BBS1 (Bardet-Biedl syndrome 1) - Rat Genome Database

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Gene: BBS1 (Bardet-Biedl syndrome 1) Homo sapiens
Analyze
Symbol: BBS1
Name: Bardet-Biedl syndrome 1
RGD ID: 1316858
HGNC Page HGNC:966
Description: Enables RNA polymerase II-specific DNA-binding transcription factor binding activity; patched binding activity; and smoothened binding activity. Involved in non-motile cilium assembly; photoreceptor cell maintenance; and protein localization to cilium. Acts upstream of or within Golgi to plasma membrane protein transport. Located in centrosome and ciliary membrane. Part of BBSome. Implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 1.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Bardet-Biedl syndrome 1 protein; BBS2-like protein 2; BBS2L2; FLJ23590; MGC126183; MGC126184; MGC51114
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
GRCh381166,510,635 - 66,533,598 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1166,510,606 - 66,533,613 (+)EnsemblGRCh38hg38GRCh38
GRCh371166,278,106 - 66,301,069 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361166,034,695 - 66,057,660 (+)NCBINCBI36Build 36hg18NCBI36
Build 341166,034,694 - 66,057,660NCBI
Celera1163,598,354 - 63,621,361 (+)NCBICelera
Cytogenetic Map11q13.2NCBI
HuRef1162,606,029 - 62,628,992 (+)NCBIHuRef
CHM1_11166,161,845 - 66,184,809 (+)NCBICHM1_1
T2T-CHM13v2.01166,506,874 - 66,529,839 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axoneme  (IBA)
BBSome  (IBA,IDA,IEA,IPI)
centriolar satellite  (IEA)
centrosome  (IBA,IDA,IEA)
ciliary membrane  (IDA,IEA)
cilium  (IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
cytosol  (TAS)
motile cilium  (IEA)
plasma membrane  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal obesity  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal oral cavity morphology  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the endocrine system  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the kidney  (IAGP)
Abnormality of the ovary  (IAGP)
Abnormality of the sense of smell  (IAGP)
Aganglionic megacolon  (IAGP)
Allergy  (IAGP)
Anxiety  (IAGP)
Aplasia/Hypoplasia of the vagina  (IAGP)
Asthma  (IAGP)
Astigmatism  (IAGP)
Ataxia  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Atypical behavior  (IAGP)
Autism  (IAGP)
Autosomal recessive inheritance  (IAGP)
Biliary tract abnormality  (IAGP)
Blindness  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Brachydactyly  (IAGP)
Broad foot  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Celiac disease  (IAGP)
Childhood onset  (IAGP)
Childhood-onset truncal obesity  (IAGP)
Chronic kidney disease  (IAGP)
Cognitive impairment  (IAGP)
Color vision defect  (IAGP)
Conductive hearing impairment  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congenital onset  (IAGP)
Cryptorchidism  (IAGP)
Decreased HDL cholesterol concentration  (IAGP)
Decreased testicular size  (IAGP)
Delayed speech and language development  (IAGP)
Dental crowding  (IAGP)
Depressed nasal bridge  (IAGP)
Depression  (IAGP)
Dermatochalasis  (IAGP)
Diabetes mellitus  (IAGP)
Downslanted palpebral fissures  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Emotional lability  (IAGP)
Fifth finger distal phalanx clinodactyly  (IAGP)
Finger syndactyly  (IAGP)
Foot polydactyly  (IAGP)
Gait imbalance  (IAGP)
Generalized hirsutism  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatic steatosis  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hirsutism  (IAGP)
Horseshoe kidney  (IAGP)
Hydrometrocolpos  (IAGP)
Hydronephrosis  (IAGP)
Hyperautofluorescent macular lesion  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypertelorism  (IAGP)
Hypertension  (IAGP)
Hypertriglyceridemia  (IAGP)
Hypodontia  (IAGP)
Hypogonadism  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the ovary  (IAGP)
Hypothyroidism  (IAGP)
Impaired fasting glucose  (IAGP)
Infertility  (IAGP)
Inflammation of the large intestine  (IAGP)
Insulin resistance  (IAGP)
Intellectual disability  (IAGP)
Irregular menstruation  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Keratoconus  (IAGP)
Left ventricular hypertrophy  (IAGP)
Long philtrum  (IAGP)
Macrocephaly  (IAGP)
Macrotia  (IAGP)
Maturity-onset diabetes of the young  (IAGP)
Medial flaring of the eyebrow  (IAGP)
Microdontia  (IAGP)
Micropenis  (IAGP)
Multiple renal cysts  (IAGP)
Myopia  (IAGP)
Nasal dysarthria  (IAGP)
Nephrogenic diabetes insipidus  (IAGP)
Nephrotic syndrome  (IAGP)
Neurodevelopmental delay  (IAGP)
Neurogenic bladder  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Otitis media  (IAGP)
Peripheral visual field loss  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Polycystic ovaries  (IAGP)
Poor coordination  (IAGP)
Postaxial foot polydactyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Postaxial polydactyly  (IAGP)
Posterior subcapsular cataract  (IAGP)
Posteriorly rotated ears  (IAGP)
Primary amenorrhea  (IAGP)
Progressive night blindness  (IAGP)
Prominent nasal bridge  (IAGP)
Ptosis  (IAGP)
Radial deviation of finger  (IAGP)
Reduced visual acuity  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retrognathia  (IAGP)
Rhinitis  (IAGP)
Rod-cone dystrophy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short attention span  (IAGP)
Short foot  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Truncal obesity  (IAGP)
Type II diabetes mellitus  (IAGP)
Vaginal atresia  (IAGP)
Vesicoureteral reflux  (IAGP)
Visual impairment  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome. Beales PL, etal., Am J Hum Genet. 2003 May;72(5):1187-99. Epub 2003 Apr 3.
2. Bardet-Biedl syndrome 1 genotype and obesity in the Newfoundland population. Fan Y, etal., Int J Obes Relat Metab Disord. 2004 May;28(5):680-4.
3. Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1). Mykytyn K, etal., Am J Hum Genet. 2003 Feb;72(2):429-37. Epub 2003 Jan 10.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. BBSome ablation in SF1 neurons causes obesity without comorbidities. Rouabhi M, etal., Mol Metab. 2021 Jun;48:101211. doi: 10.1016/j.molmet.2021.101211. Epub 2021 Mar 13.
Additional References at PubMed
PMID:9039982   PMID:10577921   PMID:10577922   PMID:11096143   PMID:12118255   PMID:12477932   PMID:12567324   PMID:12837689   PMID:14702039   PMID:15314642   PMID:15489334   PMID:15517396  
PMID:16327777   PMID:17065520   PMID:17574030   PMID:17980398   PMID:18000879   PMID:18669544   PMID:18762586   PMID:18766993   PMID:19077438   PMID:19081074   PMID:19150989   PMID:19615732  
PMID:20080638   PMID:20301537   PMID:20301590   PMID:20301743   PMID:20603001   PMID:20801516   PMID:21097510   PMID:21520335   PMID:21873635   PMID:21926972   PMID:22139371   PMID:22228099  
PMID:22302990   PMID:22410627   PMID:22500027   PMID:22940089   PMID:23143442   PMID:23432027   PMID:23559858   PMID:23943788   PMID:24500717   PMID:24550735   PMID:24611592   PMID:24611735  
PMID:24681783   PMID:24691443   PMID:24939912   PMID:25402481   PMID:25494902   PMID:25552655   PMID:26022370   PMID:26103456   PMID:26186194   PMID:26254420   PMID:27173435   PMID:27434533  
PMID:28514442   PMID:28986522   PMID:29039417   PMID:30484961   PMID:31586073   PMID:31678930   PMID:31997113   PMID:32759308   PMID:32814053   PMID:33169370   PMID:33572860   PMID:33630762  
PMID:33910932   PMID:33961781   PMID:34423835   PMID:34940782   PMID:35695966   PMID:36744302   PMID:37612261   PMID:37998397  


Genomics

Comparative Map Data
BBS1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381166,510,635 - 66,533,598 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1166,510,606 - 66,533,613 (+)EnsemblGRCh38hg38GRCh38
GRCh371166,278,106 - 66,301,069 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361166,034,695 - 66,057,660 (+)NCBINCBI36Build 36hg18NCBI36
Build 341166,034,694 - 66,057,660NCBI
Celera1163,598,354 - 63,621,361 (+)NCBICelera
Cytogenetic Map11q13.2NCBI
HuRef1162,606,029 - 62,628,992 (+)NCBIHuRef
CHM1_11166,161,845 - 66,184,809 (+)NCBICHM1_1
T2T-CHM13v2.01166,506,874 - 66,529,839 (+)NCBIT2T-CHM13v2.0
Bbs1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39194,936,906 - 4,956,681 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl194,936,906 - 4,956,656 (-)EnsemblGRCm39 Ensembl
GRCm38194,886,878 - 4,906,653 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl194,886,878 - 4,906,628 (-)EnsemblGRCm38mm10GRCm38
MGSCv37194,886,882 - 4,906,627 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36194,889,158 - 4,906,612 (-)NCBIMGSCv36mm8
Celera194,757,796 - 4,779,714 (-)NCBICelera
Cytogenetic Map19ANCBI
cM Map194.14NCBI
Bbs1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81211,614,195 - 211,633,504 (-)NCBIGRCr8
mRatBN7.21202,184,812 - 202,204,118 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1202,186,125 - 202,204,086 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1210,539,190 - 210,557,170 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01217,631,564 - 217,649,496 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01210,322,591 - 210,340,523 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01220,146,084 - 220,165,545 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1220,147,327 - 220,165,678 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01227,078,590 - 227,096,525 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41207,503,399 - 207,521,683 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11207,658,767 - 207,675,153 (-)NCBI
Celera1199,725,764 - 199,743,588 (-)NCBICelera
Cytogenetic Map1q43NCBI
Bbs1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542218,825,756 - 18,844,036 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542218,825,756 - 18,843,820 (-)NCBIChiLan1.0ChiLan1.0
BBS1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2967,736,682 - 67,760,911 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11168,779,386 - 68,803,756 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01161,868,257 - 61,892,473 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11165,192,346 - 65,216,274 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1165,192,355 - 65,216,274 (+)Ensemblpanpan1.1panPan2
BBS1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11850,816,126 - 50,835,354 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1849,426,815 - 49,443,963 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01851,854,538 - 51,873,747 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1851,853,428 - 51,873,589 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11850,955,485 - 50,974,765 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01850,531,013 - 50,548,161 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01851,320,949 - 51,338,319 (-)NCBIUU_Cfam_GSD_1.0
Bbs1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049476,607,347 - 6,634,045 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365993,059,148 - 3,076,299 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365993,059,274 - 3,076,853 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BBS1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl25,886,990 - 5,906,388 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.125,886,989 - 5,906,468 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.224,963,170 - 4,982,613 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BBS1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.117,737,887 - 7,765,022 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl17,737,578 - 7,764,732 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038105,022,016 - 105,048,815 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bbs1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476719,875,535 - 19,893,694 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476719,875,597 - 19,893,652 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BBS1
901 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024649.5(BBS1):c.1340-2A>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV003989297]|Bardet-Biedl syndrome [RCV000020904] Chr11:66529817 [GRCh38]
Chr11:66297288 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|uncertain significance
NM_024649.5(BBS1):c.831-3C>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV000995705]|Bardet-Biedl syndrome [RCV000020905] Chr11:66523453 [GRCh38]
Chr11:66290924 [GRCh37]
Chr11:11q13.2		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.-3_37del (p.Met1fs) deletion Bardet-Biedl syndrome [RCV000020906] Chr11:66510646..66510685 [GRCh38]
Chr11:66278117..66278156 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.670G>A (p.Glu224Lys) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001835636]|Bardet-Biedl syndrome [RCV001228905]|Retinal dystrophy [RCV001074387]|not provided [RCV001725934]|not specified [RCV000029404] Chr11:66519695 [GRCh38]
Chr11:66287166 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.634G>A (p.Asp212Asn) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001826063]|Bardet-Biedl syndrome [RCV001367691] Chr11:66519659 [GRCh38]
Chr11:66287130 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.592-6C>T single nucleotide variant Bardet-Biedl syndrome [RCV001494950] Chr11:66519611 [GRCh38]
Chr11:66287082 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1585T>G (p.Ser529Ala) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001834776]|Bardet-Biedl syndrome [RCV000547894] Chr11:66531005 [GRCh38]
Chr11:66298476 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) single nucleotide variant BBS1-related disorder [RCV003390672]|Bardet-Biedl syndrome 1 [RCV000012926]|Bardet-Biedl syndrome [RCV000174408]|Inborn genetic diseases [RCV002513000]|Retinal dystrophy [RCV000210319]|Retinitis pigmentosa [RCV000504693]|See cases [RCV002251900]|Usher syndrome [RCV000787785]|not provided [RCV000082202] Chr11:66526181 [GRCh38]
Chr11:66293652 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter) single nucleotide variant BBS1-related disorder [RCV003934827]|Bardet-Biedl syndrome 1 [RCV000012927]|Bardet-Biedl syndrome [RCV000169202]|Inborn genetic diseases [RCV002513001]|Retinitis pigmentosa [RCV001723562]|not provided [RCV001008645] Chr11:66531692 [GRCh38]
Chr11:66299163 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.432+1G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV000012928]|Bardet-Biedl syndrome [RCV000169013]|not provided [RCV002225262] Chr11:66514679 [GRCh38]
Chr11:66282150 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.851del (p.Tyr284fs) deletion BBS1-related disorder [RCV003914829]|Bardet-Biedl syndrome 1 [RCV000012929]|Bardet-Biedl syndrome [RCV000780955] Chr11:66523476 [GRCh38]
Chr11:66290947 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000012930]|Bardet-Biedl syndrome [RCV001055313]|Retinal dystrophy [RCV001075155]|not provided [RCV001753415] Chr11:66530973 [GRCh38]
Chr11:66298444 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000988580]|Bardet-Biedl syndrome 1/7, digenic [RCV004562203]|Bardet-Biedl syndrome [RCV000029405]|not provided [RCV000436346]|not specified [RCV000243662] Chr11:66519725 [GRCh38]
Chr11:66287196 [GRCh37]
Chr11:11q13.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters|not provided
BBS1, 1-BP DEL, 1650C deletion Bardet-Biedl syndrome 1 [RCV000012932] Chr11:11q13 pathogenic
NM_024649.5(BBS1):c.1277A>G (p.Asn426Ser) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001834775]|Bardet-Biedl syndrome [RCV000551663]|Inborn genetic diseases [RCV002528349]|Retinal dystrophy [RCV003889922] Chr11:66526745 [GRCh38]
Chr11:66294216 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.24T>C (p.Asp8=) single nucleotide variant BBS1-related disorder [RCV003891704]|Bardet-Biedl syndrome 1 [RCV000709651]|Bardet-Biedl syndrome [RCV000226235]|not provided [RCV003407641]|not specified [RCV000173529] Chr11:66510683 [GRCh38]
Chr11:66278154 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3 copy number gain See cases [RCV000053623] Chr11:66193502..67890770 [GRCh38]
Chr11:65960973..67658241 [GRCh37]
Chr11:65717549..67414817 [NCBI36]
Chr11:11q13.2		 pathogenic
NM_130443.3(DPP3):c.2100C>T (p.Phe700=) single nucleotide variant Malignant melanoma [RCV000062328] Chr11:66509137 [GRCh38]
Chr11:66276608 [GRCh37]
Chr11:66033184 [NCBI36]
Chr11:11q13.2		 not provided
NM_024649.5(BBS1):c.316C>G (p.Leu106Val) single nucleotide variant BBS1-related disorder [RCV003925097]|Bardet-Biedl syndrome 1 [RCV000764995]|Bardet-Biedl syndrome [RCV000359402]|Inborn genetic diseases [RCV004019591]|not provided [RCV000086980]|not specified [RCV001701749] Chr11:66514562 [GRCh38]
Chr11:66282033 [GRCh37]
Chr11:11q13.2		 benign|uncertain significance|not provided
NM_024649.5(BBS1):c.1474-8C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV002467564]|Bardet-Biedl syndrome [RCV001085650]|not provided [RCV000082203] Chr11:66530886 [GRCh38]
Chr11:66298357 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.724-8G>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV000709650]|Bardet-Biedl syndrome [RCV000385461]|not provided [RCV001705779]|not specified [RCV000082204] Chr11:66521262 [GRCh38]
Chr11:66288733 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.831-5C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV001104146]|Bardet-Biedl syndrome [RCV000861255]|Inborn genetic diseases [RCV002513848]|not provided [RCV001573960]|not specified [RCV000082205] Chr11:66523451 [GRCh38]
Chr11:66290922 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.887del (p.Ile296fs) deletion Bardet-Biedl syndrome 1 [RCV002500463]|Bardet-Biedl syndrome [RCV001852117]|Retinal dystrophy [RCV001075229]|not provided [RCV000173898] Chr11:66523512 [GRCh38]
Chr11:66290983 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000709662]|Bardet-Biedl syndrome [RCV000259738]|not specified [RCV000174798] Chr11:66529828 [GRCh38]
Chr11:66297299 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_024649.5(BBS1):c.1424dup (p.Ser476fs) duplication Bardet-Biedl syndrome [RCV000256414] Chr11:66529902..66529903 [GRCh38]
Chr11:66297373..66297374 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_001348571.2(ZDHHC24):c.560-4178_*21+248del deletion Bardet-Biedl syndrome [RCV000256451] Chr11:66526688..66533666 [GRCh38]
Chr11:66294159..66301137 [GRCh37]
Chr11:11q13.2		 pathogenic
GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1 copy number loss See cases [RCV000142881] Chr11:65741431..67705669 [GRCh38]
Chr11:65508902..67473140 [GRCh37]
Chr11:65265478..67229716 [NCBI36]
Chr11:11q13.1-13.2		 pathogenic
NM_024649.5(BBS1):c.436C>T (p.Arg146Ter) single nucleotide variant BBS1-related disorder [RCV003398862]|Bardet-Biedl syndrome 1 [RCV001272374]|Bardet-Biedl syndrome [RCV000169066]|not provided [RCV000627244] Chr11:66515543 [GRCh38]
Chr11:66283014 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000984149]|Bardet-Biedl syndrome [RCV000169362]|not provided [RCV001092071] Chr11:66526753 [GRCh38]
Chr11:66294224 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs) microsatellite Bardet-Biedl syndrome [RCV000169515]|not provided [RCV001008111] Chr11:66526138..66526142 [GRCh38]
Chr11:66293609..66293613 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.803G>A (p.Arg268His) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000293338]|not provided [RCV000404719]|not specified [RCV001820833] Chr11:66521349 [GRCh38]
Chr11:66288820 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000709655]|Bardet-Biedl syndrome [RCV000196228]|not provided [RCV000434974]|not specified [RCV002229495] Chr11:66526151 [GRCh38]
Chr11:66293622 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del) deletion Bardet-Biedl syndrome 1 [RCV001542479]|Bardet-Biedl syndrome [RCV000198771] Chr11:66530988..66530990 [GRCh38]
Chr11:66298459..66298461 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000207577]|Bardet-Biedl syndrome [RCV001225677] Chr11:66523784 [GRCh38]
Chr11:66291255 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.48-3C>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV000207828] Chr11:66511010 [GRCh38]
Chr11:66278481 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.345dup (p.Lys116Ter) duplication Bardet-Biedl syndrome 1 [RCV000671467]|Bardet-Biedl syndrome [RCV001049362] Chr11:66514590..66514591 [GRCh38]
Chr11:66282061..66282062 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.124+1G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV000673570] Chr11:66511090 [GRCh38]
Chr11:66278561 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.433-2A>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV000675034] Chr11:66515538 [GRCh38]
Chr11:66283009 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.47+2T>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV000668745] Chr11:66510708 [GRCh38]
Chr11:66278179 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000778336]|Bardet-Biedl syndrome [RCV000230074] Chr11:66514662 [GRCh38]
Chr11:66282133 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.1474-19C>T single nucleotide variant Bardet-Biedl syndrome [RCV002116321] Chr11:66530875 [GRCh38]
Chr11:66298346 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1585dup (p.Ser529fs) duplication Bardet-Biedl syndrome 1 [RCV000672587] Chr11:66531003..66531004 [GRCh38]
Chr11:66298474..66298475 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000665087] Chr11:66523833 [GRCh38]
Chr11:66291304 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal) deletion Bardet-Biedl syndrome 1 [RCV000666868] Chr11:66531723..66531725 [GRCh38]
Chr11:66299194..66299196 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000356827]|not provided [RCV000320019] Chr11:66526802 [GRCh38]
Chr11:66294273 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1110+45C>T single nucleotide variant not specified [RCV000246126] Chr11:66523927 [GRCh38]
Chr11:66291398 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.*7A>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV000709649]|not provided [RCV001689916]|not specified [RCV000241930] Chr11:66532044 [GRCh38]
Chr11:66299515 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.724-16C>T single nucleotide variant Bardet-Biedl syndrome [RCV001452800]|not specified [RCV000247004] Chr11:66521254 [GRCh38]
Chr11:66288725 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1626A>G (p.Pro542=) single nucleotide variant Bardet-Biedl syndrome [RCV001455481]|not specified [RCV000252168] Chr11:66531673 [GRCh38]
Chr11:66299144 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.378G>A (p.Leu126=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000709660]|Bardet-Biedl syndrome [RCV000262515]|Retinal dystrophy [RCV003888663]|not provided [RCV000589192]|not specified [RCV000247494] Chr11:66514624 [GRCh38]
Chr11:66282095 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.592-24G>A single nucleotide variant not specified [RCV000252472] Chr11:66519593 [GRCh38]
Chr11:66287064 [GRCh37]
Chr11:11q13.2		 benign
GRCh37/hg19 11q13.2(chr11:66024774-67430781)x3 copy number gain See cases [RCV000240374] Chr11:66024774..67430781 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000709661]|Bardet-Biedl syndrome [RCV000369667]|Retinal dystrophy [RCV003888662]|not provided [RCV000587805]|not specified [RCV000243070] Chr11:66529892 [GRCh38]
Chr11:66297363 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.159+14C>T single nucleotide variant Bardet-Biedl syndrome [RCV003633491]|not specified [RCV000248014] Chr11:66511253 [GRCh38]
Chr11:66278724 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu) single nucleotide variant BBS1-related disorder [RCV003409470]|Bardet-Biedl syndrome 1 [RCV000268188]|Bardet-Biedl syndrome [RCV001243569] Chr11:66514436 [GRCh38]
Chr11:66281907 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys) single nucleotide variant BBS1-related disorder [RCV003417984]|Bardet-Biedl syndrome 1 [RCV000764994]|Bardet-Biedl syndrome [RCV000302278]|Retinal dystrophy [RCV003888718]|not provided [RCV000710723]|not specified [RCV001820903] Chr11:66514481 [GRCh38]
Chr11:66281952 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001093956]|Bardet-Biedl syndrome [RCV000345204] Chr11:66523808 [GRCh38]
Chr11:66291279 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.447C>T (p.Pro149=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000372823]|Bardet-Biedl syndrome [RCV001435806]|Retinal dystrophy [RCV003888719] Chr11:66515554 [GRCh38]
Chr11:66283025 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.*10T>A single nucleotide variant BBS1-related disorder [RCV003897694]|Bardet-Biedl syndrome 1 [RCV000709657] Chr11:66532047 [GRCh38]
Chr11:66299518 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp) single nucleotide variant BBS1-related disorder [RCV003957580]|Bardet-Biedl syndrome 1 [RCV000305416]|Bardet-Biedl syndrome [RCV001212347] Chr11:66526150 [GRCh38]
Chr11:66293621 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.981C>T (p.Pro327=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001093955]|Bardet-Biedl syndrome [RCV000287545]|not specified [RCV001820904] Chr11:66523753 [GRCh38]
Chr11:66291224 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.*428G>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV000289990] Chr11:66532465 [GRCh38]
Chr11:66299936 [GRCh37]
Chr11:11q13.2		 benign|uncertain significance
NM_024649.5(BBS1):c.1719A>G (p.Gln573=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000709683]|Bardet-Biedl syndrome [RCV000330285]|not provided [RCV001706455]|not specified [RCV001820905] Chr11:66531974 [GRCh38]
Chr11:66299445 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.1110+15C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV000403380]|Bardet-Biedl syndrome [RCV002056218]|not specified [RCV000780954] Chr11:66523897 [GRCh38]
Chr11:66291368 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.*1215T>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV000311875] Chr11:66533252 [GRCh38]
Chr11:66300723 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_024649.5(BBS1):c.*840A>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV000406652] Chr11:66532877 [GRCh38]
Chr11:66300348 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_024649.5(BBS1):c.636C>T (p.Asp212=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000275971]|Bardet-Biedl syndrome [RCV001456320] Chr11:66519661 [GRCh38]
Chr11:66287132 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.*955G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV000337876] Chr11:66532992 [GRCh38]
Chr11:66300463 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.6C>T (p.Ala2=) single nucleotide variant BBS1-related disorder [RCV003950027]|Bardet-Biedl syndrome 1 [RCV001093962]|Bardet-Biedl syndrome [RCV000360531] Chr11:66510665 [GRCh38]
Chr11:66278136 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.1695+10G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV001094039]|Bardet-Biedl syndrome [RCV000277522]|not provided [RCV001706454]|not specified [RCV001726103] Chr11:66531752 [GRCh38]
Chr11:66299223 [GRCh37]
Chr11:11q13.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.1394G>A (p.Arg465His) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000298668]|Bardet-Biedl syndrome [RCV003114476] Chr11:66529873 [GRCh38]
Chr11:66297344 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1194C>A (p.Ile398=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001093965]|Bardet-Biedl syndrome [RCV000299774]|Retinal dystrophy [RCV003888720] Chr11:66526662 [GRCh38]
Chr11:66294133 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.432+13C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV000709656]|Bardet-Biedl syndrome [RCV002056217] Chr11:66514691 [GRCh38]
Chr11:66282162 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.830+12C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV000345901]|Bardet-Biedl syndrome [RCV001497924] Chr11:66521388 [GRCh38]
Chr11:66288859 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.1508_1509delinsAC (p.Leu503His) indel Bardet-Biedl syndrome [RCV001295476]|not provided [RCV000347236] Chr11:66530928..66530929 [GRCh38]
Chr11:66298399..66298400 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.726G>A (p.Met242Ile) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001272380]|Bardet-Biedl syndrome [RCV000539762]|not provided [RCV000382295] Chr11:66521272 [GRCh38]
Chr11:66288743 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln) single nucleotide variant BBS1-related disorder [RCV003409412]|Bardet-Biedl syndrome 1 [RCV001107215]|Bardet-Biedl syndrome [RCV002521944]|Inborn genetic diseases [RCV004021188]|not provided [RCV000387351] Chr11:66531015 [GRCh38]
Chr11:66298486 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) single nucleotide variant BBS1-related disorder [RCV003947896]|Bardet-Biedl syndrome 1 [RCV001104457]|Bardet-Biedl syndrome [RCV001084455]|not provided [RCV000392499] Chr11:66526806 [GRCh38]
Chr11:66294277 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.772G>C (p.Asp258His) single nucleotide variant BBS1-related disorder [RCV003417910]|Bardet-Biedl syndrome 1 [RCV001278005]|Bardet-Biedl syndrome [RCV001369749]|not provided [RCV000324276] Chr11:66521318 [GRCh38]
Chr11:66288789 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.877G>A (p.Val293Met) single nucleotide variant BBS1-related disorder [RCV003977884]|Bardet-Biedl syndrome 1 [RCV001833444]|Bardet-Biedl syndrome [RCV000384245]|Inborn genetic diseases [RCV003278755] Chr11:66523502 [GRCh38]
Chr11:66290973 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.48-9C>A single nucleotide variant BBS1-related disorder [RCV003957524]|Bardet-Biedl syndrome [RCV001491811]|not provided [RCV000360947] Chr11:66511004 [GRCh38]
Chr11:66278475 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.*855G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV000278111] Chr11:66532892 [GRCh38]
Chr11:66300363 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.*104G>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV000384443] Chr11:66532141 [GRCh38]
Chr11:66299612 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile) single nucleotide variant BBS1-related disorder [RCV003409471]|Bardet-Biedl syndrome 1 [RCV001094040]|Bardet-Biedl syndrome [RCV000387176] Chr11:66531999 [GRCh38]
Chr11:66299470 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.-3A>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV001277997]|not provided [RCV002245935]|not specified [RCV001819974] Chr11:66510657 [GRCh38]
Chr11:66278128 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.742C>A (p.Pro248Thr) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001278004]|not provided [RCV001700728] Chr11:66521288 [GRCh38]
Chr11:66288759 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1489C>A (p.Pro497Thr) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001278533] Chr11:66530909 [GRCh38]
Chr11:66298380 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1738G>A (p.Ala580Thr) single nucleotide variant Inborn genetic diseases [RCV002535035]|not provided [RCV000722642] Chr11:66531993 [GRCh38]
Chr11:66299464 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1110+2T>G single nucleotide variant Bardet-Biedl syndrome [RCV001862123]|not provided [RCV000722672] Chr11:66523884 [GRCh38]
Chr11:66291355 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance
NM_024649.5(BBS1):c.1743C>T (p.His581=) single nucleotide variant BBS1-related disorder [RCV003900344]|Bardet-Biedl syndrome [RCV001479055]|not provided [RCV000598276] Chr11:66531998 [GRCh38]
Chr11:66299469 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.277C>T (p.Leu93Phe) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001559297]|Inborn genetic diseases [RCV002570724] Chr11:66514523 [GRCh38]
Chr11:66281994 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1535G>A (p.Arg512His) single nucleotide variant BBS1-related disorder [RCV003955243]|Bardet-Biedl syndrome 1 [RCV000490348]|Bardet-Biedl syndrome [RCV001048535]|not specified [RCV000825288] Chr11:66530955 [GRCh38]
Chr11:66298426 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.*1088G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV000403006] Chr11:66533125 [GRCh38]
Chr11:66300596 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1439C>A (p.Thr480Lys) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001829791]|Bardet-Biedl syndrome [RCV000638361]|Inborn genetic diseases [RCV002529878] Chr11:66529918 [GRCh38]
Chr11:66297389 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.*473C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV000321664] Chr11:66532510 [GRCh38]
Chr11:66299981 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.41C>G (p.Ala14Gly) single nucleotide variant Retinitis pigmentosa [RCV001199647]|not provided [RCV000585181] Chr11:66510700 [GRCh38]
Chr11:66278171 [GRCh37]
Chr11:11q13.2		 pathogenic|uncertain significance
NM_024649.5(BBS1):c.*522C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV000286482] Chr11:66532559 [GRCh38]
Chr11:66300030 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1180+5G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV000339256] Chr11:66526197 [GRCh38]
Chr11:66293668 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.*562_*563dup duplication Bardet-Biedl syndrome [RCV000341272] Chr11:66532597..66532598 [GRCh38]
Chr11:66300068..66300069 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.*514C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV000376204] Chr11:66532551 [GRCh38]
Chr11:66300022 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1059A>G (p.Gly353=) single nucleotide variant Bardet-Biedl syndrome [RCV001085017]|not provided [RCV000592292] Chr11:66523831 [GRCh38]
Chr11:66291302 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.858C>T (p.Ile286=) single nucleotide variant BBS1-related disorder [RCV003935622]|Bardet-Biedl syndrome [RCV001455889]|not provided [RCV000593860] Chr11:66523483 [GRCh38]
Chr11:66290954 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.480-1G>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV000409654] Chr11:66515692 [GRCh38]
Chr11:66283163 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.786del (p.Ala264fs) deletion Bardet-Biedl syndrome 1 [RCV000409955] Chr11:66521331 [GRCh38]
Chr11:66288802 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.159+2T>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV000410043] Chr11:66511241 [GRCh38]
Chr11:66278712 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.48-2A>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV000409451]|Bardet-Biedl syndrome [RCV001377426] Chr11:66511011 [GRCh38]
Chr11:66278482 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs) deletion BBS1-related disorder [RCV003902454]|Bardet-Biedl syndrome 1 [RCV000410181]|Bardet-Biedl syndrome [RCV001380944] Chr11:66530934..66530935 [GRCh38]
Chr11:66298405..66298406 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.981del (p.Ala328fs) deletion Bardet-Biedl syndrome 1 [RCV000410213]|Bardet-Biedl syndrome [RCV001865261] Chr11:66523751 [GRCh38]
Chr11:66291222 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter) single nucleotide variant BBS1-related disorder [RCV003409566]|Bardet-Biedl syndrome 1 [RCV000410229]|Bardet-Biedl syndrome [RCV001239133] Chr11:66523496 [GRCh38]
Chr11:66290967 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.951+1G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV000410778]|Bardet-Biedl syndrome [RCV000735921]|not provided [RCV002248642] Chr11:66523577 [GRCh38]
Chr11:66291048 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln) single nucleotide variant BBS1-related disorder [RCV003922662]|Bardet-Biedl syndrome 1 [RCV000411434]|Bardet-Biedl syndrome [RCV001387773]|Retinal dystrophy [RCV001074216]|Retinitis pigmentosa [RCV000504813]|not provided [RCV001092069] Chr11:66515586 [GRCh38]
Chr11:66283057 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.182del (p.Pro61fs) deletion Bardet-Biedl syndrome 1 [RCV000410530] Chr11:66514426 [GRCh38]
Chr11:66281897 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.831-2A>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV000709658]|Bardet-Biedl syndrome [RCV000410589]|not provided [RCV001532648] Chr11:66523454 [GRCh38]
Chr11:66290925 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.952-1G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV000410767]|Bardet-Biedl syndrome [RCV001850947] Chr11:66523723 [GRCh38]
Chr11:66291194 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000411176]|Bardet-Biedl syndrome [RCV002523851] Chr11:66523480 [GRCh38]
Chr11:66290951 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.124+1G>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV000411354]|Bardet-Biedl syndrome [RCV003522961] Chr11:66511090 [GRCh38]
Chr11:66278561 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1072del (p.Tyr358fs) deletion Bardet-Biedl syndrome 1 [RCV000709659]|Bardet-Biedl syndrome [RCV000411561] Chr11:66523842 [GRCh38]
Chr11:66291313 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_024649.5(BBS1):c.519-2A>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV000411894] Chr11:66515859 [GRCh38]
Chr11:66283330 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1643dup (p.Glu549fs) duplication Bardet-Biedl syndrome 1 [RCV000411939]|Bardet-Biedl syndrome [RCV001383772] Chr11:66531689..66531690 [GRCh38]
Chr11:66299160..66299161 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.223_224del (p.Leu75fs) deletion Bardet-Biedl syndrome 1 [RCV000412002]|Bardet-Biedl syndrome [RCV001237365]|Retinal dystrophy [RCV001073741] Chr11:66514469..66514470 [GRCh38]
Chr11:66281940..66281941 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer) deletion Bardet-Biedl syndrome 1 [RCV000408994] Chr11:66529901 [GRCh38]
Chr11:66297372 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.908TGG[1] (p.Val304del) microsatellite not specified [RCV000413880] Chr11:66523532..66523534 [GRCh38]
Chr11:66291003..66291005 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.569A>T (p.Lys190Met) single nucleotide variant BBS1-related disorder [RCV003418130]|Bardet-Biedl syndrome 1 [RCV001828435]|Bardet-Biedl syndrome [RCV001246669]|Inborn genetic diseases [RCV004022438]|not provided [RCV000418468] Chr11:66515911 [GRCh38]
Chr11:66283382 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1713del (p.Gly572fs) deletion Retinitis pigmentosa [RCV000505145] Chr11:66531967 [GRCh38]
Chr11:66299438 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp) single nucleotide variant BBS1-related disorder [RCV003932696]|Bardet-Biedl syndrome 1 [RCV000660632]|Bardet-Biedl syndrome [RCV001056999]|not provided [RCV000428642] Chr11:66531014 [GRCh38]
Chr11:66298485 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.329C>A (p.Pro110His) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001833533]|Retinal dystrophy [RCV003889888]|not provided [RCV000425171] Chr11:66514575 [GRCh38]
Chr11:66282046 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1147C>T (p.Arg383Trp) single nucleotide variant BBS1-related disorder [RCV003392248]|Bardet-Biedl syndrome 1 [RCV001274037]|Bardet-Biedl syndrome [RCV001309601]|not provided [RCV000442981] Chr11:66526159 [GRCh38]
Chr11:66293630 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.830+3A>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV001833554]|not provided [RCV000426061] Chr11:66521379 [GRCh38]
Chr11:66288850 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1772C>T (p.Ala591Val) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001835803]|Bardet-Biedl syndrome [RCV001246866]|Retinal dystrophy [RCV003889891]|not provided [RCV000430328] Chr11:66532027 [GRCh38]
Chr11:66299498 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1178G>A (p.Arg393Gln) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001828395]|Bardet-Biedl syndrome [RCV001233127]|not provided [RCV000436972] Chr11:66526190 [GRCh38]
Chr11:66293661 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.794C>A (p.Ala265Glu) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001809414]|Bardet-Biedl syndrome [RCV000464697] Chr11:66521340 [GRCh38]
Chr11:66288811 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance
NM_024649.5(BBS1):c.437G>A (p.Arg146Gln) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001828486]|Bardet-Biedl syndrome [RCV000472989]|Inborn genetic diseases [RCV002525625]|Retinal dystrophy [RCV003889901] Chr11:66515544 [GRCh38]
Chr11:66283015 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) single nucleotide variant BBS1-related disorder [RCV003902629]|Bardet-Biedl syndrome 1 [RCV001107785]|Bardet-Biedl syndrome [RCV001081824]|not provided [RCV000726642]|not specified [RCV000455067] Chr11:66519641 [GRCh38]
Chr11:66287112 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000984148]|Bardet-Biedl syndrome [RCV000466299] Chr11:66526708 [GRCh38]
Chr11:66294179 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.17dup (p.Ser7fs) duplication Bardet-Biedl syndrome 1 [RCV000984150]|Bardet-Biedl syndrome [RCV000470099]|Retinal dystrophy [RCV001075560]|not provided [RCV001562726] Chr11:66510675..66510676 [GRCh38]
Chr11:66278146..66278147 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.952-1G>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV000503709] Chr11:66523723 [GRCh38]
Chr11:66291194 [GRCh37]
Chr11:11q13.2		 pathogenic
GRCh38/hg38 11q13.2(chr11:66528892-66536798) copy number loss Bardet-Biedl syndrome [RCV000497465] Chr11:66528892..66536798 [GRCh38]
Chr11:66296361..66304267 [GRCh37]
Chr11:11q13.2		 likely pathogenic
GRCh38/hg38 11q13.2(chr11:66507369-66525103) copy number loss Bardet-Biedl syndrome [RCV000497472] Chr11:66507369..66525103 [GRCh38]
Chr11:66274840..66292574 [GRCh37]
Chr11:11q13.2		 likely pathogenic
GRCh38/hg38 11q13.2(chr11:66520912-66526178) copy number loss Bardet-Biedl syndrome [RCV000498013] Chr11:66520912..66526178 [GRCh38]
Chr11:66288383..66293649 [GRCh37]
Chr11:11q13.2		 likely pathogenic
GRCh37/hg19 11q13.2(chr11:66290130-66305022) copy number loss Bardet-Biedl syndrome [RCV000498405] Chr11:66290130..66305022 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1684G>T (p.Asp562Tyr) single nucleotide variant BBS1-related disorder [RCV003419856]|Bardet-Biedl syndrome 1 [RCV001829423]|Bardet-Biedl syndrome [RCV001373464]|not specified [RCV000502105] Chr11:66531731 [GRCh38]
Chr11:66299202 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) single nucleotide variant BBS1-related disorder [RCV003979884]|Bardet-Biedl syndrome 1 [RCV001274039]|Bardet-Biedl syndrome [RCV001086879]|not provided [RCV000726690]|not specified [RCV000500220] Chr11:66526649 [GRCh38]
Chr11:66294120 [GRCh37]
Chr11:11q13.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.744C>T (p.Pro248=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001274035]|Bardet-Biedl syndrome [RCV000862610]|not specified [RCV000502549] Chr11:66521290 [GRCh38]
Chr11:66288761 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
GRCh37/hg19 11q13.1-13.2(chr11:64501919-67129258)x3 copy number gain See cases [RCV000511632] Chr11:64501919..67129258 [GRCh37]
Chr11:11q13.1-13.2		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_024649.5(BBS1):c.479+2T>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV000666424]|Bardet-Biedl syndrome [RCV001868212] Chr11:66515588 [GRCh38]
Chr11:66283059 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.48-1G>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV000666501]|Bardet-Biedl syndrome [RCV001861753] Chr11:66511012 [GRCh38]
Chr11:66278483 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000667051]|Bardet-Biedl syndrome [RCV001060606] Chr11:66526786 [GRCh38]
Chr11:66294257 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1A>T (p.Met1Leu) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000669884]|Bardet-Biedl syndrome [RCV001855530] Chr11:66510660 [GRCh38]
Chr11:66278131 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1702G>A (p.Val568Met) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000670648] Chr11:66531957 [GRCh38]
Chr11:66299428 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000670649]|Bardet-Biedl syndrome [RCV001861797]|Retinitis pigmentosa [RCV001724126] Chr11:66519689 [GRCh38]
Chr11:66287160 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance
NM_024649.5(BBS1):c.158dup (p.Leu54fs) duplication Bardet-Biedl syndrome 1 [RCV000671952]|Bardet-Biedl syndrome [RCV002531301] Chr11:66511236..66511237 [GRCh38]
Chr11:66278707..66278708 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.595_598del (p.Val199fs) deletion Bardet-Biedl syndrome [RCV000638373] Chr11:66519618..66519621 [GRCh38]
Chr11:66287089..66287092 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.157A>G (p.Lys53Glu) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001829577]|Bardet-Biedl syndrome [RCV000540107] Chr11:66511237 [GRCh38]
Chr11:66278708 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1339G>A (p.Ala447Thr) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002483815]|Bardet-Biedl syndrome [RCV000638357]|Inborn genetic diseases [RCV001267196]|not provided [RCV003313119] Chr11:66526807 [GRCh38]
Chr11:66294278 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|uncertain significance
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001104149]|Bardet-Biedl syndrome [RCV000558593]|not provided [RCV001591224] Chr11:66523860 [GRCh38]
Chr11:66291331 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.777del (p.Glu260fs) deletion Bardet-Biedl syndrome 1 [RCV000625559] Chr11:66521322 [GRCh38]
Chr11:66288793 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1762G>A (p.Glu588Lys) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001829790]|Bardet-Biedl syndrome [RCV000638360]|Inborn genetic diseases [RCV002533214] Chr11:66532017 [GRCh38]
Chr11:66299488 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.54G>A (p.Glu18=) single nucleotide variant BBS1-related disorder [RCV003918025]|Bardet-Biedl syndrome 1 [RCV002492984]|Bardet-Biedl syndrome [RCV000638374] Chr11:66511019 [GRCh38]
Chr11:66278490 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000674877]|Retinitis pigmentosa [RCV001199648]|not provided [RCV000513191] Chr11:66523724 [GRCh38]
Chr11:66291195 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|uncertain significance
NM_024649.5(BBS1):c.1232_1235del (p.Gly411fs) microsatellite Bardet-Biedl syndrome [RCV001381854]|Retinitis pigmentosa [RCV001199646]|not provided [RCV000513608] Chr11:66526696..66526699 [GRCh38]
Chr11:66294167..66294170 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.518+1G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV000667863] Chr11:66515732 [GRCh38]
Chr11:66283203 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1340-1G>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV000669016]|Bardet-Biedl syndrome [RCV003523008] Chr11:66529818 [GRCh38]
Chr11:66297289 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.432+9_432+12del microsatellite Bardet-Biedl syndrome 1 [RCV000665058] Chr11:66514680..66514683 [GRCh38]
Chr11:66282151..66282154 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1110G>A (p.Pro370=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000668784]|Bardet-Biedl syndrome [RCV001377153]|not provided [RCV001756134] Chr11:66523882 [GRCh38]
Chr11:66291353 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.1695G>A (p.Lys565=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000673043]|Bardet-Biedl syndrome [RCV003222093] Chr11:66531742 [GRCh38]
Chr11:66299213 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|uncertain significance
NM_024649.5(BBS1):c.1609-2A>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV000674900] Chr11:66531654 [GRCh38]
Chr11:66299125 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1631T>A (p.Leu544His) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000667279] Chr11:66531678 [GRCh38]
Chr11:66299149 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.724-1G>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV000667597]|Bardet-Biedl syndrome [RCV001377611] Chr11:66521269 [GRCh38]
Chr11:66288740 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1642del (p.Leu548fs) deletion Bardet-Biedl syndrome 1 [RCV000670168]|Bardet-Biedl syndrome [RCV003523009]|not provided [RCV001814215] Chr11:66531685 [GRCh38]
Chr11:66299156 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs) insertion Bardet-Biedl syndrome 1 [RCV000669045] Chr11:66529870..66529871 [GRCh38]
Chr11:66297341..66297342 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1A>C (p.Met1Leu) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000671318] Chr11:66510660 [GRCh38]
Chr11:66278131 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000674193] Chr11:66531972 [GRCh38]
Chr11:66299443 [GRCh37]
Chr11:11q13.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000678523]|Bardet-Biedl syndrome [RCV003633533] Chr11:66529884 [GRCh38]
Chr11:66297355 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.887T>C (p.Ile296Thr) single nucleotide variant BBS1-related disorder [RCV003411622]|Bardet-Biedl syndrome 1 [RCV001274036]|Bardet-Biedl syndrome [RCV000696634]|Inborn genetic diseases [RCV002533460] Chr11:66523512 [GRCh38]
Chr11:66290983 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1125C>G (p.Ser375Arg) single nucleotide variant Bardet-Biedl syndrome [RCV000735916] Chr11:66526137 [GRCh38]
Chr11:66293608 [GRCh37]
Chr11:11q13.2		 pathogenic|uncertain significance
NM_024649.5(BBS1):c.1694A>G (p.Lys565Arg) single nucleotide variant Bardet-Biedl syndrome [RCV000735919] Chr11:66531741 [GRCh38]
Chr11:66299212 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.4(BBS1):c.592-?_830+?del deletion Bardet-Biedl syndrome [RCV000735920]   pathogenic
NM_024649.5(BBS1):c.796_800del (p.Ala266fs) deletion not provided [RCV000722729] Chr11:66521341..66521345 [GRCh38]
Chr11:66288812..66288816 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.169G>C (p.Gly57Arg) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001825443]|Bardet-Biedl syndrome [RCV001317094]|not provided [RCV000723248] Chr11:66514415 [GRCh38]
Chr11:66281886 [GRCh37]
Chr11:11q13.2		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_024649.4(BBS1):c.1111-?_1695+?del deletion Bardet-Biedl syndrome [RCV000735915]   pathogenic
NM_024649.5(BBS1):c.1177C>T (p.Arg393Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV003106027]|Bardet-Biedl syndrome [RCV000735917]|Retinitis pigmentosa [RCV001724144] Chr11:66526189 [GRCh38]
Chr11:66293660 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1473+4A>G single nucleotide variant Bardet-Biedl syndrome [RCV000735918]|not provided [RCV000787533] Chr11:66529956 [GRCh38]
Chr11:66297427 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_024649.5(BBS1):c.798C>G (p.Ala266=) single nucleotide variant Bardet-Biedl syndrome [RCV000919062] Chr11:66521344 [GRCh38]
Chr11:66288815 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1020C>G (p.Ser340=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001272382]|Bardet-Biedl syndrome [RCV000860921]|not provided [RCV001726346]|not specified [RCV001729715] Chr11:66523792 [GRCh38]
Chr11:66291263 [GRCh37]
Chr11:11q13.2		 benign|likely benign
NM_024649.5(BBS1):c.1608+124A>C single nucleotide variant not provided [RCV001669054] Chr11:66531152 [GRCh38]
Chr11:66298623 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn) single nucleotide variant Bardet-Biedl syndrome 1 [RCV000761258] Chr11:66523872 [GRCh38]
Chr11:66291343 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1144G>A (p.Gly382Arg) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002489488]|Bardet-Biedl syndrome [RCV001869383]|not provided [RCV000994661] Chr11:66526156 [GRCh38]
Chr11:66293627 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1243G>A (p.Val415Met) single nucleotide variant BBS1-related disorder [RCV003396647]|Bardet-Biedl syndrome 1 [RCV001272385]|Bardet-Biedl syndrome [RCV001043047]|Inborn genetic diseases [RCV002552517] Chr11:66526711 [GRCh38]
Chr11:66294182 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.592-7_592-5del deletion Bardet-Biedl syndrome 1 [RCV001827265]|Bardet-Biedl syndrome [RCV001043783] Chr11:66519608..66519610 [GRCh38]
Chr11:66287079..66287081 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.68G>A (p.Trp23Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV003461466]|Bardet-Biedl syndrome [RCV001045107] Chr11:66511033 [GRCh38]
Chr11:66278504 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1109C>T (p.Pro370Leu) single nucleotide variant BBS1-related disorder [RCV003938414]|Bardet-Biedl syndrome 1 [RCV001272383]|Bardet-Biedl syndrome [RCV001045943] Chr11:66523881 [GRCh38]
Chr11:66291352 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1485T>C (p.Leu495=) single nucleotide variant BBS1-related disorder [RCV003965724]|Bardet-Biedl syndrome 1 [RCV002501281]|Bardet-Biedl syndrome [RCV000868626] Chr11:66530905 [GRCh38]
Chr11:66298376 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.750C>T (p.Phe250=) single nucleotide variant Bardet-Biedl syndrome [RCV000951204] Chr11:66521296 [GRCh38]
Chr11:66288767 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.243G>C (p.Pro81=) single nucleotide variant Bardet-Biedl syndrome [RCV002065985] Chr11:66514489 [GRCh38]
Chr11:66281960 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1551G>A (p.Leu517=) single nucleotide variant Bardet-Biedl syndrome [RCV001475081] Chr11:66530971 [GRCh38]
Chr11:66298442 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.160-6C>T single nucleotide variant Bardet-Biedl syndrome [RCV001430174] Chr11:66514400 [GRCh38]
Chr11:66281871 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1695+9C>T single nucleotide variant BBS1-related disorder [RCV003965725]|Bardet-Biedl syndrome 1 [RCV001830902]|Bardet-Biedl syndrome [RCV000868635] Chr11:66531751 [GRCh38]
Chr11:66299222 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1467C>T (p.His489=) single nucleotide variant BBS1-related disorder [RCV003955656]|Bardet-Biedl syndrome 1 [RCV001830898]|Bardet-Biedl syndrome [RCV001433547] Chr11:66529946 [GRCh38]
Chr11:66297417 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1533C>T (p.Thr511=) single nucleotide variant Bardet-Biedl syndrome [RCV000944559] Chr11:66530953 [GRCh38]
Chr11:66298424 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser) single nucleotide variant BBS1-related disorder [RCV003938274]|Bardet-Biedl syndrome 1 [RCV001107216]|Bardet-Biedl syndrome [RCV000866224]|Retinal dystrophy [RCV003889995]|not provided [RCV001772161] Chr11:66531681 [GRCh38]
Chr11:66299152 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.1114_1115insTGTG (p.Ala372fs) microsatellite Retinal dystrophy [RCV001075803] Chr11:66526124..66526125 [GRCh38]
Chr11:66293595..66293596 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.432+5A>G single nucleotide variant BBS1-related disorder [RCV003963017]|Bardet-Biedl syndrome 1 [RCV001274033]|Bardet-Biedl syndrome [RCV001055407] Chr11:66514683 [GRCh38]
Chr11:66282154 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.235G>T (p.Glu79Ter) single nucleotide variant Bardet-Biedl syndrome [RCV001056484] Chr11:66514481 [GRCh38]
Chr11:66281952 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.739G>A (p.Val247Ile) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001833666]|Bardet-Biedl syndrome [RCV001070109] Chr11:66521285 [GRCh38]
Chr11:66288756 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1682C>G (p.Ser561Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV003462629]|Retinal dystrophy [RCV001073857] Chr11:66531729 [GRCh38]
Chr11:66299200 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1473+2T>C single nucleotide variant Bardet-Biedl syndrome [RCV003523058]|Retinal dystrophy [RCV001074148] Chr11:66529954 [GRCh38]
Chr11:66297425 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.230T>C (p.Met77Thr) single nucleotide variant Bardet-Biedl syndrome [RCV001057619] Chr11:66514476 [GRCh38]
Chr11:66281947 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1660A>T (p.Ser554Cys) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002493436]|Bardet-Biedl syndrome [RCV002535756]|Retinal dystrophy [RCV003889984]|Retinitis pigmentosa [RCV000787784] Chr11:66531707 [GRCh38]
Chr11:66299178 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1285dup (p.Arg429fs) duplication Bardet-Biedl syndrome [RCV000782274] Chr11:66526749..66526750 [GRCh38]
Chr11:66294220..66294221 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.738C>T (p.Ser246=) single nucleotide variant BBS1-related disorder [RCV003938353]|Bardet-Biedl syndrome [RCV000875202] Chr11:66521284 [GRCh38]
Chr11:66288755 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.840G>C (p.Lys280Asn) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001835987]|Bardet-Biedl syndrome [RCV000860723]|not provided [RCV001356892] Chr11:66523465 [GRCh38]
Chr11:66290936 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.1395C>T (p.Arg465=) single nucleotide variant BBS1-related disorder [RCV003938339]|Bardet-Biedl syndrome 1 [RCV001274041]|Bardet-Biedl syndrome [RCV000874185] Chr11:66529874 [GRCh38]
Chr11:66297345 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.724-9T>C single nucleotide variant Bardet-Biedl syndrome [RCV001506608] Chr11:66521261 [GRCh38]
Chr11:66288732 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.138A>G (p.Leu46=) single nucleotide variant Bardet-Biedl syndrome [RCV000872914] Chr11:66511218 [GRCh38]
Chr11:66278689 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.360C>T (p.Pro120=) single nucleotide variant Bardet-Biedl syndrome [RCV000863810] Chr11:66514606 [GRCh38]
Chr11:66282077 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.873G>A (p.Gln291=) single nucleotide variant Bardet-Biedl syndrome [RCV002539193] Chr11:66523498 [GRCh38]
Chr11:66290969 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.952-7C>G single nucleotide variant Bardet-Biedl syndrome [RCV000907646] Chr11:66523717 [GRCh38]
Chr11:66291188 [GRCh37]
Chr11:11q13.2		 likely benign
GRCh37/hg19 11q13.1-13.2(chr11:65138976-67574402) copy number gain not provided [RCV000767601] Chr11:65138976..67574402 [GRCh37]
Chr11:11q13.1-13.2		 pathogenic
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) single nucleotide variant BBS1-related disorder [RCV003938167]|Bardet-Biedl syndrome 1 [RCV001272375]|Bardet-Biedl syndrome [RCV000799690]|not provided [RCV002275136] Chr11:66515549 [GRCh38]
Chr11:66283020 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_024649.5(BBS1):c.433-5C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV001274034]|Bardet-Biedl syndrome [RCV000871068] Chr11:66515535 [GRCh38]
Chr11:66283006 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.1110+3G>C single nucleotide variant Bardet-Biedl syndrome [RCV000787532]|Retinitis pigmentosa [RCV000787786] Chr11:66523885 [GRCh38]
Chr11:66291356 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001273360]|Bardet-Biedl syndrome [RCV000804705]|Inborn genetic diseases [RCV002534792]|not provided [RCV003128709] Chr11:66529926 [GRCh38]
Chr11:66297397 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) single nucleotide variant Bardet-Biedl syndrome [RCV000782273] Chr11:66510705 [GRCh38]
Chr11:66278176 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1016A>T (p.His339Leu) single nucleotide variant BBS1-related disorder [RCV003392580]|Bardet-Biedl syndrome [RCV000782272] Chr11:66523788 [GRCh38]
Chr11:66291259 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.10:g.(?_66510650)_(66511249_?)del deletion Bardet-Biedl syndrome [RCV001032120] Chr11:66278121..66278720 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1181-6C>T single nucleotide variant BBS1-related disorder [RCV003908290]|Bardet-Biedl syndrome 1 [RCV001274038]|Bardet-Biedl syndrome [RCV000873006] Chr11:66526643 [GRCh38]
Chr11:66294114 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.36C>T (p.Cys12=) single nucleotide variant Bardet-Biedl syndrome [RCV001500226] Chr11:66510695 [GRCh38]
Chr11:66278166 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1383A>G (p.Leu461=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001107213]|Bardet-Biedl syndrome [RCV001473644] Chr11:66529862 [GRCh38]
Chr11:66297333 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.1123dup (p.Ser375fs) duplication not provided [RCV001092070] Chr11:66526134..66526135 [GRCh38]
Chr11:66293605..66293606 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.118del (p.Cys40fs) deletion Bardet-Biedl syndrome 1 [RCV000988579]|Bardet-Biedl syndrome [RCV001247808] Chr11:66511083 [GRCh38]
Chr11:66278554 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1243del (p.Val415fs) deletion Bardet-Biedl syndrome 1 [RCV000988581] Chr11:66526710 [GRCh38]
Chr11:66294181 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.77C>T (p.Ala26Val) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001830053]|Bardet-Biedl syndrome [RCV001248759] Chr11:66511042 [GRCh38]
Chr11:66278513 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.217G>T (p.Gly73Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV003462716]|Bardet-Biedl syndrome [RCV001213374]|not provided [RCV002561812] Chr11:66514463 [GRCh38]
Chr11:66281934 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1378C>T (p.Arg460Cys) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001835345]|Bardet-Biedl syndrome [RCV001248691]|not provided [RCV003148956] Chr11:66529857 [GRCh38]
Chr11:66297328 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.242C>T (p.Pro81Leu) single nucleotide variant BBS1-related disorder [RCV003398965]|Bardet-Biedl syndrome 1 [RCV001828778]|Bardet-Biedl syndrome [RCV001223178]|Inborn genetic diseases [RCV003246771] Chr11:66514488 [GRCh38]
Chr11:66281959 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.575A>G (p.Asn192Ser) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001828756]|Bardet-Biedl syndrome [RCV001220535] Chr11:66515917 [GRCh38]
Chr11:66283388 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.688del (p.Val230fs) deletion Bardet-Biedl syndrome [RCV001224979] Chr11:66519712 [GRCh38]
Chr11:66287183 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.319dup (p.Ala107fs) duplication Bardet-Biedl syndrome 1 [RCV002491758]|Bardet-Biedl syndrome [RCV001235230] Chr11:66514564..66514565 [GRCh38]
Chr11:66282035..66282036 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1235del (p.Gly412fs) deletion Bardet-Biedl syndrome [RCV001241641] Chr11:66526702 [GRCh38]
Chr11:66294173 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1608+1G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV002481807]|Retinitis pigmentosa [RCV001199431] Chr11:66531029 [GRCh38]
Chr11:66298500 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.71dup (p.Leu24fs) duplication Bardet-Biedl syndrome [RCV001213515] Chr11:66511034..66511035 [GRCh38]
Chr11:66278505..66278506 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.518+5G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV001833862]|Bardet-Biedl syndrome [RCV001212838] Chr11:66515736 [GRCh38]
Chr11:66283207 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1021C>T (p.Arg341Trp) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001278006]|Bardet-Biedl syndrome [RCV001215430] Chr11:66523793 [GRCh38]
Chr11:66291264 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.76del (p.Ala26fs) deletion not provided [RCV001009227] Chr11:66511041 [GRCh38]
Chr11:66278512 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001175185]|not provided [RCV001699516] Chr11:66514609 [GRCh38]
Chr11:66282080 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001107783] Chr11:66515698 [GRCh38]
Chr11:66283169 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1701G>C (p.Leu567=) single nucleotide variant Bardet-Biedl syndrome [RCV003108555] Chr11:66531956 [GRCh38]
Chr11:66299427 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1721G>A (p.Ser574Asn) single nucleotide variant Bardet-Biedl syndrome [RCV003112781] Chr11:66531976 [GRCh38]
Chr11:66299447 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1193T>C (p.Ile398Thr) single nucleotide variant Bardet-Biedl syndrome [RCV003117116] Chr11:66526661 [GRCh38]
Chr11:66294132 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_64973914)_(70052579_?)dup duplication Aicardi-Goutieres syndrome 3 [RCV003113322]|FADD-related immunodeficiency [RCV003107753] Chr11:64973914..70052579 [GRCh37]
Chr11:11q13.1-13.3		 uncertain significance
NM_024649.5(BBS1):c.723+297A>G single nucleotide variant not provided [RCV001687702] Chr11:66520045 [GRCh38]
Chr11:66287516 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.1577C>A (p.Ala526Glu) single nucleotide variant Inborn genetic diseases [RCV003292859] Chr11:66530997 [GRCh38]
Chr11:66298468 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.951+7C>A single nucleotide variant Bardet-Biedl syndrome [RCV000862197] Chr11:66523583 [GRCh38]
Chr11:66291054 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.243G>A (p.Pro81=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001107114]|Bardet-Biedl syndrome [RCV000864554] Chr11:66514489 [GRCh38]
Chr11:66281960 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.240C>T (p.Ser80=) single nucleotide variant Bardet-Biedl syndrome [RCV002065984] Chr11:66514486 [GRCh38]
Chr11:66281957 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.723+7G>A single nucleotide variant BBS1-related disorder [RCV003908255]|Bardet-Biedl syndrome 1 [RCV001272378]|Bardet-Biedl syndrome [RCV000869297] Chr11:66519755 [GRCh38]
Chr11:66287226 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.47+1G>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV001780997]|Bardet-Biedl syndrome [RCV003523108] Chr11:66510707 [GRCh38]
Chr11:66278178 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1773G>A (p.Ala591=) single nucleotide variant BBS1-related disorder [RCV003965686]|Bardet-Biedl syndrome 1 [RCV001830878]|Bardet-Biedl syndrome [RCV000864744] Chr11:66532028 [GRCh38]
Chr11:66299499 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.57C>G (p.Ala19=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001274031]|Bardet-Biedl syndrome [RCV000922093] Chr11:66511022 [GRCh38]
Chr11:66278493 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.952-20C>T single nucleotide variant Bardet-Biedl syndrome [RCV002069225]|not specified [RCV001193413] Chr11:66523704 [GRCh38]
Chr11:66291175 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.723+1G>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV003462818]|Bardet-Biedl syndrome [RCV001242050] Chr11:66519749 [GRCh38]
Chr11:66287220 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.332G>A (p.Cys111Tyr) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001835204]|Bardet-Biedl syndrome [RCV001244485] Chr11:66514578 [GRCh38]
Chr11:66282049 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1614del (p.Leu539fs) deletion Bardet-Biedl syndrome [RCV001244810]|not provided [RCV002564089] Chr11:66531659 [GRCh38]
Chr11:66299130 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.200G>A (p.Arg67His) single nucleotide variant BBS1-related disorder [RCV003396749]|Bardet-Biedl syndrome 1 [RCV001107113]|Bardet-Biedl syndrome [RCV001242391]|Inborn genetic diseases [RCV002556096]|not specified [RCV001819816] Chr11:66514446 [GRCh38]
Chr11:66281917 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1534C>A (p.Arg512Ser) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001836231]|Bardet-Biedl syndrome [RCV001244967] Chr11:66530954 [GRCh38]
Chr11:66298425 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.725T>C (p.Met242Thr) single nucleotide variant BBS1-related disorder [RCV003414061]|Bardet-Biedl syndrome 1 [RCV001835232]|Bardet-Biedl syndrome [RCV001245255] Chr11:66521271 [GRCh38]
Chr11:66288742 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.*51C>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV001107859] Chr11:66532088 [GRCh38]
Chr11:66299559 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001107784]|Bardet-Biedl syndrome [RCV002558080] Chr11:66515709 [GRCh38]
Chr11:66283180 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.509A>G (p.Gln170Arg) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001272376]|Bardet-Biedl syndrome [RCV001047356]|Inborn genetic diseases [RCV003160362] Chr11:66515722 [GRCh38]
Chr11:66283193 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.751C>G (p.Leu251Val) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001329987]|Bardet-Biedl syndrome [RCV001240854] Chr11:66521297 [GRCh38]
Chr11:66288768 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.417G>A (p.Trp139Ter) single nucleotide variant Bardet-Biedl syndrome [RCV001209548] Chr11:66514663 [GRCh38]
Chr11:66282134 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.253C>T (p.Leu85=) single nucleotide variant Bardet-Biedl syndrome [RCV000933675] Chr11:66514499 [GRCh38]
Chr11:66281970 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.369G>C (p.Lys123Asn) single nucleotide variant Inborn genetic diseases [RCV002901264] Chr11:66514615 [GRCh38]
Chr11:66282086 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.723+164G>A single nucleotide variant not provided [RCV001676949] Chr11:66519912 [GRCh38]
Chr11:66287383 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.752del (p.Leu251fs) deletion Bardet-Biedl syndrome 1 [RCV001730054] Chr11:66521298 [GRCh38]
Chr11:66288769 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.901G>A (p.Val301Ile) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001836081]|Bardet-Biedl syndrome [RCV001044568] Chr11:66523526 [GRCh38]
Chr11:66290997 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.10:g.66510498C>T single nucleotide variant not provided [RCV001608291] Chr11:66510498 [GRCh38]
Chr11:66277969 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.518+55C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV001538031]|not provided [RCV001685459] Chr11:66515786 [GRCh38]
Chr11:66283257 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.1608+95C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV001553902]|not provided [RCV001694099] Chr11:66531123 [GRCh38]
Chr11:66298594 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.*259C>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV001102626] Chr11:66532296 [GRCh38]
Chr11:66299767 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.*474G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV001102627] Chr11:66532511 [GRCh38]
Chr11:66299982 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.867C>T (p.Ser289=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001104147]|Bardet-Biedl syndrome [RCV001494875] Chr11:66523492 [GRCh38]
Chr11:66290963 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.767del (p.Gln256fs) deletion Bardet-Biedl syndrome [RCV001002873] Chr11:66521313 [GRCh38]
Chr11:66288784 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1071T>C (p.Ile357=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001104148] Chr11:66523843 [GRCh38]
Chr11:66291314 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.10:g.(?_66529809)_(66532047_?)del deletion Bardet-Biedl syndrome [RCV001033093] Chr11:66297280..66299518 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.*187C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV001102624] Chr11:66532224 [GRCh38]
Chr11:66299695 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.*1349T>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV001107300] Chr11:66533386 [GRCh38]
Chr11:66300857 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001107858]|Bardet-Biedl syndrome [RCV001227610] Chr11:66531964 [GRCh38]
Chr11:66299435 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001107115] Chr11:66514584 [GRCh38]
Chr11:66282055 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.441C>T (p.Ile147=) single nucleotide variant BBS1-related disorder [RCV003973074]|Bardet-Biedl syndrome 1 [RCV001107116]|Bardet-Biedl syndrome [RCV001396142] Chr11:66515548 [GRCh38]
Chr11:66283019 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.*219A>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV001102625] Chr11:66532256 [GRCh38]
Chr11:66299727 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.830+2T>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV001175184] Chr11:66521378 [GRCh38]
Chr11:66288849 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.951+58C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV001175186]|Bardet-Biedl syndrome [RCV002555443]|not provided [RCV003322856] Chr11:66523634 [GRCh38]
Chr11:66291105 [GRCh37]
Chr11:11q13.2		 pathogenic|uncertain significance
NM_024649.5(BBS1):c.1155C>G (p.Asp385Glu) single nucleotide variant Bardet-Biedl syndrome [RCV001049517] Chr11:66526167 [GRCh38]
Chr11:66293638 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1473+2T>G single nucleotide variant Retinitis pigmentosa [RCV001724834] Chr11:66529954 [GRCh38]
Chr11:66297425 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1111-2A>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV001832373]|Bardet-Biedl syndrome [RCV001035665] Chr11:66526121 [GRCh38]
Chr11:66293592 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NC_000011.10:g.(?_66510640)_(66523902_?)del deletion Bardet-Biedl syndrome [RCV001033526] Chr11:66278111..66291373 [GRCh37]
Chr11:11q13.2		 pathogenic
Single allele insertion Bardet-Biedl syndrome [RCV001089848] Chr11:11q13.2 pathogenic
NC_000011.10:g.(?_66519607)_(66521386_?)del deletion Bardet-Biedl syndrome [RCV001033799] Chr11:66287078..66288857 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp) single nucleotide variant BBS1-related disorder [RCV003396660]|Bardet-Biedl syndrome 1 [RCV001198224]|Bardet-Biedl syndrome [RCV001048548]|Retinal dystrophy [RCV003890185] Chr11:66515585 [GRCh38]
Chr11:66283056 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.724-8_726del deletion BBS1-related disorder [RCV003405292]|Bardet-Biedl syndrome [RCV001862504]|Retinal dystrophy [RCV001073554] Chr11:66521262..66521272 [GRCh38]
Chr11:66288733..66288743 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001104456]|Bardet-Biedl syndrome [RCV001041892] Chr11:66526778 [GRCh38]
Chr11:66294249 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1737T>G (p.Ser579Arg) single nucleotide variant Bardet-Biedl syndrome [RCV001230253] Chr11:66531992 [GRCh38]
Chr11:66299463 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.10:g.(?_66510650)_(66524211_?)del deletion Bardet-Biedl syndrome [RCV001033013] Chr11:66278121..66291682 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.407A>G (p.Gln136Arg) single nucleotide variant BBS1-related disorder [RCV003928673]|Bardet-Biedl syndrome 1 [RCV001836072]|Bardet-Biedl syndrome [RCV001039988] Chr11:66514653 [GRCh38]
Chr11:66282124 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.194A>G (p.Gln65Arg) single nucleotide variant Bardet-Biedl syndrome [RCV001054281] Chr11:66514440 [GRCh38]
Chr11:66281911 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1264G>A (p.Ala422Thr) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001827367]|Bardet-Biedl syndrome [RCV001058377] Chr11:66526732 [GRCh38]
Chr11:66294203 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.10:g.(?_66523446)_(66524211_?)del deletion Bardet-Biedl syndrome [RCV001033495] Chr11:66290917..66291682 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.*776G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV001104544] Chr11:66532813 [GRCh38]
Chr11:66300284 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.*886C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV001104545] Chr11:66532923 [GRCh38]
Chr11:66300394 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1473G>A (p.Val491=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001248775] Chr11:66529952 [GRCh38]
Chr11:66297423 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.480-2A>C single nucleotide variant Bardet-Biedl syndrome [RCV001246287] Chr11:66515691 [GRCh38]
Chr11:66283162 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.734C>T (p.Pro245Leu) single nucleotide variant BBS1-related disorder [RCV003938576]|Bardet-Biedl syndrome 1 [RCV001835263]|Bardet-Biedl syndrome [RCV001246356] Chr11:66521280 [GRCh38]
Chr11:66288751 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1565T>C (p.Leu522Pro) single nucleotide variant Bardet-Biedl syndrome [RCV001064554] Chr11:66530985 [GRCh38]
Chr11:66298456 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu) single nucleotide variant BBS1-related disorder [RCV003405318]|Bardet-Biedl syndrome 1 [RCV001107214]|Bardet-Biedl syndrome [RCV001221209]|Inborn genetic diseases [RCV002558074] Chr11:66531012 [GRCh38]
Chr11:66298483 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp) single nucleotide variant BBS1-related disorder [RCV003425932]|Bardet-Biedl syndrome 1 [RCV001107217]|Bardet-Biedl syndrome [RCV002558075]|not provided [RCV003222224] Chr11:66531723 [GRCh38]
Chr11:66299194 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.*1217C>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV001107298] Chr11:66533254 [GRCh38]
Chr11:66300725 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.*1274A>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV001107299] Chr11:66533311 [GRCh38]
Chr11:66300782 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.175C>G (p.Leu59Val) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001828697]|Bardet-Biedl syndrome [RCV001212839]|not specified [RCV001819901] Chr11:66514421 [GRCh38]
Chr11:66281892 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1638C>A (p.Tyr546Ter) single nucleotide variant Retinal dystrophy [RCV001073740] Chr11:66531685 [GRCh38]
Chr11:66299156 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1595G>T (p.Arg532Leu) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001274042]|Bardet-Biedl syndrome [RCV001069229] Chr11:66531015 [GRCh38]
Chr11:66298486 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.771T>G (p.Phe257Leu) single nucleotide variant Bardet-Biedl syndrome [RCV001202963] Chr11:66521317 [GRCh38]
Chr11:66288788 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=) single nucleotide variant BBS1-related disorder [RCV003918681]|Bardet-Biedl syndrome 1 [RCV001104458]|Bardet-Biedl syndrome [RCV001505737] Chr11:66529850 [GRCh38]
Chr11:66297321 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.*950C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV001104546] Chr11:66532987 [GRCh38]
Chr11:66300458 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.677A>G (p.Lys226Arg) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002482018]|Bardet-Biedl syndrome [RCV001057056] Chr11:66519702 [GRCh38]
Chr11:66287173 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.830+350_1110+217del deletion Bardet-Biedl syndrome 1 [RCV001257323] Chr11:66521716..66524089 [GRCh38]
Chr11:66289187..66291560 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1214_1215insSVA insertion Bardet-Biedl syndrome 1 [RCV001260589] Chr11:66526682..66526683 [GRCh38]
Chr11:66294153..66294154 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.71T>A (p.Leu24Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001263833] Chr11:66511036 [GRCh38]
Chr11:66278507 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.214A>T (p.Lys72Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001263834] Chr11:66514460 [GRCh38]
Chr11:66281931 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001263835] Chr11:66514652 [GRCh38]
Chr11:66282123 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.700G>T (p.Glu234Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001263836] Chr11:66519725 [GRCh38]
Chr11:66287196 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001264003] Chr11:66523781 [GRCh38]
Chr11:66291252 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.965G>A (p.Trp322Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001264002] Chr11:66523737 [GRCh38]
Chr11:66291208 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001264004] Chr11:66526155 [GRCh38]
Chr11:66293626 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001264005] Chr11:66526666 [GRCh38]
Chr11:66294137 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.4:c.1214_1215ins[MT113356.1:g.1_2409] insertion Bardet-Biedl syndrome [RCV001264838]   pathogenic
NM_024649.4:c.(159+1_160-1)_(1110+1_1111-1)del deletion Bardet-Biedl syndrome [RCV001264839]   pathogenic
NM_024649.5(BBS1):c.951+1G>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV001329988] Chr11:66523577 [GRCh38]
Chr11:66291048 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.4:c.160-?_1110+?del deletion Bardet-Biedl syndrome [RCV001283728]   pathogenic
NM_024649.5(BBS1):c.409G>A (p.Asp137Asn) single nucleotide variant not provided [RCV001310969] Chr11:66514655 [GRCh38]
Chr11:66282126 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1181-3T>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV001835538]|Bardet-Biedl syndrome [RCV001313314] Chr11:66526646 [GRCh38]
Chr11:66294117 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.145del (p.Asp49fs) deletion Bardet-Biedl syndrome [RCV002670834] Chr11:66511222 [GRCh38]
Chr11:66278693 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.227T>A (p.Val76Glu) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001376387]|Bardet-Biedl syndrome [RCV001871987] Chr11:66514473 [GRCh38]
Chr11:66281944 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.160-10C>G single nucleotide variant Bardet-Biedl syndrome [RCV001392569] Chr11:66514396 [GRCh38]
Chr11:66281867 [GRCh37]
Chr11:11q13.2		 likely benign
NC_000011.9:g.(?_59596957)_(68707199_?)dup duplication Familial temporal lobe epilepsy 8 [RCV001372442] Chr11:59596957..68707199 [GRCh37]
Chr11:11q12.1-13.3		 uncertain significance
NM_024649.5(BBS1):c.1177C>G (p.Arg393Gly) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001278007]|Bardet-Biedl syndrome [RCV001300044] Chr11:66526189 [GRCh38]
Chr11:66293660 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.421C>T (p.Gln141Ter) single nucleotide variant Bardet-Biedl syndrome [RCV001383137] Chr11:66514667 [GRCh38]
Chr11:66282138 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1362A>G (p.Thr454=) single nucleotide variant Bardet-Biedl syndrome [RCV001392443] Chr11:66529841 [GRCh38]
Chr11:66297312 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1440G>A (p.Thr480=) single nucleotide variant Bardet-Biedl syndrome [RCV001422814] Chr11:66529919 [GRCh38]
Chr11:66297390 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1446C>T (p.Ala482=) single nucleotide variant Bardet-Biedl syndrome [RCV001415068] Chr11:66529925 [GRCh38]
Chr11:66297396 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1696-5C>T single nucleotide variant Bardet-Biedl syndrome [RCV001397309] Chr11:66531946 [GRCh38]
Chr11:66299417 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.125-4C>T single nucleotide variant Bardet-Biedl syndrome [RCV001423147] Chr11:66511201 [GRCh38]
Chr11:66278672 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.446C>T (p.Pro149Leu) single nucleotide variant Bardet-Biedl syndrome [RCV001299935] Chr11:66515553 [GRCh38]
Chr11:66283024 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1628G>A (p.Gly543Glu) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001831178]|Bardet-Biedl syndrome [RCV001351866] Chr11:66531675 [GRCh38]
Chr11:66299146 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1708C>G (p.Arg570Gly) single nucleotide variant Bardet-Biedl syndrome [RCV001360374] Chr11:66531963 [GRCh38]
Chr11:66299434 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.602C>T (p.Thr201Ile) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002488171]|Bardet-Biedl syndrome [RCV001371508] Chr11:66519627 [GRCh38]
Chr11:66287098 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1076G>T (p.Arg359Leu) single nucleotide variant Bardet-Biedl syndrome [RCV001325570] Chr11:66523848 [GRCh38]
Chr11:66291319 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1205T>C (p.Leu402Pro) single nucleotide variant Bardet-Biedl syndrome [RCV001880202]|Retinal dystrophy [RCV001270354] Chr11:66526673 [GRCh38]
Chr11:66294144 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance
NM_024649.5(BBS1):c.48C>T (p.Ser16=) single nucleotide variant Bardet-Biedl syndrome [RCV001324168] Chr11:66511013 [GRCh38]
Chr11:66278484 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.163G>A (p.Val55Met) single nucleotide variant BBS1-related disorder [RCV003898259]|Bardet-Biedl syndrome 1 [RCV001277998]|Bardet-Biedl syndrome [RCV001367515]|Retinal dystrophy [RCV003887980] Chr11:66514409 [GRCh38]
Chr11:66281880 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.198C>T (p.Pro66=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001277999] Chr11:66514444 [GRCh38]
Chr11:66281915 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.708C>G (p.Phe236Leu) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001278003]|Bardet-Biedl syndrome [RCV001880245] Chr11:66519733 [GRCh38]
Chr11:66287204 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1313C>G (p.Thr438Arg) single nucleotide variant BBS1-related disorder [RCV003928808]|Bardet-Biedl syndrome 1 [RCV001278008]|Bardet-Biedl syndrome [RCV002537783]|not provided [RCV001760318] Chr11:66526781 [GRCh38]
Chr11:66294252 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1346A>T (p.His449Leu) single nucleotide variant Bardet-Biedl syndrome [RCV001368371] Chr11:66529825 [GRCh38]
Chr11:66297296 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1643T>C (p.Leu548Pro) single nucleotide variant Bardet-Biedl syndrome [RCV001371060] Chr11:66531690 [GRCh38]
Chr11:66299161 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.357A>T (p.Arg119Ser) single nucleotide variant BBS1-related disorder [RCV003983868]|Bardet-Biedl syndrome 1 [RCV001278001]|Bardet-Biedl syndrome [RCV001305758] Chr11:66514603 [GRCh38]
Chr11:66282074 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.*13_*21dup duplication Bardet-Biedl syndrome 1 [RCV001278535] Chr11:66532047..66532048 [GRCh38]
Chr11:66299518..66299519 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.595G>A (p.Val199Ile) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001825901]|Bardet-Biedl syndrome [RCV001344204] Chr11:66519620 [GRCh38]
Chr11:66287091 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.587G>A (p.Arg196Gln) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001831220]|Bardet-Biedl syndrome [RCV001361617] Chr11:66515929 [GRCh38]
Chr11:66283400 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1696-1G>A single nucleotide variant Bardet-Biedl syndrome [RCV001319291] Chr11:66531950 [GRCh38]
Chr11:66299421 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.280A>G (p.Met94Val) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001830300]|Bardet-Biedl syndrome [RCV001316237] Chr11:66514526 [GRCh38]
Chr11:66281997 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1067G>A (p.Arg356His) single nucleotide variant BBS1-related disorder [RCV003416168]|Bardet-Biedl syndrome 1 [RCV001835425]|Bardet-Biedl syndrome [RCV001299587] Chr11:66523839 [GRCh38]
Chr11:66291310 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1181-9C>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV004570814]|Bardet-Biedl syndrome [RCV001340368] Chr11:66526640 [GRCh38]
Chr11:66294111 [GRCh37]
Chr11:11q13.2		 likely pathogenic|uncertain significance
NM_024649.5(BBS1):c.159G>A (p.Lys53=) single nucleotide variant Bardet-Biedl syndrome [RCV001360024] Chr11:66511239 [GRCh38]
Chr11:66278710 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1006C>G (p.Leu336Val) single nucleotide variant BBS1-related disorder [RCV003953676]|Bardet-Biedl syndrome 1 [RCV001830425]|Bardet-Biedl syndrome [RCV001340458] Chr11:66523778 [GRCh38]
Chr11:66291249 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1528A>G (p.Thr510Ala) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001278534] Chr11:66530948 [GRCh38]
Chr11:66298419 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1320A>G (p.Arg440=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001278532]|Bardet-Biedl syndrome [RCV001433351]|Retinal dystrophy [RCV003887984] Chr11:66526788 [GRCh38]
Chr11:66294259 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.274T>C (p.Phe92Leu) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001826058]|Bardet-Biedl syndrome [RCV001367134] Chr11:66514520 [GRCh38]
Chr11:66281991 [GRCh37]
Chr11:11q13.2		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_024649.5(BBS1):c.433-9T>C single nucleotide variant Bardet-Biedl syndrome [RCV001394651] Chr11:66515531 [GRCh38]
Chr11:66283002 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1026C>T (p.Gly342=) single nucleotide variant Bardet-Biedl syndrome [RCV001421272] Chr11:66523798 [GRCh38]
Chr11:66291269 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1054A>G (p.Asn352Asp) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001831024]|Bardet-Biedl syndrome [RCV001326974] Chr11:66523826 [GRCh38]
Chr11:66291297 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.646G>A (p.Val216Met) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001830433]|Bardet-Biedl syndrome [RCV001341162] Chr11:66519671 [GRCh38]
Chr11:66287142 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.120C>T (p.Cys40=) single nucleotide variant Bardet-Biedl syndrome [RCV001421465] Chr11:66511085 [GRCh38]
Chr11:66278556 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.910G>T (p.Val304Leu) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001825989]|Bardet-Biedl syndrome [RCV001359017] Chr11:66523535 [GRCh38]
Chr11:66291006 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.-72C>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV001538030]|not provided [RCV001673152] Chr11:66510588 [GRCh38]
Chr11:66278059 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.33C>A (p.Ala11=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002499829]|Bardet-Biedl syndrome [RCV001394150] Chr11:66510692 [GRCh38]
Chr11:66278163 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1615T>C (p.Leu539=) single nucleotide variant Bardet-Biedl syndrome [RCV001456896] Chr11:66531662 [GRCh38]
Chr11:66299133 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1779C>T (p.Ala593=) single nucleotide variant Bardet-Biedl syndrome [RCV001483935] Chr11:66532034 [GRCh38]
Chr11:66299505 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.831-4A>G single nucleotide variant Bardet-Biedl syndrome [RCV001475119] Chr11:66523452 [GRCh38]
Chr11:66290923 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.51T>C (p.Asn17=) single nucleotide variant Bardet-Biedl syndrome [RCV001417199] Chr11:66511016 [GRCh38]
Chr11:66278487 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.84C>T (p.Tyr28=) single nucleotide variant Bardet-Biedl syndrome [RCV001451529] Chr11:66511049 [GRCh38]
Chr11:66278520 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.381C>T (p.Pro127=) single nucleotide variant Bardet-Biedl syndrome [RCV001436406] Chr11:66514627 [GRCh38]
Chr11:66282098 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1608+7G>A single nucleotide variant Bardet-Biedl syndrome [RCV001491127] Chr11:66531035 [GRCh38]
Chr11:66298506 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.549G>A (p.Glu183=) single nucleotide variant Bardet-Biedl syndrome [RCV001506419] Chr11:66515891 [GRCh38]
Chr11:66283362 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.792C>T (p.Ala264=) single nucleotide variant Bardet-Biedl syndrome [RCV001476337] Chr11:66521338 [GRCh38]
Chr11:66288809 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1609-9C>T single nucleotide variant Bardet-Biedl syndrome [RCV001425425] Chr11:66531647 [GRCh38]
Chr11:66299118 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1116A>G (p.Ala372=) single nucleotide variant Bardet-Biedl syndrome [RCV001451968] Chr11:66526128 [GRCh38]
Chr11:66293599 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1062G>A (p.Glu354=) single nucleotide variant Bardet-Biedl syndrome [RCV001405401] Chr11:66523834 [GRCh38]
Chr11:66291305 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.576C>T (p.Asn192=) single nucleotide variant Bardet-Biedl syndrome [RCV001488702] Chr11:66515918 [GRCh38]
Chr11:66283389 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1578G>A (p.Ala526=) single nucleotide variant Bardet-Biedl syndrome [RCV001474284]|Retinal dystrophy [RCV003888193] Chr11:66530998 [GRCh38]
Chr11:66298469 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1143C>T (p.Tyr381=) single nucleotide variant BBS1-related disorder [RCV003938896]|Bardet-Biedl syndrome [RCV001497129] Chr11:66526155 [GRCh38]
Chr11:66293626 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1474-14C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV002506527]|Bardet-Biedl syndrome [RCV001452377] Chr11:66530880 [GRCh38]
Chr11:66298351 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1404G>A (p.Leu468=) single nucleotide variant BBS1-related disorder [RCV003920906]|Bardet-Biedl syndrome [RCV001415656] Chr11:66529883 [GRCh38]
Chr11:66297354 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.468G>A (p.Leu156=) single nucleotide variant Bardet-Biedl syndrome [RCV001469876] Chr11:66515575 [GRCh38]
Chr11:66283046 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.330T>C (p.Pro110=) single nucleotide variant Bardet-Biedl syndrome [RCV001418620] Chr11:66514576 [GRCh38]
Chr11:66282047 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.684C>T (p.Leu228=) single nucleotide variant BBS1-related disorder [RCV003966005]|Bardet-Biedl syndrome 1 [RCV002495744]|Bardet-Biedl syndrome [RCV001493000] Chr11:66519709 [GRCh38]
Chr11:66287180 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1641C>G (p.Pro547=) single nucleotide variant Bardet-Biedl syndrome [RCV001493137] Chr11:66531688 [GRCh38]
Chr11:66299159 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.47+7G>C single nucleotide variant Bardet-Biedl syndrome [RCV001498320] Chr11:66510713 [GRCh38]
Chr11:66278184 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1356C>T (p.Phe452=) single nucleotide variant Bardet-Biedl syndrome [RCV001426782] Chr11:66529835 [GRCh38]
Chr11:66297306 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.479+9C>T single nucleotide variant Bardet-Biedl syndrome [RCV001472607] Chr11:66515595 [GRCh38]
Chr11:66283066 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.669C>T (p.Thr223=) single nucleotide variant BBS1-related disorder [RCV003946219]|Bardet-Biedl syndrome [RCV001469213] Chr11:66519694 [GRCh38]
Chr11:66287165 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.6C>A (p.Ala2=) single nucleotide variant Bardet-Biedl syndrome [RCV001419785] Chr11:66510665 [GRCh38]
Chr11:66278136 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1035C>T (p.Ala345=) single nucleotide variant BBS1-related disorder [RCV003953740]|Bardet-Biedl syndrome [RCV001404519] Chr11:66523807 [GRCh38]
Chr11:66291278 [GRCh37]
Chr11:11q13.2		 likely benign
NC_000011.9:g.(?_66278111)_(66299528_?)del deletion Bardet-Biedl syndrome [RCV001389417] Chr11:66278111..66299528 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1261C>T (p.Gln421Ter) single nucleotide variant Bardet-Biedl syndrome [RCV001388071] Chr11:66526729 [GRCh38]
Chr11:66294200 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1197C>T (p.Ile399=) single nucleotide variant BBS1-related disorder [RCV003930925]|Bardet-Biedl syndrome [RCV001437278] Chr11:66526665 [GRCh38]
Chr11:66294136 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1554G>T (p.Leu518=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002501514]|Bardet-Biedl syndrome [RCV001427781] Chr11:66530974 [GRCh38]
Chr11:66298445 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.591+7C>G single nucleotide variant Bardet-Biedl syndrome [RCV001446292] Chr11:66515940 [GRCh38]
Chr11:66283411 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1696-9C>T single nucleotide variant Bardet-Biedl syndrome [RCV001407300] Chr11:66531942 [GRCh38]
Chr11:66299413 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.771T>C (p.Phe257=) single nucleotide variant Bardet-Biedl syndrome [RCV001394402] Chr11:66521317 [GRCh38]
Chr11:66288788 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.952-5G>A single nucleotide variant Bardet-Biedl syndrome [RCV001435749] Chr11:66523719 [GRCh38]
Chr11:66291190 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.204G>A (p.Leu68=) single nucleotide variant Bardet-Biedl syndrome [RCV001441202] Chr11:66514450 [GRCh38]
Chr11:66281921 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1413C>A (p.Leu471=) single nucleotide variant Bardet-Biedl syndrome [RCV001441235] Chr11:66529892 [GRCh38]
Chr11:66297363 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.948C>T (p.His316=) single nucleotide variant Bardet-Biedl syndrome [RCV001393210] Chr11:66523573 [GRCh38]
Chr11:66291044 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1554G>C (p.Leu518=) single nucleotide variant Bardet-Biedl syndrome [RCV001437624] Chr11:66530974 [GRCh38]
Chr11:66298445 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.48-7C>T single nucleotide variant Bardet-Biedl syndrome [RCV001410553] Chr11:66511006 [GRCh38]
Chr11:66278477 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1512C>T (p.His504=) single nucleotide variant Bardet-Biedl syndrome [RCV001447243] Chr11:66530932 [GRCh38]
Chr11:66298403 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.830G>A (p.Arg277Lys) single nucleotide variant Bardet-Biedl syndrome [RCV001388588] Chr11:66521376 [GRCh38]
Chr11:66288847 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1025dup (p.Leu343fs) duplication Bardet-Biedl syndrome [RCV001381582] Chr11:66523793..66523794 [GRCh38]
Chr11:66291264..66291265 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.270C>T (p.Ala90=) single nucleotide variant Bardet-Biedl syndrome [RCV001405817] Chr11:66514516 [GRCh38]
Chr11:66281987 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.480-9T>C single nucleotide variant Bardet-Biedl syndrome [RCV001417664] Chr11:66515684 [GRCh38]
Chr11:66283155 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1473+16_1473+18dup duplication Bardet-Biedl syndrome [RCV001408578] Chr11:66529966..66529967 [GRCh38]
Chr11:66297437..66297438 [GRCh37]
Chr11:11q13.2		 likely benign
NC_000011.9:g.(?_66293584)_(66294288_?)del deletion Bardet-Biedl syndrome [RCV001381829] Chr11:66293584..66294288 [GRCh37]
Chr11:11q13.2		 pathogenic
NC_000011.9:g.(?_66296758)_(66307295_?)del deletion Bardet-Biedl syndrome [RCV001381830] Chr11:66296758..66307295 [GRCh37]
Chr11:11q13.2		 pathogenic
NC_000011.9:g.(?_66283154)_(66287229_?)del deletion Bardet-Biedl syndrome [RCV001381831] Chr11:66283154..66287229 [GRCh37]
Chr11:11q13.2		 pathogenic
NC_000011.9:g.(?_66288721)_(66293683_?)del deletion Bardet-Biedl syndrome [RCV001381832] Chr11:66288721..66293683 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1455A>G (p.Pro485=) single nucleotide variant Bardet-Biedl syndrome [RCV001408459] Chr11:66529934 [GRCh38]
Chr11:66297405 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1548G>C (p.Gly516=) single nucleotide variant Bardet-Biedl syndrome [RCV001401344] Chr11:66530968 [GRCh38]
Chr11:66298439 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1776C>T (p.Ala592=) single nucleotide variant BBS1-related disorder [RCV003946143]|Bardet-Biedl syndrome 1 [RCV002501541]|Bardet-Biedl syndrome [RCV001436681] Chr11:66532031 [GRCh38]
Chr11:66299502 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.382C>T (p.Gln128Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV003463020]|Bardet-Biedl syndrome [RCV001387771] Chr11:66514628 [GRCh38]
Chr11:66282099 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.96C>T (p.Ala32=) single nucleotide variant Bardet-Biedl syndrome [RCV001445375] Chr11:66511061 [GRCh38]
Chr11:66278532 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.243G>T (p.Pro81=) single nucleotide variant Bardet-Biedl syndrome [RCV001432172] Chr11:66514489 [GRCh38]
Chr11:66281960 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1533C>G (p.Thr511=) single nucleotide variant BBS1-related disorder [RCV003938791]|Bardet-Biedl syndrome [RCV001445691] Chr11:66530953 [GRCh38]
Chr11:66298424 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1365C>T (p.Asp455=) single nucleotide variant Bardet-Biedl syndrome [RCV001425975] Chr11:66529844 [GRCh38]
Chr11:66297315 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.18A>G (p.Ser6=) single nucleotide variant Bardet-Biedl syndrome [RCV001461615] Chr11:66510677 [GRCh38]
Chr11:66278148 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1140G>T (p.Arg380=) single nucleotide variant Bardet-Biedl syndrome [RCV001486504] Chr11:66526152 [GRCh38]
Chr11:66293623 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.591+212del deletion not provided [RCV001713179] Chr11:66516123 [GRCh38]
Chr11:66283594 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.1110+207A>G single nucleotide variant not provided [RCV001710598] Chr11:66524089 [GRCh38]
Chr11:66291560 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.1107C>T (p.Thr369=) single nucleotide variant Bardet-Biedl syndrome [RCV001477127] Chr11:66523879 [GRCh38]
Chr11:66291350 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1380C>A (p.Arg460=) single nucleotide variant Bardet-Biedl syndrome [RCV001463286] Chr11:66529859 [GRCh38]
Chr11:66297330 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.724-305C>T single nucleotide variant not provided [RCV001652214] Chr11:66520965 [GRCh38]
Chr11:66288436 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.1302C>T (p.Tyr434=) single nucleotide variant Bardet-Biedl syndrome [RCV001505363] Chr11:66526770 [GRCh38]
Chr11:66294241 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.27C>T (p.Ser9=) single nucleotide variant Bardet-Biedl syndrome [RCV001460647] Chr11:66510686 [GRCh38]
Chr11:66278157 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.592-21A>T single nucleotide variant Retinitis pigmentosa [RCV001724837] Chr11:66519596 [GRCh38]
Chr11:66287067 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.466C>T (p.Leu156=) single nucleotide variant Bardet-Biedl syndrome [RCV001501482] Chr11:66515573 [GRCh38]
Chr11:66283044 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1189C>T (p.Leu397=) single nucleotide variant Bardet-Biedl syndrome [RCV001456963] Chr11:66526657 [GRCh38]
Chr11:66294128 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.589C>T (p.Gln197Ter) single nucleotide variant Bardet-Biedl syndrome [RCV003222339]|not provided [RCV001700570] Chr11:66515931 [GRCh38]
Chr11:66283402 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1470C>T (p.Ala490=) single nucleotide variant BBS1-related disorder [RCV003900630]|Bardet-Biedl syndrome 1 [RCV002476782]|Bardet-Biedl syndrome [RCV001472817] Chr11:66529949 [GRCh38]
Chr11:66297420 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1245G>A (p.Val415=) single nucleotide variant Bardet-Biedl syndrome [RCV001431194] Chr11:66526713 [GRCh38]
Chr11:66294184 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.903C>T (p.Val301=) single nucleotide variant Bardet-Biedl syndrome [RCV001450832] Chr11:66523528 [GRCh38]
Chr11:66290999 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.234C>T (p.Thr78=) single nucleotide variant BBS1-related disorder [RCV003980456]|Bardet-Biedl syndrome [RCV001504448] Chr11:66514480 [GRCh38]
Chr11:66281951 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.160-7C>T single nucleotide variant Bardet-Biedl syndrome [RCV001473077] Chr11:66514399 [GRCh38]
Chr11:66281870 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1266C>T (p.Ala422=) single nucleotide variant Bardet-Biedl syndrome [RCV001473415] Chr11:66526734 [GRCh38]
Chr11:66294205 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.591+10_591+11dup duplication Bardet-Biedl syndrome [RCV001520517] Chr11:66515939..66515940 [GRCh38]
Chr11:66283410..66283411 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.47+9A>T single nucleotide variant Bardet-Biedl syndrome [RCV001506140] Chr11:66510715 [GRCh38]
Chr11:66278186 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.336C>A (p.Val112=) single nucleotide variant Bardet-Biedl syndrome [RCV001490786] Chr11:66514582 [GRCh38]
Chr11:66282053 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1638C>T (p.Tyr546=) single nucleotide variant Bardet-Biedl syndrome [RCV001495964] Chr11:66531685 [GRCh38]
Chr11:66299156 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1657G>T (p.Glu553Ter) single nucleotide variant Bardet-Biedl syndrome [RCV001390868] Chr11:66531704 [GRCh38]
Chr11:66299175 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.945C>A (p.Thr315=) single nucleotide variant Bardet-Biedl syndrome [RCV001451399] Chr11:66523570 [GRCh38]
Chr11:66291041 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1557C>A (p.Val519=) single nucleotide variant Bardet-Biedl syndrome [RCV001484858] Chr11:66530977 [GRCh38]
Chr11:66298448 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.70T>C (p.Leu24=) single nucleotide variant Bardet-Biedl syndrome [RCV001451817] Chr11:66511035 [GRCh38]
Chr11:66278506 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.234C>G (p.Thr78=) single nucleotide variant Bardet-Biedl syndrome [RCV001457832] Chr11:66514480 [GRCh38]
Chr11:66281951 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.483G>A (p.Glu161=) single nucleotide variant Bardet-Biedl syndrome [RCV001467631] Chr11:66515696 [GRCh38]
Chr11:66283167 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.132A>G (p.Ala44=) single nucleotide variant Bardet-Biedl syndrome [RCV001406580] Chr11:66511212 [GRCh38]
Chr11:66278683 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.951+10C>T single nucleotide variant Bardet-Biedl syndrome [RCV001496488] Chr11:66523586 [GRCh38]
Chr11:66291057 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1006C>T (p.Leu336=) single nucleotide variant Bardet-Biedl syndrome [RCV001415616] Chr11:66523778 [GRCh38]
Chr11:66291249 [GRCh37]
Chr11:11q13.2		 likely benign
NC_000011.9:g.(?_66291682)_(66293673_?)del deletion Bardet-Biedl syndrome [RCV001389418] Chr11:66291682..66293673 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1203C>T (p.Ile401=) single nucleotide variant Bardet-Biedl syndrome [RCV001402397] Chr11:66526671 [GRCh38]
Chr11:66294142 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.12G>A (p.Ala4=) single nucleotide variant Bardet-Biedl syndrome [RCV001400686] Chr11:66510671 [GRCh38]
Chr11:66278142 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1392C>T (p.Ala464=) single nucleotide variant Bardet-Biedl syndrome [RCV001402455] Chr11:66529871 [GRCh38]
Chr11:66297342 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.48-9C>T single nucleotide variant Bardet-Biedl syndrome [RCV001418214] Chr11:66511004 [GRCh38]
Chr11:66278475 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.225G>A (p.Leu75=) single nucleotide variant Bardet-Biedl syndrome [RCV001477005] Chr11:66514471 [GRCh38]
Chr11:66281942 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.102C>T (p.Ile34=) single nucleotide variant Bardet-Biedl syndrome [RCV001462054] Chr11:66511067 [GRCh38]
Chr11:66278538 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1683A>G (p.Ser561=) single nucleotide variant Bardet-Biedl syndrome [RCV001418576] Chr11:66531730 [GRCh38]
Chr11:66299201 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1671C>T (p.Asn557=) single nucleotide variant Bardet-Biedl syndrome [RCV001489095] Chr11:66531718 [GRCh38]
Chr11:66299189 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1180+116T>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV001538062] Chr11:66526308 [GRCh38]
Chr11:66293779 [GRCh37]
Chr11:11q13.2		 benign
NM_024649.5(BBS1):c.1608+9T>C single nucleotide variant Bardet-Biedl syndrome [RCV001495138] Chr11:66531037 [GRCh38]
Chr11:66298508 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.384A>G (p.Gln128=) single nucleotide variant Bardet-Biedl syndrome [RCV001485590] Chr11:66514630 [GRCh38]
Chr11:66282101 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.339T>C (p.Tyr113=) single nucleotide variant BBS1-related disorder [RCV003908574]|Bardet-Biedl syndrome [RCV001402759] Chr11:66514585 [GRCh38]
Chr11:66282056 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1194C>T (p.Ile398=) single nucleotide variant Bardet-Biedl syndrome [RCV001405391] Chr11:66526662 [GRCh38]
Chr11:66294133 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.591+10C>A single nucleotide variant Bardet-Biedl syndrome [RCV001484141] Chr11:66515943 [GRCh38]
Chr11:66283414 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.48-11C>T single nucleotide variant Bardet-Biedl syndrome [RCV001468361] Chr11:66511002 [GRCh38]
Chr11:66278473 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1473+3G>A single nucleotide variant Bardet-Biedl syndrome [RCV003110779] Chr11:66529955 [GRCh38]
Chr11:66297426 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.48-1G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV001730053]|Bardet-Biedl syndrome [RCV001882796] Chr11:66511012 [GRCh38]
Chr11:66278483 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1110+329C>T single nucleotide variant Bardet-Biedl syndrome 1 [RCV003464425]|Bardet-Biedl syndrome [RCV002271752] Chr11:66524211 [GRCh38]
Chr11:66291682 [GRCh37]
Chr11:11q13.2		 likely pathogenic|conflicting interpretations of pathogenicity
NM_024649.5(BBS1):c.1339+5G>A single nucleotide variant Bardet-Biedl syndrome [RCV002543955]|not provided [RCV001758310] Chr11:66526812 [GRCh38]
Chr11:66294283 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1439C>G (p.Thr480Arg) single nucleotide variant not specified [RCV001817525] Chr11:66529918 [GRCh38]
Chr11:66297389 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1121C>G (p.Thr374Ser) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001810547]|Retinal dystrophy [RCV003888324]|not specified [RCV003487792] Chr11:66526133 [GRCh38]
Chr11:66293604 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.485C>T (p.Thr162Met) single nucleotide variant BBS1-related disorder [RCV003976223]|Bardet-Biedl syndrome [RCV002542571]|Inborn genetic diseases [RCV002542570]|Retinal dystrophy [RCV003888325]|not specified [RCV001819466] Chr11:66515698 [GRCh38]
Chr11:66283169 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1640C>A (p.Pro547His) single nucleotide variant Bardet-Biedl syndrome [RCV001885337]|not specified [RCV001819587] Chr11:66531687 [GRCh38]
Chr11:66299158 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.802C>T (p.Arg268Cys) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002489867]|Bardet-Biedl syndrome [RCV002541961]|not specified [RCV001822258] Chr11:66521348 [GRCh38]
Chr11:66288819 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.976A>T (p.Met326Leu) single nucleotide variant not specified [RCV001820312] Chr11:66523748 [GRCh38]
Chr11:66291219 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.127C>G (p.Leu43Val) single nucleotide variant not specified [RCV001822800] Chr11:66511207 [GRCh38]
Chr11:66278678 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.130del (p.Ala44fs) deletion Bardet-Biedl syndrome 1 [RCV001823857] Chr11:66511209 [GRCh38]
Chr11:66278680 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1164CAT[1] (p.Ile389del) microsatellite Bardet-Biedl syndrome [RCV001876407] Chr11:66526175..66526177 [GRCh38]
Chr11:66293646..66293648 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.464T>C (p.Met155Thr) single nucleotide variant Bardet-Biedl syndrome [RCV001950722] Chr11:66515571 [GRCh38]
Chr11:66283042 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1246G>T (p.Gly416Cys) single nucleotide variant Bardet-Biedl syndrome [RCV002012519]|Inborn genetic diseases [RCV004045389] Chr11:66526714 [GRCh38]
Chr11:66294185 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.83A>G (p.Tyr28Cys) single nucleotide variant Bardet-Biedl syndrome [RCV001987079] Chr11:66511048 [GRCh38]
Chr11:66278519 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.907G>C (p.Val303Leu) single nucleotide variant Bardet-Biedl syndrome [RCV002015583] Chr11:66523532 [GRCh38]
Chr11:66291003 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.533A>G (p.Glu178Gly) single nucleotide variant Bardet-Biedl syndrome [RCV001969444] Chr11:66515875 [GRCh38]
Chr11:66283346 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1687A>G (p.Ile563Val) single nucleotide variant Bardet-Biedl syndrome [RCV002029307] Chr11:66531734 [GRCh38]
Chr11:66299205 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_66283001)_(66287229_?)del deletion Bardet-Biedl syndrome [RCV001929522] Chr11:66283001..66287229 [GRCh37]
Chr11:11q13.2		 pathogenic
NC_000011.9:g.(?_66293574)_(66299508_?)del deletion Bardet-Biedl syndrome [RCV001949429] Chr11:66293574..66299508 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.518+20C>T single nucleotide variant Bardet-Biedl syndrome [RCV002020596] Chr11:66515751 [GRCh38]
Chr11:66283222 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.1474G>T (p.Val492Phe) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002507688]|Bardet-Biedl syndrome [RCV002004849]|Inborn genetic diseases [RCV002564358] Chr11:66530894 [GRCh38]
Chr11:66298365 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_64522783)_(66283694_?)del deletion Bardet-Biedl syndrome [RCV002014493]|Glycogen storage disease, type V [RCV002004587] Chr11:64522783..66283694 [GRCh37]
Chr11:11q13.1-13.2		 pathogenic
NM_024649.5(BBS1):c.1516C>T (p.Gln506Ter) single nucleotide variant Bardet-Biedl syndrome [RCV002035351] Chr11:66530936 [GRCh38]
Chr11:66298407 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1110+1G>C single nucleotide variant Bardet-Biedl syndrome [RCV002036324] Chr11:66523883 [GRCh38]
Chr11:66291354 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.491A>G (p.Glu164Gly) single nucleotide variant Bardet-Biedl syndrome [RCV001985858]|Inborn genetic diseases [RCV002573531] Chr11:66515704 [GRCh38]
Chr11:66283175 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1491del (p.Thr498fs) deletion Bardet-Biedl syndrome [RCV002007222] Chr11:66530908 [GRCh38]
Chr11:66298379 [GRCh37]
Chr11:11q13.2		 pathogenic
GRCh37/hg19 11q13.2(chr11:65963737-66581485)x1 copy number loss not provided [RCV001827874] Chr11:65963737..66581485 [GRCh37]
Chr11:11q13.2		 uncertain significance
GRCh37/hg19 11q13.2(chr11:66188172-66402747) copy number gain not specified [RCV002052931] Chr11:66188172..66402747 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.908T>C (p.Val303Ala) single nucleotide variant Bardet-Biedl syndrome 1 [RCV001823854]|Bardet-Biedl syndrome [RCV003120713]|Retinal dystrophy [RCV003888326] Chr11:66523533 [GRCh38]
Chr11:66291004 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1708C>T (p.Arg570Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV003138033]|Bardet-Biedl syndrome [RCV002029113] Chr11:66531963 [GRCh38]
Chr11:66299434 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NM_024649.5(BBS1):c.1396G>A (p.Ala466Thr) single nucleotide variant Bardet-Biedl syndrome [RCV002027215] Chr11:66529875 [GRCh38]
Chr11:66297346 [GRCh37]
Chr11:11q13.2		 uncertain significance
GRCh37/hg19 11q13.1-13.2(chr11:64935724-66405514) copy number loss not specified [RCV002052930] Chr11:64935724..66405514 [GRCh37]
Chr11:11q13.1-13.2		 uncertain significance
NM_024649.5(BBS1):c.88C>A (p.Pro30Thr) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002478136]|Bardet-Biedl syndrome [RCV001894400] Chr11:66511053 [GRCh38]
Chr11:66278524 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1184G>T (p.Gly395Val) single nucleotide variant Bardet-Biedl syndrome [RCV002006550] Chr11:66526652 [GRCh38]
Chr11:66294123 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.551C>T (p.Ala184Val) single nucleotide variant Bardet-Biedl syndrome [RCV002002079] Chr11:66515893 [GRCh38]
Chr11:66283364 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.338A>T (p.Tyr113Phe) single nucleotide variant Bardet-Biedl syndrome [RCV002046793] Chr11:66514584 [GRCh38]
Chr11:66282055 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.104A>G (p.His35Arg) single nucleotide variant Bardet-Biedl syndrome [RCV001941125] Chr11:66511069 [GRCh38]
Chr11:66278540 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1564del (p.Leu522fs) deletion Bardet-Biedl syndrome 1 [RCV003464263]|Bardet-Biedl syndrome [RCV001962560] Chr11:66530983 [GRCh38]
Chr11:66298454 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic
NC_000011.9:g.(?_66278121)_(66291363_?)del deletion Bardet-Biedl syndrome [RCV001963039] Chr11:66278121..66291363 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.607del (p.Thr202_Met203insTer) deletion Bardet-Biedl syndrome 1 [RCV003464322]|Bardet-Biedl syndrome [RCV001963048] Chr11:66519632 [GRCh38]
Chr11:66287103 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1777G>A (p.Ala593Thr) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002484527]|Bardet-Biedl syndrome [RCV001938634] Chr11:66532032 [GRCh38]
Chr11:66299503 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1752G>A (p.Met584Ile) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002503463]|Bardet-Biedl syndrome [RCV001883726] Chr11:66532007 [GRCh38]
Chr11:66299478 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1714G>A (p.Gly572Ser) single nucleotide variant Bardet-Biedl syndrome [RCV001971796] Chr11:66531969 [GRCh38]
Chr11:66299440 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1295G>A (p.Arg432Gln) single nucleotide variant Bardet-Biedl syndrome [RCV001889516] Chr11:66526763 [GRCh38]
Chr11:66294234 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1294C>T (p.Arg432Trp) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002479531]|Bardet-Biedl syndrome [RCV001950362] Chr11:66526762 [GRCh38]
Chr11:66294233 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_66290917)_(66291363_?)del deletion Bardet-Biedl syndrome [RCV001975109] Chr11:66290917..66291363 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1487G>A (p.Gly496Asp) single nucleotide variant Bardet-Biedl syndrome [RCV001954172] Chr11:66530907 [GRCh38]
Chr11:66298378 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1448G>A (p.Arg483Gln) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002484742]|Bardet-Biedl syndrome [RCV001982657]|Retinal dystrophy [RCV003888935] Chr11:66529927 [GRCh38]
Chr11:66297398 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.256C>T (p.Pro86Ser) single nucleotide variant Bardet-Biedl syndrome [RCV001877674] Chr11:66514502 [GRCh38]
Chr11:66281973 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1210C>A (p.Arg404Ser) single nucleotide variant Bardet-Biedl syndrome [RCV001986504] Chr11:66526678 [GRCh38]
Chr11:66294149 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.952-8C>G single nucleotide variant Bardet-Biedl syndrome [RCV001988316] Chr11:66523716 [GRCh38]
Chr11:66291187 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.159+2del deletion Bardet-Biedl syndrome 1 [RCV003464390]|Bardet-Biedl syndrome [RCV002045926] Chr11:66511241 [GRCh38]
Chr11:66278712 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.32C>T (p.Ala11Val) single nucleotide variant Bardet-Biedl syndrome [RCV001876681] Chr11:66510691 [GRCh38]
Chr11:66278162 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.999G>A (p.Met333Ile) single nucleotide variant Bardet-Biedl syndrome [RCV001880346] Chr11:66523771 [GRCh38]
Chr11:66291242 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.724-5T>A single nucleotide variant Bardet-Biedl syndrome [RCV001882081] Chr11:66521265 [GRCh38]
Chr11:66288736 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1A>G (p.Met1Val) single nucleotide variant Bardet-Biedl syndrome [RCV001953605] Chr11:66510660 [GRCh38]
Chr11:66278131 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.724-15G>A single nucleotide variant Bardet-Biedl syndrome [RCV001884431] Chr11:66521255 [GRCh38]
Chr11:66288726 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.938G>A (p.Gly313Asp) single nucleotide variant Bardet-Biedl syndrome [RCV001911729] Chr11:66523563 [GRCh38]
Chr11:66291034 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.890G>A (p.Arg297Gln) single nucleotide variant Bardet-Biedl syndrome [RCV001888311]|not specified [RCV003155436] Chr11:66523515 [GRCh38]
Chr11:66290986 [GRCh37]
Chr11:11q13.2		 pathogenic|likely pathogenic|uncertain significance
NM_024649.5(BBS1):c.731T>C (p.Leu244Pro) single nucleotide variant Bardet-Biedl syndrome [RCV001916978] Chr11:66521277 [GRCh38]
Chr11:66288748 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.316C>T (p.Leu106Phe) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002490109]|Bardet-Biedl syndrome [RCV001922178] Chr11:66514562 [GRCh38]
Chr11:66282033 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1673A>G (p.Lys558Arg) single nucleotide variant Bardet-Biedl syndrome [RCV001889088] Chr11:66531720 [GRCh38]
Chr11:66299191 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1303G>A (p.Val435Met) single nucleotide variant BBS1-related disorder [RCV003395263]|Bardet-Biedl syndrome [RCV001891020] Chr11:66526771 [GRCh38]
Chr11:66294242 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.199C>T (p.Arg67Cys) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002482780]|Bardet-Biedl syndrome [RCV001934991] Chr11:66514445 [GRCh38]
Chr11:66281916 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.337T>C (p.Tyr113His) single nucleotide variant Bardet-Biedl syndrome [RCV001940862] Chr11:66514583 [GRCh38]
Chr11:66282054 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1442C>T (p.Thr481Ile) single nucleotide variant Bardet-Biedl syndrome [RCV001896997] Chr11:66529921 [GRCh38]
Chr11:66297392 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1175C>A (p.Thr392Asn) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002507631]|Bardet-Biedl syndrome [RCV001984617]|Inborn genetic diseases [RCV003289259] Chr11:66526187 [GRCh38]
Chr11:66293658 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1474-1G>A single nucleotide variant Bardet-Biedl syndrome [RCV001985950] Chr11:66530893 [GRCh38]
Chr11:66298364 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1385_1401dup (p.Leu468fs) duplication Bardet-Biedl syndrome [RCV001900483] Chr11:66529855..66529856 [GRCh38]
Chr11:66297326..66297327 [GRCh37]
Chr11:11q13.2		 pathogenic
NC_000011.9:g.(?_66290917)_(66294288_?)dup duplication Bardet-Biedl syndrome [RCV002031975] Chr11:66290917..66294288 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.745G>A (p.Val249Ile) single nucleotide variant BBS1-related disorder [RCV003395275]|Bardet-Biedl syndrome [RCV001906700]|not specified [RCV002266056] Chr11:66521291 [GRCh38]
Chr11:66288762 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_66281867)_(66288857_?)dup duplication Bardet-Biedl syndrome [RCV002031981] Chr11:66281867..66288857 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1693A>G (p.Lys565Glu) single nucleotide variant Bardet-Biedl syndrome [RCV001934717] Chr11:66531740 [GRCh38]
Chr11:66299211 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_66278131)_(66278730_?)dup duplication Bardet-Biedl syndrome [RCV001939252] Chr11:66278131..66278730 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1108C>T (p.Pro370Ser) single nucleotide variant Bardet-Biedl syndrome [RCV001968275] Chr11:66523880 [GRCh38]
Chr11:66291351 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.931C>T (p.Leu311=) single nucleotide variant Bardet-Biedl syndrome [RCV001917065] Chr11:66523556 [GRCh38]
Chr11:66291027 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1600_1601delinsGC (p.Phe534Ala) indel Bardet-Biedl syndrome [RCV001973666] Chr11:66531020..66531021 [GRCh38]
Chr11:66298491..66298492 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.10G>T (p.Ala4Ser) single nucleotide variant BBS1-related disorder [RCV003401819]|Bardet-Biedl syndrome 1 [RCV002482621]|Bardet-Biedl syndrome [RCV001883574] Chr11:66510669 [GRCh38]
Chr11:66278140 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.729C>A (p.Ser243Arg) single nucleotide variant Bardet-Biedl syndrome [RCV001915018] Chr11:66521275 [GRCh38]
Chr11:66288746 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.184G>C (p.Gly62Arg) single nucleotide variant Bardet-Biedl syndrome [RCV001938327] Chr11:66514430 [GRCh38]
Chr11:66281901 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.514C>T (p.Leu172Phe) single nucleotide variant Bardet-Biedl syndrome [RCV001906838] Chr11:66515727 [GRCh38]
Chr11:66283198 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.951+3G>A single nucleotide variant Bardet-Biedl syndrome [RCV001958499] Chr11:66523579 [GRCh38]
Chr11:66291050 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.808G>A (p.Gly270Arg) single nucleotide variant BBS1-related disorder [RCV003402021]|Bardet-Biedl syndrome 1 [RCV002497978]|Bardet-Biedl syndrome [RCV001978619] Chr11:66521354 [GRCh38]
Chr11:66288825 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.756G>C (p.Glu252Asp) single nucleotide variant Bardet-Biedl syndrome [RCV001920441] Chr11:66521302 [GRCh38]
Chr11:66288773 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.43G>A (p.Glu15Lys) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002479550]|Bardet-Biedl syndrome [RCV001992669] Chr11:66510702 [GRCh38]
Chr11:66278173 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.445C>T (p.Pro149Ser) single nucleotide variant Bardet-Biedl syndrome [RCV002009582] Chr11:66515552 [GRCh38]
Chr11:66283023 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1695+1G>A single nucleotide variant Bardet-Biedl syndrome [RCV001980127] Chr11:66531743 [GRCh38]
Chr11:66299214 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1471G>A (p.Val491Met) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002503611]|Bardet-Biedl syndrome [RCV001943416] Chr11:66529950 [GRCh38]
Chr11:66297421 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.999G>T (p.Met333Ile) single nucleotide variant Bardet-Biedl syndrome [RCV001983175] Chr11:66523771 [GRCh38]
Chr11:66291242 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.201C>T (p.Arg67=) single nucleotide variant Bardet-Biedl syndrome [RCV002048127] Chr11:66514447 [GRCh38]
Chr11:66281918 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.818A>G (p.Tyr273Cys) single nucleotide variant Bardet-Biedl syndrome [RCV001909358] Chr11:66521364 [GRCh38]
Chr11:66288835 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1066C>T (p.Arg356Cys) single nucleotide variant Bardet-Biedl syndrome [RCV001949740] Chr11:66523838 [GRCh38]
Chr11:66291309 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.592-20C>G single nucleotide variant Bardet-Biedl syndrome [RCV001920800] Chr11:66519597 [GRCh38]
Chr11:66287068 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.795G>A (p.Ala265=) single nucleotide variant Bardet-Biedl syndrome [RCV001913685] Chr11:66521341 [GRCh38]
Chr11:66288812 [GRCh37]
Chr11:11q13.2		 likely benign|uncertain significance
NM_024649.5(BBS1):c.1253C>T (p.Pro418Leu) single nucleotide variant Bardet-Biedl syndrome [RCV001931738] Chr11:66526721 [GRCh38]
Chr11:66294192 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.837C>T (p.Ser279=) single nucleotide variant Bardet-Biedl syndrome [RCV002078519] Chr11:66523462 [GRCh38]
Chr11:66290933 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1474-18C>T single nucleotide variant Bardet-Biedl syndrome [RCV002094079] Chr11:66530876 [GRCh38]
Chr11:66298347 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1608+16C>T single nucleotide variant Bardet-Biedl syndrome [RCV002108727] Chr11:66531044 [GRCh38]
Chr11:66298515 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.830+72A>G single nucleotide variant Bardet-Biedl syndrome 1 [RCV002225238] Chr11:66521448 [GRCh38]
Chr11:66288919 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1728C>T (p.Pro576=) single nucleotide variant Bardet-Biedl syndrome [RCV002142546] Chr11:66531983 [GRCh38]
Chr11:66299454 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1781G>A (p.Ter594=) single nucleotide variant Bardet-Biedl syndrome [RCV002112934] Chr11:66532036 [GRCh38]
Chr11:66299507 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.591+18T>G single nucleotide variant Bardet-Biedl syndrome [RCV002105671] Chr11:66515951 [GRCh38]
Chr11:66283422 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1181-4C>A single nucleotide variant Bardet-Biedl syndrome [RCV002163529] Chr11:66526645 [GRCh38]
Chr11:66294116 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.592-19C>T single nucleotide variant Bardet-Biedl syndrome [RCV002104664] Chr11:66519598 [GRCh38]
Chr11:66287069 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1111-8C>T single nucleotide variant Bardet-Biedl syndrome [RCV002121121] Chr11:66526115 [GRCh38]
Chr11:66293586 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.830+9A>T single nucleotide variant Bardet-Biedl syndrome [RCV002181423] Chr11:66521385 [GRCh38]
Chr11:66288856 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1341C>T (p.Ala447=) single nucleotide variant Bardet-Biedl syndrome [RCV002150263] Chr11:66529820 [GRCh38]
Chr11:66297291 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.921C>G (p.Thr307=) single nucleotide variant Bardet-Biedl syndrome [RCV002153692] Chr11:66523546 [GRCh38]
Chr11:66291017 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1596G>A (p.Arg532=) single nucleotide variant Bardet-Biedl syndrome [RCV002080506] Chr11:66531016 [GRCh38]
Chr11:66298487 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1764G>A (p.Glu588=) single nucleotide variant Bardet-Biedl syndrome [RCV002206161] Chr11:66532019 [GRCh38]
Chr11:66299490 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.267T>C (p.Ala89=) single nucleotide variant Bardet-Biedl syndrome [RCV002169785] Chr11:66514513 [GRCh38]
Chr11:66281984 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1111-12G>A single nucleotide variant Bardet-Biedl syndrome [RCV002169098] Chr11:66526111 [GRCh38]
Chr11:66293582 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1134T>C (p.Phe378=) single nucleotide variant Bardet-Biedl syndrome [RCV002170503] Chr11:66526146 [GRCh38]
Chr11:66293617 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1111-10C>T single nucleotide variant Bardet-Biedl syndrome [RCV002178668] Chr11:66526113 [GRCh38]
Chr11:66293584 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1110+20T>A single nucleotide variant Bardet-Biedl syndrome [RCV002213323] Chr11:66523902 [GRCh38]
Chr11:66291373 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1348C>A (p.Arg450=) single nucleotide variant Bardet-Biedl syndrome [RCV002217889] Chr11:66529827 [GRCh38]
Chr11:66297298 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.159+13C>A single nucleotide variant Bardet-Biedl syndrome [RCV002112228] Chr11:66511252 [GRCh38]
Chr11:66278723 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1111-13C>T single nucleotide variant Bardet-Biedl syndrome [RCV002117506] Chr11:66526110 [GRCh38]
Chr11:66293581 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1734G>C (p.Leu578=) single nucleotide variant Bardet-Biedl syndrome [RCV002124291] Chr11:66531989 [GRCh38]
Chr11:66299460 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.831-15T>G single nucleotide variant Bardet-Biedl syndrome [RCV002130116] Chr11:66523441 [GRCh38]
Chr11:66290912 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.930C>T (p.Ser310=) single nucleotide variant Bardet-Biedl syndrome [RCV002128813] Chr11:66523555 [GRCh38]
Chr11:66291026 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.479+20T>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV002494376]|Bardet-Biedl syndrome [RCV002106551] Chr11:66515606 [GRCh38]
Chr11:66283077 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.102C>A (p.Ile34=) single nucleotide variant Bardet-Biedl syndrome [RCV002106613] Chr11:66511067 [GRCh38]
Chr11:66278538 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.285G>A (p.Glu95=) single nucleotide variant Bardet-Biedl syndrome [RCV002088057] Chr11:66514531 [GRCh38]
Chr11:66282002 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1410C>G (p.Ala470=) single nucleotide variant Bardet-Biedl syndrome [RCV002155853] Chr11:66529889 [GRCh38]
Chr11:66297360 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1578G>T (p.Ala526=) single nucleotide variant Bardet-Biedl syndrome [RCV002160407] Chr11:66530998 [GRCh38]
Chr11:66298469 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1464G>T (p.Leu488=) single nucleotide variant Bardet-Biedl syndrome [RCV002162073] Chr11:66529943 [GRCh38]
Chr11:66297414 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.831-20G>A single nucleotide variant Bardet-Biedl syndrome [RCV002172430] Chr11:66523436 [GRCh38]
Chr11:66290907 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.519-20C>G single nucleotide variant Bardet-Biedl syndrome [RCV002127830] Chr11:66515841 [GRCh38]
Chr11:66283312 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.849G>A (p.Lys283=) single nucleotide variant Bardet-Biedl syndrome [RCV002186450] Chr11:66523474 [GRCh38]
Chr11:66290945 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1413C>G (p.Leu471=) single nucleotide variant Bardet-Biedl syndrome [RCV002109188] Chr11:66529892 [GRCh38]
Chr11:66297363 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1608+8A>G single nucleotide variant Bardet-Biedl syndrome [RCV002193905] Chr11:66531036 [GRCh38]
Chr11:66298507 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1340-10T>G single nucleotide variant Bardet-Biedl syndrome [RCV002194124] Chr11:66529809 [GRCh38]
Chr11:66297280 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.777T>C (p.Val259=) single nucleotide variant Bardet-Biedl syndrome [RCV002195662] Chr11:66521323 [GRCh38]
Chr11:66288794 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.830+10T>G single nucleotide variant Bardet-Biedl syndrome [RCV002092105] Chr11:66521386 [GRCh38]
Chr11:66288857 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1740C>T (p.Ala580=) single nucleotide variant Bardet-Biedl syndrome [RCV002099445] Chr11:66531995 [GRCh38]
Chr11:66299466 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1692C>T (p.Ile564=) single nucleotide variant Bardet-Biedl syndrome [RCV002081256] Chr11:66531739 [GRCh38]
Chr11:66299210 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1551G>C (p.Leu517=) single nucleotide variant Bardet-Biedl syndrome [RCV002206364] Chr11:66530971 [GRCh38]
Chr11:66298442 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1473+16A>T single nucleotide variant Bardet-Biedl syndrome [RCV002208027] Chr11:66529968 [GRCh38]
Chr11:66297439 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.699C>T (p.Pro233=) single nucleotide variant Bardet-Biedl syndrome [RCV002172648] Chr11:66519724 [GRCh38]
Chr11:66287195 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.432+14A>C single nucleotide variant Bardet-Biedl syndrome [RCV002173919] Chr11:66514692 [GRCh38]
Chr11:66282163 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1524C>T (p.Thr508=) single nucleotide variant Bardet-Biedl syndrome [RCV002199258] Chr11:66530944 [GRCh38]
Chr11:66298415 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.592-7T>C single nucleotide variant Bardet-Biedl syndrome [RCV002215710] Chr11:66519610 [GRCh38]
Chr11:66287081 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.160-5T>G single nucleotide variant Bardet-Biedl syndrome [RCV002170801] Chr11:66514401 [GRCh38]
Chr11:66281872 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1200G>A (p.Lys400=) single nucleotide variant Bardet-Biedl syndrome [RCV002082041] Chr11:66526668 [GRCh38]
Chr11:66294139 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.830+12del deletion Bardet-Biedl syndrome 1 [RCV002494165]|Bardet-Biedl syndrome [RCV002083799] Chr11:66521387 [GRCh38]
Chr11:66288858 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.952-20C>A single nucleotide variant Bardet-Biedl syndrome [RCV002083896] Chr11:66523704 [GRCh38]
Chr11:66291175 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.606C>T (p.Thr202=) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002508038]|Bardet-Biedl syndrome [RCV002149811] Chr11:66519631 [GRCh38]
Chr11:66287102 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.816C>T (p.Ile272=) single nucleotide variant Bardet-Biedl syndrome [RCV002096798] Chr11:66521362 [GRCh38]
Chr11:66288833 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1339+16G>A single nucleotide variant Bardet-Biedl syndrome [RCV002109131] Chr11:66526823 [GRCh38]
Chr11:66294294 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1437C>T (p.Ser479=) single nucleotide variant Bardet-Biedl syndrome [RCV002110649] Chr11:66529916 [GRCh38]
Chr11:66297387 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.21G>T (p.Ser7=) single nucleotide variant Bardet-Biedl syndrome [RCV002208987] Chr11:66510680 [GRCh38]
Chr11:66278151 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.432+17G>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV002494435]|Bardet-Biedl syndrome [RCV002150774] Chr11:66514695 [GRCh38]
Chr11:66282166 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.585G>A (p.Lys195=) single nucleotide variant Bardet-Biedl syndrome [RCV002197614] Chr11:66515927 [GRCh38]
Chr11:66283398 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.939C>T (p.Gly313=) single nucleotide variant BBS1-related disorder [RCV003933559]|Bardet-Biedl syndrome [RCV002123100] Chr11:66523564 [GRCh38]
Chr11:66291035 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.47+19A>G single nucleotide variant Bardet-Biedl syndrome [RCV002095910] Chr11:66510725 [GRCh38]
Chr11:66278196 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.535C>T (p.Leu179=) single nucleotide variant Bardet-Biedl syndrome [RCV002188177] Chr11:66515877 [GRCh38]
Chr11:66283348 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.342G>A (p.Val114=) single nucleotide variant Bardet-Biedl syndrome [RCV002196483] Chr11:66514588 [GRCh38]
Chr11:66282059 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.124+17A>C single nucleotide variant Bardet-Biedl syndrome [RCV002170612] Chr11:66511106 [GRCh38]
Chr11:66278577 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.592-11T>A single nucleotide variant Bardet-Biedl syndrome [RCV002092677] Chr11:66519606 [GRCh38]
Chr11:66287077 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.687G>A (p.Leu229=) single nucleotide variant Bardet-Biedl syndrome [RCV002071482] Chr11:66519712 [GRCh38]
Chr11:66287183 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1641C>A (p.Pro547=) single nucleotide variant Bardet-Biedl syndrome [RCV002075746] Chr11:66531688 [GRCh38]
Chr11:66299159 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.591+8C>T single nucleotide variant Bardet-Biedl syndrome [RCV002211526] Chr11:66515941 [GRCh38]
Chr11:66283412 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.369G>A (p.Lys123=) single nucleotide variant Bardet-Biedl syndrome [RCV002105995] Chr11:66514615 [GRCh38]
Chr11:66282086 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.952-7C>T single nucleotide variant Bardet-Biedl syndrome [RCV002208576] Chr11:66523717 [GRCh38]
Chr11:66291188 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.952-19G>A single nucleotide variant Bardet-Biedl syndrome [RCV002210622] Chr11:66523705 [GRCh38]
Chr11:66291176 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1181-14G>C single nucleotide variant Bardet-Biedl syndrome [RCV002214625] Chr11:66526635 [GRCh38]
Chr11:66294106 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.705C>T (p.Ala235=) single nucleotide variant Bardet-Biedl syndrome [RCV002169597] Chr11:66519730 [GRCh38]
Chr11:66287201 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.124+13A>G single nucleotide variant Bardet-Biedl syndrome [RCV002114181] Chr11:66511102 [GRCh38]
Chr11:66278573 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.696C>T (p.Asp232=) single nucleotide variant Bardet-Biedl syndrome [RCV002114811] Chr11:66519721 [GRCh38]
Chr11:66287192 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.159+11C>T single nucleotide variant Bardet-Biedl syndrome [RCV002134644] Chr11:66511250 [GRCh38]
Chr11:66278721 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1572C>T (p.Asn524=) single nucleotide variant Bardet-Biedl syndrome [RCV002113084] Chr11:66530992 [GRCh38]
Chr11:66298463 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.124+19G>C single nucleotide variant Bardet-Biedl syndrome [RCV002112085] Chr11:66511108 [GRCh38]
Chr11:66278579 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.400C>T (p.Leu134=) single nucleotide variant Bardet-Biedl syndrome [RCV002195021] Chr11:66514646 [GRCh38]
Chr11:66282117 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.18A>T (p.Ser6=) single nucleotide variant Bardet-Biedl syndrome [RCV002114351] Chr11:66510677 [GRCh38]
Chr11:66278148 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.48-4C>G single nucleotide variant Bardet-Biedl syndrome [RCV002140701] Chr11:66511009 [GRCh38]
Chr11:66278480 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.579C>T (p.Ser193=) single nucleotide variant Bardet-Biedl syndrome [RCV002218488] Chr11:66515921 [GRCh38]
Chr11:66283392 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.125-9G>A single nucleotide variant Bardet-Biedl syndrome [RCV002156609] Chr11:66511196 [GRCh38]
Chr11:66278667 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.534G>A (p.Glu178=) single nucleotide variant Bardet-Biedl syndrome [RCV002082010] Chr11:66515876 [GRCh38]
Chr11:66283347 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.690G>A (p.Val230=) single nucleotide variant Bardet-Biedl syndrome [RCV002083115] Chr11:66519715 [GRCh38]
Chr11:66287186 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.45G>A (p.Glu15=) single nucleotide variant Bardet-Biedl syndrome [RCV002200090] Chr11:66510704 [GRCh38]
Chr11:66278175 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.558A>T (p.Val186=) single nucleotide variant Bardet-Biedl syndrome [RCV002162446] Chr11:66515900 [GRCh38]
Chr11:66283371 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.480-14C>T single nucleotide variant Bardet-Biedl syndrome [RCV002220239] Chr11:66515679 [GRCh38]
Chr11:66283150 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.63G>A (p.Ser21=) single nucleotide variant Bardet-Biedl syndrome [RCV002162975] Chr11:66511028 [GRCh38]
Chr11:66278499 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.125-11T>C single nucleotide variant Bardet-Biedl syndrome [RCV002139894] Chr11:66511194 [GRCh38]
Chr11:66278665 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.144G>A (p.Gly48=) single nucleotide variant Bardet-Biedl syndrome [RCV002118707] Chr11:66511224 [GRCh38]
Chr11:66278695 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.592-18C>A single nucleotide variant Bardet-Biedl syndrome [RCV002176487] Chr11:66519599 [GRCh38]
Chr11:66287070 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.433-20C>G single nucleotide variant Bardet-Biedl syndrome [RCV002082885] Chr11:66515520 [GRCh38]
Chr11:66282991 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.48-8A>G single nucleotide variant Bardet-Biedl syndrome [RCV002182905] Chr11:66511005 [GRCh38]
Chr11:66278476 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.237A>G (p.Glu79=) single nucleotide variant Bardet-Biedl syndrome [RCV002098951] Chr11:66514483 [GRCh38]
Chr11:66281954 [GRCh37]
Chr11:11q13.2		 likely benign
NC_000011.9:g.(?_66099747)_(66291373_?)dup duplication Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 [RCV003109574] Chr11:66099747..66291373 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(?_66287078)_(66291105_?)del deletion Bardet-Biedl syndrome [RCV003122683] Chr11:66287078..66291105 [GRCh37]
Chr11:11q13.2		 pathogenic
NC_000011.9:g.(?_66293041)_(66297307_?)del deletion Bardet-Biedl syndrome [RCV003122684] Chr11:66293041..66297307 [GRCh37]
Chr11:11q13.2		 pathogenic
NC_000011.9:g.(?_66278131)_(66283424_?)del deletion Bardet-Biedl syndrome [RCV003122685] Chr11:66278131..66283424 [GRCh37]
Chr11:11q13.2		 pathogenic
NM_024649.5(BBS1):c.1632C>T (p.Leu544=) single nucleotide variant Bardet-Biedl syndrome [RCV003121732] Chr11:66531679 [GRCh38]
Chr11:66299150 [GRCh37]
Chr11:11q13.2		 likely benign
NM_024649.5(BBS1):c.1160C>G (p.Thr387Ser) single nucleotide variant Inborn genetic diseases [RCV003282890] Chr11:66526172 [GRCh38]
Chr11:66293643 [GRCh37]
Chr11:11q13.2		 uncertain significance
NC_000011.9:g.(66278711_66281876)_(66291354_66293593)del deletion Bardet-Biedl syndrome [RCV002271837] Chr11:66281876..66291354 [GRCh37]
Chr11:11q13.2		 pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_024649.5(BBS1):c.1694A>C (p.Lys565Thr) single nucleotide variant Bardet-Biedl syndrome [RCV002296432]|not provided [RCV003232603] Chr11:66531741 [GRCh38]
Chr11:66299212 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1532C>T (p.Thr511Ile) single nucleotide variant Bardet-Biedl syndrome [RCV002297171] Chr11:66530952 [GRCh38]
Chr11:66298423 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.159+23G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV004584261] Chr11:66511262 [GRCh38]
Chr11:66278733 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1339+163G>A single nucleotide variant Bardet-Biedl syndrome 1 [RCV002468551] Chr11:66526970 [GRCh38]
Chr11:66294441 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1009del (p.Glu337fs) deletion Bardet-Biedl syndrome 1 [RCV002309715] Chr11:66523780 [GRCh38]
Chr11:66291251 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.465G>A (p.Met155Ile) single nucleotide variant Bardet-Biedl syndrome [RCV002295906] Chr11:66515572 [GRCh38]
Chr11:66283043 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.734_735del (p.Pro245fs) deletion Bardet-Biedl syndrome 1 [RCV002310140] Chr11:66521279..66521280 [GRCh38]
Chr11:66288750..66288751 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.434dup (p.Asp145fs) duplication Bardet-Biedl syndrome 1 [RCV002307115] Chr11:66515540..66515541 [GRCh38]
Chr11:66283011..66283012 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1214_1215del (p.Thr405fs) deletion Bardet-Biedl syndrome 1 [RCV002309953] Chr11:66526681..66526682 [GRCh38]
Chr11:66294152..66294153 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1253del (p.Pro418fs) deletion Bardet-Biedl syndrome 1 [RCV002308326] Chr11:66526717 [GRCh38]
Chr11:66294188 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1498A>T (p.Lys500Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002308058] Chr11:66530918 [GRCh38]
Chr11:66298389 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.433G>T (p.Asp145Tyr) single nucleotide variant Bardet-Biedl syndrome [RCV002301968] Chr11:66515540 [GRCh38]
Chr11:66283011 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.966G>A (p.Trp322Ter) single nucleotide variant Bardet-Biedl syndrome 1 [RCV002306786] Chr11:66523738 [GRCh38]
Chr11:66291209 [GRCh37]
Chr11:11q13.2		 likely pathogenic
NM_024649.5(BBS1):c.1339+1G>A single nucleotide variant Bardet-Biedl syndrome [RCV002774857] Chr11:66526808 [GRCh38]
Chr11:66294279 [GRCh37]
Chr11:11q13.2		 likely pathogenic
GRCh37/hg19 11q13.2(chr11:66178392-66433436)x3 copy number gain not provided [RCV002511719] Chr11:66178392..66433436 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.1286G>A (p.Arg429Gln) single nucleotide variant Bardet-Biedl syndrome [RCV002995170] Chr11:66526754 [GRCh38]
Chr11:66294225 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.223C>A (p.Leu75Met) single nucleotide variant Bardet-Biedl syndrome [RCV002730344] Chr11:66514469 [GRCh38]
Chr11:66281940 [GRCh37]
Chr11:11q13.2		 uncertain significance
NM_024649.5(BBS1):c.228G>A (p.Val76=) single nucleotide variant Bardet-Biedl syndrome