ENST00000555397   ⟹   ENSP00000451356
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,490,205 - 58,548,119 (+)Ensembl
RefSeq Acc Id: ENST00000555833   ⟹   ENSP00000450855
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,728 - 58,448,491 (+)Ensembl
RefSeq Acc Id: ENST00000556134   ⟹   ENSP00000452351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,385 - 58,548,828 (+)Ensembl
RefSeq Acc Id: ENST00000556235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,539,867 - 58,548,054 (+)Ensembl
RefSeq Acc Id: ENST00000557192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,722 - 58,441,280 (+)Ensembl
RefSeq Acc Id: ENST00000557392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,508,571 - 58,521,200 (+)Ensembl
RefSeq Acc Id: ENST00000557590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,440,971 - 58,444,047 (+)Ensembl
RefSeq Acc Id: ENST00000619416   ⟹   ENSP00000478083
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,402 - 58,551,289 (+)Ensembl
RefSeq Acc Id: ENST00000619722   ⟹   ENSP00000481936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,426 - 58,548,036 (+)Ensembl
RefSeq Acc Id: ENST00000650845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,719 - 58,522,247 (+)Ensembl
RefSeq Acc Id: ENST00000650904   ⟹   ENSP00000498606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,693 - 58,548,736 (+)Ensembl
RefSeq Acc Id: ENST00000651596   ⟹   ENSP00000498838
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,487,113 - 58,499,082 (+)Ensembl
RefSeq Acc Id: ENST00000651759   ⟹   ENSP00000498415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,456,700 - 58,522,162 (+)Ensembl
RefSeq Acc Id: ENST00000651852   ⟹   ENSP00000498990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,470,652 - 58,548,790 (+)Ensembl
RefSeq Acc Id: ENST00000651937   ⟹   ENSP00000498785
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,733 - 58,548,358 (+)Ensembl
RefSeq Acc Id: ENST00000652120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,439,702 - 58,459,876 (+)Ensembl
RefSeq Acc Id: ENST00000652326   ⟹   ENSP00000498929
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,719 - 58,551,297 (+)Ensembl
RefSeq Acc Id: ENST00000652414   ⟹   ENSP00000498397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,460,998 - 58,515,822 (+)Ensembl
RefSeq Acc Id: ENST00000652732   ⟹   ENSP00000498799
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,427,684 - 58,514,795 (+)Ensembl
RefSeq Acc Id: ENST00000674802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,430,146 - 58,445,117 (+)Ensembl
RefSeq Acc Id: ENST00000676447
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1458,448,392 - 58,457,278 (+)Ensembl
RefSeq Acc Id: NM_001244189   ⟹   NP_001231118
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,400 - 58,551,297 (+)NCBI
GRCh371458,894,103 - 59,015,549 (+)NCBI
HuRef1439,058,725 - 39,179,936 (+)NCBI
CHM1_11458,832,650 - 58,954,044 (+)NCBI
T2T-CHM13v2.01452,634,436 - 52,758,340 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001244190   ⟹   NP_001231119
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,400 - 58,551,297 (+)NCBI
GRCh371458,894,103 - 59,015,549 (+)NCBI
HuRef1439,058,725 - 39,179,936 (+)NCBI
CHM1_11458,832,650 - 58,954,044 (+)NCBI
T2T-CHM13v2.01452,634,436 - 52,758,340 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001244191   ⟹   NP_001231120
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,400 - 58,551,297 (+)NCBI
GRCh371458,894,103 - 59,015,549 (+)NCBI
HuRef1439,058,725 - 39,179,936 (+)NCBI
CHM1_11458,832,650 - 58,954,044 (+)NCBI
T2T-CHM13v2.01452,634,436 - 52,758,340 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001244192   ⟹   NP_001231121
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,400 - 58,551,297 (+)NCBI
GRCh371458,894,103 - 59,015,549 (+)NCBI
HuRef1439,058,725 - 39,179,936 (+)NCBI
CHM1_11458,832,650 - 58,954,044 (+)NCBI
T2T-CHM13v2.01452,634,436 - 52,758,340 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001244193   ⟹   NP_001231122
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,439,681 - 58,537,213 (+)NCBI
GRCh371458,894,103 - 59,015,549 (+)NCBI
HuRef1439,058,725 - 39,179,936 (+)NCBI
CHM1_11458,844,945 - 58,942,424 (+)NCBI
T2T-CHM13v2.01452,646,715 - 52,744,254 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329943   ⟹   NP_001316872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329944   ⟹   NP_001316873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329945   ⟹   NP_001316874
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329946   ⟹   NP_001316875
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001329947   ⟹   NP_001316876
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364700   ⟹   NP_001351629
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,515,822 (+)NCBI
T2T-CHM13v2.01452,634,755 - 52,722,866 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364701   ⟹   NP_001351630
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014749   ⟹   NP_055564
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
GRCh371458,894,103 - 59,015,549 (+)NCBI
Build 361457,964,463 - 58,085,302 (+)NCBI Archive
Celera1438,944,687 - 39,065,541 (+)RGD
HuRef1439,058,725 - 39,179,936 (+)NCBI
CHM1_11458,833,257 - 58,954,044 (+)NCBI
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449779   ⟹   XP_024305547
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449780   ⟹   XP_024305548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449781   ⟹   XP_024305549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449787   ⟹   XP_024305555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,439,470 - 58,551,297 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024449791   ⟹   XP_024305559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047432000   ⟹   XP_047287956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
RefSeq Acc Id: XM_047432001   ⟹   XP_047287957
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
RefSeq Acc Id: XM_047432002   ⟹   XP_047287958
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
RefSeq Acc Id: XM_047432003   ⟹   XP_047287959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
RefSeq Acc Id: XM_047432004   ⟹   XP_047287960
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,537,213 (+)NCBI
RefSeq Acc Id: XM_047432005   ⟹   XP_047287961
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,515,822 (+)NCBI
RefSeq Acc Id: XM_047432006   ⟹   XP_047287962
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
RefSeq Acc Id: XM_047432007   ⟹   XP_047287963
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,522,273 (+)NCBI
RefSeq Acc Id: XM_047432008   ⟹   XP_047287964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,522,273 (+)NCBI
RefSeq Acc Id: XM_047432009   ⟹   XP_047287965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,562,090 (+)NCBI
RefSeq Acc Id: XM_047432010   ⟹   XP_047287966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,537,213 (+)NCBI
RefSeq Acc Id: XM_047432011   ⟹   XP_047287967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,515,822 (+)NCBI
RefSeq Acc Id: XM_047432012   ⟹   XP_047287968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,551,297 (+)NCBI
RefSeq Acc Id: XM_047432013   ⟹   XP_047287969
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,522,273 (+)NCBI
RefSeq Acc Id: XM_047432014   ⟹   XP_047287970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,522,273 (+)NCBI
RefSeq Acc Id: XM_047432015   ⟹   XP_047287971
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,719 - 58,515,822 (+)NCBI
RefSeq Acc Id: XM_054377116   ⟹   XP_054233091
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
RefSeq Acc Id: XM_054377117   ⟹   XP_054233092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
RefSeq Acc Id: XM_054377118   ⟹   XP_054233093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
RefSeq Acc Id: XM_054377119   ⟹   XP_054233094
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
RefSeq Acc Id: XM_054377120   ⟹   XP_054233095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
RefSeq Acc Id: XM_054377121   ⟹   XP_054233096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,732 - 52,758,340 (+)NCBI
RefSeq Acc Id: XM_054377122   ⟹   XP_054233097
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
RefSeq Acc Id: XM_054377123   ⟹   XP_054233098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,744,254 (+)NCBI
RefSeq Acc Id: XM_054377124   ⟹   XP_054233099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,722,866 (+)NCBI
RefSeq Acc Id: XM_054377125   ⟹   XP_054233100
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
RefSeq Acc Id: XM_054377126   ⟹   XP_054233101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,729,687 (+)NCBI
RefSeq Acc Id: XM_054377127   ⟹   XP_054233102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,729,687 (+)NCBI
RefSeq Acc Id: XM_054377128   ⟹   XP_054233103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,767,919 (+)NCBI
RefSeq Acc Id: XM_054377129   ⟹   XP_054233104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,744,254 (+)NCBI
RefSeq Acc Id: XM_054377130   ⟹   XP_054233105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,722,866 (+)NCBI
RefSeq Acc Id: XM_054377131   ⟹   XP_054233106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
RefSeq Acc Id: XM_054377132   ⟹   XP_054233107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,729,687 (+)NCBI
RefSeq Acc Id: XM_054377133   ⟹   XP_054233108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,729,687 (+)NCBI
RefSeq Acc Id: XM_054377134   ⟹   XP_054233109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,646,504 - 52,758,340 (+)NCBI
RefSeq Acc Id: XM_054377135   ⟹   XP_054233110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,722,866 (+)NCBI
RefSeq Acc Id: XM_054377136   ⟹   XP_054233111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01452,634,755 - 52,758,340 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001231118 (Get FASTA)   NCBI Sequence Viewer  
  NP_001231119 (Get FASTA)   NCBI Sequence Viewer  
  NP_001231120 (Get FASTA)   NCBI Sequence Viewer  
  NP_001231121 (Get FASTA)   NCBI Sequence Viewer  
  NP_001231122 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316872 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316873 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316874 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316875 (Get FASTA)   NCBI Sequence Viewer  
  NP_001316876 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351629 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351630 (Get FASTA)   NCBI Sequence Viewer  
  NP_055564 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305547 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305548 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305549 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305555 (Get FASTA)   NCBI Sequence Viewer  
  XP_024305559 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287956 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287957 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287958 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287959 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287960 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287961 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287962 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287963 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287964 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287965 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287966 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287967 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287968 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287969 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287970 (Get FASTA)   NCBI Sequence Viewer  
  XP_047287971 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233091 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233092 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233093 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233094 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233095 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233096 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233097 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233098 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233099 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233100 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233101 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233102 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233103 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233104 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233105 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233106 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233107 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233108 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233109 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233110 (Get FASTA)   NCBI Sequence Viewer  
  XP_054233111 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH00900 (Get FASTA)   NCBI Sequence Viewer  
  AAH66647 (Get FASTA)   NCBI Sequence Viewer  
  AAQ63404 (Get FASTA)   NCBI Sequence Viewer  
  BAA25512 (Get FASTA)   NCBI Sequence Viewer  
  BAG63877 (Get FASTA)   NCBI Sequence Viewer  
  BAG63938 (Get FASTA)   NCBI Sequence Viewer  
  BAG64028 (Get FASTA)   NCBI Sequence Viewer  
  BAH13753 (Get FASTA)   NCBI Sequence Viewer  
  CCO13756 (Get FASTA)   NCBI Sequence Viewer  
  EAW80739 (Get FASTA)   NCBI Sequence Viewer  
  EAW80740 (Get FASTA)   NCBI Sequence Viewer  
  EAW80741 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000261244
  ENSP00000261244.5
  ENSP00000346359
  ENSP00000346359.6
  ENSP00000399427
  ENSP00000399427.3
  ENSP00000450855.1
  ENSP00000451356.1
  ENSP00000451831.1
  ENSP00000478083
  ENSP00000478083.1
  ENSP00000481936
  ENSP00000481936.1
  ENSP00000498397.1
  ENSP00000498415.1
  ENSP00000498606.1
  ENSP00000498785.1
  ENSP00000498799.1
  ENSP00000498838.1
  ENSP00000498929
  ENSP00000498929.1
  ENSP00000498990.1
GenBank Protein Q9BVV6 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_055564   ⟸   NM_014749
- Peptide Label: isoform 5
- UniProtKB: A0A494C0M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001231118   ⟸   NM_001244189
- Peptide Label: isoform 1
- UniProtKB: A0A494C0M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001231119   ⟸   NM_001244190
- Peptide Label: isoform 2
- UniProtKB: Q6NYC6 (UniProtKB/Swiss-Prot),   O60328 (UniProtKB/Swiss-Prot),   J3KQH9 (UniProtKB/Swiss-Prot),   E7EWM8 (UniProtKB/Swiss-Prot),   B4DZB6 (UniProtKB/Swiss-Prot),   Q6UV20 (UniProtKB/Swiss-Prot),   Q9BVV6 (UniProtKB/Swiss-Prot),   A0A494C0M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001231121   ⟸   NM_001244192
- Peptide Label: isoform 4
- UniProtKB: B4DYW5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001231120   ⟸   NM_001244191
- Peptide Label: isoform 3
- UniProtKB: A0A087WYM5 (UniProtKB/TrEMBL),   B4DYW5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001231122   ⟸   NM_001244193
- Peptide Label: isoform 6
- UniProtKB: B7Z7W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305547   ⟸   XM_024449779
- Peptide Label: isoform X1
- UniProtKB: A0A494C0M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305549   ⟸   XM_024449781
- Peptide Label: isoform X3
- UniProtKB: A0A494C0M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305548   ⟸   XM_024449780
- Peptide Label: isoform X2
- UniProtKB: A0A494C0M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305559   ⟸   XM_024449791
- Peptide Label: isoform X21
- UniProtKB: A0A494C0M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316873   ⟸   NM_001329944
- Peptide Label: isoform 8
- UniProtKB: A0A494C0M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316872   ⟸   NM_001329943
- Peptide Label: isoform 7
- UniProtKB: A0A494C171 (UniProtKB/TrEMBL),   A0A494C0M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316875   ⟸   NM_001329946
- Peptide Label: isoform 10
- UniProtKB: A0A494C0M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316876   ⟸   NM_001329947
- Peptide Label: isoform 11
- UniProtKB: A0A494C0M8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001316874   ⟸   NM_001329945
- Peptide Label: isoform 9
- UniProtKB: B4DYW5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024305555   ⟸   XM_024449787
- Peptide Label: isoform X19
- UniProtKB: B7Z7W7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001351630   ⟸   NM_001364701
- Peptide Label: isoform 3
- UniProtKB: A0A087WYM5 (UniProtKB/TrEMBL),   B4DYW5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001351629   ⟸   NM_001364700
- Peptide Label: isoform 12
- UniProtKB: B7Z7W7 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000450855   ⟸   ENST00000555833
RefSeq Acc Id: ENSP00000399427   ⟸   ENST00000423743
RefSeq Acc Id: ENSP00000451356   ⟸   ENST00000555397
RefSeq Acc Id: ENSP00000452351   ⟸   ENST00000556134
RefSeq Acc Id: ENSP00000498606   ⟸   ENST00000650904
RefSeq Acc Id: ENSP00000498990   ⟸   ENST00000651852
RefSeq Acc Id: ENSP00000498415   ⟸   ENST00000651759
RefSeq Acc Id: ENSP00000498838   ⟸   ENST00000651596
RefSeq Acc Id: ENSP00000498785   ⟸   ENST00000651937
RefSeq Acc Id: ENSP00000498799   ⟸   ENST00000652732
RefSeq Acc Id: ENSP00000498397   ⟸   ENST00000652414
RefSeq Acc Id: ENSP00000498929   ⟸   ENST00000652326
RefSeq Acc Id: ENSP00000346359   ⟸   ENST00000354386
RefSeq Acc Id: ENSP00000261244   ⟸   ENST00000261244
RefSeq Acc Id: ENSP00000478083   ⟸   ENST00000619416
RefSeq Acc Id: ENSP00000481936   ⟸   ENST00000619722
RefSeq Acc Id: ENSP00000451831   ⟸   ENST00000554463
RefSeq Acc Id: XP_047287965   ⟸   XM_047432009
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047287956   ⟸   XM_047432000
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047287959   ⟸   XM_047432003
- Peptide Label: isoform X7
RefSeq Acc Id: XP_047287962   ⟸   XM_047432006
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047287957   ⟸   XM_047432001
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047287968   ⟸   XM_047432012
- Peptide Label: isoform X16
RefSeq Acc Id: XP_047287958   ⟸   XM_047432002
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047287960   ⟸   XM_047432004
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047287966   ⟸   XM_047432010
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047287963   ⟸   XM_047432007
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047287969   ⟸   XM_047432013
- Peptide Label: isoform X17
RefSeq Acc Id: XP_047287964   ⟸   XM_047432008
- Peptide Label: isoform X12
RefSeq Acc Id: XP_047287970   ⟸   XM_047432014
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047287961   ⟸   XM_047432005
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047287967   ⟸   XM_047432011
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047287971   ⟸   XM_047432015
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054233096   ⟸   XM_054377121
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054233103   ⟸   XM_054377128
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054233091   ⟸   XM_054377116
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054233093   ⟸   XM_054377118
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054233094   ⟸   XM_054377119
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054233097   ⟸   XM_054377122
- Peptide Label: isoform X7
RefSeq Acc Id: XP_054233100   ⟸   XM_054377125
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054233092   ⟸   XM_054377117
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054233111   ⟸   XM_054377136
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054233095   ⟸   XM_054377120
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054233106   ⟸   XM_054377131
- Peptide Label: isoform X16
RefSeq Acc Id: XP_054233098   ⟸   XM_054377123
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054233104   ⟸   XM_054377129
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054233101   ⟸   XM_054377126
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054233107   ⟸   XM_054377132
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054233102   ⟸   XM_054377127
- Peptide Label: isoform X12
RefSeq Acc Id: XP_054233108   ⟸   XM_054377133
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054233099   ⟸   XM_054377124
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054233105   ⟸   XM_054377130
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054233110   ⟸   XM_054377135
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054233109   ⟸   XM_054377134
- Peptide Label: isoform X19

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9BVV6-F1-model_v2 AlphaFold Q9BVV6 1-1533 view protein structure

Promoters
RGD ID:6791695
Promoter ID:HG_KWN:19482
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000261244,   NM_014749,   UC001XDT.2,   UC001XDU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361457,963,501 - 57,964,877 (+)MPROMDB
RGD ID:7227739
Promoter ID:EPDNEW_H19616
Type:initiation region
Name:KIAA0586_3
Description:KIAA0586
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19618  EPDNEW_H19619  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,429 - 58,427,489EPDNEW
RGD ID:7227745
Promoter ID:EPDNEW_H19618
Type:initiation region
Name:KIAA0586_1
Description:KIAA0586
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19616  EPDNEW_H19619  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,728 - 58,427,788EPDNEW
RGD ID:7227747
Promoter ID:EPDNEW_H19619
Type:initiation region
Name:KIAA0586_2
Description:KIAA0586
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19616  EPDNEW_H19618  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381458,427,994 - 58,428,054EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:19960 AgrOrtholog
COSMIC KIAA0586 COSMIC
Ensembl Genes ENSG00000100578 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261244 ENTREZGENE
  ENST00000261244.9 UniProtKB/Swiss-Prot
  ENST00000354386 ENTREZGENE
  ENST00000354386.10 UniProtKB/Swiss-Prot
  ENST00000423743 ENTREZGENE
  ENST00000423743.7 UniProtKB/Swiss-Prot
  ENST00000538571 ENTREZGENE
  ENST00000554463.5 UniProtKB/TrEMBL
  ENST00000555397.1 UniProtKB/TrEMBL
  ENST00000555833.5 UniProtKB/TrEMBL
  ENST00000619416 ENTREZGENE
  ENST00000619416.4 UniProtKB/Swiss-Prot
  ENST00000619722 ENTREZGENE
  ENST00000619722.5 UniProtKB/TrEMBL
  ENST00000650845 ENTREZGENE
  ENST00000650904.1 UniProtKB/TrEMBL
  ENST00000651596.1 UniProtKB/TrEMBL
  ENST00000651759.1 UniProtKB/TrEMBL
  ENST00000651852.1 UniProtKB/TrEMBL
  ENST00000651937.1 UniProtKB/TrEMBL
  ENST00000652326 ENTREZGENE
  ENST00000652326.2 UniProtKB/TrEMBL
  ENST00000652414.1 UniProtKB/TrEMBL
  ENST00000652732.1 UniProtKB/TrEMBL
GTEx ENSG00000100578 GTEx
HGNC ID HGNC:19960 ENTREZGENE
Human Proteome Map KIAA0586 Human Proteome Map
InterPro TALPID3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9786 UniProtKB/Swiss-Prot
NCBI Gene 9786 ENTREZGENE
OMIM 610178 OMIM
PANTHER PROTEIN TALPID3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR15721 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TALPID3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134992213 PharmGKB
PRINTS F138DOMAIN UniProtKB/TrEMBL
UniProt A0A087WYM5 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C058_HUMAN UniProtKB/TrEMBL
  A0A494C075_HUMAN UniProtKB/TrEMBL
  A0A494C0M8 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C0Z1_HUMAN UniProtKB/TrEMBL
  A0A494C110_HUMAN UniProtKB/TrEMBL
  A0A494C133_HUMAN UniProtKB/TrEMBL
  A0A494C171 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C1C3_HUMAN UniProtKB/TrEMBL
  B4DYW5 ENTREZGENE, UniProtKB/TrEMBL
  B4DZB6 ENTREZGENE
  B7Z7W7 ENTREZGENE, UniProtKB/TrEMBL
  E7EWM8 ENTREZGENE
  G3V2T5_HUMAN UniProtKB/TrEMBL
  G3V4J0_HUMAN UniProtKB/TrEMBL
  H0YJF0_HUMAN UniProtKB/TrEMBL
  J3KQH9 ENTREZGENE
  L0R885_HUMAN UniProtKB/TrEMBL
  O60328 ENTREZGENE
  Q6NYC6 ENTREZGENE
  Q6UV20 ENTREZGENE
  Q9BVV6 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DZB6 UniProtKB/Swiss-Prot
  E7EWM8 UniProtKB/Swiss-Prot
  J3KQH9 UniProtKB/Swiss-Prot
  O60328 UniProtKB/Swiss-Prot
  Q6NYC6 UniProtKB/Swiss-Prot
  Q6UV20 UniProtKB/Swiss-Prot