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:28396
Description: Enables filamin binding activity and unfolded protein binding activity. Involved in several processes, including ERAD pathway; negative regulation of centrosome duplication; and non-canonical Wnt signaling pathway. Located in several cellular components, including centrosome; ciliary membrane; and ciliary transition zone. Implicated in several diseases, including Bardet-Biedl syndrome (multiple); COACH syndrome; Joubert syndrome 6; Meckel syndrome 3; and nephronophthisis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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 Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38893,754,844 - 93,832,653 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl893,754,844 - 93,819,234 (+)EnsemblGRCh38hg38GRCh38
GRCh37894,767,072 - 94,831,466 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,836,321 - 94,898,323 (+)NCBINCBI36Build 36hg18NCBI36
Celera890,953,124 - 91,017,521 (+)NCBICelera
Cytogenetic Map8q22.1NCBI
HuRef889,974,594 - 90,039,048 (+)NCBIHuRef
CHM1_1894,807,348 - 94,871,742 (+)NCBICHM1_1
T2T-CHM13v2.0894,879,829 - 94,957,683 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abducens palsy  (IAGP)
Abnormal abdomen morphology  (IAGP)
Abnormal acetabulum morphology  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal chorioretinal morphology  (IAGP)
Abnormal form of the vertebral bodies  (IAGP)
Abnormal long bone morphology  (IAGP)
Abnormal pattern of respiration  (IAGP)
Abnormal renal insterstitial morphology  (IAGP)
Abnormal urinary electrolyte concentration  (IAGP)
Abnormality of body height  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the hypothalamus-pituitary axis  (IAGP)
Abnormality of the liver  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of the skeletal system  (IAGP)
Absent speech  (IAGP)
Accessory spleen  (IAGP)
Aganglionic megacolon  (IAGP)
Aggressive behavior  (IAGP)
Agitation  (IAGP)
Ambiguous genitalia  (IAGP)
Anemia  (IAGP)
Anencephaly  (IAGP)
Anisocoria  (IAGP)
Anophthalmia  (IAGP)
Anterior hypopituitarism  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the cerebellar vermis  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Aplasia/Hypoplasia of the corpus callosum  (IAGP)
Aplasia/Hypoplasia of the iris  (IAGP)
Aplasia/Hypoplasia of the tongue  (IAGP)
Apnea  (IAGP)
Ascites  (IAGP)
Asplenia  (IAGP)
Ataxia  (IAGP)
Attention deficit hyperactivity disorder  (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)
Carotid artery dilatation  (IAGP)
Cataract  (IAGP)
Cerebellar malformation  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cholestasis  (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)
Congenital onset  (IAGP)
Cranial nerve paralysis  (IAGP)
Cryptorchidism  (IAGP)
Cystic liver disease  (IAGP)
Cystic renal dysplasia  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased response to growth hormone stimulation test  (IAGP)
Deeply set eye  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal ridge  (IAGP)
Diffuse cerebral atrophy  (IAGP)
Dilated fourth ventricle  (IAGP)
Dystonia  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Elongated superior cerebellar peduncle  (IAGP)
Encephalocele  (IAGP)
Enlarged fossa interpeduncularis  (IAGP)
Enlarged kidney  (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)
Hearing impairment  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatomegaly  (IAGP)
Hepatosplenomegaly  (IAGP)
Highly arched eyebrow  (IAGP)
Hydrocephalus  (IAGP)
Hyperechogenic kidneys  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypopituitarism  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplastic ilia  (IAGP)
Hypotonia  (IAGP)
Increased total bilirubin  (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)
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)
Morphological central nervous system abnormality  (IAGP)
Motor stereotypy  (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)
Orofacial cleft  (IAGP)
Osteopenia  (IAGP)
Osteoporosis  (IAGP)
Pancreatic cysts  (IAGP)
Pancreatic fibrosis  (IAGP)
Pancreatitis  (IAGP)
Peritonitis  (IAGP)
Pituitary hypothyroidism  (IAGP)
Polydactyly  (IAGP)
Polydipsia  (IAGP)
Polymicrogyria  (IAGP)
Polyuria  (IAGP)
Portal hypertension  (IAGP)
Postaxial foot polydactyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Posteriorly rotated ears  (IAGP)
Preaxial hand polydactyly  (IAGP)
Prominent nasal bridge  (IAGP)
Ptosis  (IAGP)
Radial bowing  (IAGP)
Reduced circulating growth hormone concentration  (IAGP)
Reduced number of intrahepatic bile ducts  (IAGP)
Reduced renal corticomedullary differentiation  (IAGP)
Renal atrophy  (IAGP)
Renal corticomedullary cysts  (IAGP)
Renal cyst  (IAGP)
Renal hypoplasia  (IAGP)
Renal insufficiency  (IAGP)
Renal tubular atrophy  (IAGP)
Retinal degeneration  (IAGP)
Rod-cone dystrophy  (IAGP)
Round face  (IAGP)
Sclerocornea  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short femoral neck  (IAGP)
Short long bone  (IAGP)
Short stature  (IAGP)
Situs inversus totalis  (IAGP)
Skeletal dysplasia  (IAGP)
Sloping forehead  (IAGP)
Small epiphyses  (IAGP)
Spastic ataxia  (IAGP)
Spasticity  (IAGP)
Splenomegaly  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Strabismus  (IAGP)
Suicidal ideation  (IAGP)
Talipes  (IAGP)
Thickened calvaria  (IAGP)
Thickened superior cerebellar peduncle  (IAGP)
Thickening of the tubular basement membrane  (IAGP)
Total ophthalmoplegia  (IAGP)
Tremor  (IAGP)
True hermaphroditism  (IAGP)
Tubular basement membrane disintegration  (IAGP)
Tubular luminal dilatation  (IAGP)
Unilateral renal agenesis  (IAGP)
Ureteral duplication  (IAGP)
Urethral atresia  (IAGP)
Vascular dilatation  (IAGP)
Visual impairment  (IAGP)
Wide mouth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The Meckel-Gruber syndrome protein TMEM67 controls basal body positioning and epithelial branching morphogenesis in mice via the non-canonical Wnt pathway. Abdelhamed ZA, etal., Dis Model Mech. 2015 Jun;8(6):527-41. doi: 10.1242/dmm.019083. Epub 2015 Apr 7.
2. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Baala L, etal., Am J Hum Genet. 2007 Jan;80(1):186-94. Epub 2006 Nov 15.
3. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Brancati F, etal., Hum Mutat. 2009 Feb;30(2):E432-42. doi: 10.1002/humu.20924.
4. Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3. Consugar MB, etal., Hum Genet. 2007 Jun;121(5):591-9. Epub 2007 Mar 22.
5. A mouse model for Meckel syndrome type 3. Cook SA, etal., J Am Soc Nephrol. 2009 Apr;20(4):753-64. doi: 10.1681/ASN.2008040412. Epub 2009 Feb 11.
6. Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). Doherty D, etal., J Med Genet. 2010 Jan;47(1):8-21. doi: 10.1136/jmg.2009.067249. Epub 2009 Jul 1.
7. Prospective Evaluation of Kidney Disease in Joubert Syndrome. Fleming LR, etal., Clin J Am Soc Nephrol. 2017 Dec 7;12(12):1962-1973. doi: 10.2215/CJN.05660517. Epub 2017 Nov 16.
8. Development of multiorgan pathology in the wpk rat model of polycystic kidney disease. Gattone VH, etal., Anat Rec A Discov Mol Cell Evol Biol. 2004 Apr;277(2):384-95. doi: 10.1002/ar.a.20022.
9. Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online. Khaddour R, etal., Hum Mutat. 2007 May;28(5):523-4.
10. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Leitch CC, etal., Nat Genet. 2008 Apr;40(4):443-8. doi: 10.1038/ng.97. Epub 2008 Mar 9.
11. New rat model that phenotypically resembles autosomal recessive polycystic kidney disease. Nauta J, etal., J Am Soc Nephrol 2000 Dec;11(12):2272-84.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). Otto EA, etal., J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8.
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Polycystic kidney and hepatic disease with mental retardation is nephronophthisis 11 caused by MKS3/TMEM67 mutations. Seeman T, etal., Pediatr Nephrol. 2010 Nov;25(11):2375-6. doi: 10.1007/s00467-010-1591-1. Epub 2010 Jul 6.
18. Hydrocephalus in a rat model of Meckel Gruber syndrome with a TMEM67 mutation. Shim JW, etal., Sci Rep. 2019 Jan 31;9(1):1069. doi: 10.1038/s41598-018-37620-5.
19. The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. Smith UM, etal., Nat Genet. 2006 Feb;38(2):191-6. Epub 2006 Jan 15.
20. Characteristics of Liver Disease in 100 Individuals With Joubert Syndrome Prospectively Evaluated at a Single Center. Strongin A, etal., J Pediatr Gastroenterol Nutr. 2018 Mar;66(3):428-435. doi: 10.1097/MPG.0000000000001816.
21. Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies. Szabó T, etal., Pediatr Nephrol. 2018 Oct;33(10):1713-1721. doi: 10.1007/s00467-018-3992-5. Epub 2018 Jun 28.
22. Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. Szymanska K, etal., Cilia. 2012 Oct 1;1(1):18. doi: 10.1186/2046-2530-1-18.
23. A missense mutation in TMEM67 causes Meckel-Gruber syndrome type 3 (MKS3): a family from China. 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:29891882   PMID:32000717   PMID:32156598   PMID:32814053   PMID:33961781   PMID:34079125   PMID:34731008   PMID:34964473  
PMID:35137054   PMID:35271311   PMID:35563538   PMID:35621037   PMID:35696571   PMID:36334440   PMID:38844949  


Genomics

Comparative Map Data
TMEM67
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38893,754,844 - 93,832,653 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl893,754,844 - 93,819,234 (+)EnsemblGRCh38hg38GRCh38
GRCh37894,767,072 - 94,831,466 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36894,836,321 - 94,898,323 (+)NCBINCBI36Build 36hg18NCBI36
Celera890,953,124 - 91,017,521 (+)NCBICelera
Cytogenetic Map8q22.1NCBI
HuRef889,974,594 - 90,039,048 (+)NCBIHuRef
CHM1_1894,807,348 - 94,871,742 (+)NCBICHM1_1
T2T-CHM13v2.0894,879,829 - 94,957,683 (+)NCBIT2T-CHM13v2.0
Tmem67
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39412,039,355 - 12,090,020 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl412,039,363 - 12,090,020 (-)EnsemblGRCm39 Ensembl
GRCm38412,039,355 - 12,090,020 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl412,039,355 - 12,090,020 (-)EnsemblGRCm38mm10GRCm38
MGSCv37411,966,502 - 12,015,104 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36411,966,792 - 12,015,104 (-)NCBIMGSCv36mm8
Celera411,852,088 - 11,951,004 (-)NCBICelera
Cytogenetic Map4A1NCBI
cM Map45.56NCBI
Tmem67
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8530,333,793 - 30,386,702 (-)NCBIGRCr8
mRatBN7.2525,536,458 - 25,589,378 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl525,536,458 - 25,589,334 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx527,679,863 - 27,732,749 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0529,272,610 - 29,325,491 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0529,217,147 - 29,270,042 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
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 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1-v27111,086,261 - 111,150,985 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1886,624,847 - 86,687,985 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0890,378,623 - 90,442,904 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1892,324,402 - 92,387,437 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl892,324,402 - 92,387,437 (+)Ensemblpanpan1.1panPan2
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 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02938,859,810 - 38,920,095 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2938,859,346 - 38,915,876 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12938,873,675 - 38,933,947 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02938,868,253 - 38,928,540 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02939,309,700 - 39,370,424 (+)NCBIUU_Cfam_GSD_1.0
Tmem67
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530340,860,751 - 40,904,822 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365446,887,532 - 6,932,179 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365446,887,867 - 6,931,669 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMEM67
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl442,879,140 - 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 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl888,726,837 - 88,792,049 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603952,056,457 - 52,122,252 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tmem67
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247631,219,827 - 1,264,071 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247631,219,779 - 1,281,297 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

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Variants in TMEM67
1035 total Variants

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_153704.6(TMEM67):c.870-2A>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_153704.6(TMEM67):c.2315_2322+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_153704.6(TMEM67):c.1575+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 COACH syndrome 1 [RCV000001437]|Familial aplasia of the vermis [RCV001851544]|Joubert syndrome 6 [RCV000001436]|Joubert syndrome and related disorders [RCV004585980] Chr8:93791282 [GRCh38]
Chr8:94803510 [GRCh37]
Chr8:8q22.1		 pathogenic
NM_153704.6(TMEM67):c.2439+5G>C single nucleotide variant Familial aplasia of the vermis [RCV002512641]|Joubert syndrome 6 [RCV000001438] Chr8:93804883 [GRCh38]
Chr8:94817111 [GRCh37]
Chr8:8q22.1		 pathogenic
NM_153704.6(TMEM67):c.651+2T>G single nucleotide variant Familial aplasia of the vermis [RCV001851545]|Joubert syndrome 6 [RCV000001439]|Joubert syndrome and related disorders [RCV002281687]|Meckel syndrome, type 3 [RCV000050199]|not provided [RCV001698938] 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 Familial aplasia of the vermis [RCV002512642] Chr8:93793256 [GRCh38]
Chr8:94805484 [GRCh37]
Chr8:8q22.1		 pathogenic
NM_153704.6(TMEM67):c.1961-2A>C single nucleotide variant COACH syndrome 1 [RCV000001441]|Joubert syndrome 6 [RCV000201576] Chr8:93797329 [GRCh38]
Chr8:94809557 [GRCh37]
Chr8:8q22.1		 pathogenic
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) single nucleotide variant COACH syndrome 1 [RCV002490291]|Familial aplasia of the vermis [RCV000468558]|Inborn genetic diseases [RCV003242959]|Joubert syndrome 6 [RCV000001443]|Joubert syndrome and related disorders [RCV002298428]|Meckel syndrome, type 3 [RCV000001442]|RHYNS syndrome [RCV000723362]|TMEM67-related disorder [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 COACH syndrome 1 [RCV000001445]|COACH syndrome 1 [RCV001536092]|Familial aplasia of the vermis [RCV000821785]|Joubert syndrome 6 [RCV000001446]|Joubert syndrome and related disorders [RCV001804708]|Meckel syndrome, type 3 [RCV000995902]|TMEM67-related disorder [RCV003315221]|not provided [RCV001310635] Chr8:93808898 [GRCh38]
Chr8:94821126 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.2556+1G>T single nucleotide variant COACH syndrome 1 [RCV000001447]|Joubert syndrome 6 [RCV000201565] Chr8:93808957 [GRCh38]
Chr8:94821185 [GRCh37]
Chr8:8q22.1		 pathogenic
NM_153704.6(TMEM67):c.312+5G>A single nucleotide variant COACH syndrome 1 [RCV000001448]|COACH syndrome 1 [RCV002496229]|Familial aplasia of the vermis [RCV001388801] Chr8:93755871 [GRCh38]
Chr8:94768099 [GRCh37]
Chr8:8q22.1		 pathogenic
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) single nucleotide variant COACH syndrome 1 [RCV000001449]|Familial aplasia of the vermis [RCV001851546]|Joubert syndrome 6 [RCV000201677]|not provided [RCV001781164] 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 COACH syndrome 1 [RCV000763610]|Congenital ocular coloboma [RCV000627004]|Familial aplasia of the vermis [RCV000415055]|Familial aplasia of the vermis [RCV000534533]|Inborn genetic diseases [RCV000623857]|Joubert syndrome 6 [RCV000001452]|Nephronophthisis 11 [RCV000001451]|Nephronophthisis [RCV000234823]|RHYNS syndrome [RCV001197497]|TMEM67-related disorder [RCV000283682]|not provided [RCV000479077] Chr8:93795970 [GRCh38]
Chr8:94808198 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
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 Familial aplasia of the vermis [RCV001851547]|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 COACH syndrome 1 [RCV002490292]|Familial aplasia of the vermis [RCV001389251]|Joubert syndrome 6 [RCV000001457]|Joubert syndrome and related disorders [RCV004689399]|Nephronophthisis [RCV000234813]|not provided [RCV000418247] Chr8:93780633 [GRCh38]
Chr8:94792861 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic|not provided
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 COACH syndrome 1 [RCV002476130]|Familial aplasia of the vermis [RCV000542172]|Joubert syndrome 6 [RCV002245001]|not specified [RCV003488671] Chr8:93765633 [GRCh38]
Chr8:94777861 [GRCh37]
Chr8:8q22.1		 likely pathogenic|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 Familial aplasia of the vermis [RCV002535098]|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 COACH syndrome 1 [RCV001333011]|COACH syndrome 1 [RCV002476053]|Familial aplasia of the vermis [RCV001857955]|Joubert syndrome 6 [RCV001165119]|Meckel syndrome, type 3 [RCV001165120]|Nephronophthisis 11 [RCV001165118]|RHYNS syndrome [RCV001198569]|not provided [RCV000519954]|not specified [RCV001797744] 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]|COACH syndrome 1 [RCV001333012]|Familial aplasia of the vermis [RCV001085857]|Joubert syndrome 6 [RCV001158404]|Meckel syndrome, type 3 [RCV001158405]|Nephronophthisis 11 [RCV001158406]|Nephronophthisis [RCV000234830]|RHYNS syndrome [RCV001198570]|TMEM67-related disorder [RCV004528064]|not provided [RCV000725926]|not specified [RCV003488318] Chr8:93780962 [GRCh38]
Chr8:94793190 [GRCh37]
Chr8:8q22.1		 risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser) single nucleotide variant COACH syndrome 1 [RCV002477175]|Familial aplasia of the vermis [RCV000560903]|Joubert syndrome 6 [RCV000201777]|Meckel syndrome, type 3 [RCV000050175]|Meckel-Gruber syndrome [RCV000114240]|TMEM67-related disorder [RCV000778866]|not provided [RCV001267954] Chr8:93781725 [GRCh38]
Chr8:94793953 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.1288+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 Familial aplasia of the vermis [RCV000200297]|Meckel syndrome, type 3 [RCV001161604]|not provided [RCV001719853]|not specified [RCV000114242] Chr8:93786243 [GRCh38]
Chr8:94798471 [GRCh37]
Chr8:8q22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153704.6(TMEM67):c.1774-45A>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 COACH syndrome 1 [RCV001838547]|Familial aplasia of the vermis [RCV000860134]|Joubert syndrome 6 [RCV000278248]|Meckel syndrome, type 3 [RCV000323495]|Nephronophthisis 11 [RCV000378100]|not provided [RCV001618263]|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 Familial aplasia of the vermis [RCV001079645]|Joubert syndrome 6 [RCV001163245]|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_153704.6(TMEM67):c.224-4_224-3del deletion TMEM67-related disorder [RCV004542808]|not specified [RCV000114246] Chr8:93755752..93755753 [GRCh38]
Chr8:94767980..94767981 [GRCh37]
Chr8:8q22.1		 benign|likely benign
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) single nucleotide variant Bardet-Biedl syndrome 14 [RCV000585745]|COACH syndrome 1 [RCV002477265]|Familial aplasia of the vermis [RCV000205181]|Joubert syndrome 6 [RCV001158619]|Kidney disorder [RCV002294034]|Meckel syndrome, type 3 [RCV001158617]|Nephronophthisis 11 [RCV001158618]|not provided [RCV001650942]|not specified [RCV000114247] Chr8:93804836 [GRCh38]
Chr8:94817064 [GRCh37]
Chr8:8q22.1		 benign|likely benign|uncertain significance
NM_153704.6(TMEM67):c.406+1361C>T 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 Familial aplasia of the vermis [RCV002514565]|Meckel-Gruber syndrome [RCV000114249] Chr8:93780626 [GRCh38]
Chr8:94792854 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) single nucleotide variant COACH syndrome 1 [RCV002490759]|Familial aplasia of the vermis [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_153704.6(TMEM67):c.870-29A>G single nucleotide variant not provided [RCV001682799]|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 Familial aplasia of the vermis [RCV001853069]|Joubert syndrome and related disorders [RCV001804788]|Meckel syndrome, type 3 [RCV000050177]|not provided [RCV000430117] Chr8:93786253 [GRCh38]
Chr8:94798481 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.1322G>T (p.Arg441Leu) single nucleotide variant Familial aplasia of the vermis [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_153704.6(TMEM67):c.1413-1G>C single nucleotide variant Familial aplasia of the vermis [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_153704.6(TMEM67):c.224-2del deletion COACH syndrome 1 [RCV002496728]|Familial aplasia of the vermis [RCV003764723]|Meckel syndrome, type 3 [RCV000050184] Chr8:93755776 [GRCh38]
Chr8:94768004 [GRCh37]
Chr8:8q22.1		 pathogenic|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_153704.6(TMEM67):c.2322+2dup duplication Familial aplasia of the vermis [RCV001853070]|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 Familial aplasia of the vermis [RCV002514270]|Meckel syndrome, type 3 [RCV000050187]|not provided [RCV000393971] Chr8:93804796 [GRCh38]
Chr8:94817024 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.2528A>G (p.Tyr843Cys) single nucleotide variant Meckel syndrome, type 3 [RCV000050188]|TMEM67-related disorder [RCV004537237] Chr8:93808928 [GRCh38]
Chr8:94821156 [GRCh37]
Chr8:8q22.1		 likely pathogenic|uncertain significance
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 Familial aplasia of the vermis [RCV002514271]|Meckel syndrome, type 3 [RCV000050195] Chr8:93758557 [GRCh38]
Chr8:94770785 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs) deletion Familial aplasia of the vermis [RCV000636962]|Joubert syndrome 6 [RCV000194151]|Joubert syndrome and related disorders [RCV003478992]|Meckel syndrome, type 3 [RCV000050196]|TMEM67-related disorder [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 Familial aplasia of the vermis [RCV001853071]|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 Familial aplasia of the vermis [RCV002514272]|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_153704.6(TMEM67):c.1066-3C>T single nucleotide variant COACH syndrome 1 [RCV001838546]|Familial aplasia of the vermis [RCV000860133]|Joubert syndrome 6 [RCV000364741]|Meckel syndrome, type 3 [RCV000310098]|Nephronophthisis 11 [RCV000397297]|not provided [RCV001682790]|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 Familial aplasia of the vermis [RCV000471831]|Joubert syndrome 6 [RCV000290988]|Meckel syndrome, type 3 [RCV000327495]|Nephronophthisis 11 [RCV000376078]|not provided [RCV001682791]|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_153704.6(TMEM67):c.1413-2A>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.651+2T>C single nucleotide variant Enlarged kidney [RCV001807679] Chr8:93765648 [GRCh38]
Chr8:94777876 [GRCh37]
Chr8:8q22.1		 likely pathogenic
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) single nucleotide variant COACH syndrome 1 [RCV002485119]|Familial aplasia of the vermis [RCV000860917]|Joubert syndrome 1 [RCV000988093]|TMEM67-related disorder [RCV004539599]|not provided [RCV001704249]|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 Familial aplasia of the vermis [RCV001409831]|Joubert syndrome 1 [RCV000988094]|TMEM67-related disorder [RCV004539607]|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 COACH syndrome 1 [RCV002478718]|Familial aplasia of the vermis [RCV000636949]|Joubert syndrome 6 [RCV000201528]|not provided [RCV000419395] Chr8:93782444 [GRCh38]
Chr8:94794672 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.2661+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 Familial aplasia of the vermis [RCV003765306]|Joubert syndrome 6 [RCV000201553]|not provided [RCV000435911] Chr8:93755799 [GRCh38]
Chr8:94768027 [GRCh37]
Chr8:8q22.1		 pathogenic|conflicting interpretations of pathogenicity
NM_153704.6(TMEM67):c.1674+3A>G single nucleotide variant Familial aplasia of the vermis [RCV002517315]|Joubert syndrome 6 [RCV000201579] Chr8:93793299 [GRCh38]
Chr8:94805527 [GRCh37]
Chr8:8q22.1		 pathogenic|uncertain significance
NM_153704.6(TMEM67):c.1073C>T (p.Pro358Leu) single nucleotide variant Joubert syndrome 6 [RCV000201590]|TMEM67-related disorder [RCV004528990] Chr8:93782402 [GRCh38]
Chr8:94794630 [GRCh37]
Chr8:8q22.1		 pathogenic|likely 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 COACH syndrome 1 [RCV002503793]|Familial aplasia of the vermis [RCV002515477]|Joubert syndrome 6 [RCV000201592]|not provided [RCV003128594] Chr8:93803652 [GRCh38]
Chr8:94815880 [GRCh37]
Chr8:8q22.1		 pathogenic
NM_153704.6(TMEM67):c.2132A>C (p.Asp711Ala) single nucleotide variant Familial aplasia of the vermis [RCV003765092]|not provided [RCV000176240]|not specified [RCV003230435] Chr8:93799649 [GRCh38]
Chr8:94811877 [GRCh37]
Chr8:8q22.1		 pathogenic|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 Familial aplasia of the vermis [RCV003765239]|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_153704.6(TMEM67):c.1674+5A>T single nucleotide variant Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV000196386]|Joubert syndrome 6 [RCV000339372]|Meckel syndrome, type 3 [RCV000291370]|Nephronophthisis 11 [RCV000377674]|not provided [RCV001705157]|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 Abnormality of the nervous system [RCV001814102]|COACH syndrome 1 [RCV002283466]|Familial aplasia of the vermis [RCV000198666]|Inborn genetic diseases [RCV000624166]|Joubert syndrome 6 [RCV000201726]|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 Familial aplasia of the vermis [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]|not specified [RCV001804937] Chr8:93808922 [GRCh38]
Chr8:94821150 [GRCh37]
Chr8:8q22.1		 pathogenic|uncertain significance
NM_153704.6(TMEM67):c.769A>G (p.Met257Val) single nucleotide variant COACH syndrome 1 [RCV002500631]|Familial aplasia of the vermis [RCV002517316]|Joubert syndrome 6 [RCV000201614] Chr8:93780647 [GRCh38]
Chr8:94792875 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.2322+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]|not specified [RCV003330578] Chr8:93755798 [GRCh38]
Chr8:94768026 [GRCh37]
Chr8:8q22.1		 pathogenic|uncertain significance
NM_153704.6(TMEM67):c.2086C>T (p.Leu696Phe) single nucleotide variant Familial aplasia of the vermis [RCV001307480]|Joubert syndrome 6 [RCV000201654]|Meckel syndrome, type 3 [RCV001161723]|Nephronophthisis 11 [RCV001163244]|not specified [RCV001804938] 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 Familial aplasia of the vermis [RCV001853242]|Joubert syndrome 6 [RCV000201683]|not specified [RCV002222442] Chr8:93765414 [GRCh38]
Chr8:94777642 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.1351C>T (p.Arg451Ter) single nucleotide variant Familial aplasia of the vermis [RCV001853243]|Joubert syndrome 6 [RCV000201701]|not provided [RCV001536330] Chr8:93786285 [GRCh38]
Chr8:94798513 [GRCh37]
Chr8:8q22.1		 pathogenic
NM_153704.6(TMEM67):c.978+3A>G single nucleotide variant Familial aplasia of the vermis [RCV001853241]|Joubert syndrome 6 [RCV000201705] Chr8:93780985 [GRCh38]
Chr8:94793213 [GRCh37]
Chr8:8q22.1		 pathogenic|uncertain significance
NM_153704.6(TMEM67):c.300C>A (p.Cys100Ter) single nucleotide variant COACH syndrome 1 [RCV002500632]|Familial aplasia of the vermis [RCV003765305]|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]|not provided [RCV001753605] Chr8:93815365 [GRCh38]
Chr8:94827593 [GRCh37]
Chr8:8q22.1		 pathogenic|uncertain significance
NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys) single nucleotide variant COACH syndrome 1 [RCV000763609]|Congenital ocular coloboma [RCV000627003]|Familial aplasia of the vermis [RCV000414925]|Familial aplasia of the vermis [RCV001853244]|Inborn genetic diseases [RCV000623940]|Joubert syndrome 6 [RCV000201784]|Meckel syndrome, type 3 [RCV003997037] Chr8:93786255 [GRCh38]
Chr8:94798483 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.934T>C (p.Ser312Pro) single nucleotide variant Familial aplasia of the vermis [RCV000204544] Chr8:93780938 [GRCh38]
Chr8:94793166 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg) single nucleotide variant Familial aplasia of the vermis [RCV000204053]|Nephronophthisis 11 [RCV001281327] Chr8:93765416 [GRCh38]
Chr8:94777644 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic|uncertain significance
NM_001142301.1(TMEM67):c.2522-6del deletion Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV000232047] Chr8:93809848 [GRCh38]
Chr8:94822076 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) single nucleotide variant Familial aplasia of the vermis [RCV001087450]|Joubert syndrome 6 [RCV001163249]|Kidney disorder [RCV002294093]|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|not provided
NM_153704.6(TMEM67):c.652-18G>A single nucleotide variant Familial aplasia of the vermis [RCV002108804] Chr8:93772571 [GRCh38]
Chr8:94784799 [GRCh37]
Chr8:8q22.1		 likely benign
NM_153704.6(TMEM67):c.506+18G>T single nucleotide variant COACH syndrome 1 [RCV002494777]|Familial aplasia of the vermis [RCV001522607]|not provided [RCV000513995]|not specified [RCV000243625] Chr8:93763959 [GRCh38]
Chr8:94776187 [GRCh37]
Chr8:8q22.1		 benign|likely benign
NM_153704.6(TMEM67):c.978+13A>G single nucleotide variant Familial aplasia of the vermis [RCV002058429]|not specified [RCV000245999] Chr8:93780995 [GRCh38]
Chr8:94793223 [GRCh37]
Chr8:8q22.1		 likely benign
NM_153704.6(TMEM67):c.312+30C>G single nucleotide variant not provided [RCV001574425]|not specified [RCV000248711] Chr8:93755896 [GRCh38]
Chr8:94768124 [GRCh37]
Chr8:8q22.1		 benign|likely benign
NM_153704.6(TMEM67):c.870-30C>T single nucleotide variant not provided [RCV001589292]|not specified [RCV000251051] Chr8:93780844 [GRCh38]
Chr8:94793072 [GRCh37]
Chr8:8q22.1		 benign|likely benign
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) single nucleotide variant Familial aplasia of the vermis [RCV000549204]|Joubert syndrome 6 [RCV001168637]|Meckel syndrome, type 3 [RCV001168639]|Nephronophthisis 11 [RCV001168638]|not provided [RCV001651278]|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 Familial aplasia of the vermis [RCV000636980]|Joubert syndrome 6 [RCV000274744]|Meckel syndrome, type 3 [RCV000332073]|Nephronophthisis 11 [RCV000388990]|not provided [RCV001727663]|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]|TMEM67-related disorder [RCV004529451]|not provided [RCV001689942] Chr8:93754889 [GRCh38]
Chr8:94767117 [GRCh37]
Chr8:8q22.1		 benign|likely benign
NM_153704.6(TMEM67):c.313-13dup duplication COACH syndrome 1 [RCV002494776]|not provided [RCV001722364]|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 provided [RCV001640582]|not specified [RCV000244490] Chr8:93816471 [GRCh38]
Chr8:94828699 [GRCh37]
Chr8:8q22.1		 benign|likely benign
NM_153704.6(TMEM67):c.2908-43C>T single nucleotide variant not provided [RCV000835282]|not specified [RCV000252141] Chr8:93816329 [GRCh38]
Chr8:94828557 [GRCh37]
Chr8:8q22.1		 benign|likely benign
NM_153704.6(TMEM67):c.869+9A>G single nucleotide variant Familial aplasia of the vermis [RCV000861716]|Joubert syndrome 6 [RCV000304460]|Meckel syndrome, type 3 [RCV000405231]|Nephronophthisis 11 [RCV000340533]|not provided [RCV001727664]|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 Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV001394370]|not provided [RCV000867942]|not specified [RCV000244943] Chr8:93780595 [GRCh38]
Chr8:94792823 [GRCh37]
Chr8:8q22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153704.6(TMEM67):c.2661+3A>G single nucleotide variant Familial aplasia of the vermis [RCV002518662]|not provided [RCV003225056]|not specified [RCV000242600] Chr8:93809164 [GRCh38]
Chr8:94821392 [GRCh37]
Chr8:8q22.1		 likely benign|uncertain significance
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=) single nucleotide variant Familial aplasia of the vermis [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 Familial aplasia of the vermis [RCV002518661]|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 Familial aplasia of the vermis [RCV001455464]|Joubert syndrome 6 [RCV000314366]|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_153704.6(TMEM67):c.1518+18T>C single nucleotide variant Familial aplasia of the vermis [RCV001515049]|not provided [RCV001597028]|not specified [RCV000245498] Chr8:93787967 [GRCh38]
Chr8:94800195 [GRCh37]
Chr8:8q22.1		 benign
NM_153704.6(TMEM67):c.506+48G>A single nucleotide variant not provided [RCV000835279]|not specified [RCV000248388] Chr8:93763989 [GRCh38]
Chr8:94776217 [GRCh37]
Chr8:8q22.1		 benign|likely benign
NM_153704.6(TMEM67):c.507-19T>C single nucleotide variant COACH syndrome 1 [RCV002503951]|Familial aplasia of the vermis [RCV001511602]|not provided [RCV000514551]|not specified [RCV000253155] Chr8:93765387 [GRCh38]
Chr8:94777615 [GRCh37]
Chr8:8q22.1		 benign|likely benign
NM_153704.6(TMEM67):c.2570C>G (p.Ala857Gly) single nucleotide variant Joubert syndrome 6 [RCV000266414]|Meckel syndrome, type 3 [RCV000361919]|Nephronophthisis 11 [RCV000321504] Chr8:93809070 [GRCh38]
Chr8:94821298 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.2556+4T>G single nucleotide variant Familial aplasia of the vermis [RCV000690949]|Joubert syndrome 6 [RCV000369064]|Meckel syndrome, type 3 [RCV000301453]|Nephronophthisis 11 [RCV000395278]|not provided [RCV002223205]|not specified [RCV004701451] Chr8:93808960 [GRCh38]
Chr8:94821188 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.863C>A (p.Ser288Ter) single nucleotide variant COACH syndrome 1 [RCV002487195]|Familial aplasia of the vermis [RCV002518850]|not provided [RCV000400090] Chr8:93780741 [GRCh38]
Chr8:94792969 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.29C>T (p.Ala10Val) single nucleotide variant COACH syndrome 1 [RCV002488815]|Familial aplasia of the vermis [RCV002523703]|Joubert syndrome 6 [RCV000341063]|Meckel syndrome, type 3 [RCV000397407]|Nephronophthisis 11 [RCV000302454] Chr8:93754943 [GRCh38]
Chr8:94767171 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_001142301.1(TMEM67):c.-207del deletion Familial aplasia of the vermis [RCV000289622]|Meckel-Gruber syndrome [RCV000381796]|Nephronophthisis [RCV000346977]|TMEM67-related disorder [RCV004544704]|not specified [RCV000601083] Chr8:93754877 [GRCh38]
Chr8:94767105 [GRCh37]
Chr8:8q22.1		 likely benign|uncertain significance
NM_153704.6(TMEM67):c.1446C>T (p.Asn482=) single nucleotide variant Familial aplasia of the vermis [RCV000872573]|Joubert syndrome 6 [RCV000370373]|Meckel syndrome, type 3 [RCV000306665]|Nephronophthisis 11 [RCV000270206] Chr8:93787877 [GRCh38]
Chr8:94800105 [GRCh37]
Chr8:8q22.1		 likely benign|uncertain significance
NM_153704.6(TMEM67):c.2924G>A (p.Arg975His) single nucleotide variant Familial aplasia of the vermis [RCV001861333]|Joubert syndrome 6 [RCV000382096]|Meckel syndrome, type 3 [RCV000351936]|Nephronophthisis 11 [RCV000287697] Chr8:93816388 [GRCh38]
Chr8:94828616 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.1700A>C (p.Tyr567Ser) single nucleotide variant Joubert syndrome 6 [RCV000318190]|Meckel syndrome, type 3 [RCV000262960]|Nephronophthisis 11 [RCV000372722] Chr8:93795434 [GRCh38]
Chr8:94807662 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.*941T>C single nucleotide variant Joubert syndrome 6 [RCV000342667]|Meckel syndrome, type 3 [RCV000278183]|Nephronophthisis 11 [RCV000404988] Chr8:93817393 [GRCh38]
Chr8:94829621 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.*852C>T single nucleotide variant Joubert syndrome 6 [RCV000330875]|Meckel syndrome, type 3 [RCV000385364]|Nephronophthisis 11 [RCV000276127] Chr8:93817304 [GRCh38]
Chr8:94829532 [GRCh37]
Chr8:8q22.1		 benign|likely benign|uncertain significance
NM_153704.6(TMEM67):c.137C>T (p.Pro46Leu) single nucleotide variant Familial aplasia of the vermis [RCV002524577]|Joubert syndrome 6 [RCV000326350]|Meckel syndrome, type 3 [RCV000268976]|Nephronophthisis 11 [RCV000383394] Chr8:93755051 [GRCh38]
Chr8:94767279 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.2299G>A (p.Val767Ile) single nucleotide variant COACH syndrome 1 [RCV001334627]|COACH syndrome 1 [RCV002481247]|Ciliopathy [RCV002272216]|Familial aplasia of the vermis [RCV001296712]|Inborn genetic diseases [RCV004022084]|Joubert syndrome 6 [RCV000348098]|Meckel syndrome, type 3 [RCV000289258]|Nephronophthisis 11 [RCV000405776] Chr8:93803661 [GRCh38]
Chr8:94815889 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.*1653G>A single nucleotide variant Joubert syndrome 6 [RCV000275563]|Meckel syndrome, type 3 [RCV000369709]|Nephronophthisis 11 [RCV000315007] Chr8:93818105 [GRCh38]
Chr8:94830333 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.*853G>A single nucleotide variant Joubert syndrome 6 [RCV000281572]|Meckel syndrome, type 3 [RCV000372808]|Nephronophthisis 11 [RCV000336633] Chr8:93817305 [GRCh38]
Chr8:94829533 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.2928T>C (p.Asn976=) single nucleotide variant Familial aplasia of the vermis [RCV002058749]|Joubert syndrome 6 [RCV000293650]|Meckel syndrome, type 3 [RCV000348602]|Nephronophthisis 11 [RCV000390789] Chr8:93816392 [GRCh38]
Chr8:94828620 [GRCh37]
Chr8:8q22.1		 likely benign|uncertain significance
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) single nucleotide variant Familial aplasia of the vermis [RCV002058748]|Inborn genetic diseases [RCV002523705]|Joubert syndrome 6 [RCV000330820]|Meckel syndrome, type 3 [RCV000275749]|Nephronophthisis 11 [RCV000366747] Chr8:93787942 [GRCh38]
Chr8:94800170 [GRCh37]
Chr8:8q22.1		 benign|likely benign|uncertain significance
NM_153704.6(TMEM67):c.*300G>A single nucleotide variant Joubert syndrome 6 [RCV000325228]|Meckel syndrome, type 3 [RCV000389176]|Nephronophthisis 11 [RCV000270141] Chr8:93816752 [GRCh38]
Chr8:94828980 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.370G>A (p.Glu124Lys) single nucleotide variant Familial aplasia of the vermis [RCV001859598]|Inborn genetic diseases [RCV000622377]|Joubert syndrome and related disorders [RCV004586658]|not provided [RCV000373992] Chr8:93758540 [GRCh38]
Chr8:94770768 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val) single nucleotide variant Familial aplasia of the vermis [RCV001501683]|not provided [RCV000344452] Chr8:93755021 [GRCh38]
Chr8:94767249 [GRCh37]
Chr8:8q22.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153704.6(TMEM67):c.2556+5G>C single nucleotide variant Joubert syndrome 6 [RCV000261278]|Meckel syndrome, type 3 [RCV000316551]|Nephronophthisis 11 [RCV000356120] Chr8:93808961 [GRCh38]
Chr8:94821189 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.119CTTTCC[3] (p.Pro42_Phe43dup) microsatellite Familial aplasia of the vermis [RCV000367005]|Familial aplasia of the vermis [RCV002523704]|Meckel-Gruber syndrome [RCV000300363]|Nephronophthisis [RCV000261591] Chr8:93755032..93755033 [GRCh38]
Chr8:94767260..94767261 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) single nucleotide variant Familial aplasia of the vermis [RCV001087787]|Joubert syndrome 6 [RCV001163031]|Meckel syndrome, type 3 [RCV001163030]|Nephronophthisis 11 [RCV001163029]|not provided [RCV000384341]|not specified [RCV001699422] Chr8:93758539 [GRCh38]
Chr8:94770767 [GRCh37]
Chr8:8q22.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_153704.6(TMEM67):c.224-5_224-3del deletion not specified [RCV000283497] Chr8:93755752..93755754 [GRCh38]
Chr8:94768001..94768003 [GRCh37]
Chr8:8q22.1		 benign
NM_153704.6(TMEM67):c.*218T>C single nucleotide variant Joubert syndrome 6 [RCV000264369]|Meckel syndrome, type 3 [RCV000310285]|Nephronophthisis 11 [RCV000364910] Chr8:93816670 [GRCh38]
Chr8:94828898 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.1700A>G (p.Tyr567Cys) single nucleotide variant Familial aplasia of the vermis [RCV000702895]|Intellectual disability [RCV001252367]|not provided [RCV000262993] Chr8:93795434 [GRCh38]
Chr8:94807662 [GRCh37]
Chr8:8q22.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_153704.6(TMEM67):c.*1434T>C single nucleotide variant Joubert syndrome 6 [RCV000309312]|Meckel syndrome, type 3 [RCV000363967]|Nephronophthisis 11 [RCV000269347] Chr8:93817886 [GRCh38]
Chr8:94830114 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.1575+5G>A single nucleotide variant Joubert syndrome 6 [RCV000590124]|not specified [RCV002282247] Chr8:93791324 [GRCh38]
Chr8:94803552 [GRCh37]
Chr8:8q22.1		 likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.1122C>A (p.Tyr374Ter) single nucleotide variant not provided [RCV000722377] Chr8:93782451 [GRCh38]
Chr8:94794679 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.1353del (p.Glu452fs) deletion Bardet-Biedl syndrome [RCV000490354]|Familial aplasia of the vermis [RCV003765357]|Meckel syndrome, type 3 [RCV003997697] Chr8:93786287 [GRCh38]
Chr8:94798515 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.2756T>A (p.Phe919Tyr) single nucleotide variant Joubert syndrome 6 [RCV003314482] Chr8:93809879 [GRCh38]
Chr8:94822107 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.*942G>A single nucleotide variant Joubert syndrome 6 [RCV000303605]|Meckel syndrome, type 3 [RCV000339861]|Nephronophthisis 11 [RCV000397175] Chr8:93817394 [GRCh38]
Chr8:94829622 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.1421T>C (p.Leu474Pro) single nucleotide variant Joubert syndrome 6 [RCV000587826] Chr8:93787852 [GRCh38]
Chr8:94800080 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.511G>A (p.Val171Ile) single nucleotide variant Familial aplasia of the vermis [RCV000527602]|Joubert syndrome 6 [RCV001420616]|not provided [RCV000999054] Chr8:93765410 [GRCh38]
Chr8:94777638 [GRCh37]
Chr8:8q22.1		 likely benign|uncertain significance
NM_153704.6(TMEM67):c.*179T>C single nucleotide variant Joubert syndrome 6 [RCV000396652]|Meckel syndrome, type 3 [RCV000305703]|Nephronophthisis 11 [RCV000359170] Chr8:93816631 [GRCh38]
Chr8:94828859 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.77T>C (p.Leu26Pro) single nucleotide variant Joubert syndrome 6 [RCV000354267]|Meckel syndrome, type 3 [RCV000297014]|Nephronophthisis 11 [RCV000397415] Chr8:93754991 [GRCh38]
Chr8:94767219 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.2975G>T (p.Arg992Ile) single nucleotide variant Joubert syndrome 6 [RCV000396661]|Meckel syndrome, type 3 [RCV000299915]|Nephronophthisis 11 [RCV000354720] Chr8:93816439 [GRCh38]
Chr8:94828667 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.2009C>T (p.Thr670Ile) single nucleotide variant COACH syndrome 1 [RCV001333010]|COACH syndrome 1 [RCV002476285]|Familial aplasia of the vermis [RCV001208674]|not provided [RCV000591997] Chr8:93797379 [GRCh38]
Chr8:94809607 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.2410G>T (p.Glu804Ter) single nucleotide variant COACH syndrome 1 [RCV001536094]|not provided [RCV000592458] Chr8:93804849 [GRCh38]
Chr8:94817077 [GRCh37]
Chr8:8q22.1		 pathogenic
NM_153704.6(TMEM67):c.2779T>C (p.Phe927Leu) single nucleotide variant Joubert syndrome 6 [RCV000590165] Chr8:93815319 [GRCh38]
Chr8:94827547 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.385del (p.Cys129fs) deletion not provided [RCV000599352] Chr8:93758555 [GRCh38]
Chr8:94770783 [GRCh37]
Chr8:8q22.1		 pathogenic
NM_153704.6(TMEM67):c.1131+19A>C single nucleotide variant Familial aplasia of the vermis [RCV002063896]|not provided [RCV001697500] Chr8:93782479 [GRCh38]
Chr8:94794707 [GRCh37]
Chr8:8q22.1		 likely benign
NM_153704.6(TMEM67):c.185G>A (p.Cys62Tyr) single nucleotide variant not provided [RCV000722599] Chr8:93755099 [GRCh38]
Chr8:94767327 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.1676C>T (p.Thr559Ile) single nucleotide variant not provided [RCV000722225] Chr8:93795410 [GRCh38]
Chr8:94807638 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.50T>A (p.Leu17Ter) single nucleotide variant Familial aplasia of the vermis [RCV003768227]|Joubert syndrome and related disorders [RCV004586909]|not provided [RCV000732837] Chr8:93754964 [GRCh38]
Chr8:94767192 [GRCh37]
Chr8:8q22.1		 pathogenic|likely 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
NM_153704.6(TMEM67):c.2890A>G (p.Thr964Ala) single nucleotide variant not provided [RCV000722812] Chr8:93815430 [GRCh38]
Chr8:94827658 [GRCh37]
Chr8:8q22.1		 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_153704.6(TMEM67):c.652-16A>G single nucleotide variant Familial aplasia of the vermis [RCV002521714]|not specified [RCV000430880] Chr8:93772573 [GRCh38]
Chr8:94784801 [GRCh37]
Chr8:8q22.1		 likely benign
NM_153704.6(TMEM67):c.1288+15C>T single nucleotide variant COACH syndrome 1 [RCV002481323]|Familial aplasia of the vermis [RCV002063400]|not specified [RCV000435169] Chr8:93785393 [GRCh38]
Chr8:94797621 [GRCh37]
Chr8:8q22.1		 likely benign
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met) single nucleotide variant Familial aplasia of the vermis [RCV001851095]|Joubert syndrome 6 [RCV000984518]|not provided [RCV000429127]|not specified [RCV002248661] Chr8:93815388 [GRCh38]
Chr8:94827616 [GRCh37]
Chr8:8q22.1		 likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.1351C>A (p.Arg451=) single nucleotide variant not specified [RCV000429502] Chr8:93786285 [GRCh38]
Chr8:94798513 [GRCh37]
Chr8:8q22.1		 likely benign
NM_153704.6(TMEM67):c.2314_2322+4delinsGG indel Familial aplasia of the vermis [RCV000458928] Chr8:93803676..93803688 [GRCh38]
Chr8:94815904..94815916 [GRCh37]
Chr8:8q22.1		 pathogenic
NM_153704.6(TMEM67):c.887G>A (p.Trp296Ter) single nucleotide variant not provided [RCV000481358] Chr8:93780891 [GRCh38]
Chr8:94793119 [GRCh37]
Chr8:8q22.1		 pathogenic
NM_153704.6(TMEM67):c.224G>A (p.Gly75Glu) single nucleotide variant COACH syndrome 1 [RCV002475886]|Familial aplasia of the vermis [RCV000472800]|Inborn genetic diseases [RCV002525618] Chr8:93755778 [GRCh38]
Chr8:94768006 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.2601del (p.Phe867fs) deletion not provided [RCV000480379] Chr8:93809098 [GRCh38]
Chr8:94821326 [GRCh37]
Chr8:8q22.1		 likely pathogenic
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
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
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
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_153704.6(TMEM67):c.1714G>A (p.Ala572Thr) single nucleotide variant Familial aplasia of the vermis [RCV001855314]|Inborn genetic diseases [RCV000624890]|Joubert syndrome 6 [RCV000680126]|not specified [RCV001821759] Chr8:93795448 [GRCh38]
Chr8:94807676 [GRCh37]
Chr8:8q22.1		 likely pathogenic|uncertain significance
NM_153704.6(TMEM67):c.1774-6_1774-3inv inversion Familial aplasia of the vermis [RCV000636956] Chr8:93795895..93795898 [GRCh38]
Chr8:94808123..94808126 [GRCh37]
Chr8:8q22.1		 likely pathogenic
NM_153704.6(TMEM67):c.1645C>T (p.Arg549Cys) single nucleotide variant Familial aplasia of the vermis [RCV000636959]|Joubert syndrome and related disorders [RCV001779030]|Meckel syndrome, type 3 [RCV003338698]|not provided [RCV001591420] Chr8:93793267 [GRCh38]
Chr8:94805495 [GRCh37]
Chr8:8q22.1		 pathogenic|uncertain significance
NM_153704.6(TMEM67):c.347C>T (p.Ser116Phe) single nucleotide variant not provided [RCV000594698] Chr8:93758517 [GRCh38]
Chr8:94770745 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.-4T>G single nucleotide variant not specified [RCV000610144] Chr8:93754911 [GRCh38]
Chr8:94767139 [GRCh37]
Chr8:8q22.1		 likely benign
NM_153704.6(TMEM67):c.506+18G>A single nucleotide variant not specified [RCV000608011] Chr8:93763959 [GRCh38]
Chr8:94776187 [GRCh37]
Chr8:8q22.1		 likely benign
NM_001142301.1(TMEM67):c.-207G>A single nucleotide variant not specified [RCV000614833] Chr8:93754882 [GRCh38]
Chr8:94767110 [GRCh37]
Chr8:8q22.1		 likely benign
GRCh37/hg19 8q22.1(chr8:93391781-96572606)x1 copy number loss See cases [RCV000512300] Chr8:93391781..96572606 [GRCh37]
Chr8:8q22.1		 likely pathogenic
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) single nucleotide variant COACH syndrome 1 [RCV002506454]|Familial aplasia of the vermis [RCV001860256]|Iris coloboma [RCV000627005]|Meckel syndrome, type 3 [RCV003236585]|Meckel-Gruber syndrome [RCV000613872] Chr8:93765413 [GRCh38]
Chr8:94777641 [GRCh37]
Chr8:8q22.1		 pathogenic|likely pathogenic
NM_153704.6(TMEM67):c.439C>T (p.Gln147Ter) single nucleotide variant COACH syndrome 1 [RCV000655938] Chr8:93763874 [GRCh38]
Chr8:94776102 [GRCh37]
Chr8:8q22.1		 pathogenic
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_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3]) duplication Iris coloboma [RCV000627002] Chr8:93804851..93804852 [GRCh38]
Chr8:94817079..94817080 [GRCh37]
Chr8:8q22.1		 likely pathogenic
NM_153704.6(TMEM67):c.114C>T (p.Thr38=) single nucleotide variant Familial aplasia of the vermis [RCV003790780] Chr8:93755028 [GRCh38]
Chr8:94767256 [GRCh37]
Chr8:8q22.1		 likely benign
NM_153704.6(TMEM67):c.233G>A (p.Cys78Tyr) single nucleotide variant Familial aplasia of the vermis [RCV003768037]|Meckel syndrome, type 3 [RCV000680128] Chr8:93755787 [GRCh38]
Chr8:94768015 [GRCh37]
Chr8:8q22.1		 pathogenic|uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3		 pathogenic
NM_153704.6(TMEM67):c.443C>A (p.Ala148Glu) single nucleotide variant Familial aplasia of the vermis [RCV000692698] Chr8:93763878 [GRCh38]
Chr8:94776106 [GRCh37]
Chr8:8q22.1		 uncertain significance
NM_153704.6(TMEM67):c.1961-7T>A