MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:1225
Name:Bardet-Biedl syndrome 1
Definition:
Alternative IDs:OMIM:209900
ParentIDs:MESH:D020788
TreeNumbers:C10.228.140.617.200/C537909 |C11.270.684.624/C537909 |C16.131.077.245.125/C537909 |C16.320.184.125/C537909
Synonyms:BBS1
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537909
MeSH: C537909
OMIM: 209900;
MSeqDR LSDB:  
Genes: ARL6; BBS1; CCDC28B; TMEM67;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000077Abnormality of the kidney
NAMDC:  Abnormality of the kidney
3 HP:0000137Abnormality of the ovary
4 HP:0002251Aganglionic megacolonHP:0040283
5 HP:0002099Asthma
6 HP:0000483Astigmatism
7 HP:0001251Ataxia
8 HP:0001080Biliary tract abnormality
9 HP:0001156Brachydactyly
10 HP:0001769Broad foot
11 HP:0000518Cataract
NAMDC:  Cataracts
12 HP:0008734Decreased testicular size
13 HP:0000750Delayed speech and language development
NAMDC:  Delayed language
14 HP:0000678Dental crowding
15 HP:0000819Diabetes mellitus
NAMDC:  Diabetes mellitus
16 HP:0001829Foot polydactyly
17 HP:0002141Gait imbalance
18 HP:0000501Glaucoma
19 HP:0001263Global developmental delay
NAMDC:  Delayed development (evidence of at least one of A through F)
20 HP:0001263Global developmental delay
NAMDC:  Mental retardation
21 HP:0000365Hearing impairment
22 HP:0001395Hepatic fibrosis
23 HP:0000218High palate
24 HP:0002705High, narrow palate
25 HP:0001007Hirsutism
26 HP:0000822Hypertension
27 HP:0000668Hypodontia
28 HP:0000135Hypogonadism
NAMDC:  Hypoparathyroidism
29 HP:0001249Intellectual disability
30 HP:0001712Left ventricular hypertrophy
31 HP:0000256Macrocephaly
32 HP:0000054Micropenis
33 HP:0000545Myopia
34 HP:0009806Nephrogenic diabetes insipidus
35 HP:0002167Neurological speech impairment
36 HP:0000639Nystagmus
37 HP:0001513Obesity
38 HP:0002370Poor coordination
39 HP:0001162Postaxial hand polydactyly
40 HP:0009466Radial deviation of finger
41 HP:0000546Retinal degeneration
42 HP:0000510Rod-cone dystrophy
43 HP:0001773Short foot
44 HP:0001328Specific learning disability
45 HP:0000486Strabismus
46 HP:0001159Syndactyly
47 HP:0000148Vaginal atresia
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001195306.1(BBIP1):c.173T>G (p.Leu58Ter)92482BBIP1Pathogenicrs515726134RCV000114318|RCV000114434; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014446,MedGen:C3806174,OMIM:615995, Orphanet:11010112660224112660224AC10:g.112660224A>CClinGen:CA151209,OMIM:613605.0001
NM_024649.5(BBS1):c.1A>C (p.Met1Leu)582BBS1Likely pathogenicrs1306821707RCV000671318; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116627813166278131AC11:g.66278131A>C-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1A>T (p.Met1Leu)582BBS1Likely pathogenicrs1306821707RCV000669884; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116627813166278131AT11:g.66278131A>T-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.6C>T (p.Ala2=)582BBS1Conflicting interpretations of pathogenicityrs143592479RCV000360531|RCV001093962|RCV001274030; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116627813666278136CT11:g.66278136C>TClinGen:CA6123176C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.17dup (p.Ser7fs)582BBS1Pathogenic/Likely pathogenicrs1166022838RCV000470099|RCV000984150|RCV001075560; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:000797116627814666278147TTC11:g.66278146_66278147insCClinGen:CA16613496
NM_024649.5(BBS1):c.24T>C (p.Asp8=)582BBS1Benign/Likely benignrs55848325RCV000173529|RCV000226235|RCV000709651|RCV001272371; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116627815466278154TC11:g.66278154T>CClinGen:CA200595C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.47+2T>C582BBS1Likely pathogenicrs1182864166RCV000668745; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116627817966278179TC11:g.66278179T>C-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.48-3C>G582BBS1Pathogenicrs869025204RCV000207828; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116627848166278481CG11:g.66278481C>GClinGen:CA351676C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.48-2A>C582BBS1Likely pathogenicrs764245266RCV000409451; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116627848266278482AC11:g.66278482A>CClinGen:CA6123222
NM_024649.5(BBS1):c.48-1G>T582BBS1Likely pathogenicrs751753112RCV000666501; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116627848366278483GT11:g.66278483G>T-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.71T>A (p.Leu24Ter)582BBS1Likely pathogenic-1RCV001263833; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116627850766278507TA11:g.66278507T>A-
NM_024649.5(BBS1):c.118del (p.Cys40fs)582BBS1Pathogenicrs1490351829RCV000988579|RCV001247808; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110116627855466278554CTC11:g.66278554_66278554del-
NM_024649.5(BBS1):c.124+1G>C582BBS1Likely pathogenicrs1057516449RCV000411354; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116627856166278561GC11:g.66278561G>CClinGen:CA16041518
NM_024649.5(BBS1):c.124+1G>A582BBS1Pathogenicrs1057516449RCV000673570; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116627856166278561GA11:g.66278561G>A-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.158dup (p.Leu54fs)582BBS1Likely pathogenicrs1313590454RCV000671952; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116627870766278708CCA11:g.66278707_66278708insA-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.159+2T>A582BBS1Likely pathogenicrs1057516507RCV000410043; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116627871266278712TA11:g.66278712T>AClinGen:CA16041519C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.182del (p.Pro61fs)582BBS1Likely pathogenicrs1057517007RCV000410530; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628189766281897GCG11:g.66281897_66281897delClinGen:CA16041520C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.190C>G (p.Gln64Glu)582BBS1Uncertain significancers369843749RCV000268188|RCV001243569; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110116628190766281907CG11:g.66281907C>GClinGen:CA6123287C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.200G>A (p.Arg67His)582BBS1Uncertain significance-1RCV001107113|RCV001242391|RCV001278000; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|116628191766281917GA11:g.66281917G>A-
NM_024649.5(BBS1):c.214A>T (p.Lys72Ter)582BBS1Likely pathogenic-1RCV001263834; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628193166281931AT11:g.66281931A>T-
NM_024649.5(BBS1):c.223_224del (p.Leu75fs)582BBS1Pathogenic/Likely pathogenicrs1057516451RCV000412002|RCV001073741|RCV001237365; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:0007974,Human Phenotype Ontology:HP:0007982,MONDO:MONDO:0019118,MeSH:116628194066281941ACTA11:g.66281940_66281941delClinGen:CA16041521
NM_024649.5(BBS1):c.235G>A (p.Glu79Lys)582BBS1Uncertain significancers138744839RCV000302278|RCV000710723|RCV000764994|RCV001272372; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116628195266281952GA11:g.66281952G>AClinGen:CA6123294
NM_024649.5(BBS1):c.243G>A (p.Pro81=)582BBS1Conflicting interpretations of pathogenicityrs141429900RCV000864554|RCV001107114; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628196066281960GA11:g.66281960G>A-
NM_024649.5(BBS1):c.316C>G (p.Leu106Val)582BBS1Uncertain significancers137853913RCV000086980|RCV000359402|RCV000764995|RCV001274032; NMedGen:CN517202|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116628203366282033CG11:g.66282033C>GClinGen:CA228932C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.338A>G (p.Tyr113Cys)582BBS1Uncertain significance-1RCV001107115; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628205566282055AG11:g.66282055A>G-
NM_024649.5(BBS1):c.345dup (p.Lys116Ter)582BBS1Pathogenic/Likely pathogenicrs1555046611RCV000671467|RCV001049362; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110116628206166282062AAT11:g.66282061_66282062insT-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter)582BBS1Pathogenic-1RCV001175185; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628208066282080CA11:g.66282080C>A-
NM_024649.5(BBS1):c.378G>A (p.Leu126=)582BBS1Benignrs2298806RCV000247494|RCV000262515|RCV000589192|RCV000709660|RCV001272373; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116628209566282095GA11:g.66282095G>AClinGen:CA6123317
NM_024649.5(BBS1):c.406C>T (p.Gln136Ter)582BBS1Likely pathogenic-1RCV001263835; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628212366282123CT11:g.66282123C>T-
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)582BBS1Conflicting interpretations of pathogenicityrs878855095RCV000230074|RCV000778336; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628213366282133GA11:g.66282133G>AClinGen:CA10582948C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.432+1G>A582BBS1Pathogenic/Likely pathogenicrs587777829RCV000012928|RCV000169013; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110116628215066282150GA11:g.66282150G>AClinGen:CA256228,OMIM:209901.0003
NM_024649.5(BBS1):c.432+9_432+12del582BBS1Likely benignrs1555046629RCV000665058; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628215166282154GTAAAG11:g.66282151_66282154del-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.432+13C>T582BBS1Conflicting interpretations of pathogenicityrs759287238RCV000709656; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628216266282162CT11:g.66282162C>TClinGen:CA6123326
NM_024649.5(BBS1):c.433-2A>G582BBS1Likely pathogenicrs1555046748RCV000675034; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628300966283009AG11:g.66283009A>G-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.441C>T (p.Ile147=)582BBS1Uncertain significance-1RCV001107116|RCV001278002; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116628301966283019CT11:g.66283019C>T-
NM_024649.5(BBS1):c.447C>T (p.Pro149=)582BBS1Uncertain significancers763738657RCV000372823; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628302566283025CT11:g.66283025C>TClinGen:CA6123348
NM_024649.5(BBS1):c.478C>T (p.Arg160Trp)582BBS1Uncertain significance-1RCV001048548|RCV001198224; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628305666283056CT11:g.66283056C>T-
NM_024649.5(BBS1):c.479G>A (p.Arg160Gln)582BBS1Pathogenic/Likely pathogenicrs376894444RCV000411434|RCV000504813|RCV001074216|RCV001092069; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phe116628305766283057GA11:g.66283057G>AClinGen:CA6123351
NM_024649.5(BBS1):c.479+2T>G582BBS1Likely pathogenicrs1353098253RCV000666424; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628305966283059TG11:g.66283059T>G-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.480-1G>C582BBS1Likely pathogenicrs1057516933RCV000409654; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628316366283163GC11:g.66283163G>CClinGen:CA16041522
NM_024649.5(BBS1):c.485C>A (p.Thr162Lys)582BBS1Uncertain significance-1RCV001107783; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628316966283169CA11:g.66283169C>A-
NM_024649.5(BBS1):c.496C>G (p.Pro166Ala)582BBS1Uncertain significance-1RCV001107784; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628318066283180CG11:g.66283180C>G-
NM_024649.5(BBS1):c.518+1G>A582BBS1Likely pathogenicrs771517209RCV000667863; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628320366283203GA11:g.66283203G>A-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.519-2A>G582BBS1Likely pathogenicrs1057516502RCV000411894; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628333066283330AG11:g.66283330A>GClinGen:CA16041523C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.616T>G (p.Leu206Val)582BBS1Conflicting interpretations of pathogenicityrs146052054RCV000455067|RCV000726642|RCV001081824|RCV001107785; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628711266287112TG11:g.66287112T>GClinGen:CA6123433C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.636C>T (p.Asp212=)582BBS1Uncertain significancers775900681RCV000275971; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628713266287132CT11:g.66287132C>TClinGen:CA6123435
NM_024649.5(BBS1):c.664G>C (p.Gly222Arg)582BBS1Uncertain significancers761760689RCV000670649; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628716066287160GC11:g.66287160G>C-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)582BBS1Benign/Likely benignrs35520756RCV000029405|RCV000243662|RCV000436346|RCV000988580|RCV001272377; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116628719666287196GA11:g.66287196G>AClinGen:CA260181,UniProtKB:Q8NFJ9#VAR_017215,OMIM:209901.0006C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.700G>T (p.Glu234Ter)582BBS1Likely pathogenic-1RCV001263836; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628719666287196GT11:g.66287196G>T-
NM_024649.5(BBS1):c.724-8G>C582BBS1Benignrs10896125RCV000082204|RCV000385461|RCV000709650|RCV001272379; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116628873366288733GC11:g.66288733G>CClinGen:CA149268C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.724-1G>C582BBS1Pathogenic/Likely pathogenicrs748523268RCV000667597; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628874066288740GC11:g.66288740G>C-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.777del (p.Glu260fs)582BBS1Likely pathogenicrs1555047786RCV000625559; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628879366288793GTG11:g.66288793_66288793delClinGen:CA658797687
NM_024649.5(BBS1):c.786del (p.Ala264fs)582BBS1Likely pathogenicrs1057516330RCV000409955; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628880266288802CGC11:g.66288802_66288802delClinGen:CA16041524C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.803G>A (p.Arg268His)582BBS1Uncertain significancers375949076RCV000293338|RCV000404719; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:CN517202116628882066288820GA11:g.66288820G>AClinGen:CA6123501C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.830+2T>C582BBS1Likely pathogenic-1RCV001175184; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628884966288849TC11:g.66288849T>C-
NM_024649.5(BBS1):c.830+12C>T582BBS1Uncertain significancers781283997RCV000345901; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628885966288859CT11:g.66288859C>TClinGen:CA6123510
NM_024649.5(BBS1):c.830+350_1110+217del582BBS1Pathogenic-1RCV001257323; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116628918766291560GGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCGCATGCCTCTAGCCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGG11:g.66289187_66289285del-
NM_024649.5(BBS1):c.831-5C>T582BBS1Conflicting interpretations of pathogenicityrs56177555RCV000082205|RCV000861255|RCV001104146|RCV001272381; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116629092266290922CT11:g.66290922C>TClinGen:CA149269CN169374 not specified;
NM_024649.5(BBS1):c.831-3C>G582BBS1Pathogenicrs113994179RCV000020905|RCV000995705; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629092466290924CG11:g.66290924C>GClinGen:CA342397C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.831-2A>G582BBS1Likely pathogenicrs1057517332RCV000410589|RCV000709658; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629092566290925AG11:g.66290925A>GClinGen:CA16041525
NM_024649.5(BBS1):c.851del (p.Tyr284fs)582BBS1Pathogenicrs587777830RCV000012929|RCV000780955; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110116629094766290947TAT11:g.66290947_66290947delClinGen:CA256229,OMIM:209901.0004
NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)582BBS1Likely pathogenicrs1057516427RCV000411176; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629095166290951CA11:g.66290951C>AClinGen:CA16041526
NM_024649.5(BBS1):c.867C>T (p.Ser289=)582BBS1Uncertain significance-1RCV001104147; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629096366290963CT11:g.66290963C>T-
NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)582BBS1Pathogenicrs1057517143RCV000410229|RCV001239133; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110116629096766290967CT11:g.66290967C>TClinGen:CA16041527C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.951+1G>A582BBS1Pathogenic/Likely pathogenicrs746875134RCV000410778|RCV000735921; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110116629104866291048GA11:g.66291048G>AClinGen:CA6123554
NM_024649.5(BBS1):c.951+58C>T582BBS1Uncertain significance-1RCV001175186; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629110566291105CT11:g.66291105C>T-
NM_024649.5(BBS1):c.952-1G>A582BBS1Likely pathogenicrs1057516661RCV000410767; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629119466291194GA11:g.66291194G>AClinGen:CA16041528
NM_024649.5(BBS1):c.952-1G>C582BBS1Pathogenicrs1057516661RCV000503709; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629119466291194GC11:g.66291194G>CClinGen:CA381461962
NM_024649.5(BBS1):c.952G>A (p.Gly318Arg)582BBS1Conflicting interpretations of pathogenicityrs1555048487RCV000513191|RCV000674877|RCV001199648; NMedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|Human Phenotype Ontology:HP:0000547,MONDO:MONDO:0019200,MeSH:D012174,MedGen:C0035334,OMIM:268000,OMIM:PS268000, Orphanet:791116629119566291195GA11:g.66291195G>AClinGen:CA381461967C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.965G>A (p.Trp322Ter)582BBS1Likely pathogenic-1RCV001264002; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629120866291208GA11:g.66291208G>A-
NM_024649.5(BBS1):c.981del (p.Ala328fs)582BBS1Likely pathogenicrs1057516371RCV000410213; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629122266291222GCG11:g.66291222_66291222delClinGen:CA16041529
NM_024649.5(BBS1):c.981C>T (p.Pro327=)582BBS1Conflicting interpretations of pathogenicityrs142243482RCV000287545|RCV001093955; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629122466291224CT11:g.66291224C>TClinGen:CA6123583
NM_024649.5(BBS1):c.1009G>T (p.Glu337Ter)582BBS1Likely pathogenic-1RCV001264003; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629125266291252GT11:g.66291252G>T-
NM_024649.5(BBS1):c.1012C>T (p.Gln338Ter)582BBS1Pathogenicrs869025205RCV000207577|RCV001225677; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110116629125566291255CT11:g.66291255C>TClinGen:CA351665C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)582BBS1Benign/Likely benignrs201872547RCV000345204|RCV001093956; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629127966291279GA11:g.66291279G>AClinGen:CA6123594
NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly)582BBS1Uncertain significancers1555048530RCV000665087; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629130466291304AG11:g.66291304A>G-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1072del (p.Tyr358fs)582BBS1Pathogenicrs1057516533RCV000411561|RCV000709659; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629131366291313ATA11:g.66291313_66291313delClinGen:CA16041530
NM_024649.5(BBS1):c.1071T>C (p.Ile357=)582BBS1Uncertain significance-1RCV001104148; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629131466291314TC11:g.66291314T>C-
NM_024649.5(BBS1):c.1088T>C (p.Leu363Pro)582BBS1Uncertain significancers540217506RCV000558593|RCV001104149; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629133166291331TC11:g.66291331T>CClinGen:CA6123606
NM_024649.5(BBS1):c.1100T>A (p.Ile367Asn)582BBS1Likely pathogenicrs1565286202RCV000761258; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629134366291343TA11:g.66291343T>A-
NM_024649.5(BBS1):c.1110G>A (p.Pro370=)582BBS1Conflicting interpretations of pathogenicityrs183771956RCV000668784; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629135366291353GA11:g.66291353G>A-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1110+15C>T582BBS1Uncertain significancers371084544RCV000403380|RCV000780954; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:CN169374116629136866291368CT11:g.66291368C>TClinGen:CA6123614
NM_024649.5(BBS1):c.1138C>T (p.Arg380Trp)582BBS1Uncertain significancers752299442RCV000305416|RCV001212347; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110116629362166293621CT11:g.66293621C>TClinGen:CA6123635
NM_024649.5(BBS1):c.1139G>A (p.Arg380Gln)582BBS1Uncertain significancers758139447RCV000196228|RCV000434974|RCV000709655; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629362266293622GA11:g.66293622G>AClinGen:CA336252
NM_024649.5(BBS1):c.1143C>A (p.Tyr381Ter)582BBS1Likely pathogenic-1RCV001264004; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629362666293626CA11:g.66293626C>A-
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)582BBS1Pathogenicrs113624356RCV000012926|RCV000082202|RCV000174408|RCV000210319|RCV000504693|RCV000787785|RCV001272384; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:CN517202|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype On116629365266293652TG11:g.66293652T>GClinGen:CA223760,UniProtKB:Q8NFJ9#VAR_017216,OMIM:209901.0001
NM_024649.5(BBS1):c.1180+5G>A582BBS1Uncertain significancers886048525RCV000339256; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629366866293668GA11:g.66293668G>AClinGen:CA10631280
NM_024649.5(BBS1):c.1194C>A (p.Ile398=)582BBS1Conflicting interpretations of pathogenicityrs200577824RCV000299774|RCV001093965|RCV001274040; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116629413366294133CA11:g.66294133C>AClinGen:CA6123670
NM_024649.5(BBS1):c.1198A>T (p.Lys400Ter)582BBS1Likely pathogenic-1RCV001264005; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629413766294137AT11:g.66294137A>T-
NM_024649.5(BBS1):c.1214_1215insSVA582BBS1Pathogenic-1RCV001260589; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629415366294154nana66294153-
NM_024649.5(BBS1):c.1240G>T (p.Glu414Ter)582BBS1Pathogenicrs1060503690RCV000466299|RCV000984148; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629417966294179GT11:g.66294179G>TClinGen:CA16613438
NM_024649.5(BBS1):c.1243del (p.Val415fs)582BBS1Pathogenicrs1590772920RCV000988581; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629418166294181AGA11:g.66294181_66294181del-
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)582BBS1Pathogenic/Likely pathogenicrs768443448RCV001092071|RCV000169362|RCV000984149; NMedGen:CN517202|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629422466294224CT11:g.66294224C>TClinGen:CA274213,ClinVar:982517C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1310A>T (p.Gln437Leu)582BBS1Uncertain significance-1RCV001041892|RCV001104456; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629424966294249AT11:g.66294249A>T-
NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)582BBS1Pathogenic/Likely pathogenicrs1014835928RCV000667051|RCV001060606; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110116629425766294257CT11:g.66294257C>T-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1334G>C (p.Gly445Ala)582BBS1Uncertain significancers765829383RCV000320019|RCV000356827; NMedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629427366294273GC11:g.66294273G>CClinGen:CA6123697C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1338C>T (p.Thr446=)582BBS1Conflicting interpretations of pathogenicityrs368302072RCV000392499|RCV001084455|RCV001104457; NMedGen:CN517202|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629427766294277CT11:g.66294277C>TClinGen:CA6123698CN169374 not specified;
NM_024649.5(BBS1):c.1340-1G>T582BBS1Likely pathogenicrs1555049893RCV000669016; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629728966297289GT11:g.66297289G>T-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1349G>A (p.Arg450Gln)582BBS1Benignrs77298332RCV000174798|RCV000259738|RCV000709662|RCV001272386; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116629729966297299GA11:g.66297299G>AClinGen:CA201182C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1371C>T (p.Tyr457=)582BBS1Uncertain significance-1RCV001104458; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629732166297321CT11:g.66297321C>T-
NM_024649.5(BBS1):c.1383A>G (p.Leu461=)582BBS1Conflicting interpretations of pathogenicityrs557739576RCV000871036|RCV001107213; NMedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629733366297333AG11:g.66297333A>G-
NM_024649.5(BBS1):c.1393_1394insTGCC (p.Arg465fs)582BBS1Likely pathogenicrs1555049933RCV000669045; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629734166297342CCCCTG11:g.66297341_66297342insCCTG-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1394G>A (p.Arg465His)582BBS1Uncertain significancers146072788RCV000298668; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629734466297344GA11:g.66297344G>AClinGen:CA6123754
NM_024649.5(BBS1):c.1405C>T (p.Gln469Ter)582BBS1Pathogenicrs1565289799RCV000678523; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629735566297355CT11:g.66297355C>T-
NM_024649.5(BBS1):c.1413C>T (p.Leu471=)582BBS1Benignrs3816492RCV000243070|RCV000369667|RCV000587805|RCV000709661|RCV001272387; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116629736366297363CT11:g.66297363C>TClinGen:CA6123761
NM_024649.5(BBS1):c.1423del (p.Ser474_Leu475insTer)582BBS1Likely pathogenicrs1057516901RCV000408994; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629737266297372GCG11:g.66297372_66297372delClinGen:CA16041531C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1473G>A (p.Val491=)582BBS1Uncertain significance-1RCV001248775; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629742366297423GA11:g.66297423G>A-
NM_024649.5(BBS1):c.1514_1515del (p.Leu505fs)582BBS1Pathogenicrs775769424RCV000410181; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629840566298406CTGC11:g.66298405_66298406delClinGen:CA6123801
NM_024649.5(BBS1):c.1535G>A (p.Arg512His)582BBS1Uncertain significancers202205304RCV000490348|RCV000825288|RCV001048535|RCV001273361; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|116629842666298426GA11:g.66298426G>AClinGen:CA6123805
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)582BBS1Conflicting interpretations of pathogenicityrs121917778RCV000012930|RCV001055313|RCV001075155; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|Human Phenotype Ontology:HP:0000556,Human Phenotype Ontology:HP:0007736,Human Phenotype Ontology:HP:0007910,Human Phenotype Ontology:HP:000797116629844466298444TC11:g.66298444T>CClinGen:CA256230,UniProtKB:Q8NFJ9#VAR_017217,OMIM:209901.0005C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1585dup (p.Ser529fs)582BBS1Likely pathogenicrs1555050268RCV000672587; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629847466298475AAT11:g.66298474_66298475insT-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1592C>T (p.Pro531Leu)582BBS1Uncertain significance-1RCV001107214|RCV001221209; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110116629848366298483CT11:g.66298483C>T-
NM_024649.5(BBS1):c.1594C>T (p.Arg532Trp)582BBS1Uncertain significancers770105141RCV000428642|RCV000660632|RCV001056999|RCV001273362; NMedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|116629848566298485CT11:g.66298485C>TClinGen:CA6123821C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1595G>A (p.Arg532Gln)582BBS1Uncertain significancers142648652RCV000387351|RCV001107215; NMedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629848666298486GA11:g.66298486G>AClinGen:CA6123822CN169374 not specified;
NM_024649.5(BBS1):c.1609-2A>T582BBS1Likely pathogenicrs1555050394RCV000674900; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629912566299125AT11:g.66299125A>T-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1631T>A (p.Leu544His)582BBS1Uncertain significancers1555050401RCV000667279; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629914966299149TA11:g.66299149T>A-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1634A>G (p.Asn545Ser)582BBS1Conflicting interpretations of pathogenicityrs148948642RCV000866224|RCV001107216|RCV001274043; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116629915266299152AG11:g.66299152A>G-
NM_024649.5(BBS1):c.1642del (p.Leu548fs)582BBS1Pathogenicrs1555050404RCV000670168; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629915666299156ACA11:g.66299156_66299156del-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1643dup (p.Glu549fs)582BBS1Likely pathogenicrs773632109RCV000411939; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629916066299161CCT11:g.66299160_66299161insTClinGen:CA16041532C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)582BBS1Pathogenic/Likely pathogenicrs121917777RCV000012927|RCV000169202|RCV001008645|RCV001273363; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN517202|116629916366299163GT11:g.66299163G>TClinGen:CA256226,OMIM:209901.0002C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1676_1678del (p.Gly559_Ile560delinsVal)582BBS1Uncertain significancers1555050422RCV000666868; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629919466299196GGCAG11:g.66299194_66299196del-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1676G>A (p.Gly559Asp)582BBS1Uncertain significance-1RCV001107217; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629919466299194GA11:g.66299194G>A-
NM_024649.5(BBS1):c.1695G>A (p.Lys565=)582BBS1Uncertain significancers1555050427RCV000673043; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629921366299213GA11:g.66299213G>A-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1695+10G>A582BBS1Benignrs200276861RCV000277522|RCV001094039|RCV001273364; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116629922366299223GA11:g.66299223G>AClinGen:CA6123858
NM_024649.5(BBS1):c.1702G>A (p.Val568Met)582BBS1Uncertain significancers754300140RCV000670648; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629942866299428GA11:g.66299428G>A-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1709G>A (p.Arg570Gln)582BBS1Uncertain significance-1RCV001107858|RCV001227610; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110116629943566299435GA11:g.66299435G>A-
NM_024649.5(BBS1):c.1717C>T (p.Gln573Ter)582BBS1Uncertain significancers1450045618RCV000674193; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629944366299443CT11:g.66299443C>T-C0752166 Bardet-Biedl syndrome;
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)582BBS1Benign/Likely benignrs150553044RCV000330285|RCV000709683; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629944566299445AG11:g.66299445A>GClinGen:CA6123879
NM_024649.5(BBS1):c.1744G>A (p.Val582Ile)582BBS1Uncertain significancers111358560RCV000387176|RCV001094040; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629947066299470GA11:g.66299470G>AClinGen:CA6123882
NM_024649.5(BBS1):c.*7A>G582BBS1Benignrs8432RCV000241930|RCV000709649|RCV001273365; NMedGen:CN169374|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|116629951566299515AG11:g.66299515A>GClinGen:CA6123896
NM_024649.5(BBS1):c.*10T>A582BBS1Uncertain significancers765633556RCV000709657; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629951866299518TA11:g.66299518T>AClinGen:CA6123897
NM_024649.5(BBS1):c.*51C>G582BBS1Uncertain significance-1RCV001107859; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629955966299559CG11:g.66299559C>G-
NM_024649.5(BBS1):c.*104G>C582BBS1Uncertain significancers554182779RCV000384443; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629961266299612GC11:g.66299612G>CClinGen:CA10639778
NM_024649.5(BBS1):c.*187C>T582BBS1Benign-1RCV001102624; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629969566299695CT11:g.66299695C>T-
NM_024649.5(BBS1):c.*219A>G582BBS1Likely benign-1RCV001102625; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629972766299727AG11:g.66299727A>G-
NM_024649.5(BBS1):c.*259C>A582BBS1Uncertain significance-1RCV001102626; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629976766299767CA11:g.66299767C>A-
NM_024649.5(BBS1):c.*428G>C582BBS1Benignrs41302425RCV000289990; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629993666299936GC11:g.66299936G>CClinGen:CA10631281
NM_024649.5(BBS1):c.*473C>T582BBS1Uncertain significancers886048526RCV000321664; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629998166299981CT11:g.66299981C>TClinGen:CA10635368
NM_024649.5(BBS1):c.*474G>A582BBS1Uncertain significance-1RCV001102627; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116629998266299982GA11:g.66299982G>A-
NM_024649.5(BBS1):c.*514C>T582BBS1Uncertain significancers886048527RCV000376204; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630002266300022CT11:g.66300022C>TClinGen:CA10639785
NM_024649.5(BBS1):c.*522C>T582BBS1Uncertain significancers886048528RCV000286482; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630003066300030CT11:g.66300030C>TClinGen:CA10635372
NM_024649.5(BBS1):c.*776G>A582BBS1Uncertain significance-1RCV001104544; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630028466300284GA11:g.66300284G>A-
NM_024649.5(BBS1):c.*840A>G582BBS1Benignrs3741360RCV000406652; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630034866300348AG11:g.66300348A>GClinGen:CA10631283
NM_024649.5(BBS1):c.*855G>A582BBS1Uncertain significancers886048530RCV000278111; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630036366300363GA11:g.66300363G>AClinGen:CA10631288
NM_024649.5(BBS1):c.*886C>T582BBS1Uncertain significance-1RCV001104545; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630039466300394CT11:g.66300394C>T-
NM_024649.5(BBS1):c.*950C>T582BBS1Uncertain significance-1RCV001104546; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630045866300458CT11:g.66300458C>T-
NM_024649.5(BBS1):c.*955G>A582BBS1Benignrs1791686RCV000337876; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630046366300463GA11:g.66300463G>AClinGen:CA10631293
NM_024649.5(BBS1):c.*1088G>A582BBS1Uncertain significancers886048531RCV000403006; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630059666300596GA11:g.66300596G>AClinGen:CA10639786
NM_024649.5(BBS1):c.*1215T>C582BBS1Benignrs115354748RCV000311875; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630072366300723TC11:g.66300723T>CClinGen:CA10635374
NM_024649.5(BBS1):c.*1217C>A582BBS1Uncertain significance-1RCV001107298; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630072566300725CA11:g.66300725C>A-
NM_024649.5(BBS1):c.*1274A>G582BBS1Uncertain significance-1RCV001107299; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630078266300782AG11:g.66300782A>G-
NM_024649.5(BBS1):c.*1349T>C582BBS1Uncertain significance-1RCV001107300; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900116630085766300857TC11:g.66300857T>C-
NM_024685.4(BBS10):c.1091del (p.Asn364fs)79738BBS10Pathogenic/Likely pathogenicrs727503818RCV000152827|RCV000169072|RCV000723707|RCV001004383|RCV001276472; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987, Orphanet:110|MedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|127674067476740674GTG12:g.76740674_76740674delClinGen:CA273303C0752166 Bardet-Biedl syndrome;
NM_024685.4(BBS10):c.943C>T (p.Gln315Ter)79738BBS10Likely pathogenicrs1592492255RCV001004384; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900127674082276740822GA12:g.76740822G>A-
NM_024685.4(BBS10):c.765G>A (p.Met255Ile)79738BBS10Conflicting interpretations of pathogenicityrs139658279RCV000224072|RCV000625184|RCV000667212|RCV000801717|RCV001272003; NMedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987, Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|127674100076741000CT12:g.76741000C>TClinGen:CA6694290,UniProtKB:Q8TAM1#VAR_066255
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)79738BBS10Benign/Likely benignrs142863601RCV000152829|RCV000224320|RCV000709626|RCV001079951|RCV001111799; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987, Orphanet:110127674134176741341CT12:g.76741341C>TClinGen:CA179770,UniProtKB:Q8TAM1#VAR_066253
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)79738BBS10Pathogenic/Likely pathogenicrs1460517643RCV000625185|RCV000763309; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014438,MedGen:C1859568,OMIM:615987, Orphanet:110127674197576741975AG12:g.76741975A>GClinGen:CA385816113
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)166379BBS12Conflicting interpretations of pathogenicityrs138036823RCV000082656|RCV000513736|RCV000626298|RCV000709646|RCV001080843; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:1104123663163123663163TC4:g.123663163T>CUniProtKB:Q6ZW61#VAR_034919,ClinGen:CA149562C0752166 Bardet-Biedl syndrome;
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)166379BBS12Conflicting interpretations of pathogenicityrs17006082RCV000546031|RCV000709645|RCV001144905|RCV001276157; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:110|4123663761123663761TG4:g.123663761T>GClinGen:CA3069317
NM_152618.3(BBS12):c.1062G>C (p.Val354=)166379BBS12Benignrs34296401RCV000251885|RCV000269545|RCV000709679|RCV001094778|RCV001276158; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:110|4123664109123664109GC4:g.123664109G>CClinGen:CA3069367C0752166 Bardet-Biedl syndrome;
NM_152618.3(BBS12):c.1157G>A (p.Arg386Gln)166379BBS12Benignrs309370RCV000152830|RCV000320946|RCV000709668|RCV001094824|RCV001276161; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:110|4123664204123664204GA4:g.123664204G>AClinGen:CA179772,UniProtKB:Q6ZW61#VAR_034927C0752166 Bardet-Biedl syndrome;
NM_152618.3(BBS12):c.1209G>A (p.Val403=)166379BBS12Benignrs17006092RCV000244188|RCV000324380|RCV000709678|RCV001094827|RCV001276163; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:110|4123664256123664256GA4:g.123664256G>AClinGen:CA3069400C0752166 Bardet-Biedl syndrome;
NM_152618.3(BBS12):c.1286G>C (p.Ser429Thr)166379BBS12Benignrs7665271RCV000175983|RCV000375974|RCV000709644|RCV001094858|RCV001276164; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:110|4123664333123664333GC4:g.123664333G>CClinGen:CA201724,UniProtKB:Q6ZW61#VAR_034928C0752166 Bardet-Biedl syndrome;
NM_152618.3(BBS12):c.1380G>C (p.Val460=)166379BBS12Benignrs13135766RCV000152831|RCV000293045|RCV000709667|RCV001094859|RCV001276165; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:110|4123664427123664427GC4:g.123664427G>CClinGen:CA179775C0752166 Bardet-Biedl syndrome;
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)166379BBS12Benign/Likely benignrs10027479RCV000086943|RCV000249356|RCV000350363|RCV000709643|RCV001094860|RCV001276166; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:110|4123664428123664428AC4:g.123664428A>CClinGen:CA228886,UniProtKB:Q6ZW61#VAR_034929C0752166 Bardet-Biedl syndrome;
NM_152618.3(BBS12):c.1399G>A (p.Asp467Asn)166379BBS12Benignrs13135778RCV000152832|RCV000315465|RCV000709666|RCV001094946|RCV001276168; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:110|4123664446123664446GA4:g.123664446G>AClinGen:CA179778,UniProtKB:Q6ZW61#VAR_034930C0752166 Bardet-Biedl syndrome;
NM_152618.3(BBS12):c.1410C>T (p.Cys470=)166379BBS12Benignrs13135445RCV000152833|RCV000343692|RCV000709665|RCV001094947|RCV001276169; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:110|4123664457123664457CT4:g.123664457C>TClinGen:CA179781C0752166 Bardet-Biedl syndrome;
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)166379BBS12Benign/Likely benignrs35690634RCV000253026|RCV000625062|RCV000860651|RCV001151112; NMedGen:CN169374|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:1104123664498123664498GA4:g.123664498G>AClinGen:CA3069449,UniProtKB:Q6ZW61#VAR_034931
NM_152618.3(BBS12):c.1847G>A (p.Ser616Asn)166379BBS12Benignrs28507107RCV000086944|RCV000245102|RCV000365621|RCV000709641|RCV001094950|RCV001276170; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:110|4123664894123664894GA4:g.123664894G>AClinGen:CA228888C0752166 Bardet-Biedl syndrome;
NM_152618.3(BBS12):c.1859A>G (p.Gln620Arg)166379BBS12Uncertain significancers139278612RCV000499698|RCV000625333|RCV000709681|RCV001145003; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:1104123664906123664906AG4:g.123664906A>GClinGen:CA3069524C0752166 Bardet-Biedl syndrome;
NM_152618.3(BBS12):c.1872A>G (p.Gln624=)166379BBS12Benignrs13102440RCV000152835|RCV000264109|RCV000709664|RCV001094786|RCV001276171; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014440,MedGen:C1859570,OMIM:615989, Orphanet:110|4123664919123664919AG4:g.123664919A>GClinGen:CA179784C0752166 Bardet-Biedl syndrome;
NM_031885.4(BBS2):c.1659+3A>G583BBS2Benign/Likely benignrs6499838RCV000249845|RCV000377426|RCV000428849|RCV000709640|RCV001094289|RCV001273847; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981, Orphanet:110|165653234656532346TC16:g.56532346T>CClinGen:CA8065659
NM_031885.4(BBS2):c.1511C>T (p.Ala504Val)583BBS2Benign/Likely benignrs16957538RCV000086984|RCV000203892|RCV000245072|RCV000709639|RCV001094290; NMedGen:CN517202|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN169374|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981, Orphanet:110165653370656533706GA16:g.56533706G>AClinGen:CA228934C0752166 Bardet-Biedl syndrome;
NM_031885.4(BBS2):c.1422G>A (p.Ser474=)583BBS2Conflicting interpretations of pathogenicityrs117033008RCV000174411|RCV000279525|RCV000709677|RCV001094291|RCV001273848; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981, Orphanet:110|165653379556533795CT16:g.56533795C>TClinGen:CA200970C0752166 Bardet-Biedl syndrome;
NM_031885.4(BBS2):c.1413A>C (p.Val471=)583BBS2Benign/Likely benignrs35294865RCV000082284|RCV000205379|RCV000709676|RCV001094292|RCV001273849; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981, Orphanet:110|165653380456533804TG16:g.56533804T>GClinGen:CA149358C0752166 Bardet-Biedl syndrome;
NM_031885.4(BBS2):c.805-20A>G583BBS2Conflicting interpretations of pathogenicityrs41280892RCV000224448|RCV000242904|RCV000709638|RCV001081960; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110165653674056536740TC16:g.56536740T>CClinGen:CA8065911C0752166 Bardet-Biedl syndrome;
NM_031885.4(BBS2):c.612+12C>A583BBS2Benignrs77019529RCV000029408|RCV000709637|RCV001094391; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981, Orphanet:110165654385756543857GT16:g.56543857G>TClinGen:CA260185C0752166 Bardet-Biedl syndrome;
NM_031885.4(BBS2):c.367A>G (p.Ile123Val)583BBS2Benignrs11373RCV000241605|RCV000261972|RCV000576482|RCV000709672|RCV001274371; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014432,MedGen:C2936863,OMIM:615981, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|165654517556545175TC16:g.56545175T>CClinGen:CA8066062C0752166 Bardet-Biedl syndrome;
NM_033028.5(BBS4):c.76+19G>T585BBS4Benignrs4777527RCV000152838|RCV000613001; NMedGen:CN169374|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900157298758872987588GT15:g.72987588G>TClinGen:CA179789C0752166 Bardet-Biedl syndrome;
NM_033028.5(BBS4):c.77-6G>A585BBS4Benignrs8033604RCV000252464|RCV000292222|RCV000709675|RCV001094447; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157300203573002035GA15:g.73002035G>AClinGen:CA7646495C0752166 Bardet-Biedl syndrome;
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)585BBS4Conflicting interpretations of pathogenicityrs75295839RCV000177393|RCV000425800|RCV000709674|RCV001085083|RCV001119683; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157300210173002101AG15:g.73002101A>GClinGen:CA202441,UniProtKB:Q96RK4#VAR_038894C0752166 Bardet-Biedl syndrome;
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr)585BBS4Benignrs2277598RCV000020938|RCV000132688|RCV000152842|RCV000709673|RCV001094309; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302747873027478TC15:g.73027478T>CClinGen:CA179792,UniProtKB:Q96RK4#VAR_017054C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1891-12C>A55212BBS7Benignrs2706793RCV000250259|RCV000356781|RCV000709670; NMedGen:CN169374|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:2099004122749436122749436GT4:g.122749436G>TClinGen:CA3064096C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1890+16G>A55212BBS7Benignrs1507994RCV000246850|RCV000601162; NMedGen:CN169374|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:2099004122749541122749541CT4:g.122749541C>TClinGen:CA3064114
NM_176824.3(BBS7):c.1512-7A>T55212BBS7Benign/Likely benignrs115987385RCV000152844|RCV000625061|RCV000709648|RCV001150900; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:1104122754557122754557TA4:g.122754557T>AClinGen:CA179796C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.1505A>G (p.His502Arg)55212BBS7Conflicting interpretations of pathogenicityrs114718913RCV000330267|RCV000435007|RCV000709647|RCV001094938; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014435,MedGen:C1859565,OMIM:615984, Orphanet:1104122756305122756305TC4:g.122756305T>CClinGen:CA3064214C0752166 Bardet-Biedl syndrome;
NM_176824.3(BBS7):c.186C>T (p.Pro62=)55212BBS7Benignrs35194418RCV000242686|RCV000470772|RCV000709682; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:2099004122782814122782814GA4:g.122782814G>AClinGen:CA3064562C0752166 Bardet-Biedl syndrome;
NM_198428.3(BBS9):c.1246G>A (p.Val416Met)27241BBS9Benign/Likely benignrs61764067RCV000082809|RCV000205415|RCV000709636|RCV001165173; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986, Orphanet:11073338055633380556GA7:g.33380556G>AClinGen:CA149643C0752166 Bardet-Biedl syndrome;
NM_198428.3(BBS9):c.1363G>A (p.Ala455Thr)27241BBS9Benignrs11773504RCV000250416|RCV000390761|RCV000709663|RCV001095135; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986, Orphanet:11073338871333388713GA7:g.33388713G>AClinGen:CA4214291,UniProtKB:Q3SYG4#VAR_051290C0752166 Bardet-Biedl syndrome;
NM_198428.3(BBS9):c.1546C>A (p.Pro516Thr)27241BBS9Benignrs73688160RCV000247367|RCV000368161|RCV000709635|RCV001095136; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986, Orphanet:11073339247933392479CA7:g.33392479C>AClinGen:CA4214392C0752166 Bardet-Biedl syndrome;
NM_198428.3(BBS9):c.1562G>A (p.Arg521Gln)27241BBS9Benignrs34218557RCV000252330|RCV000301231|RCV000709634|RCV001095137; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986, Orphanet:11073339747633397476GA7:g.33397476G>AUniProtKB:Q3SYG4#VAR_051291,ClinGen:CA4214434C0752166 Bardet-Biedl syndrome;
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)27241BBS9Benign/Likely benignrs150399299RCV000175110|RCV000514864|RCV000625094|RCV001084942; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:11073339756233397562AG7:g.33397562A>GClinGen:CA201301C0752166 Bardet-Biedl syndrome;
NM_198428.3(BBS9):c.1877_1880del (p.Lys626fs)27241BBS9Pathogenicrs606231137RCV000002781|RCV000433738|RCV000614851|RCV000709632; NMONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986, Orphanet:110|MedGen:CN517202|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:20990073342336433423367AAAACA7:g.33423364_33423367delClinGen:CA252391,OMIM:607968.0007
NM_198428.3(BBS9):c.1993C>T (p.Leu665Phe)27241BBS9Benign/Likely benignrs116262072RCV000152847|RCV000463844|RCV000709680; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:20990073342763433427634CT7:g.33427634C>TClinGen:CA179797,UniProtKB:Q3SYG4#VAR_066293C0752166 Bardet-Biedl syndrome;
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)27241BBS9Benign/Likely benignrs116483694RCV000195041|RCV000625095|RCV000709631|RCV001163185; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986, Orphanet:11073354517533545175CT7:g.33545175C>TClinGen:CA209597
NM_198428.3(BBS9):c.2299-20A>C27241BBS9Benignrs17727583RCV000248096|RCV000600207; NMedGen:CN169374|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:20990073357354633573546AC7:g.33573546A>CClinGen:CA4214657C0752166 Bardet-Biedl syndrome;
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)27241BBS9Benign/Likely benignrs146752751RCV000625096|RCV000862417|RCV001165278; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014437,MedGen:C1859567,OMIM:615986, Orphanet:11073357373733573737CT7:g.33573737C>TClinGen:CA4214693
NM_198428.3(BBS9):c.2632+9C>A27241BBS9Benign/Likely benignrs148654647RCV000253416|RCV000625097|RCV000862799; NMedGen:CN169374|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:11073364459633644596CA7:g.33644596C>AClinGen:CA4214748C0752166 Bardet-Biedl syndrome;
NM_020347.4(LZTFL1):c.778G>T (p.Glu260Ter)54585LZTFL1Pathogenicrs515726136RCV000114320|RCV000133553; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014445,MedGen:C3714980,OMIM:615994, Orphanet:11034586895145868951CA3:g.45868951C>AClinGen:CA170607,OMIM:606568.0003
NM_020347.4(LZTFL1):c.260T>C (p.Leu87Pro)54585LZTFL1Pathogenicrs515726135RCV000114319|RCV000133552; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014445,MedGen:C3714980,OMIM:615994, Orphanet:11034587714545877145AG3:g.45877145A>GClinGen:CA170605,UniProtKB:Q9NQ48#VAR_070104,OMIM:606568.0002C0752166 Bardet-Biedl syndrome;
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)51057WDPCPBenign/Likely benignrs61734468RCV000249291|RCV000514094|RCV000709653|RCV001080716|RCV001138529; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014443,MedGen:C3150127,OMIM:615992, Orphanet:11026340182063401820TC2:g.63401820T>CClinGen:CA348781C0752166 Bardet-Biedl syndrome;
NM_015910.7(WDPCP):c.1915+13G>A51057WDPCPBenignrs992214RCV000081787|RCV000380221|RCV000709671; NMedGen:CN169374|MONDO:MONDO:0014443,MedGen:C3150127,OMIM:615992, Orphanet:110|MONDO:MONDO:0008854,MedGen:C2936862,OMIM:20990026348642963486429CT2:g.63486429C>TClinGen:CA148790C0752166 Bardet-Biedl syndrome;
NM_015910.7(WDPCP):c.1448G>A (p.Arg483Gln)51057WDPCPConflicting interpretations of pathogenicityrs544657165RCV000624967|RCV001142952; NMONDO:MONDO:0008854,MedGen:C2936862,OMIM:209900|MONDO:MONDO:0014443,MedGen:C3150127,OMIM:615992, Orphanet:11026360921763609217CT2:g.63609217C>TClinGen:CA1682202C0752166 Bardet-Biedl syndrome;
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