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:1240
Name:Bardet-Biedl syndrome 4
Definition:
Alternative IDs:OMIM:615982
ParentIDs:MESH:D020788
TreeNumbers:C10.228.140.617.200/C537912 |C11.270.684.624/C537912 |C16.131.077.245.125/C537912 |C16.320.184.125/C537912
Synonyms:BBS4
Slim Mappings:Congenital abnormality|Eye disease|Genetic disease (inborn)|Nervous system disease
Reference: MedGen: C537912
MeSH: C537912
OMIM: 615982;
MSeqDR LSDB:  
Genes: BBS4; HBB;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0000164Abnormality of the dentitionHP:0040283
3 HP:0001156Brachydactyly
4 HP:0000028Cryptorchidism
5 HP:0003241External genital hypoplasia
6 HP:0000135Hypogonadism
NAMDC:  Hypoparathyroidism
7 HP:0001249Intellectual disabilityHP:0040283
8 HP:0000662Nyctalopia
9 HP:0001513Obesity
10 HP:0010442Polydactyly
11 HP:0000107Renal cyst
12 HP:0000546Retinal degeneration
13 HP:0000510Rod-cone dystrophy
14 HP:0001159Syndactyly
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001252678.1(BBS4):c.-513G>C585BBS4Uncertain significancers886051465RCV000285344; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157297852572978525GC15:g.72978525G>CClinGen:CA10646586
NM_001252678.1(BBS4):c.-507C>A585BBS4Benignrs11637927RCV000249064|RCV000335634; NMedGen:CN169374|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157297853172978531CA15:g.72978531C>AClinGen:CA7646404C0752166 Bardet-Biedl syndrome;
NM_033028.5(BBS4):c.-17C>T585BBS4Benignrs56368716RCV000173544|RCV000371581; NMedGen:CN169374|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157297855272978552CT15:g.72978552C>TClinGen:CA200605C0752166 Bardet-Biedl syndrome;
NM_033028.5(BBS4):c.-14T>A585BBS4Uncertain significancers146238636RCV000281672; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157297855572978555TA15:g.72978555T>AClinGen:CA7646410
NM_033028.5(BBS4):c.1A>G (p.Met1Val)585BBS4Uncertain significance-1RCV001118672; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157297856972978569AG15:g.72978569A>G-
NM_033028.5(BBS4):c.24+8C>T585BBS4Benignrs200055760RCV000173543|RCV000336731|RCV001094445; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157297860072978600CT15:g.72978600C>TClinGen:CA238993C0752166 Bardet-Biedl syndrome;
NM_033028.5(BBS4):c.37C>T (p.Pro13Ser)585BBS4Conflicting interpretations of pathogenicityrs151164191RCV000400282|RCV001094446; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157298753072987530CT15:g.72987530C>TClinGen:CA7646456
NM_033028.5(BBS4):c.63C>T (p.Pro21=)585BBS4Conflicting interpretations of pathogenicityrs267604309RCV000866356|RCV001120609; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157298755672987556CT15:g.72987556C>T-
NM_033028.5(BBS4):c.75dup (p.Ala26fs)585BBS4Uncertain significancers1567398832RCV000785020; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157298756272987563GGA15:g.72987562_72987563insA-
NM_033028.5(BBS4):c.77-216del585BBS4Pathogenicrs113994189RCV000009717|RCV000020945; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110157300182173001821TAT15:g.73001821_73001821delClinGen:CA254670,OMIM:600374.0002C0752166 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.157-2A>G585BBS4Pathogenicrs113994192RCV000009718|RCV000020932; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110157300458373004583AG15:g.73004583A>GClinGen:CA254671,OMIM:600374.0003C0752166 Bardet-Biedl syndrome;
NM_033028.5(BBS4):c.180A>G (p.Gln60=)585BBS4Benign/Likely benignrs114434361RCV000501555|RCV000860719|RCV001120610; NMedGen:CN169374|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157300460873004608AG15:g.73004608A>GClinGen:CA7646532CN169374 not specified;
NM_033028.5(BBS4):c.206_209CTAT[1] (p.Ile70fs)585BBS4Likely pathogenicrs775928735RCV000999693; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157300463473004637GCTATG15:g.73004634_73004637del-
NM_033028.5(BBS4):c.208A>G (p.Ile70Val)585BBS4Conflicting interpretations of pathogenicityrs142692981RCV000178378|RCV001080709|RCV001120611; NMedGen:CN517202|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157300463673004636AG15:g.73004636A>GClinGen:CA245459CN169374 not specified;
NM_033028.5(BBS4):c.220+3A>T585BBS4Uncertain significance-1RCV001120612; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157300465173004651AT15:g.73004651A>T-
NM_033028.5(BBS4):c.275C>T (p.Thr92Ile)585BBS4Uncertain significancers761814377RCV000352778; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157300768673007686CT15:g.73007686C>TClinGen:CA7646569
NM_033028.5(BBS4):c.289_291delinsTG (p.Ser97fs)585BBS4Likely pathogenic-1RCV001198349; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157300770073007702AGTTG15:g.73007701_73007702del-
NM_033028.5(BBS4):c.329C>G (p.Ser110Cys)585BBS4Uncertain significance-1RCV001115696|RCV001204058; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110157300774073007740CG15:g.73007740C>G-
NM_033028.5(BBS4):c.405+7A>G585BBS4Conflicting interpretations of pathogenicityrs778651927RCV000869380|RCV001115697; NMedGen:CN517202|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157300919873009198AG15:g.73009198A>G-
NM_033028.5(BBS4):c.406-2A>G585BBS4Pathogenicrs113994191RCV000207846; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157301513373015133AG15:g.73015133A>GClinGen:CA065314
NM_033028.5(BBS4):c.587+1G>A585BBS4Uncertain significancers886051466RCV000398951; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157301699773016997GA15:g.73016997G>AClinGen:CA10647386
NM_033028.5(BBS4):c.684A>C (p.Ala228=)585BBS4Uncertain significance-1RCV001115698; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302199873021998AC15:g.73021998A>C-
NM_033028.5(BBS4):c.752A>G (p.Asp251Gly)585BBS4Uncertain significancers148843256RCV000308526|RCV001094267; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302368673023686AG15:g.73023686A>GClinGen:CA7646760
NM_033028.5(BBS4):c.791G>T (p.Cys264Phe)585BBS4Likely pathogenicrs200113494RCV000985187; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302372573023725GT15:g.73023725G>T-
NM_033028.5(BBS4):c.883C>T (p.Arg295Ter)585BBS4Pathogenic/Likely pathogenicrs775710800RCV000449577|RCV000995387|RCV001199438; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110|MedGen:CN517202|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110157302391473023914CT15:g.73023914C>TClinGen:CA7646830C2936864 615982 Bardet-Biedl syndrome 4;
NM_033028.5(BBS4):c.884G>C (p.Arg295Pro)585BBS4Pathogenicrs121434632RCV000009716|RCV001002881; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110157302391573023915GC15:g.73023915G>CClinGen:CA254669,UniProtKB:Q96RK4#VAR_013170,OMIM:600374.0001C2936864 615982 Bardet-Biedl syndrome 4;
NM_033028.5(BBS4):c.1029C>T (p.Leu343=)585BBS4Uncertain significance-1RCV001115699; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302406073024060CT15:g.73024060C>T-
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_033028.5(BBS4):c.1083C>T (p.Tyr361=)585BBS4Uncertain significance-1RCV001117118; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302750073027500CT15:g.73027500C>T-
NM_033028.5(BBS4):c.1091C>A (p.Ala364Glu)585BBS4Pathogenicrs28938468RCV000009719; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302750873027508CA15:g.73027508C>AClinGen:CA254672,UniProtKB:Q96RK4#VAR_017051,OMIM:600374.0004C2936864 615982 Bardet-Biedl syndrome 4;
NM_033028.5(BBS4):c.1103A>G (p.Asp368Gly)585BBS4Uncertain significancers772548770RCV000778447; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302752073027520AG15:g.73027520A>G-
NM_033028.5(BBS4):c.1107-7G>A585BBS4Uncertain significancers766664389RCV000392838|RCV000415761; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110|MedGen:CN517202157302815973028159GA15:g.73028159G>AClinGen:CA7646915
NM_033028.5(BBS4):c.1179C>T (p.Ala393=)585BBS4Conflicting interpretations of pathogenicityrs780560947RCV000464128|RCV001117119; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302823873028238CT15:g.73028238C>TClinGen:CA7646937
NM_033028.5(BBS4):c.1215C>G (p.Leu405=)585BBS4Conflicting interpretations of pathogenicityrs3759869RCV000309670|RCV001094310; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302827473028274CG15:g.73028274C>GClinGen:CA7646949
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)585BBS4Conflicting interpretations of pathogenicityrs147202164RCV000242237|RCV000638381|RCV001081942|RCV001117120; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302829573028295AT15:g.73028295A>TClinGen:CA7646955,UniProtKB:Q96RK4#VAR_066288
NM_033028.5(BBS4):c.1309A>G (p.Thr437Ala)585BBS4Uncertain significancers775122250RCV000359706; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302916373029163AG15:g.73029163A>GClinGen:CA7646991
NM_033028.5(BBS4):c.1376A>G (p.Gln459Arg)585BBS4Uncertain significancers766535822RCV000265022; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302923073029230AG15:g.73029230A>GClinGen:CA7647010
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)585BBS4Conflicting interpretations of pathogenicityrs2277596RCV000132689|RCV000246726|RCV000490439|RCV001085941; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110157302926873029268AG15:g.73029268A>GUniProtKB:Q96RK4#VAR_017053,ClinGen:CA232857
NM_033028.5(BBS4):c.1440G>A (p.Thr480=)585BBS4Conflicting interpretations of pathogenicityrs148682268RCV000324428|RCV001094365; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302929473029294GA15:g.73029294G>AClinGen:CA7647024
NM_033028.5(BBS4):c.1473C>G (p.Phe491Leu)585BBS4Uncertain significancers886051468RCV000261088; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302984173029841CG15:g.73029841C>GClinGen:CA10636531
NM_033028.5(BBS4):c.1511C>T (p.Ala504Val)585BBS4Uncertain significance-1RCV001042749|RCV001118760; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302987973029879CT15:g.73029879C>T-
NM_033028.5(BBS4):c.1512G>A (p.Ala504=)585BBS4Uncertain significance-1RCV001118761; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302988073029880GA15:g.73029880G>A-
NM_033028.5(BBS4):c.1556A>G (p.Lys519Arg)585BBS4Uncertain significance-1RCV001118762|RCV001230721; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110|MONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110157302992473029924AG15:g.73029924A>G-
NM_033028.5(BBS4):c.*1G>C585BBS4Benignrs113678046RCV000020939|RCV000253811|RCV001094366; NMONDO:MONDO:0015229,MedGen:C0752166,OMIM:PS209900, Orphanet:110|MedGen:CN169374|MONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302992973029929GC15:g.73029929G>CClinGen:CA342427C0752166 Bardet-Biedl syndrome;
NM_033028.5(BBS4):c.*36G>A585BBS4Uncertain significancers376830638RCV000375618; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302996473029964GA15:g.73029964G>AClinGen:CA7647076
NM_033028.5(BBS4):c.*43G>T585BBS4Likely benignrs144706746RCV000281156; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302997173029971GT15:g.73029971G>TClinGen:CA7647079
NM_033028.5(BBS4):c.*65G>A585BBS4Uncertain significance-1RCV001120701; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157302999373029993GA15:g.73029993G>A-
NM_033028.5(BBS4):c.*149C>A585BBS4Uncertain significancers578051922RCV000331599; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303007773030077CA15:g.73030077C>AClinGen:CA7647094
NM_033028.5(BBS4):c.*157C>G585BBS4Uncertain significancers149263274RCV000386130; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303008573030085CG15:g.73030085C>GClinGen:CA7647096
NM_033028.5(BBS4):c.*159A>G585BBS4Uncertain significance-1RCV001120702; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303008773030087AG15:g.73030087A>G-
NM_033028.5(BBS4):c.*200C>T585BBS4Uncertain significance-1RCV001120703; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303012873030128CT15:g.73030128C>T-
NM_033028.5(BBS4):c.*498T>C585BBS4Uncertain significance-1RCV001120704; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303042673030426TC15:g.73030426T>C-
NM_033028.5(BBS4):c.*522A>G585BBS4Likely benign-1RCV001120705; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303045073030450AG15:g.73030450A>G-
NM_033028.5(BBS4):c.*581T>A585BBS4Uncertain significance-1RCV001115779; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303050973030509TA15:g.73030509T>A-
NM_033028.5(BBS4):c.*608G>T585BBS4Benignrs12898814RCV000294760; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303053673030536GT15:g.73030536G>TClinGen:CA7647118
NM_033028.5(BBS4):c.*611C>T585BBS4Uncertain significancers41277724RCV000344998; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303053973030539CT15:g.73030539C>TClinGen:CA7647120
NM_033028.5(BBS4):c.*643A>C585BBS4Uncertain significancers886051469RCV000401387; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303057173030571AC15:g.73030571A>CClinGen:CA10636536C0752166 Bardet-Biedl syndrome;
NM_033028.5(BBS4):c.*691G>A585BBS4Likely benign-1RCV001115780; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303061973030619GA15:g.73030619G>A-
NM_033028.5(BBS4):c.*737T>C585BBS4Uncertain significance-1RCV001115781; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303066573030665TC15:g.73030665T>C-
NM_033028.5(BBS4):c.*770C>T585BBS4Uncertain significance-1RCV001115782; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303069873030698CT15:g.73030698C>T-
NM_033028.5(BBS4):c.*783A>G585BBS4Uncertain significance-1RCV001115783; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303071173030711AG15:g.73030711A>G-
NM_033028.5(BBS4):c.*883C>T585BBS4Uncertain significancers886051470RCV000345981; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303081173030811CT15:g.73030811C>TClinGen:CA10642538
NM_033028.5(BBS4):c.*885T>C585BBS4Uncertain significancers753912948RCV000401007; NMONDO:MONDO:0014433,MedGen:C2936864,OMIM:615982, Orphanet:110157303081373030813TC15:g.73030813T>CClinGen:CA10636541
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