BBS5 (Bardet-Biedl syndrome 5) - Rat Genome Database

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Gene: BBS5 (Bardet-Biedl syndrome 5) Homo sapiens
Analyze
Symbol: BBS5
Name: Bardet-Biedl syndrome 5
RGD ID: 1321789
HGNC Page HGNC:970
Description: Enables RNA polymerase II-specific DNA-binding transcription factor binding activity and phosphatidylinositol-3-phosphate binding activity. Involved in cilium assembly. Part of BBSome and ciliary membrane. Implicated in Bardet-Biedl syndrome and Bardet-Biedl syndrome 5.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Bardet-Biedl syndrome 5 protein
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
GRCh382169,479,494 - 169,506,655 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2169,479,480 - 169,506,655 (+)EnsemblGRCh38hg38GRCh38
GRCh372170,336,004 - 170,363,165 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362170,044,252 - 170,071,411 (+)NCBINCBI36Build 36hg18NCBI36
Build 342170,161,512 - 170,188,671NCBI
Celera2163,955,114 - 163,982,098 (+)NCBICelera
Cytogenetic Map2q31.1NCBI
HuRef2162,226,706 - 162,253,744 (+)NCBIHuRef
CHM1_12170,341,905 - 170,369,079 (+)NCBICHM1_1
T2T-CHM13v2.02169,956,107 - 169,983,895 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

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

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal electroretinogram  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormal oral cavity morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of the endocrine system  (IAGP)
Abnormality of the gastrointestinal tract  (IAGP)
Abnormality of the genitourinary system  (IAGP)
Abnormality of the sense of smell  (IAGP)
Aganglionic megacolon  (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)
Blindness  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Brachydactyly  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Celiac disease  (IAGP)
Childhood-onset truncal obesity  (IAGP)
Chronic kidney disease  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Cognitive impairment  (IAGP)
Color vision defect  (IAGP)
Cone dystrophy  (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)
Downslanted palpebral fissures  (IAGP)
Elevated circulating hepatic transaminase concentration  (IAGP)
Emotional lability  (IAGP)
External genital hypoplasia  (IAGP)
Fifth finger distal phalanx clinodactyly  (IAGP)
Finger syndactyly  (IAGP)
Generalized hirsutism  (IAGP)
Hearing impairment  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatic steatosis  (IAGP)
High palate  (IAGP)
Horseshoe kidney  (IAGP)
Hydrometrocolpos  (IAGP)
Hydronephrosis  (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)
Intellectual disability, mild  (IAGP)
Irregular menstruation  (IAGP)
Joint hypermobility  (IAGP)
Juvenile onset  (IAGP)
Long philtrum  (IAGP)
Macrotia  (IAGP)
Macular atrophy  (IAGP)
Macular dystrophy  (IAGP)
Medial flaring of the eyebrow  (IAGP)
Microdontia  (IAGP)
Micropenis  (IAGP)
Multiple renal cysts  (IAGP)
Nasal dysarthria  (IAGP)
Nephrotic syndrome  (IAGP)
Neurodevelopmental delay  (IAGP)
Neurogenic bladder  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Optic disc pallor  (IAGP)
Otitis media  (IAGP)
Photophobia  (IAGP)
Polycystic ovaries  (IAGP)
Postaxial polydactyly  (IAGP)
Posterior subcapsular cataract  (IAGP)
Posteriorly rotated ears  (IAGP)
Prominent nasal bridge  (IAGP)
Reduced visual acuity  (IAGP)
Retinal dystrophy  (IAGP)
Retrognathia  (IAGP)
Rhinitis  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Short attention span  (IAGP)
Short neck  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Spasticity  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Syndactyly  (IAGP)
Talipes equinovarus  (IAGP)
Type II diabetes mellitus  (IAGP)
Vesicoureteral reflux  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. Li JB, etal., Cell. 2004 May 14;117(4):541-52.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:8889549   PMID:9888993   PMID:10053027   PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:15489336   PMID:15815621  
PMID:16327777   PMID:16381901   PMID:17574030   PMID:18203199   PMID:18762586   PMID:19077438   PMID:19081074   PMID:20080638   PMID:20301537   PMID:20301743   PMID:20801516   PMID:21873635  
PMID:22302990   PMID:22500027   PMID:24550735   PMID:24939912   PMID:25416956   PMID:25552655   PMID:26186194   PMID:26867008   PMID:26871637   PMID:27173435   PMID:27485016   PMID:27520585  
PMID:28514442   PMID:29039417   PMID:29987050   PMID:30850397   PMID:32393512   PMID:32811249   PMID:33080218   PMID:33144677   PMID:33560420   PMID:33572860   PMID:33961781   PMID:36744302  
PMID:37019113  


Genomics

Comparative Map Data
BBS5
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382169,479,494 - 169,506,655 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2169,479,480 - 169,506,655 (+)EnsemblGRCh38hg38GRCh38
GRCh372170,336,004 - 170,363,165 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362170,044,252 - 170,071,411 (+)NCBINCBI36Build 36hg18NCBI36
Build 342170,161,512 - 170,188,671NCBI
Celera2163,955,114 - 163,982,098 (+)NCBICelera
Cytogenetic Map2q31.1NCBI
HuRef2162,226,706 - 162,253,744 (+)NCBIHuRef
CHM1_12170,341,905 - 170,369,079 (+)NCBICHM1_1
T2T-CHM13v2.02169,956,107 - 169,983,895 (+)NCBIT2T-CHM13v2.0
Bbs5
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39269,477,193 - 69,497,915 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl269,477,515 - 69,497,915 (+)EnsemblGRCm39 Ensembl
GRCm38269,646,848 - 69,667,571 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl269,647,171 - 69,667,571 (+)EnsemblGRCm38mm10GRCm38
MGSCv37269,485,312 - 69,505,626 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36269,448,094 - 69,468,408 (+)NCBIMGSCv36mm8
Celera271,316,653 - 71,336,896 (+)NCBICelera
Cytogenetic Map2C2NCBI
cM Map240.91NCBI
Bbs5
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8374,818,104 - 74,839,658 (+)NCBIGRCr8
mRatBN7.2354,410,429 - 54,431,831 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl354,410,775 - 54,431,829 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx357,810,788 - 57,831,808 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0366,394,388 - 66,415,406 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0364,156,746 - 64,177,766 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0355,886,695 - 55,907,717 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl355,886,695 - 55,907,716 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0362,498,107 - 62,519,538 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4351,792,152 - 51,813,556 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1351,688,442 - 51,709,926 (+)NCBI
Celera353,971,573 - 53,992,440 (+)NCBICelera
Cytogenetic Map3q21NCBI
Bbs5
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554495,041,748 - 5,061,806 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554495,043,034 - 5,061,806 (-)NCBIChiLan1.0ChiLan1.0
BBS5
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21372,139,738 - 72,164,993 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B72,154,679 - 72,179,966 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B56,751,129 - 56,776,637 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B174,220,825 - 174,245,820 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B174,220,825 - 174,245,820 (+)Ensemblpanpan1.1panPan2
BBS5
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13614,206,917 - 14,233,726 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3614,207,014 - 14,233,633 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3614,217,670 - 14,244,311 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03614,323,814 - 14,350,375 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3614,323,899 - 14,350,029 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13614,407,767 - 14,434,293 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03614,397,736 - 14,424,293 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03614,509,325 - 14,535,893 (+)NCBIUU_Cfam_GSD_1.0
Bbs5
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303131,471,344 - 131,491,210 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493650925,602 - 45,145 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493650925,263 - 45,113 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BBS5
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1575,852,198 - 75,874,951 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11575,850,860 - 75,874,950 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21584,972,475 - 84,994,083 (+)NCBISscrofa10.2Sscrofa10.2susScr3
BBS5
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11054,995,928 - 55,021,589 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1054,996,240 - 55,021,580 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666040144,508,020 - 144,533,200 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Bbs5
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247877,045,492 - 7,062,347 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247877,045,509 - 7,062,575 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in BBS5
317 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_152384.3(BBS5):c.753T>A (p.Asn251Lys) single nucleotide variant not provided [RCV000520689] Chr2:169499557 [GRCh38]
Chr2:170356067 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.522+3A>G single nucleotide variant Bardet-Biedl syndrome 5 [RCV000006532]|Bardet-Biedl syndrome [RCV002307356] Chr2:169493012 [GRCh38]
Chr2:170349522 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.425T>A (p.Leu142Ter) single nucleotide variant Bardet-Biedl syndrome 5 [RCV000006533] Chr2:169492912 [GRCh38]
Chr2:170349422 [GRCh37]
Chr2:2q31.1		 pathogenic
BBS5, 8-BP DEL/7-BP INS, NT263 indel Bardet-Biedl syndrome 5 [RCV000006534] Chr2:2q31 pathogenic
NM_152384.3(BBS5):c.177G>A (p.Trp59Ter) single nucleotide variant Bardet-Biedl syndrome 5 [RCV000006535]|Bardet-Biedl syndrome [RCV003633480] Chr2:169487103 [GRCh38]
Chr2:170343613 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.214G>A (p.Gly72Ser) single nucleotide variant Bardet-Biedl syndrome 5 [RCV000006536]|Bardet-Biedl syndrome [RCV000787535] Chr2:169487811 [GRCh38]
Chr2:170344321 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic
NM_152384.3(BBS5):c.547A>G (p.Thr183Ala) single nucleotide variant Bardet-Biedl syndrome 5 [RCV000006537] Chr2:169493765 [GRCh38]
Chr2:170350275 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.2(BBS5):c.900+303G>T single nucleotide variant Lung cancer [RCV000091659] Chr2:169503481 [GRCh38]
Chr2:170359991 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 copy number loss See cases [RCV000051201] Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1		 pathogenic
GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 copy number loss See cases [RCV000054122] Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1		 pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1 copy number loss See cases [RCV000054123] Chr2:164066038..172097886 [GRCh38]
Chr2:164922548..172962614 [GRCh37]
Chr2:164630794..172670860 [NCBI36]
Chr2:2q24.3-31.1		 pathogenic
GRCh38/hg38 2q24.3-31.1(chr2:165209651-169567892)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054124]|See cases [RCV000054124] Chr2:165209651..169567892 [GRCh38]
Chr2:166066161..170424402 [GRCh37]
Chr2:165774407..170132648 [NCBI36]
Chr2:2q24.3-31.1		 pathogenic
NM_152384.3(BBS5):c.413G>A (p.Arg138His) single nucleotide variant Bardet-Biedl syndrome [RCV000058870] Chr2:169492900 [GRCh38]
Chr2:170349410 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) single nucleotide variant Bardet-Biedl syndrome [RCV001081706]|not provided [RCV000766388]|not specified [RCV000249419] Chr2:169493802 [GRCh38]
Chr2:170350312 [GRCh37]
Chr2:2q31.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_152384.3(BBS5):c.620G>A (p.Arg207His) single nucleotide variant Bardet-Biedl syndrome [RCV000230046]|not provided [RCV001699119]|not specified [RCV000082651] Chr2:169497628 [GRCh38]
Chr2:170354138 [GRCh37]
Chr2:2q31.1		 benign|likely benign
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) single nucleotide variant Bardet-Biedl syndrome [RCV001257073]|Cone dystrophy [RCV000504860]|not provided [RCV000087001]|not specified [RCV000152843] Chr2:169493769 [GRCh38]
Chr2:170350279 [GRCh37]
Chr2:2q31.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_152384.3(BBS5):c.532G>A (p.Gly178Arg) single nucleotide variant Bardet-Biedl syndrome 5 [RCV003984827]|Bardet-Biedl syndrome [RCV000256439]|not provided [RCV000171498] Chr2:169493750 [GRCh38]
Chr2:170350260 [GRCh37]
Chr2:2q31.1		 likely pathogenic|no classifications from unflagged records
NM_152384.3(BBS5):c.952GAA[1] (p.Glu319del) microsatellite not provided [RCV000171499] Chr2:169504507..169504509 [GRCh38]
Chr2:170361017..170361019 [GRCh37]
Chr2:2q31.1		 likely pathogenic
Single allele single nucleotide variant not provided [RCV000171500] Chr2:170361030 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.826C>T (p.Leu276Phe) single nucleotide variant Bardet-Biedl syndrome [RCV001907900] Chr2:169503104 [GRCh38]
Chr2:170359614 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.313C>T (p.Arg105Cys) single nucleotide variant Bardet-Biedl syndrome [RCV001294426] Chr2:169488041 [GRCh38]
Chr2:170344551 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh38/hg38 2q31.1(chr2:169206895-170039471)x1 copy number loss See cases [RCV000137054] Chr2:169206895..170039471 [GRCh38]
Chr2:170063405..170895981 [GRCh37]
Chr2:169771651..170604227 [NCBI36]
Chr2:2q31.1		 uncertain significance
GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1 copy number loss See cases [RCV000139461] Chr2:168884350..169959279 [GRCh38]
Chr2:169740860..170815789 [GRCh37]
Chr2:169449106..170524035 [NCBI36]
Chr2:2q24.3-31.1		 uncertain significance
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 copy number gain See cases [RCV000142286] Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1		 pathogenic
GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1 copy number loss See cases [RCV000167568] Chr2:167996718..170671886 [GRCh37]
Chr2:2q24.3-31.1		 likely pathogenic
GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3 copy number gain See cases [RCV000239848] Chr2:156489430..182921298 [GRCh37]
Chr2:2q24.1-31.3		 pathogenic
NM_152384.3(BBS5):c.901-48G>C single nucleotide variant not provided [RCV001711745]|not specified [RCV000246427] Chr2:169504255 [GRCh38]
Chr2:170360765 [GRCh37]
Chr2:2q31.1		 benign|likely benign
NM_152384.3(BBS5):c.285C>T (p.Leu95=) single nucleotide variant Bardet-Biedl syndrome [RCV000638379]|not specified [RCV000248899] Chr2:169488013 [GRCh38]
Chr2:170344523 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.108C>T (p.Ser36=) single nucleotide variant Bardet-Biedl syndrome [RCV000468328]|not specified [RCV000244112] Chr2:169482299 [GRCh38]
Chr2:170338809 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.501T>A (p.Val167=) single nucleotide variant Bardet-Biedl syndrome [RCV000638387]|not specified [RCV000244266] Chr2:169492988 [GRCh38]
Chr2:170349498 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.39C>G (p.Val13=) single nucleotide variant Bardet-Biedl syndrome [RCV000467258]|not specified [RCV000254056] Chr2:169479592 [GRCh38]
Chr2:170336102 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.-40G>C single nucleotide variant Bardet-Biedl syndrome 5 [RCV001553961]|not provided [RCV001636831]|not specified [RCV000251912] Chr2:169479514 [GRCh38]
Chr2:170336024 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.750C>T (p.Ile250=) single nucleotide variant Bardet-Biedl syndrome [RCV000860685]|not specified [RCV000316182] Chr2:169499554 [GRCh38]
Chr2:170356064 [GRCh37]
Chr2:2q31.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_152384.3(BBS5):c.149T>C (p.Leu50Pro) single nucleotide variant not provided [RCV001760804] Chr2:169487075 [GRCh38]
Chr2:170343585 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.25G>A (p.Glu9Lys) single nucleotide variant Bardet-Biedl syndrome [RCV003222342]|not provided [RCV001760806] Chr2:169479578 [GRCh38]
Chr2:170336088 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.959del (p.Leu320fs) deletion not provided [RCV000722201] Chr2:169504515 [GRCh38]
Chr2:170361025 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.1A>G (p.Met1Val) single nucleotide variant Bardet-Biedl syndrome 5 [RCV002227838] Chr2:169479554 [GRCh38]
Chr2:170336064 [GRCh37]
Chr2:2q31.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_152384.3(BBS5):c.412C>T (p.Arg138Cys) single nucleotide variant BBS5-related disorder [RCV003403181]|Cone dystrophy [RCV000504629] Chr2:169492899 [GRCh38]
Chr2:170349409 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.900G>C (p.Val300=) single nucleotide variant Bardet-Biedl syndrome 5 [RCV002490845]|Bardet-Biedl syndrome [RCV001857205]|Cone dystrophy [RCV000505083]|not specified [RCV001844180] Chr2:169503178 [GRCh38]
Chr2:170359688 [GRCh37]
Chr2:2q31.1		 likely pathogenic|likely benign|uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_152384.3(BBS5):c.751A>G (p.Asn251Asp) single nucleotide variant BBS5-related disorder [RCV003972762]|Bardet-Biedl syndrome 5 [RCV000765535]|Bardet-Biedl syndrome [RCV000463506]|not provided [RCV001090461]|not specified [RCV001821295] Chr2:169499555 [GRCh38]
Chr2:170356065 [GRCh37]
Chr2:2q31.1		 likely benign|uncertain significance
NM_152384.3(BBS5):c.468A>G (p.Pro156=) single nucleotide variant BBS5-related disorder [RCV003932772]|Bardet-Biedl syndrome 5 [RCV002496849]|Bardet-Biedl syndrome [RCV000461699] Chr2:169492955 [GRCh38]
Chr2:170349465 [GRCh37]
Chr2:2q31.1		 benign|likely benign
NM_152384.3(BBS5):c.203A>G (p.Asn68Ser) single nucleotide variant BBS5-related disorder [RCV003960040]|Bardet-Biedl syndrome 5 [RCV002475893]|Bardet-Biedl syndrome [RCV000477454] Chr2:169487129 [GRCh38]
Chr2:170343639 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh38/hg38 2q31.1(chr2:169498679-169508441) copy number loss Bardet-Biedl syndrome [RCV000498998] Chr2:169498679..169508441 [GRCh38]
Chr2:170355189..170364951 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.966dup (p.Ala323fs) duplication Bardet-Biedl syndrome 5 [RCV000502319] Chr2:169504520..169504521 [GRCh38]
Chr2:170361030..170361031 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_152384.3(BBS5):c.265C>T (p.Arg89Ter) single nucleotide variant Bardet-Biedl syndrome 5 [RCV001250528]|Bardet-Biedl syndrome [RCV000638356]|not provided [RCV001548296] Chr2:169487993 [GRCh38]
Chr2:170344503 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.462G>C (p.Leu154=) single nucleotide variant BBS5-related disorder [RCV003892446]|Bardet-Biedl syndrome [RCV000638375] Chr2:169492949 [GRCh38]
Chr2:170349459 [GRCh37]
Chr2:2q31.1		 likely benign
GRCh37/hg19 2q31.1(chr2:169727951-170825165)x1 copy number loss See cases [RCV000512416] Chr2:169727951..170825165 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.209-2A>G single nucleotide variant Bardet-Biedl syndrome 5 [RCV000678526]|Bardet-Biedl syndrome [RCV003633534]|not provided [RCV001529637] Chr2:169487804 [GRCh38]
Chr2:170344314 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic
NM_152384.3(BBS5):c.258+2T>C single nucleotide variant Bardet-Biedl syndrome 5 [RCV000678527] Chr2:169487857 [GRCh38]
Chr2:170344367 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.542T>C (p.Phe181Ser) single nucleotide variant BBS5-related disorder [RCV003403628]|Bardet-Biedl syndrome [RCV000701933] Chr2:169493760 [GRCh38]
Chr2:170350270 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.143-1G>C single nucleotide variant BBS5-related disorder [RCV003392526]|Bardet-Biedl syndrome 5 [RCV000763466]|Bardet-Biedl syndrome [RCV000690428]|not provided [RCV002281124] Chr2:169487068 [GRCh38]
Chr2:170343578 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic
NM_152384.3(BBS5):c.817-1G>A single nucleotide variant Bardet-Biedl syndrome [RCV000707557] Chr2:169503094 [GRCh38]
Chr2:170359604 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.123del (p.Gly42fs) deletion Bardet-Biedl syndrome [RCV000735933] Chr2:169482312 [GRCh38]
Chr2:170338822 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.184_185del (p.Leu62fs) deletion not provided [RCV000723194] Chr2:169487109..169487110 [GRCh38]
Chr2:170343619..170343620 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_152384.3(BBS5):c.166A>G (p.Arg56Gly) single nucleotide variant Bardet-Biedl syndrome [RCV000735934]|not provided [RCV003165941] Chr2:169487092 [GRCh38]
Chr2:170343602 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic
GRCh37/hg19 2q23.3-31.2(chr2:152409978-179325736)x3 copy number gain not provided [RCV000740654] Chr2:152409978..179325736 [GRCh37]
Chr2:2q23.3-31.2		 pathogenic
GRCh37/hg19 2q31.1(chr2:170343083-170680879)x3 copy number gain not provided [RCV000740694] Chr2:170343083..170680879 [GRCh37]
Chr2:2q31.1		 benign
GRCh37/hg19 2q31.1(chr2:170344060-170469839)x3 copy number gain not provided [RCV000740695] Chr2:170344060..170469839 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.1001A>G (p.Gln334Arg) single nucleotide variant Bardet-Biedl syndrome [RCV001889184] Chr2:169504557 [GRCh38]
Chr2:170361067 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.60-3T>C single nucleotide variant BBS5-related disorder [RCV003938212]|Bardet-Biedl syndrome 5 [RCV002495219]|Bardet-Biedl syndrome [RCV000861719]|not provided [RCV001701451] Chr2:169482248 [GRCh38]
Chr2:170338758 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.817-5T>G single nucleotide variant Bardet-Biedl syndrome [RCV000867886] Chr2:169503090 [GRCh38]
Chr2:170359600 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.190T>C (p.Leu64=) single nucleotide variant BBS5-related disorder [RCV003908212]|Bardet-Biedl syndrome 5 [RCV002507486]|Bardet-Biedl syndrome [RCV000865395]|not specified [RCV001816971] Chr2:169487116 [GRCh38]
Chr2:170343626 [GRCh37]
Chr2:2q31.1		 benign|likely benign
NM_152384.3(BBS5):c.143-1G>A single nucleotide variant Bardet-Biedl syndrome [RCV001059630] Chr2:169487068 [GRCh38]
Chr2:170343578 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.386+1G>T single nucleotide variant Bardet-Biedl syndrome 5 [RCV000785901] Chr2:169488115 [GRCh38]
Chr2:170344625 [GRCh37]
Chr2:2q31.1		 likely pathogenic
GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 copy number loss not provided [RCV000848216] Chr2:167329586..192756373 [GRCh37]
Chr2:2q24.3-32.3		 pathogenic
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NM_152384.3(BBS5):c.516T>C (p.Ser172=) single nucleotide variant BBS5-related disorder [RCV003908261]|Bardet-Biedl syndrome 5 [RCV002501299]|Bardet-Biedl syndrome [RCV000869865]|not specified [RCV001816987] Chr2:169493003 [GRCh38]
Chr2:170349513 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.935G>A (p.Arg312His) single nucleotide variant Bardet-Biedl syndrome [RCV001202262] Chr2:169504491 [GRCh38]
Chr2:170361001 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.689G>A (p.Gly230Glu) single nucleotide variant Bardet-Biedl syndrome [RCV001247388] Chr2:169499493 [GRCh38]
Chr2:170356003 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.844G>A (p.Glu282Lys) single nucleotide variant Bardet-Biedl syndrome 5 [RCV002480778]|Bardet-Biedl syndrome [RCV001238317] Chr2:169503122 [GRCh38]
Chr2:170359632 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.208+5G>T single nucleotide variant Bardet-Biedl syndrome [RCV001221653] Chr2:169487139 [GRCh38]
Chr2:170343649 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.365C>T (p.Thr122Ile) single nucleotide variant Bardet-Biedl syndrome [RCV001238625] Chr2:169488093 [GRCh38]
Chr2:170344603 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.808G>A (p.Glu270Lys) single nucleotide variant Bardet-Biedl syndrome [RCV001201486] Chr2:169499612 [GRCh38]
Chr2:170356122 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.618+139T>C single nucleotide variant not provided [RCV001616577] Chr2:169493975 [GRCh38]
Chr2:170350485 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) single nucleotide variant Bardet-Biedl syndrome 5 [RCV001780411]|Bardet-Biedl syndrome [RCV001866093]|not provided [RCV001580050] Chr2:169492912 [GRCh38]
Chr2:170349422 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.682-84C>A single nucleotide variant not provided [RCV001710319] Chr2:169499402 [GRCh38]
Chr2:170355912 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.142+160C>A single nucleotide variant not provided [RCV001643274] Chr2:169482493 [GRCh38]
Chr2:170339003 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.18G>C (p.Ala6=) single nucleotide variant Bardet-Biedl syndrome [RCV000951759] Chr2:169479571 [GRCh38]
Chr2:170336081 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.143-10G>T single nucleotide variant not provided [RCV000952498] Chr2:169487059 [GRCh38]
Chr2:170343569 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.143-7C>T single nucleotide variant Bardet-Biedl syndrome [RCV003633550] Chr2:169487062 [GRCh38]
Chr2:170343572 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.2(BBS5):c.925_931del deletion Bardet-Biedl syndrome [RCV001049431] Chr2:169504478..169504484 [GRCh38]
Chr2:170360988..170360994 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic
NM_152384.3(BBS5):c.817-10T>A single nucleotide variant Bardet-Biedl syndrome [RCV001221327] Chr2:169503085 [GRCh38]
Chr2:170359595 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.523-184G>A single nucleotide variant not provided [RCV001693488] Chr2:169493557 [GRCh38]
Chr2:170350067 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.593A>G (p.Asn198Ser) single nucleotide variant Bardet-Biedl syndrome 5 [RCV002468116]|Bardet-Biedl syndrome [RCV001044081]|Inborn genetic diseases [RCV002552544] Chr2:169493811 [GRCh38]
Chr2:170350321 [GRCh37]
Chr2:2q31.1		 likely benign|uncertain significance
GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 copy number loss 2q24 microdeletion syndrome [RCV001263223] Chr2:163078055..182119617 [GRCh37]
Chr2:2q24.2-31.3		 pathogenic
NM_152384.3(BBS5):c.60-176dup duplication not provided [RCV001620962] Chr2:169482074..169482075 [GRCh38]
Chr2:170338584..170338585 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.*323A>G single nucleotide variant not provided [RCV001655418] Chr2:169504905 [GRCh38]
Chr2:170361415 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.900+255G>A single nucleotide variant not provided [RCV001688963] Chr2:169503433 [GRCh38]
Chr2:170359943 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.208+286G>T single nucleotide variant not provided [RCV001713990] Chr2:169487420 [GRCh38]
Chr2:170343930 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.900+70G>C single nucleotide variant not provided [RCV001675517] Chr2:169503248 [GRCh38]
Chr2:170359758 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.59+164G>A single nucleotide variant not provided [RCV001686474] Chr2:169479776 [GRCh38]
Chr2:170336286 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.682-52A>T single nucleotide variant not provided [RCV001598206] Chr2:169499434 [GRCh38]
Chr2:170355944 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.209-201G>T single nucleotide variant not provided [RCV001684259] Chr2:169487605 [GRCh38]
Chr2:170344115 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.387-79A>G single nucleotide variant not provided [RCV001673816] Chr2:169492795 [GRCh38]
Chr2:170349305 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.619-1G>C single nucleotide variant Bardet-Biedl syndrome 1 [RCV003229005]|Bardet-Biedl syndrome 5 [RCV001195902]|Bardet-Biedl syndrome [RCV001002882]|Retinal dystrophy [RCV001073435]|not provided [RCV001090460] Chr2:169497626 [GRCh38]
Chr2:170354136 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_152384.3(BBS5):c.32G>A (p.Arg11Gln) single nucleotide variant BBS5-related disorder [RCV003425896]|Bardet-Biedl syndrome 5 [RCV002481953]|Bardet-Biedl syndrome [RCV001049639]|Inborn genetic diseases [RCV002553720]|not provided [RCV001759778]|not specified [RCV001819765] Chr2:169479585 [GRCh38]
Chr2:170336095 [GRCh37]
Chr2:2q31.1		 uncertain significance
NC_000002.12:g.(?_169492874)_(169493836_?)del deletion Bardet-Biedl syndrome [RCV001032683] Chr2:170349384..170350346 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.*334T>C single nucleotide variant not provided [RCV001645658] Chr2:169504916 [GRCh38]
Chr2:170361426 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.2T>A (p.Met1Lys) single nucleotide variant Bardet-Biedl syndrome 5 [RCV001002712] Chr2:169479555 [GRCh38]
Chr2:170336065 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.*242A>G single nucleotide variant not provided [RCV001612446] Chr2:169504824 [GRCh38]
Chr2:170361334 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.387-263G>T single nucleotide variant not provided [RCV001669581] Chr2:169492611 [GRCh38]
Chr2:170349121 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.142+143C>A single nucleotide variant not provided [RCV001645472] Chr2:169482476 [GRCh38]
Chr2:170338986 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.303dup (p.Asn102Ter) duplication Bardet-Biedl syndrome 5 [RCV002491729]|Bardet-Biedl syndrome [RCV001229656] Chr2:169488030..169488031 [GRCh38]
Chr2:170344540..170344541 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic
NM_152384.3(BBS5):c.814A>G (p.Lys272Glu) single nucleotide variant Bardet-Biedl syndrome [RCV001205222] Chr2:169499618 [GRCh38]
Chr2:170356128 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.567G>A (p.Trp189Ter) single nucleotide variant Bardet-Biedl syndrome [RCV001059256] Chr2:169493785 [GRCh38]
Chr2:170350295 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.25G>C (p.Glu9Gln) single nucleotide variant Bardet-Biedl syndrome [RCV001231117] Chr2:169479578 [GRCh38]
Chr2:170336088 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.92T>C (p.Ile31Thr) single nucleotide variant BBS5-related disorder [RCV003425906]|Bardet-Biedl syndrome 5 [RCV002479378]|Bardet-Biedl syndrome [RCV001064559] Chr2:169482283 [GRCh38]
Chr2:170338793 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.475C>T (p.His159Tyr) single nucleotide variant Bardet-Biedl syndrome 5 [RCV002480704]|Bardet-Biedl syndrome [RCV001214674] Chr2:169492962 [GRCh38]
Chr2:170349472 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.571_572delinsTA (p.Ala191Ter) indel Bardet-Biedl syndrome [RCV001908223] Chr2:169493789..169493790 [GRCh38]
Chr2:170350299..170350300 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.110T>C (p.Ile37Thr) single nucleotide variant BBS5-related disorder [RCV003938610]|Bardet-Biedl syndrome 5 [RCV002486176]|Bardet-Biedl syndrome [RCV001304009] Chr2:169482301 [GRCh38]
Chr2:170338811 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.898del (p.Val300fs) deletion Bardet-Biedl syndrome 5 [RCV001808003] Chr2:169503176 [GRCh38]
Chr2:170359686 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.791G>T (p.Gly264Val) single nucleotide variant Bardet-Biedl syndrome 5 [RCV001808024] Chr2:169499595 [GRCh38]
Chr2:170356105 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.885C>T (p.His295=) single nucleotide variant Bardet-Biedl syndrome [RCV001432976] Chr2:169503163 [GRCh38]
Chr2:170359673 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.674C>G (p.Ser225Cys) single nucleotide variant Bardet-Biedl syndrome [RCV001361341] Chr2:169497682 [GRCh38]
Chr2:170354192 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.709del (p.Lys236_Ile237insTer) deletion Bardet-Biedl syndrome 5 [RCV001335471]|Bardet-Biedl syndrome [RCV002546737] Chr2:169499510 [GRCh38]
Chr2:170356020 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.332C>T (p.Thr111Ile) single nucleotide variant Bardet-Biedl syndrome 5 [RCV002476456]|Bardet-Biedl syndrome [RCV001314258]|Inborn genetic diseases [RCV002545068] Chr2:169488060 [GRCh38]
Chr2:170344570 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.748A>C (p.Ile250Leu) single nucleotide variant Bardet-Biedl syndrome [RCV001369237] Chr2:169499552 [GRCh38]
Chr2:170356062 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.764A>G (p.Lys255Arg) single nucleotide variant Bardet-Biedl syndrome [RCV001367849] Chr2:169499568 [GRCh38]
Chr2:170356078 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.536C>T (p.Thr179Ile) single nucleotide variant BBS5-related disorder [RCV003394009]|Bardet-Biedl syndrome [RCV001368768] Chr2:169493754 [GRCh38]
Chr2:170350264 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.888G>A (p.Thr296=) single nucleotide variant BBS5-related disorder [RCV003898334]|Bardet-Biedl syndrome [RCV001349651] Chr2:169503166 [GRCh38]
Chr2:170359676 [GRCh37]
Chr2:2q31.1		 likely benign|uncertain significance
NM_152384.3(BBS5):c.752A>G (p.Asn251Ser) single nucleotide variant Bardet-Biedl syndrome [RCV001322832] Chr2:169499556 [GRCh38]
Chr2:170356066 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.259-3C>G single nucleotide variant Bardet-Biedl syndrome 5 [RCV002476663]|Bardet-Biedl syndrome [RCV001364897] Chr2:169487984 [GRCh38]
Chr2:170344494 [GRCh37]
Chr2:2q31.1		 likely pathogenic|uncertain significance
NM_152384.3(BBS5):c.347G>A (p.Gly116Glu) single nucleotide variant Bardet-Biedl syndrome [RCV001321726] Chr2:169488075 [GRCh38]
Chr2:170344585 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.133G>A (p.Gly45Arg) single nucleotide variant Bardet-Biedl syndrome [RCV001323043] Chr2:169482324 [GRCh38]
Chr2:170338834 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.60-10T>G single nucleotide variant Bardet-Biedl syndrome 5 [RCV002476469]|Bardet-Biedl syndrome [RCV001315918] Chr2:169482241 [GRCh38]
Chr2:170338751 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.106T>A (p.Ser36Thr) single nucleotide variant Bardet-Biedl syndrome [RCV001323259] Chr2:169482297 [GRCh38]
Chr2:170338807 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.913G>T (p.Asp305Tyr) single nucleotide variant Bardet-Biedl syndrome [RCV001322241] Chr2:169504315 [GRCh38]
Chr2:170360825 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.211G>A (p.Val71Ile) single nucleotide variant Bardet-Biedl syndrome 5 [RCV002499694]|Bardet-Biedl syndrome [RCV001346252]|Inborn genetic diseases [RCV003169683] Chr2:169487808 [GRCh38]
Chr2:170344318 [GRCh37]
Chr2:2q31.1		 likely benign|uncertain significance
NM_152384.3(BBS5):c.308G>A (p.Ser103Asn) single nucleotide variant Bardet-Biedl syndrome 5 [RCV002499616]|Bardet-Biedl syndrome [RCV001317412]|Inborn genetic diseases [RCV003166827] Chr2:169488036 [GRCh38]
Chr2:170344546 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.472G>A (p.Glu158Lys) single nucleotide variant Bardet-Biedl syndrome 5 [RCV001335470]|Bardet-Biedl syndrome [RCV003523093] Chr2:169492959 [GRCh38]
Chr2:170349469 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.861T>C (p.Asp287=) single nucleotide variant Bardet-Biedl syndrome [RCV001499882] Chr2:169503139 [GRCh38]
Chr2:170359649 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.142+9A>G single nucleotide variant Bardet-Biedl syndrome [RCV001470871] Chr2:169482342 [GRCh38]
Chr2:170338852 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.693T>C (p.Tyr231=) single nucleotide variant BBS5-related disorder [RCV003900517]|Bardet-Biedl syndrome [RCV001441676] Chr2:169499497 [GRCh38]
Chr2:170356007 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.387-15_387-12del microsatellite Bardet-Biedl syndrome [RCV001471849]|not provided [RCV001796508]|not specified [RCV001796509] Chr2:169492853..169492856 [GRCh38]
Chr2:170349363..170349366 [GRCh37]
Chr2:2q31.1		 benign|likely benign
NM_152384.3(BBS5):c.276T>C (p.Thr92=) single nucleotide variant BBS5-related disorder [RCV003900519]|Bardet-Biedl syndrome [RCV001442338] Chr2:169488004 [GRCh38]
Chr2:170344514 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.682-5T>C single nucleotide variant Bardet-Biedl syndrome [RCV001402203] Chr2:169499481 [GRCh38]
Chr2:170355991 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.979T>C (p.Leu327=) single nucleotide variant BBS5-related disorder [RCV003900407]|Bardet-Biedl syndrome [RCV001410293] Chr2:169504535 [GRCh38]
Chr2:170361045 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.142+1G>T single nucleotide variant Bardet-Biedl syndrome [RCV001378765] Chr2:169482334 [GRCh38]
Chr2:170338844 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.57G>T (p.Ala19=) single nucleotide variant Bardet-Biedl syndrome [RCV001448210] Chr2:169479610 [GRCh38]
Chr2:170336120 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.792A>T (p.Gly264=) single nucleotide variant Bardet-Biedl syndrome [RCV001450572] Chr2:169499596 [GRCh38]
Chr2:170356106 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.209-256G>A single nucleotide variant not provided [RCV001673790] Chr2:169487550 [GRCh38]
Chr2:170344060 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.1023T>C (p.Ser341=) single nucleotide variant Bardet-Biedl syndrome [RCV001459046] Chr2:169504579 [GRCh38]
Chr2:170361089 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.619-16_619-15del deletion Bardet-Biedl syndrome 5 [RCV002476818]|Bardet-Biedl syndrome [RCV001516011] Chr2:169497608..169497609 [GRCh38]
Chr2:170354118..170354119 [GRCh37]
Chr2:2q31.1		 benign|likely benign
NM_152384.3(BBS5):c.786A>C (p.Ile262=) single nucleotide variant Bardet-Biedl syndrome [RCV001469684] Chr2:169499590 [GRCh38]
Chr2:170356100 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.901-236C>A single nucleotide variant not provided [RCV001685258] Chr2:169504067 [GRCh38]
Chr2:170360577 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.633T>C (p.Ile211=) single nucleotide variant Bardet-Biedl syndrome [RCV001460148] Chr2:169497641 [GRCh38]
Chr2:170354151 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.619-9T>C single nucleotide variant BBS5-related disorder [RCV003946192]|Bardet-Biedl syndrome [RCV001457202] Chr2:169497618 [GRCh38]
Chr2:170354128 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.24G>A (p.Trp8Ter) single nucleotide variant Bardet-Biedl syndrome [RCV001383653] Chr2:169479577 [GRCh38]
Chr2:170336087 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.675T>G (p.Ser225=) single nucleotide variant Bardet-Biedl syndrome [RCV001495073] Chr2:169497683 [GRCh38]
Chr2:170354193 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.559_560insGA (p.Ile187fs) insertion Bardet-Biedl syndrome 5 [RCV001526710] Chr2:169493776..169493777 [GRCh38]
Chr2:170350286..170350287 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.209-1G>A single nucleotide variant Bardet-Biedl syndrome 5 [RCV002249291] Chr2:169487805 [GRCh38]
Chr2:170344315 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3:c.(?_-60)_(386+1_387-1)del deletion Bardet-Biedl syndrome 5 [RCV002227836]   pathogenic
NM_152384.3(BBS5):c.-2C>A single nucleotide variant BBS5-related disorder [RCV003911038]|not specified [RCV001822825] Chr2:169479552 [GRCh38]
Chr2:170336062 [GRCh37]
Chr2:2q31.1		 likely benign|uncertain significance
NM_152384.3(BBS5):c.266G>A (p.Arg89Gln) single nucleotide variant Bardet-Biedl syndrome [RCV001895978] Chr2:169487994 [GRCh38]
Chr2:170344504 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.325A>G (p.Ile109Val) single nucleotide variant Bardet-Biedl syndrome 5 [RCV002490278]|Bardet-Biedl syndrome [RCV001928381] Chr2:169488053 [GRCh38]
Chr2:170344563 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_152384.3(BBS5):c.449A>G (p.Lys150Arg) single nucleotide variant Bardet-Biedl syndrome [RCV001970999] Chr2:169492936 [GRCh38]
Chr2:170349446 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.655del (p.Ala219fs) deletion Bardet-Biedl syndrome [RCV001893329] Chr2:169497663 [GRCh38]
Chr2:170354173 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.902C>T (p.Ala301Val) single nucleotide variant Bardet-Biedl syndrome [RCV002005410] Chr2:169504304 [GRCh38]
Chr2:170360814 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.649G>A (p.Gly217Ser) single nucleotide variant Bardet-Biedl syndrome [RCV001926725] Chr2:169497657 [GRCh38]
Chr2:170354167 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.287A>G (p.Tyr96Cys) single nucleotide variant Bardet-Biedl syndrome [RCV002041795] Chr2:169488015 [GRCh38]
Chr2:170344525 [GRCh37]
Chr2:2q31.1		 uncertain significance
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
NM_152384.3(BBS5):c.824C>T (p.Pro275Leu) single nucleotide variant Bardet-Biedl syndrome 5 [RCV002503434]|Bardet-Biedl syndrome [RCV001894775] Chr2:169503102 [GRCh38]
Chr2:170359612 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.977_978del (p.Lys326fs) deletion Bardet-Biedl syndrome [RCV001966872] Chr2:169504532..169504533 [GRCh38]
Chr2:170361042..170361043 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.839C>A (p.Thr280Lys) single nucleotide variant Bardet-Biedl syndrome [RCV001965528] Chr2:169503117 [GRCh38]
Chr2:170359627 [GRCh37]
Chr2:2q31.1		 uncertain significance
NC_000002.11:g.(?_170336064)_(170361092_?)dup duplication Bardet-Biedl syndrome [RCV004582493] Chr2:170336064..170361092 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.143-3del deletion Bardet-Biedl syndrome [RCV001944049] Chr2:169487063 [GRCh38]
Chr2:170343573 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.875C>G (p.Ser292Cys) single nucleotide variant Bardet-Biedl syndrome [RCV001944464] Chr2:169503153 [GRCh38]
Chr2:170359663 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.364A>G (p.Thr122Ala) single nucleotide variant Bardet-Biedl syndrome [RCV001937930] Chr2:169488092 [GRCh38]
Chr2:170344602 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.520C>T (p.Gln174Ter) single nucleotide variant Bardet-Biedl syndrome [RCV001941617] Chr2:169493007 [GRCh38]
Chr2:170349517 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.770A>G (p.Tyr257Cys) single nucleotide variant BBS5-related disorder [RCV003923415]|Bardet-Biedl syndrome 5 [RCV003448448]|Bardet-Biedl syndrome [RCV002036355] Chr2:169499574 [GRCh38]
Chr2:170356084 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.568C>T (p.His190Tyr) single nucleotide variant Bardet-Biedl syndrome [RCV002017401] Chr2:169493786 [GRCh38]
Chr2:170350296 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.59+5G>A single nucleotide variant Bardet-Biedl syndrome 5 [RCV002497950]|Bardet-Biedl syndrome [RCV001995535] Chr2:169479617 [GRCh38]
Chr2:170336127 [GRCh37]
Chr2:2q31.1		 uncertain significance
NC_000002.11:g.(?_170218811)_(170382206_?)del deletion not provided [RCV001956366] Chr2:170218811..170382206 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.816+12A>G single nucleotide variant Bardet-Biedl syndrome [RCV001951805] Chr2:169499632 [GRCh38]
Chr2:170356142 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.142+3G>T single nucleotide variant Bardet-Biedl syndrome [RCV001976845] Chr2:169482336 [GRCh38]
Chr2:170338846 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.618+20T>A single nucleotide variant Bardet-Biedl syndrome [RCV001975888] Chr2:169493856 [GRCh38]
Chr2:170350366 [GRCh37]
Chr2:2q31.1		 likely benign|uncertain significance
NM_152384.3(BBS5):c.598A>G (p.Ser200Gly) single nucleotide variant Bardet-Biedl syndrome [RCV001899780] Chr2:169493816 [GRCh38]
Chr2:170350326 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.788T>C (p.Phe263Ser) single nucleotide variant Bardet-Biedl syndrome [RCV001900981] Chr2:169499592 [GRCh38]
Chr2:170356102 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.229T>A (p.Leu77Met) single nucleotide variant BBS5-related disorder [RCV003418228]|Bardet-Biedl syndrome [RCV001978867]|not provided [RCV004694025] Chr2:169487826 [GRCh38]
Chr2:170344336 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.406del (p.Met136fs) deletion Bardet-Biedl syndrome [RCV001925601] Chr2:169492890 [GRCh38]
Chr2:170349400 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.664A>G (p.Ile222Val) single nucleotide variant Bardet-Biedl syndrome [RCV001992379] Chr2:169497672 [GRCh38]
Chr2:170354182 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.226A>G (p.Ile76Val) single nucleotide variant Bardet-Biedl syndrome 1 [RCV003229079]|Bardet-Biedl syndrome [RCV001998311] Chr2:169487823 [GRCh38]
Chr2:170344333 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.347G>C (p.Gly116Ala) single nucleotide variant Bardet-Biedl syndrome [RCV001932696] Chr2:169488075 [GRCh38]
Chr2:170344585 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.17C>T (p.Ala6Val) single nucleotide variant Bardet-Biedl syndrome [RCV002026070] Chr2:169479570 [GRCh38]
Chr2:170336080 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.185T>C (p.Leu62Ser) single nucleotide variant Bardet-Biedl syndrome [RCV001884679] Chr2:169487111 [GRCh38]
Chr2:170343621 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.197G>A (p.Arg66Lys) single nucleotide variant Bardet-Biedl syndrome [RCV001897184] Chr2:169487123 [GRCh38]
Chr2:170343633 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.925-3A>G single nucleotide variant Bardet-Biedl syndrome [RCV001997934] Chr2:169504478 [GRCh38]
Chr2:170360988 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.776C>T (p.Ala259Val) single nucleotide variant Bardet-Biedl syndrome [RCV001930514] Chr2:169499580 [GRCh38]
Chr2:170356090 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.522+4T>C single nucleotide variant Bardet-Biedl syndrome [RCV002030332] Chr2:169493013 [GRCh38]
Chr2:170349523 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.790G>A (p.Gly264Arg) single nucleotide variant Bardet-Biedl syndrome [RCV001901352] Chr2:169499594 [GRCh38]
Chr2:170356104 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.887C>T (p.Thr296Met) single nucleotide variant Bardet-Biedl syndrome [RCV002032323] Chr2:169503165 [GRCh38]
Chr2:170359675 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.817-1G>T single nucleotide variant Bardet-Biedl syndrome [RCV002016979] Chr2:169503094 [GRCh38]
Chr2:170359604 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.829G>A (p.Glu277Lys) single nucleotide variant BBS5-related disorder [RCV003418342]|Bardet-Biedl syndrome [RCV002026855] Chr2:169503107 [GRCh38]
Chr2:170359617 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.668A>T (p.Glu223Val) single nucleotide variant Bardet-Biedl syndrome 5 [RCV002479456]|Bardet-Biedl syndrome [RCV001924423]|Inborn genetic diseases [RCV003167274] Chr2:169497676 [GRCh38]
Chr2:170354186 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.925C>T (p.Gln309Ter) single nucleotide variant Bardet-Biedl syndrome [RCV002049554] Chr2:169504481 [GRCh38]
Chr2:170360991 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.569A>C (p.His190Pro) single nucleotide variant Bardet-Biedl syndrome 5 [RCV002479708]|Bardet-Biedl syndrome [RCV001999125] Chr2:169493787 [GRCh38]
Chr2:170350297 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.523-20C>G single nucleotide variant Bardet-Biedl syndrome [RCV002033702] Chr2:169493721 [GRCh38]
Chr2:170350231 [GRCh37]
Chr2:2q31.1		 uncertain significance
NC_000002.11:g.(?_170359585)_(170361092_?)del deletion Bardet-Biedl syndrome [RCV001975260] Chr2:170359585..170361092 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.259-3C>T single nucleotide variant BBS5-related disorder [RCV003956431]|Bardet-Biedl syndrome 5 [RCV002482644]|Bardet-Biedl syndrome [RCV001897557] Chr2:169487984 [GRCh38]
Chr2:170344494 [GRCh37]
Chr2:2q31.1		 likely benign|uncertain significance
NC_000002.11:g.(?_170336064)_(170336142_?)del deletion Bardet-Biedl syndrome [RCV001972559] Chr2:170336064..170336142 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.618+14_618+18del deletion Bardet-Biedl syndrome [RCV002210358] Chr2:169493850..169493854 [GRCh38]
Chr2:170350360..170350364 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.681+9T>C single nucleotide variant Bardet-Biedl syndrome [RCV002105097] Chr2:169497698 [GRCh38]
Chr2:170354208 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.873C>T (p.Asp291=) single nucleotide variant Bardet-Biedl syndrome [RCV002107146] Chr2:169503151 [GRCh38]
Chr2:170359661 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.208+15T>C single nucleotide variant Bardet-Biedl syndrome [RCV002170122] Chr2:169487149 [GRCh38]
Chr2:170343659 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.619-19_619-14del microsatellite BBS5-related disorder [RCV003893301]|Bardet-Biedl syndrome [RCV002107491] Chr2:169497602..169497607 [GRCh38]
Chr2:170354112..170354117 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.600T>C (p.Ser200=) single nucleotide variant Bardet-Biedl syndrome [RCV002107671] Chr2:169493818 [GRCh38]
Chr2:170350328 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.386+16A>G single nucleotide variant Bardet-Biedl syndrome [RCV002085238] Chr2:169488130 [GRCh38]
Chr2:170344640 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.174C>G (p.Leu58=) single nucleotide variant Bardet-Biedl syndrome [RCV002197523] Chr2:169487100 [GRCh38]
Chr2:170343610 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.209-19C>A single nucleotide variant Bardet-Biedl syndrome [RCV002095282] Chr2:169487787 [GRCh38]
Chr2:170344297 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.925-15C>T single nucleotide variant Bardet-Biedl syndrome [RCV002194087] Chr2:169504466 [GRCh38]
Chr2:170360976 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.867A>G (p.Glu289=) single nucleotide variant Bardet-Biedl syndrome [RCV002173683] Chr2:169503145 [GRCh38]
Chr2:170359655 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.966T>G (p.Leu322=) single nucleotide variant Bardet-Biedl syndrome [RCV002090075] Chr2:169504522 [GRCh38]
Chr2:170361032 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.825G>A (p.Pro275=) single nucleotide variant Bardet-Biedl syndrome [RCV002152561] Chr2:169503103 [GRCh38]
Chr2:170359613 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.143-11T>C single nucleotide variant Bardet-Biedl syndrome [RCV002166797] Chr2:169487058 [GRCh38]
Chr2:170343568 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.480A>G (p.Val160=) single nucleotide variant BBS5-related disorder [RCV003958534]|Bardet-Biedl syndrome [RCV002180672] Chr2:169492967 [GRCh38]
Chr2:170349477 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.681+15A>G single nucleotide variant Bardet-Biedl syndrome [RCV002139528] Chr2:169497704 [GRCh38]
Chr2:170354214 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.219C>T (p.Tyr73=) single nucleotide variant Bardet-Biedl syndrome [RCV002160587] Chr2:169487816 [GRCh38]
Chr2:170344326 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.60-19A>G single nucleotide variant Bardet-Biedl syndrome [RCV002160597] Chr2:169482232 [GRCh38]
Chr2:170338742 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.523-11G>A single nucleotide variant Bardet-Biedl syndrome [RCV002099191] Chr2:169493730 [GRCh38]
Chr2:170350240 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.531A>G (p.Leu177=) single nucleotide variant BBS5-related disorder [RCV003971162]|Bardet-Biedl syndrome [RCV002203323] Chr2:169493749 [GRCh38]
Chr2:170350259 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.523-18C>T single nucleotide variant Bardet-Biedl syndrome 5 [RCV002498109]|Bardet-Biedl syndrome [RCV002156699] Chr2:169493723 [GRCh38]
Chr2:170350233 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.142+3_142+10dup duplication Bardet-Biedl syndrome [RCV002101324] Chr2:169482334..169482335 [GRCh38]
Chr2:170338844..170338845 [GRCh37]
Chr2:2q31.1		 likely benign
NC_000002.11:g.(?_169853125)_(170344644_?)dup duplication Bardet-Biedl syndrome [RCV003113513]|not provided [RCV003113514] Chr2:169853125..170344644 [GRCh37]
Chr2:2q31.1		 uncertain significance|no classifications from unflagged records
NC_000002.11:g.(?_170344296)_(170382206_?)dup duplication Bardet-Biedl syndrome [RCV003113701] Chr2:170344296..170382206 [GRCh37]
Chr2:2q31.1		 uncertain significance
NC_000002.11:g.(?_170349364)_(170350366_?)del deletion Bardet-Biedl syndrome [RCV003113702] Chr2:170349364..170350366 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.259-7C>G single nucleotide variant Bardet-Biedl syndrome [RCV003118917] Chr2:169487980 [GRCh38]
Chr2:170344490 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.47A>T (p.Asp16Val) single nucleotide variant Bardet-Biedl syndrome [RCV003120031] Chr2:169479600 [GRCh38]
Chr2:170336110 [GRCh37]
Chr2:2q31.1		 uncertain significance
NC_000002.12:g.169477282_169483199del deletion Bardet-Biedl syndrome [RCV003150847] Chr2:169477282..169483199 [GRCh38]
Chr2:170333792..170339709 [GRCh37]
Chr2:2q31.1		 pathogenic
GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1 copy number loss 2q24 microdeletion syndrome [RCV002271993] Chr2:160347642..174075851 [GRCh37]
Chr2:2q24.2-31.1		 pathogenic
NM_152384.3(BBS5):c.550_552dup (p.Asn184_Val185insAsn) duplication Bardet-Biedl syndrome [RCV003150848] Chr2:169493767..169493768 [GRCh38]
Chr2:170350277..170350278 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.82G>T (p.Glu28Ter) single nucleotide variant Bardet-Biedl syndrome [RCV002470156] Chr2:169482273 [GRCh38]
Chr2:170338783 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.27G>T (p.Glu9Asp) single nucleotide variant Inborn genetic diseases [RCV002905617] Chr2:169479580 [GRCh38]
Chr2:170336090 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.293T>C (p.Leu98Pro) single nucleotide variant Bardet-Biedl syndrome [RCV002903604] Chr2:169488021 [GRCh38]
Chr2:170344531 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.209-19C>T single nucleotide variant Bardet-Biedl syndrome [RCV002948280] Chr2:169487787 [GRCh38]
Chr2:170344297 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.258+5G>A single nucleotide variant Bardet-Biedl syndrome [RCV003077035] Chr2:169487860 [GRCh38]
Chr2:170344370 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.259-13T>A single nucleotide variant Bardet-Biedl syndrome [RCV003034552] Chr2:169487974 [GRCh38]
Chr2:170344484 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.142+1del deletion Bardet-Biedl syndrome 5 [RCV002510680] Chr2:169482333 [GRCh38]
Chr2:170338843 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.1003G>C (p.Gly335Arg) single nucleotide variant Bardet-Biedl syndrome [RCV003012552] Chr2:169504559 [GRCh38]
Chr2:170361069 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.963G>A (p.Gly321=) single nucleotide variant Bardet-Biedl syndrome [RCV003074018] Chr2:169504519 [GRCh38]
Chr2:170361029 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.413G>C (p.Arg138Pro) single nucleotide variant Bardet-Biedl syndrome [RCV002863624] Chr2:169492900 [GRCh38]
Chr2:170349410 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.523-10T>C single nucleotide variant Bardet-Biedl syndrome [RCV002846653] Chr2:169493731 [GRCh38]
Chr2:170350241 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.901-6T>C single nucleotide variant Bardet-Biedl syndrome [RCV003021726] Chr2:169504297 [GRCh38]
Chr2:170360807 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.844G>T (p.Glu282Ter) single nucleotide variant Bardet-Biedl syndrome [RCV002760635] Chr2:169503122 [GRCh38]
Chr2:170359632 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.377C>T (p.Ala126Val) single nucleotide variant not provided [RCV002509946] Chr2:169488105 [GRCh38]
Chr2:170344615 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.34G>A (p.Asp12Asn) single nucleotide variant Bardet-Biedl syndrome [RCV002824065] Chr2:169479587 [GRCh38]
Chr2:170336097 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.59+5G>T single nucleotide variant Bardet-Biedl syndrome [RCV002866363] Chr2:169479617 [GRCh38]
Chr2:170336127 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.1009T>C (p.Trp337Arg) single nucleotide variant Bardet-Biedl syndrome [RCV002736609] Chr2:169504565 [GRCh38]
Chr2:170361075 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.720G>A (p.Val240=) single nucleotide variant Bardet-Biedl syndrome [RCV002690749] Chr2:169499524 [GRCh38]
Chr2:170356034 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.603A>G (p.Ile201Met) single nucleotide variant Bardet-Biedl syndrome [RCV002620228] Chr2:169493821 [GRCh38]
Chr2:170350331 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.607T>C (p.Tyr203His) single nucleotide variant Bardet-Biedl syndrome [RCV003080364] Chr2:169493825 [GRCh38]
Chr2:170350335 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.283C>G (p.Leu95Val) single nucleotide variant Bardet-Biedl syndrome [RCV003021211] Chr2:169488011 [GRCh38]
Chr2:170344521 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.209-9G>A single nucleotide variant Bardet-Biedl syndrome [RCV002848296] Chr2:169487797 [GRCh38]
Chr2:170344307 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.794T>A (p.Val265Asp) single nucleotide variant Inborn genetic diseases [RCV002784395] Chr2:169499598 [GRCh38]
Chr2:170356108 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.60-11A>G single nucleotide variant Bardet-Biedl syndrome [RCV002791394] Chr2:169482240 [GRCh38]
Chr2:170338750 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.428G>A (p.Arg143Lys) single nucleotide variant Bardet-Biedl syndrome [RCV002982387] Chr2:169492915 [GRCh38]
Chr2:170349425 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.353C>G (p.Pro118Arg) single nucleotide variant Bardet-Biedl syndrome [RCV002801054] Chr2:169488081 [GRCh38]
Chr2:170344591 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.452A>C (p.Gln151Pro) single nucleotide variant Bardet-Biedl syndrome [RCV002765751] Chr2:169492939 [GRCh38]
Chr2:170349449 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.925-4A>G single nucleotide variant BBS5-related disorder [RCV003404086]|Bardet-Biedl syndrome [RCV003084843] Chr2:169504477 [GRCh38]
Chr2:170360987 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.88C>T (p.Leu30Phe) single nucleotide variant Bardet-Biedl syndrome [RCV002643046] Chr2:169482279 [GRCh38]
Chr2:170338789 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.681+15A>C single nucleotide variant Bardet-Biedl syndrome [RCV002786724] Chr2:169497704 [GRCh38]
Chr2:170354214 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.24G>C (p.Trp8Cys) single nucleotide variant Bardet-Biedl syndrome [RCV002829254] Chr2:169479577 [GRCh38]
Chr2:170336087 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.479T>C (p.Val160Ala) single nucleotide variant Bardet-Biedl syndrome [RCV002786186] Chr2:169492966 [GRCh38]
Chr2:170349476 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.799T>G (p.Tyr267Asp) single nucleotide variant BBS5-related disorder [RCV003926426]|Bardet-Biedl syndrome [RCV002626630] Chr2:169499603 [GRCh38]
Chr2:170356113 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.715C>G (p.Pro239Ala) single nucleotide variant Inborn genetic diseases [RCV002673851] Chr2:169499519 [GRCh38]
Chr2:170356029 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.387-18G>C single nucleotide variant Bardet-Biedl syndrome [RCV002599422] Chr2:169492856 [GRCh38]
Chr2:170349366 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.142+19G>A single nucleotide variant Bardet-Biedl syndrome [RCV003062226] Chr2:169482352 [GRCh38]
Chr2:170338862 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.944_960del (p.Val315fs) deletion Bardet-Biedl syndrome [RCV002633055] Chr2:169504497..169504513 [GRCh38]
Chr2:170361007..170361023 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.896T>C (p.Phe299Ser) single nucleotide variant Bardet-Biedl syndrome [RCV002770660] Chr2:169503174 [GRCh38]
Chr2:170359684 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.17C>A (p.Ala6Glu) single nucleotide variant Bardet-Biedl syndrome [RCV003009962] Chr2:169479570 [GRCh38]
Chr2:170336080 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.714T>A (p.Asp238Glu) single nucleotide variant Bardet-Biedl syndrome [RCV003026292] Chr2:169499518 [GRCh38]
Chr2:170356028 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.523-4A>G single nucleotide variant Bardet-Biedl syndrome [RCV003048262] Chr2:169493737 [GRCh38]
Chr2:170350247 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.365C>A (p.Thr122Asn) single nucleotide variant Bardet-Biedl syndrome [RCV002576880]|Inborn genetic diseases [RCV004603201] Chr2:169488093 [GRCh38]
Chr2:170344603 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.890A>T (p.Asp297Val) single nucleotide variant Bardet-Biedl syndrome [RCV002583713] Chr2:169503168 [GRCh38]
Chr2:170359678 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.258+14dup duplication Bardet-Biedl syndrome [RCV003092425] Chr2:169487863..169487864 [GRCh38]
Chr2:170344373..170344374 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.619C>T (p.Arg207Cys) single nucleotide variant Bardet-Biedl syndrome [RCV002583705] Chr2:169497627 [GRCh38]
Chr2:170354137 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.924+12T>A single nucleotide variant Bardet-Biedl syndrome [RCV002586737] Chr2:169504338 [GRCh38]
Chr2:170360848 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.670A>C (p.Ser224Arg) single nucleotide variant Bardet-Biedl syndrome [RCV002607940] Chr2:169497678 [GRCh38]
Chr2:170354188 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.740T>G (p.Val247Gly) single nucleotide variant Bardet-Biedl syndrome [RCV002610963] Chr2:169499544 [GRCh38]
Chr2:170356054 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.623C>T (p.Ser208Leu) single nucleotide variant Bardet-Biedl syndrome [RCV002942551] Chr2:169497631 [GRCh38]
Chr2:170354141 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.658C>T (p.Leu220Phe) single nucleotide variant Bardet-Biedl syndrome [RCV002611200] Chr2:169497666 [GRCh38]
Chr2:170354176 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.682-20T>A single nucleotide variant Bardet-Biedl syndrome [RCV002603839] Chr2:169499466 [GRCh38]
Chr2:170355976 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.5_8dup (p.Leu4fs) duplication Bardet-Biedl syndrome [RCV003073272] Chr2:169479555..169479556 [GRCh38]
Chr2:170336065..170336066 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.164T>C (p.Leu55Ser) single nucleotide variant Bardet-Biedl syndrome [RCV003222518] Chr2:169487090 [GRCh38]
Chr2:170343600 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.682-1G>A single nucleotide variant Bardet-Biedl syndrome [RCV003222524] Chr2:169499485 [GRCh38]
Chr2:170355995 [GRCh37]
Chr2:2q31.1		 likely pathogenic|uncertain significance
NM_152384.3(BBS5):c.387-3T>C single nucleotide variant Bardet-Biedl syndrome 5 [RCV003143749] Chr2:169492871 [GRCh38]
Chr2:170349381 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.198del (p.Val67fs) deletion Bardet-Biedl syndrome [RCV003224781] Chr2:169487124 [GRCh38]
Chr2:170343634 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.499G>A (p.Val167Ile) single nucleotide variant Inborn genetic diseases [RCV003353839] Chr2:169492986 [GRCh38]
Chr2:170349496 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.60-17C>T single nucleotide variant Bardet-Biedl syndrome [RCV003825731] Chr2:169482234 [GRCh38]
Chr2:170338744 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.171T>C (p.Ile57=) single nucleotide variant Bardet-Biedl syndrome [RCV003874952] Chr2:169487097 [GRCh38]
Chr2:170343607 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.386+10T>C single nucleotide variant Bardet-Biedl syndrome [RCV003874878] Chr2:169488124 [GRCh38]
Chr2:170344634 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.420dup (p.Lys141Ter) duplication Bardet-Biedl syndrome 5 [RCV003448659] Chr2:169492903..169492904 [GRCh38]
Chr2:170349413..170349414 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.221A>C (p.Asn74Thr) single nucleotide variant BBS5-related disorder [RCV003402375] Chr2:169487818 [GRCh38]
Chr2:170344328 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.444del (p.Asn149fs) deletion Bardet-Biedl syndrome [RCV003882678] Chr2:169492931 [GRCh38]
Chr2:170349441 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.1A>T (p.Met1Leu) single nucleotide variant Bardet-Biedl syndrome 5 [RCV003988160]|Bardet-Biedl syndrome [RCV003876021] Chr2:169479554 [GRCh38]
Chr2:170336064 [GRCh37]
Chr2:2q31.1		 pathogenic|likely pathogenic
NM_152384.3(BBS5):c.681+13A>G single nucleotide variant Bardet-Biedl syndrome [RCV003524697] Chr2:169497702 [GRCh38]
Chr2:170354212 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.618+12C>T single nucleotide variant Bardet-Biedl syndrome [RCV003524868] Chr2:169493848 [GRCh38]
Chr2:170350358 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.255C>T (p.Asn85=) single nucleotide variant Bardet-Biedl syndrome [RCV003830292] Chr2:169487852 [GRCh38]
Chr2:170344362 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.259-10_259-6dup duplication Bardet-Biedl syndrome [RCV003829125] Chr2:169487975..169487976 [GRCh38]
Chr2:170344485..170344486 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.828C>T (p.Leu276=) single nucleotide variant Bardet-Biedl syndrome [RCV003829121] Chr2:169503106 [GRCh38]
Chr2:170359616 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.381A>T (p.Val127=) single nucleotide variant Bardet-Biedl syndrome [RCV003524622] Chr2:169488109 [GRCh38]
Chr2:170344619 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.682-9C>A single nucleotide variant Bardet-Biedl syndrome [RCV003828093] Chr2:169499477 [GRCh38]
Chr2:170355987 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.681+10T>G single nucleotide variant Bardet-Biedl syndrome [RCV003879340] Chr2:169497699 [GRCh38]
Chr2:170354209 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.816+15A>T single nucleotide variant Bardet-Biedl syndrome [RCV003877721] Chr2:169499635 [GRCh38]
Chr2:170356145 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.729A>T (p.Leu243=) single nucleotide variant Bardet-Biedl syndrome [RCV003524719] Chr2:169499533 [GRCh38]
Chr2:170356043 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.58C>T (p.Gln20Ter) single nucleotide variant Bardet-Biedl syndrome [RCV003524867] Chr2:169479611 [GRCh38]
Chr2:170336121 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.901-11T>G single nucleotide variant Bardet-Biedl syndrome [RCV003634959] Chr2:169504292 [GRCh38]
Chr2:170360802 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.54C>A (p.Ser18=) single nucleotide variant Bardet-Biedl syndrome [RCV003633836] Chr2:169479607 [GRCh38]
Chr2:170336117 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.60-14T>C single nucleotide variant Bardet-Biedl syndrome [RCV003524511] Chr2:169482237 [GRCh38]
Chr2:170338747 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.246G>A (p.Arg82=) single nucleotide variant Bardet-Biedl syndrome [RCV003634971] Chr2:169487843 [GRCh38]
Chr2:170344353 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.642A>G (p.Ser214=) single nucleotide variant Bardet-Biedl syndrome [RCV003523274] Chr2:169497650 [GRCh38]
Chr2:170354160 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.562dup (p.Val188fs) duplication Bardet-Biedl syndrome [RCV003633959] Chr2:169493779..169493780 [GRCh38]
Chr2:170350289..170350290 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.960G>A (p.Leu320=) single nucleotide variant Bardet-Biedl syndrome [RCV003633859] Chr2:169504516 [GRCh38]
Chr2:170361026 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.387-4A>T single nucleotide variant Bardet-Biedl syndrome [RCV003633930] Chr2:169492870 [GRCh38]
Chr2:170349380 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.1005A>G (p.Gly335=) single nucleotide variant Bardet-Biedl syndrome [RCV003633784] Chr2:169504561 [GRCh38]
Chr2:170361071 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.143-19T>C single nucleotide variant Bardet-Biedl syndrome [RCV003635160] Chr2:169487050 [GRCh38]
Chr2:170343560 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.522+8G>A single nucleotide variant Bardet-Biedl syndrome [RCV003635191] Chr2:169493017 [GRCh38]
Chr2:170349527 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.900+9C>A single nucleotide variant Bardet-Biedl syndrome [RCV003523439] Chr2:169503187 [GRCh38]
Chr2:170359697 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.522+10A>G single nucleotide variant Bardet-Biedl syndrome [RCV003522359] Chr2:169493019 [GRCh38]
Chr2:170349529 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.843C>T (p.Val281=) single nucleotide variant Bardet-Biedl syndrome [RCV003523484] Chr2:169503121 [GRCh38]
Chr2:170359631 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.259-1G>A single nucleotide variant Bardet-Biedl syndrome [RCV003523702] Chr2:169487986 [GRCh38]
Chr2:170344496 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.556_557delinsTA (p.Arg186Ter) indel Bardet-Biedl syndrome [RCV003633119] Chr2:169493774..169493775 [GRCh38]
Chr2:170350284..170350285 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.681+1G>T single nucleotide variant Bardet-Biedl syndrome [RCV003633189] Chr2:169497690 [GRCh38]
Chr2:170354200 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.120C>A (p.Thr40=) single nucleotide variant Bardet-Biedl syndrome [RCV003633059] Chr2:169482311 [GRCh38]
Chr2:170338821 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.477T>C (p.His159=) single nucleotide variant Bardet-Biedl syndrome [RCV003634265] Chr2:169492964 [GRCh38]
Chr2:170349474 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.618+10T>C single nucleotide variant Bardet-Biedl syndrome [RCV003634342] Chr2:169493846 [GRCh38]
Chr2:170350356 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.999A>G (p.Leu333=) single nucleotide variant Bardet-Biedl syndrome [RCV003522590] Chr2:169504555 [GRCh38]
Chr2:170361065 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.60-7A>T single nucleotide variant Bardet-Biedl syndrome [RCV003633179] Chr2:169482244 [GRCh38]
Chr2:170338754 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.59+12A>G single nucleotide variant Bardet-Biedl syndrome [RCV003633278] Chr2:169479624 [GRCh38]
Chr2:170336134 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.969A>C (p.Ala323=) single nucleotide variant Bardet-Biedl syndrome [RCV003851982] Chr2:169504525 [GRCh38]
Chr2:170361035 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.682-7C>A single nucleotide variant Bardet-Biedl syndrome [RCV003522818] Chr2:169499479 [GRCh38]
Chr2:170355989 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.259-12T>A single nucleotide variant Bardet-Biedl syndrome [RCV003522819] Chr2:169487975 [GRCh38]
Chr2:170344485 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.6G>A (p.Ser2=) single nucleotide variant Bardet-Biedl syndrome [RCV003634434] Chr2:169479559 [GRCh38]
Chr2:170336069 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.143-12G>C single nucleotide variant Bardet-Biedl syndrome [RCV003633766] Chr2:169487057 [GRCh38]
Chr2:170343567 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.682-16A>T single nucleotide variant Bardet-Biedl syndrome [RCV003850502] Chr2:169499470 [GRCh38]
Chr2:170355980 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.60-9T>G single nucleotide variant Bardet-Biedl syndrome [RCV003856693] Chr2:169482242 [GRCh38]
Chr2:170338752 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.894T>G (p.Ala298=) single nucleotide variant Bardet-Biedl syndrome [RCV003522635] Chr2:169503172 [GRCh38]
Chr2:170359682 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.259-8C>T single nucleotide variant Bardet-Biedl syndrome [RCV003635018] Chr2:169487979 [GRCh38]
Chr2:170344489 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.45C>T (p.Phe15=) single nucleotide variant Bardet-Biedl syndrome [RCV003633292] Chr2:169479598 [GRCh38]
Chr2:170336108 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.342T>G (p.Val114=) single nucleotide variant Bardet-Biedl syndrome [RCV003633927] Chr2:169488070 [GRCh38]
Chr2:170344580 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.816+7T>C single nucleotide variant Bardet-Biedl syndrome [RCV003634582] Chr2:169499627 [GRCh38]
Chr2:170356137 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.855A>G (p.Gln285=) single nucleotide variant Bardet-Biedl syndrome [RCV003835112] Chr2:169503133 [GRCh38]
Chr2:170359643 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.143-13TG[2] microsatellite Bardet-Biedl syndrome [RCV003633341] Chr2:169487056..169487057 [GRCh38]
Chr2:170343566..170343567 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.906T>C (p.Tyr302=) single nucleotide variant Bardet-Biedl syndrome [RCV003633362] Chr2:169504308 [GRCh38]
Chr2:170360818 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.180C>T (p.His60=) single nucleotide variant Bardet-Biedl syndrome [RCV003523580] Chr2:169487106 [GRCh38]
Chr2:170343616 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.424T>C (p.Leu142=) single nucleotide variant Bardet-Biedl syndrome [RCV003634077] Chr2:169492911 [GRCh38]
Chr2:170349421 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.258+14A>G single nucleotide variant Bardet-Biedl syndrome [RCV003634156] Chr2:169487869 [GRCh38]
Chr2:170344379 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.6G>C (p.Ser2=) single nucleotide variant Bardet-Biedl syndrome [RCV003524151] Chr2:169479559 [GRCh38]
Chr2:170336069 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.59+13G>T single nucleotide variant Bardet-Biedl syndrome [RCV003634210] Chr2:169479625 [GRCh38]
Chr2:170336135 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.258+19A>G single nucleotide variant Bardet-Biedl syndrome [RCV003815894] Chr2:169487874 [GRCh38]
Chr2:170344384 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.387-14del deletion Bardet-Biedl syndrome [RCV003635082] Chr2:169492860 [GRCh38]
Chr2:170349370 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.189A>T (p.Ala63=) single nucleotide variant Bardet-Biedl syndrome [RCV003635381] Chr2:169487115 [GRCh38]
Chr2:170343625 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.918C>A (p.Gly306=) single nucleotide variant Bardet-Biedl syndrome [RCV003523228] Chr2:169504320 [GRCh38]
Chr2:170360830 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.108C>A (p.Ser36=) single nucleotide variant Bardet-Biedl syndrome [RCV003635399] Chr2:169482299 [GRCh38]
Chr2:170338809 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.387-10T>G single nucleotide variant Bardet-Biedl syndrome [RCV003523340] Chr2:169492864 [GRCh38]
Chr2:170349374 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.523-5del deletion Bardet-Biedl syndrome [RCV003634200] Chr2:169493731 [GRCh38]
Chr2:170350241 [GRCh37]
Chr2:2q31.1		 benign
NM_152384.3(BBS5):c.54C>G (p.Ser18=) single nucleotide variant Bardet-Biedl syndrome [RCV003634323] Chr2:169479607 [GRCh38]
Chr2:170336117 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.209-17T>C single nucleotide variant Bardet-Biedl syndrome [RCV003633038] Chr2:169487789 [GRCh38]
Chr2:170344299 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.924+11T>G single nucleotide variant Bardet-Biedl syndrome [RCV003633169] Chr2:169504337 [GRCh38]
Chr2:170360847 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.789T>C (p.Phe263=) single nucleotide variant Bardet-Biedl syndrome [RCV003633275] Chr2:169499593 [GRCh38]
Chr2:170356103 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.135A>G (p.Gly45=) single nucleotide variant Bardet-Biedl syndrome [RCV003634961] Chr2:169482326 [GRCh38]
Chr2:170338836 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.576T>C (p.Asn192=) single nucleotide variant Bardet-Biedl syndrome [RCV003634912] Chr2:169493794 [GRCh38]
Chr2:170350304 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.59+19C>A single nucleotide variant Bardet-Biedl syndrome [RCV003634359] Chr2:169479631 [GRCh38]
Chr2:170336141 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.18G>T (p.Ala6=) single nucleotide variant Bardet-Biedl syndrome [RCV003634929] Chr2:169479571 [GRCh38]
Chr2:170336081 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.825G>T (p.Pro275=) single nucleotide variant Bardet-Biedl syndrome [RCV003633756] Chr2:169503103 [GRCh38]
Chr2:170359613 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.386+13T>C single nucleotide variant Bardet-Biedl syndrome [RCV003635377] Chr2:169488127 [GRCh38]
Chr2:170344637 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.237T>C (p.Ile79=) single nucleotide variant Bardet-Biedl syndrome [RCV003524424] Chr2:169487834 [GRCh38]
Chr2:170344344 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.54dup (p.Ala19fs) duplication Bardet-Biedl syndrome [RCV003633298] Chr2:169479605..169479606 [GRCh38]
Chr2:170336115..170336116 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.210T>C (p.Ser70=) single nucleotide variant Bardet-Biedl syndrome [RCV003633936] Chr2:169487807 [GRCh38]
Chr2:170344317 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.258+7C>G single nucleotide variant Bardet-Biedl syndrome [RCV003523475] Chr2:169487862 [GRCh38]
Chr2:170344372 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.708A>G (p.Lys236=) single nucleotide variant Bardet-Biedl syndrome [RCV003523681] Chr2:169499512 [GRCh38]
Chr2:170356022 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.208+13G>T single nucleotide variant Bardet-Biedl syndrome [RCV003524324] Chr2:169487147 [GRCh38]
Chr2:170343657 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.924+16T>G single nucleotide variant Bardet-Biedl syndrome [RCV003633015] Chr2:169504342 [GRCh38]
Chr2:170360852 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.492A>C (p.Ile164=) single nucleotide variant Bardet-Biedl syndrome [RCV003523317] Chr2:169492979 [GRCh38]
Chr2:170349489 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.60-19A>T single nucleotide variant Bardet-Biedl syndrome [RCV003633810] Chr2:169482232 [GRCh38]
Chr2:170338742 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.681+8C>G single nucleotide variant Bardet-Biedl syndrome [RCV003815963] Chr2:169497697 [GRCh38]
Chr2:170354207 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.681+19T>C single nucleotide variant Bardet-Biedl syndrome [RCV003838825] Chr2:169497708 [GRCh38]
Chr2:170354218 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.618+12C>A single nucleotide variant Bardet-Biedl syndrome [RCV003633168] Chr2:169493848 [GRCh38]
Chr2:170350358 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.925-19C>G single nucleotide variant Bardet-Biedl syndrome [RCV003634349] Chr2:169504462 [GRCh38]
Chr2:170360972 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.386+11A>G single nucleotide variant Bardet-Biedl syndrome [RCV003635180] Chr2:169488125 [GRCh38]
Chr2:170344635 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.60-2A>C single nucleotide variant Bardet-Biedl syndrome [RCV003633319] Chr2:169482249 [GRCh38]
Chr2:170338759 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NM_152384.3(BBS5):c.682-6T>A single nucleotide variant Bardet-Biedl syndrome [RCV003523553] Chr2:169499480 [GRCh38]
Chr2:170355990 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.59+13del deletion Bardet-Biedl syndrome [RCV003861092] Chr2:169479625 [GRCh38]
Chr2:170336135 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.618+11dup duplication Bardet-Biedl syndrome [RCV003853784] Chr2:169493846..169493847 [GRCh38]
Chr2:170350356..170350357 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.345T>G (p.Pro115=) single nucleotide variant BBS5-related disorder [RCV003949057]|Bardet-Biedl syndrome [RCV003841139] Chr2:169488073 [GRCh38]
Chr2:170344583 [GRCh37]
Chr2:2q31.1		 likely benign
GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1 copy number loss not specified [RCV003986346] Chr2:162692199..174452488 [GRCh37]
Chr2:2q24.2-31.1		 pathogenic
NM_152384.3(BBS5):c.399T>C (p.Thr133=) single nucleotide variant Bardet-Biedl syndrome [RCV003818951] Chr2:169492886 [GRCh38]
Chr2:170349396 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.816+17G>A single nucleotide variant Bardet-Biedl syndrome [RCV003863542] Chr2:169499637 [GRCh38]
Chr2:170356147 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.736T>G (p.Ser246Ala) single nucleotide variant Inborn genetic diseases [RCV004426061] Chr2:169499540 [GRCh38]
Chr2:170356050 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.619-35A>C single nucleotide variant BBS5-related disorder [RCV003922063] Chr2:169497592 [GRCh38]
Chr2:170354102 [GRCh37]
Chr2:2q31.1		 likely benign
NM_152384.3(BBS5):c.619-5T>G single nucleotide variant BBS5-related disorder [RCV003914304] Chr2:169497622 [GRCh38]
Chr2:170354132 [GRCh37]
Chr2:2q31.1		 uncertain significance
NM_152384.3(BBS5):c.116A>G (p.Asp39Gly) single nucleotide variant Inborn genetic diseases [RCV004606994] Chr2:169482307 [GRCh38]
Chr2:170338817 [GRCh37]
Chr2:2q31.1		 uncertain significance
NC_000002.11:g.(?_170343559)_(170350366_?)dup duplication Bardet-Biedl syndrome [RCV004582494] Chr2:170343559..170350366 [GRCh37]
Chr2:2q31.1		 likely pathogenic
NC_000002.11:g.(?_170338741)_(170343664_?)del deletion Bardet-Biedl syndrome [RCV004582492] Chr2:170338741..170343664 [GRCh37]
Chr2:2q31.1		 pathogenic
NM_152384.3(BBS5):c.208+5G>A single nucleotide variant Bardet-Biedl syndrome 5 [RCV004577994] Chr2:169487139 [GRCh38]
Chr2:170343649 [GRCh37]
Chr2:2q31.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2804
Count of miRNA genes:730
Interacting mature miRNAs:827
Transcripts:ENST00000295240, ENST00000392663, ENST00000443151, ENST00000469980, ENST00000472667, ENST00000475571, ENST00000554017
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D2S1854  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372170,356,076 - 170,356,214UniSTSGRCh37
Build 362170,064,322 - 170,064,460RGDNCBI36
Celera2163,975,184 - 163,975,322RGD
Cytogenetic Map2q31.1UniSTS
HuRef2162,246,704 - 162,246,842UniSTS
Whitehead-RH Map2894.2UniSTS
Whitehead-YAC Contig Map2 UniSTS
L18441  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map10q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16q24UniSTS


Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_152384 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA043704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK097935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL834305 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY604003 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY604004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC044593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP311042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA336791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CD245392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CS300753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H09195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178858 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000295240   ⟹   ENSP00000295240
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2169,479,494 - 169,506,655 (+)Ensembl
Ensembl Acc Id: ENST00000392663   ⟹   ENSP00000376431
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2169,479,483 - 169,506,655 (+)Ensembl
Ensembl Acc Id: ENST00000443151   ⟹   ENSP00000406182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2169,479,502 - 169,497,655 (+)Ensembl
Ensembl Acc Id: ENST00000469980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2169,479,480 - 169,482,710 (+)Ensembl
Ensembl Acc Id: ENST00000472667
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2169,499,034 - 169,506,490 (+)Ensembl
Ensembl Acc Id: ENST00000475571
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2169,487,762 - 169,493,086 (+)Ensembl
RefSeq Acc Id: NM_152384   ⟹   NP_689597
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382169,479,494 - 169,506,655 (+)NCBI
GRCh372170,335,967 - 170,363,165 (+)NCBI
Build 362170,044,252 - 170,071,411 (+)NCBI Archive
HuRef2162,226,706 - 162,253,744 (+)ENTREZGENE
CHM1_12170,341,905 - 170,369,079 (+)NCBI
T2T-CHM13v2.02169,956,107 - 169,983,895 (+)NCBI
Sequence:
RefSeq Acc Id: NP_689597   ⟸   NM_152384
- UniProtKB: Q8N3I7 (UniProtKB/Swiss-Prot),   Q6PKN0 (UniProtKB/Swiss-Prot),   D3DPC3 (UniProtKB/Swiss-Prot),   A0A0S2Z626 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000295240   ⟸   ENST00000295240
Ensembl Acc Id: ENSP00000406182   ⟸   ENST00000443151
Ensembl Acc Id: ENSP00000376431   ⟸   ENST00000392663

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8N3I7-F1-model_v2 AlphaFold Q8N3I7 1-341 view protein structure

Promoters
RGD ID:6861954
Promoter ID:EPDNEW_H4142
Type:multiple initiation site
Name:BBS5_3
Description:Bardet-Biedl syndrome 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4143  EPDNEW_H4144  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382169,478,790 - 169,478,850EPDNEW
RGD ID:6861956
Promoter ID:EPDNEW_H4143
Type:initiation region
Name:BBS5_1
Description:Bardet-Biedl syndrome 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4142  EPDNEW_H4144  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382169,479,494 - 169,479,554EPDNEW
RGD ID:6861958
Promoter ID:EPDNEW_H4144
Type:initiation region
Name:BBS5_2
Description:Bardet-Biedl syndrome 5
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4142  EPDNEW_H4143  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382169,504,756 - 169,504,816EPDNEW
RGD ID:6796848
Promoter ID:HG_KWN:35790
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000255265,   OTTHUMT00000333290,   OTTHUMT00000333292,   OTTHUMT00000333293
Position:
Human AssemblyChrPosition (strand)Source
Build 362170,043,996 - 170,044,496 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:970 AgrOrtholog
COSMIC BBS5 COSMIC
Ensembl Genes ENSG00000163093 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000295240 ENTREZGENE
  ENST00000295240.8 UniProtKB/Swiss-Prot
  ENST00000392663.6 UniProtKB/Swiss-Prot
  ENST00000443151.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.29.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000163093 GTEx
HGNC ID HGNC:970 ENTREZGENE
Human Proteome Map BBS5 Human Proteome Map
InterPro BBL5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  BBS5/fem-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DM16_repeat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PH-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:129880 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene BBS5 ENTREZGENE
OMIM 603650 OMIM
PANTHER BARDET-BIEDL SYNDROME 5 PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR21351 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam BBL5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA25279 PharmGKB
PIRSF DUF1448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART DM16 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0S2Z626 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z6S7_HUMAN UniProtKB/TrEMBL
  BBS5_HUMAN UniProtKB/Swiss-Prot
  D3DPC3 ENTREZGENE
  F8WBR7_HUMAN UniProtKB/TrEMBL
  Q6PKN0 ENTREZGENE
  Q8N3I7 ENTREZGENE
UniProt Secondary D3DPC3 UniProtKB/Swiss-Prot
  Q6PKN0 UniProtKB/Swiss-Prot