BBS10
MCID: BRD011
MIFTS: 44

Bardet-Biedl Syndrome 10 (BBS10)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Bardet-Biedl Syndrome 10

MalaCards integrated aliases for Bardet-Biedl Syndrome 10:

Name: Bardet-Biedl Syndrome 10 58 12 54 76 30 6 17 74
Bbs10 58 12 54 76
Bardet-Biedl Syndrome 54 74
Bardet-Biedl Syndrome, Type 10 41
Bbs 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
severe phenotype


HPO:

33
bardet-biedl syndrome 10:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bardet-Biedl Syndrome 10

UniProtKB/Swiss-Prot : 76 Bardet-Biedl syndrome 10: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.

MalaCards based summary : Bardet-Biedl Syndrome 10, also known as bbs10, is related to bardet-biedl syndrome 3 and bardet-biedl syndrome 5. An important gene associated with Bardet-Biedl Syndrome 10 is BBS10 (Bardet-Biedl Syndrome 10). The drugs Hormone Antagonists and Hormones, Hormone Substitutes, and Hormone Antagonists have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and prostate, and related phenotypes are obesity and cognitive impairment

Disease Ontology : 12 A Bardet-Biedl syndrome that has material basis in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21.

OMIM : 58 BBS10 is characterized by progressive retinal dystrophy, obesity, polydactyly, cognitive impairment, and renal dysplasia (Stoetzel et al., 2006). BBS10 represents a major locus for BBS, with mutations in the BBS10 gene accounting for approximately 20% of BBS patients (Stoetzel et al., 2006; Zaghloul and Katsanis, 2009). For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (209900). (615987)

Related Diseases for Bardet-Biedl Syndrome 10

Diseases in the Bardet-Biedl Syndrome family:

Bardet-Biedl Syndrome 1 Bardet-Biedl Syndrome 3
Bardet-Biedl Syndrome 6 Bardet-Biedl Syndrome 2
Bardet-Biedl Syndrome 4 Bardet-Biedl Syndrome 5
Bardet-Biedl Syndrome 7 Bardet-Biedl Syndrome 8
Bardet-Biedl Syndrome 9 Bardet-Biedl Syndrome 10
Bardet-Biedl Syndrome 11 Bardet-Biedl Syndrome 12
Bardet-Biedl Syndrome 13 Bardet-Biedl Syndrome 14
Bardet-Biedl Syndrome 15 Bardet-Biedl Syndrome 16
Bardet-Biedl Syndrome 17 Bardet-Biedl Syndrome 18
Bardet-Biedl Syndrome 19 Bardet-Biedl Syndrome 20
Bardet-Biedl Syndrome 21

Diseases related to Bardet-Biedl Syndrome 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 314)
# Related Disease Score Top Affiliating Genes
1 bardet-biedl syndrome 3 13.0
2 bardet-biedl syndrome 5 13.0
3 bardet-biedl syndrome 17 12.9
4 bardet-biedl syndrome 16 12.9
5 bardet-biedl syndrome 18 12.9
6 bardet-biedl syndrome 20 12.9
7 bardet-biedl syndrome 21 12.9
8 bardet-biedl syndrome 15 12.8
9 bardet-biedl syndrome 11.9
10 alstrom syndrome 11.9
11 laurence-moon syndrome 11.9
12 vaginal atresia 11.7
13 bardet-biedl syndrome 6 11.6
14 mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome 11.5
15 bardet-biedl syndrome 1 11.5
16 biemond syndrome 11.4
17 retinitis pigmentosa 11.2
18 short-rib thoracic dysplasia 3 with or without polydactyly 11.2
19 bardet-biedl syndrome 8 11.2
20 bardet-biedl syndrome 13 11.2
21 bardet-biedl syndrome 14 11.2
22 bardet-biedl syndrome 19 11.2
23 fundus dystrophy 11.2
24 nijmegen breakage syndrome 11.1
25 macular degeneration, age-related, 1 11.0
26 alacrima, achalasia, and mental retardation syndrome 11.0
27 polydactyly 10.8
28 bardet-biedl syndrome 2 10.6
29 bardet-biedl syndrome 12 10.6
30 bardet-biedl syndrome 11 10.6
31 mckusick-kaufman syndrome 10.5
32 retinitis 10.5
33 situs inversus 10.5
34 diabetes mellitus 10.5
35 end stage renal failure 10.5
36 kidney disease 10.5
37 retinal degeneration 10.5
38 leber congenital amaurosis 4 10.4
39 hirschsprung disease 1 10.3
40 polydactyly, postaxial, type a1 10.3
41 cone-rod dystrophy 16 10.3
42 chronic kidney failure 10.3
43 pathologic nystagmus 10.3
44 tropical calcific pancreatitis 10.3
45 diabetes mellitus, insulin-dependent 10.3
46 lymphopenia 10.3
47 neuropathy 10.2
48 fundus albipunctatus 10.2
49 renal cell carcinoma, nonpapillary 10.2
50 polycystic kidney disease 1 with or without polycystic liver disease 10.2

Graphical network of the top 20 diseases related to Bardet-Biedl Syndrome 10:



Diseases related to Bardet-Biedl Syndrome 10

Symptoms & Phenotypes for Bardet-Biedl Syndrome 10

Human phenotypes related to Bardet-Biedl Syndrome 10:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 obesity 33 HP:0001513
2 cognitive impairment 33 HP:0100543
3 renal insufficiency 33 HP:0000083
4 hypogonadism 33 HP:0000135
5 rod-cone dystrophy 33 HP:0000510
6 renal cyst 33 HP:0000107
7 polydactyly 33 HP:0010442

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Genitourinary External Genitalia Male:
hypogonadism

Skeletal Hands:
polydactyly

Genitourinary Kidneys:
renal failure
renal anomalies
cystic kidneys (may be observed prenatally)

Neurologic Central Nervous System:
cognitive impairment

Head And Neck Eyes:
retinal dystrophy
retinitis pigmentosa

Skeletal Feet:
polydactyly

Abdomen:
situs ambiguus (1 patient)

Clinical features from OMIM:

615987

Drugs & Therapeutics for Bardet-Biedl Syndrome 10

Drugs for Bardet-Biedl Syndrome 10 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormone Antagonists Phase 3,Phase 2
2 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
3 Hormones Phase 3,Phase 2
4 alpha-MSH Phase 3,Phase 2 581-05-5
5 Liver Extracts
6 Insulin, Globin Zinc
7 insulin

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Setmelanotide (RM-493), Melanocortin-4 Receptor (MC4R) Agonist, in Bardet-Biedl Syndrome (BBS) and Alström Syndrome (AS) Patients With Moderate to Severe Obesity Recruiting NCT03746522 Phase 3 Setmelanotide;Placebos
2 Setmelanotide Phase 2 Treatment Trial in Patients With Rare Genetic Disorders of Obesity Recruiting NCT03013543 Phase 2, Phase 3 Setmelanotide
3 Treatment of Bardet-Biedl-Syndrome With Metformin for Evaluation of a Possible Visual Improvement Withdrawn NCT03490019 Phase 2 Metformin
4 Bardet-Biedl Syndrome Study: Clinical and Genetic Epidemiology Study in Adults Completed NCT00213811
5 Phenotype and Etiology of Pallister-Hall Syndrome Completed NCT00001404
6 Clinical Registry Investigating Bardet-Biedl Syndrome Recruiting NCT02329210
7 Phenotypic and Genotypic Characterization of Subjects With Syndromic Obesity: Identifying New Candidate Genes by Exome Sequencing (OBEXOME) Recruiting NCT02510989
8 Inherited Retinal Degenerative Disease Registry Recruiting NCT02435940
9 UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource Recruiting NCT01401998
10 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
11 Genetics and Clinical Characteristics of Bardet-Biedl Syndrome Terminated NCT00078091

Search NIH Clinical Center for Bardet-Biedl Syndrome 10

Genetic Tests for Bardet-Biedl Syndrome 10

Genetic tests related to Bardet-Biedl Syndrome 10:

# Genetic test Affiliating Genes
1 Bardet-Biedl Syndrome 10 30 BBS10

Anatomical Context for Bardet-Biedl Syndrome 10

MalaCards organs/tissues related to Bardet-Biedl Syndrome 10:

42
Kidney, Heart, Prostate, Liver, Brain, Bone, Pituitary

Publications for Bardet-Biedl Syndrome 10

Articles related to Bardet-Biedl Syndrome 10:

(show top 50) (show all 496)
# Title Authors Year
1
Acute myocardial infarction and haemodynamic stroke in a young patient with Bardet-Biedl syndrome. ( 31040148 )
2019
2
Characterization of Bardet-Biedl syndrome by postmortem microfocus computed tomography (micro-CT). ( 30079607 )
2019
3
Anesthetic Management of a Pediatric Patient With Bardet-Biedl Syndrome: A Case Report. ( 30234512 )
2019
4
Thoraco-Abdominal Abnormalities in Bardet-Biedl Syndrome: Situs Inversus and Heterotaxy. ( 30293640 )
2019
5
Bardet-Biedl Syndrome proteins regulate cilia disassembly during tissue maturation. ( 30446775 )
2019
6
Retrotransposon insertion as a novel mutational event in Bardet-Biedl syndrome. ( 30484961 )
2019
7
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. ( 30614526 )
2019
8
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. ( 30723319 )
2019
9
Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome. ( 30761183 )
2019
10
Cutaneous findings in Bardet-Biedl syndrome. ( 30790276 )
2019
11
Linear porokeratosis associated with Bardet-Biedl syndrome: A case report. ( 30793792 )
2019
12
Identification of a homozygous BBS7 frameshift mutation in two (related) Chinese Miao families with Bardet-Biedl Syndrome. ( 30839500 )
2019
13
Novel splicing variant c. 208+2T>C in  BBS5  segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. ( 30850397 )
2019
14
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. ( 30901771 )
2019
15
Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. ( 30902542 )
2019
16
Association of bifid epiglottis and laryngeal web with Bardet-Biedl syndrome: A case report. ( 31022684 )
2019
17
Rarity of Laurence Moon Bardet Biedl Syndrome and its Poor Management in the Pakistani Population. ( 31058008 )
2019
18
Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. ( 29126234 )
2018
19
Homozygous mutation in CEP19, a gene mutated in morbid obesity, in Bardet-Biedl syndrome with predominant postaxial polydactyly. ( 29127258 )
2018
20
Novel sequence variants in the MKKS gene cause Bardet-Biedl syndrome with intra- and inter-familial variable phenotypes. ( 29232001 )
2018
21
The Bardet-Biedl syndrome protein complex is an adapter expanding the cargo range of intraflagellar transport trains for ciliary export. ( 29339469 )
2018
22
Cytogenomic identification and long-read single molecule real-time (SMRT) sequencing of a Bardet-Biedl Syndrome 9 (BBS9) deletion. ( 29367880 )
2018
23
The Endocrine and Metabolic Characteristics of a Large Bardet-Biedl Syndrome Clinic Population. ( 29409041 )
2018
24
Kinesin 1 regulates cilia length through an interaction with the Bardet-Biedl syndrome related protein CCDC28B. ( 29445114 )
2018
25
The renal lesions in Bardet-Biedl Syndrome: history before and after the discovery of BBS genes. ( 29482283 )
2018
26
Managing Bardet-Biedl Syndrome-Now and in the Future. ( 29487844 )
2018
27
Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome. ( 29539623 )
2018
28
Identification of A Novel Compound Heterozygous Mutation in BBS12 in An Iranian Family with Bardet-Biedl Syndrome Using Targeted Next Generation Sequencing. ( 29633607 )
2018
29
Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations. ( 29666954 )
2018
30
Screening for mutation hotspots in Bardet-Biedl syndrome patients from India. ( 29806606 )
2018
31
Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome. ( 29854508 )
2018
32
Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (Bbs1M390R/M390R): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation. ( 29971011 )
2018
33
Early prenatal detection of Bardet-Biedl syndrome in a case with postaxial polydactyly and hyperechoic kidneys confirmed by next generation sequencing. ( 30073714 )
2018
34
Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. ( 30142598 )
2018
35
Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. ( 30312873 )
2018
36
A pathogenic homozygous variant of the BBS10 gene in a patient with Bardet Biedl syndrome ( 30335236 )
2018
37
Ciliopathy: Bardet-Biedl Syndrome. ( 30578506 )
2018
38
[Bardet-Biedl syndrome and Kidney failure: a case report]. ( 29390243 )
2018
39
Genotype and Phenotype in an unusual form of Laurence-Moon-Bardet-Biedl syndrome. ( 27879052 )
2017
40
Genetic characterization of Italian patients with Bardet-Biedl syndrome and correlation to ocular, renal and audio-vestibular phenotype: identification of eleven novel pathogenic sequence variants. ( 28143435 )
2017
41
Gene Therapeutic Reversal of Peripheral Olfactory Impairment in Bardet-Biedl Syndrome. ( 28237838 )
2017
42
Anesthetic management of two cases of Bardet-Biedl syndrome for renal transplantation. ( 28352024 )
2017
43
Prenatal diagnosis of Bardet-Biedl syndrome in a case of hyperechogenic kidneys: Clinical use of DNA sequencing. ( 28396767 )
2017
44
Functional analysis by minigene assay of putative splicing variants found in Bardet-Biedl syndrome patients. ( 28502102 )
2017
45
Bardet Biedl Syndrome - A Report of Two Cases with Otolaryngologic Symptoms. ( 28511423 )
2017
46
A Coding Variant in the Gene Bardet-Biedl Syndrome 4 (BBS4) Is Associated with a Novel Form of Canine Progressive Retinal Atrophy. ( 28533336 )
2017
47
Acute flaccid paraparesis (cauda equina syndrome) in a patient with Bardet-Biedl syndrome. ( 28566787 )
2017
48
Whole-exome sequencing identified compound heterozygous variants in MMKS in a Chinese pedigree with Bardet-Biedl syndrome. ( 28624958 )
2017
49
Oral and Craniofacial Anomalies of Bardet-Biedl Syndrome: Dental Management in the Context of a Rare Disease. ( 28662344 )
2017
50
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. ( 28761321 )
2017

Variations for Bardet-Biedl Syndrome 10

UniProtKB/Swiss-Prot genetic disease variations for Bardet-Biedl Syndrome 10:

76 (show all 24)
# Symbol AA change Variation ID SNP ID
1 BBS10 p.Arg34Pro VAR_026391 rs137852836
2 BBS10 p.Arg49Trp VAR_026392 rs768933093
3 BBS10 p.Cys91Trp VAR_026393 rs148374859
4 BBS10 p.Leu170Ser VAR_026394 rs780916348
5 BBS10 p.Cys195Trp VAR_026395
6 BBS10 p.Tyr197Cys VAR_026396 rs756632517
7 BBS10 p.Val240Gly VAR_026397
8 BBS10 p.Leu308Phe VAR_026398
9 BBS10 p.Ser311Ala VAR_026399 rs137852837
10 BBS10 p.Ser329Leu VAR_026400 rs100099013
11 BBS10 p.Pro363Leu VAR_026401 rs938066133
12 BBS10 p.Leu414Ser VAR_026403 rs786204575
13 BBS10 p.Lys579Arg VAR_026404 rs141521925
14 BBS10 p.Tyr613Cys VAR_026405 rs575957641
15 BBS10 p.Tyr613His VAR_026406 rs141647931
16 BBS10 p.Gly677Val VAR_026407
17 BBS10 p.Thr689Pro VAR_026408 rs759387000
18 BBS10 p.Leu55Pro VAR_066252 rs146051764
19 BBS10 p.Lys188Thr VAR_066254
20 BBS10 p.His410Gln VAR_066257 rs144755505
21 BBS10 p.Leu600Ser VAR_066258
22 BBS10 p.Ala636Val VAR_066259 rs113224628
23 BBS10 p.Leu687Pro VAR_066260
24 BBS10 p.Val11Gly VAR_075722 rs137852838

ClinVar genetic disease variations for Bardet-Biedl Syndrome 10:

6 (show top 50) (show all 192)
# Gene Variation Type Significance SNP ID Assembly Location
1 BBS10 NM_024685.4(BBS10): c.271dup (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh38 Chromosome 12, 76347714: 76347714
2 BBS10 NM_024685.4(BBS10): c.271dup (p.Cys91Leufs) duplication Pathogenic rs549625604 GRCh37 Chromosome 12, 76741494: 76741494
3 BBS10 NM_024685.4(BBS10): c.101G> C (p.Arg34Pro) single nucleotide variant Uncertain significance rs137852836 GRCh37 Chromosome 12, 76742038: 76742038
4 BBS10 NM_024685.4(BBS10): c.101G> C (p.Arg34Pro) single nucleotide variant Uncertain significance rs137852836 GRCh38 Chromosome 12, 76348258: 76348258
5 BBS10 NM_024685.4(BBS10): c.931T> G (p.Ser311Ala) single nucleotide variant Pathogenic rs137852837 GRCh37 Chromosome 12, 76740834: 76740834
6 BBS10 NM_024685.4(BBS10): c.931T> G (p.Ser311Ala) single nucleotide variant Pathogenic rs137852837 GRCh38 Chromosome 12, 76347054: 76347054
7 BBS10 NM_024685.4(BBS10): c.32T> G (p.Val11Gly) single nucleotide variant Uncertain significance rs137852838 GRCh37 Chromosome 12, 76742107: 76742107
8 BBS10 NM_024685.4(BBS10): c.32T> G (p.Val11Gly) single nucleotide variant Uncertain significance rs137852838 GRCh38 Chromosome 12, 76348327: 76348327
9 BBS10 NM_024685.3(BBS10): c.1044_1045delTT (p.Pro350Ilefs) deletion Pathogenic rs587777837 GRCh38 Chromosome 12, 76346940: 76346941
10 BBS10 NM_024685.3(BBS10): c.1044_1045delTT (p.Pro350Ilefs) deletion Pathogenic rs587777837 GRCh37 Chromosome 12, 76740720: 76740721
11 BBS10 NM_024685.4(BBS10): c.273C> G (p.Cys91Trp) single nucleotide variant Pathogenic rs148374859 GRCh37 Chromosome 12, 76741492: 76741492
12 BBS10 NM_024685.4(BBS10): c.273C> G (p.Cys91Trp) single nucleotide variant Pathogenic rs148374859 GRCh38 Chromosome 12, 76347712: 76347712
13 BBS10 NM_024685.4(BBS10): c.1736A> G (p.Lys579Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141521925 GRCh37 Chromosome 12, 76740029: 76740029
14 BBS10 NM_024685.4(BBS10): c.1736A> G (p.Lys579Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs141521925 GRCh38 Chromosome 12, 76346249: 76346249
15 BBS10 NM_024685.4(BBS10): c.1202G> A (p.Gly401Glu) single nucleotide variant Pathogenic rs199474722 GRCh37 Chromosome 12, 76740563: 76740563
16 BBS10 NM_024685.4(BBS10): c.1202G> A (p.Gly401Glu) single nucleotide variant Pathogenic rs199474722 GRCh38 Chromosome 12, 76346783: 76346783
17 BBS10 NM_024685.4(BBS10): c.1616C> T (p.Pro539Leu) single nucleotide variant Benign/Likely benign rs35676114 GRCh37 Chromosome 12, 76740149: 76740149
18 BBS10 NM_024685.4(BBS10): c.1616C> T (p.Pro539Leu) single nucleotide variant Benign/Likely benign rs35676114 GRCh38 Chromosome 12, 76346369: 76346369
19 BBS10 NM_024685.4(BBS10): c.1264C> T (p.Arg422Trp) single nucleotide variant Uncertain significance rs375746803 GRCh37 Chromosome 12, 76740501: 76740501
20 BBS10 NM_024685.4(BBS10): c.1264C> T (p.Arg422Trp) single nucleotide variant Uncertain significance rs375746803 GRCh38 Chromosome 12, 76346721: 76346721
21 BBS10 NM_024685.3(BBS10): c.1091delA (p.Asn364Thrfs) deletion Pathogenic/Likely pathogenic rs727503818 GRCh37 Chromosome 12, 76740674: 76740674
22 BBS10 NM_024685.3(BBS10): c.1091delA (p.Asn364Thrfs) deletion Pathogenic/Likely pathogenic rs727503818 GRCh38 Chromosome 12, 76346894: 76346894
23 BBS10 NM_024685.3(BBS10): c.1599_1602delAACT (p.Thr534Ilefs) deletion Likely pathogenic rs770556842 GRCh38 Chromosome 12, 76346383: 76346386
24 BBS10 NM_024685.3(BBS10): c.1599_1602delAACT (p.Thr534Ilefs) deletion Likely pathogenic rs770556842 GRCh37 Chromosome 12, 76740163: 76740166
25 BBS10 NM_024685.3(BBS10): c.1448_1452delCTCAA (p.Thr483Asnfs) deletion Likely pathogenic rs786204705 GRCh37 Chromosome 12, 76740313: 76740317
26 BBS10 NM_024685.3(BBS10): c.1448_1452delCTCAA (p.Thr483Asnfs) deletion Likely pathogenic rs786204705 GRCh38 Chromosome 12, 76346533: 76346537
27 BBS10 NM_024685.4(BBS10): c.1241T> C (p.Leu414Ser) single nucleotide variant Likely pathogenic rs786204575 GRCh37 Chromosome 12, 76740524: 76740524
28 BBS10 NM_024685.4(BBS10): c.1241T> C (p.Leu414Ser) single nucleotide variant Likely pathogenic rs786204575 GRCh38 Chromosome 12, 76346744: 76346744
29 BBS10 NM_024685.4(BBS10): c.1184dup (p.His395Glnfs) duplication Likely pathogenic rs786204573 GRCh38 Chromosome 12, 76346801: 76346801
30 BBS10 NM_024685.4(BBS10): c.1184dup (p.His395Glnfs) duplication Likely pathogenic rs786204573 GRCh37 Chromosome 12, 76740581: 76740581
31 BBS10 NM_024685.3(BBS10): c.728_731delAAGA (p.Lys243Ilefs) deletion Pathogenic/Likely pathogenic rs786204671 GRCh38 Chromosome 12, 76347254: 76347257
32 BBS10 NM_024685.3(BBS10): c.728_731delAAGA (p.Lys243Ilefs) deletion Pathogenic/Likely pathogenic rs786204671 GRCh37 Chromosome 12, 76741034: 76741037
33 BBS10 NM_024685.4(BBS10): c.1838A> G (p.Tyr613Cys) single nucleotide variant Uncertain significance rs575957641 GRCh37 Chromosome 12, 76739927: 76739927
34 BBS10 NM_024685.4(BBS10): c.1838A> G (p.Tyr613Cys) single nucleotide variant Uncertain significance rs575957641 GRCh38 Chromosome 12, 76346147: 76346147
35 BBS10 NM_024685.4(BBS10): c.1144G> T (p.Val382Phe) single nucleotide variant Uncertain significance rs775492103 GRCh37 Chromosome 12, 76740621: 76740621
36 BBS10 NM_024685.4(BBS10): c.1144G> T (p.Val382Phe) single nucleotide variant Uncertain significance rs775492103 GRCh38 Chromosome 12, 76346841: 76346841
37 BBS10 NM_024685.3(BBS10): c.687delT (p.Val230Phefs) deletion Pathogenic rs761101213 GRCh37 Chromosome 12, 76741078: 76741078
38 BBS10 NM_024685.3(BBS10): c.687delT (p.Val230Phefs) deletion Pathogenic rs761101213 GRCh38 Chromosome 12, 76347298: 76347298
39 BBS10 NM_024685.4(BBS10): c.531C> A (p.Tyr177Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863224522 GRCh38 Chromosome 12, 76347454: 76347454
40 BBS10 NM_024685.4(BBS10): c.531C> A (p.Tyr177Ter) single nucleotide variant Pathogenic/Likely pathogenic rs863224522 GRCh37 Chromosome 12, 76741234: 76741234
41 BBS10 NM_024685.3(BBS10): c.1856_1865delAAAAATGCCA (p.Lys619Ilefs) deletion Pathogenic rs869025209 GRCh37 Chromosome 12, 76739900: 76739909
42 BBS10 NM_024685.3(BBS10): c.1856_1865delAAAAATGCCA (p.Lys619Ilefs) deletion Pathogenic rs869025209 GRCh38 Chromosome 12, 76346120: 76346129
43 BBS10 NM_024685.3(BBS10): c.1547delC (p.Thr516Asnfs) deletion Pathogenic rs869025211 GRCh37 Chromosome 12, 76740218: 76740218
44 BBS10 NM_024685.3(BBS10): c.1547delC (p.Thr516Asnfs) deletion Pathogenic rs869025211 GRCh38 Chromosome 12, 76346438: 76346438
45 BBS10 NM_024685.3(BBS10): c.1024_1025insA (p.Ile342Asnfs) duplication Pathogenic rs869025210 GRCh37 Chromosome 12, 76740741: 76740741
46 BBS10 NM_024685.3(BBS10): c.1024_1025insA (p.Ile342Asnfs) duplication Pathogenic rs869025210 GRCh38 Chromosome 12, 76346961: 76346961
47 BBS10 NM_024685.4(BBS10): c.145C> T (p.Arg49Trp) single nucleotide variant Pathogenic rs768933093 GRCh37 Chromosome 12, 76741994: 76741994
48 BBS10 NM_024685.4(BBS10): c.145C> T (p.Arg49Trp) single nucleotide variant Pathogenic rs768933093 GRCh38 Chromosome 12, 76348214: 76348214
49 BBS10 NM_024685.4(BBS10): c.765G> A (p.Met255Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139658279 GRCh37 Chromosome 12, 76741000: 76741000
50 BBS10 NM_024685.4(BBS10): c.765G> A (p.Met255Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs139658279 GRCh38 Chromosome 12, 76347220: 76347220

Expression for Bardet-Biedl Syndrome 10

Search GEO for disease gene expression data for Bardet-Biedl Syndrome 10.

Pathways for Bardet-Biedl Syndrome 10

GO Terms for Bardet-Biedl Syndrome 10

Sources for Bardet-Biedl Syndrome 10

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