CSPP1 (centrosome and spindle pole associated protein 1) - Rat Genome Database

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Gene: CSPP1 (centrosome and spindle pole associated protein 1) Homo sapiens
Analyze
Symbol: CSPP1
Name: centrosome and spindle pole associated protein 1
RGD ID: 1605630
HGNC Page HGNC:26193
Description: Involved in positive regulation of cytokinesis. Located in microtubule cytoskeleton and nucleoplasm. Implicated in Joubert syndrome 21.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: centrosome and spindle pole-associated protein 1; centrosome spindle pole associated protein; CSPP; CSPP-L; FLJ22490; FLJ38886; JBTS21
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
GRCh38867,064,368 - 67,196,614 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl867,062,417 - 67,196,778 (+)Ensemblhg38GRCh38
GRCh37867,976,603 - 68,108,849 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36868,139,157 - 68,271,052 (+)NCBIBuild 36Build 36hg18NCBI36
Celera863,969,919 - 64,102,249 (+)NCBICelera
Cytogenetic Map8q13.1-q13.2NCBI
HuRef863,469,182 - 63,600,778 (+)NCBIHuRef
CHM1_1868,031,912 - 68,164,861 (+)NCBICHM1_1
T2T-CHM13v2.0867,488,869 - 67,623,074 (+)NCBIT2T-CHM13v2.0
JBrowse:




Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2,4-trichloro-5-(2,5-dichlorophenyl)benzene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1,3-dinitrobenzene  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,4'-trichlorobiphenyl  (ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
azoxystrobin  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
Benzo[ghi]perylene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
copper(II) sulfate  (EXP)
coumarin  (EXP)
diarsenic trioxide  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
FR900359  (EXP)
genistein  (ISO)
glyphosate  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP)
imidacloprid  (ISO)
indometacin  (EXP)
lead(0)  (EXP)
methapyrilene  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
N,N-diethyl-m-toluamide  (ISO)
oxaliplatin  (ISO)
ozone  (EXP)
paracetamol  (ISO)
PCB138  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
SB 431542  (EXP)
selenium atom  (EXP)
sodium arsenite  (ISO)
sunitinib  (EXP)
tacrine  (ISO)
thiabendazole  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
tungsten  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cell projection  (IEA)
centriolar satellite  (IDA)
centrosome  (IBA,IDA,IEA)
ciliary basal body  (IDA)
cilium  (IDA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
microtubule  (IEA)
nucleoplasm  (IDA)
spindle  (IDA,IEA)
spindle pole  (IBA,IDA,IEA)

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 chorioretinal 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 neuronal migration  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Absent septum pellucidum  (IAGP)
Absent speech  (IAGP)
Accessory spleen  (IAGP)
Aganglionic megacolon  (IAGP)
Ambiguous genitalia  (IAGP)
Anencephaly  (IAGP)
Anophthalmia  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia involving bones of the thorax  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the tongue  (IAGP)
Apnea  (IAGP)
Asplenia  (IAGP)
Ataxia  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bell-shaped thorax  (IAGP)
Biparietal narrowing  (IAGP)
Bowing of the long bones  (IAGP)
Brachydactyly  (IAGP)
Cataract  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cervical spinal canal stenosis  (IAGP)
Chronic lung disease  (IAGP)
Chronic sinusitis  (IAGP)
Cleft palate  (IAGP)
Colpocephaly  (IAGP)
Cone-shaped epiphysis  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Cystic liver disease  (IAGP)
Dandy-Walker malformation  (IAGP)
Depressed nasal bridge  (IAGP)
Depressed nasal ridge  (IAGP)
Dilated third ventricle  (IAGP)
Duane anomaly  (IAGP)
Dysgenesis of the cerebellar vermis  (IAGP)
Dysphagia  (IAGP)
Dyspnea  (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)
Full cheeks  (IAGP)
Furrowed tongue  (IAGP)
Gait disturbance  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Hand polydactyly  (IAGP)
Highly arched eyebrow  (IAGP)
Hydrocephalus  (IAGP)
Hyperechogenic kidneys  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypospadias  (IAGP)
Hypotonia  (IAGP)
Increased intracranial pressure  (IAGP)
Intellectual disability  (IAGP)
Iris coloboma  (IAGP)
Lateral ventricle dilatation  (IAGP)
Lobar holoprosencephaly  (IAGP)
Long clavicles  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Male pseudohermaphroditism  (IAGP)
Megalopapilla  (IAGP)
Meningocele  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Molar tooth sign on MRI  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Myopia  (IAGP)
Nystagmus  (IAGP)
Occipital encephalocele  (IAGP)
Oculomotor apraxia  (IAGP)
Oligohydramnios  (IAGP)
Open operculum  (IAGP)
Optic atrophy  (IAGP)
Orofacial cleft  (IAGP)
Overfolded helix  (IAGP)
Pancreatic cysts  (IAGP)
Pancreatic fibrosis  (IAGP)
Polymicrogyria  (IAGP)
Postaxial foot polydactyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Postaxial polydactyly  (IAGP)
Posterior fossa cyst  (IAGP)
Posteriorly rotated ears  (IAGP)
Preaxial hand 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 cyst  (IAGP)
Renal dysplasia  (IAGP)
Renal insufficiency  (IAGP)
Respiratory failure  (IAGP)
Retinal dystrophy  (IAGP)
Retinopathy  (IAGP)
Rhizomelic arm shortening  (IAGP)
Rhizomelic leg shortening  (IAGP)
Sclerocornea  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short digit  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Single naris  (IAGP)
Situs inversus totalis  (IAGP)
Sloping forehead  (IAGP)
Small cervical vertebral bodies  (IAGP)
Splenomegaly  (IAGP)
Strabismus  (IAGP)
Subretinal deposits  (IAGP)
Supernumerary nipple  (IAGP)
Tachypnea  (IAGP)
Talipes  (IAGP)
Thoracic hypoplasia  (IAGP)
Tremor  (IAGP)
True hermaphroditism  (IAGP)
Twelfth rib hypoplasia  (IAGP)
Ureteral duplication  (IAGP)
Urethral atresia  (IAGP)
Ventriculomegaly  (IAGP)
Visual loss  (IAGP)
Wide intermamillary distance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12477932   PMID:14702039   PMID:15580290   PMID:16344560   PMID:16826565   PMID:18187620   PMID:19129481   PMID:20301500   PMID:20519441   PMID:21399614   PMID:21873635   PMID:24255178  
PMID:24360803   PMID:24360807   PMID:24360808   PMID:24613305   PMID:24901235   PMID:25281560   PMID:25416956   PMID:25833693   PMID:26186194   PMID:26241740   PMID:26378239   PMID:26496610  
PMID:26638075   PMID:27173435   PMID:27880917   PMID:28514442   PMID:29053956   PMID:29395067   PMID:29742019   PMID:29778605   PMID:30965236   PMID:31182584   PMID:31462741   PMID:31586073  
PMID:32296183   PMID:32453716   PMID:32495924   PMID:33957083   PMID:33961781   PMID:34079125   PMID:35271311   PMID:35713481   PMID:36606424   PMID:36674791   PMID:36752787   PMID:36774506  
PMID:36931259   PMID:37689310   PMID:39098523   PMID:40437099  


Genomics

Comparative Map Data
CSPP1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38867,064,368 - 67,196,614 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl867,062,417 - 67,196,778 (+)Ensemblhg38GRCh38
GRCh37867,976,603 - 68,108,849 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36868,139,157 - 68,271,052 (+)NCBIBuild 36Build 36hg18NCBI36
Celera863,969,919 - 64,102,249 (+)NCBICelera
Cytogenetic Map8q13.1-q13.2NCBI
HuRef863,469,182 - 63,600,778 (+)NCBIHuRef
CHM1_1868,031,912 - 68,164,861 (+)NCBICHM1_1
T2T-CHM13v2.0867,488,869 - 67,623,074 (+)NCBIT2T-CHM13v2.0
Cspp1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39110,108,194 - 10,206,996 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl110,108,212 - 10,206,993 (+)EnsemblGRCm39 EnsemblGRCm39
GRCm38110,038,116 - 10,136,771 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl110,037,987 - 10,136,768 (+)Ensemblmm10GRCm38
MGSCv37110,028,299 - 10,126,849 (+)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36110,030,300 - 10,121,982 (+)NCBIMGSCv36mm8
Celera110,012,459 - 10,110,361 (+)NCBICelera
Cytogenetic Map1A2NCBI
cM Map12.3NCBI
Cspp1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8513,860,072 - 13,975,299 (-)NCBIGRCr8GRCr8GRCr8
GRCr8 Ensembl513,860,072 - 13,975,321 (-)EnsemblGRCr8
mRatBN7.259,077,161 - 9,192,402 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl59,077,161 - 9,193,377 (-)EnsemblmRatBN7.2
UTH_Rnor_SHR_Utx511,231,097 - 11,343,957 (-)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0512,856,314 - 12,971,252 (-)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0512,565,758 - 12,678,614 (-)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.058,761,293 - 8,876,205 (-)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl58,761,293 - 8,864,578 (-)Ensemblrn6Rnor6.0
Rnor_5.0513,569,515 - 13,684,152 (-)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.458,593,753 - 8,697,770 (-)NCBIRGSC_v3.4RGSC_v3.4rn4
Celera58,588,713 - 8,691,714 (-)NCBICelera
RGSC_v3.158,594,372 - 8,649,735 (-)NCBI
Cytogenetic Map5q11NCBI
Cspp1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495544412,111,375 - 12,217,065 (-)NCBIChiLan1.0ChiLan1.0
CSPP1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2782,801,600 - 82,933,378 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1858,443,825 - 58,576,039 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0863,607,217 - 63,739,464 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1865,266,937 - 65,401,069 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 Ensembl865,268,837 - 65,401,069 (+)EnsemblpanPan2panpan1.1
CSPP1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12916,580,747 - 16,715,201 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2916,580,562 - 16,761,901 (+)EnsemblcanFam3CanFam3.1
Dog10K_Boxer_Tasha2916,895,986 - 17,078,374 (+)NCBIDog10K_Boxer_TashaDog10K_Boxer_Tasha
ROS_Cfam_1.02916,661,078 - 16,844,056 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2916,661,902 - 16,818,648 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12916,692,593 - 16,875,424 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02916,792,927 - 16,975,253 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02917,049,311 - 17,232,914 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Cspp1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530367,751,371 - 67,869,638 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364966,915,281 - 7,034,124 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049364966,915,840 - 7,036,205 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CSPP1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl467,613,660 - 67,738,877 (-)EnsemblsusScr11Sscrofa11.1
Sscrofa11.1467,614,067 - 67,844,337 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2473,674,923 - 73,799,625 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CSPP1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1862,926,608 - 63,057,109 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl862,927,342 - 63,056,487 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366603978,445,965 - 78,579,660 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cspp1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474424,146,096 - 24,287,002 (-)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_00462474424,145,480 - 24,286,931 (-)NCBIHetGla 1.0HetGla 1.0hetGla2

Variants

.
Variants in CSPP1
1127 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001382391.1(CSPP1):c.1817del (p.Leu606fs) deletion Joubert syndrome 21 [RCV001853627]|not provided [RCV000520172] Chr8:67132068 [GRCh38]
Chr8:68044303 [GRCh37]
Chr8:8q13.2		 pathogenic|likely pathogenic
NM_001382391.1(CSPP1):c.1850_1860del (p.Arg617fs) deletion Joubert syndrome 21 [RCV001868165]|not provided [RCV000627450] Chr8:67137468..67137478 [GRCh38]
Chr8:68049703..68049713 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3455_3460del (p.Lys1152_Pro1153del) deletion not provided [RCV000722367] Chr8:67193586..67193591 [GRCh38]
Chr8:68105821..68105826 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.953_977dup (p.Val326_Ile327insSerTyrGlyThrTer) duplication not provided [RCV000722637] Chr8:67103065..67103066 [GRCh38]
Chr8:68015300..68015301 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1453C>T (p.Arg485Cys) single nucleotide variant Joubert syndrome 21 [RCV001302573] Chr8:67116079 [GRCh38]
Chr8:68028314 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1693G>A (p.Val565Ile) single nucleotide variant CSPP1-related disorder [RCV003925555]|Joubert syndrome 21 [RCV000703453]|not provided [RCV000521993] Chr8:67118817 [GRCh38]
Chr8:68031052 [GRCh37]
Chr8:8q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter) single nucleotide variant CSPP1-related disorder [RCV004757126]|Joubert syndrome 21 [RCV000087066]|not provided [RCV004719692] Chr8:67158540 [GRCh38]
Chr8:68070775 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) deletion Joubert syndrome 21 [RCV000087067]|not provided [RCV001555416] Chr8:67158463..67158464 [GRCh38]
Chr8:68070698..68070699 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs) deletion Joubert syndrome 21 [RCV000087068] Chr8:67158500 [GRCh38]
Chr8:68070735 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) duplication Joubert syndrome 21 [RCV000087069] Chr8:67190655..67190656 [GRCh38]
Chr8:68102890..68102891 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2968+1G>A single nucleotide variant Joubert syndrome 21 [RCV000087070] Chr8:67172556 [GRCh38]
Chr8:68084791 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs) deletion Joubert syndrome 21 [RCV000087071] Chr8:67161814..67161815 [GRCh38]
Chr8:68074049..68074050 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter) single nucleotide variant Joubert syndrome 21 [RCV000087072] Chr8:67095440 [GRCh38]
Chr8:68007675 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) deletion Joubert syndrome 21 [RCV000087073] Chr8:67086061..67086062 [GRCh38]
Chr8:67998296..67998297 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) deletion CSPP1-related disorder [RCV004757127]|Joubert syndrome 21 [RCV000087074]|Meckel-Gruber syndrome [RCV000162164]|not provided [RCV001008753] Chr8:67158463..67158466 [GRCh38]
Chr8:68070698..68070701 [GRCh37]
Chr8:8q13.2		 pathogenic|likely pathogenic
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter) single nucleotide variant Joubert syndrome 21 [RCV000087075] Chr8:67095434 [GRCh38]
Chr8:68007669 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter) single nucleotide variant Joubert syndrome 21 [RCV000087076] Chr8:67164468 [GRCh38]
Chr8:68076703 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3156+6C>T single nucleotide variant CSPP1-related disorder [RCV004757390]|Inborn genetic diseases [RCV002564113]|Joubert syndrome 21 [RCV001246867] Chr8:67177732 [GRCh38]
Chr8:68089967 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.1-21.13(chr8:57361243-79170078)x3 copy number gain See cases [RCV000053653] Chr8:57361243..79170078 [GRCh38]
Chr8:58273802..80082313 [GRCh37]
Chr8:58436356..80244868 [NCBI36]
Chr8:8q12.1-21.13		 pathogenic
GRCh38/hg38 8q12.3-21.13(chr8:61691800-82537696)x3 copy number gain See cases [RCV000053654] Chr8:61691800..82537696 [GRCh38]
Chr8:62604359..83449931 [GRCh37]
Chr8:62766913..83612486 [NCBI36]
Chr8:8q12.3-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1 copy number loss See cases [RCV000054242] Chr8:62230636..73227786 [GRCh38]
Chr8:63143195..74140021 [GRCh37]
Chr8:63305749..74302575 [NCBI36]
Chr8:8q12.3-21.11		 pathogenic
NM_024790.6(CSPP1):c.1481G>A (p.Arg494Lys) single nucleotide variant Malignant melanoma [RCV000068371] Chr8:67116122 [GRCh38]
Chr8:68028357 [GRCh37]
Chr8:68190911 [NCBI36]
Chr8:8q13.2		 not provided
NM_024790.6(CSPP1):c.3512G>A (p.Gly1171Glu) single nucleotide variant Malignant melanoma [RCV000068372] Chr8:67195439 [GRCh38]
Chr8:68107674 [GRCh37]
Chr8:68270228 [NCBI36]
Chr8:8q13.2		 not provided
NM_006837.2(COPS5):c.134G>A (p.Trp45Ter) single nucleotide variant Malignant melanoma [RCV000061823] Chr8:67061863 [GRCh38]
Chr8:67974098 [GRCh37]
Chr8:68136652 [NCBI36]
Chr8:8q13.1		 not provided
NM_001382391.1(CSPP1):c.430del (p.Arg144fs) deletion Joubert syndrome 21 [RCV000201561] Chr8:67093588 [GRCh38]
Chr8:68005823 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.3220+1G>A single nucleotide variant Joubert syndrome 21 [RCV000201570] Chr8:67179927 [GRCh38]
Chr8:68092162 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.923+1G>C single nucleotide variant Joubert syndrome 21 [RCV000201587]|not provided [RCV001847909] Chr8:67095733 [GRCh38]
Chr8:68007968 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.1697+1G>T single nucleotide variant Joubert syndrome 21 [RCV000201750] Chr8:67118822 [GRCh38]
Chr8:68031057 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_024790.6(CSPP1):c.362_363delAT (p.His121Glnfs) deletion Joubert syndrome 21 [RCV000201624] Chr8:67086061..67086062 [GRCh38]
Chr8:67998296..67998297 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.2463_2469del (p.Glu822fs) microsatellite Joubert syndrome 21 [RCV000201764] Chr8:67159050..67159056 [GRCh38]
Chr8:68071285..68071291 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter) single nucleotide variant Joubert syndrome 21 [RCV000201690]|not provided [RCV000520785] Chr8:67111983 [GRCh38]
Chr8:68024218 [GRCh37]
Chr8:8q13.2		 pathogenic|likely pathogenic
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs) deletion CSPP1-related disorder [RCV003982947]|Joubert syndrome 21 [RCV000201696]|not provided [RCV001268619] Chr8:67164396 [GRCh38]
Chr8:68076631 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2463_2469dup (p.Glu824fs) microsatellite Joubert syndrome 21 [RCV000201734] Chr8:67159049..67159050 [GRCh38]
Chr8:68071284..68071285 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1967A>G (p.Asn656Ser) single nucleotide variant Joubert syndrome 21 [RCV001302739] Chr8:67137595 [GRCh38]
Chr8:68049830 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs) microsatellite Joubert syndrome 21 [RCV000201671]|not provided [RCV005411369] Chr8:67159047..67159050 [GRCh38]
Chr8:68071282..68071285 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter) single nucleotide variant Joubert syndrome 21 [RCV000201785] Chr8:67158480 [GRCh38]
Chr8:68070715 [GRCh37]
Chr8:8q13.2		 pathogenic|likely pathogenic
NM_001382391.1(CSPP1):c.2314C>T (p.Arg772Trp) single nucleotide variant Inborn genetic diseases [RCV004978275]|Joubert syndrome 21 [RCV001302884] Chr8:67158519 [GRCh38]
Chr8:68070754 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh38/hg38 8q11.1-13.2(chr8:46031334-69303787)x3 copy number gain See cases [RCV000133720] Chr8:46031334..69303787 [GRCh38]
Chr8:46942956..70216022 [GRCh37]
Chr8:47062121..70378576 [NCBI36]
Chr8:8q11.1-13.2		 pathogenic
GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3 copy number gain See cases [RCV000137050] Chr8:66171669..93505509 [GRCh38]
Chr8:67083904..94517737 [GRCh37]
Chr8:67246458..94586913 [NCBI36]
Chr8:8q13.1-22.1		 pathogenic
GRCh38/hg38 8q13.1-21.13(chr8:66633845-80100089)x3 copy number gain See cases [RCV000138027] Chr8:66633845..80100089 [GRCh38]
Chr8:67546080..81012324 [GRCh37]
Chr8:67708634..81174879 [NCBI36]
Chr8:8q13.1-21.13		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8q13.1-13.2(chr8:66968881-67271875)x3 copy number gain See cases [RCV000141417] Chr8:66968881..67271875 [GRCh38]
Chr8:67881116..68184110 [GRCh37]
Chr8:68043670..68346664 [NCBI36]
Chr8:8q13.1-13.2		 uncertain significance
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.104A>G (p.Lys35Arg) single nucleotide variant CSPP1-related disorder [RCV003935358]|Joubert syndrome 21 [RCV001083166]|not provided [RCV000513710] Chr8:67076486 [GRCh38]
Chr8:67988721 [GRCh37]
Chr8:8q13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001382391.1(CSPP1):c.1022+5A>C single nucleotide variant not specified [RCV000193005] Chr8:67103140 [GRCh38]
Chr8:68015375 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3109+39C>T single nucleotide variant not provided [RCV001571276] Chr8:67175475 [GRCh38]
Chr8:68087710 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1153G>T (p.Glu385Ter) single nucleotide variant Joubert syndrome 21 [RCV001859690]|not provided [RCV000426028] Chr8:67112031 [GRCh38]
Chr8:68024266 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1828-4C>A single nucleotide variant Joubert syndrome 21 [RCV003743750]|not provided [RCV000488123] Chr8:67137452 [GRCh38]
Chr8:68049687 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.3395_3397del (p.Val1132del) deletion Joubert syndrome 21 [RCV001315988]|not provided [RCV000488973] Chr8:67193526..67193528 [GRCh38]
Chr8:68105761..68105763 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.430_431del (p.Arg144fs) deletion Joubert syndrome 21 [RCV002525170]|not provided [RCV000522105] Chr8:67093588..67093589 [GRCh38]
Chr8:68005823..68005824 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.3466dup (p.Thr1156fs) duplication Joubert syndrome 21 [RCV002531117]|not provided [RCV000598647] Chr8:67193598..67193599 [GRCh38]
Chr8:68105833..68105834 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3570_3572dup (p.Ser1191_Glu1192insSer) duplication not provided [RCV000723134] Chr8:67195480..67195481 [GRCh38]
Chr8:68107715..68107716 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2392-8_2392-4del microsatellite Joubert syndrome 21 [RCV000546968]|not provided [RCV001700367] Chr8:67158978..67158982 [GRCh38]
Chr8:68071213..68071217 [GRCh37]
Chr8:8q13.2		 benign|likely benign|uncertain significance
NM_001382391.1(CSPP1):c.3530C>T (p.Ser1177Leu) single nucleotide variant Inborn genetic diseases [RCV003189922] Chr8:67195442 [GRCh38]
Chr8:68107677 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.291_293delinsCTT (p.Tyr98Phe) indel not provided [RCV000722372] Chr8:67086098..67086100 [GRCh38]
Chr8:67998333..67998335 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3221-2A>G single nucleotide variant not provided [RCV000722928] Chr8:67190648 [GRCh38]
Chr8:68102883 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8q13.2(chr8:68041907-68464647)x3 copy number gain See cases [RCV000454319] Chr8:68041907..68464647 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.3405T>G (p.Leu1135=) single nucleotide variant CSPP1-related disorder [RCV003925290]|Joubert syndrome 21 [RCV000950923]|not provided [RCV003431007]|not specified [RCV000420814] Chr8:67193538 [GRCh38]
Chr8:68105773 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.51C>T (p.Ala17=) single nucleotide variant Joubert syndrome 21 [RCV000652007]|not provided [RCV003422406]|not specified [RCV000438057] Chr8:67074303 [GRCh38]
Chr8:67986538 [GRCh37]
Chr8:8q13.1		 likely benign
NM_024790.6(CSPP1):c.-12C>T single nucleotide variant not specified [RCV000435194] Chr8:67064387 [GRCh38]
Chr8:67976622 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2539-12T>A single nucleotide variant Joubert syndrome 21 [RCV001513166]|not provided [RCV004705536]|not specified [RCV000425283] Chr8:67161799 [GRCh38]
Chr8:68074034 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.2392-17C>T single nucleotide variant Joubert syndrome 21 [RCV001511790]|not provided [RCV004712785]|not specified [RCV000428859] Chr8:67158974 [GRCh38]
Chr8:68071209 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.1245+15C>T single nucleotide variant Joubert syndrome 21 [RCV001514360]|not provided [RCV001698279] Chr8:67113877 [GRCh38]
Chr8:68026112 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.3220+13A>G single nucleotide variant Joubert syndrome 21 [RCV001512555]|not provided [RCV004712806]|not specified [RCV000432453] Chr8:67179939 [GRCh38]
Chr8:68092174 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg) single nucleotide variant Joubert syndrome 21 [RCV000550141]|not provided [RCV004712788]|not specified [RCV000432483] Chr8:67190742 [GRCh38]
Chr8:68102977 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=) single nucleotide variant Joubert syndrome 21 [RCV000535434]|not provided [RCV004712797]|not specified [RCV000439471] Chr8:67177708 [GRCh38]
Chr8:68089943 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3431G>A (p.Arg1144Gln) single nucleotide variant Inborn genetic diseases [RCV002524742]|Joubert syndrome 21 [RCV001308223]|not provided [RCV000426272] Chr8:67193564 [GRCh38]
Chr8:68105799 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-121A>G single nucleotide variant CSPP1-related disorder [RCV003922728]|Joubert syndrome 21 [RCV000557114]|not provided [RCV001726165]|not specified [RCV000443482] Chr8:67064428 [GRCh38]
Chr8:67976663 [GRCh37]
Chr8:8q13.1		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319)x1 copy number loss See cases [RCV000445999] Chr8:65194424..68570319 [GRCh37]
Chr8:8q12.3-13.2		 pathogenic
NM_001382391.1(CSPP1):c.2590A>C (p.Ser864Arg) single nucleotide variant CSPP1-related disorder [RCV003932624]|Joubert syndrome 21 [RCV000949165]|not provided [RCV000419909] Chr8:67161862 [GRCh38]
Chr8:68074097 [GRCh37]
Chr8:8q13.2		 likely pathogenic|likely benign
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser) single nucleotide variant CSPP1-related disorder [RCV003922770]|Joubert syndrome 21 [RCV000560276]|not provided [RCV000440178] Chr8:67195405 [GRCh38]
Chr8:68107640 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) single nucleotide variant Joubert syndrome 21 [RCV001407852]|not specified [RCV000440201] Chr8:67113835 [GRCh38]
Chr8:68026070 [GRCh37]
Chr8:8q13.2		 likely benign|conflicting interpretations of pathogenicity
NM_001382391.1(CSPP1):c.967G>A (p.Asp323Asn) single nucleotide variant Inborn genetic diseases [RCV003243120]|not provided [RCV000436109] Chr8:67103080 [GRCh38]
Chr8:68015315 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His) single nucleotide variant Joubert syndrome 21 [RCV001511791]|not provided [RCV004712786]|not specified [RCV000440846] Chr8:67161902 [GRCh38]
Chr8:68074137 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2968+5G>A single nucleotide variant Joubert syndrome 21 [RCV001211875]|not provided [RCV000444612] Chr8:67172560 [GRCh38]
Chr8:68084795 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-34C>G single nucleotide variant Joubert syndrome 21 [RCV001512343]|not provided [RCV004712792]|not specified [RCV000420412] Chr8:67064515 [GRCh38]
Chr8:67976750 [GRCh37]
Chr8:8q13.1		 benign
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=) single nucleotide variant CSPP1-related disorder [RCV003912655]|Joubert syndrome 21 [RCV000945690]|not provided [RCV001703618]|not specified [RCV000437529] Chr8:67190714 [GRCh38]
Chr8:68102949 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.2017C>A (p.His673Asn) single nucleotide variant not provided [RCV000483524] Chr8:67149824 [GRCh38]
Chr8:68062059 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2128+36del deletion Joubert syndrome 21 [RCV002056687]|not provided [RCV001721488]|not specified [RCV000454556] Chr8:67149948 [GRCh38]
Chr8:68062183 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3110-1G>A single nucleotide variant Joubert syndrome 21 [RCV003583161]|not provided [RCV000483022] Chr8:67177679 [GRCh38]
Chr8:68089914 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.814C>T (p.Arg272Trp) single nucleotide variant Inborn genetic diseases [RCV002525937]|Joubert syndrome 21 [RCV001054937]|not provided [RCV000481792] Chr8:67095623 [GRCh38]
Chr8:68007858 [GRCh37]
Chr8:8q13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001382391.1(CSPP1):c.1619-15_1619-8del microsatellite not specified [RCV000486182] Chr8:67118714..67118721 [GRCh38]
Chr8:68030949..68030956 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1023-7dup duplication Joubert syndrome 21 [RCV002063759]|not specified [RCV000478525] Chr8:67105891..67105892 [GRCh38]
Chr8:68018126..68018127 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.26T>C (p.Ile9Thr) single nucleotide variant not provided [RCV000478974] Chr8:67074278 [GRCh38]
Chr8:67986513 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2220C>A (p.Tyr740Ter) single nucleotide variant Joubert syndrome 21 [RCV000503871]|not provided [RCV001778979] Chr8:67154115 [GRCh38]
Chr8:68066350 [GRCh37]
Chr8:8q13.2		 pathogenic|likely pathogenic
NM_001382391.1(CSPP1):c.2829-9_2968+11del deletion Joubert syndrome 21 [RCV000501762] Chr8:67172404..67172563 [GRCh38]
Chr8:68084639..68084798 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.*6A>G single nucleotide variant not provided [RCV004691799]|not specified [RCV000499657] Chr8:67195599 [GRCh38]
Chr8:68107834 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.3245C>T (p.Ala1082Val) single nucleotide variant Joubert syndrome 21 [RCV002524083]|not provided [RCV000498042] Chr8:67190674 [GRCh38]
Chr8:68102909 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=) single nucleotide variant Joubert syndrome 21 [RCV000878340]|not provided [RCV001537808]|not specified [RCV000502767] Chr8:67179871 [GRCh38]
Chr8:68092106 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_024790.6(CSPP1):c.2113+13delT deletion not specified [RCV000493201] Chr8:67149948 [GRCh38]
Chr8:68062183 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3647T>A (p.Phe1216Tyr) single nucleotide variant not provided [RCV000493427] Chr8:67195559 [GRCh38]
Chr8:68107794 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=) single nucleotide variant Joubert syndrome 21 [RCV000558436]|not provided [RCV001726238]|not specified [RCV000615327] Chr8:67149784 [GRCh38]
Chr8:68062019 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys) single nucleotide variant Joubert syndrome 21 [RCV000878181]|not provided [RCV000605361] Chr8:67116017 [GRCh38]
Chr8:68028252 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.448A>G (p.Ser150Gly) single nucleotide variant Joubert syndrome 21 [RCV000534027] Chr8:67093606 [GRCh38]
Chr8:68005841 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2294C>A (p.Ala765Glu) single nucleotide variant Inborn genetic diseases [RCV002526704]|Joubert syndrome 21 [RCV000536770] Chr8:67158499 [GRCh38]
Chr8:68070734 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3109+18C>T single nucleotide variant Joubert syndrome 21 [RCV001520141]|not specified [RCV000615664] Chr8:67175454 [GRCh38]
Chr8:68087689 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.2887C>T (p.Pro963Ser) single nucleotide variant Joubert syndrome 21 [RCV002524990]|not provided [RCV000514476] Chr8:67172474 [GRCh38]
Chr8:68084709 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3110-11A>G single nucleotide variant Joubert syndrome 21 [RCV001512201]|not provided [RCV004712907]|not specified [RCV000612679] Chr8:67177669 [GRCh38]
Chr8:68089904 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.100-13A>G single nucleotide variant Joubert syndrome 21 [RCV001523569]|not provided [RCV001719051] Chr8:67076469 [GRCh38]
Chr8:67988704 [GRCh37]
Chr8:8q13.1		 benign|likely benign
NM_001382391.1(CSPP1):c.2421G>A (p.Arg807=) single nucleotide variant Joubert syndrome 21 [RCV002529690]|not provided [RCV004584771]|not specified [RCV000615901] Chr8:67159020 [GRCh38]
Chr8:68071255 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.5C>T (p.Ala2Val) single nucleotide variant Joubert syndrome 21 [RCV000652005]|not provided [RCV003126892] Chr8:67074257 [GRCh38]
Chr8:67986492 [GRCh37]
Chr8:8q13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001382391.1(CSPP1):c.2527dup (p.Glu843fs) duplication Joubert syndrome 21 [RCV000652006]|not provided [RCV004721524] Chr8:67159122..67159123 [GRCh38]
Chr8:68071357..68071358 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2268A>G (p.Glu756=) single nucleotide variant Joubert syndrome 21 [RCV000652008]|not provided [RCV001662710] Chr8:67158473 [GRCh38]
Chr8:68070708 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2122A>G (p.Ser708Gly) single nucleotide variant Joubert syndrome 21 [RCV000652009]|not provided [RCV003992362] Chr8:67149929 [GRCh38]
Chr8:68062164 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.-10-5dup duplication Joubert syndrome 21 [RCV001514152]|not provided [RCV001722609] Chr8:67074229..67074230 [GRCh38]
Chr8:67986464..67986465 [GRCh37]
Chr8:8q13.1		 benign|likely benign
NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly) single nucleotide variant CSPP1-related disorder [RCV003935669]|Joubert syndrome 21 [RCV000714686]|not provided [RCV001718897] Chr8:67190725 [GRCh38]
Chr8:68102960 [GRCh37]
Chr8:8q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001382391.1(CSPP1):c.1946C>T (p.Pro649Leu) single nucleotide variant Joubert syndrome 21 [RCV000656094] Chr8:67137574 [GRCh38]
Chr8:68049809 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3425G>C (p.Arg1142Pro) single nucleotide variant Inborn genetic diseases [RCV003262714] Chr8:67193558 [GRCh38]
Chr8:68105793 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3470-20G>T single nucleotide variant Joubert syndrome 21 [RCV001513877]|not specified [RCV000604720] Chr8:67195362 [GRCh38]
Chr8:68107597 [GRCh37]
Chr8:8q13.2		 benign|likely benign
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.3221-19C>T single nucleotide variant Joubert syndrome 21 [RCV003767594]|not specified [RCV000601091] Chr8:67190631 [GRCh38]
Chr8:68102866 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2161C>G (p.Arg721Gly) single nucleotide variant Joubert syndrome 21 [RCV000656095] Chr8:67154056 [GRCh38]
Chr8:68066291 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2778T>C (p.Arg926=) single nucleotide variant not provided [RCV000658432] Chr8:67164458 [GRCh38]
Chr8:68076693 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1675C>A (p.His559Asn) single nucleotide variant Inborn genetic diseases [RCV002534348]|Joubert syndrome 21 [RCV000698077] Chr8:67118799 [GRCh38]
Chr8:68031034 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1983G>C (p.Leu661Phe) single nucleotide variant Inborn genetic diseases [RCV002534345]|Joubert syndrome 21 [RCV000697951]|not provided [RCV003222107] Chr8:67149790 [GRCh38]
Chr8:68062025 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8q13.1-13.2(chr8:67951205-68078373)x1 copy number loss not provided [RCV000682931] Chr8:67951205..68078373 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
GRCh37/hg19 8q13.2(chr8:68038759-68245969)x3 copy number gain not provided [RCV000682943] Chr8:68038759..68245969 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3509_3512dup (p.His1171fs) duplication Joubert syndrome 21 [RCV000687761] Chr8:67195419..67195420 [GRCh38]
Chr8:68107654..68107655 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1061A>G (p.Asp354Gly) single nucleotide variant Joubert syndrome 21 [RCV000703006]|not provided [RCV001562297] Chr8:67105943 [GRCh38]
Chr8:68018178 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NC_000008.10:g.(?_68024187)_(68107848_?)dup duplication Joubert syndrome 21 [RCV000708130] Chr8:67111952..67195613 [GRCh38]
Chr8:68024187..68107848 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2830A>T (p.Lys944Ter) single nucleotide variant Joubert syndrome 21 [RCV000705921] Chr8:67172417 [GRCh38]
Chr8:68084652 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.59_60del (p.Lys20fs) deletion Joubert syndrome 21 [RCV000697916]|not provided [RCV001816720] Chr8:67074310..67074311 [GRCh38]
Chr8:67986545..67986546 [GRCh37]
Chr8:8q13.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001382391.1(CSPP1):c.2540del (p.His847fs) deletion Joubert syndrome 21 [RCV000695658] Chr8:67161812 [GRCh38]
Chr8:68074047 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1187+85G>A single nucleotide variant not provided [RCV001567540] Chr8:67112150 [GRCh38]
Chr8:68024385 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2828+296C>T single nucleotide variant not provided [RCV001546904] Chr8:67164804 [GRCh38]
Chr8:68077039 [GRCh37]
Chr8:8q13.2		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.2128+32_2128+36del deletion not provided [RCV001581827] Chr8:67149948..67149952 [GRCh38]
Chr8:68062183..68062187 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3469+162C>T single nucleotide variant not provided [RCV001565555] Chr8:67193764 [GRCh38]
Chr8:68105999 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.81A>T (p.Pro27=) single nucleotide variant Joubert syndrome 21 [RCV000939853] Chr8:67074333 [GRCh38]
Chr8:67986568 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2594A>T (p.Lys865Ile) single nucleotide variant Joubert syndrome 21 [RCV001065025] Chr8:67161866 [GRCh38]
Chr8:68074101 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.994A>G (p.Ile332Val) single nucleotide variant Joubert syndrome 21 [RCV001067443] Chr8:67103107 [GRCh38]
Chr8:68015342 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3221-254G>C single nucleotide variant not provided [RCV001551943] Chr8:67190396 [GRCh38]
Chr8:68102631 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2080G>T (p.Ala694Ser) single nucleotide variant Joubert syndrome 21 [RCV001067400] Chr8:67149887 [GRCh38]
Chr8:68062122 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2829-241_2829-240del deletion not provided [RCV001548396] Chr8:67172155..67172156 [GRCh38]
Chr8:68084390..68084391 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2969-113A>G single nucleotide variant not provided [RCV001582985] Chr8:67175183 [GRCh38]
Chr8:68087418 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.303+120G>A single nucleotide variant not provided [RCV001583019] Chr8:67086230 [GRCh38]
Chr8:67998465 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.-30T>A single nucleotide variant not provided [RCV001681604] Chr8:67064519 [GRCh38]
Chr8:67976754 [GRCh37]
Chr8:8q13.1		 benign
NM_001382391.1(CSPP1):c.3221-272A>G single nucleotide variant not provided [RCV001709308] Chr8:67190378 [GRCh38]
Chr8:68102613 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.1495A>G (p.Arg499Gly) single nucleotide variant not provided [RCV000999042] Chr8:67116121 [GRCh38]
Chr8:68028356 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.511A>G (p.Ile171Val) single nucleotide variant CSPP1-related disorder [RCV003960611]|Joubert syndrome 21 [RCV000950322] Chr8:67095320 [GRCh38]
Chr8:68007555 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.6T>C (p.Ala2=) single nucleotide variant not provided [RCV000945917] Chr8:67074258 [GRCh38]
Chr8:67986493 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1209G>A (p.Arg403=) single nucleotide variant Joubert syndrome 21 [RCV001445308] Chr8:67113826 [GRCh38]
Chr8:68026061 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2676G>A (p.Pro892=) single nucleotide variant Joubert syndrome 21 [RCV001447022] Chr8:67163764 [GRCh38]
Chr8:68075999 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1521C>T (p.Pro507=) single nucleotide variant Joubert syndrome 21 [RCV000877813]|not provided [RCV004584820] Chr8:67118272 [GRCh38]
Chr8:68030507 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.1141C>T (p.Leu381=) single nucleotide variant CSPP1-related disorder [RCV004757335]|Joubert syndrome 21 [RCV000926931] Chr8:67112019 [GRCh38]
Chr8:68024254 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.660A>T (p.Leu220=) single nucleotide variant not provided [RCV000920350] Chr8:67095469 [GRCh38]
Chr8:68007704 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.945G>A (p.Gly315=) single nucleotide variant CSPP1-related disorder [RCV003962830]|Joubert syndrome 21 [RCV001447880]|not provided [RCV003432972] Chr8:67103058 [GRCh38]
Chr8:68015293 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.815G>A (p.Arg272Gln) single nucleotide variant Inborn genetic diseases [RCV004609562]|Joubert syndrome 21 [RCV000877994]|not specified [RCV001817047] Chr8:67095624 [GRCh38]
Chr8:68007859 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.3578C>T (p.Thr1193Met) single nucleotide variant CSPP1-related disorder [RCV003903159]|Joubert syndrome 21 [RCV000946259] Chr8:67195490 [GRCh38]
Chr8:68107725 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2672C>T (p.Pro891Leu) single nucleotide variant Joubert syndrome 21 [RCV000900093]|not provided [RCV004705895] Chr8:67163760 [GRCh38]
Chr8:68075995 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1402G>C (p.Val468Leu) single nucleotide variant Joubert syndrome 21 [RCV001034859] Chr8:67116028 [GRCh38]
Chr8:68028263 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3655C>G (p.Gln1219Glu) single nucleotide variant Inborn genetic diseases [RCV004609607]|Joubert syndrome 21 [RCV001062425] Chr8:67195567 [GRCh38]
Chr8:68107802 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1556C>T (p.Pro519Leu) single nucleotide variant CSPP1-related disorder [RCV003928659]|Joubert syndrome 21 [RCV001071192]|Microcephaly [RCV001252707] Chr8:67118307 [GRCh38]
Chr8:68030542 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.919G>A (p.Asp307Asn) single nucleotide variant Joubert syndrome 21 [RCV001071195] Chr8:67095728 [GRCh38]
Chr8:68007963 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3275C>T (p.Ser1092Leu) single nucleotide variant Inborn genetic diseases [RCV004031271]|Joubert syndrome 21 [RCV001042057]|not provided [RCV004693484] Chr8:67190704 [GRCh38]
Chr8:68102939 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.11:g.(?_67149783)_(67177726_?)dup duplication Joubert syndrome 21 [RCV001033814] Chr8:68062018..68089961 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.3157C>T (p.Pro1053Ser) single nucleotide variant Inborn genetic diseases [RCV002554549]|Joubert syndrome 21 [RCV001068552] Chr8:67179863 [GRCh38]
Chr8:68092098 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2762G>A (p.Arg921His) single nucleotide variant Inborn genetic diseases [RCV002553063]|Joubert syndrome 21 [RCV001039777] Chr8:67164442 [GRCh38]
Chr8:68076677 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1651G>A (p.Ala551Thr) single nucleotide variant Joubert syndrome 21 [RCV001038309] Chr8:67118775 [GRCh38]
Chr8:68031010 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3106A>G (p.Lys1036Glu) single nucleotide variant Joubert syndrome 21 [RCV001054269]|not provided [RCV001759797] Chr8:67175433 [GRCh38]
Chr8:68087668 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1976-2A>G single nucleotide variant Joubert syndrome 21 [RCV001057767] Chr8:67149781 [GRCh38]
Chr8:68062016 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1987A>G (p.Arg663Gly) single nucleotide variant Joubert syndrome 21 [RCV000814999]|not provided [RCV001560586] Chr8:67149794 [GRCh38]
Chr8:68062029 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.3675T>C (p.His1225=) single nucleotide variant Joubert syndrome 21 [RCV005092904] Chr8:67195587 [GRCh38]
Chr8:68107822 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3404T>G (p.Leu1135Arg) single nucleotide variant Joubert syndrome 21 [RCV000960785] Chr8:67193537 [GRCh38]
Chr8:68105772 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.483+10G>C single nucleotide variant Joubert syndrome 21 [RCV002065923] Chr8:67093651 [GRCh38]
Chr8:68005886 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.924-9G>A single nucleotide variant CSPP1-related disorder [RCV003942991]|Joubert syndrome 21 [RCV000946165] Chr8:67103028 [GRCh38]
Chr8:68015263 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.1398A>G (p.Pro466=) single nucleotide variant Joubert syndrome 21 [RCV001869321] Chr8:67116024 [GRCh38]
Chr8:68028259 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1461A>T (p.Gly487=) single nucleotide variant not provided [RCV000977880] Chr8:67116087 [GRCh38]
Chr8:68028322 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2241+134C>T single nucleotide variant not provided [RCV000832147] Chr8:67154270 [GRCh38]
Chr8:68066505 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3470-187C>G single nucleotide variant not provided [RCV000832148] Chr8:67195195 [GRCh38]
Chr8:68107430 [GRCh37]
Chr8:8q13.2		 benign
GRCh37/hg19 8q13.2(chr8:68026827-68064392)x1 copy number loss not provided [RCV000845776] Chr8:68026827..68064392 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.923+83A>G single nucleotide variant not provided [RCV000834384] Chr8:67095815 [GRCh38]
Chr8:68008050 [GRCh37]
Chr8:8q13.1		 benign
NM_001382391.1(CSPP1):c.1698-65C>T single nucleotide variant not provided [RCV000834385] Chr8:67131886 [GRCh38]
Chr8:68044121 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.1697+265T>C single nucleotide variant not provided [RCV000832802] Chr8:67119086 [GRCh38]
Chr8:68031321 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2813A>G (p.Asp938Gly) single nucleotide variant Joubert syndrome 21 [RCV000795882]|not provided [RCV003480830] Chr8:67164493 [GRCh38]
Chr8:68076728 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1697+227C>G single nucleotide variant not provided [RCV000838891] Chr8:67119048 [GRCh38]
Chr8:68031283 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-11+236G>T single nucleotide variant not provided [RCV000826887] Chr8:67064774 [GRCh38]
Chr8:67977009 [GRCh37]
Chr8:8q13.1		 benign
NM_001382391.1(CSPP1):c.46T>C (p.Leu16=) single nucleotide variant Joubert syndrome 21 [RCV001085056]|not provided [RCV000840882] Chr8:67074298 [GRCh38]
Chr8:67986533 [GRCh37]
Chr8:8q13.1		 benign|likely benign
NM_001382391.1(CSPP1):c.2735A>G (p.Glu912Gly) single nucleotide variant Joubert syndrome 21 [RCV000816491] Chr8:67164415 [GRCh38]
Chr8:68076650 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.484-87G>A single nucleotide variant not provided [RCV000834315] Chr8:67095206 [GRCh38]
Chr8:68007441 [GRCh37]
Chr8:8q13.1		 benign
NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu) single nucleotide variant Joubert syndrome 21 [RCV001083560]|not provided [RCV000841251] Chr8:67132051 [GRCh38]
Chr8:68044286 [GRCh37]
Chr8:8q13.2		 benign|likely benign
GRCh37/hg19 8q13.1-13.2(chr8:67987416-68078373)x1 copy number loss not provided [RCV000849921] Chr8:67987416..68078373 [GRCh37]
Chr8:8q13.1-13.2		 pathogenic
NM_001382391.1(CSPP1):c.1187+274G>T single nucleotide variant not provided [RCV000832913] Chr8:67112339 [GRCh38]
Chr8:68024574 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.484-15T>G single nucleotide variant Joubert syndrome 21 [RCV001520202]|not provided [RCV000827319] Chr8:67095278 [GRCh38]
Chr8:68007513 [GRCh37]
Chr8:8q13.1		 benign|likely benign
NM_001382391.1(CSPP1):c.1976-270A>T single nucleotide variant not provided [RCV000833340] Chr8:67149513 [GRCh38]
Chr8:68061748 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg) single nucleotide variant Joubert syndrome 21 [RCV001079389]|not provided [RCV000833341]|not specified [RCV001816918] Chr8:67103078 [GRCh38]
Chr8:68015313 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.114G>A (p.Ala38=) single nucleotide variant CSPP1-related disorder [RCV003892159]|Joubert syndrome 21 [RCV001497603] Chr8:67076496 [GRCh38]
Chr8:67988731 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1245+197A>G single nucleotide variant not provided [RCV000832114] Chr8:67114059 [GRCh38]
Chr8:68026294 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2808T>C (p.Ser936=) single nucleotide variant not provided [RCV000916497] Chr8:67164488 [GRCh38]
Chr8:68076723 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3331-37G>A single nucleotide variant not provided [RCV000839323] Chr8:67193427 [GRCh38]
Chr8:68105662 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2828+168G>T single nucleotide variant not provided [RCV000839356] Chr8:67164676 [GRCh38]
Chr8:68076911 [GRCh37]
Chr8:8q13.2		 likely benign
GRCh37/hg19 8q13.1-13.2(chr8:67718713-68020835)x3 copy number gain not provided [RCV001006109] Chr8:67718713..68020835 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1555C>T (p.Pro519Ser) single nucleotide variant Joubert syndrome 21 [RCV001068560] Chr8:67118306 [GRCh38]
Chr8:68030541 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.773G>A (p.Arg258Lys) single nucleotide variant Inborn genetic diseases [RCV004031337]|Joubert syndrome 21 [RCV001043973]|Retinal dystrophy [RCV004813586] Chr8:67095582 [GRCh38]
Chr8:68007817 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2675C>G (p.Pro892Arg) single nucleotide variant Joubert syndrome 21 [RCV001065026] Chr8:67163763 [GRCh38]
Chr8:68075998 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.108G>T (p.Leu36Phe) single nucleotide variant Joubert syndrome 21 [RCV001047108] Chr8:67076490 [GRCh38]
Chr8:67988725 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3638C>G (p.Pro1213Arg) single nucleotide variant Joubert syndrome 21 [RCV001044562] Chr8:67195550 [GRCh38]
Chr8:68107785 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.11:g.(?_67193464)_(67193602_?)del deletion Joubert syndrome 21 [RCV001032638] Chr8:68105699..68105837 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8q13.1-13.2(chr8:67780228-68161496)x3 copy number gain not provided [RCV000848585] Chr8:67780228..68161496 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_001382391.1(CSPP1):c.52G>A (p.Glu18Lys) single nucleotide variant Joubert syndrome 21 [RCV001231450] Chr8:67074304 [GRCh38]
Chr8:67986539 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1871A>G (p.Lys624Arg) single nucleotide variant Joubert syndrome 21 [RCV001067963] Chr8:67137499 [GRCh38]
Chr8:68049734 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2968+1G>T single nucleotide variant Joubert syndrome 21 [RCV000991297] Chr8:67172556 [GRCh38]
Chr8:68084791 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3331-2A>G single nucleotide variant Joubert syndrome 21 [RCV001231245] Chr8:67193462 [GRCh38]
Chr8:68105697 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.113C>T (p.Ala38Val) single nucleotide variant Inborn genetic diseases [RCV002563240]|Joubert syndrome 21 [RCV001234295] Chr8:67076495 [GRCh38]
Chr8:67988730 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3029C>G (p.Thr1010Ser) single nucleotide variant Joubert syndrome 21 [RCV001206212]|not provided [RCV003117844] Chr8:67175356 [GRCh38]
Chr8:68087591 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1639G>A (p.Val547Ile) single nucleotide variant Joubert syndrome 21 [RCV001208864]|not provided [RCV004695174] Chr8:67118763 [GRCh38]
Chr8:68030998 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2282G>A (p.Arg761Lys) single nucleotide variant Inborn genetic diseases [RCV003166474]|Joubert syndrome 21 [RCV001237448] Chr8:67158487 [GRCh38]
Chr8:68070722 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.769G>A (p.Asp257Asn) single nucleotide variant Inborn genetic diseases [RCV004034607]|Joubert syndrome 21 [RCV001239287] Chr8:67095578 [GRCh38]
Chr8:68007813 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.58A>C (p.Lys20Gln) single nucleotide variant Joubert syndrome 21 [RCV001234694] Chr8:67074310 [GRCh38]
Chr8:67986545 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2238C>A (p.Phe746Leu) single nucleotide variant Inborn genetic diseases [RCV002564003]|Joubert syndrome 21 [RCV001241477] Chr8:67154133 [GRCh38]
Chr8:68066368 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2800A>G (p.Met934Val) single nucleotide variant Inborn genetic diseases [RCV005318685]|Joubert syndrome 21 [RCV001240309] Chr8:67164480 [GRCh38]
Chr8:68076715 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1906A>G (p.Arg636Gly) single nucleotide variant Joubert syndrome 21 [RCV001209910] Chr8:67137534 [GRCh38]
Chr8:68049769 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3050C>T (p.Ala1017Val) single nucleotide variant Joubert syndrome 21 [RCV001243429] Chr8:67175377 [GRCh38]
Chr8:68087612 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3603G>C (p.Gln1201His) single nucleotide variant Joubert syndrome 21 [RCV001243477] Chr8:67195515 [GRCh38]
Chr8:68107750 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1831C>T (p.Arg611Trp) single nucleotide variant Joubert syndrome 21 [RCV001232202] Chr8:67137459 [GRCh38]
Chr8:68049694 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1093+3A>G single nucleotide variant Joubert syndrome 21 [RCV001211574] Chr8:67105978 [GRCh38]
Chr8:68018213 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.757G>C (p.Ala253Pro) single nucleotide variant Joubert syndrome 21 [RCV001213198] Chr8:67095566 [GRCh38]
Chr8:68007801 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.799C>T (p.Arg267Cys) single nucleotide variant Joubert syndrome 21 [RCV001201461] Chr8:67095608 [GRCh38]
Chr8:68007843 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1976-20G>A single nucleotide variant Joubert syndrome 21 [RCV003105125] Chr8:67149763 [GRCh38]
Chr8:68061998 [GRCh37]
Chr8:8q13.2		 likely benign
NC_000008.10:g.(68007968_68015271)_(68062171_68066258)del deletion Joubert syndrome 21 [RCV004699904] Chr8:68015271..68062171 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2373_2374del (p.Lys794fs) deletion Joubert syndrome 21 [RCV003120101] Chr8:67158576..67158577 [GRCh38]
Chr8:68070811..68070812 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1291G>A (p.Asp431Asn) single nucleotide variant Joubert syndrome 21 [RCV003104664] Chr8:67115917 [GRCh38]
Chr8:68028152 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3221-138G>A single nucleotide variant not provided [RCV001577408] Chr8:67190512 [GRCh38]
Chr8:68102747 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.*166G>A single nucleotide variant not provided [RCV001547348] Chr8:67195759 [GRCh38]
Chr8:68107994 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1187+187dup duplication not provided [RCV001548166] Chr8:67112234..67112235 [GRCh38]
Chr8:68024469..68024470 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.646A>G (p.Arg216Gly) single nucleotide variant not provided [RCV004812927] Chr8:67095455 [GRCh38]
Chr8:68007690 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2128+33_2128+36del deletion not provided [RCV001588563] Chr8:67149948..67149951 [GRCh38]
Chr8:68062183..68062186 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1698-1G>C single nucleotide variant Joubert syndrome 21 [RCV001542098] Chr8:67131950 [GRCh38]
Chr8:68044185 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.303+290A>G single nucleotide variant not provided [RCV001555872] Chr8:67086400 [GRCh38]
Chr8:67998635 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1187+187del deletion not provided [RCV001639078] Chr8:67112235 [GRCh38]
Chr8:68024470 [GRCh37]
Chr8:8q13.2		 benign
NC_000008.11:g.67064343G>A single nucleotide variant not provided [RCV001572217] Chr8:67064343 [GRCh38]
Chr8:67976578 [GRCh37]
Chr8:8q13.1		 likely benign
NC_000008.11:g.67064144C>G single nucleotide variant not provided [RCV001666849] Chr8:67064144 [GRCh38]
Chr8:67976379 [GRCh37]
Chr8:8q13.1		 benign
NC_000008.11:g.67064342C>T single nucleotide variant not provided [RCV001586344] Chr8:67064342 [GRCh38]
Chr8:67976577 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1976-298dup duplication not provided [RCV001565344] Chr8:67149482..67149483 [GRCh38]
Chr8:68061717..68061718 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3331-220G>A single nucleotide variant not provided [RCV001567974] Chr8:67193244 [GRCh38]
Chr8:68105479 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1828-207A>C single nucleotide variant not provided [RCV001558294] Chr8:67137249 [GRCh38]
Chr8:68049484 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1828-111del deletion not provided [RCV001570831] Chr8:67137334 [GRCh38]
Chr8:68049569 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2129-95T>A single nucleotide variant not provided [RCV001620934] Chr8:67153929 [GRCh38]
Chr8:68066164 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2539-50G>A single nucleotide variant not provided [RCV001552494] Chr8:67161761 [GRCh38]
Chr8:68073996 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.966T>A (p.His322Gln) single nucleotide variant Inborn genetic diseases [RCV003252946] Chr8:67103079 [GRCh38]
Chr8:68015314 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2329A>C (p.Arg777=) single nucleotide variant Joubert syndrome 21 [RCV001454288] Chr8:67158534 [GRCh38]
Chr8:68070769 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.632G>T (p.Arg211Leu) single nucleotide variant CSPP1-related disorder [RCV003975497]|Joubert syndrome 21 [RCV000878563]|not provided [RCV001568588] Chr8:67095441 [GRCh38]
Chr8:68007676 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1195G>T (p.Asp399Tyr) single nucleotide variant not provided [RCV001767324] Chr8:67113812 [GRCh38]
Chr8:68026047 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1875A>G (p.Glu625=) single nucleotide variant Joubert syndrome 21 [RCV002540076] Chr8:67137503 [GRCh38]
Chr8:68049738 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2104G>T (p.Glu702Ter) single nucleotide variant Joubert syndrome 21 [RCV001046614] Chr8:67149911 [GRCh38]
Chr8:68062146 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1043C>A (p.Ser348Tyr) single nucleotide variant Inborn genetic diseases [RCV004034890]|Joubert syndrome 21 [RCV001247252] Chr8:67105925 [GRCh38]
Chr8:68018160 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1501G>A (p.Ala501Thr) single nucleotide variant Joubert syndrome 21 [RCV001236534] Chr8:67118252 [GRCh38]
Chr8:68030487 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.191G>A (p.Gly64Asp) single nucleotide variant Joubert syndrome 21 [RCV001227538] Chr8:67076573 [GRCh38]
Chr8:67988808 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1645C>G (p.Pro549Ala) single nucleotide variant Inborn genetic diseases [RCV003246792]|Joubert syndrome 21 [RCV001236919]|Retinal dystrophy [RCV004813960] Chr8:67118769 [GRCh38]
Chr8:68031004 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.19G>T (p.Glu7Ter) single nucleotide variant Joubert syndrome 21 [RCV001206028] Chr8:67074271 [GRCh38]
Chr8:67986506 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.1549C>T (p.Arg517Ter) single nucleotide variant Joubert syndrome 21 [RCV001066976] Chr8:67118300 [GRCh38]
Chr8:68030535 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1359A>C (p.Arg453Ser) single nucleotide variant Inborn genetic diseases [RCV004033775]|Joubert syndrome 21 [RCV001209477]|not provided [RCV001836969] Chr8:67115985 [GRCh38]
Chr8:68028220 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.11:g.(?_67010715)_(67064496_?)dup duplication Joubert syndrome 21 [RCV001033688] Chr8:67922950..67976731 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1187G>A (p.Arg396Gln) single nucleotide variant Joubert syndrome 21 [RCV001221087] Chr8:67112065 [GRCh38]
Chr8:68024300 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.849T>G (p.Ser283Arg) single nucleotide variant Inborn genetic diseases [RCV002561235]|Joubert syndrome 21 [RCV001206740]|not provided [RCV004695166] Chr8:67095658 [GRCh38]
Chr8:68007893 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2059G>T (p.Val687Leu) single nucleotide variant Joubert syndrome 21 [RCV001241584] Chr8:67149866 [GRCh38]
Chr8:68062101 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.941G>A (p.Arg314Gln) single nucleotide variant Inborn genetic diseases [RCV003284085]|Joubert syndrome 21 [RCV001228091] Chr8:67103054 [GRCh38]
Chr8:68015289 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3478A>G (p.Ser1160Gly) single nucleotide variant Retinal dystrophy [RCV004815887] Chr8:67195390 [GRCh38]
Chr8:68107625 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2504G>A (p.Cys835Tyr) single nucleotide variant Joubert syndrome 21 [RCV002573598]|Retinal dystrophy [RCV004817035]|not provided [RCV002469805] Chr8:67159103 [GRCh38]
Chr8:68071338 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8q13.1-13.2(chr8:67261729-68676568)x1 copy number loss not provided [RCV002472760] Chr8:67261729..68676568 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_001382391.1(CSPP1):c.99+304C>A single nucleotide variant not provided [RCV001689388] Chr8:67074655 [GRCh38]
Chr8:67986890 [GRCh37]
Chr8:8q13.1		 benign
NM_001382391.1(CSPP1):c.1093+279G>A single nucleotide variant not provided [RCV001561453] Chr8:67106254 [GRCh38]
Chr8:68018489 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3469+163A>G single nucleotide variant not provided [RCV001556378] Chr8:67193765 [GRCh38]
Chr8:68106000 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3464A>G (p.Asn1155Ser) single nucleotide variant Inborn genetic diseases [RCV003304220] Chr8:67193597 [GRCh38]
Chr8:68105832 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1643A>C (p.Gln548Pro) single nucleotide variant Inborn genetic diseases [RCV004973279]|Joubert syndrome 21 [RCV001044872]|not provided [RCV002269332] Chr8:67118767 [GRCh38]
Chr8:68031002 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8q13.1-13.2(chr8:67828205-68074172)x3 copy number gain not provided [RCV001006110] Chr8:67828205..68074172 [GRCh37]
Chr8:8q13.1-13.2		 likely benign
NM_001382391.1(CSPP1):c.1828-172A>C single nucleotide variant not provided [RCV001717241] Chr8:67137284 [GRCh38]
Chr8:68049519 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3330+237C>T single nucleotide variant not provided [RCV001717242] Chr8:67190996 [GRCh38]
Chr8:68103231 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2391+194T>A single nucleotide variant not provided [RCV001621379] Chr8:67158790 [GRCh38]
Chr8:68071025 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2128+35_2128+36del deletion Joubert syndrome 21 [RCV002073019]|not provided [RCV001657119] Chr8:67149948..67149949 [GRCh38]
Chr8:68062183..68062184 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.100-150C>A single nucleotide variant not provided [RCV001595380] Chr8:67076332 [GRCh38]
Chr8:67988567 [GRCh37]
Chr8:8q13.1		 benign
NM_001382391.1(CSPP1):c.2828+176A>G single nucleotide variant not provided [RCV001719258] Chr8:67164684 [GRCh38]
Chr8:68076919 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2129-260G>C single nucleotide variant not provided [RCV001686674] Chr8:67153764 [GRCh38]
Chr8:68065999 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2538+273A>G single nucleotide variant not provided [RCV001548649] Chr8:67159410 [GRCh38]
Chr8:68071645 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3330+238T>G single nucleotide variant not provided [RCV001596249] Chr8:67190997 [GRCh38]
Chr8:68103232 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3331-94C>T single nucleotide variant not provided [RCV001678287] Chr8:67193370 [GRCh38]
Chr8:68105605 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.1496+131A>G single nucleotide variant not provided [RCV001598988] Chr8:67116253 [GRCh38]
Chr8:68028488 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3188A>G (p.Asn1063Ser) single nucleotide variant Inborn genetic diseases [RCV002555852]|Joubert syndrome 21 [RCV001066592]|not provided [RCV002274133] Chr8:67179894 [GRCh38]
Chr8:68092129 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1497-3C>T single nucleotide variant Joubert syndrome 21 [RCV001046297] Chr8:67118245 [GRCh38]
Chr8:68030480 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.484-274G>A single nucleotide variant not provided [RCV001548313] Chr8:67095019 [GRCh38]
Chr8:68007254 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2987A>C (p.Asp996Ala) single nucleotide variant Inborn genetic diseases [RCV002552611]|Joubert syndrome 21 [RCV001046893] Chr8:67175314 [GRCh38]
Chr8:68087549 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2829-240dup duplication not provided [RCV001680834] Chr8:67172154..67172155 [GRCh38]
Chr8:68084389..68084390 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3220+110dup duplication not provided [RCV001690292] Chr8:67180023..67180024 [GRCh38]
Chr8:68092258..68092259 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.100-3C>T single nucleotide variant Joubert syndrome 21 [RCV001048004] Chr8:67076479 [GRCh38]
Chr8:67988714 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2128+34_2128+36del deletion Joubert syndrome 21 [RCV002073228]|not provided [RCV001690378] Chr8:67149948..67149950 [GRCh38]
Chr8:68062183..68062185 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2129-96T>A single nucleotide variant not provided [RCV001615832] Chr8:67153928 [GRCh38]
Chr8:68066163 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.3220+108_3220+110del deletion not provided [RCV001614600] Chr8:67180024..67180026 [GRCh38]
Chr8:68092259..68092261 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.274C>T (p.Arg92Trp) single nucleotide variant Inborn genetic diseases [RCV002552076]|Joubert syndrome 21 [RCV001035051] Chr8:67086081 [GRCh38]
Chr8:67998316 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3452A>G (p.Asn1151Ser) single nucleotide variant Inborn genetic diseases [RCV003283934]|Joubert syndrome 21 [RCV001059985] Chr8:67193585 [GRCh38]
Chr8:68105820 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.11:g.(?_67111972)_(67218138_?)dup duplication Joubert syndrome 21 [RCV001032443] Chr8:68024207..68130373 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2751A>C (p.Arg917Ser) single nucleotide variant Joubert syndrome 21 [RCV001060159]|not provided [RCV002051913] Chr8:67164431 [GRCh38]
Chr8:68076666 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3011C>T (p.Pro1004Leu) single nucleotide variant Joubert syndrome 21 [RCV001060348] Chr8:67175338 [GRCh38]
Chr8:68087573 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2701C>T (p.Arg901Cys) single nucleotide variant Inborn genetic diseases [RCV002551513]|Joubert syndrome 21 [RCV001042307] Chr8:67163789 [GRCh38]
Chr8:68076024 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2773A>G (p.Arg925Gly) single nucleotide variant Inborn genetic diseases [RCV002553905]|Joubert syndrome 21 [RCV001061529] Chr8:67164453 [GRCh38]
Chr8:68076688 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1325A>G (p.His442Arg) single nucleotide variant Joubert syndrome 21 [RCV001208581] Chr8:67115951 [GRCh38]
Chr8:68028186 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2981G>A (p.Arg994Gln) single nucleotide variant Joubert syndrome 21 [RCV001208673]|not provided [RCV001799743] Chr8:67175308 [GRCh38]
Chr8:68087543 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2234G>A (p.Arg745His) single nucleotide variant Joubert syndrome 21 [RCV001053711] Chr8:67154129 [GRCh38]
Chr8:68066364 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.254A>G (p.His85Arg) single nucleotide variant Inborn genetic diseases [RCV003246781]|Joubert syndrome 21 [RCV001230513] Chr8:67086061 [GRCh38]
Chr8:67998296 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.89T>C (p.Met30Thr) single nucleotide variant Joubert syndrome 21 [RCV001205997] Chr8:67074341 [GRCh38]
Chr8:67986576 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2379_2380del (p.Lys794fs) microsatellite Joubert syndrome 21 [RCV001054611] Chr8:67158579..67158580 [GRCh38]
Chr8:68070814..68070815 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.940C>T (p.Arg314Ter) single nucleotide variant Joubert syndrome 21 [RCV001232522] Chr8:67103053 [GRCh38]
Chr8:68015288 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.821A>G (p.His274Arg) single nucleotide variant Inborn genetic diseases [RCV003259150]|Joubert syndrome 21 [RCV001207360]|not provided [RCV004695168] Chr8:67095630 [GRCh38]
Chr8:68007865 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.-101A>G single nucleotide variant Joubert syndrome 21 [RCV001041124]|not provided [RCV003322842] Chr8:67064448 [GRCh38]
Chr8:67976683 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.15G>A (p.Leu5=) single nucleotide variant Joubert syndrome 21 [RCV001236523] Chr8:67074267 [GRCh38]
Chr8:67986502 [GRCh37]
Chr8:8q13.1		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.803T>A (p.Val268Asp) single nucleotide variant Joubert syndrome 21 [RCV001070592] Chr8:67095612 [GRCh38]
Chr8:68007847 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3109G>A (p.Val1037Ile) single nucleotide variant Inborn genetic diseases [RCV002552064]|Joubert syndrome 21 [RCV001034776]|not provided [RCV003432994] Chr8:67175436 [GRCh38]
Chr8:68087671 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.1540A>G (p.Thr514Ala) single nucleotide variant Joubert syndrome 21 [RCV001038286] Chr8:67118291 [GRCh38]
Chr8:68030526 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2381_2382del (p.Lys794fs) deletion Joubert syndrome 21 [RCV001175331] Chr8:67158585..67158586 [GRCh38]
Chr8:68070820..68070821 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.509C>A (p.Pro170His) single nucleotide variant Inborn genetic diseases [RCV004031639]|Joubert syndrome 21 [RCV001052370] Chr8:67095318 [GRCh38]
Chr8:68007553 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.148A>G (p.Met50Val) single nucleotide variant Inborn genetic diseases [RCV003346288]|Joubert syndrome 21 [RCV001057087]|not provided [RCV002305565] Chr8:67076530 [GRCh38]
Chr8:67988765 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1929A>T (p.Lys643Asn) single nucleotide variant Joubert syndrome 21 [RCV001233286] Chr8:67137557 [GRCh38]
Chr8:68049792 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.650A>G (p.Tyr217Cys) single nucleotide variant Joubert syndrome 21 [RCV001063581] Chr8:67095459 [GRCh38]
Chr8:68007694 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1600G>A (p.Asp534Asn) single nucleotide variant Inborn genetic diseases [RCV002538854]|not provided [RCV001765795] Chr8:67118351 [GRCh38]
Chr8:68030586 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.132dup (p.Lys45Ter) duplication Inborn genetic diseases [RCV005318748]|Joubert syndrome 21 [RCV001332556]|not provided [RCV005251275] Chr8:67076513..67076514 [GRCh38]
Chr8:67988748..67988749 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.3341G>A (p.Arg1114His) single nucleotide variant Joubert syndrome 21 [RCV001262917]|not provided [RCV001773578] Chr8:67193474 [GRCh38]
Chr8:68105709 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-143T>A single nucleotide variant Joubert syndrome 21 [RCV001908000]|not provided [RCV003434341] Chr8:67064406 [GRCh38]
Chr8:67976641 [GRCh37]
Chr8:8q13.1		 uncertain significance
GRCh37/hg19 8q13.1-13.2(chr8:67744375-68387850)x3 copy number gain not provided [RCV001258413] Chr8:67744375..68387850 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-149T>A single nucleotide variant Joubert syndrome 21 [RCV001349234] Chr8:67064400 [GRCh38]
Chr8:67976635 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1056T>A (p.Asn352Lys) single nucleotide variant Joubert syndrome 21 [RCV001350216] Chr8:67105938 [GRCh38]
Chr8:68018173 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2420G>A (p.Arg807Gln) single nucleotide variant Inborn genetic diseases [RCV002543783]|Joubert syndrome 21 [RCV001319717]|not provided [RCV001562837] Chr8:67159019 [GRCh38]
Chr8:68071254 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3653G>C (p.Trp1218Ser) single nucleotide variant Joubert syndrome 21 [RCV001301361] Chr8:67195565 [GRCh38]
Chr8:68107800 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2910G>C (p.Lys970Asn) single nucleotide variant Joubert syndrome 21 [RCV001295546] Chr8:67172497 [GRCh38]
Chr8:68084732 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.935A>G (p.Asn312Ser) single nucleotide variant Inborn genetic diseases [RCV004978299]|Joubert syndrome 21 [RCV001314183] Chr8:67103048 [GRCh38]
Chr8:68015283 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1703C>T (p.Thr568Met) single nucleotide variant Joubert syndrome 21 [RCV001327104] Chr8:67131956 [GRCh38]
Chr8:68044191 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2866G>T (p.Ala956Ser) single nucleotide variant Joubert syndrome 21 [RCV001319284] Chr8:67172453 [GRCh38]
Chr8:68084688 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(?_68024207)_(68130373_?)dup duplication Joubert syndrome 21 [RCV001305615] Chr8:68024207..68130373 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2018A>G (p.His673Arg) single nucleotide variant Joubert syndrome 21 [RCV001325997]|not provided [RCV005225369] Chr8:67149825 [GRCh38]
Chr8:68062060 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2226T>A (p.Asn742Lys) single nucleotide variant Joubert syndrome 21 [RCV001319793] Chr8:67154121 [GRCh38]
Chr8:68066356 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3040C>A (p.Gln1014Lys) single nucleotide variant Inborn genetic diseases [RCV004978362]|Joubert syndrome 21 [RCV001340212] Chr8:67175367 [GRCh38]
Chr8:68087602 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3292C>T (p.Arg1098Trp) single nucleotide variant Joubert syndrome 21 [RCV001332557] Chr8:67190721 [GRCh38]
Chr8:68102956 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.959T>G (p.Met320Arg) single nucleotide variant Joubert syndrome 21 [RCV001333224] Chr8:67103072 [GRCh38]
Chr8:68015307 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.8A>C (p.Asp3Ala) single nucleotide variant Joubert syndrome 21 [RCV001348479] Chr8:67074260 [GRCh38]
Chr8:67986495 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1975+4C>T single nucleotide variant Joubert syndrome 21 [RCV001320843] Chr8:67137607 [GRCh38]
Chr8:68049842 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-75C>T single nucleotide variant Joubert syndrome 21 [RCV001318628] Chr8:67064474 [GRCh38]
Chr8:67976709 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2121A>G (p.Lys707=) single nucleotide variant Joubert syndrome 21 [RCV001422524] Chr8:67149928 [GRCh38]
Chr8:68062163 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr) single nucleotide variant Joubert syndrome 21 [RCV001313918] Chr8:67172507 [GRCh38]
Chr8:68084742 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2301A>G (p.Glu767=) single nucleotide variant Joubert syndrome 21 [RCV001422282] Chr8:67158506 [GRCh38]
Chr8:68070741 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1544_1547del (p.Asn515fs) microsatellite Joubert syndrome 21 [RCV001382448] Chr8:67118291..67118294 [GRCh38]
Chr8:68030526..68030529 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2812G>C (p.Asp938His) single nucleotide variant Joubert syndrome 21 [RCV001352486] Chr8:67164492 [GRCh38]
Chr8:68076727 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2886T>A (p.Ala962=) single nucleotide variant Joubert syndrome 21 [RCV001433225] Chr8:67172473 [GRCh38]
Chr8:68084708 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1775C>G (p.Pro592Arg) single nucleotide variant CSPP1-related disorder [RCV004757406]|Inborn genetic diseases [RCV004035168]|Joubert syndrome 21 [RCV001325557] Chr8:67132028 [GRCh38]
Chr8:68044263 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2094T>C (p.Ala698=) single nucleotide variant Joubert syndrome 21 [RCV001433875] Chr8:67149901 [GRCh38]
Chr8:68062136 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3496G>C (p.Asp1166His) single nucleotide variant Joubert syndrome 21 [RCV001351278] Chr8:67195408 [GRCh38]
Chr8:68107643 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.958A>G (p.Met320Val) single nucleotide variant Inborn genetic diseases [RCV002548633]|Joubert syndrome 21 [RCV001369958] Chr8:67103071 [GRCh38]
Chr8:68015306 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.3579G>A (p.Thr1193=) single nucleotide variant Joubert syndrome 21 [RCV001392648] Chr8:67195491 [GRCh38]
Chr8:68107726 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1009G>T (p.Ala337Ser) single nucleotide variant Joubert syndrome 21 [RCV001294313] Chr8:67103122 [GRCh38]
Chr8:68015357 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.809A>T (p.Asp270Val) single nucleotide variant Joubert syndrome 21 [RCV001351831] Chr8:67095618 [GRCh38]
Chr8:68007853 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2241+9C>G single nucleotide variant Joubert syndrome 21 [RCV001323781] Chr8:67154145 [GRCh38]
Chr8:68066380 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1568C>A (p.Ala523Glu) single nucleotide variant Inborn genetic diseases [RCV003263985]|Joubert syndrome 21 [RCV001346373] Chr8:67118319 [GRCh38]
Chr8:68030554 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2284C>A (p.Leu762Met) single nucleotide variant Joubert syndrome 21 [RCV001373541]|not provided [RCV003433125] Chr8:67158489 [GRCh38]
Chr8:68070724 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.844G>T (p.Val282Leu) single nucleotide variant Joubert syndrome 21 [RCV001321517] Chr8:67095653 [GRCh38]
Chr8:68007888 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3472dup (p.Asp1158fs) duplication Joubert syndrome 21 [RCV001323878] Chr8:67195383..67195384 [GRCh38]
Chr8:68107618..68107619 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.11:g.67195383TGA[3] microsatellite Joubert syndrome 21 [RCV001362942] Chr8:67195380..67195381 [GRCh38]
Chr8:68107615..68107616 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(?_67786376)_(68165857_?)dup duplication Joubert syndrome 21 [RCV001346674] Chr8:67786376..68165857 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_001382391.1(CSPP1):c.989C>T (p.Ser330Leu) single nucleotide variant Joubert syndrome 21 [RCV001346703] Chr8:67103102 [GRCh38]
Chr8:68015337 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2524G>A (p.Gly842Arg) single nucleotide variant Joubert syndrome 21 [RCV001359070] Chr8:67159123 [GRCh38]
Chr8:68071358 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His) single nucleotide variant Joubert syndrome 21 [RCV001359167] Chr8:67095609 [GRCh38]
Chr8:68007844 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.902C>T (p.Ser301Leu) single nucleotide variant Joubert syndrome 21 [RCV001359424] Chr8:67095711 [GRCh38]
Chr8:68007946 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2702G>A (p.Arg901His) single nucleotide variant Joubert syndrome 21 [RCV001327473] Chr8:67163790 [GRCh38]
Chr8:68076025 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.303+3A>T single nucleotide variant Joubert syndrome 21 [RCV001320372]|not provided [RCV004692485] Chr8:67086113 [GRCh38]
Chr8:67998348 [GRCh37]
Chr8:8q13.1		 uncertain significance
NC_000008.10:g.(?_68105699)_(68105837_?)del deletion Joubert syndrome 21 [RCV001316683] Chr8:68105699..68105837 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(?_68024197)_(68107828_?)dup duplication Joubert syndrome 21 [RCV001316684] Chr8:68024197..68107828 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.761G>A (p.Gly254Asp) single nucleotide variant Joubert syndrome 21 [RCV001347044] Chr8:67095570 [GRCh38]
Chr8:68007805 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3355C>A (p.Pro1119Thr) single nucleotide variant Joubert syndrome 21 [RCV001361294] Chr8:67193488 [GRCh38]
Chr8:68105723 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3587G>A (p.Arg1196His) single nucleotide variant Inborn genetic diseases [RCV003169682]|Joubert syndrome 21 [RCV001346130] Chr8:67195499 [GRCh38]
Chr8:68107734 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2828+2C>T single nucleotide variant Joubert syndrome 21 [RCV001324274] Chr8:67164510 [GRCh38]
Chr8:68076745 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1571A>T (p.Tyr524Phe) single nucleotide variant Joubert syndrome 21 [RCV001346146] Chr8:67118322 [GRCh38]
Chr8:68030557 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1034A>G (p.Asn345Ser) single nucleotide variant Joubert syndrome 21 [RCV001313425] Chr8:67105916 [GRCh38]
Chr8:68018151 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2129-16A>G single nucleotide variant Joubert syndrome 21 [RCV001317956] Chr8:67154008 [GRCh38]
Chr8:68066243 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys) single nucleotide variant Joubert syndrome 21 [RCV001323449] Chr8:67161901 [GRCh38]
Chr8:68074136 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2114C>A (p.Ala705Glu) single nucleotide variant Joubert syndrome 21 [RCV001341437] Chr8:67149921 [GRCh38]
Chr8:68062156 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3533_3536dup (p.Val1180fs) duplication Joubert syndrome 21 [RCV001343033] Chr8:67195444..67195445 [GRCh38]
Chr8:68107679..68107680 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2409_2411del (p.Glu804del) deletion Joubert syndrome 21 [RCV001349993] Chr8:67159006..67159008 [GRCh38]
Chr8:68071241..68071243 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2419C>T (p.Arg807Trp) single nucleotide variant Inborn genetic diseases [RCV002548555]|Joubert syndrome 21 [RCV001363610] Chr8:67159018 [GRCh38]
Chr8:68071253 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1138A>G (p.Arg380Gly) single nucleotide variant Joubert syndrome 21 [RCV001300946] Chr8:67112016 [GRCh38]
Chr8:68024251 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2464GAA[3] (p.Glu825del) microsatellite Joubert syndrome 21 [RCV001322560] Chr8:67159061..67159063 [GRCh38]
Chr8:68071296..68071298 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1502C>T (p.Ala501Val) single nucleotide variant Joubert syndrome 21 [RCV001360010] Chr8:67118253 [GRCh38]
Chr8:68030488 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3040C>G (p.Gln1014Glu) single nucleotide variant Joubert syndrome 21 [RCV001363778] Chr8:67175367 [GRCh38]
Chr8:68087602 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2387A>G (p.Glu796Gly) single nucleotide variant Joubert syndrome 21 [RCV001370976] Chr8:67158592 [GRCh38]
Chr8:68070827 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-128C>T single nucleotide variant CSPP1-related disorder [RCV004757404]|Joubert syndrome 21 [RCV001319719] Chr8:67064421 [GRCh38]
Chr8:67976656 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.-10-5T>A single nucleotide variant Joubert syndrome 21 [RCV001364530] Chr8:67074238 [GRCh38]
Chr8:67986473 [GRCh37]
Chr8:8q13.1		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.1767_1769del (p.Glu589del) deletion Joubert syndrome 21 [RCV001359875] Chr8:67132018..67132020 [GRCh38]
Chr8:68044253..68044255 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3529T>G (p.Ser1177Ala) single nucleotide variant Joubert syndrome 21 [RCV001350382]|not provided [RCV002545627] Chr8:67195441 [GRCh38]
Chr8:68107676 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.*3_*6dup (p.Ter1227=) duplication Joubert syndrome 21 [RCV001324825] Chr8:67195592..67195593 [GRCh38]
Chr8:68107827..68107828 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2129G>T (p.Gly710Val) single nucleotide variant Joubert syndrome 21 [RCV001337637] Chr8:67154024 [GRCh38]
Chr8:68066259 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3613G>C (p.Glu1205Gln) single nucleotide variant Joubert syndrome 21 [RCV001371159] Chr8:67195525 [GRCh38]
Chr8:68107760 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2245G>A (p.Glu749Lys) single nucleotide variant Joubert syndrome 21 [RCV001366546] Chr8:67158450 [GRCh38]
Chr8:68070685 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2522T>C (p.Ile841Thr) single nucleotide variant Inborn genetic diseases [RCV004035146]|Joubert syndrome 21 [RCV001324953] Chr8:67159121 [GRCh38]
Chr8:68071356 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.3361G>A (p.Gly1121Ser) single nucleotide variant Joubert syndrome 21 [RCV001305709] Chr8:67193494 [GRCh38]
Chr8:68105729 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.769G>T (p.Asp257Tyr) single nucleotide variant Inborn genetic diseases [RCV005318705]|Joubert syndrome 21 [RCV001296227]|not provided [RCV001562169] Chr8:67095578 [GRCh38]
Chr8:68007813 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2692A>C (p.Asn898His) single nucleotide variant Joubert syndrome 21 [RCV001314883] Chr8:67163780 [GRCh38]
Chr8:68076015 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-80C>G single nucleotide variant Joubert syndrome 21 [RCV001367603] Chr8:67064469 [GRCh38]
Chr8:67976704 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1827+5T>C single nucleotide variant Joubert syndrome 21 [RCV001369359] Chr8:67132085 [GRCh38]
Chr8:68044320 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.797A>G (p.Asp266Gly) single nucleotide variant Joubert syndrome 21 [RCV001296577] Chr8:67095606 [GRCh38]
Chr8:68007841 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3520G>C (p.Asp1174His) single nucleotide variant Joubert syndrome 21 [RCV001325759] Chr8:67195432 [GRCh38]
Chr8:68107667 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.500A>G (p.Asn167Ser) single nucleotide variant Joubert syndrome 21 [RCV001303489] Chr8:67095309 [GRCh38]
Chr8:68007544 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2521_2524del (p.Ile841fs) deletion Joubert syndrome 21 [RCV001333223] Chr8:67159117..67159120 [GRCh38]
Chr8:68071352..68071355 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3109+5G>C single nucleotide variant Joubert syndrome 21 [RCV001365710] Chr8:67175441 [GRCh38]
Chr8:68087676 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1497-13T>C single nucleotide variant Joubert syndrome 21 [RCV001494756] Chr8:67118235 [GRCh38]
Chr8:68030470 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1515A>G (p.Pro505=) single nucleotide variant Joubert syndrome 21 [RCV001505594] Chr8:67118266 [GRCh38]
Chr8:68030501 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2199G>A (p.Gln733=) single nucleotide variant Joubert syndrome 21 [RCV001450462] Chr8:67154094 [GRCh38]
Chr8:68066329 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2316G>A (p.Arg772=) single nucleotide variant Joubert syndrome 21 [RCV001441401] Chr8:67158521 [GRCh38]
Chr8:68070756 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2968+10T>C single nucleotide variant Joubert syndrome 21 [RCV001467223] Chr8:67172565 [GRCh38]
Chr8:68084800 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2772G>A (p.Glu924=) single nucleotide variant Joubert syndrome 21 [RCV001451618]|not provided [RCV003434236] Chr8:67164452 [GRCh38]
Chr8:68076687 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2980C>T (p.Arg994Ter) single nucleotide variant Joubert syndrome 21 [RCV001380746] Chr8:67175307 [GRCh38]
Chr8:68087542 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3157-15A>G single nucleotide variant Joubert syndrome 21 [RCV001475486] Chr8:67179848 [GRCh38]
Chr8:68092083 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.744G>A (p.Arg248=) single nucleotide variant Joubert syndrome 21 [RCV001402791] Chr8:67095553 [GRCh38]
Chr8:68007788 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1995C>T (p.His665=) single nucleotide variant CSPP1-related disorder [RCV003973242]|Joubert syndrome 21 [RCV001405498] Chr8:67149802 [GRCh38]
Chr8:68062037 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2829-6C>A single nucleotide variant CSPP1-related disorder [RCV003921021]|Joubert syndrome 21 [RCV001482838] Chr8:67172410 [GRCh38]
Chr8:68084645 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2619C>T (p.Asp873=) single nucleotide variant Joubert syndrome 21 [RCV001497151] Chr8:67161891 [GRCh38]
Chr8:68074126 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2688G>A (p.Arg896=) single nucleotide variant Joubert syndrome 21 [RCV001442182] Chr8:67163776 [GRCh38]
Chr8:68076011 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.972G>C (p.Gly324=) single nucleotide variant Joubert syndrome 21 [RCV001405720] Chr8:67103085 [GRCh38]
Chr8:68015320 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1623T>C (p.Gly541=) single nucleotide variant Joubert syndrome 21 [RCV001497873] Chr8:67118747 [GRCh38]
Chr8:68030982 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.285C>T (p.Tyr95=) single nucleotide variant Joubert syndrome 21 [RCV001489549] Chr8:67086092 [GRCh38]
Chr8:67998327 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2128+1G>A single nucleotide variant Joubert syndrome 21 [RCV001377061] Chr8:67149936 [GRCh38]
Chr8:68062171 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.2784A>G (p.Gln928=) single nucleotide variant Joubert syndrome 21 [RCV001467402] Chr8:67164464 [GRCh38]
Chr8:68076699 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.123T>G (p.Ser41=) single nucleotide variant Joubert syndrome 21 [RCV001474842] Chr8:67076505 [GRCh38]
Chr8:67988740 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.214T>C (p.Leu72=) single nucleotide variant CSPP1-related disorder [RCV004757429]|Joubert syndrome 21 [RCV001409582] Chr8:67086021 [GRCh38]
Chr8:67998256 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2032A>C (p.Arg678=) single nucleotide variant Joubert syndrome 21 [RCV001406982] Chr8:67149839 [GRCh38]
Chr8:68062074 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.489G>A (p.Lys163=) single nucleotide variant Joubert syndrome 21 [RCV001407637] Chr8:67095298 [GRCh38]
Chr8:68007533 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2643+7A>G single nucleotide variant Joubert syndrome 21 [RCV001444562] Chr8:67161922 [GRCh38]
Chr8:68074157 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2539-5T>C single nucleotide variant Joubert syndrome 21 [RCV001436323] Chr8:67161806 [GRCh38]
Chr8:68074041 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2953G>A (p.Glu985Lys) single nucleotide variant Joubert syndrome 21 [RCV001405956]|not provided [RCV005253845] Chr8:67172540 [GRCh38]
Chr8:68084775 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.199+14T>A single nucleotide variant Joubert syndrome 21 [RCV001442493] Chr8:67076595 [GRCh38]
Chr8:67988830 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.-76C>T single nucleotide variant Joubert syndrome 21 [RCV001415936] Chr8:67064473 [GRCh38]
Chr8:67976708 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2919C>T (p.Asp973=) single nucleotide variant Joubert syndrome 21 [RCV001411009] Chr8:67172506 [GRCh38]
Chr8:68084741 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3258C>T (p.Asp1086=) single nucleotide variant CSPP1-related disorder [RCV003938755]|Joubert syndrome 21 [RCV001434970] Chr8:67190687 [GRCh38]
Chr8:68102922 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1470C>T (p.Ser490=) single nucleotide variant Joubert syndrome 21 [RCV001411278]|not provided [RCV001565352] Chr8:67116096 [GRCh38]
Chr8:68028331 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3406_3407insTATA (p.Arg1136delinsIleTer) microsatellite Joubert syndrome 21 [RCV001385755] Chr8:67193537..67193538 [GRCh38]
Chr8:68105772..68105773 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.-96C>T single nucleotide variant Joubert syndrome 21 [RCV001404211] Chr8:67064453 [GRCh38]
Chr8:67976688 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2841G>A (p.Arg947=) single nucleotide variant Joubert syndrome 21 [RCV001448363] Chr8:67172428 [GRCh38]
Chr8:68084663 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.496A>C (p.Arg166=) single nucleotide variant Joubert syndrome 21 [RCV001440687] Chr8:67095305 [GRCh38]
Chr8:68007540 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2829-218A>G single nucleotide variant not provided [RCV001655324] Chr8:67172198 [GRCh38]
Chr8:68084433 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2242-19A>T single nucleotide variant Joubert syndrome 21 [RCV001482656] Chr8:67158428 [GRCh38]
Chr8:68070663 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2969-252A>G single nucleotide variant not provided [RCV001686288] Chr8:67175044 [GRCh38]
Chr8:68087279 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.1023-20del deletion Joubert syndrome 21 [RCV001519841] Chr8:67105885 [GRCh38]
Chr8:68018120 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.1094-152_1094-150del microsatellite not provided [RCV001691131] Chr8:67111816..67111818 [GRCh38]
Chr8:68024051..68024053 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.1187+187T>G single nucleotide variant not provided [RCV001589404] Chr8:67112252 [GRCh38]
Chr8:68024487 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2538+145A>C single nucleotide variant not provided [RCV001686374] Chr8:67159282 [GRCh38]
Chr8:68071517 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.1638C>T (p.Gly546=) single nucleotide variant Joubert syndrome 21 [RCV001500366] Chr8:67118762 [GRCh38]
Chr8:68030997 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-82G>C single nucleotide variant Joubert syndrome 21 [RCV001466992] Chr8:67064467 [GRCh38]
Chr8:67976702 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2391+7C>G single nucleotide variant Joubert syndrome 21 [RCV001489080] Chr8:67158603 [GRCh38]
Chr8:68070838 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1827+249C>G single nucleotide variant not provided [RCV001670197] Chr8:67132329 [GRCh38]
Chr8:68044564 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.-11+166dup duplication not provided [RCV001710671] Chr8:67064700..67064701 [GRCh38]
Chr8:67976935..67976936 [GRCh37]
Chr8:8q13.1		 benign
NM_001382391.1(CSPP1):c.3661C>T (p.Leu1221=) single nucleotide variant Joubert syndrome 21 [RCV001441974] Chr8:67195573 [GRCh38]
Chr8:68107808 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.297T>C (p.Leu99=) single nucleotide variant Joubert syndrome 21 [RCV001473071] Chr8:67086104 [GRCh38]
Chr8:67998339 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2539-13_2539-4del deletion Joubert syndrome 21 [RCV001485851] Chr8:67161794..67161803 [GRCh38]
Chr8:68074029..68074038 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.532C>T (p.Leu178=) single nucleotide variant Joubert syndrome 21 [RCV001497800] Chr8:67095341 [GRCh38]
Chr8:68007576 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.666T>C (p.Asp222=) single nucleotide variant Joubert syndrome 21 [RCV001504711] Chr8:67095475 [GRCh38]
Chr8:68007710 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2539-4del deletion Joubert syndrome 21 [RCV001518829] Chr8:67161803 [GRCh38]
Chr8:68074038 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.1023-9T>C single nucleotide variant Joubert syndrome 21 [RCV001452532] Chr8:67105896 [GRCh38]
Chr8:68018131 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.924-11G>A single nucleotide variant Joubert syndrome 21 [RCV001513397]|not provided [RCV001567211] Chr8:67103026 [GRCh38]
Chr8:68015261 [GRCh37]
Chr8:8q13.2		 benign|likely benign
NM_001382391.1(CSPP1):c.1872A>G (p.Lys624=) single nucleotide variant Joubert syndrome 21 [RCV001442826] Chr8:67137500 [GRCh38]
Chr8:68049735 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.200-5dup duplication CSPP1-related disorder [RCV003921110]|Joubert syndrome 21 [RCV001514949] Chr8:67085994..67085995 [GRCh38]
Chr8:67998229..67998230 [GRCh37]
Chr8:8q13.1		 benign|likely benign
NM_001382391.1(CSPP1):c.1619-4T>C single nucleotide variant Joubert syndrome 21 [RCV001467548] Chr8:67118739 [GRCh38]
Chr8:68030974 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3387T>C (p.Ser1129=) single nucleotide variant Joubert syndrome 21 [RCV001451746] Chr8:67193520 [GRCh38]
Chr8:68105755 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1911A>T (p.Thr637=) single nucleotide variant Joubert syndrome 21 [RCV001418140] Chr8:67137539 [GRCh38]
Chr8:68049774 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3331-7A>C single nucleotide variant Joubert syndrome 21 [RCV001500800] Chr8:67193457 [GRCh38]
Chr8:68105692 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3156+16C>A single nucleotide variant Joubert syndrome 21 [RCV001436807] Chr8:67177742 [GRCh38]
Chr8:68089977 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.964C>T (p.His322Tyr) single nucleotide variant CSPP1-related disorder [RCV004757426]|Joubert syndrome 21 [RCV001400146] Chr8:67103077 [GRCh38]
Chr8:68015312 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1569A>T (p.Ala523=) single nucleotide variant Joubert syndrome 21 [RCV001503899] Chr8:67118320 [GRCh38]
Chr8:68030555 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2129-2A>G single nucleotide variant Joubert syndrome 21 [RCV001377434] Chr8:67154022 [GRCh38]
Chr8:68066257 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.-112G>C single nucleotide variant Joubert syndrome 21 [RCV001485462]|not provided [RCV004809637] Chr8:67064437 [GRCh38]
Chr8:67976672 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.3331-10C>T single nucleotide variant Joubert syndrome 21 [RCV001418830] Chr8:67193454 [GRCh38]
Chr8:68105689 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1554T>G (p.Thr518=) single nucleotide variant Joubert syndrome 21 [RCV001472368] Chr8:67118305 [GRCh38]
Chr8:68030540 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3420G>A (p.Glu1140=) single nucleotide variant Joubert syndrome 21 [RCV001462378] Chr8:67193553 [GRCh38]
Chr8:68105788 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.414A>G (p.Glu138=) single nucleotide variant Joubert syndrome 21 [RCV001399298] Chr8:67093572 [GRCh38]
Chr8:68005807 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.3232G>C (p.Glu1078Gln) single nucleotide variant Joubert syndrome 21 [RCV003108844] Chr8:67190661 [GRCh38]
Chr8:68102896 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2804A>G (p.Asp935Gly) single nucleotide variant Inborn genetic diseases [RCV004040007]|Joubert syndrome 21 [RCV002538688]|not provided [RCV001727453] Chr8:67164484 [GRCh38]
Chr8:68076719 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-85T>C single nucleotide variant Joubert syndrome 21 [RCV002186369] Chr8:67064464 [GRCh38]
Chr8:67976699 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1187+19T>A single nucleotide variant Joubert syndrome 21 [RCV003104753] Chr8:67112084 [GRCh38]
Chr8:68024319 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.271T>A (p.Leu91Met) single nucleotide variant Inborn genetic diseases [RCV002540312]|Joubert syndrome 21 [RCV001861112]|not provided [RCV001760693] Chr8:67086078 [GRCh38]
Chr8:67998313 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1222G>C (p.Gly408Arg) single nucleotide variant not provided [RCV001772739] Chr8:67113839 [GRCh38]
Chr8:68026074 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.400G>C (p.Glu134Gln) single nucleotide variant Inborn genetic diseases [RCV003264078]|not provided [RCV001773830] Chr8:67093558 [GRCh38]
Chr8:68005793 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.973G>A (p.Asp325Asn) single nucleotide variant not provided [RCV001754946] Chr8:67103086 [GRCh38]
Chr8:68015321 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.758C>T (p.Ala253Val) single nucleotide variant not provided [RCV001769453] Chr8:67095567 [GRCh38]
Chr8:68007802 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1976C>G (p.Thr659Ser) single nucleotide variant not provided [RCV001771103] Chr8:67149783 [GRCh38]
Chr8:68062018 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1186C>T (p.Arg396Ter) single nucleotide variant Joubert syndrome 21 [RCV001775247] Chr8:67112064 [GRCh38]
Chr8:68024299 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2332G>A (p.Ala778Thr) single nucleotide variant Joubert syndrome 21 [RCV002034637]|not provided [RCV001787672] Chr8:67158537 [GRCh38]
Chr8:68070772 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1217C>T (p.Ala406Val) single nucleotide variant Joubert syndrome 21 [RCV002544376]|not provided [RCV001800075] Chr8:67113834 [GRCh38]
Chr8:68026069 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3142C>T (p.Arg1048Ter) single nucleotide variant Joubert syndrome 21 [RCV001780586] Chr8:67177712 [GRCh38]
Chr8:68089947 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2538+1G>T single nucleotide variant Joubert syndrome 21 [RCV001780587] Chr8:67159138 [GRCh38]
Chr8:68071373 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2552del (p.Pro851fs) deletion Joubert syndrome 21 [RCV001780886] Chr8:67161823 [GRCh38]
Chr8:68074058 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.1793C>T (p.Ser598Leu) single nucleotide variant Joubert syndrome 21 [RCV001868588]|not provided [RCV001769319] Chr8:67132046 [GRCh38]
Chr8:68044281 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2006T>C (p.Ile669Thr) single nucleotide variant Joubert syndrome 21 [RCV002539902]|not provided [RCV001758035] Chr8:67149813 [GRCh38]
Chr8:68062048 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2008G>A (p.Asp670Asn) single nucleotide variant not provided [RCV001758752] Chr8:67149815 [GRCh38]
Chr8:68062050 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1957G>A (p.Ala653Thr) single nucleotide variant not provided [RCV001786860] Chr8:67137585 [GRCh38]
Chr8:68049820 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1822C>T (p.Gln608Ter) single nucleotide variant Joubert syndrome 21 [RCV001780585] Chr8:67132075 [GRCh38]
Chr8:68044310 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1684G>A (p.Ala562Thr) single nucleotide variant Joubert syndrome 21 [RCV002544104]|not provided [RCV001752813] Chr8:67118808 [GRCh38]
Chr8:68031043 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2903C>A (p.Ser968Tyr) single nucleotide variant not provided [RCV004801501] Chr8:67172490 [GRCh38]
Chr8:68084725 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-150A>C single nucleotide variant not specified [RCV001822817] Chr8:67064399 [GRCh38]
Chr8:67976634 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.262A>G (p.Lys88Glu) single nucleotide variant Joubert syndrome 21 [RCV001874641] Chr8:67086069 [GRCh38]
Chr8:67998304 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.275G>A (p.Arg92Gln) single nucleotide variant Joubert syndrome 21 [RCV002043857] Chr8:67086082 [GRCh38]
Chr8:67998317 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1834G>T (p.Glu612Ter) single nucleotide variant Joubert syndrome 21 [RCV001949545] Chr8:67137462 [GRCh38]
Chr8:68049697 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1416A>G (p.Pro472=) single nucleotide variant Joubert syndrome 21 [RCV001896555] Chr8:67116042 [GRCh38]
Chr8:68028277 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NC_000008.10:g.(?_68105679)_(68105857_?)del deletion Joubert syndrome 21 [RCV001950636] Chr8:68105679..68105857 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1928A>G (p.Lys643Arg) single nucleotide variant Joubert syndrome 21 [RCV001929579] Chr8:67137556 [GRCh38]
Chr8:68049791 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.513T>A (p.Ile171=) single nucleotide variant Joubert syndrome 21 [RCV001950387] Chr8:67095322 [GRCh38]
Chr8:68007557 [GRCh37]
Chr8:8q13.1		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.289C>T (p.Arg97Cys) single nucleotide variant Inborn genetic diseases [RCV004046250]|Joubert syndrome 21 [RCV002040436] Chr8:67086096 [GRCh38]
Chr8:67998331 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser) single nucleotide variant Joubert syndrome 21 [RCV001823498] Chr8:67190658 [GRCh38]
Chr8:68102893 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3029C>T (p.Thr1010Ile) single nucleotide variant Joubert syndrome 21 [RCV001863525] Chr8:67175356 [GRCh38]
Chr8:68087591 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2677G>A (p.Val893Ile) single nucleotide variant Joubert syndrome 21 [RCV001950082] Chr8:67163765 [GRCh38]
Chr8:68076000 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala) single nucleotide variant Joubert syndrome 21 [RCV001971230] Chr8:67115998 [GRCh38]
Chr8:68028233 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2305GAA[1] (p.Glu770del) microsatellite Joubert syndrome 21 [RCV001864528] Chr8:67158508..67158510 [GRCh38]
Chr8:68070743..68070745 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1241A>T (p.Lys414Ile) single nucleotide variant Inborn genetic diseases [RCV004042339]|Joubert syndrome 21 [RCV001971537] Chr8:67113858 [GRCh38]
Chr8:68026093 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2906C>G (p.Pro969Arg) single nucleotide variant Joubert syndrome 21 [RCV002024294] Chr8:67172493 [GRCh38]
Chr8:68084728 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.32A>C (p.Glu11Ala) single nucleotide variant Joubert syndrome 21 [RCV001872286] Chr8:67074284 [GRCh38]
Chr8:67986519 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2066T>C (p.Leu689Pro) single nucleotide variant Joubert syndrome 21 [RCV001908161] Chr8:67149873 [GRCh38]
Chr8:68062108 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3620A>G (p.Gln1207Arg) single nucleotide variant Inborn genetic diseases [RCV004612072]|Joubert syndrome 21 [RCV002008355] Chr8:67195532 [GRCh38]
Chr8:68107767 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2654T>C (p.Met885Thr) single nucleotide variant Joubert syndrome 21 [RCV002007840] Chr8:67163742 [GRCh38]
Chr8:68075977 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3559C>T (p.Arg1187Cys) single nucleotide variant Joubert syndrome 21 [RCV001949923] Chr8:67195471 [GRCh38]
Chr8:68107706 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2234G>C (p.Arg745Pro) single nucleotide variant Joubert syndrome 21 [RCV001896106] Chr8:67154129 [GRCh38]
Chr8:68066364 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1336A>G (p.Met446Val) single nucleotide variant Joubert syndrome 21 [RCV001929479] Chr8:67115962 [GRCh38]
Chr8:68028197 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2480A>G (p.Tyr827Cys) single nucleotide variant Inborn genetic diseases [RCV004041905]|Joubert syndrome 21 [RCV001950122] Chr8:67159079 [GRCh38]
Chr8:68071314 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.865A>G (p.Arg289Gly) single nucleotide variant Joubert syndrome 21 [RCV001863872]|not provided [RCV004693807] Chr8:67095674 [GRCh38]
Chr8:68007909 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2789G>A (p.Arg930Gln) single nucleotide variant Joubert syndrome 21 [RCV001864049] Chr8:67164469 [GRCh38]
Chr8:68076704 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1124G>A (p.Arg375Lys) single nucleotide variant Joubert syndrome 21 [RCV001892066] Chr8:67112002 [GRCh38]
Chr8:68024237 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.870T>G (p.Phe290Leu) single nucleotide variant Joubert syndrome 21 [RCV001970331] Chr8:67095679 [GRCh38]
Chr8:68007914 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2807G>A (p.Ser936Asn) single nucleotide variant Joubert syndrome 21 [RCV001914688] Chr8:67164487 [GRCh38]
Chr8:68076722 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1787_1790del (p.Lys596fs) deletion CSPP1-related disorder [RCV004731211]|Joubert syndrome 21 [RCV002007270] Chr8:67132038..67132041 [GRCh38]
Chr8:68044273..68044276 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2056G>C (p.Val686Leu) single nucleotide variant Inborn genetic diseases [RCV002551033]|Joubert syndrome 21 [RCV001874439] Chr8:67149863 [GRCh38]
Chr8:68062098 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1574A>G (p.Tyr525Cys) single nucleotide variant Joubert syndrome 21 [RCV002003274] Chr8:67118325 [GRCh38]
Chr8:68030560 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.404G>A (p.Arg135His) single nucleotide variant Inborn genetic diseases [RCV003161174]|Joubert syndrome 21 [RCV002009365] Chr8:67093562 [GRCh38]
Chr8:68005797 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2336G>A (p.Arg779Gln) single nucleotide variant Joubert syndrome 21 [RCV001965846] Chr8:67158541 [GRCh38]
Chr8:68070776 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.18T>A (p.Asp6Glu) single nucleotide variant Joubert syndrome 21 [RCV002006701] Chr8:67074270 [GRCh38]
Chr8:67986505 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.632G>A (p.Arg211Gln) single nucleotide variant Joubert syndrome 21 [RCV001911520] Chr8:67095441 [GRCh38]
Chr8:68007676 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2533A>T (p.Thr845Ser) single nucleotide variant Joubert syndrome 21 [RCV002020715] Chr8:67159132 [GRCh38]
Chr8:68071367 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1187G>C (p.Arg396Pro) single nucleotide variant Joubert syndrome 21 [RCV002022427] Chr8:67112065 [GRCh38]
Chr8:68024300 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3478_3479del (p.Ser1160fs) microsatellite Joubert syndrome 21 [RCV001891970] Chr8:67195387..67195388 [GRCh38]
Chr8:68107622..68107623 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.697A>G (p.Lys233Glu) single nucleotide variant Joubert syndrome 21 [RCV002004608] Chr8:67095506 [GRCh38]
Chr8:68007741 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3457C>T (p.Pro1153Ser) single nucleotide variant Inborn genetic diseases [RCV002548871]|Joubert syndrome 21 [RCV002041048] Chr8:67193590 [GRCh38]
Chr8:68105825 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.606A>G (p.Ala202=) single nucleotide variant Joubert syndrome 21 [RCV002005769] Chr8:67095415 [GRCh38]
Chr8:68007650 [GRCh37]
Chr8:8q13.1		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.1209G>T (p.Arg403Ser) single nucleotide variant Joubert syndrome 21 [RCV002042221] Chr8:67113826 [GRCh38]
Chr8:68026061 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1619A>G (p.Tyr540Cys) single nucleotide variant Inborn genetic diseases [RCV002563582]|Joubert syndrome 21 [RCV002004768] Chr8:67118743 [GRCh38]
Chr8:68030978 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2425G>A (p.Ala809Thr) single nucleotide variant Joubert syndrome 21 [RCV002041117] Chr8:67159024 [GRCh38]
Chr8:68071259 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1937G>A (p.Gly646Asp) single nucleotide variant Joubert syndrome 21 [RCV002006411] Chr8:67137565 [GRCh38]
Chr8:68049800 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1188-10T>C single nucleotide variant Joubert syndrome 21 [RCV001927062] Chr8:67113795 [GRCh38]
Chr8:68026030 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.2129G>C (p.Gly710Ala) single nucleotide variant Joubert syndrome 21 [RCV001986508] Chr8:67154024 [GRCh38]
Chr8:68066259 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-69C>T single nucleotide variant Joubert syndrome 21 [RCV002041902]|Joubert syndrome [RCV005415621] Chr8:67064480 [GRCh38]
Chr8:67976715 [GRCh37]
Chr8:8q13.1		 pathogenic|likely pathogenic
NM_001382391.1(CSPP1):c.2161C>T (p.Arg721Trp) single nucleotide variant Joubert syndrome 21 [RCV001983250] Chr8:67154056 [GRCh38]
Chr8:68066291 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.653G>A (p.Arg218Gln) single nucleotide variant Joubert syndrome 21 [RCV002040408] Chr8:67095462 [GRCh38]
Chr8:68007697 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1030G>T (p.Asp344Tyr) single nucleotide variant Joubert syndrome 21 [RCV001928235] Chr8:67105912 [GRCh38]
Chr8:68018147 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2174T>C (p.Phe725Ser) single nucleotide variant Joubert syndrome 21 [RCV002005075] Chr8:67154069 [GRCh38]
Chr8:68066304 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2525G>A (p.Gly842Glu) single nucleotide variant Joubert syndrome 21 [RCV002005979] Chr8:67159124 [GRCh38]
Chr8:68071359 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1842A>C (p.Glu614Asp) single nucleotide variant Joubert syndrome 21 [RCV001890107] Chr8:67137470 [GRCh38]
Chr8:68049705 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3236C>T (p.Thr1079Ile) single nucleotide variant Joubert syndrome 21 [RCV001872734] Chr8:67190665 [GRCh38]
Chr8:68102900 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.875A>G (p.Tyr292Cys) single nucleotide variant Joubert syndrome 21 [RCV002007683] Chr8:67095684 [GRCh38]
Chr8:68007919 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1315G>A (p.Ala439Thr) single nucleotide variant Joubert syndrome 21 [RCV001987440] Chr8:67115941 [GRCh38]
Chr8:68028176 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8q13.1-13.2(chr8:66045954-69807260)x1 copy number loss not provided [RCV001836560] Chr8:66045954..69807260 [GRCh37]
Chr8:8q13.1-13.2		 pathogenic
NM_001382391.1(CSPP1):c.1505del (p.Pro502fs) deletion Joubert syndrome 21 [RCV001894408] Chr8:67118255 [GRCh38]
Chr8:68030490 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2563G>C (p.Val855Leu) single nucleotide variant Joubert syndrome 21 [RCV001894899] Chr8:67161835 [GRCh38]
Chr8:68074070 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2624T>C (p.Ile875Thr) single nucleotide variant Inborn genetic diseases [RCV002555602]|Joubert syndrome 21 [RCV001893745] Chr8:67161896 [GRCh38]
Chr8:68074131 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1115T>C (p.Ile372Thr) single nucleotide variant Inborn genetic diseases [RCV002545489]|Joubert syndrome 21 [RCV002007012] Chr8:67111993 [GRCh38]
Chr8:68024228 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.683A>G (p.Asn228Ser) single nucleotide variant Joubert syndrome 21 [RCV001890522] Chr8:67095492 [GRCh38]
Chr8:68007727 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2510G>A (p.Arg837Lys) single nucleotide variant Joubert syndrome 21 [RCV001892619] Chr8:67159109 [GRCh38]
Chr8:68071344 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1454G>T (p.Arg485Leu) single nucleotide variant Joubert syndrome 21 [RCV001947972] Chr8:67116080 [GRCh38]
Chr8:68028315 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3268C>T (p.Pro1090Ser) single nucleotide variant Joubert syndrome 21 [RCV001948643] Chr8:67190697 [GRCh38]
Chr8:68102932 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1997G>A (p.Arg666Lys) single nucleotide variant Joubert syndrome 21 [RCV001893167] Chr8:67149804 [GRCh38]
Chr8:68062039 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3221-9T>A single nucleotide variant Joubert syndrome 21 [RCV001985675] Chr8:67190641 [GRCh38]
Chr8:68102876 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
GRCh37/hg19 8q12.3-13.2(chr8:65194424-68570319) copy number loss not specified [RCV002053768] Chr8:65194424..68570319 [GRCh37]
Chr8:8q12.3-13.2		 pathogenic
NM_001382391.1(CSPP1):c.1433C>G (p.Pro478Arg) single nucleotide variant Joubert syndrome 21 [RCV002023007] Chr8:67116059 [GRCh38]
Chr8:68028294 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.280G>A (p.Asp94Asn) single nucleotide variant Joubert syndrome 21 [RCV001889683] Chr8:67086087 [GRCh38]
Chr8:67998322 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2048A>C (p.Lys683Thr) single nucleotide variant Joubert syndrome 21 [RCV001986284] Chr8:67149855 [GRCh38]
Chr8:68062090 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3479G>C (p.Ser1160Thr) single nucleotide variant Joubert syndrome 21 [RCV001889896] Chr8:67195391 [GRCh38]
Chr8:68107626 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3518G>C (p.Gly1173Ala) single nucleotide variant Joubert syndrome 21 [RCV001965287] Chr8:67195430 [GRCh38]
Chr8:68107665 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-102G>A single nucleotide variant Joubert syndrome 21 [RCV002043435] Chr8:67064447 [GRCh38]
Chr8:67976682 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2641C>G (p.His881Asp) single nucleotide variant Joubert syndrome 21 [RCV001984577] Chr8:67161913 [GRCh38]
Chr8:68074148 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.259T>A (p.Leu87Ile) single nucleotide variant Joubert syndrome 21 [RCV001999698] Chr8:67086066 [GRCh38]
Chr8:67998301 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3560G>A (p.Arg1187His) single nucleotide variant Joubert syndrome 21 [RCV001963687] Chr8:67195472 [GRCh38]
Chr8:68107707 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1691C>T (p.Pro564Leu) single nucleotide variant Joubert syndrome 21 [RCV001919040] Chr8:67118815 [GRCh38]
Chr8:68031050 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1424A>G (p.His475Arg) single nucleotide variant Joubert syndrome 21 [RCV001941189] Chr8:67116050 [GRCh38]
Chr8:68028285 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3415A>G (p.Asn1139Asp) single nucleotide variant Joubert syndrome 21 [RCV001943948] Chr8:67193548 [GRCh38]
Chr8:68105783 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2530G>A (p.Glu844Lys) single nucleotide variant Inborn genetic diseases [RCV002552824]|Joubert syndrome 21 [RCV001922038] Chr8:67159129 [GRCh38]
Chr8:68071364 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-138C>A single nucleotide variant Joubert syndrome 21 [RCV001939117] Chr8:67064411 [GRCh38]
Chr8:67976646 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2939T>G (p.Val980Gly) single nucleotide variant Joubert syndrome 21 [RCV002017620] Chr8:67172526 [GRCh38]
Chr8:68084761 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3109+4dup duplication Joubert syndrome 21 [RCV001960878] Chr8:67175438..67175439 [GRCh38]
Chr8:68087673..68087674 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3405_3406del (p.Arg1136fs) deletion Joubert syndrome 21 [RCV001992609] Chr8:67193538..67193539 [GRCh38]
Chr8:68105773..68105774 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1703C>A (p.Thr568Lys) single nucleotide variant Joubert syndrome 21 [RCV001941171] Chr8:67131956 [GRCh38]
Chr8:68044191 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2643+4T>G single nucleotide variant Joubert syndrome 21 [RCV001941418] Chr8:67161919 [GRCh38]
Chr8:68074154 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1101A>G (p.Glu367=) single nucleotide variant Joubert syndrome 21 [RCV001926115] Chr8:67111979 [GRCh38]
Chr8:68024214 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.2435G>A (p.Arg812Lys) single nucleotide variant Joubert syndrome 21 [RCV001942850] Chr8:67159034 [GRCh38]
Chr8:68071269 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1550G>A (p.Arg517Gln) single nucleotide variant Joubert syndrome 21 [RCV001960386] Chr8:67118301 [GRCh38]
Chr8:68030536 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1022+1G>T single nucleotide variant Joubert syndrome 21 [RCV002009554] Chr8:67103136 [GRCh38]
Chr8:68015371 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.188G>C (p.Arg63Thr) single nucleotide variant Joubert syndrome 21 [RCV002033282] Chr8:67076570 [GRCh38]
Chr8:67988805 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2206C>A (p.Gln736Lys) single nucleotide variant Joubert syndrome 21 [RCV001888727] Chr8:67154101 [GRCh38]
Chr8:68066336 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2162G>A (p.Arg721Gln) single nucleotide variant Joubert syndrome 21 [RCV001888291] Chr8:67154057 [GRCh38]
Chr8:68066292 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.199+13A>G single nucleotide variant Joubert syndrome 21 [RCV001943398] Chr8:67076594 [GRCh38]
Chr8:67988829 [GRCh37]
Chr8:8q13.1		 likely benign|uncertain significance
NC_000008.10:g.(?_68044166)_(68044335_?)del deletion Joubert syndrome 21 [RCV001958791] Chr8:68044166..68044335 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1194A>T (p.Lys398Asn) single nucleotide variant Inborn genetic diseases [RCV004043560]|Joubert syndrome 21 [RCV001938170] Chr8:67113811 [GRCh38]
Chr8:68026046 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.729C>G (p.Asn243Lys) single nucleotide variant Joubert syndrome 21 [RCV001888313] Chr8:67095538 [GRCh38]
Chr8:68007773 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3289G>T (p.Ala1097Ser) single nucleotide variant Joubert syndrome 21 [RCV001904931] Chr8:67190718 [GRCh38]
Chr8:68102953 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.263_267del (p.Lys88fs) deletion Joubert syndrome 21 [RCV002037925] Chr8:67086068..67086072 [GRCh38]
Chr8:67998303..67998307 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.3139G>C (p.Val1047Leu) single nucleotide variant Inborn genetic diseases [RCV005320975]|Joubert syndrome 21 [RCV001938335] Chr8:67177709 [GRCh38]
Chr8:68089944 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1313T>C (p.Val438Ala) single nucleotide variant Joubert syndrome 21 [RCV001973578] Chr8:67115939 [GRCh38]
Chr8:68028174 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2267A>G (p.Glu756Gly) single nucleotide variant Inborn genetic diseases [RCV004976088]|Joubert syndrome 21 [RCV002033716] Chr8:67158472 [GRCh38]
Chr8:68070707 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1639G>C (p.Val547Leu) single nucleotide variant Joubert syndrome 21 [RCV002035569] Chr8:67118763 [GRCh38]
Chr8:68030998 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.502A>C (p.Lys168Gln) single nucleotide variant Joubert syndrome 21 [RCV002038774] Chr8:67095311 [GRCh38]
Chr8:68007546 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1648G>A (p.Ala550Thr) single nucleotide variant Joubert syndrome 21 [RCV002030474] Chr8:67118772 [GRCh38]
Chr8:68031007 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1234C>T (p.Pro412Ser) single nucleotide variant Joubert syndrome 21 [RCV001934759] Chr8:67113851 [GRCh38]
Chr8:68026086 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2741C>T (p.Ser914Leu) single nucleotide variant Joubert syndrome 21 [RCV001903021] Chr8:67164421 [GRCh38]
Chr8:68076656 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2761C>T (p.Arg921Cys) single nucleotide variant Joubert syndrome 21 [RCV001976365] Chr8:67164441 [GRCh38]
Chr8:68076676 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-116C>T single nucleotide variant Inborn genetic diseases [RCV004045970]|Joubert syndrome 21 [RCV002013038] Chr8:67064433 [GRCh38]
Chr8:67976668 [GRCh37]
Chr8:8q13.1		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.2398C>G (p.Leu800Val) single nucleotide variant Joubert syndrome 21 [RCV002051371] Chr8:67158997 [GRCh38]
Chr8:68071232 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3163G>C (p.Asp1055His) single nucleotide variant Inborn genetic diseases [RCV002552256]|Joubert syndrome 21 [RCV001880975] Chr8:67179869 [GRCh38]
Chr8:68092104 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(?_67998222)_(67998365_?)del deletion Joubert syndrome 21 [RCV001956359] Chr8:67998222..67998365 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.88A>G (p.Met30Val) single nucleotide variant Joubert syndrome 21 [RCV001996191]|Optic atrophy [RCV004816897]|not provided [RCV003434382] Chr8:67074340 [GRCh38]
Chr8:67986575 [GRCh37]
Chr8:8q13.1		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.572G>A (p.Gly191Asp) single nucleotide variant Joubert syndrome 21 [RCV002046702] Chr8:67095381 [GRCh38]
Chr8:68007616 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.908T>C (p.Val303Ala) single nucleotide variant Joubert syndrome 21 [RCV002015581] Chr8:67095717 [GRCh38]
Chr8:68007952 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3330+1G>C single nucleotide variant Joubert syndrome 21 [RCV001995648]|not provided [RCV003235646] Chr8:67190760 [GRCh38]
Chr8:68102995 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.422A>G (p.Gln141Arg) single nucleotide variant Joubert syndrome 21 [RCV001958212] Chr8:67093580 [GRCh38]
Chr8:68005815 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.508C>G (p.Pro170Ala) single nucleotide variant Joubert syndrome 21 [RCV001899254] Chr8:67095317 [GRCh38]
Chr8:68007552 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.727A>C (p.Asn243His) single nucleotide variant Joubert syndrome 21 [RCV001877633] Chr8:67095536 [GRCh38]
Chr8:68007771 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3364C>T (p.Leu1122Phe) single nucleotide variant Joubert syndrome 21 [RCV001992618] Chr8:67193497 [GRCh38]
Chr8:68105732 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(?_68018120)_(68071392_?)dup duplication Joubert syndrome 21 [RCV002032157] Chr8:68018120..68071392 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.2864T>C (p.Met955Thr) single nucleotide variant Inborn genetic diseases [RCV004040438]|Joubert syndrome 21 [RCV001867453]|not provided [RCV004774487] Chr8:67172451 [GRCh38]
Chr8:68084686 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-140C>G single nucleotide variant Joubert syndrome 21 [RCV001879272] Chr8:67064409 [GRCh38]
Chr8:67976644 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3430C>T (p.Arg1144Ter) single nucleotide variant Joubert syndrome 21 [RCV001952197] Chr8:67193563 [GRCh38]
Chr8:68105798 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(?_68024187)_(68107828_?)dup duplication Joubert syndrome 21 [RCV001992944] Chr8:68024187..68107828 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2732T>A (p.Met911Lys) single nucleotide variant Joubert syndrome 21 [RCV001935924] Chr8:67164412 [GRCh38]
Chr8:68076647 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1342C>T (p.Pro448Ser) single nucleotide variant Joubert syndrome 21 [RCV001973237] Chr8:67115968 [GRCh38]
Chr8:68028203 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.896G>A (p.Arg299Lys) single nucleotide variant Joubert syndrome 21 [RCV001867663] Chr8:67095705 [GRCh38]
Chr8:68007940 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3368_3371del (p.Leu1122_Ser1123insTer) microsatellite Joubert syndrome 21 [RCV001950917] Chr8:67193496..67193499 [GRCh38]
Chr8:68105731..68105734 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3298C>T (p.Arg1100Cys) single nucleotide variant Inborn genetic diseases [RCV003164011]|Joubert syndrome 21 [RCV002029990] Chr8:67190727 [GRCh38]
Chr8:68102962 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3619C>T (p.Gln1207Ter) single nucleotide variant Joubert syndrome 21 [RCV001866536] Chr8:67195531 [GRCh38]
Chr8:68107766 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-96C>G single nucleotide variant Joubert syndrome 21 [RCV001881239] Chr8:67064453 [GRCh38]
Chr8:67976688 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3487G>A (p.Val1163Ile) single nucleotide variant Joubert syndrome 21 [RCV001934311] Chr8:67195399 [GRCh38]
Chr8:68107634 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-142C>A single nucleotide variant Joubert syndrome 21 [RCV001977088] Chr8:67064407 [GRCh38]
Chr8:67976642 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1984A>G (p.Asn662Asp) single nucleotide variant Inborn genetic diseases [RCV005320899]|Joubert syndrome 21 [RCV001866612] Chr8:67149791 [GRCh38]
Chr8:68062026 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3428T>C (p.Met1143Thr) single nucleotide variant Joubert syndrome 21 [RCV001995913] Chr8:67193561 [GRCh38]
Chr8:68105796 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2557_2559del (p.Pro853del) deletion Joubert syndrome 21 [RCV002027675] Chr8:67161827..67161829 [GRCh38]
Chr8:68074062..68074064 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3340C>T (p.Arg1114Cys) single nucleotide variant Joubert syndrome 21 [RCV001931913] Chr8:67193473 [GRCh38]
Chr8:68105708 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.187A>G (p.Arg63Gly) single nucleotide variant Joubert syndrome 21 [RCV002030127] Chr8:67076569 [GRCh38]
Chr8:67988804 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2391+3A>T single nucleotide variant Joubert syndrome 21 [RCV001919839] Chr8:67158599 [GRCh38]
Chr8:68070834 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1827+3A>G single nucleotide variant Joubert syndrome 21 [RCV002027787] Chr8:67132083 [GRCh38]
Chr8:68044318 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2968G>A (p.Asp990Asn) single nucleotide variant Joubert syndrome 21 [RCV001974850] Chr8:67172555 [GRCh38]
Chr8:68084790 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1591A>G (p.Asn531Asp) single nucleotide variant Joubert syndrome 21 [RCV001972261] Chr8:67118342 [GRCh38]
Chr8:68030577 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2986G>A (p.Asp996Asn) single nucleotide variant Joubert syndrome 21 [RCV001897346] Chr8:67175313 [GRCh38]
Chr8:68087548 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-68G>A single nucleotide variant Joubert syndrome 21 [RCV001973629] Chr8:67064481 [GRCh38]
Chr8:67976716 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1432C>A (p.Pro478Thr) single nucleotide variant Joubert syndrome 21 [RCV001957411] Chr8:67116058 [GRCh38]
Chr8:68028293 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3124A>G (p.Ile1042Val) single nucleotide variant Joubert syndrome 21 [RCV001933369]|not provided [RCV003317548] Chr8:67177694 [GRCh38]
Chr8:68089929 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.659T>C (p.Leu220Pro) single nucleotide variant Joubert syndrome 21 [RCV001934711] Chr8:67095468 [GRCh38]
Chr8:68007703 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1100A>G (p.Glu367Gly) single nucleotide variant Joubert syndrome 21 [RCV001921107] Chr8:67111978 [GRCh38]
Chr8:68024213 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-146T>A single nucleotide variant Joubert syndrome 21 [RCV001974968] Chr8:67064403 [GRCh38]
Chr8:67976638 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1972A>G (p.Ile658Val) single nucleotide variant Joubert syndrome 21 [RCV001897711] Chr8:67137600 [GRCh38]
Chr8:68049835 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.72A>C (p.Glu24Asp) single nucleotide variant Joubert syndrome 21 [RCV001867109] Chr8:67074324 [GRCh38]
Chr8:67986559 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3382T>C (p.Ser1128Pro) single nucleotide variant Joubert syndrome 21 [RCV001900341] Chr8:67193515 [GRCh38]
Chr8:68105750 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.244C>T (p.Arg82Trp) single nucleotide variant Joubert syndrome 21 [RCV001925583] Chr8:67086051 [GRCh38]
Chr8:67998286 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2194C>T (p.Leu732Phe) single nucleotide variant Joubert syndrome 21 [RCV001979447] Chr8:67154089 [GRCh38]
Chr8:68066324 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2285_2286del (p.Leu762fs) deletion Joubert syndrome 21 [RCV001994713] Chr8:67158490..67158491 [GRCh38]
Chr8:68070725..68070726 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1873G>A (p.Glu625Lys) single nucleotide variant Joubert syndrome 21 [RCV001904625] Chr8:67137501 [GRCh38]
Chr8:68049736 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.303+5T>C single nucleotide variant Joubert syndrome 21 [RCV001878980] Chr8:67086115 [GRCh38]
Chr8:67998350 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1606A>C (p.Ser536Arg) single nucleotide variant Joubert syndrome 21 [RCV002020073] Chr8:67118357 [GRCh38]
Chr8:68030592 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1472C>A (p.Ala491Asp) single nucleotide variant Joubert syndrome 21 [RCV001898146] Chr8:67116098 [GRCh38]
Chr8:68028333 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2276G>A (p.Arg759Gln) single nucleotide variant Joubert syndrome 21 [RCV001957817] Chr8:67158481 [GRCh38]
Chr8:68070716 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1400C>A (p.Ser467Tyr) single nucleotide variant Joubert syndrome 21 [RCV002010729] Chr8:67116026 [GRCh38]
Chr8:68028261 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.767C>G (p.Pro256Arg) single nucleotide variant Joubert syndrome 21 [RCV001954736] Chr8:67095576 [GRCh38]
Chr8:68007811 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1399T>C (p.Ser467Pro) single nucleotide variant Joubert syndrome 21 [RCV002049787] Chr8:67116025 [GRCh38]
Chr8:68028260 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2829-3T>C single nucleotide variant Joubert syndrome 21 [RCV001905960] Chr8:67172413 [GRCh38]
Chr8:68084648 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-66G>A single nucleotide variant Joubert syndrome 21 [RCV001866504] Chr8:67064483 [GRCh38]
Chr8:67976718 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2776C>T (p.Arg926Cys) single nucleotide variant Joubert syndrome 21 [RCV002032106] Chr8:67164456 [GRCh38]
Chr8:68076691 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1708G>A (p.Gly570Arg) single nucleotide variant Joubert syndrome 21 [RCV001995081]|Retinal dystrophy [RCV004816853] Chr8:67131961 [GRCh38]
Chr8:68044196 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2099A>G (p.Asn700Ser) single nucleotide variant Joubert syndrome 21 [RCV002028823] Chr8:67149906 [GRCh38]
Chr8:68062141 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3259G>A (p.Val1087Ile) single nucleotide variant Joubert syndrome 21 [RCV002046060] Chr8:67190688 [GRCh38]
Chr8:68102923 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2967A>G (p.Arg989=) single nucleotide variant Joubert syndrome 21 [RCV001866705] Chr8:67172554 [GRCh38]
Chr8:68084789 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2777G>A (p.Arg926His) single nucleotide variant Joubert syndrome 21 [RCV001972116] Chr8:67164457 [GRCh38]
Chr8:68076692 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2240A>T (p.Gln747Leu) single nucleotide variant Joubert syndrome 21 [RCV001958176] Chr8:67154135 [GRCh38]
Chr8:68066370 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3328A>T (p.Ile1110Phe) single nucleotide variant Joubert syndrome 21 [RCV001991847] Chr8:67190757 [GRCh38]
Chr8:68102992 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2888C>T (p.Pro963Leu) single nucleotide variant Joubert syndrome 21 [RCV002019742] Chr8:67172475 [GRCh38]
Chr8:68084710 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2162G>T (p.Arg721Leu) single nucleotide variant Joubert syndrome 21 [RCV001979242] Chr8:67154057 [GRCh38]
Chr8:68066292 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2141C>T (p.Thr714Ile) single nucleotide variant Joubert syndrome 21 [RCV001906157] Chr8:67154036 [GRCh38]
Chr8:68066271 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2633C>T (p.Ser878Phe) single nucleotide variant Joubert syndrome 21 [RCV001902603] Chr8:67161905 [GRCh38]
Chr8:68074140 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.554C>G (p.Ser185Cys) single nucleotide variant Joubert syndrome 21 [RCV001926170] Chr8:67095363 [GRCh38]
Chr8:68007598 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.-104A>T single nucleotide variant Joubert syndrome 21 [RCV002033982] Chr8:67064445 [GRCh38]
Chr8:67976680 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1661G>A (p.Ser554Asn) single nucleotide variant Joubert syndrome 21 [RCV001919226] Chr8:67118785 [GRCh38]
Chr8:68031020 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1616A>G (p.Tyr539Cys) single nucleotide variant Joubert syndrome 21 [RCV001898859] Chr8:67118367 [GRCh38]
Chr8:68030602 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.275G>C (p.Arg92Pro) single nucleotide variant Joubert syndrome 21 [RCV001939088] Chr8:67086082 [GRCh38]
Chr8:67998317 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1643A>G (p.Gln548Arg) single nucleotide variant Joubert syndrome 21 [RCV001997214] Chr8:67118767 [GRCh38]
Chr8:68031002 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1198T>G (p.Leu400Val) single nucleotide variant Joubert syndrome 21 [RCV001997653] Chr8:67113815 [GRCh38]
Chr8:68026050 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1497-2A>C single nucleotide variant Joubert syndrome 21 [RCV001998063] Chr8:67118246 [GRCh38]
Chr8:68030481 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.1832G>A (p.Arg611Gln) single nucleotide variant Joubert syndrome 21 [RCV002018313] Chr8:67137460 [GRCh38]
Chr8:68049695 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1897G>C (p.Ala633Pro) single nucleotide variant Joubert syndrome 21 [RCV001925000] Chr8:67137525 [GRCh38]
Chr8:68049760 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3455A>G (p.Lys1152Arg) single nucleotide variant Joubert syndrome 21 [RCV001960761] Chr8:67193588 [GRCh38]
Chr8:68105823 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1728T>G (p.Ile576Met) single nucleotide variant Joubert syndrome 21 [RCV001904930] Chr8:67131981 [GRCh38]
Chr8:68044216 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.731T>G (p.Leu244Arg) single nucleotide variant Joubert syndrome 21 [RCV001906175] Chr8:67095540 [GRCh38]
Chr8:68007775 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2887C>G (p.Pro963Ala) single nucleotide variant Joubert syndrome 21 [RCV001998367] Chr8:67172474 [GRCh38]
Chr8:68084709 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2710+6G>A single nucleotide variant CSPP1-related disorder [RCV003913444]|Joubert syndrome 21 [RCV001925833] Chr8:67163804 [GRCh38]
Chr8:68076039 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.1843G>C (p.Glu615Gln) single nucleotide variant Joubert syndrome 21 [RCV001899808] Chr8:67137471 [GRCh38]
Chr8:68049706 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-108C>T single nucleotide variant Joubert syndrome 21 [RCV001934079] Chr8:67064441 [GRCh38]
Chr8:67976676 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2686A>G (p.Arg896Gly) single nucleotide variant Joubert syndrome 21 [RCV001937259] Chr8:67163774 [GRCh38]
Chr8:68076009 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.923G>A (p.Arg308Lys) single nucleotide variant Joubert syndrome 21 [RCV001935128] Chr8:67095732 [GRCh38]
Chr8:68007967 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.419_422del (p.Asn140fs) deletion Joubert syndrome 21 [RCV001994801] Chr8:67093575..67093578 [GRCh38]
Chr8:68005810..68005813 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.2644-14T>G single nucleotide variant Joubert syndrome 21 [RCV001996062] Chr8:67163718 [GRCh38]
Chr8:68075953 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.253C>T (p.His85Tyr) single nucleotide variant Joubert syndrome 21 [RCV001877496] Chr8:67086060 [GRCh38]
Chr8:67998295 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2168A>G (p.Asn723Ser) single nucleotide variant Joubert syndrome 21 [RCV001977706] Chr8:67154063 [GRCh38]
Chr8:68066298 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.881G>C (p.Ser294Thr) single nucleotide variant Joubert syndrome 21 [RCV001952404] Chr8:67095690 [GRCh38]
Chr8:68007925 [GRCh37]
Chr8:8q13.1		 uncertain significance
NC_000008.10:g.(?_68024187)_(68044335_?)dup duplication Joubert syndrome 21 [RCV002032167] Chr8:68024187..68044335 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.1861C>T (p.Arg621Cys) single nucleotide variant Joubert syndrome 21 [RCV001866465] Chr8:67137489 [GRCh38]
Chr8:68049724 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2036C>G (p.Thr679Arg) single nucleotide variant Joubert syndrome 21 [RCV002015504] Chr8:67149843 [GRCh38]
Chr8:68062078 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.929A>G (p.His310Arg) single nucleotide variant Inborn genetic diseases [RCV003289150]|Joubert syndrome 21 [RCV001878733] Chr8:67103042 [GRCh38]
Chr8:68015277 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.46T>G (p.Leu16Val) single nucleotide variant Inborn genetic diseases [RCV005320984]|Joubert syndrome 21 [RCV001957097] Chr8:67074298 [GRCh38]
Chr8:67986533 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2658C>G (p.Ser886=) single nucleotide variant Joubert syndrome 21 [RCV002085211] Chr8:67163746 [GRCh38]
Chr8:68075981 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.876T>C (p.Tyr292=) single nucleotide variant Joubert syndrome 21 [RCV002165100] Chr8:67095685 [GRCh38]
Chr8:68007920 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2392-17_2392-12del deletion Joubert syndrome 21 [RCV002186598] Chr8:67158971..67158976 [GRCh38]
Chr8:68071206..68071211 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1618+20A>C single nucleotide variant Joubert syndrome 21 [RCV002125775] Chr8:67118389 [GRCh38]
Chr8:68030624 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2322A>G (p.Ala774=) single nucleotide variant Joubert syndrome 21 [RCV002208083] Chr8:67158527 [GRCh38]
Chr8:68070762 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1065C>T (p.Thr355=) single nucleotide variant Joubert syndrome 21 [RCV002168631] Chr8:67105947 [GRCh38]
Chr8:68018182 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1618+12A>G single nucleotide variant Joubert syndrome 21 [RCV002169848] Chr8:67118381 [GRCh38]
Chr8:68030616 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1123A>C (p.Arg375=) single nucleotide variant Joubert syndrome 21 [RCV002071381] Chr8:67112001 [GRCh38]
Chr8:68024236 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1697+19G>T single nucleotide variant Joubert syndrome 21 [RCV002126498] Chr8:67118840 [GRCh38]
Chr8:68031075 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-10-4A>T single nucleotide variant Joubert syndrome 21 [RCV002088879] Chr8:67074239 [GRCh38]
Chr8:67986474 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.-106C>T single nucleotide variant Joubert syndrome 21 [RCV002092288] Chr8:67064443 [GRCh38]
Chr8:67976678 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.3221-14C>T single nucleotide variant Joubert syndrome 21 [RCV002088813] Chr8:67190636 [GRCh38]
Chr8:68102871 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-103C>T single nucleotide variant Joubert syndrome 21 [RCV002147344] Chr8:67064446 [GRCh38]
Chr8:67976681 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.3157-16A>G single nucleotide variant Joubert syndrome 21 [RCV002168654] Chr8:67179847 [GRCh38]
Chr8:68092082 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3330+11G>A single nucleotide variant Joubert syndrome 21 [RCV002191271] Chr8:67190770 [GRCh38]
Chr8:68103005 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2242-18_2242-15del deletion Joubert syndrome 21 [RCV002190976] Chr8:67158426..67158429 [GRCh38]
Chr8:68070661..68070664 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2128+25_2128+36del deletion Joubert syndrome 21 [RCV002109001] Chr8:67149948..67149959 [GRCh38]
Chr8:68062183..68062194 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2128+23_2128+36del deletion Joubert syndrome 21 [RCV002107948] Chr8:67149948..67149961 [GRCh38]
Chr8:68062183..68062196 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2829-4A>G single nucleotide variant Joubert syndrome 21 [RCV002205202] Chr8:67172412 [GRCh38]
Chr8:68084647 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2828+16C>A single nucleotide variant Joubert syndrome 21 [RCV002147212] Chr8:67164524 [GRCh38]
Chr8:68076759 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2828+20T>A single nucleotide variant Joubert syndrome 21 [RCV002188769] Chr8:67164528 [GRCh38]
Chr8:68076763 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.844G>A (p.Val282Ile) single nucleotide variant not provided [RCV002224596] Chr8:67095653 [GRCh38]
Chr8:68007888 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1618+16G>A single nucleotide variant Joubert syndrome 21 [RCV002127632] Chr8:67118385 [GRCh38]
Chr8:68030620 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3645T>G (p.Thr1215=) single nucleotide variant Joubert syndrome 21 [RCV002107855] Chr8:67195557 [GRCh38]
Chr8:68107792 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2128+16T>G single nucleotide variant Joubert syndrome 21 [RCV002107130] Chr8:67149951 [GRCh38]
Chr8:68062186 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3576A>G (p.Glu1192=) single nucleotide variant Joubert syndrome 21 [RCV002117199] Chr8:67195488 [GRCh38]
Chr8:68107723 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.789T>C (p.Phe263=) single nucleotide variant Joubert syndrome 21 [RCV002093301] Chr8:67095598 [GRCh38]
Chr8:68007833 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2436A>G (p.Arg812=) single nucleotide variant Joubert syndrome 21 [RCV002109191] Chr8:67159035 [GRCh38]
Chr8:68071270 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.200-15T>C single nucleotide variant Joubert syndrome 21 [RCV002117126] Chr8:67085992 [GRCh38]
Chr8:67998227 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.3330+18C>A single nucleotide variant Joubert syndrome 21 [RCV002095290] Chr8:67190777 [GRCh38]
Chr8:68103012 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2128+10C>A single nucleotide variant Joubert syndrome 21 [RCV002174991] Chr8:67149945 [GRCh38]
Chr8:68062180 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2392-12T>G single nucleotide variant Joubert syndrome 21 [RCV002089715] Chr8:67158979 [GRCh38]
Chr8:68071214 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3288T>C (p.Ser1096=) single nucleotide variant Joubert syndrome 21 [RCV002211830] Chr8:67190717 [GRCh38]
Chr8:68102952 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3157-7C>T single nucleotide variant Joubert syndrome 21 [RCV002149871] Chr8:67179856 [GRCh38]
Chr8:68092091 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3588T>C (p.Arg1196=) single nucleotide variant Joubert syndrome 21 [RCV002079302] Chr8:67195500 [GRCh38]
Chr8:68107735 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1288-12dup duplication Joubert syndrome 21 [RCV002173453] Chr8:67115894..67115895 [GRCh38]
Chr8:68028129..68028130 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.2346G>A (p.Gln782=) single nucleotide variant Joubert syndrome 21 [RCV002151719] Chr8:67158551 [GRCh38]
Chr8:68070786 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3110-7A>G single nucleotide variant Joubert syndrome 21 [RCV002174058] Chr8:67177673 [GRCh38]
Chr8:68089908 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.484-4A>G single nucleotide variant Joubert syndrome 21 [RCV002113993]|Retinal dystrophy [RCV004816965] Chr8:67095289 [GRCh38]
Chr8:68007524 [GRCh37]
Chr8:8q13.1		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.1245+14del deletion Joubert syndrome 21 [RCV002094746] Chr8:67113875 [GRCh38]
Chr8:68026110 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1959A>G (p.Ala653=) single nucleotide variant Joubert syndrome 21 [RCV002135070] Chr8:67137587 [GRCh38]
Chr8:68049822 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1782T>C (p.Pro594=) single nucleotide variant Joubert syndrome 21 [RCV002115078] Chr8:67132035 [GRCh38]
Chr8:68044270 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-91G>A single nucleotide variant Joubert syndrome 21 [RCV002147345] Chr8:67064458 [GRCh38]
Chr8:67976693 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.66G>A (p.Glu22=) single nucleotide variant Joubert syndrome 21 [RCV002094704] Chr8:67074318 [GRCh38]
Chr8:67986553 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.33G>A (p.Glu11=) single nucleotide variant Joubert syndrome 21 [RCV002193221] Chr8:67074285 [GRCh38]
Chr8:67986520 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2241+20_2241+25del deletion Joubert syndrome 21 [RCV002174512] Chr8:67154153..67154158 [GRCh38]
Chr8:68066388..68066393 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.867G>A (p.Arg289=) single nucleotide variant Joubert syndrome 21 [RCV002075741] Chr8:67095676 [GRCh38]
Chr8:68007911 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1698-15G>A single nucleotide variant Joubert syndrome 21 [RCV002103763] Chr8:67131936 [GRCh38]
Chr8:68044171 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3228C>T (p.Tyr1076=) single nucleotide variant Joubert syndrome 21 [RCV002220171] Chr8:67190657 [GRCh38]
Chr8:68102892 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2343G>A (p.Gln781=) single nucleotide variant Joubert syndrome 21 [RCV002102128] Chr8:67158548 [GRCh38]
Chr8:68070783 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.303+7A>G single nucleotide variant Joubert syndrome 21 [RCV002158344] Chr8:67086117 [GRCh38]
Chr8:67998352 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2133T>C (p.His711=) single nucleotide variant Joubert syndrome 21 [RCV002098526] Chr8:67154028 [GRCh38]
Chr8:68066263 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1245+22_1245+36del deletion Joubert syndrome 21 [RCV002158782] Chr8:67113878..67113892 [GRCh38]
Chr8:68026113..68026127 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2711-15A>G single nucleotide variant Joubert syndrome 21 [RCV002178328] Chr8:67164376 [GRCh38]
Chr8:68076611 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3435A>G (p.Arg1145=) single nucleotide variant Joubert syndrome 21 [RCV002176554] Chr8:67193568 [GRCh38]
Chr8:68105803 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2392-14T>C single nucleotide variant Joubert syndrome 21 [RCV002159057] Chr8:67158977 [GRCh38]
Chr8:68071212 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1320A>G (p.Pro440=) single nucleotide variant Joubert syndrome 21 [RCV002144289] Chr8:67115946 [GRCh38]
Chr8:68028181 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2754A>G (p.Lys918=) single nucleotide variant Joubert syndrome 21 [RCV002099541] Chr8:67164434 [GRCh38]
Chr8:68076669 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1245+15dup duplication Joubert syndrome 21 [RCV002216443] Chr8:67113876..67113877 [GRCh38]
Chr8:68026111..68026112 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1776G>A (p.Pro592=) single nucleotide variant Joubert syndrome 21 [RCV002216463]|not provided [RCV003458122] Chr8:67132029 [GRCh38]
Chr8:68044264 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2481T>C (p.Tyr827=) single nucleotide variant Joubert syndrome 21 [RCV002097984] Chr8:67159080 [GRCh38]
Chr8:68071315 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1524A>G (p.Leu508=) single nucleotide variant Joubert syndrome 21 [RCV002119573] Chr8:67118275 [GRCh38]
Chr8:68030510 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2862T>C (p.Asp954=) single nucleotide variant Joubert syndrome 21 [RCV002182864] Chr8:67172449 [GRCh38]
Chr8:68084684 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2644-12A>G single nucleotide variant Joubert syndrome 21 [RCV002081575] Chr8:67163720 [GRCh38]
Chr8:68075955 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.200-13_200-11del microsatellite Joubert syndrome 21 [RCV002216880] Chr8:67085991..67085993 [GRCh38]
Chr8:67998226..67998228 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2685C>G (p.Ala895=) single nucleotide variant Joubert syndrome 21 [RCV002216949] Chr8:67163773 [GRCh38]
Chr8:68076008 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3672A>C (p.Ala1224=) single nucleotide variant Joubert syndrome 21 [RCV002100278] Chr8:67195584 [GRCh38]
Chr8:68107819 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2763T>C (p.Arg921=) single nucleotide variant Joubert syndrome 21 [RCV002118294] Chr8:67164443 [GRCh38]
Chr8:68076678 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1188-16del deletion Joubert syndrome 21 [RCV002198645] Chr8:67113789 [GRCh38]
Chr8:68026024 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1806C>T (p.Tyr602=) single nucleotide variant Joubert syndrome 21 [RCV002198741] Chr8:67132059 [GRCh38]
Chr8:68044294 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2128+7_2128+25del deletion Joubert syndrome 21 [RCV002162550] Chr8:67149937..67149955 [GRCh38]
Chr8:68062172..68062190 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1683A>G (p.Leu561=) single nucleotide variant Joubert syndrome 21 [RCV002082573] Chr8:67118807 [GRCh38]
Chr8:68031042 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2128+17T>G single nucleotide variant Joubert syndrome 21 [RCV002144154] Chr8:67149952 [GRCh38]
Chr8:68062187 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.923+25_923+29del microsatellite Joubert syndrome 21 [RCV002199606] Chr8:67095749..67095753 [GRCh38]
Chr8:68007984..68007988 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1094-11C>T single nucleotide variant Joubert syndrome 21 [RCV002142603] Chr8:67111961 [GRCh38]
Chr8:68024196 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1093+17del deletion Joubert syndrome 21 [RCV002180831] Chr8:67105991 [GRCh38]
Chr8:68018226 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2538+10A>G single nucleotide variant Joubert syndrome 21 [RCV002136115] Chr8:67159147 [GRCh38]
Chr8:68071382 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1827+10C>A single nucleotide variant Joubert syndrome 21 [RCV002200503] Chr8:67132090 [GRCh38]
Chr8:68044325 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1619-8T>C single nucleotide variant Joubert syndrome 21 [RCV002176480] Chr8:67118735 [GRCh38]
Chr8:68030970 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2538+11G>A single nucleotide variant Joubert syndrome 21 [RCV002180652] Chr8:67159148 [GRCh38]
Chr8:68071383 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-45_-42del deletion Joubert syndrome 21 [RCV002137228] Chr8:67064502..67064505 [GRCh38]
Chr8:67976737..67976740 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.-94A>G single nucleotide variant Joubert syndrome 21 [RCV002100030] Chr8:67064455 [GRCh38]
Chr8:67976690 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.126A>G (p.Glu42=) single nucleotide variant Joubert syndrome 21 [RCV002157858] Chr8:67076508 [GRCh38]
Chr8:67988743 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.3109+20G>A single nucleotide variant Joubert syndrome 21 [RCV002179625] Chr8:67175456 [GRCh38]
Chr8:68087691 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3528A>C (p.Gly1176=) single nucleotide variant Joubert syndrome 21 [RCV002098901] Chr8:67195440 [GRCh38]
Chr8:68107675 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3015A>C (p.Pro1005=) single nucleotide variant Joubert syndrome 21 [RCV002180004] Chr8:67175342 [GRCh38]
Chr8:68087577 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.738T>C (p.His246=) single nucleotide variant Joubert syndrome 21 [RCV002155260] Chr8:67095547 [GRCh38]
Chr8:68007782 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.3157-19del deletion Joubert syndrome 21 [RCV002159185] Chr8:67179843 [GRCh38]
Chr8:68092078 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1599C>T (p.Phe533=) single nucleotide variant Joubert syndrome 21 [RCV003110465] Chr8:67118350 [GRCh38]
Chr8:68030585 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1958C>T (p.Ala653Val) single nucleotide variant Inborn genetic diseases [RCV004614399]|Joubert syndrome 21 [RCV003111842] Chr8:67137586 [GRCh38]
Chr8:68049821 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3331-8A>G single nucleotide variant Joubert syndrome 21 [RCV003111967] Chr8:67193456 [GRCh38]
Chr8:68105691 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2643+4T>C single nucleotide variant Joubert syndrome 21 [RCV003114915] Chr8:67161919 [GRCh38]
Chr8:68074154 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1857_1860del (p.Lys619fs) microsatellite Joubert syndrome 21 [RCV003116256] Chr8:67137480..67137483 [GRCh38]
Chr8:68049715..68049718 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.100-11G>A single nucleotide variant Joubert syndrome 21 [RCV003121612] Chr8:67076471 [GRCh38]
Chr8:67988706 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.-54_-51del deletion Joubert syndrome 21 [RCV003121693] Chr8:67064494..67064497 [GRCh38]
Chr8:67976729..67976732 [GRCh37]
Chr8:8q13.1		 likely pathogenic
NC_000008.10:g.(?_67976634)_(68658364_?)del deletion Joubert syndrome 21 [RCV003122721] Chr8:67976634..68658364 [GRCh37]
Chr8:8q13.1-13.2		 pathogenic
NC_000008.10:g.(?_68070662)_(68071392_?)del deletion Joubert syndrome 21 [RCV003122722] Chr8:68070662..68071392 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(?_68015252)_(68015390_?)dup duplication Joubert syndrome 21 [RCV003122723] Chr8:68015252..68015390 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(?_67976634)_(68071392_?)dup duplication Joubert syndrome 21 [RCV003122724] Chr8:67976634..68071392 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3461T>C (p.Ile1154Thr) single nucleotide variant Inborn genetic diseases [RCV003290761] Chr8:67193594 [GRCh38]
Chr8:68105829 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1746A>G (p.Ile582Met) single nucleotide variant not provided [RCV003156605] Chr8:67131999 [GRCh38]
Chr8:68044234 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3424C>T (p.Arg1142Ter) single nucleotide variant Joubert syndrome 21 [RCV003095870]|not provided [RCV002260866] Chr8:67193557 [GRCh38]
Chr8:68105792 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3470-2A>G single nucleotide variant not provided [RCV002261479] Chr8:67195380 [GRCh38]
Chr8:68107615 [GRCh37]
Chr8:8q13.2		 not provided
NM_001382391.1(CSPP1):c.1698-2A>G single nucleotide variant not provided [RCV002274853] Chr8:67131949 [GRCh38]
Chr8:68044184 [GRCh37]
Chr8:8q13.2		 not provided
NM_001382391.1(CSPP1):c.3140T>C (p.Val1047Ala) single nucleotide variant not provided [RCV002292038] Chr8:67177710 [GRCh38]
Chr8:68089945 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3437T>C (p.Leu1146Pro) single nucleotide variant Joubert syndrome 21 [RCV002296998] Chr8:67193570 [GRCh38]
Chr8:68105805 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1576T>A (p.Phe526Ile) single nucleotide variant Joubert syndrome 21 [RCV003095997]|not provided [RCV002265463] Chr8:67118327 [GRCh38]
Chr8:68030562 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2876G>A (p.Arg959Gln) single nucleotide variant not provided [RCV002469549] Chr8:67172463 [GRCh38]
Chr8:68084698 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1187+1G>A single nucleotide variant Joubert syndrome 21 [RCV002283870] Chr8:67112066 [GRCh38]
Chr8:68024301 [GRCh37]
Chr8:8q13.2		 pathogenic|likely pathogenic
NM_001382391.1(CSPP1):c.2723A>G (p.Asn908Ser) single nucleotide variant Joubert syndrome 21 [RCV002303450] Chr8:67164403 [GRCh38]
Chr8:68076638 [GRCh37]
Chr8:8q13.2		 uncertain significance
GRCh37/hg19 8q13.1-13.2(chr8:67642641-68406704)x1 copy number loss not provided [RCV002473707] Chr8:67642641..68406704 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2810A>G (p.Asp937Gly) single nucleotide variant Joubert syndrome 21 [RCV002296311] Chr8:67164490 [GRCh38]
Chr8:68076725 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1066T>C (p.Cys356Arg) single nucleotide variant Joubert syndrome 21 [RCV002298243] Chr8:67105948 [GRCh38]
Chr8:68018183 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1298T>G (p.Leu433Arg) single nucleotide variant Joubert syndrome 21 [RCV002300128] Chr8:67115924 [GRCh38]
Chr8:68028159 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.251A>C (p.Lys84Thr) single nucleotide variant Inborn genetic diseases [RCV003269162]|Joubert syndrome 21 [RCV002296697] Chr8:67086058 [GRCh38]
Chr8:67998293 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3399T>A (p.Asp1133Glu) single nucleotide variant Joubert syndrome 21 [RCV003011830] Chr8:67193532 [GRCh38]
Chr8:68105767 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1504C>T (p.Pro502Ser) single nucleotide variant Joubert syndrome 21 [RCV003012295] Chr8:67118255 [GRCh38]
Chr8:68030490 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.475A>G (p.Ser159Gly) single nucleotide variant Joubert syndrome 21 [RCV002615195] Chr8:67093633 [GRCh38]
Chr8:68005868 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1497-6A>G single nucleotide variant Joubert syndrome 21 [RCV002995171] Chr8:67118242 [GRCh38]
Chr8:68030477 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3170C>A (p.Thr1057Asn) single nucleotide variant Joubert syndrome 21 [RCV002904141] Chr8:67179876 [GRCh38]
Chr8:68092111 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-56del deletion Joubert syndrome 21 [RCV002726416] Chr8:67064490 [GRCh38]
Chr8:67976725 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.2411A>C (p.Glu804Ala) single nucleotide variant Joubert syndrome 21 [RCV002839244] Chr8:67159010 [GRCh38]
Chr8:68071245 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-150A>T single nucleotide variant Joubert syndrome 21 [RCV002994356] Chr8:67064399 [GRCh38]
Chr8:67976634 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2589A>G (p.Ala863=) single nucleotide variant Joubert syndrome 21 [RCV002751044] Chr8:67161861 [GRCh38]
Chr8:68074096 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.635T>G (p.Leu212Arg) single nucleotide variant Joubert syndrome 21 [RCV002681958] Chr8:67095444 [GRCh38]
Chr8:68007679 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2824A>G (p.Ile942Val) single nucleotide variant Inborn genetic diseases [RCV005323369]|Joubert syndrome 21 [RCV002616614] Chr8:67164504 [GRCh38]
Chr8:68076739 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1828-11A>G single nucleotide variant Joubert syndrome 21 [RCV003012147] Chr8:67137445 [GRCh38]
Chr8:68049680 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.719G>A (p.Gly240Asp) single nucleotide variant Joubert syndrome 21 [RCV002991709] Chr8:67095528 [GRCh38]
Chr8:68007763 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.966_967delinsAA (p.His322_Asp323delinsGlnAsn) indel Joubert syndrome 21 [RCV002908103] Chr8:67103079..67103080 [GRCh38]
Chr8:68015314..68015315 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-149T>G single nucleotide variant Joubert syndrome 21 [RCV003012313] Chr8:67064400 [GRCh38]
Chr8:67976635 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1618+15G>T single nucleotide variant Joubert syndrome 21 [RCV003077024] Chr8:67118384 [GRCh38]
Chr8:68030619 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2674C>T (p.Pro892Ser) single nucleotide variant Inborn genetic diseases [RCV002752371] Chr8:67163762 [GRCh38]
Chr8:68075997 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-147C>G single nucleotide variant Joubert syndrome 21 [RCV002947362] Chr8:67064402 [GRCh38]
Chr8:67976637 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1288-11_1288-8del deletion Joubert syndrome 21 [RCV002756548] Chr8:67115900..67115903 [GRCh38]
Chr8:68028135..68028138 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3563C>T (p.Pro1188Leu) single nucleotide variant Joubert syndrome 21 [RCV003075442] Chr8:67195475 [GRCh38]
Chr8:68107710 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-36C>T single nucleotide variant Joubert syndrome 21 [RCV002996517] Chr8:67064513 [GRCh38]
Chr8:67976748 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2631T>C (p.Arg877=) single nucleotide variant Joubert syndrome 21 [RCV002816124] Chr8:67161903 [GRCh38]
Chr8:68074138 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2241+15G>A single nucleotide variant Joubert syndrome 21 [RCV003076451] Chr8:67154151 [GRCh38]
Chr8:68066386 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2538+13C>A single nucleotide variant Joubert syndrome 21 [RCV002991869] Chr8:67159150 [GRCh38]
Chr8:68071385 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1497-8T>C single nucleotide variant Joubert syndrome 21 [RCV002995498] Chr8:67118240 [GRCh38]
Chr8:68030475 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1867G>A (p.Glu623Lys) single nucleotide variant Joubert syndrome 21 [RCV002816056] Chr8:67137495 [GRCh38]
Chr8:68049730 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1188-2A>G single nucleotide variant Joubert syndrome 21 [RCV002880859] Chr8:67113803 [GRCh38]
Chr8:68026038 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.1745T>C (p.Ile582Thr) single nucleotide variant Inborn genetic diseases [RCV002906162] Chr8:67131998 [GRCh38]
Chr8:68044233 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3400G>A (p.Glu1134Lys) single nucleotide variant Joubert syndrome 21 [RCV002775177] Chr8:67193533 [GRCh38]
Chr8:68105768 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-68G>C single nucleotide variant Joubert syndrome 21 [RCV002685908] Chr8:67064481 [GRCh38]
Chr8:67976716 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2529A>G (p.Glu843=) single nucleotide variant Joubert syndrome 21 [RCV002996282] Chr8:67159128 [GRCh38]
Chr8:68071363 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3598G>A (p.Glu1200Lys) single nucleotide variant Joubert syndrome 21 [RCV002996936] Chr8:67195510 [GRCh38]
Chr8:68107745 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1188-5T>A single nucleotide variant Joubert syndrome 21 [RCV003014258] Chr8:67113800 [GRCh38]
Chr8:68026035 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3438G>C (p.Leu1146=) single nucleotide variant Joubert syndrome 21 [RCV003033388] Chr8:67193571 [GRCh38]
Chr8:68105806 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1828-1G>C single nucleotide variant Joubert syndrome 21 [RCV002996306] Chr8:67137455 [GRCh38]
Chr8:68049690 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.1051G>A (p.Ala351Thr) single nucleotide variant Joubert syndrome 21 [RCV003016774] Chr8:67105933 [GRCh38]
Chr8:68018168 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.663T>G (p.Asp221Glu) single nucleotide variant Joubert syndrome 21 [RCV002512441] Chr8:67095472 [GRCh38]
Chr8:68007707 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3330+17del deletion Joubert syndrome 21 [RCV002903593] Chr8:67190773 [GRCh38]
Chr8:68103008 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.672C>T (p.Ile224=) single nucleotide variant Joubert syndrome 21 [RCV002926858]|not provided [RCV003434520] Chr8:67095481 [GRCh38]
Chr8:68007716 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1764T>C (p.Phe588=) single nucleotide variant Joubert syndrome 21 [RCV003003199] Chr8:67132017 [GRCh38]
Chr8:68044252 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2687G>A (p.Arg896Lys) single nucleotide variant Joubert syndrome 21 [RCV002928105] Chr8:67163775 [GRCh38]
Chr8:68076010 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1093+16C>A single nucleotide variant Joubert syndrome 21 [RCV003053527] Chr8:67105991 [GRCh38]
Chr8:68018226 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-139G>C single nucleotide variant Joubert syndrome 21 [RCV002572131] Chr8:67064410 [GRCh38]
Chr8:67976645 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.239_240del (p.Asp79_Tyr80insTer) deletion Joubert syndrome 21 [RCV002638901] Chr8:67086045..67086046 [GRCh38]
Chr8:67998280..67998281 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.-57C>G single nucleotide variant Inborn genetic diseases [RCV003081584]|Joubert syndrome 21 [RCV003069072] Chr8:67064492 [GRCh38]
Chr8:67976727 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1045A>G (p.Lys349Glu) single nucleotide variant Joubert syndrome 21 [RCV002820673] Chr8:67105927 [GRCh38]
Chr8:68018162 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1457G>A (p.Ser486Asn) single nucleotide variant Joubert syndrome 21 [RCV003038462] Chr8:67116083 [GRCh38]
Chr8:68028318 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3398A>C (p.Asp1133Ala) single nucleotide variant Joubert syndrome 21 [RCV003021918] Chr8:67193531 [GRCh38]
Chr8:68105766 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3072G>C (p.Lys1024Asn) single nucleotide variant Joubert syndrome 21 [RCV003019469] Chr8:67175399 [GRCh38]
Chr8:68087634 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.436A>G (p.Lys146Glu) single nucleotide variant Joubert syndrome 21 [RCV002593407] Chr8:67093594 [GRCh38]
Chr8:68005829 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2697G>A (p.Gln899=) single nucleotide variant Joubert syndrome 21 [RCV003021896] Chr8:67163785 [GRCh38]
Chr8:68076020 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3470-12T>C single nucleotide variant Joubert syndrome 21 [RCV002636265] Chr8:67195370 [GRCh38]
Chr8:68107605 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1827G>A (p.Gln609=) single nucleotide variant Joubert syndrome 21 [RCV002796966] Chr8:67132080 [GRCh38]
Chr8:68044315 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3220+7A>G single nucleotide variant Joubert syndrome 21 [RCV003002844] Chr8:67179933 [GRCh38]
Chr8:68092168 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3622C>T (p.Gln1208Ter) single nucleotide variant Joubert syndrome 21 [RCV002825478] Chr8:67195534 [GRCh38]
Chr8:68107769 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-138C>T single nucleotide variant Joubert syndrome 21 [RCV003053049] Chr8:67064411 [GRCh38]
Chr8:67976646 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.106T>C (p.Leu36=) single nucleotide variant Joubert syndrome 21 [RCV003077350] Chr8:67076488 [GRCh38]
Chr8:67988723 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2832A>G (p.Lys944=) single nucleotide variant Joubert syndrome 21 [RCV003100191] Chr8:67172419 [GRCh38]
Chr8:68084654 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1027C>T (p.Pro343Ser) single nucleotide variant Joubert syndrome 21 [RCV002760677] Chr8:67105909 [GRCh38]
Chr8:68018144 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1975+18A>C single nucleotide variant Joubert syndrome 21 [RCV002999716] Chr8:67137621 [GRCh38]
Chr8:68049856 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3585dup (p.Arg1196fs) duplication Joubert syndrome 21 [RCV002705615] Chr8:67195494..67195495 [GRCh38]
Chr8:68107729..68107730 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1567G>T (p.Ala523Ser) single nucleotide variant Joubert syndrome 21 [RCV002796631] Chr8:67118318 [GRCh38]
Chr8:68030553 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2644-11T>G single nucleotide variant Joubert syndrome 21 [RCV002847306] Chr8:67163721 [GRCh38]
Chr8:68075956 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2242-13T>C single nucleotide variant Joubert syndrome 21 [RCV002998739] Chr8:67158434 [GRCh38]
Chr8:68070669 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1691C>G (p.Pro564Arg) single nucleotide variant Joubert syndrome 21 [RCV002975968] Chr8:67118815 [GRCh38]
Chr8:68031050 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2821C>G (p.Pro941Ala) single nucleotide variant Joubert syndrome 21 [RCV003019887] Chr8:67164501 [GRCh38]
Chr8:68076736 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2781A>G (p.Leu927=) single nucleotide variant Joubert syndrome 21 [RCV002756844] Chr8:67164461 [GRCh38]
Chr8:68076696 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3639A>G (p.Pro1213=) single nucleotide variant Joubert syndrome 21 [RCV002867252] Chr8:67195551 [GRCh38]
Chr8:68107786 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2136G>A (p.Met712Ile) single nucleotide variant Joubert syndrome 21 [RCV003018587] Chr8:67154031 [GRCh38]
Chr8:68066266 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3293G>A (p.Arg1098Gln) single nucleotide variant Joubert syndrome 21 [RCV002658583] Chr8:67190722 [GRCh38]
Chr8:68102957 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3141A>G (p.Val1047=) single nucleotide variant Joubert syndrome 21 [RCV002909273] Chr8:67177711 [GRCh38]
Chr8:68089946 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1111C>T (p.Leu371Phe) single nucleotide variant Joubert syndrome 21 [RCV003080723] Chr8:67111989 [GRCh38]
Chr8:68024224 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1612G>T (p.Ala538Ser) single nucleotide variant Joubert syndrome 21 [RCV002591830] Chr8:67118363 [GRCh38]
Chr8:68030598 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2188A>G (p.Thr730Ala) single nucleotide variant Joubert syndrome 21 [RCV002824362] Chr8:67154083 [GRCh38]
Chr8:68066318 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3221-5C>T single nucleotide variant Joubert syndrome 21 [RCV002761501] Chr8:67190645 [GRCh38]
Chr8:68102880 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1724A>G (p.Lys575Arg) single nucleotide variant Joubert syndrome 21 [RCV002885521] Chr8:67131977 [GRCh38]
Chr8:68044212 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.403C>T (p.Arg135Cys) single nucleotide variant Joubert syndrome 21 [RCV002979658] Chr8:67093561 [GRCh38]
Chr8:68005796 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3220+13_3220+16del microsatellite Joubert syndrome 21 [RCV003036325] Chr8:67179934..67179937 [GRCh38]
Chr8:68092169..68092172 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3354A>G (p.Ala1118=) single nucleotide variant CSPP1-related disorder [RCV003936437]|Joubert syndrome 21 [RCV002953166] Chr8:67193487 [GRCh38]
Chr8:68105722 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.483+6T>C single nucleotide variant Joubert syndrome 21 [RCV002909185] Chr8:67093647 [GRCh38]
Chr8:68005882 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2657C>T (p.Ser886Phe) single nucleotide variant Inborn genetic diseases [RCV002590656]|Joubert syndrome 21 [RCV002590657] Chr8:67163745 [GRCh38]
Chr8:68075980 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.585T>G (p.Asp195Glu) single nucleotide variant Inborn genetic diseases [RCV002868798] Chr8:67095394 [GRCh38]
Chr8:68007629 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3283C>A (p.Pro1095Thr) single nucleotide variant Joubert syndrome 21 [RCV002923485] Chr8:67190712 [GRCh38]
Chr8:68102947 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1521C>G (p.Pro507=) single nucleotide variant Joubert syndrome 21 [RCV002591829] Chr8:67118272 [GRCh38]
Chr8:68030507 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3652T>C (p.Trp1218Arg) single nucleotide variant Joubert syndrome 21 [RCV002912485] Chr8:67195564 [GRCh38]
Chr8:68107799 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.259_263del (p.Leu87fs) deletion Joubert syndrome 21 [RCV003079178] Chr8:67086062..67086066 [GRCh38]
Chr8:67998297..67998301 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.3306G>T (p.Arg1102Ser) single nucleotide variant Inborn genetic diseases [RCV002661366] Chr8:67190735 [GRCh38]
Chr8:68102970 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-73G>C single nucleotide variant Joubert syndrome 21 [RCV002636841] Chr8:67064476 [GRCh38]
Chr8:67976711 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1784C>A (p.Ser595Tyr) single nucleotide variant Joubert syndrome 21 [RCV002636344] Chr8:67132037 [GRCh38]
Chr8:68044272 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.264del (p.Glu89fs) deletion Joubert syndrome 21 [RCV002590381] Chr8:67086068 [GRCh38]
Chr8:67998303 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.1188-15T>G single nucleotide variant Joubert syndrome 21 [RCV002876020] Chr8:67113790 [GRCh38]
Chr8:68026025 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-125C>A single nucleotide variant Joubert syndrome 21 [RCV002829378] Chr8:67064424 [GRCh38]
Chr8:67976659 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.442G>T (p.Glu148Ter) single nucleotide variant Joubert syndrome 21 [RCV003057104] Chr8:67093600 [GRCh38]
Chr8:68005835 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.1083del (p.Met362fs) deletion Joubert syndrome 21 [RCV002875553] Chr8:67105963 [GRCh38]
Chr8:68018198 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2122A>C (p.Ser708Arg) single nucleotide variant Joubert syndrome 21 [RCV002790417] Chr8:67149929 [GRCh38]
Chr8:68062164 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.100-2A>C single nucleotide variant Joubert syndrome 21 [RCV002876211] Chr8:67076480 [GRCh38]
Chr8:67988715 [GRCh37]
Chr8:8q13.1		 likely pathogenic
NM_001382391.1(CSPP1):c.1975+5G>A single nucleotide variant Joubert syndrome 21 [RCV002958511] Chr8:67137608 [GRCh38]
Chr8:68049843 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1850G>A (p.Arg617Lys) single nucleotide variant Inborn genetic diseases [RCV002957956]|Joubert syndrome 21 [RCV002957955] Chr8:67137478 [GRCh38]
Chr8:68049713 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1619-8del deletion Joubert syndrome 21 [RCV002575890] Chr8:67118730 [GRCh38]
Chr8:68030965 [GRCh37]
Chr8:8q13.2		 benign
NM_001382391.1(CSPP1):c.-104A>G single nucleotide variant Joubert syndrome 21 [RCV003040544] Chr8:67064445 [GRCh38]
Chr8:67976680 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.633A>G (p.Arg211=) single nucleotide variant Joubert syndrome 21 [RCV003042543] Chr8:67095442 [GRCh38]
Chr8:68007677 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.577A>G (p.Arg193Gly) single nucleotide variant Joubert syndrome 21 [RCV002918504] Chr8:67095386 [GRCh38]
Chr8:68007621 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3254A>G (p.Asp1085Gly) single nucleotide variant Inborn genetic diseases [RCV003269349]|Joubert syndrome 21 [RCV002954279] Chr8:67190683 [GRCh38]
Chr8:68102918 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3510A>G (p.Lys1170=) single nucleotide variant Joubert syndrome 21 [RCV003043500] Chr8:67195422 [GRCh38]
Chr8:68107657 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3166G>A (p.Asp1056Asn) single nucleotide variant Joubert syndrome 21 [RCV003005025] Chr8:67179872 [GRCh38]
Chr8:68092107 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.228T>C (p.Leu76=) single nucleotide variant Joubert syndrome 21 [RCV003084395] Chr8:67086035 [GRCh38]
Chr8:67998270 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.236A>T (p.Asp79Val) single nucleotide variant Joubert syndrome 21 [RCV002791223] Chr8:67086043 [GRCh38]
Chr8:67998278 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.224C>T (p.Pro75Leu) single nucleotide variant Joubert syndrome 21 [RCV002932496] Chr8:67086031 [GRCh38]
Chr8:67998266 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.816G>T (p.Arg272=) single nucleotide variant Joubert syndrome 21 [RCV003043393] Chr8:67095625 [GRCh38]
Chr8:68007860 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2062T>C (p.Ser688Pro) single nucleotide variant Joubert syndrome 21 [RCV003056970] Chr8:67149869 [GRCh38]
Chr8:68062104 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.291T>C (p.Arg97=) single nucleotide variant Joubert syndrome 21 [RCV002829233] Chr8:67086098 [GRCh38]
Chr8:67998333 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2183C>G (p.Pro728Arg) single nucleotide variant Joubert syndrome 21 [RCV002890556] Chr8:67154078 [GRCh38]
Chr8:68066313 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.638A>G (p.Glu213Gly) single nucleotide variant Joubert syndrome 21 [RCV002850892] Chr8:67095447 [GRCh38]
Chr8:68007682 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1023-16_1023-13del deletion Joubert syndrome 21 [RCV002624170] Chr8:67105886..67105889 [GRCh38]
Chr8:68018121..68018124 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1023-9T>A single nucleotide variant Joubert syndrome 21 [RCV002595276] Chr8:67105896 [GRCh38]
Chr8:68018131 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3289G>A (p.Ala1097Thr) single nucleotide variant Joubert syndrome 21 [RCV002624239] Chr8:67190718 [GRCh38]
Chr8:68102953 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1023-3T>C single nucleotide variant Joubert syndrome 21 [RCV003042048] Chr8:67105902 [GRCh38]
Chr8:68018137 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1989G>A (p.Arg663=) single nucleotide variant Joubert syndrome 21 [RCV002917546] Chr8:67149796 [GRCh38]
Chr8:68062031 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1023-4T>G single nucleotide variant Joubert syndrome 21 [RCV002766170] Chr8:67105901 [GRCh38]
Chr8:68018136 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.99+5A>G single nucleotide variant Joubert syndrome 21 [RCV003082354] Chr8:67074356 [GRCh38]
Chr8:67986591 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3330+19T>A single nucleotide variant Joubert syndrome 21 [RCV002740801] Chr8:67190778 [GRCh38]
Chr8:68103013 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2869A>G (p.Arg957Gly) single nucleotide variant Joubert syndrome 21 [RCV003040855] Chr8:67172456 [GRCh38]
Chr8:68084691 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2370G>T (p.Lys790Asn) single nucleotide variant Joubert syndrome 21 [RCV002623359] Chr8:67158575 [GRCh38]
Chr8:68070810 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1093+16C>G single nucleotide variant Joubert syndrome 21 [RCV002625334] Chr8:67105991 [GRCh38]
Chr8:68018226 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3478A>C (p.Ser1160Arg) single nucleotide variant Joubert syndrome 21 [RCV002890558] Chr8:67195390 [GRCh38]
Chr8:68107625 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3469+10C>T single nucleotide variant Joubert syndrome 21 [RCV003043045] Chr8:67193612 [GRCh38]
Chr8:68105847 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2788C>G (p.Arg930Gly) single nucleotide variant Joubert syndrome 21 [RCV002596207] Chr8:67164468 [GRCh38]
Chr8:68076703 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3477_3479dup (p.Glu1159_Ser1160insArg) duplication Joubert syndrome 21 [RCV002890565] Chr8:67195388..67195389 [GRCh38]
Chr8:68107623..68107624 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.449G>T (p.Ser150Ile) single nucleotide variant Inborn genetic diseases [RCV002744901]|Joubert syndrome 21 [RCV005059444] Chr8:67093607 [GRCh38]
Chr8:68005842 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2295A>G (p.Ala765=) single nucleotide variant Joubert syndrome 21 [RCV002957380] Chr8:67158500 [GRCh38]
Chr8:68070735 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2740T>C (p.Ser914Pro) single nucleotide variant Joubert syndrome 21 [RCV003007204] Chr8:67164420 [GRCh38]
Chr8:68076655 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3330+20C>T single nucleotide variant Joubert syndrome 21 [RCV003085119] Chr8:67190779 [GRCh38]
Chr8:68103014 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.903G>A (p.Ser301=) single nucleotide variant CSPP1-related disorder [RCV003926406]|Joubert syndrome 21 [RCV002576098] Chr8:67095712 [GRCh38]
Chr8:68007947 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1600G>T (p.Asp534Tyr) single nucleotide variant Joubert syndrome 21 [RCV002624314] Chr8:67118351 [GRCh38]
Chr8:68030586 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2323G>C (p.Glu775Gln) single nucleotide variant Joubert syndrome 21 [RCV003058863] Chr8:67158528 [GRCh38]
Chr8:68070763 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1209G>C (p.Arg403Ser) single nucleotide variant Joubert syndrome 21 [RCV002623295] Chr8:67113826 [GRCh38]
Chr8:68026061 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3525C>A (p.Asp1175Glu) single nucleotide variant Joubert syndrome 21 [RCV002593967] Chr8:67195437 [GRCh38]
Chr8:68107672 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.206A>G (p.Asp69Gly) single nucleotide variant Joubert syndrome 21 [RCV002572723] Chr8:67086013 [GRCh38]
Chr8:67998248 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2037A>T (p.Thr679=) single nucleotide variant Joubert syndrome 21 [RCV002626961] Chr8:67149844 [GRCh38]
Chr8:68062079 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1172A>G (p.Gln391Arg) single nucleotide variant Joubert syndrome 21 [RCV003022180] Chr8:67112050 [GRCh38]
Chr8:68024285 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3606G>C (p.Leu1202=) single nucleotide variant Joubert syndrome 21 [RCV002626707] Chr8:67195518 [GRCh38]
Chr8:68107753 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1196A>G (p.Asp399Gly) single nucleotide variant Joubert syndrome 21 [RCV002801673] Chr8:67113813 [GRCh38]
Chr8:68026048 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2821C>A (p.Pro941Thr) single nucleotide variant Joubert syndrome 21 [RCV003023703] Chr8:67164501 [GRCh38]
Chr8:68076736 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2128+24_2128+36del deletion Joubert syndrome 21 [RCV002596295] Chr8:67149948..67149960 [GRCh38]
Chr8:68062183..68062195 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2644-18G>C single nucleotide variant Joubert syndrome 21 [RCV002711993] Chr8:67163714 [GRCh38]
Chr8:68075949 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3253G>A (p.Asp1085Asn) single nucleotide variant Joubert syndrome 21 [RCV002876088] Chr8:67190682 [GRCh38]
Chr8:68102917 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2184T>C (p.Pro728=) single nucleotide variant Joubert syndrome 21 [RCV002894409] Chr8:67154079 [GRCh38]
Chr8:68066314 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3266del (p.Pro1089fs) deletion Joubert syndrome 21 [RCV002626911] Chr8:67190693 [GRCh38]
Chr8:68102928 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2669C>A (p.Ser890Ter) single nucleotide variant Joubert syndrome 21 [RCV002851901] Chr8:67163757 [GRCh38]
Chr8:68075992 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2128+11A>C single nucleotide variant Joubert syndrome 21 [RCV003056130] Chr8:67149946 [GRCh38]
Chr8:68062181 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2753A>G (p.Lys918Arg) single nucleotide variant Joubert syndrome 21 [RCV003023502] Chr8:67164433 [GRCh38]
Chr8:68076668 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1406C>T (p.Pro469Leu) single nucleotide variant Joubert syndrome 21 [RCV003040554] Chr8:67116032 [GRCh38]
Chr8:68028267 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1771A>C (p.Lys591Gln) single nucleotide variant Joubert syndrome 21 [RCV002957798] Chr8:67132024 [GRCh38]
Chr8:68044259 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2594A>G (p.Lys865Arg) single nucleotide variant Joubert syndrome 21 [RCV002851217] Chr8:67161866 [GRCh38]
Chr8:68074101 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.200-5del deletion Joubert syndrome 21 [RCV002766803] Chr8:67085995 [GRCh38]
Chr8:67998230 [GRCh37]
Chr8:8q13.1		 benign
NM_001382391.1(CSPP1):c.2391+4C>T single nucleotide variant Joubert syndrome 21 [RCV003084988] Chr8:67158600 [GRCh38]
Chr8:68070835 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2675C>T (p.Pro892Leu) single nucleotide variant Inborn genetic diseases [RCV004978462]|Joubert syndrome 21 [RCV003005099]|Retinal dystrophy [RCV004817161] Chr8:67163763 [GRCh38]
Chr8:68075998 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1556C>A (p.Pro519His) single nucleotide variant Joubert syndrome 21 [RCV002851300] Chr8:67118307 [GRCh38]
Chr8:68030542 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1498A>T (p.Ile500Phe) single nucleotide variant Joubert syndrome 21 [RCV002721186] Chr8:67118249 [GRCh38]
Chr8:68030484 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2101C>T (p.Leu701=) single nucleotide variant Joubert syndrome 21 [RCV002856582] Chr8:67149908 [GRCh38]
Chr8:68062143 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1991T>C (p.Met664Thr) single nucleotide variant Joubert syndrome 21 [RCV003028158] Chr8:67149798 [GRCh38]
Chr8:68062033 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2377G>C (p.Glu793Gln) single nucleotide variant Joubert syndrome 21 [RCV002580233] Chr8:67158582 [GRCh38]
Chr8:68070817 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3155T>C (p.Met1052Thr) single nucleotide variant Joubert syndrome 21 [RCV003065923] Chr8:67177725 [GRCh38]
Chr8:68089960 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1775C>T (p.Pro592Leu) single nucleotide variant Joubert syndrome 21 [RCV002721174] Chr8:67132028 [GRCh38]
Chr8:68044263 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2514C>G (p.Asp838Glu) single nucleotide variant Joubert syndrome 21 [RCV003047460]|not provided [RCV003443108] Chr8:67159113 [GRCh38]
Chr8:68071348 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1722G>A (p.Leu574=) single nucleotide variant Joubert syndrome 21 [RCV002966415] Chr8:67131975 [GRCh38]
Chr8:68044210 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.169C>T (p.Pro57Ser) single nucleotide variant Joubert syndrome 21 [RCV003090947] Chr8:67076551 [GRCh38]
Chr8:67988786 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3662T>C (p.Leu1221Pro) single nucleotide variant Joubert syndrome 21 [RCV002720242] Chr8:67195574 [GRCh38]
Chr8:68107809 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.30del (p.Glu11fs) deletion Joubert syndrome 21 [RCV003089289] Chr8:67074281 [GRCh38]
Chr8:67986516 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.2124C>T (p.Ser708=) single nucleotide variant Joubert syndrome 21 [RCV002581617] Chr8:67149931 [GRCh38]
Chr8:68062166 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3652_3662del (p.Trp1218fs) deletion Joubert syndrome 21 [RCV003064146] Chr8:67195562..67195572 [GRCh38]
Chr8:68107797..68107807 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1188-3T>C single nucleotide variant Inborn genetic diseases [RCV003070210]|Joubert syndrome 21 [RCV003091248] Chr8:67113802 [GRCh38]
Chr8:68026037 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1969C>G (p.Leu657Val) single nucleotide variant Joubert syndrome 21 [RCV002900620] Chr8:67137597 [GRCh38]
Chr8:68049832 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1094-6A>G single nucleotide variant Joubert syndrome 21 [RCV003065456] Chr8:67111966 [GRCh38]
Chr8:68024201 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1288-12del deletion Joubert syndrome 21 [RCV002628186] Chr8:67115895 [GRCh38]
Chr8:68028130 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1024G>T (p.Ala342Ser) single nucleotide variant Joubert syndrome 21 [RCV002715453] Chr8:67105906 [GRCh38]
Chr8:68018141 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2266G>T (p.Glu756Ter) single nucleotide variant Joubert syndrome 21 [RCV002833541] Chr8:67158471 [GRCh38]
Chr8:68070706 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.796G>A (p.Asp266Asn) single nucleotide variant Joubert syndrome 21 [RCV002578880] Chr8:67095605 [GRCh38]
Chr8:68007840 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.-90C>T single nucleotide variant Joubert syndrome 21 [RCV002598105] Chr8:67064459 [GRCh38]
Chr8:67976694 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3366C>T (p.Leu1122=) single nucleotide variant Joubert syndrome 21 [RCV002834601] Chr8:67193499 [GRCh38]
Chr8:68105734 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1102G>A (p.Asp368Asn) single nucleotide variant Joubert syndrome 21 [RCV002856462] Chr8:67111980 [GRCh38]
Chr8:68024215 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.959T>C (p.Met320Thr) single nucleotide variant Joubert syndrome 21 [RCV002922586] Chr8:67103072 [GRCh38]
Chr8:68015307 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3660C>T (p.Gly1220=) single nucleotide variant Joubert syndrome 21 [RCV002937497] Chr8:67195572 [GRCh38]
Chr8:68107807 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2538+19T>C single nucleotide variant Joubert syndrome 21 [RCV003027246] Chr8:67159156 [GRCh38]
Chr8:68071391 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1677C>T (p.His559=) single nucleotide variant Joubert syndrome 21 [RCV002962673] Chr8:67118801 [GRCh38]
Chr8:68031036 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.745T>C (p.Phe249Leu) single nucleotide variant Joubert syndrome 21 [RCV002746407] Chr8:67095554 [GRCh38]
Chr8:68007789 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3105C>T (p.Ala1035=) single nucleotide variant Joubert syndrome 21 [RCV002629076] Chr8:67175432 [GRCh38]
Chr8:68087667 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2600A>G (p.Gln867Arg) single nucleotide variant Joubert syndrome 21 [RCV002834516] Chr8:67161872 [GRCh38]
Chr8:68074107 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1359A>G (p.Arg453=) single nucleotide variant Joubert syndrome 21 [RCV002770386] Chr8:67115985 [GRCh38]
Chr8:68028220 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.417C>T (p.Tyr139=) single nucleotide variant Joubert syndrome 21 [RCV002856640] Chr8:67093575 [GRCh38]
Chr8:68005810 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1023-16G>A single nucleotide variant Joubert syndrome 21 [RCV003090097] Chr8:67105889 [GRCh38]
Chr8:68018124 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-10-5del deletion Joubert syndrome 21 [RCV003061099] Chr8:67074230 [GRCh38]
Chr8:67986465 [GRCh37]
Chr8:8q13.1		 benign
NM_001382391.1(CSPP1):c.385-16del deletion Joubert syndrome 21 [RCV002895536] Chr8:67093524 [GRCh38]
Chr8:68005759 [GRCh37]
Chr8:8q13.1		 benign
NM_001382391.1(CSPP1):c.1942G>A (p.Ala648Thr) single nucleotide variant Joubert syndrome 21 [RCV002770429] Chr8:67137570 [GRCh38]
Chr8:68049805 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.42C>T (p.Ala14=) single nucleotide variant Joubert syndrome 21 [RCV002899191] Chr8:67074294 [GRCh38]
Chr8:67986529 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2514C>T (p.Asp838=) single nucleotide variant Joubert syndrome 21 [RCV002877001] Chr8:67159113 [GRCh38]
Chr8:68071348 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2523T>C (p.Ile841=) single nucleotide variant Joubert syndrome 21 [RCV003088176] Chr8:67159122 [GRCh38]
Chr8:68071357 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.441A>G (p.Glu147=) single nucleotide variant Joubert syndrome 21 [RCV002601673] Chr8:67093599 [GRCh38]
Chr8:68005834 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1780C>T (p.Pro594Ser) single nucleotide variant Joubert syndrome 21 [RCV002675713] Chr8:67132033 [GRCh38]
Chr8:68044268 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2796A>G (p.Leu932=) single nucleotide variant Joubert syndrome 21 [RCV002646248] Chr8:67164476 [GRCh38]
Chr8:68076711 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2829-7T>C single nucleotide variant Joubert syndrome 21 [RCV003046694] Chr8:67172409 [GRCh38]
Chr8:68084644 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1395C>A (p.Ala465=) single nucleotide variant Joubert syndrome 21 [RCV002810623] Chr8:67116021 [GRCh38]
Chr8:68028256 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2477_2478insT (p.Lys826fs) insertion Joubert syndrome 21 [RCV002857145] Chr8:67159076..67159077 [GRCh38]
Chr8:68071311..68071312 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.955C>G (p.Pro319Ala) single nucleotide variant Inborn genetic diseases [RCV002963948] Chr8:67103068 [GRCh38]
Chr8:68015303 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2530G>C (p.Glu844Gln) single nucleotide variant Joubert syndrome 21 [RCV002601225] Chr8:67159129 [GRCh38]
Chr8:68071364 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.936C>G (p.Asn312Lys) single nucleotide variant Inborn genetic diseases [RCV002836196] Chr8:67103049 [GRCh38]
Chr8:68015284 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3213T>C (p.Ala1071=) single nucleotide variant Joubert syndrome 21 [RCV003090923] Chr8:67179919 [GRCh38]
Chr8:68092154 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1801T>C (p.Ser601Pro) single nucleotide variant Joubert syndrome 21 [RCV003027293] Chr8:67132054 [GRCh38]
Chr8:68044289 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.385-9dup duplication Joubert syndrome 21 [RCV002629678] Chr8:67093529..67093530 [GRCh38]
Chr8:68005764..68005765 [GRCh37]
Chr8:8q13.1		 benign
NM_001382391.1(CSPP1):c.-47A>G single nucleotide variant Joubert syndrome 21 [RCV002671554] Chr8:67064502 [GRCh38]
Chr8:67976737 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1384C>T (p.Pro462Ser) single nucleotide variant Joubert syndrome 21 [RCV002714866] Chr8:67116010 [GRCh38]
Chr8:68028245 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3221-1G>A single nucleotide variant Joubert syndrome 21 [RCV002877521] Chr8:67190649 [GRCh38]
Chr8:68102884 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.3569C>T (p.Thr1190Ile) single nucleotide variant Joubert syndrome 21 [RCV002672035] Chr8:67195481 [GRCh38]
Chr8:68107716 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2969-19A>G single nucleotide variant Joubert syndrome 21 [RCV003090388] Chr8:67175277 [GRCh38]
Chr8:68087512 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2539-18A>G single nucleotide variant Joubert syndrome 21 [RCV002937189] Chr8:67161793 [GRCh38]
Chr8:68074028 [GRCh37]
Chr8:8q13.2		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.676T>A (p.Leu226Ile) single nucleotide variant Joubert syndrome 21 [RCV002720110]|Retinal dystrophy [RCV004817098] Chr8:67095485 [GRCh38]
Chr8:68007720 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2419C>G (p.Arg807Gly) single nucleotide variant Inborn genetic diseases [RCV003071191]|Joubert syndrome 21 [RCV003064785] Chr8:67159018 [GRCh38]
Chr8:68071253 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1078G>T (p.Ala360Ser) single nucleotide variant Joubert syndrome 21 [RCV002580649] Chr8:67105960 [GRCh38]
Chr8:68018195 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2315G>A (p.Arg772Gln) single nucleotide variant Joubert syndrome 21 [RCV003064901] Chr8:67158520 [GRCh38]
Chr8:68070755 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.166C>T (p.Pro56Ser) single nucleotide variant Inborn genetic diseases [RCV005323339]|Joubert syndrome 21 [RCV003091749] Chr8:67076548 [GRCh38]
Chr8:67988783 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2048A>G (p.Lys683Arg) single nucleotide variant Inborn genetic diseases [RCV002959725] Chr8:67149855 [GRCh38]
Chr8:68062090 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2785G>C (p.Glu929Gln) single nucleotide variant Joubert syndrome 21 [RCV002856259] Chr8:67164465 [GRCh38]
Chr8:68076700 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.434G>A (p.Gly145Asp) single nucleotide variant Inborn genetic diseases [RCV003294429]|Joubert syndrome 21 [RCV003062764] Chr8:67093592 [GRCh38]
Chr8:68005827 [GRCh37]
Chr8:8q13.1		 likely benign|uncertain significance
NM_001382391.1(CSPP1):c.200-5T>C single nucleotide variant Joubert syndrome 21 [RCV002833060] Chr8:67086002 [GRCh38]
Chr8:67998237 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1022G>A (p.Ser341Asn) single nucleotide variant Joubert syndrome 21 [RCV003068445] Chr8:67103135 [GRCh38]
Chr8:68015370 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2103A>G (p.Leu701=) single nucleotide variant Joubert syndrome 21 [RCV002814326] Chr8:67149910 [GRCh38]
Chr8:68062145 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1975+6T>C single nucleotide variant Joubert syndrome 21 [RCV002722015] Chr8:67137609 [GRCh38]
Chr8:68049844 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1131G>A (p.Glu377=) single nucleotide variant Joubert syndrome 21 [RCV003069305] Chr8:67112009 [GRCh38]
Chr8:68024244 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3640G>T (p.Gly1214Cys) single nucleotide variant Joubert syndrome 21 [RCV003092753] Chr8:67195552 [GRCh38]
Chr8:68107787 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2491C>T (p.Leu831Phe) single nucleotide variant Joubert syndrome 21 [RCV002814611] Chr8:67159090 [GRCh38]
Chr8:68071325 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.873A>C (p.Arg291Ser) single nucleotide variant Joubert syndrome 21 [RCV002604657] Chr8:67095682 [GRCh38]
Chr8:68007917 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1245+7G>A single nucleotide variant Joubert syndrome 21 [RCV003032085] Chr8:67113869 [GRCh38]
Chr8:68026104 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.692T>C (p.Ile231Thr) single nucleotide variant Joubert syndrome 21 [RCV003067443] Chr8:67095501 [GRCh38]
Chr8:68007736 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.-121A>C single nucleotide variant Joubert syndrome 21 [RCV002585655] Chr8:67064428 [GRCh38]
Chr8:67976663 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1210G>T (p.Val404Phe) single nucleotide variant Joubert syndrome 21 [RCV002609296] Chr8:67113827 [GRCh38]
Chr8:68026062 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.843A>C (p.Glu281Asp) single nucleotide variant Joubert syndrome 21 [RCV002586705] Chr8:67095652 [GRCh38]
Chr8:68007887 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3439A>C (p.Asn1147His) single nucleotide variant Joubert syndrome 21 [RCV003071551] Chr8:67193572 [GRCh38]
Chr8:68105807 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1425T>G (p.His475Gln) single nucleotide variant Joubert syndrome 21 [RCV002633493] Chr8:67116051 [GRCh38]
Chr8:68028286 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2835G>A (p.Lys945=) single nucleotide variant Joubert syndrome 21 [RCV002589216] Chr8:67172422 [GRCh38]
Chr8:68084657 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2791T>C (p.Leu931=) single nucleotide variant Joubert syndrome 21 [RCV003071745] Chr8:67164471 [GRCh38]
Chr8:68076706 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1541C>A (p.Thr514Asn) single nucleotide variant Joubert syndrome 21 [RCV003052661] Chr8:67118292 [GRCh38]
Chr8:68030527 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3580C>T (p.Leu1194=) single nucleotide variant Joubert syndrome 21 [RCV003072074] Chr8:67195492 [GRCh38]
Chr8:68107727 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3168C>T (p.Asp1056=) single nucleotide variant Joubert syndrome 21 [RCV002680773] Chr8:67179874 [GRCh38]
Chr8:68092109 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1317A>C (p.Ala439=) single nucleotide variant Joubert syndrome 21 [RCV002585581] Chr8:67115943 [GRCh38]
Chr8:68028178 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1456A>G (p.Ser486Gly) single nucleotide variant Joubert syndrome 21 [RCV003072422] Chr8:67116082 [GRCh38]
Chr8:68028317 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2297A>G (p.Glu766Gly) single nucleotide variant Joubert syndrome 21 [RCV003051384] Chr8:67158502 [GRCh38]
Chr8:68070737 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1029A>T (p.Pro343=) single nucleotide variant Joubert syndrome 21 [RCV002942862] Chr8:67105911 [GRCh38]
Chr8:68018146 [GRCh37]
Chr8:8q13.2		 likely benign
NC_000008.11:g.67064385_67064399del deletion Joubert syndrome 21 [RCV002654652] Chr8:67064385..67064399 [GRCh38]
Chr8:67976620..67976634 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2542A>G (p.Met848Val) single nucleotide variant Joubert syndrome 21 [RCV002611695] Chr8:67161814 [GRCh38]
Chr8:68074049 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.579A>G (p.Arg193=) single nucleotide variant Joubert syndrome 21 [RCV003070133] Chr8:67095388 [GRCh38]
Chr8:68007623 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1218G>A (p.Ala406=) single nucleotide variant Joubert syndrome 21 [RCV002612674] Chr8:67113835 [GRCh38]
Chr8:68026070 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.294T>A (p.Tyr98Ter) single nucleotide variant Joubert syndrome 21 [RCV004796438] Chr8:67086101 [GRCh38]
Chr8:67998336 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.922A>G (p.Arg308Gly) single nucleotide variant not provided [RCV003221665] Chr8:67095731 [GRCh38]
Chr8:68007966 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.3425G>A (p.Arg1142Gln) single nucleotide variant Inborn genetic diseases [RCV003191805] Chr8:67193558 [GRCh38]
Chr8:68105793 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3586C>T (p.Arg1196Cys) single nucleotide variant not provided [RCV003221729] Chr8:67195498 [GRCh38]
Chr8:68107733 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp) single nucleotide variant Joubert syndrome 21 [RCV003143381] Chr8:67195553 [GRCh38]
Chr8:68107788 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3330+2T>C single nucleotide variant Joubert syndrome 21 [RCV003143380] Chr8:67190761 [GRCh38]
Chr8:68102996 [GRCh37]
Chr8:8q13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001382391.1(CSPP1):c.2969-3C>G single nucleotide variant not provided [RCV003228374] Chr8:67175293 [GRCh38]
Chr8:68087528 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2899C>T (p.Gln967Ter) single nucleotide variant not provided [RCV003319684] Chr8:67172486 [GRCh38]
Chr8:68084721 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1602T>C (p.Asp534=) single nucleotide variant not provided [RCV003423936] Chr8:67118353 [GRCh38]
Chr8:68030588 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1624del (p.Ser542fs) deletion Joubert syndrome 21 [RCV003479785] Chr8:67118747 [GRCh38]
Chr8:68030982 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2082C>T (p.Ala694=) single nucleotide variant Joubert syndrome 21 [RCV003873808] Chr8:67149889 [GRCh38]
Chr8:68062124 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3143G>A (p.Arg1048Gln) single nucleotide variant Joubert syndrome 21 [RCV003743449] Chr8:67177713 [GRCh38]
Chr8:68089948 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1824G>A (p.Gln608=) single nucleotide variant not provided [RCV003435516] Chr8:67132077 [GRCh38]
Chr8:68044312 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3470-4G>A single nucleotide variant Joubert syndrome 21 [RCV003583665] Chr8:67195378 [GRCh38]
Chr8:68107613 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1245G>T (p.Ser415=) single nucleotide variant Joubert syndrome 21 [RCV003876314] Chr8:67113862 [GRCh38]
Chr8:68026097 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3273A>G (p.Pro1091=) single nucleotide variant Joubert syndrome 21 [RCV003583807] Chr8:67190702 [GRCh38]
Chr8:68102937 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3525C>T (p.Asp1175=) single nucleotide variant Joubert syndrome 21 [RCV003745097] Chr8:67195437 [GRCh38]
Chr8:68107672 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.30A>G (p.Glu10=) single nucleotide variant Joubert syndrome 21 [RCV003878230] Chr8:67074282 [GRCh38]
Chr8:67986517 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1619-13T>C single nucleotide variant Joubert syndrome 21 [RCV003881203] Chr8:67118730 [GRCh38]
Chr8:68030965 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3330+13C>A single nucleotide variant Joubert syndrome 21 [RCV003744102] Chr8:67190772 [GRCh38]
Chr8:68103007 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3220+8T>C single nucleotide variant Joubert syndrome 21 [RCV003744130] Chr8:67179934 [GRCh38]
Chr8:68092169 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3126C>T (p.Ile1042=) single nucleotide variant Joubert syndrome 21 [RCV003744416] Chr8:67177696 [GRCh38]
Chr8:68089931 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3660C>A (p.Gly1220=) single nucleotide variant Joubert syndrome 21 [RCV003744474] Chr8:67195572 [GRCh38]
Chr8:68107807 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3470-20G>A single nucleotide variant Joubert syndrome 21 [RCV003745717] Chr8:67195362 [GRCh38]
Chr8:68107597 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.200-13del deletion Joubert syndrome 21 [RCV003876859] Chr8:67085994 [GRCh38]
Chr8:67998229 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.3454A>G (p.Lys1152Glu) single nucleotide variant Joubert syndrome 21 [RCV003583803] Chr8:67193587 [GRCh38]
Chr8:68105822 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3395T>C (p.Val1132Ala) single nucleotide variant Joubert syndrome 21 [RCV003745874] Chr8:67193528 [GRCh38]
Chr8:68105763 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2969-8T>A single nucleotide variant Joubert syndrome 21 [RCV003745782] Chr8:67175288 [GRCh38]
Chr8:68087523 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3221-10G>A single nucleotide variant Joubert syndrome 21 [RCV003744440] Chr8:67190640 [GRCh38]
Chr8:68102875 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3330+13C>T single nucleotide variant Joubert syndrome 21 [RCV003745785] Chr8:67190772 [GRCh38]
Chr8:68103007 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3135T>C (p.Ala1045=) single nucleotide variant Joubert syndrome 21 [RCV003583294] Chr8:67177705 [GRCh38]
Chr8:68089940 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1023-14C>T single nucleotide variant Joubert syndrome 21 [RCV003743148] Chr8:67105891 [GRCh38]
Chr8:68018126 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1698-12T>C single nucleotide variant Joubert syndrome 21 [RCV003743147] Chr8:67131939 [GRCh38]
Chr8:68044174 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2855T>C (p.Ile952Thr) single nucleotide variant Joubert syndrome 21 [RCV003745193] Chr8:67172442 [GRCh38]
Chr8:68084677 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.853G>T (p.Glu285Ter) single nucleotide variant Joubert syndrome 21 [RCV003743175] Chr8:67095662 [GRCh38]
Chr8:68007897 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.1288-12T>C single nucleotide variant Joubert syndrome 21 [RCV003745151] Chr8:67115902 [GRCh38]
Chr8:68028137 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.818A>G (p.Tyr273Cys) single nucleotide variant Joubert syndrome 21 [RCV003743372] Chr8:67095627 [GRCh38]
Chr8:68007862 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.252A>G (p.Lys84=) single nucleotide variant Joubert syndrome 21 [RCV003743470] Chr8:67086059 [GRCh38]
Chr8:67998294 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.549G>A (p.Gln183=) single nucleotide variant Joubert syndrome 21 [RCV003745758] Chr8:67095358 [GRCh38]
Chr8:68007593 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1188-20A>C single nucleotide variant Joubert syndrome 21 [RCV003583315] Chr8:67113785 [GRCh38]
Chr8:68026020 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2392-8T>C single nucleotide variant Joubert syndrome 21 [RCV003745846] Chr8:67158983 [GRCh38]
Chr8:68071218 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.385-12T>A single nucleotide variant Joubert syndrome 21 [RCV003583341] Chr8:67093531 [GRCh38]
Chr8:68005766 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.930C>T (p.His310=) single nucleotide variant Joubert syndrome 21 [RCV003852670] Chr8:67103043 [GRCh38]
Chr8:68015278 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2538+18A>G single nucleotide variant Joubert syndrome 21 [RCV003583331] Chr8:67159155 [GRCh38]
Chr8:68071390 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1698-4G>C single nucleotide variant Joubert syndrome 21 [RCV003745894] Chr8:67131947 [GRCh38]
Chr8:68044182 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.486C>A (p.Pro162=) single nucleotide variant Joubert syndrome 21 [RCV003744157] Chr8:67095295 [GRCh38]
Chr8:68007530 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2373A>G (p.Lys791=) single nucleotide variant Joubert syndrome 21 [RCV003744197] Chr8:67158578 [GRCh38]
Chr8:68070813 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1698-13_1698-12del microsatellite Joubert syndrome 21 [RCV003744301] Chr8:67131935..67131936 [GRCh38]
Chr8:68044170..68044171 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.468G>C (p.Val156=) single nucleotide variant Joubert syndrome 21 [RCV003744292] Chr8:67093626 [GRCh38]
Chr8:68005861 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.3470-16C>T single nucleotide variant Joubert syndrome 21 [RCV003832482] Chr8:67195366 [GRCh38]
Chr8:68107601 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2739A>G (p.Leu913=) single nucleotide variant Joubert syndrome 21 [RCV003744455] Chr8:67164419 [GRCh38]
Chr8:68076654 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2205del (p.Lys735fs) deletion Joubert syndrome 21 [RCV003745032] Chr8:67154098 [GRCh38]
Chr8:68066333 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.-74G>A single nucleotide variant Joubert syndrome 21 [RCV003743233] Chr8:67064475 [GRCh38]
Chr8:67976710 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1710A>G (p.Gly570=) single nucleotide variant Joubert syndrome 21 [RCV003745859] Chr8:67131963 [GRCh38]
Chr8:68044198 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1697+5_1697+16dup duplication Joubert syndrome 21 [RCV003743129] Chr8:67118822..67118823 [GRCh38]
Chr8:68031057..68031058 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.63A>C (p.Ala21=) single nucleotide variant Joubert syndrome 21 [RCV003744180] Chr8:67074315 [GRCh38]
Chr8:67986550 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2206C>T (p.Gln736Ter) single nucleotide variant Joubert syndrome 21 [RCV003743198] Chr8:67154101 [GRCh38]
Chr8:68066336 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.162C>T (p.Asn54=) single nucleotide variant Joubert syndrome 21 [RCV003583250] Chr8:67076544 [GRCh38]
Chr8:67988779 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2129-4C>G single nucleotide variant Joubert syndrome 21 [RCV003745881] Chr8:67154020 [GRCh38]
Chr8:68066255 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2539-8T>A single nucleotide variant Joubert syndrome 21 [RCV003583582] Chr8:67161803 [GRCh38]
Chr8:68074038 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.483+2T>A single nucleotide variant Joubert syndrome 21 [RCV003744165] Chr8:67093643 [GRCh38]
Chr8:68005878 [GRCh37]
Chr8:8q13.1		 likely pathogenic
NM_001382391.1(CSPP1):c.200-18_200-16del microsatellite Joubert syndrome 21 [RCV003583647] Chr8:67085986..67085988 [GRCh38]
Chr8:67998221..67998223 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.816G>A (p.Arg272=) single nucleotide variant Joubert syndrome 21 [RCV003583864] Chr8:67095625 [GRCh38]
Chr8:68007860 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2201T>A (p.Ile734Asn) single nucleotide variant Joubert syndrome 21 [RCV003745031] Chr8:67154096 [GRCh38]
Chr8:68066331 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.274C>A (p.Arg92=) single nucleotide variant Joubert syndrome 21 [RCV003583444] Chr8:67086081 [GRCh38]
Chr8:67998316 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2644-11T>C single nucleotide variant Joubert syndrome 21 [RCV003745118] Chr8:67163721 [GRCh38]
Chr8:68075956 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.750A>G (p.Ala250=) single nucleotide variant Joubert syndrome 21 [RCV003583492] Chr8:67095559 [GRCh38]
Chr8:68007794 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2282_2283del (p.Arg761fs) microsatellite Joubert syndrome 21 [RCV003583978] Chr8:67158481..67158482 [GRCh38]
Chr8:68070716..68070717 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.-10-20A>G single nucleotide variant Joubert syndrome 21 [RCV003815809] Chr8:67074223 [GRCh38]
Chr8:67986458 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2637T>C (p.Phe879=) single nucleotide variant Joubert syndrome 21 [RCV003583462] Chr8:67161909 [GRCh38]
Chr8:68074144 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2644-15A>C single nucleotide variant Joubert syndrome 21 [RCV003583809] Chr8:67163717 [GRCh38]
Chr8:68075952 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2711-13T>C single nucleotide variant Joubert syndrome 21 [RCV003745211] Chr8:67164378 [GRCh38]
Chr8:68076613 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2218T>C (p.Tyr740His) single nucleotide variant Joubert syndrome 21 [RCV003583595] Chr8:67154113 [GRCh38]
Chr8:68066348 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2643+11T>C single nucleotide variant Joubert syndrome 21 [RCV003583605] Chr8:67161926 [GRCh38]
Chr8:68074161 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2584del (p.Ile862fs) deletion Joubert syndrome 21 [RCV003743226] Chr8:67161853 [GRCh38]
Chr8:68074088 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.-43A>C single nucleotide variant Joubert syndrome 21 [RCV003744345] Chr8:67064506 [GRCh38]
Chr8:67976741 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2388G>A (p.Glu796=) single nucleotide variant Joubert syndrome 21 [RCV003744370] Chr8:67158593 [GRCh38]
Chr8:68070828 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1022+1G>C single nucleotide variant Joubert syndrome 21 [RCV003744422] Chr8:67103136 [GRCh38]
Chr8:68015371 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.2643+16T>A single nucleotide variant Joubert syndrome 21 [RCV003743396] Chr8:67161931 [GRCh38]
Chr8:68074166 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2829-8A>G single nucleotide variant Joubert syndrome 21 [RCV003743530] Chr8:67172408 [GRCh38]
Chr8:68084643 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1960A>G (p.Lys654Glu) single nucleotide variant Joubert syndrome 21 [RCV003745855] Chr8:67137588 [GRCh38]
Chr8:68049823 [GRCh37]
Chr8:8q13.2		 uncertain significance
NC_000008.10:g.(68018211_68024206)_(68108850_?)dup duplication not specified [RCV003994830] Chr8:68024206..68108850 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2580C>T (p.Asn860=) single nucleotide variant Joubert syndrome 21 [RCV003583378] Chr8:67161852 [GRCh38]
Chr8:68074087 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2943T>C (p.His981=) single nucleotide variant Joubert syndrome 21 [RCV003583409] Chr8:67172530 [GRCh38]
Chr8:68084765 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1749T>C (p.Asn583=) single nucleotide variant Joubert syndrome 21 [RCV003744296] Chr8:67132002 [GRCh38]
Chr8:68044237 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-10-13T>A single nucleotide variant Joubert syndrome 21 [RCV003583450] Chr8:67074230 [GRCh38]
Chr8:67986465 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2241+19A>C single nucleotide variant Joubert syndrome 21 [RCV003583709] Chr8:67154155 [GRCh38]
Chr8:68066390 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1187+7A>G single nucleotide variant Joubert syndrome 21 [RCV003583599] Chr8:67112072 [GRCh38]
Chr8:68024307 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2499C>T (p.His833=) single nucleotide variant Joubert syndrome 21 [RCV003743437] Chr8:67159098 [GRCh38]
Chr8:68071333 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1410C>T (p.Pro470=) single nucleotide variant Joubert syndrome 21 [RCV003583349] Chr8:67116036 [GRCh38]
Chr8:68028271 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2703T>C (p.Arg901=) single nucleotide variant Joubert syndrome 21 [RCV003745861] Chr8:67163791 [GRCh38]
Chr8:68076026 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1618+8A>G single nucleotide variant Joubert syndrome 21 [RCV003583522] Chr8:67118377 [GRCh38]
Chr8:68030612 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.768A>G (p.Pro256=) single nucleotide variant Joubert syndrome 21 [RCV003845529] Chr8:67095577 [GRCh38]
Chr8:68007812 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.741A>G (p.Gln247=) single nucleotide variant Joubert syndrome 21 [RCV003852943] Chr8:67095550 [GRCh38]
Chr8:68007785 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.100-12T>C single nucleotide variant Joubert syndrome 21 [RCV003745903] Chr8:67076470 [GRCh38]
Chr8:67988705 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2741C>G (p.Ser914Ter) single nucleotide variant Joubert syndrome 21 [RCV003868847] Chr8:67164421 [GRCh38]
Chr8:68076656 [GRCh37]
Chr8:8q13.2		 pathogenic
GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3 copy number gain not specified [RCV003986754] Chr8:27024288..89410121 [GRCh37]
Chr8:8p21.2-q21.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001382391.1(CSPP1):c.2263G>A (p.Glu755Lys) single nucleotide variant Joubert syndrome 21 [RCV003745980] Chr8:67158468 [GRCh38]
Chr8:68070703 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3222G>T (p.Gly1074=) single nucleotide variant Joubert syndrome 21 [RCV003848527] Chr8:67190651 [GRCh38]
Chr8:68102886 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-10-1G>T single nucleotide variant Joubert syndrome 21 [RCV003843482] Chr8:67074242 [GRCh38]
Chr8:67986477 [GRCh37]
Chr8:8q13.1		 likely pathogenic
NM_001382391.1(CSPP1):c.2538+20G>A single nucleotide variant Joubert syndrome 21 [RCV003745920] Chr8:67159157 [GRCh38]
Chr8:68071392 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.140dup (p.Ile48fs) duplication Joubert syndrome 21 [RCV003745930] Chr8:67076521..67076522 [GRCh38]
Chr8:67988756..67988757 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.2526G>A (p.Gly842=) single nucleotide variant Joubert syndrome 21 [RCV003870031] Chr8:67159125 [GRCh38]
Chr8:68071360 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2372_2376del (p.Lys791fs) microsatellite Joubert syndrome 21 [RCV003746007] Chr8:67158570..67158574 [GRCh38]
Chr8:68070805..68070809 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1704G>T (p.Thr568=) single nucleotide variant Joubert syndrome 21 [RCV003745988] Chr8:67131957 [GRCh38]
Chr8:68044192 [GRCh37]
Chr8:8q13.2		 likely benign
GRCh37/hg19 8q13.1-13.2(chr8:67848148-69198213)x1 copy number loss not specified [RCV003986764] Chr8:67848148..69198213 [GRCh37]
Chr8:8q13.1-13.2		 uncertain significance
NM_001382391.1(CSPP1):c.390G>T (p.Arg130Ser) single nucleotide variant Joubert syndrome 21 [RCV003841855] Chr8:67093548 [GRCh38]
Chr8:68005783 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.-10-4542C>T single nucleotide variant not provided [RCV003886890] Chr8:67069701 [GRCh38]
Chr8:67981936 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1769A>G (p.Asp590Gly) single nucleotide variant Inborn genetic diseases [RCV004372663] Chr8:67132022 [GRCh38]
Chr8:68044257 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2056G>A (p.Val686Ile) single nucleotide variant Inborn genetic diseases [RCV004372664] Chr8:67149863 [GRCh38]
Chr8:68062098 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2549A>G (p.Gln850Arg) single nucleotide variant Inborn genetic diseases [RCV004372665] Chr8:67161821 [GRCh38]
Chr8:68074056 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3172A>G (p.Ser1058Gly) single nucleotide variant Inborn genetic diseases [RCV004372666] Chr8:67179878 [GRCh38]
Chr8:68092113 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.337T>C (p.Ser113Pro) single nucleotide variant CSPP1-related disorder [RCV003909662] Chr8:67091836 [GRCh38]
Chr8:68004071 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1022+9T>C single nucleotide variant CSPP1-related disorder [RCV003899161] Chr8:67103144 [GRCh38]
Chr8:68015379 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.265G>A (p.Glu89Lys) single nucleotide variant CSPP1-related disorder [RCV004757916] Chr8:67086072 [GRCh38]
Chr8:67998307 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2079A>G (p.Leu693=) single nucleotide variant CSPP1-related disorder [RCV003944551] Chr8:67149886 [GRCh38]
Chr8:68062121 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.385-2A>G single nucleotide variant Joubert syndrome 21 [RCV004555776] Chr8:67093541 [GRCh38]
Chr8:68005776 [GRCh37]
Chr8:8q13.1		 likely pathogenic
NC_000008.10:g.(?_68024187)_(68031076_?)del deletion Joubert syndrome 21 [RCV004583294] Chr8:68024187..68031076 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.-126G>C single nucleotide variant Inborn genetic diseases [RCV004613734] Chr8:67064423 [GRCh38]
Chr8:67976658 [GRCh37]
Chr8:8q13.1		 uncertain significance
NC_000008.10:g.(?_68102865)_(68103014_?)dup duplication Joubert syndrome 21 [RCV004583295] Chr8:68102865..68103014 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NC_000008.10:g.(?_68061998)_(68089981_?)dup duplication Joubert syndrome 21 [RCV004583296] Chr8:68061998..68089981 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.43A>T (p.Arg15Ter) single nucleotide variant CSPP1-related disorder [RCV004757895]|Joubert syndrome 21 [RCV004796885] Chr8:67074295 [GRCh38]
Chr8:67986530 [GRCh37]
Chr8:8q13.1		 likely pathogenic|uncertain significance
NM_001382391.1(CSPP1):c.2612C>T (p.Ser871Leu) single nucleotide variant not provided [RCV004766226] Chr8:67161884 [GRCh38]
Chr8:68074119 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-10-4491T>G single nucleotide variant not provided [RCV004810384] Chr8:67069752 [GRCh38]
Chr8:67981987 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.3526G>A (p.Gly1176Arg) single nucleotide variant not provided [RCV004762848] Chr8:67195438 [GRCh38]
Chr8:68107673 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2516A>G (p.Asn839Ser) single nucleotide variant Retinal dystrophy [RCV004816169] Chr8:67159115 [GRCh38]
Chr8:68071350 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2146_2147del (p.Ser716fs) microsatellite Joubert syndrome 21 [RCV004799159] Chr8:67154039..67154040 [GRCh38]
Chr8:68066274..68066275 [GRCh37]
Chr8:8q13.2		 likely pathogenic
NM_001382391.1(CSPP1):c.2090A>G (p.Asn697Ser) single nucleotide variant CSPP1-related disorder [RCV004757878] Chr8:67149897 [GRCh38]
Chr8:68062132 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3145G>A (p.Glu1049Lys) single nucleotide variant not provided [RCV004727604] Chr8:67177715 [GRCh38]
Chr8:68089950 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2845C>T (p.Pro949Ser) single nucleotide variant Inborn genetic diseases [RCV004979268] Chr8:67172432 [GRCh38]
Chr8:68084667 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3221G>A (p.Gly1074Glu) single nucleotide variant Inborn genetic diseases [RCV004979270] Chr8:67190650 [GRCh38]
Chr8:68102885 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2996T>G (p.Phe999Cys) single nucleotide variant Inborn genetic diseases [RCV004979273] Chr8:67175323 [GRCh38]
Chr8:68087558 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.491G>A (p.Ser164Asn) single nucleotide variant Inborn genetic diseases [RCV004979275] Chr8:67095300 [GRCh38]
Chr8:68007535 [GRCh37]
Chr8:8q13.1		 likely benign
GRCh37/hg19 8q13.2(chr8:68100336-70143632)x1 copy number loss not provided [RCV004819359] Chr8:68100336..70143632 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.-9A>G single nucleotide variant Inborn genetic diseases [RCV004979265] Chr8:67074244 [GRCh38]
Chr8:67986479 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.110C>T (p.Ser37Leu) single nucleotide variant Inborn genetic diseases [RCV004979271] Chr8:67076492 [GRCh38]
Chr8:67988727 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.559G>A (p.Glu187Lys) single nucleotide variant Inborn genetic diseases [RCV004979272] Chr8:67095368 [GRCh38]
Chr8:68007603 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1324C>G (p.His442Asp) single nucleotide variant Inborn genetic diseases [RCV004979266] Chr8:67115950 [GRCh38]
Chr8:68028185 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.994A>T (p.Ile332Leu) single nucleotide variant Inborn genetic diseases [RCV004979267] Chr8:67103107 [GRCh38]
Chr8:68015342 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.605C>T (p.Ala202Val) single nucleotide variant Inborn genetic diseases [RCV004979269] Chr8:67095414 [GRCh38]
Chr8:68007649 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.2582A>G (p.Lys861Arg) single nucleotide variant Inborn genetic diseases [RCV004979274] Chr8:67161854 [GRCh38]
Chr8:68074089 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2704G>A (p.Ala902Thr) single nucleotide variant Inborn genetic diseases [RCV004979276] Chr8:67163792 [GRCh38]
Chr8:68076027 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.2969-14A>G single nucleotide variant Joubert syndrome 21 [RCV005140268] Chr8:67175282 [GRCh38]
Chr8:68087517 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1108G>T (p.Glu370Ter) single nucleotide variant Joubert syndrome 21 [RCV005196555] Chr8:67111986 [GRCh38]
Chr8:68024221 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1496+15G>A single nucleotide variant Joubert syndrome 21 [RCV005145627] Chr8:67116137 [GRCh38]
Chr8:68028372 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3331-15_3331-13dup duplication Joubert syndrome 21 [RCV005142806] Chr8:67193447..67193448 [GRCh38]
Chr8:68105682..68105683 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3067C>T (p.Gln1023Ter) single nucleotide variant Joubert syndrome 21 [RCV005186932] Chr8:67175394 [GRCh38]
Chr8:68087629 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3663G>A (p.Leu1221=) single nucleotide variant Joubert syndrome 21 [RCV005156091] Chr8:67195575 [GRCh38]
Chr8:68107810 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1869A>G (p.Glu623=) single nucleotide variant Joubert syndrome 21 [RCV005176087] Chr8:67137497 [GRCh38]
Chr8:68049732 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3396T>C (p.Val1132=) single nucleotide variant Joubert syndrome 21 [RCV005166640] Chr8:67193529 [GRCh38]
Chr8:68105764 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3221-17T>C single nucleotide variant Joubert syndrome 21 [RCV005173200] Chr8:67190633 [GRCh38]
Chr8:68102868 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1560T>A (p.Tyr520Ter) single nucleotide variant Joubert syndrome 21 [RCV005144971] Chr8:67118311 [GRCh38]
Chr8:68030546 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.1838G>A (p.Arg613Lys) single nucleotide variant Joubert syndrome 21 [RCV005067624] Chr8:67137466 [GRCh38]
Chr8:68049701 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.3636A>G (p.Lys1212=) single nucleotide variant Joubert syndrome 21 [RCV005082725] Chr8:67195548 [GRCh38]
Chr8:68107783 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1914T>C (p.Tyr638=) single nucleotide variant Joubert syndrome 21 [RCV005086744] Chr8:67137542 [GRCh38]
Chr8:68049777 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3221-4T>C single nucleotide variant Joubert syndrome 21 [RCV005148961] Chr8:67190646 [GRCh38]
Chr8:68102881 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2969-17C>T single nucleotide variant Joubert syndrome 21 [RCV005149566] Chr8:67175279 [GRCh38]
Chr8:68087514 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.385-11T>G single nucleotide variant Joubert syndrome 21 [RCV005195789] Chr8:67093532 [GRCh38]
Chr8:68005767 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.3666G>A (p.Ser1222=) single nucleotide variant Joubert syndrome 21 [RCV005182227] Chr8:67195578 [GRCh38]
Chr8:68107813 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3582G>A (p.Leu1194=) single nucleotide variant Joubert syndrome 21 [RCV005077827] Chr8:67195494 [GRCh38]
Chr8:68107729 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3470-19T>C single nucleotide variant Joubert syndrome 21 [RCV005089115] Chr8:67195363 [GRCh38]
Chr8:68107598 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2969-4C>T single nucleotide variant Joubert syndrome 21 [RCV005163921] Chr8:67175292 [GRCh38]
Chr8:68087527 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.3369T>C (p.Ser1123=) single nucleotide variant Joubert syndrome 21 [RCV005195004] Chr8:67193502 [GRCh38]
Chr8:68105737 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1093+12A>G single nucleotide variant Joubert syndrome 21 [RCV005159292] Chr8:67105987 [GRCh38]
Chr8:68018222 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2352T>C (p.Tyr784=) single nucleotide variant Joubert syndrome 21 [RCV005183817] Chr8:67158557 [GRCh38]
Chr8:68070792 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2968+18C>T single nucleotide variant Joubert syndrome 21 [RCV005135850] Chr8:67172573 [GRCh38]
Chr8:68084808 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-124T>C single nucleotide variant Joubert syndrome 21 [RCV005125487] Chr8:67064425 [GRCh38]
Chr8:67976660 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.271T>C (p.Leu91=) single nucleotide variant Joubert syndrome 21 [RCV005179602] Chr8:67086078 [GRCh38]
Chr8:67998313 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1022+15A>T single nucleotide variant Joubert syndrome 21 [RCV005130887] Chr8:67103150 [GRCh38]
Chr8:68015385 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1094-9A>G single nucleotide variant Joubert syndrome 21 [RCV005160503] Chr8:67111963 [GRCh38]
Chr8:68024198 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-70G>C single nucleotide variant Joubert syndrome 21 [RCV005176149] Chr8:67064479 [GRCh38]
Chr8:67976714 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.120T>G (p.Leu40=) single nucleotide variant Joubert syndrome 21 [RCV005176513] Chr8:67076502 [GRCh38]
Chr8:67988737 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.450del (p.Ser150fs) deletion Dandy-Walker malformation [RCV005241284] Chr8:67093608 [GRCh38]
Chr8:68005843 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.1697+12G>T single nucleotide variant Joubert syndrome 21 [RCV005181445] Chr8:67118833 [GRCh38]
Chr8:68031068 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.-112G>A single nucleotide variant Joubert syndrome 21 [RCV005143605] Chr8:67064437 [GRCh38]
Chr8:67976672 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.818dup (p.Tyr273Ter) duplication Inborn genetic diseases [RCV005315838]|Joubert syndrome 21 [RCV005187914] Chr8:67095626..67095627 [GRCh38]
Chr8:68007861..68007862 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.1055_1059del (p.Asn352fs) deletion Joubert syndrome 21 [RCV005205031] Chr8:67105936..67105940 [GRCh38]
Chr8:68018171..68018175 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2828+8T>G single nucleotide variant Joubert syndrome 21 [RCV005111111] Chr8:67164516 [GRCh38]
Chr8:68076751 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.495G>A (p.Gln165=) single nucleotide variant not provided [RCV005243072] Chr8:67095304 [GRCh38]
Chr8:68007539 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2560A>G (p.Ile854Val) single nucleotide variant Joubert syndrome 21 [RCV005167392] Chr8:67161832 [GRCh38]
Chr8:68074067 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1626A>G (p.Ser542=) single nucleotide variant Joubert syndrome 21 [RCV005140731] Chr8:67118750 [GRCh38]
Chr8:68030985 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1929del (p.Gly644fs) deletion Joubert syndrome 21 [RCV005135426] Chr8:67137554 [GRCh38]
Chr8:68049789 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.2711-17T>C single nucleotide variant Joubert syndrome 21 [RCV005080750] Chr8:67164374 [GRCh38]
Chr8:68076609 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2828+9A>C single nucleotide variant Joubert syndrome 21 [RCV005194676] Chr8:67164517 [GRCh38]
Chr8:68076752 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.229G>T (p.Gly77Ter) single nucleotide variant Joubert syndrome 21 [RCV005132016] Chr8:67086036 [GRCh38]
Chr8:67998271 [GRCh37]
Chr8:8q13.1		 pathogenic
NM_001382391.1(CSPP1):c.-39A>C single nucleotide variant Joubert syndrome 21 [RCV005074304] Chr8:67064510 [GRCh38]
Chr8:67976745 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.213A>T (p.Gly71=) single nucleotide variant Joubert syndrome 21 [RCV005157648] Chr8:67086020 [GRCh38]
Chr8:67998255 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1959A>C (p.Ala653=) single nucleotide variant Joubert syndrome 21 [RCV005207631] Chr8:67137587 [GRCh38]
Chr8:68049822 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1170A>G (p.Gln390=) single nucleotide variant Joubert syndrome 21 [RCV005078887] Chr8:67112048 [GRCh38]
Chr8:68024283 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1094-9A>C single nucleotide variant Joubert syndrome 21 [RCV005151582] Chr8:67111963 [GRCh38]
Chr8:68024198 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2968+14T>C single nucleotide variant Joubert syndrome 21 [RCV005182299] Chr8:67172569 [GRCh38]
Chr8:68084804 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2538+14A>G single nucleotide variant Joubert syndrome 21 [RCV005159817] Chr8:67159151 [GRCh38]
Chr8:68071386 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2607T>C (p.Pro869=) single nucleotide variant Joubert syndrome 21 [RCV005163920] Chr8:67161879 [GRCh38]
Chr8:68074114 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2257_2260del (p.Gln753fs) deletion Joubert syndrome 21 [RCV005083421] Chr8:67158459..67158462 [GRCh38]
Chr8:68070694..68070697 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.199+19T>G single nucleotide variant Joubert syndrome 21 [RCV005133194] Chr8:67076600 [GRCh38]
Chr8:67988835 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.438G>A (p.Lys146=) single nucleotide variant Joubert syndrome 21 [RCV005079729] Chr8:67093596 [GRCh38]
Chr8:68005831 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.-127C>G single nucleotide variant Joubert syndrome 21 [RCV005187932] Chr8:67064422 [GRCh38]
Chr8:67976657 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.200-18A>T single nucleotide variant Joubert syndrome 21 [RCV005166082] Chr8:67085989 [GRCh38]
Chr8:67998224 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.882T>C (p.Ser294=) single nucleotide variant Joubert syndrome 21 [RCV005122481] Chr8:67095691 [GRCh38]
Chr8:68007926 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.1022+7T>C single nucleotide variant Joubert syndrome 21 [RCV005124882] Chr8:67103142 [GRCh38]
Chr8:68015377 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.774A>G (p.Arg258=) single nucleotide variant Joubert syndrome 21 [RCV005070725] Chr8:67095583 [GRCh38]
Chr8:68007818 [GRCh37]
Chr8:8q13.1		 likely benign
NM_001382391.1(CSPP1):c.2241+18C>A single nucleotide variant Joubert syndrome 21 [RCV005071648] Chr8:67154154 [GRCh38]
Chr8:68066389 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2241+14T>G single nucleotide variant Joubert syndrome 21 [RCV005202298] Chr8:67154150 [GRCh38]
Chr8:68066385 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2826C>T (p.Ile942=) single nucleotide variant Joubert syndrome 21 [RCV005131024] Chr8:67164506 [GRCh38]
Chr8:68076741 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.2679A>G (p.Val893=) single nucleotide variant Joubert syndrome 21 [RCV005182052] Chr8:67163767 [GRCh38]
Chr8:68076002 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.1380C>G (p.Leu460=) single nucleotide variant Joubert syndrome 21 [RCV005197237] Chr8:67116006 [GRCh38]
Chr8:68028241 [GRCh37]
Chr8:8q13.2		 likely benign
NM_001382391.1(CSPP1):c.258A>C (p.Lys86Asn) single nucleotide variant Inborn genetic diseases [RCV005317364] Chr8:67086065 [GRCh38]
Chr8:67998300 [GRCh37]
Chr8:8q13.1		 uncertain significance
NM_001382391.1(CSPP1):c.1547A>G (p.Tyr516Cys) single nucleotide variant Inborn genetic diseases [RCV005317366] Chr8:67118298 [GRCh38]
Chr8:68030533 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.1827+1G>T single nucleotide variant not provided [RCV005251988] Chr8:67132081 [GRCh38]
Chr8:68044316 [GRCh37]
Chr8:8q13.2		 pathogenic
NM_001382391.1(CSPP1):c.3302G>A (p.Arg1101Lys) single nucleotide variant Inborn genetic diseases [RCV005317365] Chr8:67190731 [GRCh38]
Chr8:68102966 [GRCh37]
Chr8:8q13.2		 uncertain significance
NM_001382391.1(CSPP1):c.-71C>G single nucleotide variant Inborn genetic diseases [RCV005317363] Chr8:67064478 [GRCh38]
Chr8:67976713 [GRCh37]
Chr8:8q13.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1957
Count of miRNA genes:891
Interacting mature miRNAs:1064
Transcripts:ENST00000262210, ENST00000412460, ENST00000519163, ENST00000519668, ENST00000519701, ENST00000521168, ENST00000521324, ENST00000521919
Prediction methods: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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597063252GWAS1159326_Htonsillectomy risk measurement QTL GWAS1159326 (human)0.000005tonsillectomy risk measurement86710966967109670Human
1300005BP49_HBlood pressure QTL 49 (human)2.240.00066Blood pressuresystolic85317742079177420Human

Markers in Region
SHGC-37325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,108,061 - 68,108,187UniSTSGRCh37
Build 36868,270,615 - 68,270,741RGDNCBI36
Celera864,101,461 - 64,101,587RGD
Cytogenetic Map8q13.2UniSTS
HuRef863,599,990 - 63,600,116UniSTS
TNG Radiation Hybrid Map833810.0UniSTS
Stanford-G3 RH Map82740.0UniSTS
NCBI RH Map8836.1UniSTS
GeneMap99-G3 RH Map82830.0UniSTS
D8S1409E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,108,164 - 68,108,274UniSTSGRCh37
Build 36868,270,718 - 68,270,828RGDNCBI36
Celera864,101,564 - 64,101,674RGD
Cytogenetic Map8q13.2UniSTS
HuRef863,600,093 - 63,600,203UniSTS
SHGC-36348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,108,352 - 68,108,434UniSTSGRCh37
Build 36868,270,906 - 68,270,988RGDNCBI36
Celera864,101,752 - 64,101,834RGD
Cytogenetic Map8q13.2UniSTS
HuRef863,600,281 - 63,600,363UniSTS
GeneMap99-G3 RH Map82830.0UniSTS
RH11702  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,109,223 - 68,109,322UniSTSGRCh37
Build 36868,271,777 - 68,271,876RGDNCBI36
Celera864,102,623 - 64,102,722RGD
Cytogenetic Map8q13.2UniSTS
HuRef863,601,152 - 63,601,251UniSTS
GeneMap99-GB4 RH Map8361.6UniSTS
RH46944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37868,108,061 - 68,108,199UniSTSGRCh37
Build 36868,270,615 - 68,270,753RGDNCBI36
Celera864,101,461 - 64,101,599RGD
Cytogenetic Map8q13.2UniSTS
HuRef863,599,990 - 63,600,128UniSTS
GeneMap99-GB4 RH Map8358.28UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2252 4973 1726 2351 5 624 1950 465 2269 7302 6469 52 3734 1 852 1744 1616 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_034100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001291339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001363133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001364870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001438330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001438331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001438332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013855 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013856 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447281 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447284 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087359 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC109335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ583433 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AM156947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC022867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029445 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG698003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM555375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX649147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA447290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA177690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA245734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB030075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB046430 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DW426634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY040643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000262210   ⟹   ENSP00000262210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,340 - 67,196,263 (+)Ensembl
Ensembl Acc Id: ENST00000519163   ⟹   ENSP00000428694
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,428 - 67,159,036 (+)Ensembl
Ensembl Acc Id: ENST00000519668   ⟹   ENSP00000430092
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,083,848 - 67,195,611 (+)Ensembl
Ensembl Acc Id: ENST00000519701   ⟹   ENSP00000428793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,426 - 67,091,869 (+)Ensembl
Ensembl Acc Id: ENST00000521168
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,157,627 - 67,195,518 (+)Ensembl
Ensembl Acc Id: ENST00000521324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,154,024 - 67,196,194 (+)Ensembl
Ensembl Acc Id: ENST00000521919   ⟹   ENSP00000429546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,348 - 67,086,063 (+)Ensembl
Ensembl Acc Id: ENST00000674647
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,062,417 - 67,064,415 (+)Ensembl
Ensembl Acc Id: ENST00000674993   ⟹   ENSP00000502454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,368 - 67,195,593 (+)Ensembl
Ensembl Acc Id: ENST00000675306   ⟹   ENSP00000502421
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,316 - 67,196,246 (+)Ensembl
Ensembl Acc Id: ENST00000675820   ⟹   ENSP00000501959
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,362 - 67,139,334 (+)Ensembl
Ensembl Acc Id: ENST00000675869   ⟹   ENSP00000502747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,346 - 67,196,252 (+)Ensembl
Ensembl Acc Id: ENST00000675955   ⟹   ENSP00000501676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,378 - 67,196,030 (+)Ensembl
Ensembl Acc Id: ENST00000675990
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,154,877 - 67,196,582 (+)Ensembl
Ensembl Acc Id: ENST00000676113   ⟹   ENSP00000501645
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,062,426 - 67,196,025 (+)Ensembl
Ensembl Acc Id: ENST00000676317   ⟹   ENSP00000502047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,368 - 67,196,778 (+)Ensembl
Ensembl Acc Id: ENST00000676471   ⟹   ENSP00000503711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,362 - 67,196,263 (+)Ensembl
Ensembl Acc Id: ENST00000676534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,099,188 - 67,159,036 (+)Ensembl
Ensembl Acc Id: ENST00000676567   ⟹   ENSP00000503427
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,423 - 67,159,020 (+)Ensembl
Ensembl Acc Id: ENST00000676573   ⟹   ENSP00000504532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,368 - 67,196,214 (+)Ensembl
Ensembl Acc Id: ENST00000676605   ⟹   ENSP00000503605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,362 - 67,196,778 (+)Ensembl
Ensembl Acc Id: ENST00000676656
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,131,961 - 67,139,040 (+)Ensembl
Ensembl Acc Id: ENST00000676695   ⟹   ENSP00000503292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,093,543 - 67,159,137 (+)Ensembl
Ensembl Acc Id: ENST00000676697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,092,398 - 67,158,570 (+)Ensembl
Ensembl Acc Id: ENST00000676804   ⟹   ENSP00000504464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,131,951 - 67,196,194 (+)Ensembl
Ensembl Acc Id: ENST00000676847   ⟹   ENSP00000503336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,362 - 67,196,136 (+)Ensembl
Ensembl Acc Id: ENST00000676858   ⟹   ENSP00000502925
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,455 - 67,196,530 (+)Ensembl
Ensembl Acc Id: ENST00000676882   ⟹   ENSP00000504342
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,378 - 67,196,597 (+)Ensembl
Ensembl Acc Id: ENST00000676968   ⟹   ENSP00000504024
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,154,024 - 67,196,778 (+)Ensembl
Ensembl Acc Id: ENST00000676980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,172,865 - 67,196,220 (+)Ensembl
Ensembl Acc Id: ENST00000677009   ⟹   ENSP00000503297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,362 - 67,196,047 (+)Ensembl
Ensembl Acc Id: ENST00000677052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,110,651 - 67,196,258 (+)Ensembl
Ensembl Acc Id: ENST00000677070   ⟹   ENSP00000503014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,093,543 - 67,137,603 (+)Ensembl
Ensembl Acc Id: ENST00000677071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,391 - 67,086,331 (+)Ensembl
Ensembl Acc Id: ENST00000677131   ⟹   ENSP00000503937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,154,024 - 67,196,254 (+)Ensembl
Ensembl Acc Id: ENST00000677256   ⟹   ENSP00000504102
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,362 - 67,196,217 (+)Ensembl
Ensembl Acc Id: ENST00000677276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,083,915 - 67,093,603 (+)Ensembl
Ensembl Acc Id: ENST00000677430   ⟹   ENSP00000504177
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,388 - 67,195,989 (+)Ensembl
Ensembl Acc Id: ENST00000677455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,388 - 67,164,237 (+)Ensembl
Ensembl Acc Id: ENST00000677473   ⟹   ENSP00000503534
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,368 - 67,195,988 (+)Ensembl
Ensembl Acc Id: ENST00000677538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,172,206 - 67,196,593 (+)Ensembl
Ensembl Acc Id: ENST00000677592   ⟹   ENSP00000504516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,368 - 67,196,778 (+)Ensembl
Ensembl Acc Id: ENST00000677619   ⟹   ENSP00000504522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,362 - 67,196,778 (+)Ensembl
Ensembl Acc Id: ENST00000677697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,158,238 - 67,195,844 (+)Ensembl
Ensembl Acc Id: ENST00000677836   ⟹   ENSP00000504345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,093,543 - 67,137,603 (+)Ensembl
Ensembl Acc Id: ENST00000677845   ⟹   ENSP00000503524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,426 - 67,196,136 (+)Ensembl
Ensembl Acc Id: ENST00000677855   ⟹   ENSP00000504757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,093,543 - 67,196,552 (+)Ensembl
Ensembl Acc Id: ENST00000677938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,191,194 - 67,196,054 (+)Ensembl
Ensembl Acc Id: ENST00000677964   ⟹   ENSP00000504322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,154,024 - 67,196,778 (+)Ensembl
Ensembl Acc Id: ENST00000678017   ⟹   ENSP00000504394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,340 - 67,196,157 (+)Ensembl
Ensembl Acc Id: ENST00000678138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,101,240 - 67,159,023 (+)Ensembl
Ensembl Acc Id: ENST00000678156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,336 - 67,166,342 (+)Ensembl
Ensembl Acc Id: ENST00000678204   ⟹   ENSP00000504782
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,370 - 67,118,269 (+)Ensembl
Ensembl Acc Id: ENST00000678216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,093,525 - 67,137,474 (+)Ensembl
Ensembl Acc Id: ENST00000678318   ⟹   ENSP00000503690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,368 - 67,196,168 (+)Ensembl
Ensembl Acc Id: ENST00000678345   ⟹   ENSP00000503668
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,115,914 - 67,137,603 (+)Ensembl
Ensembl Acc Id: ENST00000678362   ⟹   ENSP00000504317
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,399 - 67,159,051 (+)Ensembl
Ensembl Acc Id: ENST00000678444   ⟹   ENSP00000503879
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,093,543 - 67,132,080 (+)Ensembl
Ensembl Acc Id: ENST00000678542   ⟹   ENSP00000503878
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,362 - 67,196,778 (+)Ensembl
Ensembl Acc Id: ENST00000678553   ⟹   ENSP00000503747
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,368 - 67,137,603 (+)Ensembl
Ensembl Acc Id: ENST00000678616   ⟹   ENSP00000504733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,392 - 67,196,614 (+)Ensembl
Ensembl Acc Id: ENST00000678635
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,131,045 - 67,196,162 (+)Ensembl
Ensembl Acc Id: ENST00000678645   ⟹   ENSP00000504031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,423 - 67,196,030 (+)Ensembl
Ensembl Acc Id: ENST00000678685
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,192,627 - 67,196,263 (+)Ensembl
Ensembl Acc Id: ENST00000678723   ⟹   ENSP00000503153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,154,024 - 67,196,254 (+)Ensembl
Ensembl Acc Id: ENST00000678728   ⟹   ENSP00000504830
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,378 - 67,137,603 (+)Ensembl
Ensembl Acc Id: ENST00000678744   ⟹   ENSP00000503495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,074,243 - 67,113,862 (+)Ensembl
Ensembl Acc Id: ENST00000678747   ⟹   ENSP00000503390
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,525 - 67,196,778 (+)Ensembl
Ensembl Acc Id: ENST00000678807
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,102,889 - 67,159,012 (+)Ensembl
Ensembl Acc Id: ENST00000678821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,072,940 - 67,121,093 (+)Ensembl
Ensembl Acc Id: ENST00000678834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,174,823 - 67,195,857 (+)Ensembl
Ensembl Acc Id: ENST00000678895   ⟹   ENSP00000504461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,154,024 - 67,196,778 (+)Ensembl
Ensembl Acc Id: ENST00000678927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,368 - 67,097,393 (+)Ensembl
Ensembl Acc Id: ENST00000679042
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,113,818 - 67,159,032 (+)Ensembl
Ensembl Acc Id: ENST00000679060
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,172,463 - 67,190,944 (+)Ensembl
Ensembl Acc Id: ENST00000679112   ⟹   ENSP00000503739
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,404 - 67,196,215 (+)Ensembl
Ensembl Acc Id: ENST00000679226   ⟹   ENSP00000503601
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,064,375 - 67,196,778 (+)Ensembl
Ensembl Acc Id: ENST00000679274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,113,652 - 67,196,263 (+)Ensembl
Ensembl Acc Id: ENST00000679295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,152,925 - 67,196,263 (+)Ensembl
Ensembl Acc Id: ENST00000679322
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl867,189,386 - 67,196,034 (+)Ensembl
RefSeq Acc Id: NM_001291339   ⟹   NP_001278268
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,083,848 - 67,196,614 (+)NCBI
CHM1_1868,051,396 - 68,164,861 (+)NCBI
T2T-CHM13v2.0867,510,313 - 67,623,074 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363131   ⟹   NP_001350060
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,392 - 67,196,614 (+)NCBI
T2T-CHM13v2.0867,490,858 - 67,623,074 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363132   ⟹   NP_001350061
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,392 - 67,196,614 (+)NCBI
T2T-CHM13v2.0867,490,858 - 67,623,074 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001363133   ⟹   NP_001350062
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,392 - 67,196,614 (+)NCBI
T2T-CHM13v2.0867,490,858 - 67,623,074 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364869   ⟹   NP_001351798
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,392 - 67,196,614 (+)NCBI
T2T-CHM13v2.0867,490,858 - 67,623,074 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001364870   ⟹   NP_001351799
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,392 - 67,196,614 (+)NCBI
T2T-CHM13v2.0867,490,858 - 67,623,074 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001382391   ⟹   NP_001369320
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,392 - 67,196,614 (+)NCBI
T2T-CHM13v2.0867,490,858 - 67,623,074 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024790   ⟹   NP_079066
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
GRCh37867,976,588 - 68,108,849 (+)NCBI
Build 36868,139,157 - 68,271,052 (+)NCBI Archive
Celera863,969,919 - 64,102,249 (+)RGD
HuRef863,469,182 - 63,600,778 (+)RGD
CHM1_1868,031,912 - 68,164,861 (+)NCBI
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005251305   ⟹   XP_005251362
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
GRCh37867,976,588 - 68,108,849 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716474   ⟹   XP_006716537
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716477   ⟹   XP_006716540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517598   ⟹   XP_011515900
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517599   ⟹   XP_011515901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517601   ⟹   XP_011515903
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517611   ⟹   XP_011515913
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,131,559 - 67,196,614 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013847   ⟹   XP_016869336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013849   ⟹   XP_016869338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017013854   ⟹   XP_016869343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047422244   ⟹   XP_047278200
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422245   ⟹   XP_047278201
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422246   ⟹   XP_047278202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422247   ⟹   XP_047278203
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,193,192 (+)NCBI
RefSeq Acc Id: XM_047422249   ⟹   XP_047278205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422250   ⟹   XP_047278206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,193,607 (+)NCBI
RefSeq Acc Id: XM_047422251   ⟹   XP_047278207
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,068,100 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422252   ⟹   XP_047278208
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422253   ⟹   XP_047278209
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422254   ⟹   XP_047278210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422255   ⟹   XP_047278211
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422256   ⟹   XP_047278212
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422257   ⟹   XP_047278213
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422258   ⟹   XP_047278214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,172,972 (+)NCBI
RefSeq Acc Id: XM_047422259   ⟹   XP_047278215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422260   ⟹   XP_047278216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422261   ⟹   XP_047278217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,368 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_047422262   ⟹   XP_047278218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,083,848 - 67,196,614 (+)NCBI
RefSeq Acc Id: XM_054361247   ⟹   XP_054217222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,488,908 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361248   ⟹   XP_054217223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361249   ⟹   XP_054217224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361250   ⟹   XP_054217225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,488,886 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361251   ⟹   XP_054217226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361252   ⟹   XP_054217227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,488,908 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361253   ⟹   XP_054217228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361254   ⟹   XP_054217229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,488,869 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361255   ⟹   XP_054217230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361256   ⟹   XP_054217231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361257   ⟹   XP_054217232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361258   ⟹   XP_054217233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361259   ⟹   XP_054217234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,619,652 (+)NCBI
RefSeq Acc Id: XM_054361260   ⟹   XP_054217235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,488,886 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361261   ⟹   XP_054217236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,620,013 (+)NCBI
RefSeq Acc Id: XM_054361262   ⟹   XP_054217237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,494,565 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361263   ⟹   XP_054217238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,488,881 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361264   ⟹   XP_054217239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361265   ⟹   XP_054217240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361266   ⟹   XP_054217241
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361267   ⟹   XP_054217242
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,488,869 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361268   ⟹   XP_054217243
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361269   ⟹   XP_054217244
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361270   ⟹   XP_054217245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361271   ⟹   XP_054217246
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,599,428 (+)NCBI
RefSeq Acc Id: XM_054361272   ⟹   XP_054217247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361273   ⟹   XP_054217248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361274   ⟹   XP_054217249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,490,834 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361275   ⟹   XP_054217250
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,510,313 - 67,623,074 (+)NCBI
RefSeq Acc Id: XM_054361276   ⟹   XP_054217251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0867,558,029 - 67,623,074 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001278268 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350060 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350061 (Get FASTA)   NCBI Sequence Viewer  
  NP_001350062 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351798 (Get FASTA)   NCBI Sequence Viewer  
  NP_001351799 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369320 (Get FASTA)   NCBI Sequence Viewer  
  NP_001425259 (Get FASTA)   NCBI Sequence Viewer  
  NP_001425260 (Get FASTA)   NCBI Sequence Viewer  
  NP_001425261 (Get FASTA)   NCBI Sequence Viewer  
  NP_079066 (Get FASTA)   NCBI Sequence Viewer  
  XP_005251362 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716537 (Get FASTA)   NCBI Sequence Viewer  
  XP_006716540 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515900 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515901 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515903 (Get FASTA)   NCBI Sequence Viewer  
  XP_011515913 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869336 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869338 (Get FASTA)   NCBI Sequence Viewer  
  XP_016869343 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278200 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278201 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278202 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278203 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278205 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278206 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278207 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278208 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278209 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278210 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278211 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278212 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278213 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278214 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278215 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278216 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278217 (Get FASTA)   NCBI Sequence Viewer  
  XP_047278218 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217222 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217223 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217224 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217225 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217226 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217227 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217228 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217229 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217230 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217231 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217232 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217233 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217234 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217235 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217236 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217237 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217238 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217239 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217240 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217241 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217242 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217243 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217244 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217245 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217246 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217247 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217248 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217249 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217250 (Get FASTA)   NCBI Sequence Viewer  
  XP_054217251 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH22867 (Get FASTA)   NCBI Sequence Viewer  
  BAB15375 (Get FASTA)   NCBI Sequence Viewer  
  CAE47426 (Get FASTA)   NCBI Sequence Viewer  
  CAJ42307 (Get FASTA)   NCBI Sequence Viewer  
  EAW86932 (Get FASTA)   NCBI Sequence Viewer  
  EAW86933 (Get FASTA)   NCBI Sequence Viewer  
  EAW86934 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000262210
  ENSP00000430092
  ENSP00000430092.1
  ENSP00000501676
  ENSP00000502047
  ENSP00000502047.1
  ENSP00000502421
  ENSP00000502454
  ENSP00000502454.1
  ENSP00000502747
  ENSP00000503297
  ENSP00000503690
  ENSP00000503711
  ENSP00000503878
  ENSP00000504342
  ENSP00000504516
  ENSP00000504522
  ENSP00000504532
  ENSP00000504733
GenBank Protein Q1MSJ5 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_079066   ⟸   NM_024790
- Peptide Label: isoform 1
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005251362   ⟸   XM_005251305
- Peptide Label: isoform X3
- UniProtKB: Q70F00 (UniProtKB/Swiss-Prot),   Q1MSJ5 (UniProtKB/Swiss-Prot),   A6ND63 (UniProtKB/Swiss-Prot),   Q8TBC1 (UniProtKB/Swiss-Prot),   A0A7I2V372 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716540   ⟸   XM_006716477
- Peptide Label: isoform X21
- UniProtKB: A0A7I2V3F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716537   ⟸   XM_006716474
- Peptide Label: isoform X9
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001278268   ⟸   NM_001291339
- Peptide Label: isoform 2
- UniProtKB: A0A7I2V5P5 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515900   ⟸   XM_011517598
- Peptide Label: isoform X1
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515901   ⟸   XM_011517599
- Peptide Label: isoform X2
- UniProtKB: A0A7I2V4R5 (UniProtKB/TrEMBL),   A0A7I2V372 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515903   ⟸   XM_011517601
- Peptide Label: isoform X5
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011515913   ⟸   XM_011517611
- Peptide Label: isoform X28
- Sequence:
RefSeq Acc Id: XP_016869336   ⟸   XM_017013847
- Peptide Label: isoform X6
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869343   ⟸   XM_017013854
- Peptide Label: isoform X22
- UniProtKB: A0A7I2YQH9 (UniProtKB/TrEMBL),   A0A7I2V3F0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016869338   ⟸   XM_017013849
- Peptide Label: isoform X10
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001350061   ⟸   NM_001363132
- Peptide Label: isoform 4
- UniProtKB: A0A6Q8PHN8 (UniProtKB/TrEMBL),   A0A6Q8PF61 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350060   ⟸   NM_001363131
- Peptide Label: isoform 3
- UniProtKB: A0A6Q8PF96 (UniProtKB/TrEMBL),   A0A7I2V4L2 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001350062   ⟸   NM_001363133
- Peptide Label: isoform 5
- UniProtKB: A0A6Q8PGS3 (UniProtKB/TrEMBL),   A0A7I2V3M9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001351798   ⟸   NM_001364869
- Peptide Label: isoform 6
- UniProtKB: A0A7I2PHE7 (UniProtKB/TrEMBL),   A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001351799   ⟸   NM_001364870
- Peptide Label: isoform 7
- UniProtKB: A0A7I2V5L8 (UniProtKB/TrEMBL),   A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369320   ⟸   NM_001382391
- Peptide Label: isoform 8
- UniProtKB: A0A7I2V5W3 (UniProtKB/TrEMBL),   A0A6Q8PF61 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000428694   ⟸   ENST00000519163
Ensembl Acc Id: ENSP00000430092   ⟸   ENST00000519668
Ensembl Acc Id: ENSP00000428793   ⟸   ENST00000519701
Ensembl Acc Id: ENSP00000429546   ⟸   ENST00000521919
Ensembl Acc Id: ENSP00000262210   ⟸   ENST00000262210
Ensembl Acc Id: ENSP00000502454   ⟸   ENST00000674993
Ensembl Acc Id: ENSP00000501959   ⟸   ENST00000675820
Ensembl Acc Id: ENSP00000501676   ⟸   ENST00000675955
Ensembl Acc Id: ENSP00000502747   ⟸   ENST00000675869
Ensembl Acc Id: ENSP00000502421   ⟸   ENST00000675306
Ensembl Acc Id: ENSP00000501645   ⟸   ENST00000676113
Ensembl Acc Id: ENSP00000502047   ⟸   ENST00000676317
Ensembl Acc Id: ENSP00000504024   ⟸   ENST00000676968
Ensembl Acc Id: ENSP00000504342   ⟸   ENST00000676882
Ensembl Acc Id: ENSP00000503336   ⟸   ENST00000676847
Ensembl Acc Id: ENSP00000502925   ⟸   ENST00000676858
Ensembl Acc Id: ENSP00000504464   ⟸   ENST00000676804
Ensembl Acc Id: ENSP00000503605   ⟸   ENST00000676605
Ensembl Acc Id: ENSP00000503292   ⟸   ENST00000676695
Ensembl Acc Id: ENSP00000503427   ⟸   ENST00000676567
Ensembl Acc Id: ENSP00000504532   ⟸   ENST00000676573
Ensembl Acc Id: ENSP00000503711   ⟸   ENST00000676471
Ensembl Acc Id: ENSP00000503937   ⟸   ENST00000677131
Ensembl Acc Id: ENSP00000503014   ⟸   ENST00000677070
Ensembl Acc Id: ENSP00000503297   ⟸   ENST00000677009
Ensembl Acc Id: ENSP00000504516   ⟸   ENST00000677592
Ensembl Acc Id: ENSP00000503534   ⟸   ENST00000677473
Ensembl Acc Id: ENSP00000504177   ⟸   ENST00000677430
Ensembl Acc Id: ENSP00000504102   ⟸   ENST00000677256
Ensembl Acc Id: ENSP00000504322   ⟸   ENST00000677964
Ensembl Acc Id: ENSP00000504757   ⟸   ENST00000677855
Ensembl Acc Id: ENSP00000503524   ⟸   ENST00000677845
Ensembl Acc Id: ENSP00000504345   ⟸   ENST00000677836
Ensembl Acc Id: ENSP00000504522   ⟸   ENST00000677619
Ensembl Acc Id: ENSP00000504394   ⟸   ENST00000678017
Ensembl Acc Id: ENSP00000503879   ⟸   ENST00000678444
Ensembl Acc Id: ENSP00000503668   ⟸   ENST00000678345
Ensembl Acc Id: ENSP00000504317   ⟸   ENST00000678362
Ensembl Acc Id: ENSP00000503690   ⟸   ENST00000678318
Ensembl Acc Id: ENSP00000504782   ⟸   ENST00000678204
Ensembl Acc Id: ENSP00000504461   ⟸   ENST00000678895
Ensembl Acc Id: ENSP00000503153   ⟸   ENST00000678723
Ensembl Acc Id: ENSP00000504830   ⟸   ENST00000678728
Ensembl Acc Id: ENSP00000503495   ⟸   ENST00000678744
Ensembl Acc Id: ENSP00000503390   ⟸   ENST00000678747
Ensembl Acc Id: ENSP00000504733   ⟸   ENST00000678616
Ensembl Acc Id: ENSP00000504031   ⟸   ENST00000678645
Ensembl Acc Id: ENSP00000503878   ⟸   ENST00000678542
Ensembl Acc Id: ENSP00000503747   ⟸   ENST00000678553
Ensembl Acc Id: ENSP00000503601   ⟸   ENST00000679226
Ensembl Acc Id: ENSP00000503739   ⟸   ENST00000679112
RefSeq Acc Id: XP_047278209   ⟸   XM_047422253
- Peptide Label: isoform X16
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278201   ⟸   XM_047422245
- Peptide Label: isoform X7
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278213   ⟸   XM_047422257
- Peptide Label: isoform X20
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278210   ⟸   XM_047422254
- Peptide Label: isoform X17
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278200   ⟸   XM_047422244
- Peptide Label: isoform X4
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278205   ⟸   XM_047422249
- Peptide Label: isoform X12
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278202   ⟸   XM_047422246
- Peptide Label: isoform X8
- UniProtKB: A0A7I2V5N5 (UniProtKB/TrEMBL),   A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278216   ⟸   XM_047422260
- Peptide Label: isoform X25
- UniProtKB: A0A7I2V3F0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278212   ⟸   XM_047422256
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047278208   ⟸   XM_047422252
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047278211   ⟸   XM_047422255
- Peptide Label: isoform X18
- UniProtKB: A0A7I2V3Z9 (UniProtKB/TrEMBL),   A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278215   ⟸   XM_047422259
- Peptide Label: isoform X24
- UniProtKB: A0A7I2V5G7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278217   ⟸   XM_047422261
- Peptide Label: isoform X26
RefSeq Acc Id: XP_047278206   ⟸   XM_047422250
- Peptide Label: isoform X13
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278203   ⟸   XM_047422247
- Peptide Label: isoform X11
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278214   ⟸   XM_047422258
- Peptide Label: isoform X23
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278207   ⟸   XM_047422251
- Peptide Label: isoform X14
- UniProtKB: A0A6Q8PF61 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047278218   ⟸   XM_047422262
- Peptide Label: isoform X27
- UniProtKB: A0A7I2V5P5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217229   ⟸   XM_054361254
- Peptide Label: isoform X32
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217242   ⟸   XM_054361267
- Peptide Label: isoform X35
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217238   ⟸   XM_054361263
- Peptide Label: isoform X34
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217225   ⟸   XM_054361250
- Peptide Label: isoform X30
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217235   ⟸   XM_054361260
- Peptide Label: isoform X33
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217222   ⟸   XM_054361247
- Peptide Label: isoform X29
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217227   ⟸   XM_054361252
- Peptide Label: isoform X31
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217239   ⟸   XM_054361264
- Peptide Label: isoform X16
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217230   ⟸   XM_054361255
- Peptide Label: isoform X7
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217243   ⟸   XM_054361268
- Peptide Label: isoform X20
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217224   ⟸   XM_054361249
- Peptide Label: isoform X3
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217240   ⟸   XM_054361265
- Peptide Label: isoform X17
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217232   ⟸   XM_054361257
- Peptide Label: isoform X9
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217226   ⟸   XM_054361251
- Peptide Label: isoform X4
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217228   ⟸   XM_054361253
- Peptide Label: isoform X6
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217244   ⟸   XM_054361269
- Peptide Label: isoform X21
- UniProtKB: A0A7I2V3F0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217223   ⟸   XM_054361248
- Peptide Label: isoform X2
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217231   ⟸   XM_054361256
- Peptide Label: isoform X8
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217245   ⟸   XM_054361270
- Peptide Label: isoform X22
- UniProtKB: A0A7I2V3F0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217248   ⟸   XM_054361273
- Peptide Label: isoform X25
- UniProtKB: A0A7I2V3F0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217233   ⟸   XM_054361258
- Peptide Label: isoform X10
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217241   ⟸   XM_054361266
- Peptide Label: isoform X18
- UniProtKB: A0A7I2V372 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217247   ⟸   XM_054361272
- Peptide Label: isoform X24
- UniProtKB: A0A7I2V5G7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217249   ⟸   XM_054361274
- Peptide Label: isoform X26
RefSeq Acc Id: XP_054217236   ⟸   XM_054361261
- Peptide Label: isoform X13
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217234   ⟸   XM_054361259
- Peptide Label: isoform X11
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217246   ⟸   XM_054361271
- Peptide Label: isoform X23
- UniProtKB: A0A7I2V398 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217237   ⟸   XM_054361262
- Peptide Label: isoform X14
- UniProtKB: A0A6Q8PF61 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217250   ⟸   XM_054361275
- Peptide Label: isoform X27
- UniProtKB: A0A7I2V5P5 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054217251   ⟸   XM_054361276
- Peptide Label: isoform X28

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q1MSJ5-F1-model_v2 AlphaFold Q1MSJ5 1-1256 view protein structure

Promoters
RGD ID:7213455
Promoter ID:EPDNEW_H12473
Type:initiation region
Name:CSPP1_2
Description:centrosome and spindle pole associated protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12474  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,062,426 - 67,062,486EPDNEW
RGD ID:7213457
Promoter ID:EPDNEW_H12474
Type:initiation region
Name:CSPP1_1
Description:centrosome and spindle pole associated protein 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12473  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38867,064,392 - 67,064,452EPDNEW
RGD ID:6806579
Promoter ID:HG_KWN:61437
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:ENST00000389042,   NM_001077204,   NM_024790,   UC003XXG.1,   UC003XXH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36868,138,371 - 68,139,222 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:26193 AgrOrtholog
COSMIC CSPP1 COSMIC
Ensembl Genes ENSG00000104218 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000262210 ENTREZGENE
  ENST00000519668 ENTREZGENE
  ENST00000519668.1 UniProtKB/Swiss-Prot
  ENST00000674993 ENTREZGENE
  ENST00000674993.1 UniProtKB/Swiss-Prot
  ENST00000675306 ENTREZGENE
  ENST00000675869 ENTREZGENE
  ENST00000675955 ENTREZGENE
  ENST00000676317 ENTREZGENE
  ENST00000676317.1 UniProtKB/Swiss-Prot
  ENST00000676471 ENTREZGENE
  ENST00000676573 ENTREZGENE
  ENST00000676882 ENTREZGENE
  ENST00000677009 ENTREZGENE
  ENST00000677592 ENTREZGENE
  ENST00000677619 ENTREZGENE
  ENST00000678318 ENTREZGENE
  ENST00000678542 ENTREZGENE
  ENST00000678616 ENTREZGENE
GTEx ENSG00000104218 GTEx
HGNC ID HGNC:26193 ENTREZGENE
Human Proteome Map CSPP1 Human Proteome Map
InterPro CSPP1 UniProtKB/Swiss-Prot
KEGG Report hsa:79848 UniProtKB/Swiss-Prot
NCBI Gene 79848 ENTREZGENE
OMIM 611654 OMIM
PANTHER CENTROSOME AND SPINDLE POLE-ASSOCIATED PROTEIN 1 UniProtKB/Swiss-Prot
  PTHR21616 UniProtKB/Swiss-Prot
Pfam CSPP1_C UniProtKB/Swiss-Prot
PharmGKB PA142672066 PharmGKB
UniProt A0A6Q8PF61 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PF96 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PGI0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PGS3 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PHN8 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2PHE7 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V2I3_HUMAN UniProtKB/TrEMBL
  A0A7I2V2P7_HUMAN UniProtKB/TrEMBL
  A0A7I2V2X5_HUMAN UniProtKB/TrEMBL
  A0A7I2V372 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V398 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V3F0 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V3F6_HUMAN UniProtKB/TrEMBL
  A0A7I2V3G6_HUMAN UniProtKB/TrEMBL
  A0A7I2V3M9 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V3Q0_HUMAN UniProtKB/TrEMBL
  A0A7I2V3V5_HUMAN UniProtKB/TrEMBL
  A0A7I2V3W2_HUMAN UniProtKB/TrEMBL
  A0A7I2V3Z9 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V425_HUMAN UniProtKB/TrEMBL
  A0A7I2V450_HUMAN UniProtKB/TrEMBL
  A0A7I2V4C3_HUMAN UniProtKB/TrEMBL
  A0A7I2V4I1_HUMAN UniProtKB/TrEMBL
  A0A7I2V4L2 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V4M7_HUMAN UniProtKB/TrEMBL
  A0A7I2V4R5 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V4U4_HUMAN UniProtKB/TrEMBL
  A0A7I2V519_HUMAN UniProtKB/TrEMBL
  A0A7I2V571_HUMAN UniProtKB/TrEMBL
  A0A7I2V5A7_HUMAN UniProtKB/TrEMBL
  A0A7I2V5F2_HUMAN UniProtKB/TrEMBL
  A0A7I2V5G7 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V5J7_HUMAN UniProtKB/TrEMBL
  A0A7I2V5J9 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V5L8 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V5N5 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V5P5 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V5U6_HUMAN UniProtKB/TrEMBL
  A0A7I2V5W3 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2V5Y8_HUMAN UniProtKB/TrEMBL
  A0A7I2V6B7_HUMAN UniProtKB/TrEMBL
  A0A7I2YQE8_HUMAN UniProtKB/TrEMBL
  A0A7I2YQH9 ENTREZGENE, UniProtKB/TrEMBL
  A0A7I2YQX1_HUMAN UniProtKB/TrEMBL
  A6ND63 ENTREZGENE
  CSPP1_HUMAN UniProtKB/Swiss-Prot
  E5RGA5_HUMAN UniProtKB/TrEMBL
  E5RI67_HUMAN UniProtKB/TrEMBL
  F2Z2M5_HUMAN UniProtKB/TrEMBL
  Q1MSJ5 ENTREZGENE
  Q70F00 ENTREZGENE
  Q8TBC1 ENTREZGENE
  Q9H688_HUMAN UniProtKB/TrEMBL
UniProt Secondary A6ND63 UniProtKB/Swiss-Prot
  Q70F00 UniProtKB/Swiss-Prot
  Q8TBC1 UniProtKB/Swiss-Prot