TMEM67 (transmembrane protein 67) - Rat Genome Database

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Gene: TMEM67 (transmembrane protein 67) Homo sapiens
Analyze
Symbol: TMEM67
Name: transmembrane protein 67
RGD ID: 1606753
HGNC Page HGNC
Description: Enables filamin binding activity and unfolded protein binding activity. Involved in cilium assembly; negative regulation of centrosome duplication; and ubiquitin-dependent ERAD pathway. Located in several cellular components, including centrosome; ciliary membrane; and ciliary transition zone. Implicated in Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis 11.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: JBTS6; meckel syndrome type 3 protein; Meckel syndrome, type 3; meckelin; MGC26979; MKS3; NPHP11; TNEM67
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl893,754,844 - 93,819,234 (+)EnsemblGRCh38hg38GRCh38
GRCh38893,754,844 - 93,832,653 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37894,767,072 - 94,831,466 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,836,321 - 94,898,323 (+)NCBINCBI36hg18NCBI36
Celera890,953,124 - 91,017,521 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef889,974,594 - 90,039,048 (+)NCBIHuRef
CHM1_1894,807,348 - 94,871,742 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal abdomen morphology  (IAGP)
Abnormal chorioretinal morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Absent speech  (IAGP)
Accessory spleen  (IAGP)
Aganglionic megacolon  (IAGP)
Agenesis of cerebellar vermis  (IAGP)
Anemia  (IAGP)
Anencephaly  (IAGP)
Anisocoria  (IAGP)
Anophthalmia  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the cerebellar vermis  (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)
Barrel-shaped chest  (IAGP)
Bile duct proliferation  (IAGP)
Biparietal narrowing  (IAGP)
Blindness  (IAGP)
Bowing of the long bones  (IAGP)
Brachydactyly  (IAGP)
Breathing dysregulation  (IAGP)
Cataract  (IAGP)
Cerebellar malformation  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Chorioretinal coloboma  (IAGP)
Chronic hepatic failure  (IAGP)
Chronic kidney disease  (IAGP)
Cirrhosis  (IAGP)
Cleft palate  (IAGP)
Coloboma  (IAGP)
Conductive hearing impairment  (IAGP)
Congenital hepatic fibrosis  (IAGP)
Cryptorchidism  (IAGP)
Cystic liver disease  (IAGP)
Cystic renal dysplasia  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased response to growth hormone stimuation test  (IAGP)
Deeply set eye  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal ridge  (IAGP)
Dystonia  (IAGP)
Elevated hepatic transaminase  (IAGP)
Elongated superior cerebellar peduncle  (IAGP)
Encephalocele  (IAGP)
Enlarged fossa interpeduncularis  (IAGP)
Episodic tachypnea  (IAGP)
Esophageal varix  (IAGP)
Exotropia  (IAGP)
Feeding difficulties in infancy  (IAGP)
Foot polydactyly  (IAGP)
Full cheeks  (IAGP)
Furrowed tongue  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
Growth delay  (IAGP)
Hand polydactyly  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatomegaly  (IAGP)
Heterogeneous  (IAGP)
Highly arched eyebrow  (IAGP)
Hydrocephalus  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypotonia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Inguinal hernia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, moderate  (IAGP)
Intellectual disability, severe  (IAGP)
Intrahepatic bile duct dilatation  (IAGP)
Intrahepatic biliary atresia  (IAGP)
Iris coloboma  (IAGP)
Lobar holoprosencephaly  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Low-set, posteriorly rotated ears  (IAGP)
Macrocephaly  (IAGP)
Male pseudohermaphroditism  (IAGP)
Malformation of the hepatic ductal plate  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Microphthalmia  (IAGP)
Molar tooth sign on MRI  (IAGP)
Multicystic kidney dysplasia  (IAGP)
Multiple small medullary renal cysts  (IAGP)
Neoplasm of the liver  (IAGP)
Nephronophthisis  (IAGP)
Nephropathy  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Occipital encephalocele  (IAGP)
Oculomotor apraxia  (IAGP)
Oligohydramnios  (IAGP)
Optic atrophy  (IAGP)
Optic disc coloboma  (IAGP)
Optic disc pallor  (IAGP)
Oral cleft  (IAGP)
Osteopenia  (IAGP)
Pancreatic cysts  (IAGP)
Pancreatic fibrosis  (IAGP)
Pancreatitis  (IAGP)
Peritonitis  (IAGP)
Pituitary hypothyroidism  (IAGP)
Polydipsia  (IAGP)
Polymicrogyria  (IAGP)
Polyuria  (IAGP)
Portal hypertension  (IAGP)
Postaxial foot polydactyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Preaxial hand polydactyly  (IAGP)
Prominent nasal bridge  (IAGP)
Ptosis  (IAGP)
Radial bowing  (IAGP)
Renal corticomedullary cysts  (IAGP)
Renal cyst  (IAGP)
Renal insufficiency  (IAGP)
Renal tubular atrophy  (IAGP)
Retinal degeneration  (IAGP)
Rod-cone dystrophy  (IAGP)
Round face  (IAGP)
Sclerocornea  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Short femoral neck  (IAGP)
Short stature  (IAGP)
Situs inversus totalis  (IAGP)
Skeletal dysplasia  (IAGP)
Sloping forehead  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Strabismus  (IAGP)
Talipes  (IAGP)
Thickened calvaria  (IAGP)
Thickened superior cerebellar peduncle  (IAGP)
Tremor  (IAGP)
True hermaphroditism  (IAGP)
Tubular basement membrane disintegration  (IAGP)
Unilateral renal agenesis  (IAGP)
Ureteral duplication  (IAGP)
Urethral atresia  (IAGP)
Vascular dilatation  (IAGP)
Visual impairment  (IAGP)
Wide mouth  (IAGP)
References

References - curated
1. Baala L, etal., Am J Hum Genet. 2007 Jan;80(1):186-94. Epub 2006 Nov 15.
2. Brancati F, etal., Hum Mutat. 2009 Feb;30(2):E432-42. doi: 10.1002/humu.20924.
3. Consugar MB, etal., Hum Genet. 2007 Jun;121(5):591-9. Epub 2007 Mar 22.
4. Cook SA, etal., J Am Soc Nephrol. 2009 Apr;20(4):753-64. doi: 10.1681/ASN.2008040412. Epub 2009 Feb 11.
5. Doherty D, etal., J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1.
6. Gattone VH, etal., Anat Rec A Discov Mol Cell Evol Biol. 2004 Apr;277(2):384-95. doi: 10.1002/ar.a.20022.
7. Khaddour R, etal., Hum Mutat. 2007 May;28(5):523-4.
8. Leitch CC, etal., Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9.
9. Nauta J, etal., J Am Soc Nephrol 2000 Dec;11(12):2272-84.
10. OMIM Disease Annotation Pipeline
11. Otto EA, etal., J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8.
12. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. RGD automated import pipeline for gene-chemical interactions
14. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Seeman T, etal., Pediatr Nephrol. 2010 Nov;25(11):2375-6. doi: 10.1007/s00467-010-1591-1. Epub 2010 Jul 6.
16. Shim JW, etal., Sci Rep. 2019 Jan 31;9(1):1069. doi: 10.1038/s41598-018-37620-5.
17. Smith UM, etal., Nat Genet. 2006 Feb;38(2):191-6. Epub 2006 Jan 15.
18. Szymanska K, etal., Cilia. 2012 Oct 1;1(1):18. doi: 10.1186/2046-2530-1-18.
19. Zhang M, etal., Int J Clin Exp Pathol. 2015 May 1;8(5):5379-86. eCollection 2015.
Additional References at PubMed
PMID:12384791   PMID:12477932   PMID:14702039   PMID:15489334   PMID:16344560   PMID:17185389   PMID:19515853   PMID:19596800   PMID:19815549   PMID:20232449   PMID:20301500   PMID:20301537  
PMID:20301552   PMID:20301743   PMID:21068128   PMID:21873635   PMID:22121117   PMID:23393159   PMID:26186194   PMID:26595381   PMID:26638075   PMID:26871637   PMID:27336129   PMID:27434533  
PMID:28161324   PMID:28514442   PMID:28719906   PMID:28860541   PMID:29146704   PMID:29891882   PMID:32000717   PMID:32156598   PMID:32814053   PMID:34079125  


Genomics

Comparative Map Data
TMEM67
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl893,754,844 - 93,819,234 (+)EnsemblGRCh38hg38GRCh38
GRCh38893,754,844 - 93,832,653 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37894,767,072 - 94,831,466 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,836,321 - 94,898,323 (+)NCBINCBI36hg18NCBI36
Celera890,953,124 - 91,017,521 (+)NCBI
Cytogenetic Map8q22.1NCBI
HuRef889,974,594 - 90,039,048 (+)NCBIHuRef
CHM1_1894,807,348 - 94,871,742 (+)NCBICHM1_1
Tmem67
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39412,039,355 - 12,090,020 (-)NCBIGRCm39mm39
GRCm39 Ensembl412,039,355 - 12,090,020 (-)Ensembl
GRCm38412,039,355 - 12,090,020 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl412,039,355 - 12,090,020 (-)EnsemblGRCm38mm10GRCm38
MGSCv37411,966,502 - 12,015,104 (-)NCBIGRCm37mm9NCBIm37
MGSCv36411,966,792 - 12,015,104 (-)NCBImm8
Celera411,852,088 - 11,951,004 (-)NCBICelera
Cytogenetic Map4A1NCBI
Tmem67
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2525,536,458 - 25,589,378 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl525,536,458 - 25,589,334 (-)Ensembl
Rnor_6.0525,666,138 - 25,721,056 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl525,666,137 - 25,721,072 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0530,371,964 - 30,424,943 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4526,324,625 - 26,377,531 (-)NCBIRGSC3.4rn4RGSC3.4
Celera524,866,083 - 24,918,920 (-)NCBICelera
Cytogenetic Map5q13NCBI
Tmem67
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541710,097,472 - 10,138,644 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541710,097,488 - 10,137,959 (+)NCBIChiLan1.0ChiLan1.0
TMEM67
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1892,324,402 - 92,387,437 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl892,324,402 - 92,387,437 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0890,378,623 - 90,442,904 (+)NCBIMhudiblu_PPA_v0panPan3
TMEM67
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12938,655,531 - 38,715,774 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2938,654,733 - 38,720,559 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2938,817,691 - 38,877,961 (+)NCBI
ROS_Cfam_1.02938,859,810 - 38,920,095 (+)NCBI
UMICH_Zoey_3.12938,873,675 - 38,933,947 (+)NCBI
UNSW_CanFamBas_1.02938,868,253 - 38,928,540 (+)NCBI
UU_Cfam_GSD_1.02939,309,700 - 39,370,424 (+)NCBI
Tmem67
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530340,860,751 - 40,904,822 (-)NCBI
SpeTri2.0NW_0049365446,887,867 - 6,931,669 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM67
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl442,878,254 - 42,931,121 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1442,878,249 - 42,931,106 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2446,289,107 - 46,341,896 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TMEM67
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1888,726,783 - 88,818,111 (+)NCBI
ChlSab1.1 Ensembl888,726,837 - 88,792,049 (+)Ensembl
Vero_WHO_p1.0NW_02366603952,056,457 - 52,122,252 (-)NCBI
Tmem67
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247631,219,779 - 1,281,297 (+)NCBI

Position Markers
D8S1128  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378128,595,148 - 128,595,388UniSTSGRCh37
Build 368128,664,330 - 128,664,570RGDNCBI36
Celera8124,775,155 - 124,775,411RGD
Cytogenetic Map8q22.1UniSTS
HuRef8123,915,761 - 123,916,017UniSTS
Marshfield Genetic Map8139.53RGD
Marshfield Genetic Map8139.53UniSTS
deCODE Assembly Map8135.57UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH102073  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,828,714 - 94,828,926UniSTSGRCh37
Build 36894,897,890 - 94,898,102RGDNCBI36
Celera891,014,773 - 91,014,985RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,036,300 - 90,036,512UniSTS
GeneMap99-GB4 RH Map8435.44UniSTS
RH102566  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37894,829,963 - 94,830,092UniSTSGRCh37
Build 36894,899,139 - 94,899,268RGDNCBI36
Celera891,016,022 - 91,016,151RGD
Cytogenetic Map8q22.1UniSTS
HuRef890,037,549 - 90,037,678UniSTS
GeneMap99-GB4 RH Map8435.44UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
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Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2580
Count of miRNA genes:1047
Interacting mature miRNAs:1261
Transcripts:ENST00000323130, ENST00000409623, ENST00000425545, ENST00000452276, ENST00000453321, ENST00000453906, ENST00000455946, ENST00000463467, ENST00000474944, ENST00000475305, ENST00000481620, ENST00000496213, ENST00000498673, ENST00000518319, ENST00000518896, ENST00000519845, ENST00000520634, ENST00000520680, ENST00000521065, ENST00000521222, ENST00000521517, ENST00000523230
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 14 37 535 1 7 1 87 41 367 26 560 409 3 1 50 1
Low 2416 2198 1017 449 1204 290 3749 1606 3282 384 899 1202 172 1204 2217 5 2
Below cutoff 8 732 173 173 716 173 521 550 85 9 1 2 521

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001142301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_153704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_024522 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001745619 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_428387 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_928362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC010834 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC032835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC054338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM310097 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA928293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC368894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178828 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000323130   ⟹   ENSP00000314488
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,819,234 (+)Ensembl
RefSeq Acc Id: ENST00000409623   ⟹   ENSP00000386966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,899 - 93,816,778 (+)Ensembl
RefSeq Acc Id: ENST00000425545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,769,519 - 93,782,450 (+)Ensembl
RefSeq Acc Id: ENST00000452276   ⟹   ENSP00000388671
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,816,452 (+)Ensembl
RefSeq Acc Id: ENST00000453321   ⟹   ENSP00000389998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,894 - 93,818,121 (+)Ensembl
RefSeq Acc Id: ENST00000453906   ⟹   ENSP00000403035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,894 - 93,816,860 (+)Ensembl
RefSeq Acc Id: ENST00000455946   ⟹   ENSP00000416339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,909 - 93,765,616 (+)Ensembl
RefSeq Acc Id: ENST00000463467
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,816,408 - 93,818,056 (+)Ensembl
RefSeq Acc Id: ENST00000474944
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,895 - 93,809,971 (+)Ensembl
RefSeq Acc Id: ENST00000475305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,906 - 93,759,480 (+)Ensembl
RefSeq Acc Id: ENST00000481620
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,912 - 93,757,130 (+)Ensembl
RefSeq Acc Id: ENST00000496213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,765,531 - 93,780,970 (+)Ensembl
RefSeq Acc Id: ENST00000498673   ⟹   ENSP00000430232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,865 - 93,763,933 (+)Ensembl
RefSeq Acc Id: ENST00000518319   ⟹   ENSP00000430289
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,865 - 93,765,591 (+)Ensembl
RefSeq Acc Id: ENST00000518896
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,795,469 - 93,817,381 (+)Ensembl
RefSeq Acc Id: ENST00000519845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,794,816 - 93,816,696 (+)Ensembl
RefSeq Acc Id: ENST00000520634
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,785,222 - 93,785,812 (+)Ensembl
RefSeq Acc Id: ENST00000520680   ⟹   ENSP00000428785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,910 - 93,816,892 (+)Ensembl
RefSeq Acc Id: ENST00000521065   ⟹   ENSP00000427947
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,894 - 93,782,416 (+)Ensembl
RefSeq Acc Id: ENST00000521222   ⟹   ENSP00000429925
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,906 - 93,765,458 (+)Ensembl
RefSeq Acc Id: ENST00000521517   ⟹   ENSP00000430740
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,816,452 (+)Ensembl
RefSeq Acc Id: ENST00000523230
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,791,210 - 93,797,403 (+)Ensembl
RefSeq Acc Id: ENST00000681998   ⟹   ENSP00000506773
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,817,621 (+)Ensembl
RefSeq Acc Id: ENST00000682036   ⟹   ENSP00000508390
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,894 - 93,817,644 (+)Ensembl
RefSeq Acc Id: ENST00000682577   ⟹   ENSP00000506963
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,817,656 (+)Ensembl
RefSeq Acc Id: ENST00000682624   ⟹   ENSP00000508343
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,894 - 93,818,056 (+)Ensembl
RefSeq Acc Id: ENST00000682700   ⟹   ENSP00000507627
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,816,552 (+)Ensembl
RefSeq Acc Id: ENST00000682744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,780,341 - 93,817,637 (+)Ensembl
RefSeq Acc Id: ENST00000682804
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,885 - 93,817,637 (+)Ensembl
RefSeq Acc Id: ENST00000682837   ⟹   ENSP00000507920
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,819,071 (+)Ensembl
RefSeq Acc Id: ENST00000682935
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,819,139 (+)Ensembl
RefSeq Acc Id: ENST00000682984   ⟹   ENSP00000507209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,894 - 93,819,224 (+)Ensembl
RefSeq Acc Id: ENST00000683078   ⟹   ENSP00000506796
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,817,637 (+)Ensembl
RefSeq Acc Id: ENST00000683223   ⟹   ENSP00000507685
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,816,760 (+)Ensembl
RefSeq Acc Id: ENST00000683238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,755,094 - 93,816,632 (+)Ensembl
RefSeq Acc Id: ENST00000683249
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,894 - 93,817,646 (+)Ensembl
RefSeq Acc Id: ENST00000683336   ⟹   ENSP00000507695
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,817,651 (+)Ensembl
RefSeq Acc Id: ENST00000683362   ⟹   ENSP00000506985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,894 - 93,817,637 (+)Ensembl
RefSeq Acc Id: ENST00000683850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,992 - 93,809,596 (+)Ensembl
RefSeq Acc Id: ENST00000683919   ⟹   ENSP00000507617
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,817,637 (+)Ensembl
RefSeq Acc Id: ENST00000683953   ⟹   ENSP00000508375
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,817,637 (+)Ensembl
RefSeq Acc Id: ENST00000684023   ⟹   ENSP00000507461
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,817,651 (+)Ensembl
RefSeq Acc Id: ENST00000684064   ⟹   ENSP00000508192
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,844 - 93,817,637 (+)Ensembl
RefSeq Acc Id: ENST00000684089
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,925 - 93,817,637 (+)Ensembl
RefSeq Acc Id: ENST00000684149   ⟹   ENSP00000507943
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,894 - 93,819,216 (+)Ensembl
RefSeq Acc Id: ENST00000684343   ⟹   ENSP00000507591
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,794,818 - 93,817,667 (+)Ensembl
RefSeq Acc Id: ENST00000684416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,887 - 93,816,760 (+)Ensembl
RefSeq Acc Id: ENST00000684540   ⟹   ENSP00000507987
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,915 - 93,819,108 (+)Ensembl
RefSeq Acc Id: ENST00000684733
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl893,754,891 - 93,759,484 (+)Ensembl
RefSeq Acc Id: NM_001142301   ⟹   NP_001135773
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,754,844 - 93,818,119 (+)NCBI
GRCh37894,767,072 - 94,831,462 (+)ENTREZGENE
HuRef889,974,594 - 90,039,048 (+)ENTREZGENE
CHM1_1894,807,348 - 94,870,627 (+)NCBI
Sequence:
RefSeq Acc Id: NM_153704   ⟹   NP_714915
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,754,894 - 93,818,121 (+)NCBI
GRCh37894,767,072 - 94,831,462 (+)ENTREZGENE
Build 36894,836,321 - 94,898,323 (+)NCBI Archive
HuRef889,974,594 - 90,039,048 (+)ENTREZGENE
CHM1_1894,807,348 - 94,870,627 (+)NCBI
Sequence:
RefSeq Acc Id: NR_024522
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,754,894 - 93,819,238 (+)NCBI
GRCh37894,767,072 - 94,831,462 (+)ENTREZGENE
HuRef889,974,594 - 90,039,048 (+)ENTREZGENE
CHM1_1894,807,348 - 94,871,742 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006716686   ⟹   XP_006716749
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,754,917 - 93,817,667 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011517363   ⟹   XP_011515665
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,754,900 - 93,817,667 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024447326   ⟹   XP_024303094
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,754,913 - 93,817,667 (+)NCBI
Sequence:
RefSeq Acc Id: XR_001745619
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,754,874 - 93,832,653 (+)NCBI
Sequence:
RefSeq Acc Id: XR_428387
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,754,874 - 93,818,057 (+)NCBI
Sequence:
RefSeq Acc Id: XR_928360
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,754,874 - 93,832,653 (+)NCBI
Sequence:
RefSeq Acc Id: XR_928362
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,754,874 - 93,818,057 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_714915   ⟸   NM_153704
- Peptide Label: isoform 1 precursor
- UniProtKB: Q5HYA8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001135773   ⟸   NM_001142301
- Peptide Label: isoform 2
- UniProtKB: Q5HYA8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716749   ⟸   XM_006716686
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011515665   ⟸   XM_011517363
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_024303094   ⟸   XM_024447326
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000430289   ⟸   ENST00000518319
RefSeq Acc Id: ENSP00000388671   ⟸   ENST00000452276
RefSeq Acc Id: ENSP00000403035   ⟸   ENST00000453906
RefSeq Acc Id: ENSP00000389998   ⟸   ENST00000453321
RefSeq Acc Id: ENSP00000314488   ⟸   ENST00000323130
RefSeq Acc Id: ENSP00000416339   ⟸   ENST00000455946
RefSeq Acc Id: ENSP00000428785   ⟸   ENST00000520680
RefSeq Acc Id: ENSP00000429925   ⟸   ENST00000521222
RefSeq Acc Id: ENSP00000427947   ⟸   ENST00000521065
RefSeq Acc Id: ENSP00000430740   ⟸   ENST00000521517
RefSeq Acc Id: ENSP00000430232   ⟸   ENST00000498673
RefSeq Acc Id: ENSP00000386966   ⟸   ENST00000409623
RefSeq Acc Id: ENSP00000507987   ⟸   ENST00000684540
RefSeq Acc Id: ENSP00000507920   ⟸   ENST00000682837
RefSeq Acc Id: ENSP00000506963   ⟸   ENST00000682577
RefSeq Acc Id: ENSP00000507461   ⟸   ENST00000684023
RefSeq Acc Id: ENSP00000507617   ⟸   ENST00000683919
RefSeq Acc Id: ENSP00000507685   ⟸   ENST00000683223
RefSeq Acc Id: ENSP00000506796   ⟸   ENST00000683078
RefSeq Acc Id: ENSP00000507209   ⟸   ENST00000682984
RefSeq Acc Id: ENSP00000508192   ⟸   ENST00000684064
RefSeq Acc Id: ENSP00000507943   ⟸   ENST00000684149
RefSeq Acc Id: ENSP00000508375   ⟸   ENST00000683953
RefSeq Acc Id: ENSP00000506773   ⟸   ENST00000681998
RefSeq Acc Id: ENSP00000508343   ⟸   ENST00000682624
RefSeq Acc Id: ENSP00000508390   ⟸   ENST00000682036
RefSeq Acc Id: ENSP00000507591   ⟸   ENST00000684343
RefSeq Acc Id: ENSP00000506985   ⟸   ENST00000683362
RefSeq Acc Id: ENSP00000507627   ⟸   ENST00000682700
RefSeq Acc Id: ENSP00000507695   ⟸   ENST00000683336

Promoters
RGD ID:7213759
Promoter ID:EPDNEW_H12625
Type:initiation region
Name:TMEM67_1
Description:transmembrane protein 67
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38893,754,903 - 93,754,963EPDNEW
RGD ID:6807064
Promoter ID:HG_KWN:61709
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000329647,   OTTHUMT00000329648,   OTTHUMT00000329649,   OTTHUMT00000329652,   UC003YGA.2,   UC003YGD.2,   UC010MAT.1,   UC010MAU.1,   UC010MAV.1,   UC010MAW.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36894,836,026 - 94,836,526 (+)MPROMDB
RGD ID:6813539
Promoter ID:HG_ACW:77947
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:TMEM67.DAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 36894,860,806 - 94,861,306 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
P358L variation Joubert syndrome 6 [RCV000023793] Chr8:8q21.13-q22.1 pathogenic
NM_153704.6(TMEM67):c.383_384del (p.His128fs) deletion Meckel syndrome, type 3 [RCV000001430] Chr8:93758552..93758553 [GRCh38]
Chr8:94770780..94770781 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_153704.6(TMEM67):c.648del (p.Val217fs) deletion Meckel syndrome, type 3 [RCV000001431] Chr8:93765642 [GRCh38]
Chr8:94777870 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001142301.1(TMEM67):c.627-2A>G single nucleotide variant Meckel syndrome, type 3 [RCV000001432] Chr8:93780872 [GRCh38]
Chr8:94793100 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001142301.1(TMEM67):c.2072_2079+4delinsG indel Joubert syndrome 6 [RCV000001433] Chr8:93803677..93803688 [GRCh38]
Chr8:94815905..94815916 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.1127A>C (p.Gln376Pro) single nucleotide variant Meckel syndrome, type 3 [RCV000001434] Chr8:93782456 [GRCh38]
Chr8:94794684 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001142301.1(TMEM67):c.1332+1G>A single nucleotide variant Meckel syndrome, type 3 [RCV000001435] Chr8:93791320 [GRCh38]
Chr8:94803548 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) single nucleotide variant Joubert syndrome 6 [RCV000001436]|Joubert syndrome with hepatic defect [RCV000001437] Chr8:93791282 [GRCh38]
Chr8:94803510 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.2439+5G>C single nucleotide variant Joubert syndrome 6 [RCV000001438] Chr8:93804883 [GRCh38]
Chr8:94817111 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001142301.1(TMEM67):c.408+2T>G single nucleotide variant Joubert syndrome 6 [RCV000001439]|Meckel syndrome, type 3 [RCV000050199] Chr8:93765648 [GRCh38]
Chr8:94777876 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.1634G>A (p.Gly545Glu) single nucleotide variant Joubert syndrome 6 [RCV000001440] Chr8:93793256 [GRCh38]
Chr8:94805484 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001142301.1(TMEM67):c.1718-2A>C single nucleotide variant Joubert syndrome 6 [RCV000201576]|Joubert syndrome with hepatic defect [RCV000001441] Chr8:93797329 [GRCh38]
Chr8:94809557 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) single nucleotide variant Joubert syndrome 6 [RCV000001443]|Joubert syndrome [RCV000468558]|Meckel syndrome, type 3 [RCV000001442]|RHYNS syndrome [RCV000723362]|TMEM67-Related Disorders [RCV000334857]|not provided [RCV000494327] Chr8:93765617 [GRCh38]
Chr8:94777845 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) single nucleotide variant Joubert syndrome 6 [RCV000001446]|Joubert syndrome [RCV000821785]|Joubert syndrome with hepatic defect [RCV000001445]|Joubert syndrome with hepatic defect [RCV001536092]|Meckel syndrome, type 3 [RCV000995902]|not provided [RCV001310635] Chr8:93808898 [GRCh38]
Chr8:94821126 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_001142301.1(TMEM67):c.2313+1G>T single nucleotide variant Joubert syndrome 6 [RCV000201565]|Joubert syndrome with hepatic defect [RCV000001447] Chr8:93808957 [GRCh38]
Chr8:94821185 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001142301.1(TMEM67):c.-62+734G>A single nucleotide variant Joubert syndrome [RCV001388801]|Joubert syndrome with hepatic defect [RCV000001448] Chr8:93755871 [GRCh38]
Chr8:94768099 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) single nucleotide variant Joubert syndrome 6 [RCV000201677]|Joubert syndrome with hepatic defect [RCV000001449] Chr8:93795503 [GRCh38]
Chr8:94807731 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.2461G>A (p.Gly821Ser) single nucleotide variant Joubert syndrome 6 [RCV000587331]|Nephronophthisis 11 [RCV000001450] Chr8:93808861 [GRCh38]
Chr8:94821089 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg) single nucleotide variant Congenital ocular coloboma [RCV000627004]|Inborn genetic diseases [RCV000623857]|Joubert syndrome 6 [RCV000001452]|Joubert syndrome [RCV000415055]|Joubert syndrome [RCV000534533]|Joubert syndrome with hepatic defect [RCV000763610]|Nephronophthisis 11 [RCV000001451]|Nephronophthisis [RCV000234823]|RHYNS syndrome [RCV001197497]|TMEM67-Related Disorders [RCV000283682]|not provided [RCV000479077] Chr8:93795970 [GRCh38]
Chr8:94808198 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_153704.6(TMEM67):c.869G>T (p.Trp290Leu) single nucleotide variant Nephronophthisis 11 [RCV000001453] Chr8:93780747 [GRCh38]
Chr8:94792975 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.2461G>C (p.Gly821Arg) single nucleotide variant Joubert syndrome 6 [RCV000001455]|Nephronophthisis 11 [RCV000001454] Chr8:93808861 [GRCh38]
Chr8:94821089 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.130C>T (p.Gln44Ter) single nucleotide variant Joubert syndrome 6 [RCV000001456] Chr8:93755044 [GRCh38]
Chr8:94767272 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) single nucleotide variant Joubert syndrome 6 [RCV000001457]|Joubert syndrome [RCV001389251]|Nephronophthisis [RCV000234813]|not provided [RCV000418247] Chr8:93780633 [GRCh38]
Chr8:94792861 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.1289A>G (p.Asp430Gly) single nucleotide variant RHYNS syndrome [RCV000723363] Chr8:93786223 [GRCh38]
Chr8:94798451 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.3G>T (p.Met1Ile) single nucleotide variant not provided [RCV000722322] Chr8:93754917 [GRCh38]
Chr8:94767145 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_153704.6(TMEM67):c.638G>A (p.Arg213His) single nucleotide variant Joubert syndrome [RCV000542172] Chr8:93765633 [GRCh38]
Chr8:94777861 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_153704.6(TMEM67):c.458G>T (p.Cys153Phe) single nucleotide variant not provided [RCV000722618] Chr8:93763893 [GRCh38]
Chr8:94776121 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_153704.6(TMEM67):c.2647T>C (p.Ser883Pro) single nucleotide variant not provided [RCV000722989] Chr8:93809147 [GRCh38]
Chr8:94821375 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_153704.6(TMEM67):c.226A>G (p.Thr76Ala) single nucleotide variant not provided [RCV000728917] Chr8:93755780 [GRCh38]
Chr8:94768008 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_153704.6(TMEM67):c.653G>C (p.Gly218Ala) single nucleotide variant Joubert syndrome 6 [RCV001165119]|Joubert syndrome with hepatic defect [RCV001333011]|Meckel syndrome, type 3 [RCV001165120]|Nephronophthisis 11 [RCV001165118]|RHYNS syndrome [RCV001198569]|not provided [RCV000519954] Chr8:93772590 [GRCh38]
Chr8:94784818 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_153704.6(TMEM67):c.958A>T (p.Ser320Cys) single nucleotide variant Bardet-Biedl syndrome 14, modifier of [RCV000001444]|Joubert syndrome 6 [RCV001158404]|Joubert syndrome [RCV001085857]|Joubert syndrome with hepatic defect [RCV001333012]|Meckel syndrome, type 3 [RCV001158405]|Nephronophthisis 11 [RCV001158406]|Nephronophthisis [RCV000234830]|RHYNS syndrome [RCV001198570]|not provided [RCV000725926]|not specified [RCV000242814] Chr8:93780962 [GRCh38]
Chr8:94793190 [GRCh37]
Chr8:8q22.1
risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) single nucleotide variant Bardet-Biedl syndrome [RCV000515409]|Joubert syndrome 6 [RCV000201777]|Joubert syndrome [RCV000560903]|Meckel syndrome, type 3 [RCV000050175]|Meckel-Gruber syndrome [RCV000114240]|TMEM67-Related Disorders [RCV000778866]|not provided [RCV001267954] Chr8:93781725 [GRCh38]
Chr8:94793953 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_001142301.1(TMEM67):c.1045+46C>T single nucleotide variant not provided [RCV000834508]|not specified [RCV000114241] Chr8:93785424 [GRCh38]
Chr8:94797652 [GRCh37]
Chr8:8q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_153704.6(TMEM67):c.1309C>G (p.Leu437Val) single nucleotide variant Joubert syndrome [RCV000200297]|Meckel syndrome, type 3 [RCV001161604]|not specified [RCV000114242] Chr8:93786243 [GRCh38]
Chr8:94798471 [GRCh37]
Chr8:8q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142301.1(TMEM67):c.1531-45A>C single nucleotide variant not provided [RCV001574408]|not specified [RCV000114243] Chr8:93795856 [GRCh38]
Chr8:94808084 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) single nucleotide variant Joubert syndrome 6 [RCV000278248]|Joubert syndrome [RCV000860134]|Meckel syndrome, type 3 [RCV000323495]|Nephronophthisis 11 [RCV000378100]|not specified [RCV000114244] Chr8:93795937 [GRCh38]
Chr8:94808165 [GRCh37]
Chr8:8q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) single nucleotide variant Joubert syndrome 6 [RCV001163245]|Joubert syndrome [RCV001079645]|Meckel syndrome, type 3 [RCV001163246]|Nephronophthisis 11 [RCV001163247]|not provided [RCV000419164]|not specified [RCV000114245] Chr8:93799678 [GRCh38]
Chr8:94811906 [GRCh37]
Chr8:8q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142301.1(TMEM67):c.-62+637_-62+638del deletion not specified [RCV000114246] Chr8:93755752..93755753 [GRCh38]
Chr8:94767980..94767981 [GRCh37]
Chr8:8q22.1
benign
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) single nucleotide variant Bardet-Biedl syndrome 14 [RCV000585745]|Joubert syndrome 6 [RCV001158619]|Joubert syndrome [RCV000205181]|Meckel syndrome, type 3 [RCV001158617]|Nephronophthisis 11 [RCV001158618]|not specified [RCV000114247] Chr8:93804836 [GRCh38]
Chr8:94817064 [GRCh37]
Chr8:8q22.1
benign|uncertain significance
NM_001142301.1(TMEM67):c.107C>T (p.Pro36Leu) single nucleotide variant not provided [RCV000834521]|not specified [RCV000114248] Chr8:93759937 [GRCh38]
Chr8:94772165 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_153704.6(TMEM67):c.748G>A (p.Gly250Arg) single nucleotide variant Meckel-Gruber syndrome [RCV000114249] Chr8:93780626 [GRCh38]
Chr8:94792854 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) single nucleotide variant Joubert syndrome [RCV000547961]|Meckel syndrome, type 3 [RCV001165121]|not provided [RCV001572851]|not specified [RCV000114250] Chr8:93780659 [GRCh38]
Chr8:94792887 [GRCh37]
Chr8:8q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_001142301.1(TMEM67):c.627-29A>G single nucleotide variant not specified [RCV000114251] Chr8:93780845 [GRCh38]
Chr8:94793073 [GRCh37]
Chr8:8q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_153704.6(TMEM67):c.2754_2756del (p.Phe919del) deletion Meckel syndrome, type 3 [RCV000049341] Chr8:93809876..93809878 [GRCh38]
Chr8:94822104..94822106 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.1065+1del deletion Meckel syndrome, type 3 [RCV000050176] Chr8:93781744 [GRCh38]
Chr8:94793972 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) single nucleotide variant Meckel syndrome, type 3 [RCV000050177]|not provided [RCV000430117] Chr8:93786253 [GRCh38]
Chr8:94798481 [GRCh37]
Chr8:8q22.1
likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu) single nucleotide variant Joubert syndrome [RCV000823807]|Meckel syndrome, type 3 [RCV000050178] Chr8:93786256 [GRCh38]
Chr8:94798484 [GRCh37]
Chr8:8q22.1
likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.1336G>C (p.Asp446His) single nucleotide variant Meckel syndrome, type 3 [RCV000050179] Chr8:93786270 [GRCh38]
Chr8:94798498 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_001142301.1(TMEM67):c.1170-1G>C single nucleotide variant Joubert syndrome [RCV000694518]|Meckel syndrome, type 3 [RCV000050180] Chr8:93787843 [GRCh38]
Chr8:94800071 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.1538_1539del (p.Thr512_Tyr513insTer) microsatellite Meckel syndrome, type 3 [RCV000050181] Chr8:93791280..93791281 [GRCh38]
Chr8:94803508..94803509 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.161A>G (p.Tyr54Cys) single nucleotide variant Meckel syndrome, type 3 [RCV000050182] Chr8:93755075 [GRCh38]
Chr8:94767303 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.2002T>C (p.Trp668Arg) single nucleotide variant Meckel syndrome, type 3 [RCV000050183] Chr8:93797372 [GRCh38]
Chr8:94809600 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_001142301.1(TMEM67):c.-62+639del deletion Meckel syndrome, type 3 [RCV000050184] Chr8:93755776 [GRCh38]
Chr8:94768004 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.2301del (p.Asp768fs) deletion Meckel syndrome, type 3 [RCV000050185] Chr8:93803662 [GRCh38]
Chr8:94815890 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_001142301.1(TMEM67):c.2079+2dup duplication Joubert syndrome 6 [RCV000201707]|Meckel syndrome, type 3 [RCV000050186]|not provided [RCV000176336] Chr8:93803685..93803686 [GRCh38]
Chr8:94815913..94815914 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_153704.6(TMEM67):c.2357G>A (p.Gly786Glu) single nucleotide variant Meckel syndrome, type 3 [RCV000050187]|not provided [RCV000393971] Chr8:93804796 [GRCh38]
Chr8:94817024 [GRCh37]
Chr8:8q22.1
likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys) single nucleotide variant Meckel syndrome, type 3 [RCV000050188] Chr8:93808928 [GRCh38]
Chr8:94821156 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.2542G>T (p.Glu848Ter) single nucleotide variant Meckel syndrome, type 3 [RCV000050189] Chr8:93808942 [GRCh38]
Chr8:94821170 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.2557A>T (p.Lys853Ter) single nucleotide variant Meckel syndrome, type 3 [RCV000050190] Chr8:93809057 [GRCh38]
Chr8:94821285 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.2561dup (p.Asn854fs) duplication Meckel syndrome, type 3 [RCV000050191] Chr8:93809056..93809057 [GRCh38]
Chr8:94821284..94821285 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.2689_2690insTA (p.Lys897fs) insertion Meckel syndrome, type 3 [RCV000050192] Chr8:93809811..93809812 [GRCh38]
Chr8:94822039..94822040 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.2897T>C (p.Leu966Pro) single nucleotide variant Meckel syndrome, type 3 [RCV000050193] Chr8:93815437 [GRCh38]
Chr8:94827665 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_001142301.1(TMEM67):c.6_7delAC (p.Leu3Valfs) deletion Meckel syndrome type 3 [RCV000050194] Chr8:93758553..93758554 [GRCh38]
Chr8:94770781..94770782 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.387T>A (p.Cys129Ter) single nucleotide variant Meckel syndrome, type 3 [RCV000050195] Chr8:93758557 [GRCh38]
Chr8:94770785 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) deletion Joubert syndrome 6 [RCV000194151]|Joubert syndrome [RCV000636962]|Meckel syndrome, type 3 [RCV000050196]|TMEM67-Related Disorders [RCV000279833]|not provided [RCV000514413] Chr8:93765574..93765575 [GRCh38]
Chr8:94777802..94777803 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.579del (p.Gly195fs) deletion Meckel syndrome, type 3 [RCV000050197] Chr8:93765574 [GRCh38]
Chr8:94777802 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_001142301.1(TMEM67):c.405delA (p.Val136Leufs) deletion Meckel syndrome type 3 [RCV000050198] Chr8:93765643 [GRCh38]
Chr8:94777871 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_001142301.1(TMEM67):c.408+2T>G single nucleotide variant Meckel syndrome type 3 [RCV000050199] Chr8:93765648 [GRCh38]
Chr8:94777876 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.675G>A (p.Trp225Ter) single nucleotide variant Joubert syndrome 6 [RCV000201769]|Meckel syndrome, type 3 [RCV000050200] Chr8:93772612 [GRCh38]
Chr8:94784840 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.734C>T (p.Ser245Phe) single nucleotide variant Meckel syndrome, type 3 [RCV000050201] Chr8:93780612 [GRCh38]
Chr8:94792840 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.888G>T (p.Trp296Cys) single nucleotide variant Meckel syndrome, type 3 [RCV000050202] Chr8:93780892 [GRCh38]
Chr8:94793120 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_001142301.1(TMEM67):c.1332+1G>A single nucleotide variant Meckel syndrome type 3 [RCV000050205] Chr8:93791320 [GRCh38]
Chr8:94803548 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_001142301.1(TMEM67):c.627-2A>G single nucleotide variant Meckel syndrome type 3 [RCV000050206] Chr8:93780872 [GRCh38]
Chr8:94793100 [GRCh37]
Chr8:8q22.1
likely pathogenic
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 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 8q21.13-22.1(chr8:78672463-95366868)x1 copy number loss See cases [RCV000054262] Chr8:78672463..95366868 [GRCh38]
Chr8:79584698..96379096 [GRCh37]
Chr8:79747253..96448272 [NCBI36]
Chr8:8q21.13-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1 copy number loss See cases [RCV000054263] Chr8:90940996..94538343 [GRCh38]
Chr8:91953224..95550571 [GRCh37]
Chr8:92022400..95619747 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92283179-95786443)x1 copy number loss See cases [RCV000054265] Chr8:92283179..95786443 [GRCh38]
Chr8:93295407..96798671 [GRCh37]
Chr8:93364583..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q21.3-22.1(chr8:92287062-95786443)x1 copy number loss See cases [RCV000054277] Chr8:92287062..95786443 [GRCh38]
Chr8:93299290..96798671 [GRCh37]
Chr8:93368466..96867847 [NCBI36]
Chr8:8q21.3-22.1
pathogenic
GRCh38/hg38 8q22.1(chr8:92755532-97792132)x1 copy number loss See cases [RCV000054278] Chr8:92755532..97792132 [GRCh38]
Chr8:93767760..98804360 [GRCh37]
Chr8:93836936..98873536 [NCBI36]
Chr8:8q22.1
pathogenic
NM_001142301.1(TMEM67):c.823-3C>T single nucleotide variant Joubert syndrome 6 [RCV000364741]|Joubert syndrome [RCV000860133]|Meckel syndrome, type 3 [RCV000310098]|Nephronophthisis 11 [RCV000397297]|not specified [RCV000082681] Chr8:93782392 [GRCh38]
Chr8:94794620 [GRCh37]
Chr8:8q22.1
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) single nucleotide variant Joubert syndrome 6 [RCV000290988]|Joubert syndrome [RCV000471831]|Meckel syndrome, type 3 [RCV000327495]|Nephronophthisis 11 [RCV000376078]|not specified [RCV000082682] Chr8:93815432 [GRCh38]
Chr8:94827660 [GRCh37]
Chr8:8q22.1
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_153704.6(TMEM67):c.739C>G (p.Gln247Glu) single nucleotide variant not provided [RCV000171417] Chr8:93780617 [GRCh38]
Chr8:94792845 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_001142301.1(TMEM67):c.1170-2A>G single nucleotide variant not provided [RCV000171449] Chr8:93787842 [GRCh38]
Chr8:94800070 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) single nucleotide variant Joubert syndrome 1 [RCV000988093]|Joubert syndrome [RCV000860917]|not specified [RCV000173581] Chr8:93754939 [GRCh38]
Chr8:94767167 [GRCh37]
Chr8:8q22.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_153704.6(TMEM67):c.2707G>C (p.Glu903Gln) single nucleotide variant Joubert syndrome and related disorders [RCV000256415] Chr8:93809830 [GRCh38]
Chr8:94822058 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) single nucleotide variant Joubert syndrome 1 [RCV000988094]|Joubert syndrome [RCV001409831]|not provided [RCV001356583]|not specified [RCV000174181] Chr8:93782407 [GRCh38]
Chr8:94794635 [GRCh37]
Chr8:8q22.1
benign|likely benign|uncertain significance
NM_153704.6(TMEM67):c.1081G>T (p.Glu361Ter) single nucleotide variant Joubert syndrome 6 [RCV000201527] Chr8:93782410 [GRCh38]
Chr8:94794638 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.1115C>A (p.Thr372Lys) single nucleotide variant Joubert syndrome 6 [RCV000201528]|Joubert syndrome [RCV000636949]|Joubert syndrome with hepatic defect [RCV000763608]|not provided [RCV000419395] Chr8:93782444 [GRCh38]
Chr8:94794672 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_001142301.1(TMEM67):c.2418+5G>A single nucleotide variant Joubert syndrome 6 [RCV000201535] Chr8:93809166 [GRCh38]
Chr8:94821394 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.1453C>T (p.Pro485Ser) single nucleotide variant Joubert syndrome 6 [RCV000201544] Chr8:93787884 [GRCh38]
Chr8:94800112 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.245C>G (p.Pro82Arg) single nucleotide variant Joubert syndrome 6 [RCV000201553]|not provided [RCV000435911] Chr8:93755799 [GRCh38]
Chr8:94768027 [GRCh37]
Chr8:8q22.1
pathogenic|conflicting interpretations of pathogenicity
NM_001142301.1(TMEM67):c.1431+3A>G single nucleotide variant Joubert syndrome 6 [RCV000201579] Chr8:93793299 [GRCh38]
Chr8:94805527 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu) single nucleotide variant Joubert syndrome 6 [RCV000201590] Chr8:93782402 [GRCh38]
Chr8:94794630 [GRCh37]
Chr8:8q22.1
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.1(chr8:93038175-95667782)x1 copy number loss See cases [RCV000136519] Chr8:93038175..95667782 [GRCh38]
Chr8:94050403..96680010 [GRCh37]
Chr8:94119579..96749186 [NCBI36]
Chr8:8q22.1
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 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
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 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 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
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
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_153704.6(TMEM67):c.2290C>T (p.Arg764Ter) single nucleotide variant Joubert syndrome 6 [RCV000201592] Chr8:93803652 [GRCh38]
Chr8:94815880 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala) single nucleotide variant not provided [RCV000176240] Chr8:93799649 [GRCh38]
Chr8:94811877 [GRCh37]
Chr8:8q22.1
uncertain significance
Single allele duplication not provided [RCV000176336] Chr8:93803686..93803687 [GRCh38]
Chr8:94815914..94815915 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_153704.6(TMEM67):c.271G>A (p.Gly91Arg) single nucleotide variant not specified [RCV000192700] Chr8:93755825 [GRCh38]
Chr8:94768053 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_153704.6(TMEM67):c.297G>T (p.Lys99Asn) single nucleotide variant Joubert syndrome 6 [RCV000201747]|not specified [RCV000192720] Chr8:93755851 [GRCh38]
Chr8:94768079 [GRCh37]
Chr8:8q22.1
likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.2806G>A (p.Glu936Lys) single nucleotide variant not specified [RCV000194126] Chr8:93815346 [GRCh38]
Chr8:94827574 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_153704.6(TMEM67):c.2900A>C (p.Gln967Pro) single nucleotide variant not specified [RCV000194777] Chr8:93815440 [GRCh38]
Chr8:94827668 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_001142301.1(TMEM67):c.1431+5A>T single nucleotide variant Joubert syndrome [RCV000196421] Chr8:93793301 [GRCh38]
Chr8:94805529 [GRCh37]
Chr8:8q22.1
likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) single nucleotide variant Joubert syndrome 6 [RCV000339372]|Joubert syndrome [RCV000196386]|Meckel syndrome, type 3 [RCV000291370]|Nephronophthisis 11 [RCV000377674]|not specified [RCV000245192] Chr8:93755100 [GRCh38]
Chr8:94767328 [GRCh37]
Chr8:8q22.1
benign|likely benign|uncertain significance
NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser) single nucleotide variant Inborn genetic diseases [RCV000624166]|Joubert syndrome 6 [RCV000201726]|Joubert syndrome [RCV000198666]|not provided [RCV001090385] Chr8:93780603 [GRCh38]
Chr8:94792831 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.1426C>T (p.Pro476Ser) single nucleotide variant Joubert syndrome [RCV001086776]|not provided [RCV000200007] Chr8:93787857 [GRCh38]
Chr8:94800085 [GRCh37]
Chr8:8q22.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153704.6(TMEM67):c.2522A>C (p.Gln841Pro) single nucleotide variant Joubert syndrome 6 [RCV000201610] Chr8:93808922 [GRCh38]
Chr8:94821150 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) single nucleotide variant Joubert syndrome 6 [RCV000201614] Chr8:93780647 [GRCh38]
Chr8:94792875 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001142301.1(TMEM67):c.2079+5del deletion Joubert syndrome 6 [RCV000201630] Chr8:93803689 [GRCh38]
Chr8:94815917 [GRCh37]
Chr8:8q22.1
likely pathogenic
NM_153704.6(TMEM67):c.2368C>A (p.His790Asn) single nucleotide variant Joubert syndrome 6 [RCV000201638] Chr8:93804807 [GRCh38]
Chr8:94817035 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.244C>T (p.Pro82Ser) single nucleotide variant Joubert syndrome 6 [RCV000201641] Chr8:93755798 [GRCh38]
Chr8:94768026 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) single nucleotide variant Joubert syndrome 6 [RCV000201654]|Joubert syndrome [RCV001307480]|Meckel syndrome, type 3 [RCV001161723]|Nephronophthisis 11 [RCV001163244] Chr8:93797456 [GRCh38]
Chr8:94809684 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_153704.6(TMEM67):c.2801G>A (p.Gly934Glu) single nucleotide variant Joubert syndrome 6 [RCV000201657] Chr8:93815341 [GRCh38]
Chr8:94827569 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.389C>G (p.Pro130Arg) single nucleotide variant Joubert syndrome 6 [RCV000201664] Chr8:93758559 [GRCh38]
Chr8:94770787 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.1911C>A (p.Phe637Leu) single nucleotide variant Joubert syndrome 6 [RCV000201665] Chr8:93797184 [GRCh38]
Chr8:94809412 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.515G>A (p.Arg172Gln) single nucleotide variant Joubert syndrome 6 [RCV000201683] Chr8:93765414 [GRCh38]
Chr8:94777642 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter) single nucleotide variant Joubert syndrome 6 [RCV000201701]|not provided [RCV001536330] Chr8:93786285 [GRCh38]
Chr8:94798513 [GRCh37]
Chr8:8q22.1
pathogenic
NM_001142301.1(TMEM67):c.735+3A>G single nucleotide variant Joubert syndrome 6 [RCV000201705] Chr8:93780985 [GRCh38]
Chr8:94793213 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) single nucleotide variant Joubert syndrome 6 [RCV000201716] Chr8:93755854 [GRCh38]
Chr8:94768082 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.1126C>G (p.Gln376Glu) single nucleotide variant Joubert syndrome 6 [RCV000201732] Chr8:93782455 [GRCh38]
Chr8:94794683 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.730A>G (p.Thr244Ala) single nucleotide variant Joubert syndrome 6 [RCV000201733] Chr8:93780608 [GRCh38]
Chr8:94792836 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.2825T>G (p.Phe942Cys) single nucleotide variant Joubert syndrome 6 [RCV000201774] Chr8:93815365 [GRCh38]
Chr8:94827593 [GRCh37]
Chr8:8q22.1
pathogenic
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) single nucleotide variant Congenital ocular coloboma [RCV000627003]|Inborn genetic diseases [RCV000623940]|Joubert syndrome 6 [RCV000201784]|Joubert syndrome [RCV000414925]|Joubert syndrome with hepatic defect [RCV000763609] Chr8:93786255 [GRCh38]
Chr8:94798483 [GRCh37]
Chr8:8q22.1
pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.934T>C (p.Ser312Pro) single nucleotide variant Joubert syndrome [RCV000204544] Chr8:93780938 [GRCh38]
Chr8:94793166 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) single nucleotide variant Joubert syndrome [RCV000204053]|Nephronophthisis 11 [RCV001281327] Chr8:93765416 [GRCh38]
Chr8:94777644 [GRCh37]
Chr8:8q22.1
likely pathogenic|uncertain significance
NM_001142301.1(TMEM67):c.2522-6del deletion Joubert syndrome [RCV001446497]|not provided [RCV000224597]|not specified [RCV000729622] Chr8:93815293 [GRCh38]
Chr8:94827521 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_153704.6(TMEM67):c.2725G>C (p.Glu909Gln) single nucleotide variant Joubert syndrome [RCV000232047] Chr8:93809848 [GRCh38]
Chr8:94822076 [GRCh37]
Chr8:8q22.1
uncertain significance
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) single nucleotide variant Joubert syndrome 6 [RCV001163249]|Joubert syndrome [RCV001087450]|Meckel syndrome, type 3 [RCV001163248]|Nephronophthisis 11 [RCV001163250]|Nephronophthisis [RCV000234818]|not provided [RCV000723708]|not specified [RCV000251115] Chr8:93799758 [GRCh38]
Chr8:94811986 [GRCh37]
Chr8:8q22.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001142301.1(TMEM67):c.263+18G>T single nucleotide variant Joubert syndrome [RCV001522607]|not provided [RCV000513995]|not specified [RCV000243625] Chr8:93763959 [GRCh38]
Chr8:94776187 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001142301.1(TMEM67):c.735+13A>G single nucleotide variant not specified [RCV000245999] Chr8:93780995 [GRCh38]
Chr8:94793223 [GRCh37]
Chr8:8q22.1
likely benign
NM_001142301.1(TMEM67):c.-62+759C>G single nucleotide variant not provided [RCV001574425]|not specified [RCV000248711] Chr8:93755896 [GRCh38]
Chr8:94768124 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001142301.1(TMEM67):c.627-30C>T single nucleotide variant not specified [RCV000251051] Chr8:93780844 [GRCh38]
Chr8:94793072 [GRCh37]
Chr8:8q22.1
benign
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) single nucleotide variant Joubert syndrome 6 [RCV001168637]|Joubert syndrome [RCV000549204]|Meckel syndrome, type 3 [RCV001168639]|Nephronophthisis 11 [RCV001168638]|not specified [RCV000243894] Chr8:93816416 [GRCh38]
Chr8:94828644 [GRCh37]
Chr8:8q22.1
benign|likely benign|uncertain significance
NM_153704.6(TMEM67):c.120T>C (p.Ser40=) single nucleotide variant Joubert syndrome 6 [RCV000274744]|Joubert syndrome [RCV000636980]|Meckel syndrome, type 3 [RCV000332073]|Nephronophthisis 11 [RCV000388990]|not specified [RCV000244178] Chr8:93755034 [GRCh38]
Chr8:94767262 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_001142301.1(TMEM67):c.-200G>C single nucleotide variant Joubert syndrome 6 [RCV001165003]|Meckel syndrome, type 3 [RCV001165005]|Nephronophthisis 11 [RCV001165004]|not specified [RCV000249236] Chr8:93754889 [GRCh38]
Chr8:94767117 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_153704.6(TMEM67):c.313-13dup duplication not specified [RCV000251841] Chr8:93758462..93758463 [GRCh38]
Chr8:94770690..94770691 [GRCh37]
Chr8:8q22.1
likely benign
NM_153704.6(TMEM67):c.*19T>C single nucleotide variant Joubert syndrome 6 [RCV001169401]|Meckel syndrome, type 3 [RCV001169403]|Nephronophthisis 11 [RCV001169402]|not specified [RCV000244490] Chr8:93816471 [GRCh38]
Chr8:94828699 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001142301.1(TMEM67):c.2665-43C>T single nucleotide variant not provided [RCV000835282]|not specified [RCV000252141] Chr8:93816329 [GRCh38]
Chr8:94828557 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001142301.1(TMEM67):c.626+9A>G single nucleotide variant Joubert syndrome 6 [RCV000304460]|Joubert syndrome [RCV000861716]|Meckel syndrome, type 3 [RCV000405231]|Nephronophthisis 11 [RCV000340533]|not specified [RCV000254485] Chr8:93780756 [GRCh38]
Chr8:94792984 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_153704.6(TMEM67):c.2199T>C (p.Tyr733=) single nucleotide variant Joubert syndrome [RCV001404962]|not specified [RCV000244876] Chr8:93799716 [GRCh38]
Chr8:94811944 [GRCh37]
Chr8:8q22.1
likely benign
NM_153704.6(TMEM67):c.717A>G (p.Val239=) single nucleotide variant Joubert syndrome [RCV001394370]|not provided [RCV000867942]|not specified [RCV000244943] Chr8:93780595 [GRCh38]
Chr8:94792823 [GRCh37]
Chr8:8q22.1
likely benign|conflicting interpretations of pathogenicity
NM_001142301.1(TMEM67):c.2418+3A>G single nucleotide variant not specified [RCV000242600] Chr8:93809164 [GRCh38]
Chr8:94821392 [GRCh37]
Chr8:8q22.1
likely benign
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=) single nucleotide variant Joubert syndrome [RCV000862586]|not provided [RCV001568708]|not specified [RCV000249953] Chr8:93797380 [GRCh38]
Chr8:94809608 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_153704.6(TMEM67):c.261C>T (p.Ile87=) single nucleotide variant not specified [RCV000252436] Chr8:93755815 [GRCh38]
Chr8:94768043 [GRCh37]
Chr8:8q22.1
likely benign
NM_153704.6(TMEM67):c.2448G>A (p.Leu816=) single nucleotide variant Joubert syndrome 6 [RCV000314366]|Joubert syndrome [RCV001455464]|Meckel syndrome, type 3 [RCV000344224]|Nephronophthisis 11 [RCV000395284]|not specified [RCV000247688] Chr8:93808848 [GRCh38]
Chr8:94821076 [GRCh37]
Chr8:8q22.1
likely benign|uncertain significance
NM_001142301.1(TMEM67):c.1275+18T>C single nucleotide variant Joubert syndrome [RCV001515049]|not specified [RCV000245498] Chr8:93787967 [GRCh38]
Chr8:94800195 [GRCh37]
Chr8:8q22.1
benign
NM_001142301.1(TMEM67):c.263+48G>A single nucleotide variant not provided [RCV000835279]|not specified [RCV000248388] Chr8:93763989 [GRCh38]
Chr8:94776217 [GRCh37]
Chr8:8q22.1
benign|likely benign
NM_001142301.1(TMEM67):c.264-19T>C single nucleotide variant Joubert syndrome [RCV001511